BAG1
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
ACC93326454033264540+5'FlankSNPCCGTCGA-OR-A5JP-01A-11D-A29I-10TCGA-OR-A5JP-10A-01D-A29L-10g.chr9:33264540C>G
ACC93326454033264540+5'FlankSNPCCGTCGA-OR-A5K8-01A-11D-A29I-10TCGA-OR-A5K8-10A-01D-A29L-10g.chr9:33264540C>G
BLCA93325524233255242+Missense_MutationSNPGGATCGA-DK-A6B6-01A-11D-A30E-08TCGA-DK-A6B6-10A-01D-A30H-08g.chr9:33255242G>Ac.668C>Tc.(667-669)tCt>tTtp.S223F
BLCA93325686133256861+Missense_MutationSNPCCTTCGA-FD-A3SO-01A-11D-A22Z-08TCGA-FD-A3SO-10A-01D-A22Z-08g.chr9:33256861C>Tc.478G>Ac.(478-480)Gat>Aatp.D160N
BLCA93326445433264454+5'FlankSNPCCTTCGA-DK-A1AC-01A-11D-A13W-08TCGA-DK-A1AC-10A-01D-A13W-08g.chr9:33264454C>T
BRCA93326111733261117+Missense_MutationSNPCCTTCGA-BH-A5J0-01A-11D-A27P-09TCGA-BH-A5J0-10A-01D-A27P-09g.chr9:33261117C>Tc.286G>Ac.(286-288)Gat>Aatp.D96N
COAD93325526333255263+Missense_MutationSNPTTCTCGA-CM-6172-01A-11D-1650-10TCGA-CM-6172-10A-01D-1650-10g.chr9:33255263T>Cc.647A>Gc.(646-648)cAg>cGgp.Q216R
COAD93325586633255866+SilentSNPAAGTCGA-CA-6717-01A-11D-1835-10TCGA-CA-6717-10A-01D-1835-10g.chr9:33255866A>Gc.600T>Cc.(598-600)gtT>gtCp.V200V
COAD93325586933255870+Frame_Shift_InsINS--TTCGA-AA-A01Q-01A-01W-A005-10TCGA-AA-A01Q-10A-01W-A005-10g.chr9:33255869_33255870insTc.596_597insAc.(595-597)aagfsp.K199fs
COAD93325587033255870+Frame_Shift_DelDELTT-TCGA-A6-6780-01A-11D-1835-10TCGA-A6-6780-10A-01D-1835-10g.chr9:33255870delTc.596delAc.(595-597)aagfsp.K199fs
COADREAD93325526333255263+Missense_MutationSNPTTCTCGA-CM-6172-01A-11D-1650-10TCGA-CM-6172-10A-01D-1650-10g.chr9:33255263T>Cc.647A>Gc.(646-648)cAg>cGgp.Q216R
COADREAD93325586633255866+SilentSNPAAGTCGA-CA-6717-01A-11D-1835-10TCGA-CA-6717-10A-01D-1835-10g.chr9:33255866A>Gc.600T>Cc.(598-600)gtT>gtCp.V200V
COADREAD93325586933255870+Frame_Shift_InsINS--TTCGA-AA-A01Q-01A-01W-A005-10TCGA-AA-A01Q-10A-01W-A005-10g.chr9:33255869_33255870insTc.596_597insAc.(595-597)aagfsp.K199fs
COADREAD93325587033255870+Frame_Shift_DelDELTT-TCGA-A6-6780-01A-11D-1835-10TCGA-A6-6780-10A-01D-1835-10g.chr9:33255870delTc.596delAc.(595-597)aagfsp.K199fs
COADREAD93325591233255912+Missense_MutationSNPTTATCGA-AG-A008-01A-01W-A005-10TCGA-AG-A008-10A-01W-A005-10g.chr9:33255912T>Ac.554A>Tc.(553-555)aAt>aTtp.N185I
COADREAD93326443033264430+5'FlankSNPGGATCGA-AG-3999-01A-01W-1073-09TCGA-AG-3999-10A-01W-1073-09g.chr9:33264430G>A
ESCA93325687133256871+SilentSNPGGTTCGA-R6-A6XG-01B-11D-A33E-09TCGA-R6-A6XG-10A-01D-A33H-09g.chr9:33256871G>Tc.468C>Ac.(466-468)ctC>ctAp.L156L
GBMLGG93325683033256830+Missense_MutationSNPAACTCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr9:33256830A>Cc.509T>Gc.(508-510)tTt>tGtp.F170C
HNSC93325524033255240+Missense_MutationSNPTTCTCGA-F7-A624-01A-22D-A30E-08TCGA-F7-A624-10A-01D-A30H-08g.chr9:33255240T>Cc.670A>Gc.(670-672)Aca>Gcap.T224A
HNSC93326431233264312+5'FlankSNPCCATCGA-CV-A6K1-01A-11D-A31L-08TCGA-CV-A6K1-10A-01D-A31J-08g.chr9:33264312C>A
KIPAN93326425133264251+5'FlankSNPGGATCGA-B0-5098-01A-01D-1421-08TCGA-B0-5098-11A-01D-1421-08g.chr9:33264251G>A
KIRC93326425133264251+5'FlankSNPGGATCGA-B0-5098-01A-01D-1421-08TCGA-B0-5098-11A-01D-1421-08g.chr9:33264251G>A
LGG93325683033256830+Missense_MutationSNPAACTCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr9:33256830A>Cc.509T>Gc.(508-510)tTt>tGtp.F170C
LUAD93326432833264328+5'FlankSNPCCTTCGA-49-6742-01A-11D-1855-08TCGA-49-6742-11A-01D-1855-08g.chr9:33264328C>T
LUAD93326443333264433+5'FlankSNPCCATCGA-L4-A4E5-01A-11D-A24P-08TCGA-L4-A4E5-10A-01D-A24P-08g.chr9:33264433C>A
LUSC93325681633256816+Missense_MutationSNPCCTTCGA-18-3409-01A-01D-0983-08TCGA-18-3409-11A-01D-0983-08g.chr9:33256816C>Tc.523G>Ac.(523-525)Gag>Aagp.E175K
OV93325526433255264+Nonsense_MutationSNPGGATCGA-04-1347-01A-01W-0488-09TCGA-04-1347-11A-01W-0489-09g.chr9:33255264G>Ac.646C>Tc.(646-648)Cag>Tagp.Q216*
OV93326109333261093+Missense_MutationSNPCCTTCGA-61-1740-01A-01W-0639-09TCGA-61-1740-11A-01W-0639-09g.chr9:33261093C>Tc.310G>Ac.(310-312)Ggg>Aggp.G104R
PAAD93326439633264396+5'FlankSNPTTCTCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr9:33264396T>C
PRAD93326271433262714+5'FlankSNPTTATCGA-ZG-A8QX-01A-11D-A377-08TCGA-ZG-A8QX-10A-01D-A37A-08g.chr9:33262714T>A
READ93325591233255912+Missense_MutationSNPTTATCGA-AG-A008-01A-01W-A005-10TCGA-AG-A008-10A-01W-A005-10g.chr9:33255912T>Ac.554A>Tc.(553-555)aAt>aTtp.N185I
READ93326443033264430+5'FlankSNPGGATCGA-AG-3999-01A-01W-1073-09TCGA-AG-3999-10A-01W-1073-09g.chr9:33264430G>A
SKCM93326454533264545+5'FlankSNPGGATCGA-D3-A2JH-06A-11D-A196-08TCGA-D3-A2JH-10A-01D-A198-08g.chr9:33264545G>A
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BLCA-CN93326429033264290single base substitutionGAexon_variant
BLCA-CN93326429033264290single base substitutionGAmissense_variantS128L383C>T
BLCA-CN93326429033264290single base substitutionGAmissense_variantS13L38C>T
BLCA-CN93326429033264290single base substitutionGAupstream_gene_variant
BLCA-US93325686133256861single base substitutionCT3_prime_UTR_variant
BLCA-US93325686133256861single base substitutionCTdownstream_gene_variant
BLCA-US93325686133256861single base substitutionCTexon_variant
BLCA-US93325686133256861single base substitutionCTmissense_variantD160N478G>A
BLCA-US93325686133256861single base substitutionCTmissense_variantD275N823G>A
BLCA-US93325686133256861single base substitutionCTupstream_gene_variant
BLCA-US93326445433264454single base substitutionCT5_prime_UTR_variant
BLCA-US93326445433264454single base substitutionCTsynonymous_variantK73K219G>A
BLCA-US93326445433264454single base substitutionCTupstream_gene_variant
BRCA-EU93324339833243398single base substitutionATdownstream_gene_variant
BRCA-EU93324345833243458single base substitutionCGdownstream_gene_variant
BRCA-EU93324469833244698single base substitutionGAdownstream_gene_variant
BRCA-EU93324655333246553single base substitutionCTdownstream_gene_variant
BRCA-EU93324679133246791single base substitutionGAdownstream_gene_variant
BRCA-EU93324711133247111single base substitutionGAdownstream_gene_variant
BRCA-EU93324881633248816single base substitutionGCdownstream_gene_variant
BRCA-EU93324881633248816single base substitutionGCintron_variant
BRCA-EU93325135533251355single base substitutionTCdownstream_gene_variant
BRCA-EU93325135533251355single base substitutionTCintron_variant
BRCA-EU93325299633252996single base substitutionGC3_prime_UTR_variant
BRCA-EU93325299633252996single base substitutionGCdownstream_gene_variant
BRCA-EU93325299633252996single base substitutionGCintron_variant
BRCA-EU93325362933253629single base substitutionCG3_prime_UTR_variant
BRCA-EU93325362933253629single base substitutionCGdownstream_gene_variant
BRCA-EU93325362933253629single base substitutionCGintron_variant
BRCA-EU93325395433253954single base substitutionGT3_prime_UTR_variant
BRCA-EU93325395433253954single base substitutionGTdownstream_gene_variant
BRCA-EU93325395433253954single base substitutionGTintron_variant
BRCA-EU93325423133254231single base substitutionGA3_prime_UTR_variant
BRCA-EU93325423133254231single base substitutionGAdownstream_gene_variant
BRCA-EU93325423133254231single base substitutionGAintron_variant
BRCA-EU93325482533254825single base substitutionCT3_prime_UTR_variant
BRCA-EU93325482533254825single base substitutionCTdownstream_gene_variant
BRCA-EU93325482533254825single base substitutionCTintron_variant
BRCA-EU93325614733256147single base substitutionGAdownstream_gene_variant
BRCA-EU93325614733256147single base substitutionGAintron_variant
BRCA-EU93325714933257149single base substitutionGAdownstream_gene_variant
BRCA-EU93325714933257149single base substitutionGAexon_variant
BRCA-EU93325714933257149single base substitutionGAintron_variant
BRCA-EU93325714933257149single base substitutionGAupstream_gene_variant
BRCA-EU93325721933257219single base substitutionCAdownstream_gene_variant
BRCA-EU93325721933257219single base substitutionCAexon_variant
BRCA-EU93325721933257219single base substitutionCAintron_variant
BRCA-EU93325721933257219single base substitutionCAupstream_gene_variant
BRCA-EU93325785033257850deletion of <=200bpT-downstream_gene_variant
BRCA-EU93325785033257850deletion of <=200bpT-exon_variant
BRCA-EU93325785033257850deletion of <=200bpT-intron_variant
BRCA-EU93325785033257850deletion of <=200bpT-upstream_gene_variant
BRCA-EU93326075533260755single base substitutionGCdownstream_gene_variant
BRCA-EU93326075533260755single base substitutionGCintron_variant
BRCA-EU93326075533260755single base substitutionGCupstream_gene_variant
BRCA-EU93326272633262727deletion of <=200bpTG-downstream_gene_variant
BRCA-EU93326272633262727deletion of <=200bpTG-exon_variant
BRCA-EU93326272633262727deletion of <=200bpTG-frameshift_variantQ185
BRCA-EU93326272633262727deletion of <=200bpTG-frameshift_variantQ70
BRCA-EU93326272633262727deletion of <=200bpTG-frameshift_variantQ76
BRCA-EU93326272633262727deletion of <=200bpTG-upstream_gene_variant
BRCA-EU93326507333265073single base substitutionCGupstream_gene_variant
BRCA-EU93326729333267293single base substitutionCTupstream_gene_variant
BTCA-JP93324527833245278single base substitutionGAdownstream_gene_variant
CESC-US93326212533262125single base substitutionGCdownstream_gene_variant
CESC-US93326212533262125single base substitutionGCexon_variant
CESC-US93326212533262125single base substitutionGCintron_variant
CESC-US93326212533262125single base substitutionGCupstream_gene_variant
CESC-US93326601833266018single base substitutionGCupstream_gene_variant
CLLE-ES93325469933254699single base substitutionGA3_prime_UTR_variant
CLLE-ES93325469933254699single base substitutionGAdownstream_gene_variant
CLLE-ES93325469933254699single base substitutionGAintron_variant
CLLE-ES93325621833256218single base substitutionGAdownstream_gene_variant
CLLE-ES93325621833256218single base substitutionGAintron_variant
CLLE-ES93326691933266919single base substitutionGAupstream_gene_variant
COAD-US93324845933248459single base substitutionGAdownstream_gene_variant
COAD-US93324845933248459single base substitutionGAintron_variant
COAD-US93325586633255866single base substitutionAG3_prime_UTR_variant
COAD-US93325586633255866single base substitutionAGdownstream_gene_variant
COAD-US93325586633255866single base substitutionAGexon_variant
COAD-US93325586633255866single base substitutionAGsynonymous_variantV200V600T>C
COAD-US93325586633255866single base substitutionAGsynonymous_variantV315V945T>C
COAD-US93325587033255870deletion of <=200bpT-3_prime_UTR_variant
COAD-US93325587033255870deletion of <=200bpT-downstream_gene_variant
COAD-US93325587033255870deletion of <=200bpT-exon_variant
COAD-US93325587033255870deletion of <=200bpT-frameshift_variantK199
COAD-US93325587033255870deletion of <=200bpT-frameshift_variantK314
COAD-US93326439333264410deletion of <=200bpGGGTCAACTCCTCGCTCC-5_prime_UTR_variant
COAD-US93326439333264410deletion of <=200bpGGGTCAACTCCTCGCTCC-disruptive_inframe_deletionRSEELTL88L
COAD-US93326439333264410deletion of <=200bpGGGTCAACTCCTCGCTCC-upstream_gene_variant
COAD-US93326454033264540single base substitutionCG5_prime_UTR_variant
COAD-US93326454033264540single base substitutionCGmissense_variantG45R133G>C
COAD-US93326454033264540single base substitutionCGupstream_gene_variant
COCA-CN93324514633245146single base substitutionGTdownstream_gene_variant
COCA-CN93324832533248325single base substitutionGAdownstream_gene_variant
COCA-CN93324832533248325single base substitutionGAexon_variant
COCA-CN93325591033255910single base substitutionAC3_prime_UTR_variant
COCA-CN93325591033255910single base substitutionACdownstream_gene_variant
COCA-CN93325591033255910single base substitutionACexon_variant
COCA-CN93325591033255910single base substitutionACmissense_variantF186V556T>G
COCA-CN93325591033255910single base substitutionACmissense_variantF301V901T>G
COCA-CN93325676633256766single base substitutionACdownstream_gene_variant
COCA-CN93325676633256766single base substitutionACintron_variant
COCA-CN93325900233259002single base substitutionCA3_prime_UTR_variant
COCA-CN93325900233259002single base substitutionCAdownstream_gene_variant
COCA-CN93325900233259002single base substitutionCAexon_variant
COCA-CN93325900233259002single base substitutionCAmissense_variantK116N348G>T
COCA-CN93325900233259002single base substitutionCAmissense_variantK122N366G>T
COCA-CN93325900233259002single base substitutionCAmissense_variantK231N693G>T
COCA-CN93325900233259002single base substitutionCAupstream_gene_variant
COCA-CN93326266633262666single base substitutionAGdownstream_gene_variant
COCA-CN93326266633262666single base substitutionAGintron_variant
COCA-CN93326266633262666single base substitutionAGupstream_gene_variant
EOPC-DE93324509033245090single base substitutionCAdownstream_gene_variant
ESAD-UK93324707533247075single base substitutionTGdownstream_gene_variant
ESAD-UK93324792333247923single base substitutionTCdownstream_gene_variant
ESAD-UK93324792333247923single base substitutionTCexon_variant
ESAD-UK93325341033253410single base substitutionTC3_prime_UTR_variant
ESAD-UK93325341033253410single base substitutionTCdownstream_gene_variant
ESAD-UK93325341033253410single base substitutionTCintron_variant
ESAD-UK93325364433253644insertion of <=200bp-CT3_prime_UTR_variant
ESAD-UK93325364433253644insertion of <=200bp-CTdownstream_gene_variant
ESAD-UK93325364433253644insertion of <=200bp-CTintron_variant
ESAD-UK93325392933253929single base substitutionAC3_prime_UTR_variant
ESAD-UK93325392933253929single base substitutionACdownstream_gene_variant
ESAD-UK93325392933253929single base substitutionACintron_variant
ESAD-UK93325503433255034single base substitutionTC3_prime_UTR_variant
ESAD-UK93325503433255034single base substitutionTCdownstream_gene_variant
ESAD-UK93325503433255034single base substitutionTCexon_variant
ESAD-UK93325503433255034single base substitutionTCintron_variant
ESAD-UK93325790433257904single base substitutionGCdownstream_gene_variant
ESAD-UK93325790433257904single base substitutionGCexon_variant
ESAD-UK93325790433257904single base substitutionGCintron_variant
ESAD-UK93325790433257904single base substitutionGCupstream_gene_variant
ESAD-UK93326044333260443deletion of <=200bpT-downstream_gene_variant
ESAD-UK93326044333260443deletion of <=200bpT-exon_variant
ESAD-UK93326044333260443deletion of <=200bpT-intron_variant
ESAD-UK93326044333260443deletion of <=200bpT-upstream_gene_variant
ESAD-UK93326201033262010single base substitutionCAdownstream_gene_variant
ESAD-UK93326201033262010single base substitutionCAintron_variant
ESAD-UK93326201033262010single base substitutionCAupstream_gene_variant
ESAD-UK93326431233264312single base substitutionCAexon_variant
ESAD-UK93326431233264312single base substitutionCAstop_gainedE121*361G>T
ESAD-UK93326431233264312single base substitutionCAstop_gainedE6*16G>T
ESAD-UK93326431233264312single base substitutionCAupstream_gene_variant
ESAD-UK93326526433265264single base substitutionCTupstream_gene_variant
ESAD-UK93326663533266635single base substitutionGTupstream_gene_variant
ESCA-CN93324670633246706single base substitutionCAdownstream_gene_variant
ESCA-CN93325529533255295single base substitutionGA3_prime_UTR_variant
ESCA-CN93325529533255295single base substitutionGAdownstream_gene_variant
ESCA-CN93325529533255295single base substitutionGAexon_variant
ESCA-CN93325529533255295single base substitutionGAintron_variant
ESCA-CN93325529533255295single base substitutionGAsynonymous_variantA205A615C>T
ESCA-CN93325529533255295single base substitutionGAsynonymous_variantA320A960C>T
GBM-US93325895033258950single base substitutionCG3_prime_UTR_variant
GBM-US93325895033258950single base substitutionCGdownstream_gene_variant
GBM-US93325895033258950single base substitutionCGexon_variant
GBM-US93325895033258950single base substitutionCGmissense_variantE134Q400G>C
GBM-US93325895033258950single base substitutionCGmissense_variantE140Q418G>C
GBM-US93325895033258950single base substitutionCGmissense_variantE249Q745G>C
GBM-US93325895033258950single base substitutionCGupstream_gene_variant
GBM-US93325898433258984single base substitutionCG3_prime_UTR_variant
GBM-US93325898433258984single base substitutionCGdownstream_gene_variant
GBM-US93325898433258984single base substitutionCGexon_variant
GBM-US93325898433258984single base substitutionCGmissense_variantE122D366G>C
GBM-US93325898433258984single base substitutionCGmissense_variantE128D384G>C
GBM-US93325898433258984single base substitutionCGmissense_variantE237D711G>C
GBM-US93325898433258984single base substitutionCGupstream_gene_variant
GBM-US93325902033259020single base substitutionCAdownstream_gene_variant
GBM-US93325902033259020single base substitutionCAexon_variant
GBM-US93325902033259020single base substitutionCAmissense_variantQ110H330G>T
GBM-US93325902033259020single base substitutionCAmissense_variantQ116H348G>T
GBM-US93325902033259020single base substitutionCAmissense_variantQ225H675G>T
GBM-US93325902033259020single base substitutionCAupstream_gene_variant
KIRP-US93324670233246702single base substitutionAGdownstream_gene_variant
LAML-KR93325416333254163single base substitutionAT3_prime_UTR_variant
LAML-KR93325416333254163single base substitutionATdownstream_gene_variant
LAML-KR93325416333254163single base substitutionATintron_variant
LICA-CN93326446833264468single base substitutionTA5_prime_UTR_premature_start_codon_gain_variant
LICA-CN93326446833264468single base substitutionTAmissense_variantR69W205A>T
LICA-CN93326446833264468single base substitutionTAupstream_gene_variant
LICA-FR93324715933247159insertion of <=200bp-TTdownstream_gene_variant
LICA-FR93325353433253534single base substitutionTC3_prime_UTR_variant
LICA-FR93325353433253534single base substitutionTCdownstream_gene_variant
LICA-FR93325353433253534single base substitutionTCintron_variant
LINC-JP93324699133246991single base substitutionAGdownstream_gene_variant
LINC-JP93325416333254163single base substitutionAT3_prime_UTR_variant
LINC-JP93325416333254163single base substitutionATdownstream_gene_variant
LINC-JP93325416333254163single base substitutionATintron_variant
LINC-JP93325590933255909insertion of <=200bp-A3_prime_UTR_variant
LINC-JP93325590933255909insertion of <=200bp-Adownstream_gene_variant
LINC-JP93325590933255909insertion of <=200bp-Aexon_variant
LINC-JP93325590933255909insertion of <=200bp-Aframeshift_variantF186F?
LINC-JP93325590933255909insertion of <=200bp-Aframeshift_variantF301F?
LINC-JP93325692233256922single base substitutionGAdownstream_gene_variant
LINC-JP93325692233256922single base substitutionGAexon_variant
LINC-JP93325692233256922single base substitutionGAintron_variant
LINC-JP93325692233256922single base substitutionGAupstream_gene_variant
LINC-JP93326415233264152single base substitutionGAintron_variant
LINC-JP93326415233264152single base substitutionGAupstream_gene_variant
LINC-JP93326464233264642insertion of <=200bp-GG5_prime_UTR_variant
LINC-JP93326464233264642insertion of <=200bp-GGframeshift_variantR11P?
LINC-JP93326464233264642insertion of <=200bp-GGupstream_gene_variant
LIRI-JP93324427733244277single base substitutionCAdownstream_gene_variant
LIRI-JP93324455133244551single base substitutionTCdownstream_gene_variant
LIRI-JP93324906433249064single base substitutionAGdownstream_gene_variant
LIRI-JP93324906433249064single base substitutionAGintron_variant
LIRI-JP93325146033251460single base substitutionGCdownstream_gene_variant
LIRI-JP93325146033251460single base substitutionGCintron_variant
LIRI-JP93325228933252289single base substitutionGAdownstream_gene_variant
LIRI-JP93325228933252289single base substitutionGAintron_variant
LIRI-JP93325450433254504single base substitutionCT3_prime_UTR_variant
LIRI-JP93325450433254504single base substitutionCTdownstream_gene_variant
LIRI-JP93325450433254504single base substitutionCTintron_variant
LIRI-JP93325483133254831single base substitutionCA3_prime_UTR_variant
LIRI-JP93325483133254831single base substitutionCAdownstream_gene_variant
LIRI-JP93325483133254831single base substitutionCAintron_variant
LIRI-JP93325490333254903single base substitutionTC3_prime_UTR_variant
LIRI-JP93325490333254903single base substitutionTCdownstream_gene_variant
LIRI-JP93325490333254903single base substitutionTCintron_variant
LIRI-JP93325548133255481single base substitutionTCdownstream_gene_variant
LIRI-JP93325548133255481single base substitutionTCintron_variant
LIRI-JP93325588633255886single base substitutionTC3_prime_UTR_variant
LIRI-JP93325588633255886single base substitutionTCdownstream_gene_variant
LIRI-JP93325588633255886single base substitutionTCexon_variant
LIRI-JP93325588633255886single base substitutionTCmissense_variantK194E580A>G
LIRI-JP93325588633255886single base substitutionTCmissense_variantK309E925A>G
LIRI-JP93325658033256580single base substitutionCTdownstream_gene_variant
LIRI-JP93325658033256580single base substitutionCTintron_variant
LIRI-JP93325673633256736single base substitutionGCdownstream_gene_variant
LIRI-JP93325673633256736single base substitutionGCintron_variant
LIRI-JP93325736533257365single base substitutionTCdownstream_gene_variant
LIRI-JP93325736533257365single base substitutionTCexon_variant
LIRI-JP93325736533257365single base substitutionTCintron_variant
LIRI-JP93325736533257365single base substitutionTCupstream_gene_variant
LIRI-JP93326327733263277single base substitutionCTintron_variant
LIRI-JP93326327733263277single base substitutionCTupstream_gene_variant
LIRI-JP93326391033263910deletion of <=200bpA-intron_variant
LIRI-JP93326391033263910deletion of <=200bpA-upstream_gene_variant
LIRI-JP93326803133268031single base substitutionACupstream_gene_variant
LUSC-KR93324399533243995single base substitutionGCdownstream_gene_variant
LUSC-KR93324905533249055single base substitutionTGdownstream_gene_variant
LUSC-KR93324905533249055single base substitutionTGintron_variant
LUSC-KR93325074633250746single base substitutionCGdownstream_gene_variant
LUSC-KR93325074633250746single base substitutionCGintron_variant
LUSC-KR93325103933251039single base substitutionCGdownstream_gene_variant
LUSC-KR93325103933251039single base substitutionCGintron_variant
LUSC-KR93325189733251897single base substitutionCAdownstream_gene_variant
LUSC-KR93325189733251897single base substitutionCAintron_variant
LUSC-KR93325189933251899single base substitutionCTdownstream_gene_variant
LUSC-KR93325189933251899single base substitutionCTintron_variant
LUSC-KR93325516333255163single base substitutionGA3_prime_UTR_variant
LUSC-KR93325516333255163single base substitutionGAdownstream_gene_variant
LUSC-KR93325516333255163single base substitutionGAexon_variant
LUSC-KR93325516333255163single base substitutionGAintron_variant
LUSC-KR93325617933256179single base substitutionTGdownstream_gene_variant
LUSC-KR93325617933256179single base substitutionTGintron_variant
LUSC-KR93325857533258575single base substitutionCAdownstream_gene_variant
LUSC-KR93325857533258575single base substitutionCAintron_variant
LUSC-KR93325857533258575single base substitutionCAupstream_gene_variant
LUSC-KR93325868633258686single base substitutionCGdownstream_gene_variant
LUSC-KR93325868633258686single base substitutionCGintron_variant
LUSC-KR93325868633258686single base substitutionCGupstream_gene_variant
LUSC-KR93326616833266168single base substitutionTGupstream_gene_variant
LUSC-US93324668033246680single base substitutionGCdownstream_gene_variant
LUSC-US93325681633256816single base substitutionCT3_prime_UTR_variant
LUSC-US93325681633256816single base substitutionCTdownstream_gene_variant
LUSC-US93325681633256816single base substitutionCTexon_variant
LUSC-US93325681633256816single base substitutionCTmissense_variantE175K523G>A
LUSC-US93325681633256816single base substitutionCTmissense_variantE290K868G>A
LUSC-US93325681633256816single base substitutionCTupstream_gene_variant
MALY-DE93324797933247979single base substitutionGAdownstream_gene_variant
MALY-DE93324797933247979single base substitutionGAexon_variant
MALY-DE93325720833257208single base substitutionTGdownstream_gene_variant
MALY-DE93325720833257208single base substitutionTGexon_variant
MALY-DE93325720833257208single base substitutionTGintron_variant
MALY-DE93325720833257208single base substitutionTGupstream_gene_variant
MALY-DE93326449533264495single base substitutionTA5_prime_UTR_variant
MALY-DE93326449533264495single base substitutionTAmissense_variantT60S178A>T
MALY-DE93326449533264495single base substitutionTAupstream_gene_variant
MELA-AU93324282433242824single base substitutionGAdownstream_gene_variant
MELA-AU93324304433243044single base substitutionAGdownstream_gene_variant
MELA-AU93324329133243291single base substitutionGAdownstream_gene_variant
MELA-AU93324349833243498single base substitutionGTdownstream_gene_variant
MELA-AU93324400633244006single base substitutionGAdownstream_gene_variant
MELA-AU93324408333244083single base substitutionGAdownstream_gene_variant
MELA-AU93324415033244150single base substitutionCTdownstream_gene_variant
MELA-AU93324531833245318single base substitutionGAdownstream_gene_variant
MELA-AU93324550633245506single base substitutionGAdownstream_gene_variant
MELA-AU93324564133245641single base substitutionGAdownstream_gene_variant
MELA-AU93324571833245718single base substitutionCTdownstream_gene_variant
MELA-AU93324618133246181single base substitutionGAdownstream_gene_variant
MELA-AU93324695333246953single base substitutionCTdownstream_gene_variant
MELA-AU93324760833247608single base substitutionGTdownstream_gene_variant
MELA-AU93324763233247632single base substitutionGAdownstream_gene_variant
MELA-AU93324776033247760single base substitutionGAdownstream_gene_variant
MELA-AU93324801033248010single base substitutionGAdownstream_gene_variant
MELA-AU93324801033248010single base substitutionGAexon_variant
MELA-AU93324803233248032single base substitutionCTdownstream_gene_variant
MELA-AU93324803233248032single base substitutionCTexon_variant
MELA-AU93324850733248507single base substitutionGAdownstream_gene_variant
MELA-AU93324850733248507single base substitutionGAintron_variant
MELA-AU93324986133249861single base substitutionGAdownstream_gene_variant
MELA-AU93324986133249861single base substitutionGAintron_variant
MELA-AU93324992633249926single base substitutionCTdownstream_gene_variant
MELA-AU93324992633249926single base substitutionCTintron_variant
MELA-AU93325113333251134multiple base substitution (>=2bp and <=200bp)CCTTdownstream_gene_variant
MELA-AU93325113333251134multiple base substitution (>=2bp and <=200bp)CCTTintron_variant
MELA-AU93325126033251260single base substitutionGAdownstream_gene_variant
MELA-AU93325126033251260single base substitutionGAintron_variant
MELA-AU93325146333251463single base substitutionGAdownstream_gene_variant
MELA-AU93325146333251463single base substitutionGAintron_variant
MELA-AU93325172233251722single base substitutionTCdownstream_gene_variant
MELA-AU93325172233251722single base substitutionTCintron_variant
MELA-AU93325172933251729single base substitutionGAdownstream_gene_variant
MELA-AU93325172933251729single base substitutionGAintron_variant
MELA-AU93325188633251886single base substitutionGAdownstream_gene_variant
MELA-AU93325188633251886single base substitutionGAintron_variant
MELA-AU93325286133252861single base substitutionGA3_prime_UTR_variant
MELA-AU93325286133252861single base substitutionGAdownstream_gene_variant
MELA-AU93325286133252861single base substitutionGAintron_variant
MELA-AU93325293833252938single base substitutionGA3_prime_UTR_variant
MELA-AU93325293833252938single base substitutionGAdownstream_gene_variant
MELA-AU93325293833252938single base substitutionGAintron_variant
MELA-AU93325335933253359single base substitutionCT3_prime_UTR_variant
MELA-AU93325335933253359single base substitutionCTdownstream_gene_variant
MELA-AU93325335933253359single base substitutionCTintron_variant
MELA-AU93325432033254320single base substitutionGA3_prime_UTR_variant
MELA-AU93325432033254320single base substitutionGAdownstream_gene_variant
MELA-AU93325432033254320single base substitutionGAintron_variant
MELA-AU93325586533255865single base substitutionGAdownstream_gene_variant
MELA-AU93325586533255865single base substitutionGAexon_variant
MELA-AU93325586533255865single base substitutionGAsplice_region_variant
MELA-AU93325586533255865single base substitutionGAstop_gainedQ201*601C>T
MELA-AU93325586533255865single base substitutionGAstop_gainedQ316*946C>T
MELA-AU93325592333255923single base substitutionGAdownstream_gene_variant
MELA-AU93325592333255923single base substitutionGAsplice_region_variant
MELA-AU93325607833256078single base substitutionGAdownstream_gene_variant
MELA-AU93325607833256078single base substitutionGAintron_variant
MELA-AU93325647533256475single base substitutionGAdownstream_gene_variant
MELA-AU93325647533256475single base substitutionGAintron_variant
MELA-AU93325677533256775single base substitutionCTdownstream_gene_variant
MELA-AU93325677533256775single base substitutionCTintron_variant
MELA-AU93325828433258284single base substitutionGAdownstream_gene_variant
MELA-AU93325828433258284single base substitutionGAintron_variant
MELA-AU93325828433258284single base substitutionGAupstream_gene_variant
MELA-AU93326054733260547single base substitutionGAdownstream_gene_variant
MELA-AU93326054733260547single base substitutionGAintron_variant
MELA-AU93326054733260547single base substitutionGAupstream_gene_variant
MELA-AU93326062733260627single base substitutionAGdownstream_gene_variant
MELA-AU93326062733260627single base substitutionAGintron_variant
MELA-AU93326062733260627single base substitutionAGupstream_gene_variant
MELA-AU93326154333261543single base substitutionGAdownstream_gene_variant
MELA-AU93326154333261543single base substitutionGAintron_variant
MELA-AU93326154333261543single base substitutionGAupstream_gene_variant
MELA-AU93326210833262108single base substitutionGAdownstream_gene_variant
MELA-AU93326210833262108single base substitutionGAexon_variant
MELA-AU93326210833262108single base substitutionGAintron_variant
MELA-AU93326210833262108single base substitutionGAupstream_gene_variant
MELA-AU93326211133262111single base substitutionGAdownstream_gene_variant
MELA-AU93326211133262111single base substitutionGAexon_variant
MELA-AU93326211133262111single base substitutionGAintron_variant
MELA-AU93326211133262111single base substitutionGAupstream_gene_variant
MELA-AU93326219933262199single base substitutionGAdownstream_gene_variant
MELA-AU93326219933262199single base substitutionGAexon_variant
MELA-AU93326219933262199single base substitutionGAintron_variant
MELA-AU93326219933262199single base substitutionGAupstream_gene_variant
MELA-AU93326326533263265single base substitutionGAintron_variant
MELA-AU93326326533263265single base substitutionGAupstream_gene_variant
MELA-AU93326335333263353single base substitutionCTintron_variant
MELA-AU93326335333263353single base substitutionCTupstream_gene_variant
MELA-AU93326414333264143single base substitutionGAintron_variant
MELA-AU93326414333264143single base substitutionGAupstream_gene_variant
MELA-AU93326469133264691single base substitutionCT5_prime_UTR_variant
MELA-AU93326469133264691single base substitutionCTupstream_gene_variant
MELA-AU93326492533264925single base substitutionGAupstream_gene_variant
MELA-AU93326500133265001single base substitutionGAupstream_gene_variant
MELA-AU93326542033265420single base substitutionCTupstream_gene_variant
MELA-AU93326545833265458single base substitutionCTupstream_gene_variant
MELA-AU93326702933267029single base substitutionACupstream_gene_variant
MELA-AU93326723233267232single base substitutionCTupstream_gene_variant
MELA-AU93326726633267266single base substitutionGAupstream_gene_variant
MELA-AU93326804733268047single base substitutionTCupstream_gene_variant
MELA-AU93326814633268146single base substitutionGTupstream_gene_variant
MELA-AU93326973733269738multiple base substitution (>=2bp and <=200bp)CCTTupstream_gene_variant
MELA-AU93326973833269738single base substitutionCAupstream_gene_variant
ORCA-IN93326309933263099single base substitutionAGintron_variant
ORCA-IN93326309933263099single base substitutionAGupstream_gene_variant
ORCA-IN93326437533264375single base substitutionAC5_prime_UTR_variant
ORCA-IN93326437533264375single base substitutionACmissense_variantW100G298T>G
ORCA-IN93326437533264375single base substitutionACupstream_gene_variant
ORCA-IN93326545833265458single base substitutionCAupstream_gene_variant
OV-AU93324319233243192single base substitutionCAdownstream_gene_variant
OV-AU93325252833252528single base substitutionCG3_prime_UTR_variant
OV-AU93325252833252528single base substitutionCGdownstream_gene_variant
OV-AU93325252833252528single base substitutionCGintron_variant
OV-AU93325471333254713single base substitutionTC3_prime_UTR_variant
OV-AU93325471333254713single base substitutionTCdownstream_gene_variant
OV-AU93325471333254713single base substitutionTCintron_variant
OV-AU93325771733257717single base substitutionGCdownstream_gene_variant
OV-AU93325771733257717single base substitutionGCintron_variant
OV-AU93325771733257717single base substitutionGCupstream_gene_variant
OV-AU93325899933258999single base substitutionCA3_prime_UTR_variant
OV-AU93325899933258999single base substitutionCAdownstream_gene_variant
OV-AU93325899933258999single base substitutionCAexon_variant
OV-AU93325899933258999single base substitutionCAmissense_variantK117N351G>T
OV-AU93325899933258999single base substitutionCAmissense_variantK123N369G>T
OV-AU93325899933258999single base substitutionCAmissense_variantK232N696G>T
OV-AU93325899933258999single base substitutionCAupstream_gene_variant
OV-AU93326651533266515single base substitutionCAupstream_gene_variant
OV-AU93326672933266729single base substitutionCGupstream_gene_variant
OV-AU93326948833269488single base substitutionCGupstream_gene_variant
OV-US93325526433255264single base substitutionGA3_prime_UTR_variant
OV-US93325526433255264single base substitutionGAdownstream_gene_variant
OV-US93325526433255264single base substitutionGAexon_variant
OV-US93325526433255264single base substitutionGAintron_variant
OV-US93325526433255264single base substitutionGAstop_gainedQ216*646C>T
OV-US93325526433255264single base substitutionGAstop_gainedQ331*991C>T
OV-US93326786233267862single base substitutionGAupstream_gene_variant
PACA-AU93324445333244453single base substitutionAGdownstream_gene_variant
PACA-AU93324479733244797single base substitutionGAdownstream_gene_variant
PACA-AU93324853133248531single base substitutionGCdownstream_gene_variant
PACA-AU93324853133248531single base substitutionGCintron_variant
PACA-AU93324878833248788single base substitutionCAdownstream_gene_variant
PACA-AU93324878833248788single base substitutionCAintron_variant
PACA-AU93324936733249367deletion of <=200bpC-downstream_gene_variant
PACA-AU93324936733249367deletion of <=200bpC-intron_variant
PACA-AU93325224133252241single base substitutionCAdownstream_gene_variant
PACA-AU93325224133252241single base substitutionCAintron_variant
PACA-AU93325255533252555single base substitutionTA3_prime_UTR_variant
PACA-AU93325255533252555single base substitutionTAdownstream_gene_variant
PACA-AU93325255533252555single base substitutionTAintron_variant
PACA-AU93325412633254126single base substitutionCT3_prime_UTR_variant
PACA-AU93325412633254126single base substitutionCTdownstream_gene_variant
PACA-AU93325412633254126single base substitutionCTintron_variant
PACA-AU93325681633256816single base substitutionCT3_prime_UTR_variant
PACA-AU93325681633256816single base substitutionCTdownstream_gene_variant
PACA-AU93325681633256816single base substitutionCTexon_variant
PACA-AU93325681633256816single base substitutionCTmissense_variantE175K523G>A
PACA-AU93325681633256816single base substitutionCTmissense_variantE290K868G>A
PACA-AU93325681633256816single base substitutionCTupstream_gene_variant
PACA-AU93326191233261912single base substitutionCTdownstream_gene_variant
PACA-AU93326191233261912single base substitutionCTintron_variant
PACA-AU93326191233261912single base substitutionCTupstream_gene_variant
PACA-AU93326206533262065single base substitutionGAdownstream_gene_variant
PACA-AU93326206533262065single base substitutionGAintron_variant
PACA-AU93326206533262065single base substitutionGAupstream_gene_variant
PACA-AU93326233733262337single base substitutionCAdownstream_gene_variant
PACA-AU93326233733262337single base substitutionCAintron_variant
PACA-AU93326233733262337single base substitutionCAupstream_gene_variant
PACA-AU93326467433264674single base substitutionCT5_prime_UTR_variant
PACA-AU93326467433264674single base substitutionCTupstream_gene_variant
PACA-CA93324283733242840deletion of <=200bpGTCA-downstream_gene_variant
PACA-CA93324412333244123single base substitutionCTdownstream_gene_variant
PACA-CA93324542133245421deletion of <=200bpC-downstream_gene_variant
PACA-CA93324663733246637single base substitutionGAdownstream_gene_variant
PACA-CA93325019533250196deletion of <=200bpAG-downstream_gene_variant
PACA-CA93325019533250196deletion of <=200bpAG-intron_variant
PACA-CA93325525233255252single base substitutionGA3_prime_UTR_variant
PACA-CA93325525233255252single base substitutionGAdownstream_gene_variant
PACA-CA93325525233255252single base substitutionGAexon_variant
PACA-CA93325525233255252single base substitutionGAintron_variant
PACA-CA93325525233255252single base substitutionGAmissense_variantR220W658C>T
PACA-CA93325525233255252single base substitutionGAmissense_variantR335W1003C>T
PACA-CA93325909833259098single base substitutionCAdownstream_gene_variant
PACA-CA93325909833259098single base substitutionCAexon_variant
PACA-CA93325909833259098single base substitutionCAintron_variant
PACA-CA93325909833259098single base substitutionCAupstream_gene_variant
PACA-CA93326110533261105single base substitutionCTdownstream_gene_variant
PACA-CA93326110533261105single base substitutionCTexon_variant
PACA-CA93326110533261105single base substitutionCTmissense_variantV100I298G>A
PACA-CA93326110533261105single base substitutionCTmissense_variantV106I316G>A
PACA-CA93326110533261105single base substitutionCTmissense_variantV215I643G>A
PACA-CA93326110533261105single base substitutionCTupstream_gene_variant
PACA-CA93326735033267350single base substitutionCGupstream_gene_variant
PAEN-AU93325255533252555single base substitutionTA3_prime_UTR_variant
PAEN-AU93325255533252555single base substitutionTAdownstream_gene_variant
PAEN-AU93325255533252555single base substitutionTAintron_variant
PBCA-DE93324592033245920single base substitutionAGdownstream_gene_variant
PBCA-DE93325714733257147single base substitutionCTdownstream_gene_variant
PBCA-DE93325714733257147single base substitutionCTexon_variant
PBCA-DE93325714733257147single base substitutionCTintron_variant
PBCA-DE93325714733257147single base substitutionCTupstream_gene_variant
PBCA-DE93326631533266315insertion of <=200bp-Aupstream_gene_variant
PRAD-UK93324403133244031single base substitutionGAdownstream_gene_variant
PRAD-US93324662333246623single base substitutionGAdownstream_gene_variant
READ-US93326454033264540single base substitutionCG5_prime_UTR_variant
READ-US93326454033264540single base substitutionCGmissense_variantG45R133G>C
READ-US93326454033264540single base substitutionCGupstream_gene_variant
RECA-EU93325977833259778single base substitutionCTdownstream_gene_variant
RECA-EU93325977833259778single base substitutionCTexon_variant
RECA-EU93325977833259778single base substitutionCTintron_variant
RECA-EU93325977833259778single base substitutionCTupstream_gene_variant
RECA-EU93326129933261299single base substitutionCGdownstream_gene_variant
RECA-EU93326129933261299single base substitutionCGintron_variant
RECA-EU93326129933261299single base substitutionCGupstream_gene_variant
RECA-EU93326910333269103single base substitutionACupstream_gene_variant
SKCA-BR93324484633244846single base substitutionCTdownstream_gene_variant
SKCA-BR93324728133247281single base substitutionGAdownstream_gene_variant
SKCA-BR93324738833247388single base substitutionACdownstream_gene_variant
SKCA-BR93325190333251903single base substitutionCTdownstream_gene_variant
SKCA-BR93325190333251903single base substitutionCTintron_variant
SKCA-BR93325382533253825single base substitutionCT3_prime_UTR_variant
SKCA-BR93325382533253825single base substitutionCTdownstream_gene_variant
SKCA-BR93325382533253825single base substitutionCTintron_variant
SKCA-BR93325414233254142insertion of <=200bp-AT3_prime_UTR_variant
SKCA-BR93325414233254142insertion of <=200bp-ATdownstream_gene_variant
SKCA-BR93325414233254142insertion of <=200bp-ATintron_variant
SKCA-BR93325574333255743single base substitutionAGdownstream_gene_variant
SKCA-BR93325574333255743single base substitutionAGintron_variant
SKCA-BR93325760633257606single base substitutionGTdownstream_gene_variant
SKCA-BR93325760633257606single base substitutionGTexon_variant
SKCA-BR93325760633257606single base substitutionGTintron_variant
SKCA-BR93325760633257606single base substitutionGTupstream_gene_variant
SKCA-BR93325849833258498single base substitutionCTdownstream_gene_variant
SKCA-BR93325849833258498single base substitutionCTintron_variant
SKCA-BR93325849833258498single base substitutionCTupstream_gene_variant
SKCA-BR93326416833264168single base substitutionACintron_variant
SKCA-BR93326416833264168single base substitutionACupstream_gene_variant
SKCA-BR93326487433264874single base substitutionCTupstream_gene_variant
SKCA-BR93326520033265200single base substitutionGCupstream_gene_variant
SKCA-BR93326521033265210single base substitutionACupstream_gene_variant
SKCA-BR93326582633265826single base substitutionTGupstream_gene_variant
SKCA-BR93326585333265853single base substitutionTGupstream_gene_variant
SKCA-BR93326595133265951single base substitutionCTupstream_gene_variant
SKCM-US93324663233246632single base substitutionGAdownstream_gene_variant
SKCM-US93324668333246683single base substitutionGAdownstream_gene_variant
SKCM-US93324845933248459single base substitutionGAdownstream_gene_variant
SKCM-US93324845933248459single base substitutionGAintron_variant
SKCM-US93326454533264545single base substitutionGA5_prime_UTR_variant
SKCM-US93326454533264545single base substitutionGAmissense_variantP43L128C>T
SKCM-US93326454533264545single base substitutionGAupstream_gene_variant
STAD-US93324663433246635deletion of <=200bpAG-downstream_gene_variant
STAD-US93324672333246723single base substitutionGAdownstream_gene_variant
STAD-US93326117033261170deletion of <=200bpA-downstream_gene_variant
STAD-US93326117033261170deletion of <=200bpA-splice_region_variant
STAD-US93326117033261170deletion of <=200bpA-upstream_gene_variant
STAD-US93326439333264393single base substitutionGT5_prime_UTR_premature_start_codon_gain_variant
STAD-US93326439333264393single base substitutionGTmissense_variantL94M280C>A
STAD-US93326439333264393single base substitutionGTupstream_gene_variant
STAD-US93326507533265075single base substitutionATupstream_gene_variant
UCEC-US93324513033245130single base substitutionACdownstream_gene_variant
UCEC-US93325522433255224single base substitutionGA3_prime_UTR_variant
UCEC-US93325522433255224single base substitutionGAdownstream_gene_variant
UCEC-US93325522433255224single base substitutionGAexon_variant
UCEC-US93325522433255224single base substitutionGAintron_variant
UCEC-US93325522433255224single base substitutionGAmissense_variantA229V686C>T
UCEC-US93325522433255224single base substitutionGAmissense_variantA344V1031C>T
UCEC-US93325527233255272single base substitutionTC3_prime_UTR_variant
UCEC-US93325527233255272single base substitutionTCdownstream_gene_variant
UCEC-US93325527233255272single base substitutionTCexon_variant
UCEC-US93325527233255272single base substitutionTCintron_variant
UCEC-US93325527233255272single base substitutionTCmissense_variantN213S638A>G
UCEC-US93325527233255272single base substitutionTCmissense_variantN328S983A>G
UCEC-US93325591033255910single base substitutionAC3_prime_UTR_variant
UCEC-US93325591033255910single base substitutionACdownstream_gene_variant
UCEC-US93325591033255910single base substitutionACexon_variant
UCEC-US93325591033255910single base substitutionACmissense_variantF186V556T>G
UCEC-US93325591033255910single base substitutionACmissense_variantF301V901T>G
UCEC-US93326445333264453single base substitutionTC5_prime_UTR_variant
UCEC-US93326445333264453single base substitutionTCmissense_variantK74E220A>G
UCEC-US93326445333264453single base substitutionTCupstream_gene_variant
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
HCT-15COSM1674455c.1030G>Ap.A344TSubstitution - Missense9:33255227-33255227-
LP6005409-DNA_C04COSM5953583c.361G>Tp.E121*Substitution - Nonsense9:33264314-33264314-
HCT15COSM1674455c.1030G>Ap.A344TSubstitution - Missense9:33255227-33255227-
I2L-P19Tb-Tumor-OrganoidCOSM5359390c.774G>Ap.Q258QSubstitution - coding silent9:33258923-33258923-
Au4COSM5602883c.888C>Tp.I296ISubstitution - coding silent9:33255925-33255925-
LS180COSM2772485c.465C>Tp.H155HSubstitution - coding silent9:33262817-33262817-
TCGA-D3-A2JH-06COSM3656912c.128C>Tp.P43LSubstitution - Missense9:33264547-33264547-
G5COSM1191718c.374A>Gp.D125GSubstitution - Missense9:33264301-33264301-
PTC-7CCOSM4163730c.405C>Ap.T135TSubstitution - coding silent9:33264270-33264270-
G18COSM1191718c.374A>Gp.D125GSubstitution - Missense9:33264301-33264301-
TCGA-06-0171COSM2150313c.745G>Cp.E249QSubstitution - Missense9:33258952-33258952-
STC232COSM287280c.941_942insAp.V315fs*9Insertion - Frameshift9:33255871-33255872-
ASHPC_0009_Pa_PCOSM3782227c.643G>Ap.V215ISubstitution - Missense9:33261107-33261107-
Pat_26_BCOSM1462064c.941delAp.K314fs*6Deletion - Frameshift9:33255872-33255872-
T1154COSM4665004c.658A>Gp.K220ESubstitution - Missense9:33261092-33261092-
TCGA-B0-5098-01COSM1184362c.422C>Tp.A141VSubstitution - Missense9:33264253-33264253-
G5COSM1191819c.373G>Ap.D125NSubstitution - Missense9:33264302-33264302-
RK237_C01COSM4779808c.925A>Gp.K309ESubstitution - Missense9:33255888-33255888-
TCGA-B5-A11H-01COSM1108302c.220A>Gp.K74ESubstitution - Missense9:33264455-33264455-
PTC-7CCOSM4163728c.406A>Tp.R136WSubstitution - Missense9:33264269-33264269-
I2L-P19Tb-Tumor-BiopsyCOSM5359390c.774G>Ap.Q258QSubstitution - coding silent9:33258923-33258923-
B85-0COSM1756127c.383C>Tp.S128LSubstitution - Missense9:33264292-33264292-
DLD1COSM1674455c.1030G>Ap.A344TSubstitution - Missense9:33255227-33255227-
TCGA-AA-A01Q-01COSM287280c.941_942insAp.V315fs*9Insertion - Frameshift9:33255871-33255872-
TCGA-CD-A4MG-01COSM3906881c.280C>Ap.L94MSubstitution - Missense9:33264395-33264395-
HCT15COSM2772477c.789C>Tp.P263PSubstitution - coding silent9:33256897-33256897-
LS174TCOSM2772485c.465C>Tp.H155HSubstitution - coding silent9:33262817-33262817-
TCGA-AX-A05Z-01COSM1108300c.901T>Gp.F301VSubstitution - Missense9:33255912-33255912-
TCGA-D1-A17H-01COSM1108296c.1031C>Tp.A344VSubstitution - Missense9:33255226-33255226-
OSCC-GB_00360111COSM3718712c.298T>Gp.W100GSubstitution - Missense9:33264377-33264377-
PD11369aCOSM2772482c.553_554delCAp.Q185fs*8Deletion - Frameshift9:33262728-33262729-
U2940COSM2772489c.263G>Tp.R88LSubstitution - Missense9:33264412-33264412-
AOCS-152-1-XCOSM4152249c.696G>Tp.K232NSubstitution - Missense9:33259001-33259001-
TCGA-CA-6717-01COSM1462063c.945T>Cp.V315VSubstitution - coding silent9:33255868-33255868-
TCGA-AG-3999-01COSM289195c.243C>Tp.T81TSubstitution - coding silent9:33264432-33264432-
587332COSM1184362c.422C>Tp.A141VSubstitution - Missense9:33264253-33264253-
8031085COSM753616c.868G>Ap.E290KSubstitution - Missense9:33256818-33256818-
TCGA-FD-A3SO-01COSM3779949c.823G>Ap.D275NSubstitution - Missense9:33256863-33256863-
TCGA-06-0171-02COSM2150313c.745G>Cp.E249QSubstitution - Missense9:33258952-33258952-
LIM2551COSM4644925c.608C>Tp.P203LSubstitution - Missense9:33261142-33261142-
pfg129TCOSM3782226c.1003C>Tp.R335WSubstitution - Missense9:33255254-33255254-
HCC063TCOSM5812201c.205A>Tp.R69WSubstitution - Missense9:33264470-33264470-
CSCC-47-TCOSM4553794c.601G>Ap.E201KSubstitution - Missense9:33261149-33261149-
TCGA-06-0171COSM2150312c.711G>Cp.E237DSubstitution - Missense9:33258986-33258986-
PCSI_0076_Pa_XCOSM3782226c.1003C>Tp.R335WSubstitution - Missense9:33255254-33255254-
420COSM4432125c.32G>Ap.R11QSubstitution - Missense9:33264643-33264643-
PT48COSM5932363c.778-5C>Tp.?Unknown9:33256913-33256913-
TCGA-AH-6644-01COSM3750171c.133G>Cp.G45RSubstitution - Missense9:33264542-33264542-
T3202COSM4665006c.192C>Tp.A64ASubstitution - coding silent9:33264483-33264483-
ESCC_BICR_016TCOSM5439628c.960C>Tp.A320ASubstitution - coding silent9:33255297-33255297-
TCGA-06-0171-02COSM2150333c.675G>Tp.Q225HSubstitution - Missense9:33259022-33259022-
TCGA-18-3409-01COSM753616c.868G>Ap.E290KSubstitution - Missense9:33256818-33256818-
B85-0-TumorCOSM1756127c.383C>Tp.S128LSubstitution - Missense9:33264292-33264292-
TCGA-DK-A1AC-01COSM1314767c.219G>Ap.K73KSubstitution - coding silent9:33264456-33264456-
TCGA-BS-A0UJ-01COSM1108298c.983A>Gp.N328SSubstitution - Missense9:33255274-33255274-
Pat_63_BCOSM5876119c.388C>Tp.R130WSubstitution - Missense9:33264287-33264287-
I2L-P19Ta-Tumor-OrganoidCOSM5359089c.828_830delGAGp.R277delRDeletion - In frame9:33256856-33256858-
TCGA-06-0171-02COSM2150312c.711G>Cp.E237DSubstitution - Missense9:33258986-33258986-
LC_C13COSM1187698c.176C>Tp.P59LSubstitution - Missense9:33264499-33264499-
TCGA-04-1347-01COSM79140c.991C>Tp.Q331*Substitution - Nonsense9:33255266-33255266-
HCC49TCOSM1624908c.31_32insCCp.R11fs*63Insertion - Frameshift9:33264643-33264644-
TCGA-06-0171COSM2150333c.675G>Tp.Q225HSubstitution - Missense9:33259022-33259022-
TCGA-61-1740-01COSM1331577c.655G>Ap.G219RSubstitution - Missense9:33261095-33261095-
TCGA-A6-5666-01COSM3750171c.133G>Cp.G45RSubstitution - Missense9:33264542-33264542-
TCGA-A6-6780-01COSM1462064c.941delAp.K314fs*6Deletion - Frameshift9:33255872-33255872-
UM-SCC-2COSM4599201c.263_280del18p.R88_T93delRSEELTDeletion - In frame9:33264395-33264412-
Pat_31_BCOSM5876117c.641G>Ap.R214QSubstitution - Missense9:33261109-33261109-
TCGA-F4-6463-01COSM4599201c.263_280del18p.R88_T93delRSEELTDeletion - In frame9:33264395-33264412-
36TCOSM3718712c.298T>Gp.W100GSubstitution - Missense9:33264377-33264377-
T3080COSM4665002c.703C>Tp.H235YSubstitution - Missense9:33258994-33258994-
CSCC-47-TCOSM4519229c.593_594AG>GAp.K198RSubstitution - Missense9:33261156-33261157-
G18COSM1191819c.373G>Ap.D125NSubstitution - Missense9:33264302-33264302-
RMS10_COSM4985679c.626T>Cp.I209TSubstitution - Missense9:33261124-33261124-
I2L-P19Ta-Tumor-BiopsyCOSM5359089c.828_830delGAGp.R277delRDeletion - In frame9:33256856-33256858-
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.377419;Hs.3774849p126014972422482|dbSNP|BC001936|A/C|non-coding||1113|Candidate;
2422482|dbSNP|BC014774|A/C|non-coding||962|Candidate
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
CAMissensep.Q225Hc.675G>T933259020GBM
CGMissensep.E237Dc.711G>C933258984GBM
CGMissensep.E249Qc.745G>C933258950GBM
CGSynonymousp.R118Rc.354G>C933264319MM
CTSynonymousp.E115Ec.345G>A933264328LUAD
GAMissensep.A344Vc.1031C>T933255224UCEC
GAMissensep.P43Lc.128C>T933264545CM
GANonsensep.Q331*c.991C>T933255264OV
GASynonymousp.T81Tc.243C>T933264430COREAD
TAMissensep.N300Ic.899A>T933255912COREAD
TC3-UTRSNV.c.1035+317A>G933254903HC
TCMissensep.K74Ec.220A>G933264453UCEC