BMI1
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
ACC102261819222618192+Missense_MutationSNPGGTTCGA-OR-A5JA-01A-11D-A29I-10TCGA-OR-A5JA-10A-01D-A29L-10g.chr10:22618192G>Tc.702G>Tc.(700-702)atG>atTp.M234I
BLCA102261652622616526+Nonsense_MutationSNPCCGTCGA-BT-A20R-01A-12D-A16O-08TCGA-BT-A20R-11A-11D-A16O-08g.chr10:22616526C>Gc.212C>Gc.(211-213)tCa>tGap.S71*
BLCA102261671822616718+Missense_MutationSNPGGATCGA-K4-A5RH-01A-11D-A30E-08TCGA-K4-A5RH-10A-01D-A30H-08g.chr10:22616718G>Ac.313G>Ac.(313-315)Gat>Aatp.D105N
BLCA102261689122616891+Missense_MutationSNPCCGTCGA-BT-A20Q-01A-11D-A14W-08TCGA-BT-A20Q-11A-11D-A14W-08g.chr10:22616891C>Gc.329C>Gc.(328-330)tCt>tGtp.S110C
BLCA102261754822617548+Missense_MutationSNPTTCTCGA-UY-A78K-01A-11D-A339-08TCGA-UY-A78K-10A-01D-A339-08g.chr10:22617548T>Cc.491T>Cc.(490-492)tTa>tCap.L164S
BRCA102261583922615839+Missense_MutationSNPCCTTCGA-AN-A046-01A-21W-A050-09TCGA-AN-A046-10A-01W-A055-09g.chr10:22615839C>Tc.133C>Tc.(133-135)Cgt>Tgtp.R45C
BRCA102261654322616543+Missense_MutationSNPGGCTCGA-A2-A0YK-01A-22D-A117-09TCGA-A2-A0YK-10A-01D-A117-09g.chr10:22616543G>Cc.229G>Cc.(229-231)Gat>Catp.D77H
BRCA102261833622618336+SilentSNPTTGTCGA-E2-A1LA-01A-11D-A142-09TCGA-E2-A1LA-10A-01D-A142-09g.chr10:22618336T>Gc.846T>Gc.(844-846)ccT>ccGp.P282P
CESC102261689922616899+Missense_MutationSNPGGCTCGA-FU-A3HY-01A-11D-A21Q-09TCGA-FU-A3HY-10A-01D-A21Q-09g.chr10:22616899G>Cc.337G>Cc.(337-339)Gat>Catp.D113H
CESC102261823222618232+Missense_MutationSNPGGATCGA-DR-A0ZM-01A-12D-A10S-08TCGA-DR-A0ZM-10A-01D-A10S-08g.chr10:22618232G>Ac.742G>Ac.(742-744)Gaa>Aaap.E248K
CESC102261833722618337+Missense_MutationSNPCCTTCGA-IR-A3LI-01A-11D-A20U-09TCGA-IR-A3LI-10A-01D-A20U-09g.chr10:22618337C>Tc.847C>Tc.(847-849)Cat>Tatp.H283Y
CESC102261836022618360+SilentSNPCCTTCGA-C5-A2LZ-01A-11D-A20U-09TCGA-C5-A2LZ-10B-01D-A20U-09g.chr10:22618360C>Tc.870C>Tc.(868-870)tcC>tcTp.S290S
COAD102261539222615392+Missense_MutationSNPCCTTCGA-AA-3864-01A-01W-0995-10TCGA-AA-3864-10A-01W-0995-10g.chr10:22615392C>Tc.14C>Tc.(13-15)aCg>aTgp.T5M
COAD102261547622615476+Missense_MutationSNPAATTCGA-AA-3715-01A-01W-0900-09TCGA-AA-3715-10A-01W-0900-09g.chr10:22615476A>Tc.98A>Tc.(97-99)gAa>gTap.E33V
COAD102261653522616535+Missense_MutationSNPCCGTCGA-AA-3866-01A-01W-0995-10TCGA-AA-3866-10A-01W-0995-10g.chr10:22616535C>Gc.221C>Gc.(220-222)aCt>aGtp.T74S
COADREAD102261539222615392+Missense_MutationSNPCCTTCGA-AA-3864-01A-01W-0995-10TCGA-AA-3864-10A-01W-0995-10g.chr10:22615392C>Tc.14C>Tc.(13-15)aCg>aTgp.T5M
COADREAD102261547622615476+Missense_MutationSNPAATTCGA-AA-3715-01A-01W-0900-09TCGA-AA-3715-10A-01W-0900-09g.chr10:22615476A>Tc.98A>Tc.(97-99)gAa>gTap.E33V
COADREAD102261653522616535+Missense_MutationSNPCCGTCGA-AA-3866-01A-01W-0995-10TCGA-AA-3866-10A-01W-0995-10g.chr10:22616535C>Gc.221C>Gc.(220-222)aCt>aGtp.T74S
ESCA102261582422615824+Frame_Shift_DelDELAA-TCGA-L5-A4OI-01A-11D-A27G-09TCGA-L5-A4OI-11A-11D-A27G-09g.chr10:22615824delAc.118delAc.(118-120)aaafsp.K40fs
GBM102261548022615480+Missense_MutationSNPTTGTCGA-28-5211-01C-11D-1845-08TCGA-28-5211-10B-01D-1845-08g.chr10:22615480T>Gc.102T>Gc.(100-102)tgT>tgGp.C34W
GBM102261586222615862+Nonsense_MutationSNPTTGTCGA-06-0166-01A-01D-1491-08TCGA-06-0166-10A-01D-1491-08g.chr10:22615862T>Gc.156T>Gc.(154-156)taT>taGp.Y52*
GBM102261760922617609+SilentSNPCCTTCGA-06-2565-01A-01D-1494-08TCGA-06-2565-10A-01D-1494-08g.chr10:22617609C>Tc.552C>Tc.(550-552)gaC>gaTp.D184D
GBMLGG102261548022615480+Missense_MutationSNPTTGTCGA-28-5211-01C-11D-1845-08TCGA-28-5211-10B-01D-1845-08g.chr10:22615480T>Gc.102T>Gc.(100-102)tgT>tgGp.C34W
GBMLGG102261586222615862+Nonsense_MutationSNPTTGTCGA-06-0166-01A-01D-1491-08TCGA-06-0166-10A-01D-1491-08g.chr10:22615862T>Gc.156T>Gc.(154-156)taT>taGp.Y52*
GBMLGG102261692122616925+Frame_Shift_DelDELAAGATAAGAT-TCGA-DU-A76K-01A-11D-A33T-08TCGA-DU-A76K-10A-01D-A33W-08g.chr10:22616921_22616925delAAGATc.359_363delAAGATc.(358-363)gaagatfsp.ED120fs
GBMLGG102261760922617609+SilentSNPCCTTCGA-06-2565-01A-01D-1494-08TCGA-06-2565-10A-01D-1494-08g.chr10:22617609C>Tc.552C>Tc.(550-552)gaC>gaTp.D184D
GBMLGG102261823422618234+SilentSNPAAGTCGA-FG-A4MY-01A-11D-A26M-08TCGA-FG-A4MY-10A-01D-A26K-08g.chr10:22618234A>Gc.744A>Gc.(742-744)gaA>gaGp.E248E
HNSC102261833422618334+Missense_MutationSNPCCATCGA-CN-6023-01A-11D-1683-08TCGA-CN-6023-10A-01D-1683-08g.chr10:22618334C>Ac.844C>Ac.(844-846)Cct>Actp.P282T
HNSC102261835222618352+Missense_MutationSNPCCTTCGA-D6-A6ES-01A-12D-A31L-08TCGA-D6-A6ES-10A-01D-A31J-08g.chr10:22618352C>Tc.862C>Tc.(862-864)Cac>Tacp.H288Y
HNSC102261845222618452+Missense_MutationSNPCCTTCGA-CR-7394-01A-11D-2012-08TCGA-CR-7394-10A-01D-2013-08g.chr10:22618452C>Tc.962C>Tc.(961-963)tCa>tTap.S321L
KIPAN102261824622618246+Missense_MutationSNPCCGTCGA-IA-A40Y-01A-11D-A25F-10TCGA-IA-A40Y-10A-01D-A25F-10g.chr10:22618246C>Gc.756C>Gc.(754-756)gaC>gaGp.D252E
KIRP102261824622618246+Missense_MutationSNPCCGTCGA-IA-A40Y-01A-11D-A25F-10TCGA-IA-A40Y-10A-01D-A25F-10g.chr10:22618246C>Gc.756C>Gc.(754-756)gaC>gaGp.D252E
LGG102261692122616925+Frame_Shift_DelDELAAGATAAGAT-TCGA-DU-A76K-01A-11D-A33T-08TCGA-DU-A76K-10A-01D-A33W-08g.chr10:22616921_22616925delAAGATc.359_363delAAGATc.(358-363)gaagatfsp.ED120fs
LGG102261823422618234+SilentSNPAAGTCGA-FG-A4MY-01A-11D-A26M-08TCGA-FG-A4MY-10A-01D-A26K-08g.chr10:22618234A>Gc.744A>Gc.(742-744)gaA>gaGp.E248E
LIHC102261656322616563+SilentSNPTTCTCGA-DD-A39X-01A-11D-A20W-10TCGA-DD-A39X-11A-11D-A20W-10g.chr10:22616563T>Cc.249T>Cc.(247-249)gtT>gtCp.V83V
LIHC102261802422618024+SilentSNPAAGTCGA-BC-A10U-01A-11D-A12Z-10TCGA-BC-A10U-11A-11D-A12Z-10g.chr10:22618024A>Gc.618A>Gc.(616-618)ctA>ctGp.L206L
LIHC102261805422618054+SilentSNPAAGTCGA-G3-A3CG-01A-11D-A20W-10TCGA-G3-A3CG-10A-01D-A20W-10g.chr10:22618054A>Gc.648A>Gc.(646-648)agA>agGp.R216R
LIHC102261821222618212+Missense_MutationSNPAAGTCGA-DD-A3A0-01A-11D-A20W-10TCGA-DD-A3A0-11A-11D-A20W-10g.chr10:22618212A>Gc.722A>Gc.(721-723)gAt>gGtp.D241G
LUAD102261587822615878+Missense_MutationSNPGGTTCGA-69-7765-01A-11D-2167-08TCGA-69-7765-10A-01D-2167-08g.chr10:22615878G>Tc.172G>Tc.(172-174)Gtc>Ttcp.V58F
LUAD102261670622616706+Missense_MutationSNPCCTTCGA-99-8025-01A-11D-2238-08TCGA-99-8025-10A-01D-2238-08g.chr10:22616706C>Tc.301C>Tc.(301-303)Cat>Tatp.H101Y
LUAD102261691822616918+Missense_MutationSNPAATTCGA-50-5946-01A-11D-1753-08TCGA-50-5946-10A-01D-1753-08g.chr10:22616918A>Tc.356A>Tc.(355-357)gAt>gTtp.D119V
LUAD102261798522617985+SilentSNPCCTTCGA-55-A4DF-01A-11D-A24D-08TCGA-55-A4DF-10A-01D-A24F-08g.chr10:22617985C>Tc.579C>Tc.(577-579)gtC>gtTp.V193V
LUAD102261835522618355+Missense_MutationSNPAATTCGA-78-8662-01A-11D-2393-08TCGA-78-8662-10A-01D-2393-08g.chr10:22618355A>Tc.865A>Tc.(865-867)Att>Tttp.I289F
LUSC102261539322615393+SilentSNPGGTTCGA-85-6561-01A-11D-1817-08TCGA-85-6561-10A-01D-1817-08g.chr10:22615393G>Tc.15G>Tc.(13-15)acG>acTp.T5T
OV102261546422615464+Missense_MutationSNPCCATCGA-24-1567-01A-01W-0615-10TCGA-24-1567-10A-01W-0615-10g.chr10:22615464C>Ac.86C>Ac.(85-87)aCa>aAap.T29K
PAAD102261843422618434+Nonsense_MutationSNPCCATCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr10:22618434C>Ac.944C>Ac.(943-945)tCa>tAap.S315*
PRAD102261587422615874+Nonsense_MutationSNPTTATCGA-VP-A876-01A-11D-A34U-08TCGA-VP-A876-10A-01D-A34X-08g.chr10:22615874T>Ac.168T>Ac.(166-168)tgT>tgAp.C56*
SKCM102261583922615839+Missense_MutationSNPCCTTCGA-EE-A29C-06A-21D-A197-08TCGA-EE-A29C-10A-01D-A199-08g.chr10:22615839C>Tc.133C>Tc.(133-135)Cgt>Tgtp.R45C
SKCM102261696822616968+Missense_MutationSNPGGATCGA-FW-A3R5-06A-11D-A23B-08TCGA-FW-A3R5-10A-01D-A23B-08g.chr10:22616968G>Ac.406G>Ac.(406-408)Gaa>Aaap.E136K
SKCM102261707022617070+Missense_MutationSNPCCTTCGA-GF-A6C9-06A-11D-A30X-08TCGA-GF-A6C9-10A-01D-A30X-08g.chr10:22617070C>Tc.433C>Tc.(433-435)Cgg>Tggp.R145W
SKCM102261832222618322+Missense_MutationSNPCCTTCGA-EE-A2A0-06A-11D-A196-08TCGA-EE-A2A0-10A-01D-A198-08g.chr10:22618322C>Tc.832C>Tc.(832-834)Cca>Tcap.P278S
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BLCA-CN102260709522607095single base substitutionCTupstream_gene_variant
BLCA-CN102260774922607749single base substitutionTCupstream_gene_variant
BLCA-US102261652622616526single base substitutionCGdownstream_gene_variant
BLCA-US102261652622616526single base substitutionCGintron_variant
BLCA-US102261652622616526single base substitutionCGsplice_region_variant
BLCA-US102261652622616526single base substitutionCGstop_gainedS71*212C>G
BLCA-US102261652622616526single base substitutionCGupstream_gene_variant
BLCA-US102261689122616891single base substitutionCGdownstream_gene_variant
BLCA-US102261689122616891single base substitutionCGexon_variant
BLCA-US102261689122616891single base substitutionCGintron_variant
BLCA-US102261689122616891single base substitutionCGmissense_variantS110C329C>G
BRCA-EU102260580722605807single base substitutionCTupstream_gene_variant
BRCA-EU102260701422607014deletion of <=200bpT-upstream_gene_variant
BRCA-EU102260815822608158single base substitutionTAupstream_gene_variant
BRCA-EU102260832222608322single base substitutionGCupstream_gene_variant
BRCA-EU102260911722609132deletion of <=200bpAAGTATTTGAATCGTT-upstream_gene_variant
BRCA-EU102260916222609162single base substitutionGTupstream_gene_variant
BRCA-EU102261155422611554single base substitutionCGintron_variant
BRCA-EU102261155422611554single base substitutionCGupstream_gene_variant
BRCA-EU102261573822615738single base substitutionCTexon_variant
BRCA-EU102261573822615738single base substitutionCTintron_variant
BRCA-EU102261573822615738single base substitutionCTupstream_gene_variant
BRCA-EU102261620022616200single base substitutionGCdownstream_gene_variant
BRCA-EU102261620022616200single base substitutionGCintron_variant
BRCA-EU102261620022616200single base substitutionGCupstream_gene_variant
BRCA-EU102261667322616673single base substitutionGAdownstream_gene_variant
BRCA-EU102261667322616673single base substitutionGAexon_variant
BRCA-EU102261667322616673single base substitutionGAintron_variant
BRCA-EU102261667322616673single base substitutionGAmissense_variantE90K268G>A
BRCA-EU102261667322616673single base substitutionGAsplice_region_variant
BRCA-EU102261667322616673single base substitutionGAupstream_gene_variant
BRCA-EU102261706522617065single base substitutionTCdownstream_gene_variant
BRCA-EU102261706522617065single base substitutionTCexon_variant
BRCA-EU102261706522617065single base substitutionTCmissense_variantL143S428T>C
BRCA-EU102261706522617065single base substitutionTCmissense_variantL48S143T>C
BRCA-EU102261706522617065single base substitutionTCsplice_region_variant
BRCA-EU102261766122617661single base substitutionTAdownstream_gene_variant
BRCA-EU102261766122617661single base substitutionTAintron_variant
BRCA-EU102261883522618835single base substitutionTG3_prime_UTR_variant
BRCA-EU102261883522618835single base substitutionTGdownstream_gene_variant
BRCA-EU102261889522618895single base substitutionTG3_prime_UTR_variant
BRCA-EU102261889522618895single base substitutionTGdownstream_gene_variant
BRCA-EU102261940422619404single base substitutionTC3_prime_UTR_variant
BRCA-EU102261940422619404single base substitutionTCdownstream_gene_variant
BRCA-EU102262017422620174single base substitutionTC3_prime_UTR_variant
BRCA-EU102262017422620174single base substitutionTCdownstream_gene_variant
BRCA-EU102262136222621362single base substitutionCAdownstream_gene_variant
BRCA-EU102262181622621816single base substitutionAGdownstream_gene_variant
BRCA-EU102262306222623062single base substitutionACdownstream_gene_variant
BRCA-EU102262373422623734single base substitutionCTdownstream_gene_variant
BRCA-EU102262379322623793single base substitutionCAdownstream_gene_variant
BRCA-EU102262515222625152single base substitutionGAdownstream_gene_variant
BRCA-FR102261573822615738single base substitutionCTexon_variant
BRCA-FR102261573822615738single base substitutionCTintron_variant
BRCA-FR102261573822615738single base substitutionCTupstream_gene_variant
BRCA-FR102261832922618329single base substitutionACdownstream_gene_variant
BRCA-FR102261832922618329single base substitutionACexon_variant
BRCA-FR102261832922618329single base substitutionACmissense_variantQ280P839A>C
BRCA-FR102262173622621736single base substitutionTGdownstream_gene_variant
BRCA-KR102260764722607647single base substitutionACupstream_gene_variant
BRCA-US102260682622606826single base substitutionGAupstream_gene_variant
BRCA-US102260889622608896single base substitutionCTupstream_gene_variant
BRCA-US102261583922615839single base substitutionCTdownstream_gene_variant
BRCA-US102261583922615839single base substitutionCTexon_variant
BRCA-US102261583922615839single base substitutionCTmissense_variantR22C64C>T
BRCA-US102261583922615839single base substitutionCTmissense_variantR45C133C>T
BRCA-US102261583922615839single base substitutionCTupstream_gene_variant
BRCA-US102261654322616543single base substitutionGCdownstream_gene_variant
BRCA-US102261654322616543single base substitutionGCexon_variant
BRCA-US102261654322616543single base substitutionGCintron_variant
BRCA-US102261654322616543single base substitutionGCmissense_variantD77H229G>C
BRCA-US102261654322616543single base substitutionGCupstream_gene_variant
BRCA-US102261833622618336single base substitutionTGdownstream_gene_variant
BRCA-US102261833622618336single base substitutionTGexon_variant
BRCA-US102261833622618336single base substitutionTGsynonymous_variantP282P846T>G
BTCA-JP102260690322606903single base substitutionGCupstream_gene_variant
CESC-US102260698422606984single base substitutionCTupstream_gene_variant
CESC-US102260767522607675single base substitutionTGupstream_gene_variant
CESC-US102261689922616899single base substitutionGCdownstream_gene_variant
CESC-US102261689922616899single base substitutionGCexon_variant
CESC-US102261689922616899single base substitutionGCintron_variant
CESC-US102261689922616899single base substitutionGCmissense_variantD113H337G>C
CESC-US102261823222618232single base substitutionGAdownstream_gene_variant
CESC-US102261823222618232single base substitutionGAexon_variant
CESC-US102261823222618232single base substitutionGAmissense_variantE153K457G>A
CESC-US102261823222618232single base substitutionGAmissense_variantE248K742G>A
CESC-US102261833722618337single base substitutionCTdownstream_gene_variant
CESC-US102261833722618337single base substitutionCTexon_variant
CESC-US102261833722618337single base substitutionCTmissense_variantH283Y847C>T
CESC-US102261836022618360single base substitutionCTdownstream_gene_variant
CESC-US102261836022618360single base substitutionCTexon_variant
CESC-US102261836022618360single base substitutionCTsynonymous_variantS290S870C>T
CLLE-ES102262457922624579single base substitutionGAdownstream_gene_variant
COAD-US102260889722608897single base substitutionGAupstream_gene_variant
COCA-CN102260713822607138single base substitutionCAupstream_gene_variant
COCA-CN102260715722607157single base substitutionGTupstream_gene_variant
COCA-CN102260718222607182single base substitutionCAupstream_gene_variant
COCA-CN102260771622607716single base substitutionGAupstream_gene_variant
COCA-CN102260782222607822single base substitutionAGupstream_gene_variant
COCA-CN102260791422607914single base substitutionGTupstream_gene_variant
COCA-CN102260889822608898single base substitutionAGupstream_gene_variant
COCA-CN102260891322608913single base substitutionGTupstream_gene_variant
COCA-CN102261536622615366single base substitutionTG5_prime_UTR_premature_start_codon_gain_variant
COCA-CN102261536622615366single base substitutionTGexon_variant
COCA-CN102261536622615366single base substitutionTGupstream_gene_variant
COCA-CN102261557822615578single base substitutionCAexon_variant
COCA-CN102261557822615578single base substitutionCAintron_variant
COCA-CN102261557822615578single base substitutionCAupstream_gene_variant
COCA-CN102261683022616830single base substitutionTGdownstream_gene_variant
COCA-CN102261683022616830single base substitutionTGexon_variant
COCA-CN102261683022616830single base substitutionTGintron_variant
COCA-CN102261683022616830single base substitutionTGupstream_gene_variant
COCA-CN102261686122616861single base substitutionTGdownstream_gene_variant
COCA-CN102261686122616861single base substitutionTGexon_variant
COCA-CN102261686122616861single base substitutionTGintron_variant
COCA-CN102261686122616861single base substitutionTGupstream_gene_variant
COCA-CN102261748522617485single base substitutionTCdownstream_gene_variant
COCA-CN102261748522617485single base substitutionTCintron_variant
COCA-CN102261772922617729single base substitutionTGdownstream_gene_variant
COCA-CN102261772922617729single base substitutionTGintron_variant
COCA-CN102261825722618257single base substitutionAGdownstream_gene_variant
COCA-CN102261825722618257single base substitutionAGexon_variant
COCA-CN102261825722618257single base substitutionAGmissense_variantD161G482A>G
COCA-CN102261825722618257single base substitutionAGmissense_variantD256G767A>G
ESAD-UK102260582022605820single base substitutionTAupstream_gene_variant
ESAD-UK102260716022607160deletion of <=200bpG-upstream_gene_variant
ESAD-UK102260790122607901single base substitutionCAupstream_gene_variant
ESAD-UK102260936422609364single base substitutionGAupstream_gene_variant
ESAD-UK102261405522614055single base substitutionCTintron_variant
ESAD-UK102261405522614055single base substitutionCTupstream_gene_variant
ESAD-UK102261483022614830single base substitutionGCintron_variant
ESAD-UK102261483022614830single base substitutionGCupstream_gene_variant
ESAD-UK102261515522615158deletion of <=200bpAAGT-intron_variant
ESAD-UK102261515522615158deletion of <=200bpAAGT-upstream_gene_variant
ESAD-UK102261607922616079single base substitutionGAdownstream_gene_variant
ESAD-UK102261607922616079single base substitutionGAintron_variant
ESAD-UK102261607922616079single base substitutionGAupstream_gene_variant
ESAD-UK102261699922616999single base substitutionACdownstream_gene_variant
ESAD-UK102261699922616999single base substitutionACexon_variant
ESAD-UK102261699922616999single base substitutionACintron_variant
ESAD-UK102261934822619348single base substitutionAG3_prime_UTR_variant
ESAD-UK102261934822619348single base substitutionAGdownstream_gene_variant
ESAD-UK102261975022619750single base substitutionCA3_prime_UTR_variant
ESAD-UK102261975022619750single base substitutionCAdownstream_gene_variant
ESAD-UK102262003222620032single base substitutionGC3_prime_UTR_variant
ESAD-UK102262003222620032single base substitutionGCdownstream_gene_variant
ESAD-UK102262019922620199single base substitutionCG3_prime_UTR_variant
ESAD-UK102262019922620199single base substitutionCGdownstream_gene_variant
ESAD-UK102262252222622522single base substitutionGAdownstream_gene_variant
ESAD-UK102262346822623468single base substitutionGAdownstream_gene_variant
ESAD-UK102262353822623538single base substitutionACdownstream_gene_variant
ESAD-UK102262402322624023single base substitutionGCdownstream_gene_variant
ESAD-UK102262426922624269single base substitutionGAdownstream_gene_variant
ESAD-UK102262442822624428single base substitutionCTdownstream_gene_variant
ESAD-UK102262517222625172single base substitutionCTdownstream_gene_variant
ESCA-CN102261694422616944single base substitutionGAdownstream_gene_variant
ESCA-CN102261694422616944single base substitutionGAexon_variant
ESCA-CN102261694422616944single base substitutionGAintron_variant
ESCA-CN102261694422616944single base substitutionGAmissense_variantD128N382G>A
GBM-US102261548022615480single base substitutionTGexon_variant
GBM-US102261548022615480single base substitutionTGmissense_variantC11W33T>G
GBM-US102261548022615480single base substitutionTGmissense_variantC34W102T>G
GBM-US102261548022615480single base substitutionTGupstream_gene_variant
GBM-US102261586222615862single base substitutionTGdownstream_gene_variant
GBM-US102261586222615862single base substitutionTGexon_variant
GBM-US102261586222615862single base substitutionTGstop_gainedY29*87T>G
GBM-US102261586222615862single base substitutionTGstop_gainedY52*156T>G
GBM-US102261586222615862single base substitutionTGupstream_gene_variant
GBM-US102261760922617609single base substitutionCTdownstream_gene_variant
GBM-US102261760922617609single base substitutionCTexon_variant
GBM-US102261760922617609single base substitutionCTsynonymous_variantD184D552C>T
GBM-US102261760922617609single base substitutionCTsynonymous_variantD89D267C>T
KIRC-US102260536922605369single base substitutionAGupstream_gene_variant
KIRP-US102261824622618246single base substitutionCGdownstream_gene_variant
KIRP-US102261824622618246single base substitutionCGexon_variant
KIRP-US102261824622618246single base substitutionCGmissense_variantD157E471C>G
KIRP-US102261824622618246single base substitutionCGmissense_variantD252E756C>G
LGG-US102261823422618234single base substitutionAGdownstream_gene_variant
LGG-US102261823422618234single base substitutionAGexon_variant
LGG-US102261823422618234single base substitutionAGsynonymous_variantE153E459A>G
LGG-US102261823422618234single base substitutionAGsynonymous_variantE248E744A>G
LICA-FR102260725422607254single base substitutionGAupstream_gene_variant
LICA-FR102261249722612497single base substitutionGTintron_variant
LICA-FR102261249722612497single base substitutionGTupstream_gene_variant
LICA-FR102261347122613471single base substitutionTAintron_variant
LICA-FR102261347122613471single base substitutionTAupstream_gene_variant
LICA-FR102261799522617995single base substitutionGCdownstream_gene_variant
LICA-FR102261799522617995single base substitutionGCexon_variant
LICA-FR102261799522617995single base substitutionGCmissense_variantE102Q304G>C
LICA-FR102261799522617995single base substitutionGCmissense_variantE197Q589G>C
LICA-FR102261825122618251single base substitutionGAdownstream_gene_variant
LICA-FR102261825122618251single base substitutionGAexon_variant
LICA-FR102261825122618251single base substitutionGAmissense_variantG159E476G>A
LICA-FR102261825122618251single base substitutionGAmissense_variantG254E761G>A
LIHC-US102260685522606855single base substitutionAGupstream_gene_variant
LIHC-US102260686522606865insertion of <=200bp-Gupstream_gene_variant
LIHC-US102260775422607754single base substitutionTGupstream_gene_variant
LIHC-US102261802422618024single base substitutionAGdownstream_gene_variant
LIHC-US102261802422618024single base substitutionAGexon_variant
LIHC-US102261802422618024single base substitutionAGsynonymous_variantL111L333A>G
LIHC-US102261802422618024single base substitutionAGsynonymous_variantL206L618A>G
LIHC-US102261821222618212single base substitutionAGdownstream_gene_variant
LIHC-US102261821222618212single base substitutionAGexon_variant
LIHC-US102261821222618212single base substitutionAGmissense_variantD146G437A>G
LIHC-US102261821222618212single base substitutionAGmissense_variantD241G722A>G
LINC-JP102260716122607161deletion of <=200bpT-upstream_gene_variant
LINC-JP102260774722607747single base substitutionCAupstream_gene_variant
LINC-JP102261281022612810single base substitutionGAintron_variant
LINC-JP102261281022612810single base substitutionGAupstream_gene_variant
LINC-JP102261559122615591single base substitutionGAexon_variant
LINC-JP102261559122615591single base substitutionGAintron_variant
LINC-JP102261559122615591single base substitutionGAupstream_gene_variant
LINC-JP102261656322616563single base substitutionTAdownstream_gene_variant
LINC-JP102261656322616563single base substitutionTAexon_variant
LINC-JP102261656322616563single base substitutionTAintron_variant
LINC-JP102261656322616563single base substitutionTAsynonymous_variantV83V249T>A
LINC-JP102261656322616563single base substitutionTAupstream_gene_variant
LINC-JP102261750222617502single base substitutionATdownstream_gene_variant
LINC-JP102261750222617502single base substitutionATintron_variant
LIRI-JP102260695022606950single base substitutionTGupstream_gene_variant
LIRI-JP102260812622608126single base substitutionGAupstream_gene_variant
LIRI-JP102261188922611889single base substitutionCTintron_variant
LIRI-JP102261188922611889single base substitutionCTupstream_gene_variant
LIRI-JP102261245322612453single base substitutionGTintron_variant
LIRI-JP102261245322612453single base substitutionGTupstream_gene_variant
LIRI-JP102261341322613413single base substitutionAGintron_variant
LIRI-JP102261341322613413single base substitutionAGupstream_gene_variant
LIRI-JP102261409822614098single base substitutionAGintron_variant
LIRI-JP102261409822614098single base substitutionAGupstream_gene_variant
LIRI-JP102261472622614726single base substitutionGTintron_variant
LIRI-JP102261472622614726single base substitutionGTupstream_gene_variant
LIRI-JP102261663922616639single base substitutionGAdownstream_gene_variant
LIRI-JP102261663922616639single base substitutionGAexon_variant
LIRI-JP102261663922616639single base substitutionGAintron_variant
LIRI-JP102261663922616639single base substitutionGAupstream_gene_variant
LIRI-JP102261687622616876single base substitutionTCdownstream_gene_variant
LIRI-JP102261687622616876single base substitutionTCexon_variant
LIRI-JP102261687622616876single base substitutionTCintron_variant
LIRI-JP102261687622616876single base substitutionTCsplice_region_variant
LIRI-JP102261833422618334single base substitutionCTdownstream_gene_variant
LIRI-JP102261833422618334single base substitutionCTexon_variant
LIRI-JP102261833422618334single base substitutionCTmissense_variantP282S844C>T
LIRI-JP102262027622620276single base substitutionGA3_prime_UTR_variant
LIRI-JP102262027622620276single base substitutionGAdownstream_gene_variant
LIRI-JP102262526722625267single base substitutionAGdownstream_gene_variant
LIRI-JP102262532422625324single base substitutionGAdownstream_gene_variant
LUSC-KR102260606722606067single base substitutionGTupstream_gene_variant
LUSC-KR102261028822610288single base substitutionCG5_prime_UTR_variant
LUSC-KR102261028822610288single base substitutionCGupstream_gene_variant
LUSC-KR102261120722611207single base substitutionGCintron_variant
LUSC-KR102261120722611207single base substitutionGCupstream_gene_variant
LUSC-KR102261902322619023single base substitutionCT3_prime_UTR_variant
LUSC-KR102261902322619023single base substitutionCTdownstream_gene_variant
LUSC-KR102261923222619232single base substitutionGA3_prime_UTR_variant
LUSC-KR102261923222619232single base substitutionGAdownstream_gene_variant
LUSC-KR102262122622621226single base substitutionATdownstream_gene_variant
LUSC-KR102262195822621958single base substitutionAGdownstream_gene_variant
LUSC-KR102262427522624275single base substitutionCTdownstream_gene_variant
LUSC-KR102262514722625147single base substitutionGTdownstream_gene_variant
LUSC-KR102262523022625230single base substitutionCGdownstream_gene_variant
LUSC-US102261539322615393single base substitutionGTexon_variant
LUSC-US102261539322615393single base substitutionGTsynonymous_variantT5T15G>T
LUSC-US102261539322615393single base substitutionGTupstream_gene_variant
MALY-DE102260621122606211single base substitutionTCupstream_gene_variant
MALY-DE102261989322619893single base substitutionTC3_prime_UTR_variant
MALY-DE102261989322619893single base substitutionTCdownstream_gene_variant
MELA-AU102260583322605833single base substitutionGAupstream_gene_variant
MELA-AU102260632222606322single base substitutionCTupstream_gene_variant
MELA-AU102260869522608695single base substitutionCTupstream_gene_variant
MELA-AU102261033122610331single base substitutionGA5_prime_UTR_variant
MELA-AU102261033122610331single base substitutionGAupstream_gene_variant
MELA-AU102261121522611215single base substitutionCTintron_variant
MELA-AU102261121522611215single base substitutionCTupstream_gene_variant
MELA-AU102261126322611263single base substitutionGAintron_variant
MELA-AU102261126322611263single base substitutionGAupstream_gene_variant
MELA-AU102261220122612201single base substitutionGAintron_variant
MELA-AU102261220122612201single base substitutionGAupstream_gene_variant
MELA-AU102261260922612609single base substitutionTCintron_variant
MELA-AU102261260922612609single base substitutionTCupstream_gene_variant
MELA-AU102261297222612972single base substitutionGAintron_variant
MELA-AU102261297222612972single base substitutionGAupstream_gene_variant
MELA-AU102261386422613864single base substitutionCTintron_variant
MELA-AU102261386422613864single base substitutionCTupstream_gene_variant
MELA-AU102261448822614488single base substitutionCTintron_variant
MELA-AU102261448822614488single base substitutionCTupstream_gene_variant
MELA-AU102261583922615839single base substitutionCTdownstream_gene_variant
MELA-AU102261583922615839single base substitutionCTexon_variant
MELA-AU102261583922615839single base substitutionCTmissense_variantR22C64C>T
MELA-AU102261583922615839single base substitutionCTmissense_variantR45C133C>T
MELA-AU102261583922615839single base substitutionCTupstream_gene_variant
MELA-AU102261687122616871single base substitutionCTdownstream_gene_variant
MELA-AU102261687122616871single base substitutionCTexon_variant
MELA-AU102261687122616871single base substitutionCTintron_variant
MELA-AU102261687122616871single base substitutionCTsplice_region_variant
MELA-AU102261687122616871single base substitutionCTupstream_gene_variant
MELA-AU102261708722617087single base substitutionCTdownstream_gene_variant
MELA-AU102261708722617087single base substitutionCTexon_variant
MELA-AU102261708722617087single base substitutionCTsynonymous_variantD150D450C>T
MELA-AU102261708722617087single base substitutionCTsynonymous_variantD55D165C>T
MELA-AU102261722822617228single base substitutionAGdownstream_gene_variant
MELA-AU102261722822617228single base substitutionAGintron_variant
MELA-AU102261755722617557single base substitutionCTdownstream_gene_variant
MELA-AU102261755722617557single base substitutionCTexon_variant
MELA-AU102261755722617557single base substitutionCTmissense_variantP167L500C>T
MELA-AU102261755722617557single base substitutionCTmissense_variantP72L215C>T
MELA-AU102261812622618126single base substitutionCTdownstream_gene_variant
MELA-AU102261812622618126single base substitutionCTintron_variant
MELA-AU102261817222618172single base substitutionCTdownstream_gene_variant
MELA-AU102261817222618172single base substitutionCTexon_variant
MELA-AU102261817222618172single base substitutionCTstop_gainedR133*397C>T
MELA-AU102261817222618172single base substitutionCTstop_gainedR228*682C>T
MELA-AU102261884022618840single base substitutionCT3_prime_UTR_variant
MELA-AU102261884022618840single base substitutionCTdownstream_gene_variant
MELA-AU102261903222619032single base substitutionGA3_prime_UTR_variant
MELA-AU102261903222619032single base substitutionGAdownstream_gene_variant
MELA-AU102261938622619386single base substitutionAG3_prime_UTR_variant
MELA-AU102261938622619386single base substitutionAGdownstream_gene_variant
MELA-AU102261943022619430single base substitutionTC3_prime_UTR_variant
MELA-AU102261943022619430single base substitutionTCdownstream_gene_variant
MELA-AU102261949622619496single base substitutionCT3_prime_UTR_variant
MELA-AU102261949622619496single base substitutionCTdownstream_gene_variant
MELA-AU102261973822619738single base substitutionTA3_prime_UTR_variant
MELA-AU102261973822619738single base substitutionTAdownstream_gene_variant
MELA-AU102262028422620284single base substitutionGA3_prime_UTR_variant
MELA-AU102262028422620284single base substitutionGAdownstream_gene_variant
MELA-AU102262134322621343single base substitutionGAdownstream_gene_variant
MELA-AU102262135022621350single base substitutionCTdownstream_gene_variant
MELA-AU102262171922621719single base substitutionCTdownstream_gene_variant
MELA-AU102262274122622741single base substitutionCTdownstream_gene_variant
MELA-AU102262339222623392single base substitutionCTdownstream_gene_variant
MELA-AU102262381222623812single base substitutionCTdownstream_gene_variant
MELA-AU102262398822623989multiple base substitution (>=2bp and <=200bp)CCTTdownstream_gene_variant
MELA-AU102262426522624265single base substitutionAGdownstream_gene_variant
MELA-AU102262500322625003single base substitutionCTdownstream_gene_variant
MELA-AU102262515222625152single base substitutionGAdownstream_gene_variant
MELA-AU102262525722625257single base substitutionCTdownstream_gene_variant
ORCA-IN102262279322622793single base substitutionCTdownstream_gene_variant
ORCA-IN102262305322623053single base substitutionGAdownstream_gene_variant
OV-AU102261028222610282single base substitutionCG5_prime_UTR_variant
OV-AU102261028222610282single base substitutionCGupstream_gene_variant
OV-AU102261034222610342single base substitutionCG5_prime_UTR_variant
OV-AU102261034222610342single base substitutionCGupstream_gene_variant
OV-AU102262292222622922single base substitutionGAdownstream_gene_variant
OV-AU102262294422622944single base substitutionCTdownstream_gene_variant
PACA-AU102261161022611610single base substitutionCTintron_variant
PACA-AU102261161022611610single base substitutionCTupstream_gene_variant
PACA-AU102261265522612655single base substitutionACintron_variant
PACA-AU102261265522612655single base substitutionACupstream_gene_variant
PACA-AU102261550222615502single base substitutionGAexon_variant
PACA-AU102261550222615502single base substitutionGAintron_variant
PACA-AU102261550222615502single base substitutionGAupstream_gene_variant
PACA-AU102261692322616923single base substitutionGAdownstream_gene_variant
PACA-AU102261692322616923single base substitutionGAexon_variant
PACA-AU102261692322616923single base substitutionGAintron_variant
PACA-AU102261692322616923single base substitutionGAmissense_variantD121N361G>A
PACA-AU102261834822618348single base substitutionTCdownstream_gene_variant
PACA-AU102261834822618348single base substitutionTCexon_variant
PACA-AU102261834822618348single base substitutionTCsynonymous_variantF286F858T>C
PACA-AU102262208822622088single base substitutionGTdownstream_gene_variant
PACA-AU102262368622623686single base substitutionCAdownstream_gene_variant
PACA-AU102262408622624086single base substitutionGAdownstream_gene_variant
PACA-CA102260652022606520single base substitutionTCupstream_gene_variant
PACA-CA102260683422606834single base substitutionTCupstream_gene_variant
PACA-CA102260745122607451single base substitutionACupstream_gene_variant
PACA-CA102260920922609209single base substitutionAGupstream_gene_variant
PACA-CA102261124022611240insertion of <=200bp-Gintron_variant
PACA-CA102261124022611240insertion of <=200bp-Gupstream_gene_variant
PACA-CA102261185622611856single base substitutionTGintron_variant
PACA-CA102261185622611856single base substitutionTGupstream_gene_variant
PACA-CA102261316022613160single base substitutionCTintron_variant
PACA-CA102261316022613160single base substitutionCTupstream_gene_variant
PACA-CA102261552422615524single base substitutionTCexon_variant
PACA-CA102261552422615524single base substitutionTCintron_variant
PACA-CA102261552422615524single base substitutionTCupstream_gene_variant
PACA-CA102261684322616843single base substitutionGTdownstream_gene_variant
PACA-CA102261684322616843single base substitutionGTexon_variant
PACA-CA102261684322616843single base substitutionGTintron_variant
PACA-CA102261684322616843single base substitutionGTupstream_gene_variant
PACA-CA102261728922617289insertion of <=200bp-Adownstream_gene_variant
PACA-CA102261728922617289insertion of <=200bp-Aintron_variant
PACA-CA102261850622618506single base substitutionCG3_prime_UTR_variant
PACA-CA102261850622618506single base substitutionCGdownstream_gene_variant
PACA-CA102261961022619610single base substitutionAG3_prime_UTR_variant
PACA-CA102261961022619610single base substitutionAGdownstream_gene_variant
PACA-CA102262063522620635single base substitutionAGdownstream_gene_variant
PACA-CA102262253322622533single base substitutionAGdownstream_gene_variant
PAEN-AU102260519722605197single base substitutionGAupstream_gene_variant
PAEN-IT102260881322608813single base substitutionACupstream_gene_variant
PBCA-DE102260582622605826single base substitutionGAupstream_gene_variant
PBCA-DE102260662222606624deletion of <=200bpTTG-upstream_gene_variant
PBCA-DE102262458522624585single base substitutionGAdownstream_gene_variant
PRAD-CA102261247622612476single base substitutionCTintron_variant
PRAD-CA102261247622612476single base substitutionCTupstream_gene_variant
PRAD-UK102261038222610399deletion of <=200bpGGAGGAGGCCGAGGCGCC-5_prime_UTR_variant
PRAD-UK102261038222610399deletion of <=200bpGGAGGAGGCCGAGGCGCC-upstream_gene_variant
PRAD-UK102262331622623316single base substitutionGTdownstream_gene_variant
READ-US102261707022617070single base substitutionCTdownstream_gene_variant
READ-US102261707022617070single base substitutionCTexon_variant
READ-US102261707022617070single base substitutionCTmissense_variantR145W433C>T
READ-US102261707022617070single base substitutionCTmissense_variantR50W148C>T
RECA-EU102260755222607552single base substitutionTCupstream_gene_variant
RECA-EU102261927122619271single base substitutionAT3_prime_UTR_variant
RECA-EU102261927122619271single base substitutionATdownstream_gene_variant
RECA-EU102262248622622486single base substitutionCAdownstream_gene_variant
SKCA-BR102260522822605228single base substitutionAGupstream_gene_variant
SKCA-BR102260526622605266single base substitutionCAupstream_gene_variant
SKCA-BR102260539822605398single base substitutionCGupstream_gene_variant
SKCA-BR102260946622609466single base substitutionACupstream_gene_variant
SKCA-BR102261455822614558single base substitutionGCintron_variant
SKCA-BR102261455822614558single base substitutionGCupstream_gene_variant
SKCA-BR102262352022623520single base substitutionAGdownstream_gene_variant
SKCM-US102260790522607905single base substitutionCTupstream_gene_variant
SKCM-US102261583922615839single base substitutionCTdownstream_gene_variant
SKCM-US102261583922615839single base substitutionCTexon_variant
SKCM-US102261583922615839single base substitutionCTmissense_variantR22C64C>T
SKCM-US102261583922615839single base substitutionCTmissense_variantR45C133C>T
SKCM-US102261583922615839single base substitutionCTupstream_gene_variant
SKCM-US102261696822616968single base substitutionGAdownstream_gene_variant
SKCM-US102261696822616968single base substitutionGAexon_variant
SKCM-US102261696822616968single base substitutionGAintron_variant
SKCM-US102261696822616968single base substitutionGAmissense_variantE136K406G>A
SKCM-US102261707022617070single base substitutionCTdownstream_gene_variant
SKCM-US102261707022617070single base substitutionCTexon_variant
SKCM-US102261707022617070single base substitutionCTmissense_variantR145W433C>T
SKCM-US102261707022617070single base substitutionCTmissense_variantR50W148C>T
SKCM-US102261817622618176single base substitutionCTdownstream_gene_variant
SKCM-US102261817622618176single base substitutionCTexon_variant
SKCM-US102261817622618176single base substitutionCTmissense_variantP134L401C>T
SKCM-US102261817622618176single base substitutionCTmissense_variantP229L686C>T
SKCM-US102261832222618322single base substitutionCTdownstream_gene_variant
SKCM-US102261832222618322single base substitutionCTexon_variant
SKCM-US102261832222618322single base substitutionCTmissense_variantP183S547C>T
SKCM-US102261832222618322single base substitutionCTmissense_variantP278S832C>T
STAD-US102261697722616977single base substitutionGAdownstream_gene_variant
STAD-US102261697722616977single base substitutionGAexon_variant
STAD-US102261697722616977single base substitutionGAintron_variant
STAD-US102261697722616977single base substitutionGAmissense_variantD139N415G>A
STAD-US102261762522617625single base substitutionCGdownstream_gene_variant
STAD-US102261762522617625single base substitutionCGmissense_variantQ190E568C>G
STAD-US102261762522617625single base substitutionCGmissense_variantQ95E283C>G
STAD-US102261762522617625single base substitutionCGsplice_region_variant
STAD-US102261805522618055single base substitutionATdownstream_gene_variant
STAD-US102261805522618055single base substitutionATmissense_variantR122W364A>T
STAD-US102261805522618055single base substitutionATmissense_variantR217W649A>T
STAD-US102261805522618055single base substitutionATsplice_region_variant
STAD-US102261826322618263single base substitutionCTdownstream_gene_variant
STAD-US102261826322618263single base substitutionCTexon_variant
STAD-US102261826322618263single base substitutionCTmissense_variantA163V488C>T
STAD-US102261826322618263single base substitutionCTmissense_variantA258V773C>T
THCA-SA102260539822605398single base substitutionCGupstream_gene_variant
THCA-SA102261866722618667single base substitutionGT3_prime_UTR_variant
THCA-SA102261866722618667single base substitutionGTdownstream_gene_variant
UCEC-US102260683522606835single base substitutionCTupstream_gene_variant
UCEC-US102260791722607917single base substitutionTGupstream_gene_variant
UCEC-US102261548922615489single base substitutionCAexon_variant
UCEC-US102261548922615489single base substitutionCAsplice_region_variant
UCEC-US102261548922615489single base substitutionCAupstream_gene_variant
UCEC-US102261825622618256single base substitutionGAdownstream_gene_variant
UCEC-US102261825622618256single base substitutionGAexon_variant
UCEC-US102261825622618256single base substitutionGAmissense_variantD161N481G>A
UCEC-US102261825622618256single base substitutionGAmissense_variantD256N766G>A
UCEC-US102261832722618327single base substitutionGAdownstream_gene_variant
UCEC-US102261832722618327single base substitutionGAexon_variant
UCEC-US102261832722618327single base substitutionGAsynonymous_variantV184V552G>A
UCEC-US102261832722618327single base substitutionGAsynonymous_variantV279V837G>A
UCEC-US102261842822618428single base substitutionGAdownstream_gene_variant
UCEC-US102261842822618428single base substitutionGAmissense_variantR313Q938G>A
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
BN24COSM1603318c.249T>Ap.V83VSubstitution - coding silent10:22327634-22327634+
CHC2127TCOSM4952833c.589G>Cp.E197QSubstitution - Missense10:22329066-22329066+
pfg166TCOSM4751165c.781C>Tp.P261SSubstitution - Missense10:22329342-22329342+
TCGA-EE-A2A0-06COSM3436549c.832C>Tp.P278SSubstitution - Missense10:22329393-22329393+
TCGA-DR-A0ZM-01COSM458855c.742G>Ap.E248KSubstitution - Missense10:22329303-22329303+
HT115COSM2133118c.683G>Ap.R228QSubstitution - Missense10:22329244-22329244+
T578COSM4674144c.411C>Ap.F137LSubstitution - Missense10:22328044-22328044+
PD23554aCOSM5798393c.268G>Ap.E90KSubstitution - Missense10:22327744-22327744+
T3417COSM4674145c.927C>Ap.A309ASubstitution - coding silent10:22329488-22329488+
TCGA-AA-3715-01COSM268754c.98A>Tp.E33VSubstitution - Missense10:22326547-22326547+
587278COSM1184753c.821G>Ap.S274NSubstitution - Missense10:22329382-22329382+
8665_CLMCOSM5753450c.930T>Gp.N310KSubstitution - Missense10:22329491-22329491+
TCGA-EE-A29C-06COSM3436547c.133C>Tp.R45CSubstitution - Missense10:22326910-22326910+
TCGA-BR-8361-01COSM4013336c.649A>Tp.R217WSubstitution - Missense10:22329126-22329126+
587284COSM1184754c.418C>Ap.Q140KSubstitution - Missense10:22328051-22328051+
H322TCOSM1195035c.766G>Tp.D256YSubstitution - Missense10:22329327-22329327+
TCGA-IR-A3LI-01COSM4846250c.847C>Tp.H283YSubstitution - Missense10:22329408-22329408+
TCGA-BR-4201-01COSM4013337c.773C>Tp.A258VSubstitution - Missense10:22329334-22329334+
ESCC_55COSM5631683c.862C>Tp.H288YSubstitution - Missense10:22329423-22329423+
LC_S15COSM1187905c.43C>Tp.H15YSubstitution - Missense10:22326492-22326492+
Pat_40_ACOSM5836671c.682C>Tp.R228*Substitution - Nonsense10:22329243-22329243+
BRC31COSM4013334c.415G>Ap.D139NSubstitution - Missense10:22328048-22328048+
8050939COSM3769092c.858T>Cp.F286FSubstitution - coding silent10:22329419-22329419+
PT34COSM5910677c.304C>Tp.P102SSubstitution - Missense10:22327780-22327780+
TCGA-BR-4191-01COSM4013335c.568C>Gp.Q190ESubstitution - Missense10:22328696-22328696+
TCGA-06-2565-01COSM2152987c.552C>Tp.D184DSubstitution - coding silent10:22328680-22328680+
GHE0988COSM5713512c.451_452delAAp.K151fs*4Deletion - Frameshift10:22328159-22328160+
BN24TCOSM1603318c.249T>Ap.V83VSubstitution - coding silent10:22327634-22327634+
TCGA-A2-A0YK-01COSM427389c.229G>Cp.D77HSubstitution - Missense10:22327614-22327614+
ESCC_136COSM5642975c.586G>Tp.E196*Substitution - Nonsense10:22329063-22329063+
96TCOSM108646c.944C>Tp.S315LSubstitution - Missense10:22329505-22329505+
HCC2998COSM458855c.742G>Ap.E248KSubstitution - Missense10:22329303-22329303+
254COSM3731605c.574G>Cp.D192HSubstitution - Missense10:22329051-22329051+
P146COSM1737163c.571-1G>Ap.?Unknown10:22329047-22329047+
Pat_40_BCOSM5836671c.682C>Tp.R228*Substitution - Nonsense10:22329243-22329243+
HCC2998COSM458855c.742G>Ap.E248KSubstitution - Missense10:22329303-22329303+
TCGA-B5-A11E-01COSM917040c.837G>Ap.V279VSubstitution - coding silent10:22329398-22329398+
587376COSM1184755c.187A>Gp.T63ASubstitution - Missense10:22326964-22326964+
TCGA-AA-3866-01COSM296072c.221C>Gp.T74SSubstitution - Missense10:22327606-22327606+
TCGA-FU-A3HY-01COSM4838639c.337G>Cp.D113HSubstitution - Missense10:22327970-22327970+
TCGA-85-6561-01COSM683635c.15G>Tp.T5TSubstitution - coding silent10:22326464-22326464+
5853_PTCOSM5753450c.930T>Gp.N310KSubstitution - Missense10:22329491-22329491+
RK117_C01COSM3699883c.317-3T>Cp.?Unknown10:22327947-22327947+
TCGA-B5-A11E-01COSM917038c.111C>Ap.S37SSubstitution - coding silent10:22326560-22326560+
TCGA-DD-A3A0-01COSM4934766c.722A>Gp.D241GSubstitution - Missense10:22329283-22329283+
12-P412COSM4573546c.186G>Tp.K62NSubstitution - Missense10:22326963-22326963+
NCI-H322MCOSM1195035c.766G>Tp.D256YSubstitution - Missense10:22329327-22329327+
TCGA-E2-A1LA-01COSM1474555c.846T>Gp.P282PSubstitution - coding silent10:22329407-22329407+
TCGA-AN-A046-01COSM3436547c.133C>Tp.R45CSubstitution - Missense10:22326910-22326910+
RK006_C1COSM1627436c.844C>Tp.P282SSubstitution - Missense10:22329405-22329405+
ZZUFHECRKL-G012TCOSM5435273c.382G>Ap.D128NSubstitution - Missense10:22328015-22328015+
ESCC_160COSM5647241c.167G>Cp.C56SSubstitution - Missense10:22326944-22326944+
TCGA-EB-A44O-01COSM3436548c.686C>Tp.P229LSubstitution - Missense10:22329247-22329247+
RK006_C01COSM1627436c.844C>Tp.P282SSubstitution - Missense10:22329405-22329405+
CHC892TCOSM4959727c.761G>Ap.G254ESubstitution - Missense10:22329322-22329322+
Case1COSM1579153c.971C>Ap.S324YSubstitution - Missense10:22329532-22329532+
TCGA-BC-A10U-01COSM4942436c.618A>Gp.L206LSubstitution - coding silent10:22329095-22329095+
5853_CLMCOSM5753450c.930T>Gp.N310KSubstitution - Missense10:22329491-22329491+
RKOCOSM2133116c.596C>Ap.P199HSubstitution - Missense10:22329073-22329073+
TCGA-GF-A6C9-06COSM3414907c.433C>Tp.R145WSubstitution - Missense10:22328141-22328141+
CHC892TCOSM4959727c.761G>Ap.G254ESubstitution - Missense10:22329322-22329322+
TCGA-28-5211-01COSM3397044c.102T>Gp.C34WSubstitution - Missense10:22326551-22326551+
TCGA-BR-7717-01COSM4013334c.415G>Ap.D139NSubstitution - Missense10:22328048-22328048+
TCGA-06-0166-01COSM3397045c.156T>Gp.Y52*Substitution - Nonsense10:22326933-22326933+
DN14066COSM5962906c.839A>Cp.Q280PSubstitution - Missense10:22329400-22329400+
CHC2127TCOSM4952833c.589G>Cp.E197QSubstitution - Missense10:22329066-22329066+
TCGA-D1-A101-01COSM917039c.766G>Ap.D256NSubstitution - Missense10:22329327-22329327+
TCGA-FW-A3R5-06COSM3866992c.406G>Ap.E136KSubstitution - Missense10:22328039-22328039+
TCGA-06-2565COSM2152987c.552C>Tp.D184DSubstitution - coding silent10:22328680-22328680+
ESO-0013COSM1246137c.674A>Gp.Y225CSubstitution - Missense10:22329235-22329235+
TCGA-IA-A40Y-01COSM3985556c.756C>Gp.D252ESubstitution - Missense10:22329317-22329317+
TCGA-24-1567-01COSM77340c.86C>Ap.T29KSubstitution - Missense10:22326535-22326535+
TCGA-BT-A20R-01COSM1297171c.212C>Gp.S71*Substitution - Nonsense10:22327597-22327597+
HT115COSM2133114c.429G>Tp.L143FSubstitution - Missense10:22328137-22328137+
LUAD-B02216COSM335302c.554T>Cp.I185TSubstitution - Missense10:22328682-22328682+
cSCCP6COSM136774c.782C>Tp.P261LSubstitution - Missense10:22329343-22329343+
326_CLMCOSM5753450c.930T>Gp.N310KSubstitution - Missense10:22329491-22329491+
T3080COSM4674146c.935C>Ap.P312HSubstitution - Missense10:22329496-22329496+
TCGA-B5-A0JY-01COSM917041c.938G>Ap.R313QSubstitution - Missense10:22329499-22329499+
TCGA-FG-A4MY-01COSM3966997c.744A>Gp.E248ESubstitution - coding silent10:22329305-22329305+
I2L-P10-Tumor-OrganoidCOSM4674144c.411C>Ap.F137LSubstitution - Missense10:22328044-22328044+
TCGA-F5-6814-01COSM3414907c.433C>Tp.R145WSubstitution - Missense10:22328141-22328141+
Pat_53_BCOSM5836670c.7C>Tp.R3*Substitution - Nonsense10:22326456-22326456+
TCGA-BT-A20Q-01COSM415071c.329C>Gp.S110CSubstitution - Missense10:22327962-22327962+
8058339COSM3382811c.361G>Ap.D121NSubstitution - Missense10:22327994-22327994+
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.380390;Hs.38040310p11.231648311509020|dbSNP|BC011652|A/G|non-coding||1652|Validated;
1509044|dbSNP|BC011652|C/T|non-coding||2222|Validated
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
AGIntronicSNV.c.651+40A>G1022618097NSCLC
AGMissensep.Y225Cc.674A>G1022618164ESCA
CAMissensep.P282Tc.844C>A1022618334HNSC
CAMissensep.T29Kc.86C>A1022615464OV
CANonsensep.Y211*c.633C>A1022618039CM
CGMissensep.Q190Ec.568C>G1022617625STAD
CGMissensep.S110Cc.329C>G1022616891BLCA
CGMissensep.T74Sc.221C>G1022616535COREAD
CGNonsensep.S71*c.212C>G1022616526BLCA
CT3-UTRSNV.c.978+100C>T1022618568CM
CTMissensep.A258Vc.773C>T1022618263STAD
CTMissensep.P278Sc.832C>T1022618322CM
CTMissensep.P282Sc.844C>T1022618334HC
CTMissensep.R45Cc.133C>T1022615839CM
CTMissensep.S315Lc.944C>T1022618434CM
CTMissensep.S321Lc.962C>T1022618452HNSC
CTSynonymousp.D184Dc.552C>T1022617609GBM
GAMissensep.D139Nc.415G>A1022616977BRCA
GAMissensep.D256Nc.766G>A1022618256UCEC
GAMissensep.G115Rc.343G>A1022616905CM
GCMissensep.D77Hc.229G>C1022616543BRCA
GTSynonymousp.T5Tc.15G>T1022615393LUSC
TAIntronicSNV.c.425+23T>A1022617010CM
TGMissensep.C34Wc.102T>G1022615480GBM
TGNonsensep.Y52*c.156T>G1022615862GBM
TGSynonymousp.P282Pc.846T>G1022618336BRCA