BTBD1
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
BLCA158369906383699063+Missense_MutationSNPTTATCGA-E7-A541-01A-11D-A26M-08TCGA-E7-A541-10A-01D-A26K-08g.chr15:83699063T>Ac.880A>Tc.(880-882)Att>Tttp.I294F
BLCA158371067083710670+SilentSNPGGCTCGA-DK-A2I6-01A-12D-A18F-08TCGA-DK-A2I6-10A-01D-A18F-08g.chr15:83710670G>Cc.672C>Gc.(670-672)ctC>ctGp.L224L
BLCA158373583683735836+Missense_MutationSNPGGATCGA-GV-A3QH-01A-11D-A21Z-08TCGA-GV-A3QH-10A-01D-A21Z-08g.chr15:83735836G>Ac.68C>Tc.(67-69)gCg>gTgp.A23V
BLCA158373585583735855+Missense_MutationSNPCCTTCGA-K4-A6MB-01A-11D-A31L-08TCGA-K4-A6MB-10A-01D-A31J-08g.chr15:83735855C>Tc.49G>Ac.(49-51)Gag>Aagp.E17K
BRCA158368684883686848+Missense_MutationSNPGGTTCGA-E9-A1NA-01A-11D-A142-09TCGA-E9-A1NA-10A-01D-A142-09g.chr15:83686848G>Tc.1420C>Ac.(1420-1422)Caa>Aaap.Q474K
BRCA158368755483687554+Missense_MutationSNPTTGTCGA-A8-A07L-01A-11W-A019-09TCGA-A8-A07L-10A-01W-A021-09g.chr15:83687554T>Gc.1195A>Cc.(1195-1197)Agt>Cgtp.S399R
BRCA158371059383710594+Missense_MutationDNPGCGCATTCGA-AO-A125-01A-11D-A10M-09TCGA-AO-A125-10A-01D-A10M-09g.chr15:83710593_83710594GC>ATc.748_749GC>ATc.(748-750)GCa>ATap.A250I
BRCA158371063183710631+Missense_MutationSNPTTGTCGA-AN-A046-01A-21W-A050-09TCGA-AN-A046-10A-01W-A055-09g.chr15:83710631T>Gc.711A>Cc.(709-711)gaA>gaCp.E237D
BRCA158371063483710634+SilentSNPTTGTCGA-A8-A08P-01A-11W-A019-09TCGA-A8-A08P-10A-01W-A021-09g.chr15:83710634T>Gc.708A>Cc.(706-708)cgA>cgCp.R236R
CESC158371883483718834+Missense_MutationSNPTTCTCGA-DS-A3LQ-01A-21D-A21Q-09TCGA-DS-A3LQ-10A-01D-A21Q-09g.chr15:83718834T>Cc.655A>Gc.(655-657)Att>Gttp.I219V
CESC158373572783735727+SilentSNPGGATCGA-C5-A7UH-01A-11D-A351-09TCGA-C5-A7UH-10A-01D-A351-09g.chr15:83735727G>Ac.177C>Tc.(175-177)ttC>ttTp.F59F
COAD158368748183687481+Missense_MutationSNPTTCTCGA-AZ-4315-01A-01D-1408-10TCGA-AZ-4315-10A-01D-1408-10g.chr15:83687481T>Cc.1268A>Gc.(1267-1269)tAc>tGcp.Y423C
COAD158368758683687586+Frame_Shift_DelDELTT-TCGA-CM-4743-01A-01D-1719-10TCGA-CM-4743-10A-01D-1719-10g.chr15:83687586delTc.1163delAc.(1162-1164)aagfsp.K388fs
COAD158369889483698894+Missense_MutationSNPCCTTCGA-AA-A00N-01A-02W-A00E-09TCGA-AA-A00N-10A-01W-A00E-09g.chr15:83698894C>Tc.1049G>Ac.(1048-1050)cGa>cAap.R350Q
COAD158369896583698965+Missense_MutationSNPCCATCGA-AA-3655-01A-02D-1719-10TCGA-AA-3655-11A-01D-1719-10g.chr15:83698965C>Ac.978G>Tc.(976-978)agG>agTp.R326S
COAD158369896583698965+Missense_MutationSNPCCATCGA-AZ-6600-01A-11D-1771-10TCGA-AZ-6600-11A-01D-1771-10g.chr15:83698965C>Ac.978G>Tc.(976-978)agG>agTp.R326S
COAD158369896783698967+Missense_MutationSNPTTATCGA-D5-6536-01A-11D-1719-10TCGA-D5-6536-10A-01D-1719-10g.chr15:83698967T>Ac.976A>Tc.(976-978)Agg>Tggp.R326W
COAD158371048283710482+Missense_MutationSNPGGATCGA-AA-A01P-01A-21W-A096-10TCGA-AA-A01P-11A-11W-A096-10g.chr15:83710482G>Ac.860C>Tc.(859-861)gCa>gTap.A287V
COAD158371063983710639+Missense_MutationSNPTTATCGA-AA-3522-01A-01W-0831-10TCGA-AA-3522-10A-01W-0831-10g.chr15:83710639T>Ac.703A>Tc.(703-705)Att>Tttp.I235F
COAD158372517783725177+SilentSNPAAGTCGA-DM-A28H-01A-11D-A16V-10TCGA-DM-A28H-10A-01D-A16V-10g.chr15:83725177A>Gc.522T>Cc.(520-522)caT>caCp.H174H
COAD158372517883725178+Missense_MutationSNPTTCTCGA-A6-5666-01A-01D-1650-10TCGA-A6-5666-10A-01D-1650-10g.chr15:83725178T>Cc.521A>Gc.(520-522)cAt>cGtp.H174R
COADREAD158368748183687481+Missense_MutationSNPTTCTCGA-AZ-4315-01A-01D-1408-10TCGA-AZ-4315-10A-01D-1408-10g.chr15:83687481T>Cc.1268A>Gc.(1267-1269)tAc>tGcp.Y423C
COADREAD158368758683687586+Frame_Shift_DelDELTT-TCGA-CM-4743-01A-01D-1719-10TCGA-CM-4743-10A-01D-1719-10g.chr15:83687586delTc.1163delAc.(1162-1164)aagfsp.K388fs
COADREAD158369889483698894+Missense_MutationSNPCCTTCGA-AA-A00N-01A-02W-A00E-09TCGA-AA-A00N-10A-01W-A00E-09g.chr15:83698894C>Tc.1049G>Ac.(1048-1050)cGa>cAap.R350Q
COADREAD158369896583698965+Missense_MutationSNPCCATCGA-AA-3655-01A-02D-1719-10TCGA-AA-3655-11A-01D-1719-10g.chr15:83698965C>Ac.978G>Tc.(976-978)agG>agTp.R326S
COADREAD158369896583698965+Missense_MutationSNPCCATCGA-AZ-6600-01A-11D-1771-10TCGA-AZ-6600-11A-01D-1771-10g.chr15:83698965C>Ac.978G>Tc.(976-978)agG>agTp.R326S
COADREAD158369896783698967+Missense_MutationSNPTTATCGA-D5-6536-01A-11D-1719-10TCGA-D5-6536-10A-01D-1719-10g.chr15:83698967T>Ac.976A>Tc.(976-978)Agg>Tggp.R326W
COADREAD158371048283710482+Missense_MutationSNPGGATCGA-AA-A01P-01A-21W-A096-10TCGA-AA-A01P-11A-11W-A096-10g.chr15:83710482G>Ac.860C>Tc.(859-861)gCa>gTap.A287V
COADREAD158371051083710510+Missense_MutationSNPGGATCGA-AG-A02N-01A-11W-A096-10TCGA-AG-A02N-11A-11W-A096-10g.chr15:83710510G>Ac.832C>Tc.(832-834)Cca>Tcap.P278S
COADREAD158371063983710639+Missense_MutationSNPTTATCGA-AA-3522-01A-01W-0831-10TCGA-AA-3522-10A-01W-0831-10g.chr15:83710639T>Ac.703A>Tc.(703-705)Att>Tttp.I235F
COADREAD158371882783718827+Missense_MutationSNPAAGTCGA-EI-6510-01A-11D-1733-10TCGA-EI-6510-10A-01D-1733-10g.chr15:83718827A>Gc.662T>Cc.(661-663)aTa>aCap.I221T
COADREAD158372517783725177+SilentSNPAAGTCGA-DM-A28H-01A-11D-A16V-10TCGA-DM-A28H-10A-01D-A16V-10g.chr15:83725177A>Gc.522T>Cc.(520-522)caT>caCp.H174H
COADREAD158372517883725178+Missense_MutationSNPTTCTCGA-A6-5666-01A-01D-1650-10TCGA-A6-5666-10A-01D-1650-10g.chr15:83725178T>Cc.521A>Gc.(520-522)cAt>cGtp.H174R
DLBC158372529183725291+SilentSNPTTATCGA-G8-6324-01A-11D-2210-10TCGA-G8-6324-10A-01D-2210-10g.chr15:83725291T>Ac.408A>Tc.(406-408)ctA>ctTp.L136L
ESCA158368754983687549+Nonsense_MutationSNPAATTCGA-2H-A9GR-01A-12D-A37C-09TCGA-2H-A9GR-11A-11D-A37F-09g.chr15:83687549A>Tc.1200T>Ac.(1198-1200)tgT>tgAp.C400*
ESCA158369902283699022+SilentSNPAAGTCGA-L5-A8NM-01A-11D-A37C-09TCGA-L5-A8NM-11A-12D-A37F-09g.chr15:83699022A>Gc.921T>Cc.(919-921)ttT>ttCp.F307F
GBM158372517983725179+Missense_MutationSNPGGATCGA-74-6578-01A-11D-1845-08TCGA-74-6578-10A-01D-1845-08g.chr15:83725179G>Ac.520C>Tc.(520-522)Cat>Tatp.H174Y
GBMLGG158368745483687457+Splice_SiteDELCTTACTTA-TCGA-HT-7608-01A-11D-2086-08TCGA-HT-7608-10A-01D-2086-08g.chr15:83687454_83687457delCTTAc.e7+1
GBMLGG158371889483718895+Frame_Shift_DelDELAAAA-TCGA-HW-7490-01A-11D-2024-08TCGA-HW-7490-10A-01D-2024-08g.chr15:83718894_83718895delAAc.594_595delTTc.(592-597)ctttgtfsp.C199fs
GBMLGG158372517683725176+Missense_MutationSNPGGTTCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr15:83725176G>Tc.523C>Ac.(523-525)Ctt>Attp.L175I
GBMLGG158372517983725179+Missense_MutationSNPGGATCGA-74-6578-01A-11D-1845-08TCGA-74-6578-10A-01D-1845-08g.chr15:83725179G>Ac.520C>Tc.(520-522)Cat>Tatp.H174Y
HNSC158368752883687528+SilentSNPGGATCGA-CV-6961-01A-21D-1912-08TCGA-CV-6961-10A-01D-1912-08g.chr15:83687528G>Ac.1221C>Tc.(1219-1221)ttC>ttTp.F407F
HNSC158369889583698895+Nonsense_MutationSNPGGATCGA-CN-5369-01A-01D-1434-08TCGA-CN-5369-10A-01D-1434-08g.chr15:83698895G>Ac.1048C>Tc.(1048-1050)Cga>Tgap.R350*
HNSC158371062883710628+SilentSNPAAGTCGA-CV-7421-01A-11D-2078-08TCGA-CV-7421-10A-01D-2078-08g.chr15:83710628A>Gc.714T>Cc.(712-714)agT>agCp.S238S
HNSC158371883383718833+Missense_MutationSNPAATTCGA-CN-6020-01A-11D-1683-08TCGA-CN-6020-10A-01D-1683-08g.chr15:83718833A>Tc.656T>Ac.(655-657)aTt>aAtp.I219N
LGG158368745483687457+Splice_SiteDELCTTACTTA-TCGA-HT-7608-01A-11D-2086-08TCGA-HT-7608-10A-01D-2086-08g.chr15:83687454_83687457delCTTAc.e7+1
LGG158371889483718895+Frame_Shift_DelDELAAAA-TCGA-HW-7490-01A-11D-2024-08TCGA-HW-7490-10A-01D-2024-08g.chr15:83718894_83718895delAAc.594_595delTTc.(592-597)ctttgtfsp.C199fs
LGG158372517683725176+Missense_MutationSNPGGTTCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr15:83725176G>Tc.523C>Ac.(523-525)Ctt>Attp.L175I
LIHC158368688683686886+Missense_MutationSNPGGCTCGA-2Y-A9H3-01A-11D-A382-10TCGA-2Y-A9H3-10A-01D-A385-10g.chr15:83686886G>Cc.1382C>Gc.(1381-1383)tCc>tGcp.S461C
LIHC158368755383687553+Missense_MutationSNPCCTTCGA-BC-A10Z-01A-11D-A12Z-10TCGA-BC-A10Z-11A-11D-A12Z-10g.chr15:83687553C>Tc.1196G>Ac.(1195-1197)aGt>aAtp.S399N
LIHC158369899283698992+Nonsense_MutationSNPGGTTCGA-G3-A5SL-01A-11D-A27I-10TCGA-G3-A5SL-10A-01D-A27I-10g.chr15:83698992G>Tc.951C>Ac.(949-951)taC>taAp.Y317*
LIHC158371886883718868+SilentSNPTTCTCGA-UB-A7MB-01A-11D-A33Q-10TCGA-UB-A7MB-10A-01D-A33Q-10g.chr15:83718868T>Cc.621A>Gc.(619-621)acA>acGp.T207T
LUAD158369892183698921+Missense_MutationSNPCCATCGA-97-8172-01A-11D-2284-08TCGA-97-8172-10A-01D-2284-08g.chr15:83698921C>Ac.1022G>Tc.(1021-1023)cGc>cTcp.R341L
LUAD158372525883725258+SilentSNPTTGTCGA-99-8028-01A-11D-2238-08TCGA-99-8028-10A-01D-2238-08g.chr15:83725258T>Gc.441A>Cc.(439-441)acA>acCp.T147T
LUAD158373578483735784+SilentSNPCCATCGA-NJ-A4YQ-01A-11D-A25L-08TCGA-NJ-A4YQ-10A-01D-A25L-08g.chr15:83735784C>Ac.120G>Tc.(118-120)ctG>ctTp.L40L
OV158371886783718867+Missense_MutationSNPTTCTCGA-29-1783-01A-01W-0633-09TCGA-29-1783-10A-01W-0634-09g.chr15:83718867T>Cc.622A>Gc.(622-624)Atg>Gtgp.M208V
OV158372517983725179+Missense_MutationSNPGGCTCGA-10-0930-01A-02W-0421-09TCGA-10-0930-11A-01W-0977-09g.chr15:83725179G>Cc.520C>Gc.(520-522)Cat>Gatp.H174D
PRAD158371052883710528+Missense_MutationSNPGGATCGA-VP-A875-01A-31D-A34U-08TCGA-VP-A875-10A-01D-A34X-08g.chr15:83710528G>Ac.814C>Tc.(814-816)Ctt>Tttp.L272F
READ158371051083710510+Missense_MutationSNPGGATCGA-AG-A02N-01A-11W-A096-10TCGA-AG-A02N-11A-11W-A096-10g.chr15:83710510G>Ac.832C>Tc.(832-834)Cca>Tcap.P278S
READ158371882783718827+Missense_MutationSNPAAGTCGA-EI-6510-01A-11D-1733-10TCGA-EI-6510-10A-01D-1733-10g.chr15:83718827A>Gc.662T>Cc.(661-663)aTa>aCap.I221T
SKCM158368684783686847+Missense_MutationSNPTTCTCGA-FS-A4F5-06A-11D-A25O-08TCGA-FS-A4F5-10B-01D-A25O-08g.chr15:83686847T>Cc.1421A>Gc.(1420-1422)cAa>cGap.Q474R
SKCM158369900283699002+Missense_MutationSNPCCTTCGA-EE-A2GJ-06A-11D-A196-08TCGA-EE-A2GJ-10A-01D-A198-08g.chr15:83699002C>Tc.941G>Ac.(940-942)cGa>cAap.R314Q
SKCM158371890483718904+SilentSNPAAGTCGA-EE-A2MD-06A-11D-A197-08TCGA-EE-A2MD-10A-01D-A199-08g.chr15:83718904A>Gc.585T>Cc.(583-585)ctT>ctCp.L195L
SKCM158371891883718918+Missense_MutationSNPCCTTCGA-EE-A29L-06A-12D-A196-08TCGA-EE-A29L-10A-01D-A198-08g.chr15:83718918C>Tc.571G>Ac.(571-573)Gat>Aatp.D191N
SKCM158372521483725214+Missense_MutationSNPGGATCGA-D3-A3C7-06A-11D-A196-08TCGA-D3-A3C7-10A-01D-A198-08g.chr15:83725214G>Ac.485C>Tc.(484-486)gCc>gTcp.A162V
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BLCA-CN158371049883710498single base substitutionTC3_prime_UTR_variant
BLCA-CN158371049883710498single base substitutionTCexon_variant
BLCA-CN158371049883710498single base substitutionTCmissense_variantI282V844A>G
BLCA-US158369889483698894single base substitutionCT3_prime_UTR_variant
BLCA-US158369889483698894single base substitutionCTexon_variant
BLCA-US158369889483698894single base substitutionCTmissense_variantR350Q1049G>A
BLCA-US158371067083710670single base substitutionGCexon_variant
BLCA-US158371067083710670single base substitutionGCsynonymous_variantL224L672C>G
BLCA-US158371067083710670single base substitutionGCupstream_gene_variant
BLCA-US158373583683735836single base substitutionGAmissense_variantA23V68C>T
BRCA-EU158368158283681582single base substitutionCTdownstream_gene_variant
BRCA-EU158368174483681744single base substitutionCAdownstream_gene_variant
BRCA-EU158368311883683118single base substitutionGTdownstream_gene_variant
BRCA-EU158368341683683416single base substitutionTGdownstream_gene_variant
BRCA-EU158368383583683835single base substitutionGAdownstream_gene_variant
BRCA-EU158368388883683888deletion of <=200bpT-downstream_gene_variant
BRCA-EU158368389083683891deletion of <=200bpTA-downstream_gene_variant
BRCA-EU158368390883683908single base substitutionCGdownstream_gene_variant
BRCA-EU158368486483684864single base substitutionCGdownstream_gene_variant
BRCA-EU158368508283685082single base substitutionGAdownstream_gene_variant
BRCA-EU158368517583685175deletion of <=200bpT-3_prime_UTR_variant
BRCA-EU158368517583685175deletion of <=200bpT-downstream_gene_variant
BRCA-EU158368681183686811single base substitutionAC3_prime_UTR_variant
BRCA-EU158368681183686811single base substitutionACdownstream_gene_variant
BRCA-EU158368701783687017single base substitutionATdownstream_gene_variant
BRCA-EU158368701783687017single base substitutionATintron_variant
BRCA-EU158368728183687281single base substitutionCTdownstream_gene_variant
BRCA-EU158368728183687281single base substitutionCTintron_variant
BRCA-EU158368813683688136single base substitutionTAdownstream_gene_variant
BRCA-EU158368813683688136single base substitutionTAintron_variant
BRCA-EU158368857483688574single base substitutionCTdownstream_gene_variant
BRCA-EU158368857483688574single base substitutionCTintron_variant
BRCA-EU158369011283690112single base substitutionCTintron_variant
BRCA-EU158369055183690551single base substitutionGCintron_variant
BRCA-EU158369174183691741deletion of <=200bpA-intron_variant
BRCA-EU158369174183691741insertion of <=200bp-Aintron_variant
BRCA-EU158369230483692304single base substitutionTAintron_variant
BRCA-EU158369453183694531deletion of <=200bpT-downstream_gene_variant
BRCA-EU158369453183694531deletion of <=200bpT-intron_variant
BRCA-EU158369501983695019single base substitutionACdownstream_gene_variant
BRCA-EU158369501983695019single base substitutionACintron_variant
BRCA-EU158369549183695491single base substitutionCAdownstream_gene_variant
BRCA-EU158369549183695491single base substitutionCAintron_variant
BRCA-EU158369582383695823single base substitutionCGdownstream_gene_variant
BRCA-EU158369582383695823single base substitutionCGintron_variant
BRCA-EU158369610483696104single base substitutionCGdownstream_gene_variant
BRCA-EU158369610483696104single base substitutionCGintron_variant
BRCA-EU158369625883696258single base substitutionGAdownstream_gene_variant
BRCA-EU158369625883696258single base substitutionGAintron_variant
BRCA-EU158369724483697244deletion of <=200bpT-downstream_gene_variant
BRCA-EU158369724483697244deletion of <=200bpT-intron_variant
BRCA-EU158369798783697987single base substitutionGCdownstream_gene_variant
BRCA-EU158369798783697987single base substitutionGCintron_variant
BRCA-EU158369799383697993single base substitutionTAdownstream_gene_variant
BRCA-EU158369799383697993single base substitutionTAintron_variant
BRCA-EU158369910583699105deletion of <=200bpA-exon_variant
BRCA-EU158369910583699105deletion of <=200bpA-intron_variant
BRCA-EU158369927183699271single base substitutionAGexon_variant
BRCA-EU158369927183699271single base substitutionAGintron_variant
BRCA-EU158370014083700140single base substitutionTAintron_variant
BRCA-EU158370014083700140single base substitutionTAupstream_gene_variant
BRCA-EU158370090683700906single base substitutionCGintron_variant
BRCA-EU158370090683700906single base substitutionCGupstream_gene_variant
BRCA-EU158370093683700936single base substitutionAGintron_variant
BRCA-EU158370093683700936single base substitutionAGupstream_gene_variant
BRCA-EU158370189683701896single base substitutionGAintron_variant
BRCA-EU158370189683701896single base substitutionGAupstream_gene_variant
BRCA-EU158370345083703450deletion of <=200bpA-intron_variant
BRCA-EU158370345083703450deletion of <=200bpA-upstream_gene_variant
BRCA-EU158370439383704393single base substitutionGAintron_variant
BRCA-EU158370439383704393single base substitutionGAupstream_gene_variant
BRCA-EU158370511783705117single base substitutionAGintron_variant
BRCA-EU158370587383705873deletion of <=200bpA-intron_variant
BRCA-EU158370614783706147single base substitutionTCintron_variant
BRCA-EU158370660083706600single base substitutionCTintron_variant
BRCA-EU158370684683706846deletion of <=200bpA-intron_variant
BRCA-EU158370692383706929deletion of <=200bpAAGTCAG-intron_variant
BRCA-EU158370795183707951single base substitutionCGintron_variant
BRCA-EU158370866583708665single base substitutionCGintron_variant
BRCA-EU158371081283710812single base substitutionAGintron_variant
BRCA-EU158371081283710812single base substitutionAGupstream_gene_variant
BRCA-EU158371081583710815single base substitutionCAintron_variant
BRCA-EU158371081583710815single base substitutionCAupstream_gene_variant
BRCA-EU158371351883713518single base substitutionGCintron_variant
BRCA-EU158371351883713518single base substitutionGCupstream_gene_variant
BRCA-EU158371369583713695single base substitutionGAintron_variant
BRCA-EU158371369583713695single base substitutionGAupstream_gene_variant
BRCA-EU158371378983713789single base substitutionGTintron_variant
BRCA-EU158371378983713789single base substitutionGTupstream_gene_variant
BRCA-EU158371389183713891single base substitutionAGintron_variant
BRCA-EU158371389183713891single base substitutionAGupstream_gene_variant
BRCA-EU158371552283715522single base substitutionGAintron_variant
BRCA-EU158371552283715522single base substitutionGAupstream_gene_variant
BRCA-EU158371616283716162single base substitutionGAintron_variant
BRCA-EU158372074183720741single base substitutionCAintron_variant
BRCA-EU158372191383721913single base substitutionCGintron_variant
BRCA-EU158372200783722007single base substitutionCGintron_variant
BRCA-EU158372208683722086single base substitutionTCintron_variant
BRCA-EU158372308983723089insertion of <=200bp-Aintron_variant
BRCA-EU158372340783723407single base substitutionGAintron_variant
BRCA-EU158372470183724701insertion of <=200bp-Tintron_variant
BRCA-EU158372561683725616single base substitutionACintron_variant
BRCA-EU158372561683725616single base substitutionACupstream_gene_variant
BRCA-EU158372655383726553single base substitutionCTintron_variant
BRCA-EU158372655383726553single base substitutionCTupstream_gene_variant
BRCA-EU158372714383727144deletion of <=200bpGA-intron_variant
BRCA-EU158372714383727144deletion of <=200bpGA-upstream_gene_variant
BRCA-EU158372749283727492single base substitutionAGintron_variant
BRCA-EU158372749283727492single base substitutionAGupstream_gene_variant
BRCA-EU158372750783727507single base substitutionCTintron_variant
BRCA-EU158372750783727507single base substitutionCTupstream_gene_variant
BRCA-EU158372772083727720single base substitutionGCintron_variant
BRCA-EU158372772083727720single base substitutionGCupstream_gene_variant
BRCA-EU158372900483729004single base substitutionCGintron_variant
BRCA-EU158372900483729004single base substitutionCGupstream_gene_variant
BRCA-EU158372922883729228deletion of <=200bpC-intron_variant
BRCA-EU158372922883729228deletion of <=200bpC-upstream_gene_variant
BRCA-EU158373000683730006single base substitutionGAintron_variant
BRCA-EU158373000683730006single base substitutionGAupstream_gene_variant
BRCA-EU158373144083731440single base substitutionGCintron_variant
BRCA-EU158373250083732500single base substitutionCTintron_variant
BRCA-EU158373258283732582single base substitutionCTintron_variant
BRCA-EU158373333283733332single base substitutionTCintron_variant
BRCA-EU158373377683733776single base substitutionCGintron_variant
BRCA-EU158373378483733784single base substitutionGAintron_variant
BRCA-EU158373591683735916single base substitutionCG5_prime_UTR_variant
BRCA-EU158373591683735916single base substitutionCGupstream_gene_variant
BRCA-EU158373645583736455single base substitutionCTupstream_gene_variant
BRCA-EU158373692283736922single base substitutionGAupstream_gene_variant
BRCA-EU158373742483737424single base substitutionGCupstream_gene_variant
BRCA-EU158373763883737638single base substitutionTAupstream_gene_variant
BRCA-EU158373765183737651single base substitutionCAupstream_gene_variant
BRCA-EU158373790783737907single base substitutionCAupstream_gene_variant
BRCA-EU158373804983738049deletion of <=200bpT-upstream_gene_variant
BRCA-EU158373886783738867single base substitutionGCupstream_gene_variant
BRCA-EU158373890283738902single base substitutionGAupstream_gene_variant
BRCA-EU158373923583739235single base substitutionGCupstream_gene_variant
BRCA-EU158373943183739431single base substitutionATupstream_gene_variant
BRCA-EU158374066183740661single base substitutionGTupstream_gene_variant
BRCA-EU158374101083741010single base substitutionGTupstream_gene_variant
BRCA-FR158368390883683908single base substitutionCGdownstream_gene_variant
BRCA-FR158368486483684864single base substitutionCGdownstream_gene_variant
BRCA-FR158369867383698673single base substitutionCGintron_variant
BRCA-FR158370236383702363single base substitutionCTintron_variant
BRCA-FR158370236383702363single base substitutionCTupstream_gene_variant
BRCA-FR158370795183707951single base substitutionCGintron_variant
BRCA-FR158370866583708665single base substitutionCGintron_variant
BRCA-FR158372074183720741single base substitutionCAintron_variant
BRCA-FR158372191383721913single base substitutionCGintron_variant
BRCA-FR158372750783727507single base substitutionCTintron_variant
BRCA-FR158372750783727507single base substitutionCTupstream_gene_variant
BRCA-FR158373377683733776single base substitutionCGintron_variant
BRCA-FR158373401783734017single base substitutionCAintron_variant
BRCA-FR158373790783737907single base substitutionCAupstream_gene_variant
BRCA-UK158368341683683416single base substitutionTGdownstream_gene_variant
BRCA-UK158368857483688574single base substitutionCTdownstream_gene_variant
BRCA-UK158368857483688574single base substitutionCTintron_variant
BRCA-UK158369287483692874single base substitutionCAintron_variant
BRCA-UK158370250483702504single base substitutionATintron_variant
BRCA-UK158370250483702504single base substitutionATupstream_gene_variant
BRCA-UK158370843183708431single base substitutionGCintron_variant
BRCA-UK158371218483712184single base substitutionCGintron_variant
BRCA-UK158371218483712184single base substitutionCGupstream_gene_variant
BRCA-UK158371506083715060single base substitutionTCintron_variant
BRCA-UK158371506083715060single base substitutionTCupstream_gene_variant
BRCA-UK158372772083727720single base substitutionGCintron_variant
BRCA-UK158372772083727720single base substitutionGCupstream_gene_variant
BRCA-US158368684883686848single base substitutionGT3_prime_UTR_variant
BRCA-US158368684883686848single base substitutionGTdownstream_gene_variant
BRCA-US158368684883686848single base substitutionGTmissense_variantQ474K1420C>A
BRCA-US158368755483687554single base substitutionTG3_prime_UTR_variant
BRCA-US158368755483687554single base substitutionTGdownstream_gene_variant
BRCA-US158368755483687554single base substitutionTGmissense_variantL369F1107A>C
BRCA-US158368755483687554single base substitutionTGmissense_variantS399R1195A>C
BRCA-US158371059383710593single base substitutionGA3_prime_UTR_variant
BRCA-US158371059383710593single base substitutionGAmissense_variantA250V749C>T
BRCA-US158371059383710593single base substitutionGAupstream_gene_variant
BRCA-US158371059483710594single base substitutionCT3_prime_UTR_variant
BRCA-US158371059483710594single base substitutionCTmissense_variantA250T748G>A
BRCA-US158371059483710594single base substitutionCTupstream_gene_variant
BRCA-US158371063183710631single base substitutionTG3_prime_UTR_variant
BRCA-US158371063183710631single base substitutionTGmissense_variantE237D711A>C
BRCA-US158371063183710631single base substitutionTGupstream_gene_variant
BRCA-US158371063483710634single base substitutionTG3_prime_UTR_variant
BRCA-US158371063483710634single base substitutionTGsynonymous_variantR236R708A>C
BRCA-US158371063483710634single base substitutionTGupstream_gene_variant
BTCA-JP158368939283689392single base substitutionTAdownstream_gene_variant
BTCA-JP158368939283689392single base substitutionTAintron_variant
BTCA-JP158371868583718685deletion of <=200bpA-intron_variant
BTCA-JP158371900483719004single base substitutionTCintron_variant
CESC-US158368034883680348single base substitutionGAdownstream_gene_variant
CESC-US158368035183680351single base substitutionCTdownstream_gene_variant
CESC-US158371883483718834single base substitutionTCintron_variant
CESC-US158371883483718834single base substitutionTCmissense_variantI219V655A>G
CESC-US158373572783735727single base substitutionGAsynonymous_variantF59F177C>T
COAD-US158368028783680287single base substitutionAGdownstream_gene_variant
COAD-US158368032983680329single base substitutionGAdownstream_gene_variant
COAD-US158368748183687481single base substitutionTC3_prime_UTR_variant
COAD-US158368748183687481single base substitutionTCdownstream_gene_variant
COAD-US158368748183687481single base substitutionTCmissense_variantY423C1268A>G
COAD-US158368758683687586deletion of <=200bpT-3_prime_UTR_variant
COAD-US158368758683687586deletion of <=200bpT-downstream_gene_variant
COAD-US158368758683687586deletion of <=200bpT-frameshift_variantK388
COAD-US158368758683687586deletion of <=200bpT-frameshift_variantS359
COCA-CN158369898083698980single base substitutionTC3_prime_UTR_variant
COCA-CN158369898083698980single base substitutionTCexon_variant
COCA-CN158369898083698980single base substitutionTCsynonymous_variantP321P963A>G
COCA-CN158371047383710473single base substitutionCTintron_variant
COCA-CN158371047383710473single base substitutionCTsplice_region_variant
COCA-CN158371883183718831single base substitutionCAintron_variant
COCA-CN158371883183718831single base substitutionCAmissense_variantD220Y658G>T
COCA-CN158371897183718971single base substitutionTGintron_variant
EOPC-DE158369779183697791single base substitutionAGdownstream_gene_variant
EOPC-DE158369779183697791single base substitutionAGintron_variant
ESAD-UK158368107783681077single base substitutionGAdownstream_gene_variant
ESAD-UK158368107883681078single base substitutionCAdownstream_gene_variant
ESAD-UK158368244083682443deletion of <=200bpTTAA-downstream_gene_variant
ESAD-UK158368511083685110deletion of <=200bpA-downstream_gene_variant
ESAD-UK158368658483686584insertion of <=200bp-T3_prime_UTR_variant
ESAD-UK158368658483686584insertion of <=200bp-Tdownstream_gene_variant
ESAD-UK158369047383690473single base substitutionGAintron_variant
ESAD-UK158369447583694475single base substitutionCGdownstream_gene_variant
ESAD-UK158369447583694475single base substitutionCGintron_variant
ESAD-UK158369579583695795single base substitutionTCdownstream_gene_variant
ESAD-UK158369579583695795single base substitutionTCintron_variant
ESAD-UK158369757083697570single base substitutionTCdownstream_gene_variant
ESAD-UK158369757083697570single base substitutionTCintron_variant
ESAD-UK158369831283698312single base substitutionCAexon_variant
ESAD-UK158369831283698312single base substitutionCAintron_variant
ESAD-UK158370191483701914single base substitutionCGintron_variant
ESAD-UK158370191483701914single base substitutionCGupstream_gene_variant
ESAD-UK158370197383701973single base substitutionATintron_variant
ESAD-UK158370197383701973single base substitutionATupstream_gene_variant
ESAD-UK158370458583704585deletion of <=200bpA-intron_variant
ESAD-UK158370564883705648single base substitutionCGintron_variant
ESAD-UK158370569783705697single base substitutionGAintron_variant
ESAD-UK158370579683705796deletion of <=200bpA-intron_variant
ESAD-UK158370579683705796single base substitutionATintron_variant
ESAD-UK158370811583708115insertion of <=200bp-Aintron_variant
ESAD-UK158370874783708770deletion of <=200bpACACACACACACACACACACACGG-intron_variant
ESAD-UK158370924483709244single base substitutionCAintron_variant
ESAD-UK158370964983709649single base substitutionTCintron_variant
ESAD-UK158370965083709650single base substitutionGAintron_variant
ESAD-UK158370986583709865single base substitutionCTintron_variant
ESAD-UK158371006183710061single base substitutionCTintron_variant
ESAD-UK158371245483712454single base substitutionTCintron_variant
ESAD-UK158371245483712454single base substitutionTCupstream_gene_variant
ESAD-UK158371360183713601insertion of <=200bp-Tintron_variant
ESAD-UK158371360183713601insertion of <=200bp-Tupstream_gene_variant
ESAD-UK158371509783715097single base substitutionCTintron_variant
ESAD-UK158371509783715097single base substitutionCTupstream_gene_variant
ESAD-UK158371523083715230single base substitutionCTintron_variant
ESAD-UK158371523083715230single base substitutionCTupstream_gene_variant
ESAD-UK158371750883717508insertion of <=200bp-Aintron_variant
ESAD-UK158372106783721067single base substitutionACintron_variant
ESAD-UK158372236283722362single base substitutionGCintron_variant
ESAD-UK158372246183722461single base substitutionGAintron_variant
ESAD-UK158372282983722829single base substitutionGAintron_variant
ESAD-UK158372461783724617single base substitutionCGintron_variant
ESAD-UK158372728683727286single base substitutionGAintron_variant
ESAD-UK158372728683727286single base substitutionGAupstream_gene_variant
ESAD-UK158372782883727828single base substitutionGAintron_variant
ESAD-UK158372782883727828single base substitutionGAupstream_gene_variant
ESAD-UK158372900483729004single base substitutionCTintron_variant
ESAD-UK158372900483729004single base substitutionCTupstream_gene_variant
ESAD-UK158372973783729737single base substitutionACintron_variant
ESAD-UK158372973783729737single base substitutionACupstream_gene_variant
ESAD-UK158373354283733542single base substitutionCGintron_variant
ESAD-UK158373361283733612insertion of <=200bp-Cintron_variant
ESAD-UK158373454183734541single base substitutionTCintron_variant
ESAD-UK158373535383735353single base substitutionAGintron_variant
ESAD-UK158373593483735934single base substitutionAC5_prime_UTR_variant
ESAD-UK158373593483735934single base substitutionACupstream_gene_variant
ESAD-UK158373754583737545single base substitutionGAupstream_gene_variant
ESAD-UK158373763183737631deletion of <=200bpA-upstream_gene_variant
ESAD-UK158373847083738470deletion of <=200bpT-upstream_gene_variant
ESAD-UK158373872383738723single base substitutionTGupstream_gene_variant
ESAD-UK158373944183739441deletion of <=200bpA-upstream_gene_variant
ESAD-UK158373947483739474single base substitutionCTupstream_gene_variant
ESAD-UK158374099583740995single base substitutionGCupstream_gene_variant
ESCA-CN158368032683680326single base substitutionGAdownstream_gene_variant
ESCA-CN158368760383687603single base substitutionGCdownstream_gene_variant
ESCA-CN158368760383687603single base substitutionGCmissense_variantI382M1146C>G
ESCA-CN158368760383687603single base substitutionGCsplice_region_variant
ESCA-CN158368760383687603single base substitutionGCstop_gainedS353*1058C>G
GBM-US158372517983725179single base substitutionGAexon_variant
GBM-US158372517983725179single base substitutionGAmissense_variantH174Y520C>T
LAML-KR158368028783680287single base substitutionAGdownstream_gene_variant
LAML-KR158371078283710782single base substitutionATintron_variant
LAML-KR158371078283710782single base substitutionATupstream_gene_variant
LGG-US158368745483687457deletion of <=200bpCTTA-downstream_gene_variant
LGG-US158368745483687457deletion of <=200bpCTTA-splice_donor_variant
LGG-US158371889483718895deletion of <=200bpAA-frameshift_variantLC198
LGG-US158371889483718895deletion of <=200bpAA-intron_variant
LICA-FR158368687183686871single base substitutionTC3_prime_UTR_variant
LICA-FR158368687183686871single base substitutionTCdownstream_gene_variant
LICA-FR158368687183686871single base substitutionTCmissense_variantN466S1397A>G
LICA-FR158368834283688342deletion of <=200bpT-downstream_gene_variant
LICA-FR158368834283688342deletion of <=200bpT-intron_variant
LICA-FR158370284383702843deletion of <=200bpA-intron_variant
LICA-FR158370284383702843deletion of <=200bpA-upstream_gene_variant
LICA-FR158370581683705816single base substitutionTCintron_variant
LICA-FR158370717883707178single base substitutionTCintron_variant
LICA-FR158372022783720227insertion of <=200bp-TAintron_variant
LICA-FR158372063083720630insertion of <=200bp-ACACACACACACACintron_variant
LICA-FR158373510583735105single base substitutionGAintron_variant
LIHC-US158368755383687553single base substitutionCT3_prime_UTR_variant
LIHC-US158368755383687553single base substitutionCTdownstream_gene_variant
LIHC-US158368755383687553single base substitutionCTmissense_variantS399N1196G>A
LIHC-US158368755383687553single base substitutionCTmissense_variantV370I1108G>A
LIHC-US158369899283698992single base substitutionGT3_prime_UTR_variant
LIHC-US158369899283698992single base substitutionGTexon_variant
LIHC-US158369899283698992single base substitutionGTstop_gainedY317*951C>A
LIHC-US158371886883718868single base substitutionTCintron_variant
LIHC-US158371886883718868single base substitutionTCsynonymous_variantT207T621A>G
LINC-JP158370220383702203single base substitutionGAintron_variant
LINC-JP158370220383702203single base substitutionGAupstream_gene_variant
LINC-JP158371169483711694single base substitutionCTintron_variant
LINC-JP158371169483711694single base substitutionCTupstream_gene_variant
LINC-JP158371306683713066single base substitutionGCintron_variant
LINC-JP158371306683713066single base substitutionGCupstream_gene_variant
LINC-JP158372648383726483single base substitutionCTintron_variant
LINC-JP158372648383726483single base substitutionCTupstream_gene_variant
LINC-JP158372949583729495single base substitutionAGintron_variant
LINC-JP158372949583729495single base substitutionAGupstream_gene_variant
LINC-JP158373545483735454single base substitutionGAintron_variant
LINC-JP158373574483735747deletion of <=200bpACGC-frameshift_variantAS53
LINC-JP158373577583735775single base substitutionTCsynonymous_variantE43E129A>G
LINC-JP158373696183736961single base substitutionGAupstream_gene_variant
LIRI-JP158368313683683136single base substitutionGAdownstream_gene_variant
LIRI-JP158368336183683361single base substitutionGTdownstream_gene_variant
LIRI-JP158368355383683553insertion of <=200bp-Adownstream_gene_variant
LIRI-JP158368535483685354single base substitutionTC3_prime_UTR_variant
LIRI-JP158368535483685354single base substitutionTCdownstream_gene_variant
LIRI-JP158368727483687274single base substitutionTCdownstream_gene_variant
LIRI-JP158368727483687274single base substitutionTCintron_variant
LIRI-JP158368841983688419single base substitutionCAdownstream_gene_variant
LIRI-JP158368841983688419single base substitutionCAintron_variant
LIRI-JP158369001883690018single base substitutionTGintron_variant
LIRI-JP158369684983696849single base substitutionTCdownstream_gene_variant
LIRI-JP158369684983696849single base substitutionTCintron_variant
LIRI-JP158369703983697039single base substitutionCTdownstream_gene_variant
LIRI-JP158369703983697039single base substitutionCTintron_variant
LIRI-JP158370011583700115single base substitutionGTintron_variant
LIRI-JP158370011583700115single base substitutionGTupstream_gene_variant
LIRI-JP158370518383705183single base substitutionGAintron_variant
LIRI-JP158370560883705608single base substitutionTCintron_variant
LIRI-JP158370581283705812single base substitutionCTintron_variant
LIRI-JP158370627783706277single base substitutionCGintron_variant
LIRI-JP158370712583707125single base substitutionTCintron_variant
LIRI-JP158371007183710071single base substitutionGAintron_variant
LIRI-JP158371277883712778single base substitutionTCintron_variant
LIRI-JP158371277883712778single base substitutionTCupstream_gene_variant
LIRI-JP158371684983716849single base substitutionGTintron_variant
LIRI-JP158371758483717584single base substitutionTAintron_variant
LIRI-JP158371882883718828single base substitutionTCintron_variant
LIRI-JP158371882883718828single base substitutionTCmissense_variantI221V661A>G
LIRI-JP158371975883719758single base substitutionTAintron_variant
LIRI-JP158372189583721895single base substitutionCTintron_variant
LIRI-JP158372347383723473single base substitutionCTintron_variant
LIRI-JP158372422383724223single base substitutionTGintron_variant
LIRI-JP158372472483724724single base substitutionTAintron_variant
LIRI-JP158372730883727308single base substitutionCGintron_variant
LIRI-JP158372730883727308single base substitutionCGupstream_gene_variant
LIRI-JP158372819183728191single base substitutionGTintron_variant
LIRI-JP158372819183728191single base substitutionGTupstream_gene_variant
LIRI-JP158372864483728644single base substitutionTCintron_variant
LIRI-JP158372864483728644single base substitutionTCupstream_gene_variant
LIRI-JP158373161983731619single base substitutionAGintron_variant
LIRI-JP158373164383731643single base substitutionCTintron_variant
LIRI-JP158373173183731731single base substitutionCTintron_variant
LIRI-JP158373226383732263single base substitutionTAintron_variant
LIRI-JP158373279583732795single base substitutionGAintron_variant
LIRI-JP158373448883734488single base substitutionGCintron_variant
LIRI-JP158373980883739808single base substitutionAGupstream_gene_variant
LIRI-JP158374106483741064single base substitutionGTupstream_gene_variant
LUSC-KR158368050283680502single base substitutionGTdownstream_gene_variant
LUSC-KR158368192983681929single base substitutionGCdownstream_gene_variant
LUSC-KR158368544083685440single base substitutionAG3_prime_UTR_variant
LUSC-KR158368544083685440single base substitutionAGdownstream_gene_variant
LUSC-KR158368558683685586single base substitutionAG3_prime_UTR_variant
LUSC-KR158368558683685586single base substitutionAGdownstream_gene_variant
LUSC-KR158368577383685773single base substitutionAG3_prime_UTR_variant
LUSC-KR158368577383685773single base substitutionAGdownstream_gene_variant
LUSC-KR158368675983686759single base substitutionTC3_prime_UTR_variant
LUSC-KR158368675983686759single base substitutionTCdownstream_gene_variant
LUSC-KR158368968883689688single base substitutionCTintron_variant
LUSC-KR158369047783690477single base substitutionGAintron_variant
LUSC-KR158369702983697029single base substitutionTGdownstream_gene_variant
LUSC-KR158369702983697029single base substitutionTGintron_variant
LUSC-KR158370024683700246single base substitutionTCintron_variant
LUSC-KR158370024683700246single base substitutionTCupstream_gene_variant
LUSC-KR158370044983700449single base substitutionTCintron_variant
LUSC-KR158370044983700449single base substitutionTCupstream_gene_variant
LUSC-KR158370854783708547single base substitutionCAintron_variant
LUSC-KR158370989483709894single base substitutionACintron_variant
LUSC-KR158371298783712987single base substitutionAGintron_variant
LUSC-KR158371298783712987single base substitutionAGupstream_gene_variant
LUSC-KR158371344283713442single base substitutionACintron_variant
LUSC-KR158371344283713442single base substitutionACupstream_gene_variant
LUSC-KR158372416083724160single base substitutionCAintron_variant
LUSC-KR158372864283728642single base substitutionCAintron_variant
LUSC-KR158372864283728642single base substitutionCAupstream_gene_variant
LUSC-KR158372923783729237single base substitutionTGintron_variant
LUSC-KR158372923783729237single base substitutionTGupstream_gene_variant
LUSC-KR158373556483735564single base substitutionTAmissense_variantT114S340A>T
LUSC-KR158374020383740203single base substitutionGAupstream_gene_variant
LUSC-KR158374029283740292single base substitutionGTupstream_gene_variant
LUSC-KR158374093983740939single base substitutionTCupstream_gene_variant
MALY-DE158368019983680199single base substitutionCGdownstream_gene_variant
MALY-DE158370029083700290single base substitutionACintron_variant
MALY-DE158370029083700290single base substitutionACupstream_gene_variant
MALY-DE158370029983700299single base substitutionATintron_variant
MALY-DE158370029983700299single base substitutionATupstream_gene_variant
MALY-DE158370690783706907single base substitutionTCintron_variant
MALY-DE158371073383710733single base substitutionGCintron_variant
MALY-DE158371073383710733single base substitutionGCupstream_gene_variant
MALY-DE158371110183711102deletion of <=200bpTA-intron_variant
MALY-DE158371110183711102deletion of <=200bpTA-upstream_gene_variant
MALY-DE158371615383716153single base substitutionCAintron_variant
MALY-DE158371617483716174single base substitutionGAintron_variant
MALY-DE158373239183732391single base substitutionTCintron_variant
MELA-AU158368038383680383single base substitutionGAdownstream_gene_variant
MELA-AU158368046183680461single base substitutionCTdownstream_gene_variant
MELA-AU158368317483683174single base substitutionGAdownstream_gene_variant
MELA-AU158368386083683860single base substitutionTAdownstream_gene_variant
MELA-AU158368390583683905single base substitutionTCdownstream_gene_variant
MELA-AU158368414483684144single base substitutionTCdownstream_gene_variant
MELA-AU158368546583685465single base substitutionGA3_prime_UTR_variant
MELA-AU158368546583685465single base substitutionGAdownstream_gene_variant
MELA-AU158368687083686870single base substitutionAT3_prime_UTR_variant
MELA-AU158368687083686870single base substitutionATdownstream_gene_variant
MELA-AU158368687083686870single base substitutionATmissense_variantN466K1398T>A
MELA-AU158368863083688630single base substitutionGAdownstream_gene_variant
MELA-AU158368863083688630single base substitutionGAintron_variant
MELA-AU158368888483688884single base substitutionAGdownstream_gene_variant
MELA-AU158368888483688884single base substitutionAGintron_variant
MELA-AU158368914883689148single base substitutionGAdownstream_gene_variant
MELA-AU158368914883689148single base substitutionGAintron_variant
MELA-AU158368932083689320single base substitutionGAdownstream_gene_variant
MELA-AU158368932083689320single base substitutionGAintron_variant
MELA-AU158368932283689322single base substitutionTAdownstream_gene_variant
MELA-AU158368932283689322single base substitutionTAintron_variant
MELA-AU158369024283690242single base substitutionCTintron_variant
MELA-AU158369131683691317multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU158369177083691770single base substitutionGAintron_variant
MELA-AU158369259183692591single base substitutionGAintron_variant
MELA-AU158369268383692683single base substitutionGAintron_variant
MELA-AU158369441983694419single base substitutionACdownstream_gene_variant
MELA-AU158369441983694419single base substitutionACintron_variant
MELA-AU158369443783694437single base substitutionACdownstream_gene_variant
MELA-AU158369443783694437single base substitutionACintron_variant
MELA-AU158369511783695117single base substitutionGAdownstream_gene_variant
MELA-AU158369511783695117single base substitutionGAintron_variant
MELA-AU158369563283695633multiple base substitution (>=2bp and <=200bp)GGAAdownstream_gene_variant
MELA-AU158369563283695633multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU158369622183696221single base substitutionCTdownstream_gene_variant
MELA-AU158369622183696221single base substitutionCTintron_variant
MELA-AU158369632783696327single base substitutionGAdownstream_gene_variant
MELA-AU158369632783696327single base substitutionGAintron_variant
MELA-AU158369639083696390single base substitutionTGdownstream_gene_variant
MELA-AU158369639083696390single base substitutionTGintron_variant
MELA-AU158369754783697547single base substitutionATdownstream_gene_variant
MELA-AU158369754783697547single base substitutionATintron_variant
MELA-AU158369801683698016single base substitutionGAdownstream_gene_variant
MELA-AU158369801683698016single base substitutionGAintron_variant
MELA-AU158369943183699431single base substitutionAGexon_variant
MELA-AU158369943183699431single base substitutionAGintron_variant
MELA-AU158370010883700108single base substitutionCTintron_variant
MELA-AU158370010883700108single base substitutionCTupstream_gene_variant
MELA-AU158370024583700245single base substitutionGAintron_variant
MELA-AU158370024583700245single base substitutionGAupstream_gene_variant
MELA-AU158370112283701122single base substitutionCTintron_variant
MELA-AU158370112283701122single base substitutionCTupstream_gene_variant
MELA-AU158370248583702485single base substitutionAGintron_variant
MELA-AU158370248583702485single base substitutionAGupstream_gene_variant
MELA-AU158370335283703352single base substitutionGAintron_variant
MELA-AU158370335283703352single base substitutionGAupstream_gene_variant
MELA-AU158370335383703353single base substitutionGAintron_variant
MELA-AU158370335383703353single base substitutionGAupstream_gene_variant
MELA-AU158370385483703854single base substitutionTAintron_variant
MELA-AU158370385483703854single base substitutionTAupstream_gene_variant
MELA-AU158370538683705386single base substitutionCTintron_variant
MELA-AU158370682783706827single base substitutionAGintron_variant
MELA-AU158370696283706962single base substitutionGCintron_variant
MELA-AU158370705483707054single base substitutionGAintron_variant
MELA-AU158370786383707863single base substitutionGAintron_variant
MELA-AU158370900883709008single base substitutionGAintron_variant
MELA-AU158370900983709009single base substitutionGAintron_variant
MELA-AU158370952183709521single base substitutionGAintron_variant
MELA-AU158371052483710524single base substitutionGA3_prime_UTR_variant
MELA-AU158371052483710524single base substitutionGAexon_variant
MELA-AU158371052483710524single base substitutionGAmissense_variantS273F818C>T
MELA-AU158371196783711967single base substitutionGTintron_variant
MELA-AU158371196783711967single base substitutionGTupstream_gene_variant
MELA-AU158371224283712242single base substitutionGAintron_variant
MELA-AU158371224283712242single base substitutionGAupstream_gene_variant
MELA-AU158371249583712495single base substitutionGAintron_variant
MELA-AU158371249583712495single base substitutionGAupstream_gene_variant
MELA-AU158371272183712721single base substitutionAGintron_variant
MELA-AU158371272183712721single base substitutionAGupstream_gene_variant
MELA-AU158371309183713091single base substitutionCTintron_variant
MELA-AU158371309183713091single base substitutionCTupstream_gene_variant
MELA-AU158371379183713791single base substitutionAGintron_variant
MELA-AU158371379183713791single base substitutionAGupstream_gene_variant
MELA-AU158371390583713905single base substitutionGAintron_variant
MELA-AU158371390583713905single base substitutionGAupstream_gene_variant
MELA-AU158371422383714223single base substitutionCTintron_variant
MELA-AU158371422383714223single base substitutionCTupstream_gene_variant
MELA-AU158371476783714767single base substitutionGAintron_variant
MELA-AU158371476783714767single base substitutionGAupstream_gene_variant
MELA-AU158371501483715014single base substitutionGAintron_variant
MELA-AU158371501483715014single base substitutionGAupstream_gene_variant
MELA-AU158371539483715394single base substitutionGAintron_variant
MELA-AU158371539483715394single base substitutionGAupstream_gene_variant
MELA-AU158371597283715972single base substitutionGAintron_variant
MELA-AU158371600583716005single base substitutionGAintron_variant
MELA-AU158371601683716016single base substitutionGAintron_variant
MELA-AU158371610983716109single base substitutionGAintron_variant
MELA-AU158371720583717205single base substitutionCAintron_variant
MELA-AU158371737683717378deletion of <=200bpAAC-intron_variant
MELA-AU158371797683717976single base substitutionCTintron_variant
MELA-AU158371890483718904single base substitutionAGintron_variant
MELA-AU158371890483718904single base substitutionAGsynonymous_variantL195L585T>C
MELA-AU158371891883718918single base substitutionCTintron_variant
MELA-AU158371891883718918single base substitutionCTmissense_variantD191N571G>A
MELA-AU158372066583720665single base substitutionGAintron_variant
MELA-AU158372116283721162single base substitutionGAintron_variant
MELA-AU158372130183721301single base substitutionGAintron_variant
MELA-AU158372239683722396single base substitutionACintron_variant
MELA-AU158372309983723099single base substitutionGAintron_variant
MELA-AU158372424883724248single base substitutionGAintron_variant
MELA-AU158372425083724250single base substitutionTAintron_variant
MELA-AU158372494383724943single base substitutionCAintron_variant
MELA-AU158372521983725219single base substitutionGAexon_variant
MELA-AU158372521983725219single base substitutionGAsynonymous_variantV160V480C>T
MELA-AU158372581483725814single base substitutionGAintron_variant
MELA-AU158372581483725814single base substitutionGAupstream_gene_variant
MELA-AU158372709183727091single base substitutionCTintron_variant
MELA-AU158372709183727091single base substitutionCTupstream_gene_variant
MELA-AU158372724483727244single base substitutionCTintron_variant
MELA-AU158372724483727244single base substitutionCTupstream_gene_variant
MELA-AU158372911183729111single base substitutionGAintron_variant
MELA-AU158372911183729111single base substitutionGAupstream_gene_variant
MELA-AU158372936783729368deletion of <=200bpAA-intron_variant
MELA-AU158372936783729368deletion of <=200bpAA-upstream_gene_variant
MELA-AU158372953283729532single base substitutionGAintron_variant
MELA-AU158372953283729532single base substitutionGAupstream_gene_variant
MELA-AU158372968583729685single base substitutionGTintron_variant
MELA-AU158372968583729685single base substitutionGTupstream_gene_variant
MELA-AU158373061183730611single base substitutionTCintron_variant
MELA-AU158373086083730860single base substitutionGAintron_variant
MELA-AU158373129683731296single base substitutionGAintron_variant
MELA-AU158373232283732322single base substitutionGAintron_variant
MELA-AU158373312983733129single base substitutionGAintron_variant
MELA-AU158373354883733548single base substitutionGAintron_variant
MELA-AU158373361283733612single base substitutionCTintron_variant
MELA-AU158373462383734623single base substitutionGAintron_variant
MELA-AU158373506183735061insertion of <=200bp-Gintron_variant
MELA-AU158373781383737813single base substitutionTCupstream_gene_variant
MELA-AU158373806783738067single base substitutionCTupstream_gene_variant
MELA-AU158373824783738247single base substitutionCTupstream_gene_variant
MELA-AU158373854483738544single base substitutionCTupstream_gene_variant
MELA-AU158373862883738628single base substitutionCTupstream_gene_variant
MELA-AU158373880283738802single base substitutionCTupstream_gene_variant
MELA-AU158373881883738818single base substitutionGAupstream_gene_variant
MELA-AU158373884983738849single base substitutionGAupstream_gene_variant
MELA-AU158373913783739137single base substitutionGAupstream_gene_variant
MELA-AU158373951983739519single base substitutionCTupstream_gene_variant
MELA-AU158373991183739911single base substitutionGAupstream_gene_variant
MELA-AU158373994883739948single base substitutionGAupstream_gene_variant
MELA-AU158374011783740117single base substitutionCTupstream_gene_variant
MELA-AU158374016383740163single base substitutionCTupstream_gene_variant
MELA-AU158374036183740361single base substitutionGAupstream_gene_variant
MELA-AU158374036483740364single base substitutionAGupstream_gene_variant
MELA-AU158374059483740594single base substitutionCTupstream_gene_variant
MELA-AU158374073883740738single base substitutionGAupstream_gene_variant
MELA-AU158374080483740804single base substitutionCTupstream_gene_variant
MELA-AU158374085283740852single base substitutionATupstream_gene_variant
MELA-AU158374085883740858single base substitutionGAupstream_gene_variant
MELA-AU158374106583741065single base substitutionGAupstream_gene_variant
ORCA-IN158368034883680348single base substitutionGAdownstream_gene_variant
ORCA-IN158368743483687434single base substitutionCTdownstream_gene_variant
ORCA-IN158368743483687434single base substitutionCTintron_variant
ORCA-IN158368754883687548single base substitutionCG3_prime_UTR_variant
ORCA-IN158368754883687548single base substitutionCGdownstream_gene_variant
ORCA-IN158368754883687548single base substitutionCGmissense_variantD401H1201G>C
ORCA-IN158368754883687548single base substitutionCGsynonymous_variantV371V1113G>C
ORCA-IN158369413383694133deletion of <=200bpG-downstream_gene_variant
ORCA-IN158369413383694133deletion of <=200bpG-intron_variant
ORCA-IN158369647483696474single base substitutionTCdownstream_gene_variant
ORCA-IN158369647483696474single base substitutionTCintron_variant
ORCA-IN158369879283698792single base substitutionTCintron_variant
ORCA-IN158371650583716505single base substitutionGAintron_variant
ORCA-IN158373169083731690single base substitutionCTintron_variant
OV-AU158368188183681881single base substitutionGAdownstream_gene_variant
OV-AU158368745983687459deletion of <=200bpT-downstream_gene_variant
OV-AU158368745983687459deletion of <=200bpT-frameshift_variantK430
OV-AU158368745983687459deletion of <=200bpT-splice_region_variant
OV-AU158368952983689529single base substitutionCTintron_variant
OV-AU158370020583700205single base substitutionAGintron_variant
OV-AU158370020583700205single base substitutionAGupstream_gene_variant
OV-AU158370433483704334single base substitutionATintron_variant
OV-AU158370433483704334single base substitutionATupstream_gene_variant
OV-AU158370500783705007single base substitutionCAintron_variant
OV-AU158370598383705983single base substitutionGAintron_variant
OV-AU158370598483705984single base substitutionGTintron_variant
OV-AU158372369183723691single base substitutionAGintron_variant
OV-AU158373329983733299single base substitutionCTintron_variant
OV-AU158373773283737732single base substitutionCAupstream_gene_variant
OV-AU158373949083739490single base substitutionACupstream_gene_variant
OV-US158372517983725179single base substitutionGCexon_variant
OV-US158372517983725179single base substitutionGCmissense_variantH174D520C>G
PACA-AU158368306583683065single base substitutionTCdownstream_gene_variant
PACA-AU158368362883683628single base substitutionTAdownstream_gene_variant
PACA-AU158368485583684855single base substitutionCTdownstream_gene_variant
PACA-AU158368708483687084single base substitutionAGdownstream_gene_variant
PACA-AU158368708483687084single base substitutionAGintron_variant
PACA-AU158368817883688178single base substitutionACdownstream_gene_variant
PACA-AU158368817883688178single base substitutionACintron_variant
PACA-AU158369206183692061single base substitutionAGintron_variant
PACA-AU158369448983694489deletion of <=200bpT-downstream_gene_variant
PACA-AU158369448983694489deletion of <=200bpT-intron_variant
PACA-AU158369664783696647single base substitutionTAdownstream_gene_variant
PACA-AU158369664783696647single base substitutionTAintron_variant
PACA-AU158369686983696869single base substitutionGAdownstream_gene_variant
PACA-AU158369686983696869single base substitutionGAintron_variant
PACA-AU158370439683704396single base substitutionTCintron_variant
PACA-AU158370439683704396single base substitutionTCupstream_gene_variant
PACA-AU158371113083711130single base substitutionGAintron_variant
PACA-AU158371113083711130single base substitutionGAupstream_gene_variant
PACA-AU158371263783712637single base substitutionCGintron_variant
PACA-AU158371263783712637single base substitutionCGupstream_gene_variant
PACA-AU158371298283712982single base substitutionTCintron_variant
PACA-AU158371298283712982single base substitutionTCupstream_gene_variant
PACA-AU158373407883734078deletion of <=200bpA-intron_variant
PACA-AU158373742883737428single base substitutionGAupstream_gene_variant
PACA-AU158373800883738008single base substitutionCTupstream_gene_variant
PACA-AU158373823383738233single base substitutionATupstream_gene_variant
PACA-AU158373970083739700single base substitutionCAupstream_gene_variant
PACA-AU158374072983740729insertion of <=200bp-Tupstream_gene_variant
PACA-CA158368096683680966single base substitutionAGdownstream_gene_variant
PACA-CA158368131783681317single base substitutionGAdownstream_gene_variant
PACA-CA158368432983684329single base substitutionTGdownstream_gene_variant
PACA-CA158368721083687211deletion of <=200bpTT-downstream_gene_variant
PACA-CA158368721083687211deletion of <=200bpTT-intron_variant
PACA-CA158368969383689693single base substitutionTAintron_variant
PACA-CA158369464783694647single base substitutionGCdownstream_gene_variant
PACA-CA158369464783694647single base substitutionGCintron_variant
PACA-CA158369698883696988single base substitutionCTdownstream_gene_variant
PACA-CA158369698883696988single base substitutionCTintron_variant
PACA-CA158370024383700243single base substitutionACintron_variant
PACA-CA158370024383700243single base substitutionACupstream_gene_variant
PACA-CA158370303583703035insertion of <=200bp-Aintron_variant
PACA-CA158370303583703035insertion of <=200bp-Aupstream_gene_variant
PACA-CA158370431683704316insertion of <=200bp-Gintron_variant
PACA-CA158370431683704316insertion of <=200bp-Gupstream_gene_variant
PACA-CA158370937483709374single base substitutionCAintron_variant
PACA-CA158370961683709616single base substitutionCTintron_variant
PACA-CA158371449983714499single base substitutionTAintron_variant
PACA-CA158371449983714499single base substitutionTAupstream_gene_variant
PACA-CA158371450883714528deletion of <=200bpTAAATTAAATGCAATCAATAT-intron_variant
PACA-CA158371450883714528deletion of <=200bpTAAATTAAATGCAATCAATAT-upstream_gene_variant
PACA-CA158371724483717244single base substitutionACintron_variant
PACA-CA158372081683720816single base substitutionCTintron_variant
PACA-CA158373126783731267deletion of <=200bpG-intron_variant
PACA-CA158373160683731606deletion of <=200bpC-intron_variant
PACA-CA158373315883733158single base substitutionTGintron_variant
PACA-CA158373511483735114single base substitutionAGintron_variant
PACA-CA158373579883735798single base substitutionGAmissense_variantP36S106C>T
PACA-CA158374068983740689single base substitutionGAupstream_gene_variant
PACA-CA158374093683740936single base substitutionCAupstream_gene_variant
PAEN-AU158369625883696258single base substitutionGCdownstream_gene_variant
PAEN-AU158369625883696258single base substitutionGCintron_variant
PAEN-IT158368952583689525single base substitutionGAintron_variant
PBCA-DE158369049583690497deletion of <=200bpAAT-intron_variant
PBCA-DE158369546283695462single base substitutionCTdownstream_gene_variant
PBCA-DE158369546283695462single base substitutionCTintron_variant
PBCA-DE158370873783708738deletion of <=200bpAC-intron_variant
PBCA-DE158370912983709129single base substitutionGAintron_variant
PBCA-DE158370986583709865single base substitutionCTintron_variant
PBCA-DE158371110183711102deletion of <=200bpTA-intron_variant
PBCA-DE158371110183711102deletion of <=200bpTA-upstream_gene_variant
PBCA-DE158371918383719184deletion of <=200bpTG-intron_variant
PRAD-CA158368866483688664single base substitutionAGdownstream_gene_variant
PRAD-CA158368866483688664single base substitutionAGintron_variant
PRAD-CA158369847983698479single base substitutionACexon_variant
PRAD-CA158369847983698479single base substitutionACintron_variant
PRAD-CA158370094283700942single base substitutionGAintron_variant
PRAD-CA158370094283700942single base substitutionGAupstream_gene_variant
PRAD-CA158373302683733026single base substitutionTCintron_variant
PRAD-UK158369201083692051deletion of <=200bpATTATATAATAATGCCATGAGGAACAATCCTATAGCTAAATC-intron_variant
PRAD-UK158369689183696894deletion of <=200bpAATC-downstream_gene_variant
PRAD-UK158369689183696894deletion of <=200bpAATC-intron_variant
PRAD-UK158370144983701449single base substitutionATintron_variant
PRAD-UK158370144983701449single base substitutionATupstream_gene_variant
PRAD-UK158370516683705166single base substitutionCTintron_variant
PRAD-UK158370579383705793single base substitutionTCintron_variant
PRAD-UK158372449983724499single base substitutionATintron_variant
PRAD-UK158373075283730752single base substitutionGAintron_variant
PRAD-UK158373804983738049deletion of <=200bpT-upstream_gene_variant
PRAD-UK158373984683739846single base substitutionCAupstream_gene_variant
READ-US158371063583710635single base substitutionCT3_prime_UTR_variant
READ-US158371063583710635single base substitutionCTmissense_variantR236Q707G>A
READ-US158371063583710635single base substitutionCTupstream_gene_variant
READ-US158371882783718827single base substitutionAGintron_variant
READ-US158371882783718827single base substitutionAGmissense_variantI221T662T>C
RECA-EU158368396583683965single base substitutionTAdownstream_gene_variant
RECA-EU158368396783683967single base substitutionTGdownstream_gene_variant
RECA-EU158368675683686756single base substitutionCA3_prime_UTR_variant
RECA-EU158368675683686756single base substitutionCAdownstream_gene_variant
RECA-EU158370895683708956single base substitutionCAintron_variant
RECA-EU158371335083713350single base substitutionGAintron_variant
RECA-EU158371335083713350single base substitutionGAupstream_gene_variant
RECA-EU158372115683721156single base substitutionGCintron_variant
RECA-EU158373437583734375single base substitutionTCintron_variant
SKCA-BR158368038083680380single base substitutionGAdownstream_gene_variant
SKCA-BR158368680083686800single base substitutionGT3_prime_UTR_variant
SKCA-BR158368680083686800single base substitutionGTdownstream_gene_variant
SKCA-BR158368834183688341insertion of <=200bp-CTdownstream_gene_variant
SKCA-BR158368834183688341insertion of <=200bp-CTintron_variant
SKCA-BR158368917083689170single base substitutionGAdownstream_gene_variant
SKCA-BR158368917083689170single base substitutionGAintron_variant
SKCA-BR158369049483690494insertion of <=200bp-AAATAATAATAATAATintron_variant
SKCA-BR158369069083690690single base substitutionAGintron_variant
SKCA-BR158369413283694133deletion of <=200bpAG-downstream_gene_variant
SKCA-BR158369413283694133deletion of <=200bpAG-intron_variant
SKCA-BR158369587483695874single base substitutionGTdownstream_gene_variant
SKCA-BR158369587483695874single base substitutionGTintron_variant
SKCA-BR158369749483697494single base substitutionCTdownstream_gene_variant
SKCA-BR158369749483697494single base substitutionCTintron_variant
SKCA-BR158370483183704831single base substitutionTAintron_variant
SKCA-BR158370852983708530deletion of <=200bpCA-intron_variant
SKCA-BR158370991083709911deletion of <=200bpAG-intron_variant
SKCA-BR158370991183709911single base substitutionGAintron_variant
SKCA-BR158370992083709920single base substitutionGAintron_variant
SKCA-BR158371113083711130single base substitutionGAintron_variant
SKCA-BR158371113083711130single base substitutionGAupstream_gene_variant
SKCA-BR158371113483711134single base substitutionGAintron_variant
SKCA-BR158371113483711134single base substitutionGAupstream_gene_variant
SKCA-BR158371664783716647single base substitutionGAintron_variant
SKCA-BR158371806083718060single base substitutionGAintron_variant
SKCA-BR158372291283722912single base substitutionGAintron_variant
SKCA-BR158372430183724301single base substitutionGCintron_variant
SKCA-BR158372545683725456insertion of <=200bp-TATCCintron_variant
SKCA-BR158372545683725456insertion of <=200bp-TATCCupstream_gene_variant
SKCA-BR158373314383733143single base substitutionACintron_variant
SKCA-BR158373390983733909single base substitutionAGintron_variant
SKCA-BR158373657783736577single base substitutionCTupstream_gene_variant
SKCA-BR158373779283737793deletion of <=200bpTG-upstream_gene_variant
SKCA-BR158373779483737795deletion of <=200bpAT-upstream_gene_variant
SKCA-BR158373779583737795single base substitutionTAupstream_gene_variant
SKCA-BR158373803983738040deletion of <=200bpGT-upstream_gene_variant
SKCA-BR158373804283738042single base substitutionGAupstream_gene_variant
SKCA-BR158373959183739591single base substitutionCTupstream_gene_variant
SKCA-BR158373973583739735insertion of <=200bp-CAupstream_gene_variant
SKCM-US158368026783680267single base substitutionCTdownstream_gene_variant
SKCM-US158368684783686847single base substitutionTC3_prime_UTR_variant
SKCM-US158368684783686847single base substitutionTCdownstream_gene_variant
SKCM-US158368684783686847single base substitutionTCmissense_variantQ474R1421A>G
SKCM-US158369900283699002single base substitutionCT3_prime_UTR_variant
SKCM-US158369900283699002single base substitutionCTexon_variant
SKCM-US158369900283699002single base substitutionCTmissense_variantR314Q941G>A
SKCM-US158371890483718904single base substitutionAGintron_variant
SKCM-US158371890483718904single base substitutionAGsynonymous_variantL195L585T>C
SKCM-US158371891883718918single base substitutionCTintron_variant
SKCM-US158371891883718918single base substitutionCTmissense_variantD191N571G>A
SKCM-US158372521483725214single base substitutionGAexon_variant
SKCM-US158372521483725214single base substitutionGAmissense_variantA162V485C>T
STAD-US158369889483698894single base substitutionCG3_prime_UTR_variant
STAD-US158369889483698894single base substitutionCGexon_variant
STAD-US158369889483698894single base substitutionCGmissense_variantR350P1049G>C
STAD-US158369892183698921single base substitutionCT3_prime_UTR_variant
STAD-US158369892183698921single base substitutionCTexon_variant
STAD-US158369892183698921single base substitutionCTmissense_variantR341H1022G>A
STAD-US158371064983710649single base substitutionGC3_prime_UTR_variant
STAD-US158371064983710649single base substitutionGCmissense_variantD231E693C>G
STAD-US158371064983710649single base substitutionGCupstream_gene_variant
STAD-US158372514483725147deletion of <=200bpAGTA-exon_variant
STAD-US158372514483725147deletion of <=200bpAGTA-frameshift_variantLT184
STAD-US158373577483735774single base substitutionGCmissense_variantP44A130C>G
THCA-SA158368544083685440single base substitutionAG3_prime_UTR_variant
THCA-SA158368544083685440single base substitutionAGdownstream_gene_variant
THCA-SA158368675983686759single base substitutionTC3_prime_UTR_variant
THCA-SA158368675983686759single base substitutionTCdownstream_gene_variant
UCEC-US158368023783680237single base substitutionCAdownstream_gene_variant
UCEC-US158368025283680252single base substitutionGAdownstream_gene_variant
UCEC-US158369893783698937single base substitutionGA3_prime_UTR_variant
UCEC-US158369893783698937single base substitutionGAexon_variant
UCEC-US158369893783698937single base substitutionGAstop_gainedQ336*1006C>T
UCEC-US158369900283699002single base substitutionCT3_prime_UTR_variant
UCEC-US158369900283699002single base substitutionCTexon_variant
UCEC-US158369900283699002single base substitutionCTmissense_variantR314Q941G>A
UCEC-US158372529383725293single base substitutionGTmissense_variantL136I406C>A
UCEC-US158372529383725293single base substitutionGTupstream_gene_variant
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
TCGA-E9-A1NA-01COSM1478407c.1420C>Ap.Q474KSubstitution - Missense15:83018096-83018096-
T3262COSM4666316c.1056-1G>Tp.?Unknown15:83020763-83020763-
I2L-P19Ta-Tumor-BiopsyCOSM5362924c.777G>Ap.V259VSubstitution - coding silent15:83041813-83041813-
B80-13-TumorCOSM1749350c.844A>Gp.I282VSubstitution - Missense15:83041746-83041746-
QC2-39-T2COSM5655761c.1015G>Ap.E339KSubstitution - Missense15:83030176-83030176-
sysucc-311TCOSM5478995c.963A>Gp.P321PSubstitution - coding silent15:83030228-83030228-
TCGA-A8-A08P-01COSM434433c.708A>Cp.R236RSubstitution - coding silent15:83041882-83041882-
P142COSM1736980c.518A>Gp.K173RSubstitution - Missense15:83056429-83056429-
TCGA-29-1783-01COSM1323800c.622A>Gp.M208VSubstitution - Missense15:83050115-83050115-
TCGA-AZ-4315-01COSM1374995c.1268A>Gp.Y423CSubstitution - Missense15:83018729-83018729-
ESCC_71COSM5634142c.177C>Ap.F59LSubstitution - Missense15:83066975-83066975-
SH-0622COSM5018690c.84_86delGCCp.P29delPDeletion - In frame15:83067066-83067068-
SW480COSM4655693c.1037G>Ap.G346ESubstitution - Missense15:83030154-83030154-
BK0017COSM4186039c.925G>Tp.V309FSubstitution - Missense15:83030266-83030266-
TCGA-HU-A4H4-01COSM2012751c.693C>Gp.D231ESubstitution - Missense15:83041897-83041897-
HCT8COSM4634026c.1207A>Tp.T403SSubstitution - Missense15:83018790-83018790-
TCGA-74-6578-01COSM3401962c.520C>Tp.H174YSubstitution - Missense15:83056427-83056427-
MO_1244COSM5551815c.625G>Ap.D209NSubstitution - Missense15:83050112-83050112-
CHC909TCOSM4806256c.1397A>Gp.N466SSubstitution - Missense15:83018119-83018119-
TCGA-CM-4743-01COSM1374996c.1163delAp.K388fs*28Deletion - Frameshift15:83018834-83018834-
WA40COSM238991c.505G>Ap.E169KSubstitution - Missense15:83056442-83056442-
PCSI_0090_Pa_XCOSM3377682c.106C>Tp.P36SSubstitution - Missense15:83067046-83067046-
CLL031COSM1290444c.782T>Cp.F261SSubstitution - Missense15:83041808-83041808-
TCGA-10-0930-01COSM73867c.520C>Gp.H174DSubstitution - Missense15:83056427-83056427-
ESCC_21COSM5626213c.1325A>Gp.K442RSubstitution - Missense15:83018191-83018191-
TCGA-BR-4371-01COSM4057406c.130C>Gp.P44ASubstitution - Missense15:83067022-83067022-
76629543COSM1582300c.1010A>Cp.Q337PSubstitution - Missense15:83030181-83030181-
TCGA-BS-A0UF-01COSM965812c.406C>Ap.L136ISubstitution - Missense15:83056541-83056541-
OSCC-GB_00390111COSM3711861c.1201G>Cp.D401HSubstitution - Missense15:83018796-83018796-
TCGA-EE-A2MD-06COSM3504617c.585T>Cp.L195LSubstitution - coding silent15:83050152-83050152-
TCGA-DK-A2I6-01COSM1301492c.672C>Gp.L224LSubstitution - coding silent15:83041918-83041918-
TCGA-UB-A7MB-01COSM4931585c.621A>Gp.T207TSubstitution - coding silent15:83050116-83050116-
TCGA-EI-6917-01COSM3420670c.707G>Ap.R236QSubstitution - Missense15:83041883-83041883-
TCGA-GV-A3QH-01COSM274176c.1049G>Ap.R350QSubstitution - Missense15:83030142-83030142-
TCGA-AN-A046-01COSM3816902c.711A>Cp.E237DSubstitution - Missense15:83041879-83041879-
Pat_41_BCOSM5849930c.628G>Ap.A210TSubstitution - Missense15:83050109-83050109-
TCGA-BR-4184-01COSM4057404c.1049G>Cp.R350PSubstitution - Missense15:83030142-83030142-
S00936COSM309550c.762A>Gp.R254RSubstitution - coding silent15:83041828-83041828-
39TCOSM3711861c.1201G>Cp.D401HSubstitution - Missense15:83018796-83018796-
Br27PCOSM39882c.978G>Ap.R326RSubstitution - coding silent15:83030213-83030213-
EGC15COSM4614456c.1370_1371insTp.F458fs*3Insertion - Frameshift15:83018145-83018146-
I2L-P19Ta-Tumor-OrganoidCOSM5362924c.777G>Ap.V259VSubstitution - coding silent15:83041813-83041813-
587284COSM1185011c.1094G>Ap.G365DSubstitution - Missense15:83020724-83020724-
T2269COSM4614456c.1370_1371insTp.F458fs*3Insertion - Frameshift15:83018145-83018146-
LUAD-E00443COSM363736c.649A>Tp.T217SSubstitution - Missense15:83050088-83050088-
Gp5DCOSM2012757c.511C>Tp.L171FSubstitution - Missense15:83056436-83056436-
Gp2DCOSM2012757c.511C>Tp.L171FSubstitution - Missense15:83056436-83056436-
HCA7COSM4630142c.715C>Tp.R239*Substitution - Nonsense15:83041875-83041875-
TCGA-C5-A7UH-01COSM4856836c.177C>Tp.F59FSubstitution - coding silent15:83066975-83066975-
TCGA-EE-A29L-06COSM3504618c.571G>Ap.D191NSubstitution - Missense15:83050166-83050166-
HCC169TCOSM3706769c.129A>Gp.E43ESubstitution - coding silent15:83067023-83067023-
TCGA-AO-A125-01COSM3816900c.749C>Tp.A250VSubstitution - Missense15:83041841-83041841-
HCC169COSM3706769c.129A>Gp.E43ESubstitution - coding silent15:83067023-83067023-
pfg008TCOSM1640365c.1370delTp.F457fs*14Deletion - Frameshift15:83018146-83018146-
TCGA-EE-A2GJ-06COSM965811c.941G>Ap.R314QSubstitution - Missense15:83030250-83030250-
TCGA-D3-A3C7-06COSM3504619c.485C>Tp.A162VSubstitution - Missense15:83056462-83056462-
TCGA-AA-A00N-01COSM274176c.1049G>Ap.R350QSubstitution - Missense15:83030142-83030142-
TCGA-BC-A10Z-01COSM4936240c.1196G>Ap.S399NSubstitution - Missense15:83018801-83018801-
COLO678COSM2012742c.1045G>Tp.D349YSubstitution - Missense15:83030146-83030146-
TCGA-DI-A0WH-01COSM965810c.1006C>Tp.Q336*Substitution - Nonsense15:83030185-83030185-
LS411COSM4614456c.1370_1371insTp.F458fs*3Insertion - Frameshift15:83018145-83018146-
TCGA-AO-A125-01COSM3816901c.748G>Ap.A250TSubstitution - Missense15:83041842-83041842-
TCGA-EI-6510-01COSM1563323c.662T>Cp.I221TSubstitution - Missense15:83050075-83050075-
TCGA-B5-A11Y-01COSM965811c.941G>Ap.R314QSubstitution - Missense15:83030250-83030250-
ESCC-015TCOSM3936878c.1146C>Gp.I382MSubstitution - Missense15:83018851-83018851-
TCGA-FS-A4F5-06COSM3504616c.1421A>Gp.Q474RSubstitution - Missense15:83018095-83018095-
CHC909TCOSM4806256c.1397A>Gp.N466SSubstitution - Missense15:83018119-83018119-
TCGA-BR-8680-01COSM4057405c.1022G>Ap.R341HSubstitution - Missense15:83030169-83030169-
TCGA-A8-A07L-01COSM434432c.1195A>Cp.S399RSubstitution - Missense15:83018802-83018802-
MO_1124COSM5553311c.1015G>Cp.E339QSubstitution - Missense15:83030176-83030176-
TCGA-G3-A5SL-01COSM4929668c.951C>Ap.Y317*Substitution - Nonsense15:83030240-83030240-
B80-13COSM1749350c.844A>Gp.I282VSubstitution - Missense15:83041746-83041746-
TCGA-BR-8487-01COSM2012751c.693C>Gp.D231ESubstitution - Missense15:83041897-83041897-
pfg008TCOSM1640365c.1370delTp.F457fs*14Deletion - Frameshift15:83018146-83018146-
TCGA-GV-A3QH-01COSM1301493c.68C>Tp.A23VSubstitution - Missense15:83067084-83067084-
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.459129;Hs.459132;Hs.459142;Hs.45914915q24608530
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
AA-Frameshiftp.C199Sfs*19c.594_595delTT1583718894LGG
AC-IntronicDeletion.c.559-83_559-82delGT1583719012ESCA
A-Frameshiftp.F457Sfs*14c.1370delT1583686898STAD
AG3-UTRSNV.c.1446+14T>C1583686808CLL
AGMissensep.F261Sc.782T>C1583710560CLL
AGSynonymousp.L195Lc.585T>C1583718904CM
AGSynonymousp.S238Sc.714T>C1583710628HNSC
ATMissensep.I219Nc.656T>A1583718833HNSC
CTMissensep.D191Nc.571G>A1583718918CM
CTMissensep.R314Qc.941G>A1583699002CM
CTMissensep.R314Qc.941G>A1583699002UCEC
CTMissensep.R350Qc.1049G>A1583698894BLCA
CTTA-IntronicDeletion.c.1290+2_1290+5delTAAG1583687454LGG
GAMissensep.A162Vc.485C>T1583725214CM
GAMissensep.A23Vc.68C>T1583735836BLCA
GAMissensep.H174Yc.520C>T1583725179GBM
GAMissensep.S54Lc.161C>T1583735743STAD
GANonsensep.Q336*c.1006C>T1583698937UCEC
GANonsensep.R350*c.1048C>T1583698895HNSC
GASynonymousp.F407Fc.1221C>T1583687528HNSC
GASynonymousp.R326Rc.978G>A1583698965GBM
GASynonymousp.Y344Yc.1032C>T1583698911STAD
GCMissensep.H174Dc.520C>G1583725179OV
GCMissensep.P44Ac.130C>G1583735774STAD
GCSynonymousp.L224Lc.672C>G1583710670BLCA
GTMissensep.Q474Kc.1420C>A1583686848BRCA
TAMissensep.I235Fc.703A>T1583710639COREAD
TC3-UTRSNV.c.1446+1468A>G1583685354HC
TCSynonymousp.R254Rc.762A>G1583710580SCLC
TGMissensep.S399Rc.1195A>C1583687554BRCA
TGSynonymousp.R236Rc.708A>C1583710634BRCA