USP50
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
BRCA155083101850831018+Missense_MutationSNPCCTTCGA-A8-A09Z-01A-11W-A019-09TCGA-A8-A09Z-10A-01W-A021-09g.chr15:50831018C>Tc.691G>Ac.(691-693)Gca>Acap.A231T
CESC155083342450833424+Missense_MutationSNPGGCTCGA-JW-A5VL-01A-11D-A28B-09TCGA-JW-A5VL-10A-01D-A28E-09g.chr15:50833424G>Cc.482C>Gc.(481-483)tCt>tGtp.S161C
COAD155079300750793007+3'UTRSNPGGTTCGA-F4-6570-01A-11D-1771-10TCGA-F4-6570-10A-01D-1771-10g.chr15:50793007G>T
COAD155083101850831018+Missense_MutationSNPCCTTCGA-AA-A01R-01A-21W-A096-10TCGA-AA-A01R-11A-12W-A096-10g.chr15:50831018C>Tc.691G>Ac.(691-693)Gca>Acap.A231T
COAD155083585250835852+Missense_MutationSNPTTGTCGA-AA-3930-01A-01W-0995-10TCGA-AA-3930-10A-01W-0995-10g.chr15:50835852T>Gc.387A>Cc.(385-387)caA>caCp.Q129H
COAD155083690450836904+Missense_MutationSNPAACTCGA-AZ-4315-01A-01D-1408-10TCGA-AZ-4315-10A-01D-1408-10g.chr15:50836904A>Cc.128T>Gc.(127-129)gTc>gGcp.V43G
COADREAD155079300750793007+3'UTRSNPGGTTCGA-F4-6570-01A-11D-1771-10TCGA-F4-6570-10A-01D-1771-10g.chr15:50793007G>T
COADREAD155083100050831000+Missense_MutationSNPCCTTCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr15:50831000C>Tc.709G>Ac.(709-711)Gaa>Aaap.E237K
COADREAD155083101850831018+Missense_MutationSNPCCTTCGA-AA-A01R-01A-21W-A096-10TCGA-AA-A01R-11A-12W-A096-10g.chr15:50831018C>Tc.691G>Ac.(691-693)Gca>Acap.A231T
COADREAD155083585250835852+Missense_MutationSNPTTGTCGA-AA-3930-01A-01W-0995-10TCGA-AA-3930-10A-01W-0995-10g.chr15:50835852T>Gc.387A>Cc.(385-387)caA>caCp.Q129H
COADREAD155083586750835867+SilentSNPCCTTCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr15:50835867C>Tc.372G>Ac.(370-372)acG>acAp.T124T
COADREAD155083690450836904+Missense_MutationSNPAACTCGA-AZ-4315-01A-01D-1408-10TCGA-AZ-4315-10A-01D-1408-10g.chr15:50836904A>Cc.128T>Gc.(127-129)gTc>gGcp.V43G
DLBC155083684650836846+SilentSNPGGCTCGA-G8-6324-01A-11D-2210-10TCGA-G8-6324-10A-01D-2210-10g.chr15:50836846G>Cc.186C>Gc.(184-186)ctC>ctGp.L62L
ESCA155079296850792968+3'UTRSNPAAGTCGA-VR-AA4G-01A-11D-A37C-09TCGA-VR-AA4G-10A-01D-A37F-09g.chr15:50792968A>G
ESCA155079299350792993+3'UTRSNPGGATCGA-IG-A3Y9-01A-12D-A247-09TCGA-IG-A3Y9-10A-01D-A247-09g.chr15:50792993G>A
ESCA155079301750793017+3'UTRSNPCCTTCGA-L5-A8NS-01A-12D-A37C-09TCGA-L5-A8NS-11A-11D-A37F-09g.chr15:50793017C>T
GBM155083870850838708+SilentSNPCCTTCGA-06-0192-01B-01W-0348-08TCGA-06-0192-10A-01W-0348-08g.chr15:50838708C>Tc.15G>Ac.(13-15)ccG>ccAp.P5P
GBMLGG155083870850838708+SilentSNPCCTTCGA-06-0192-01B-01W-0348-08TCGA-06-0192-10A-01W-0348-08g.chr15:50838708C>Tc.15G>Ac.(13-15)ccG>ccAp.P5P
HNSC155083091750830917+SilentSNPGGATCGA-BA-5152-01A-02D-1870-08TCGA-BA-5152-10A-01D-1870-08g.chr15:50830917G>Ac.792C>Tc.(790-792)ttC>ttTp.F264F
KIPAN155083326250833262+Missense_MutationSNPTTCTCGA-B0-5098-01A-01D-1421-08TCGA-B0-5098-11A-01D-1421-08g.chr15:50833262T>Cc.644A>Gc.(643-645)tAt>tGtp.Y215C
KIPAN155083330350833303+SilentSNPGGATCGA-B0-5116-01A-02D-1421-08TCGA-B0-5116-11A-01D-1421-08g.chr15:50833303G>Ac.603C>Tc.(601-603)aaC>aaTp.N201N
KIPAN155083579850835798+Missense_MutationSNPTTATCGA-CJ-4899-01A-01D-1462-08TCGA-CJ-4899-11A-01D-1462-08g.chr15:50835798T>Ac.441A>Tc.(439-441)aaA>aaTp.K147N
KIRC155083326250833262+Missense_MutationSNPTTCTCGA-B0-5098-01A-01D-1421-08TCGA-B0-5098-11A-01D-1421-08g.chr15:50833262T>Cc.644A>Gc.(643-645)tAt>tGtp.Y215C
KIRC155083330350833303+SilentSNPGGATCGA-B0-5116-01A-02D-1421-08TCGA-B0-5116-11A-01D-1421-08g.chr15:50833303G>Ac.603C>Tc.(601-603)aaC>aaTp.N201N
KIRC155083579850835798+Missense_MutationSNPTTATCGA-CJ-4899-01A-01D-1462-08TCGA-CJ-4899-11A-01D-1462-08g.chr15:50835798T>Ac.441A>Tc.(439-441)aaA>aaTp.K147N
LIHC155082203550822035+Missense_MutationSNPTTCTCGA-ED-A8O6-01A-11D-A35Z-10TCGA-ED-A8O6-10A-01D-A35Z-10g.chr15:50822035T>Cc.895A>Gc.(895-897)Att>Gttp.I299V
LIHC155083328450833284+Missense_MutationSNPAAGTCGA-DD-A1ED-01A-11D-A152-10TCGA-DD-A1ED-10A-01D-A152-10g.chr15:50833284A>Gc.622T>Cc.(622-624)Tca>Ccap.S208P
LIHC155083332250833322+Missense_MutationSNPTTCTCGA-DD-A3A1-01A-11D-A20W-10TCGA-DD-A3A1-11A-11D-A20W-10g.chr15:50833322T>Cc.584A>Gc.(583-585)gAg>gGgp.E195G
LUAD155083684250836842+Missense_MutationSNPTTCTCGA-17-Z011-01A-01W-0746-08TCGA-17-Z011-11A-01W-0746-08g.chr15:50836842T>Cc.190A>Gc.(190-192)Agc>Ggcp.S64G
LUSC155082202950822029+Missense_MutationSNPGGATCGA-22-1016-01A-01D-1521-08TCGA-22-1016-11A-01D-1521-08g.chr15:50822029G>Ac.901C>Tc.(901-903)Cgg>Tggp.R301W
LUSC155083343450833434+Missense_MutationSNPCCTTCGA-22-5482-01A-01D-1632-08TCGA-22-5482-11A-01D-1632-08g.chr15:50833434C>Tc.472G>Ac.(472-474)Gag>Aagp.E158K
PAAD155082208850822088+Missense_MutationSNPGGATCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr15:50822088G>Ac.842C>Tc.(841-843)aCg>aTgp.T281M
PRAD155083342650833426+SilentSNPTTCTCGA-EJ-7793-01A-31D-2260-08TCGA-EJ-7793-10A-01D-2260-08g.chr15:50833426T>Cc.480A>Gc.(478-480)ggA>ggGp.G160G
READ155083100050831000+Missense_MutationSNPCCTTCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr15:50831000C>Tc.709G>Ac.(709-711)Gaa>Aaap.E237K
READ155083586750835867+SilentSNPCCTTCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr15:50835867C>Tc.372G>Ac.(370-372)acG>acAp.T124T
SARC155083587650835876+SilentSNPTTGTCGA-KF-A41W-01A-11D-A24N-09TCGA-KF-A41W-11A-11D-A24N-09g.chr15:50835876T>Gc.363A>Cc.(361-363)ccA>ccCp.P121P
SKCM155083098750830987+Missense_MutationSNPGGATCGA-FS-A1ZQ-06A-11D-A197-08TCGA-FS-A1ZQ-10A-01D-A199-08g.chr15:50830987G>Ac.722C>Tc.(721-723)tCc>tTcp.S241F
SKCM155083325250833252+SilentSNPGGATCGA-EE-A29S-06A-11D-A197-08TCGA-EE-A29S-10A-01D-A199-08g.chr15:50833252G>Ac.654C>Tc.(652-654)tcC>tcTp.S218S
SKCM155083330250833302+Missense_MutationSNPCCTTCGA-FW-A3R5-06A-11D-A23B-08TCGA-FW-A3R5-10A-01D-A23B-08g.chr15:50833302C>Tc.604G>Ac.(604-606)Gaa>Aaap.E202K
SKCM155083340650833406+Missense_MutationSNPCCGTCGA-ER-A19P-06A-11D-A196-08TCGA-ER-A19P-10A-01D-A198-08g.chr15:50833406C>Gc.500G>Cc.(499-501)aGg>aCgp.R167T
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BRCA-EU155078775950787759single base substitutionAGdownstream_gene_variant
BRCA-EU155078871450788714single base substitutionCTdownstream_gene_variant
BRCA-EU155078993250789932single base substitutionCTdownstream_gene_variant
BRCA-EU155079370750793707single base substitutionTCintron_variant
BRCA-EU155079436750794367single base substitutionCAintron_variant
BRCA-EU155079575650795756single base substitutionCTintron_variant
BRCA-EU155079717250797172single base substitutionCTintron_variant
BRCA-EU155079895550798955single base substitutionGAintron_variant
BRCA-EU155080155950801559single base substitutionGAdownstream_gene_variant
BRCA-EU155080155950801559single base substitutionGAintron_variant
BRCA-EU155080189050801890single base substitutionCTdownstream_gene_variant
BRCA-EU155080189050801890single base substitutionCTintron_variant
BRCA-EU155080193150801931deletion of <=200bpC-downstream_gene_variant
BRCA-EU155080193150801931deletion of <=200bpC-intron_variant
BRCA-EU155080311550803115single base substitutionACdownstream_gene_variant
BRCA-EU155080311550803115single base substitutionACintron_variant
BRCA-EU155080330950803309single base substitutionGCdownstream_gene_variant
BRCA-EU155080330950803309single base substitutionGCintron_variant
BRCA-EU155080339650803396single base substitutionAGdownstream_gene_variant
BRCA-EU155080339650803396single base substitutionAGintron_variant
BRCA-EU155080366050803660single base substitutionCTdownstream_gene_variant
BRCA-EU155080366050803660single base substitutionCTintron_variant
BRCA-EU155080366150803661single base substitutionTCdownstream_gene_variant
BRCA-EU155080366150803661single base substitutionTCintron_variant
BRCA-EU155080398050803980single base substitutionCTdownstream_gene_variant
BRCA-EU155080398050803980single base substitutionCTintron_variant
BRCA-EU155080442650804426single base substitutionGAdownstream_gene_variant
BRCA-EU155080442650804426single base substitutionGAintron_variant
BRCA-EU155080480850804808single base substitutionGAdownstream_gene_variant
BRCA-EU155080480850804808single base substitutionGAintron_variant
BRCA-EU155080482950804829single base substitutionAGdownstream_gene_variant
BRCA-EU155080482950804829single base substitutionAGintron_variant
BRCA-EU155080638850806388single base substitutionCTintron_variant
BRCA-EU155080684050806840single base substitutionCAintron_variant
BRCA-EU155080706050807060single base substitutionGAintron_variant
BRCA-EU155080779450807794single base substitutionACintron_variant
BRCA-EU155080849650808499deletion of <=200bpAAAC-intron_variant
BRCA-EU155080989350809893single base substitutionTAintron_variant
BRCA-EU155081063150810631single base substitutionAGintron_variant
BRCA-EU155081130350811303single base substitutionGAintron_variant
BRCA-EU155081176950811769single base substitutionGAintron_variant
BRCA-EU155081229050812290single base substitutionGAintron_variant
BRCA-EU155081281350812813single base substitutionCTintron_variant
BRCA-EU155081283250812832single base substitutionGCintron_variant
BRCA-EU155081455350814553single base substitutionACintron_variant
BRCA-EU155081522950815229single base substitutionGTintron_variant
BRCA-EU155081541850815418single base substitutionCGintron_variant
BRCA-EU155081555450815554single base substitutionGCintron_variant
BRCA-EU155081670150816701single base substitutionCTintron_variant
BRCA-EU155081811250818112single base substitutionGCintron_variant
BRCA-EU155081907850819078single base substitutionCTintron_variant
BRCA-EU155081959950819599single base substitutionTAintron_variant
BRCA-EU155082020350820203single base substitutionCGintron_variant
BRCA-EU155082208750822087single base substitutionCT3_prime_UTR_variant
BRCA-EU155082208750822087single base substitutionCTexon_variant
BRCA-EU155082208750822087single base substitutionCTsynonymous_variantT281T843G>A
BRCA-EU155082314350823143insertion of <=200bp-Tintron_variant
BRCA-EU155082464450824644single base substitutionCTintron_variant
BRCA-EU155082578050825780insertion of <=200bp-Aintron_variant
BRCA-EU155082798950827989single base substitutionTGintron_variant
BRCA-EU155082806650828066deletion of <=200bpA-intron_variant
BRCA-EU155082878650828786single base substitutionCTintron_variant
BRCA-EU155082990650829906single base substitutionATintron_variant
BRCA-EU155083086550830865single base substitutionTGintron_variant
BRCA-EU155083278050832780deletion of <=200bpA-intron_variant
BRCA-EU155083278050832780deletion of <=200bpA-upstream_gene_variant
BRCA-EU155083295850832958single base substitutionTCintron_variant
BRCA-EU155083295850832958single base substitutionTCupstream_gene_variant
BRCA-EU155083354650833546insertion of <=200bp-Aintron_variant
BRCA-EU155083354650833546insertion of <=200bp-Aupstream_gene_variant
BRCA-EU155083371150833711deletion of <=200bpA-intron_variant
BRCA-EU155083371150833711deletion of <=200bpA-upstream_gene_variant
BRCA-EU155083449050834490single base substitutionTGintron_variant
BRCA-EU155083449050834490single base substitutionTGupstream_gene_variant
BRCA-EU155083507350835073single base substitutionGAintron_variant
BRCA-EU155083507350835073single base substitutionGAupstream_gene_variant
BRCA-EU155083967250839672single base substitutionCTupstream_gene_variant
BRCA-EU155084025250840252single base substitutionCAupstream_gene_variant
BRCA-EU155084232450842324single base substitutionCAupstream_gene_variant
BRCA-EU155084248750842487deletion of <=200bpG-upstream_gene_variant
BRCA-EU155084253550842535single base substitutionCGupstream_gene_variant
BRCA-EU155084353050843530single base substitutionCGupstream_gene_variant
BRCA-FR155079433950794339single base substitutionCTintron_variant
BRCA-FR155079895550798955single base substitutionGAintron_variant
BRCA-FR155080442650804426single base substitutionGAdownstream_gene_variant
BRCA-FR155080442650804426single base substitutionGAintron_variant
BRCA-FR155080480850804808single base substitutionGAdownstream_gene_variant
BRCA-FR155080480850804808single base substitutionGAintron_variant
BRCA-FR155080745750807457single base substitutionGCintron_variant
BRCA-FR155081283250812832single base substitutionGCintron_variant
BRCA-FR155081907850819078single base substitutionCTintron_variant
BRCA-FR155083182150831821single base substitutionCTintron_variant
BRCA-FR155083182150831821single base substitutionCTupstream_gene_variant
BRCA-FR155083238850832388single base substitutionGTintron_variant
BRCA-FR155083238850832388single base substitutionGTupstream_gene_variant
BRCA-UK155081888750818887single base substitutionCGintron_variant
BRCA-US155083101850831018single base substitutionCT3_prime_UTR_variant
BRCA-US155083101850831018single base substitutionCTexon_variant
BRCA-US155083101850831018single base substitutionCTmissense_variantA231T691G>A
BTCA-JP155078811650788116single base substitutionCAdownstream_gene_variant
BTCA-JP155083688850836888single base substitutionGCintron_variant
BTCA-JP155083688850836888single base substitutionGCmissense_variantN48K144C>G
CESC-US155078805250788052single base substitutionACdownstream_gene_variant
CESC-US155078924850789248single base substitutionGAdownstream_gene_variant
CESC-US155083342450833424single base substitutionGCexon_variant
CESC-US155083342450833424single base substitutionGCintron_variant
CESC-US155083342450833424single base substitutionGCmissense_variantS161C482C>G
CESC-US155083342450833424single base substitutionGCupstream_gene_variant
CLLE-ES155079674450796744single base substitutionGAintron_variant
CLLE-ES155079917850799178single base substitutionATintron_variant
CLLE-ES155080571750805717single base substitutionAGintron_variant
CLLE-ES155081785350817853deletion of <=200bpG-intron_variant
CLLE-ES155082536050825360single base substitutionATintron_variant
CLLE-ES155082546150825461single base substitutionAGintron_variant
CLLE-ES155082551150825511single base substitutionGAintron_variant
CLLE-ES155084248550842485single base substitutionTGupstream_gene_variant
CLLE-ES155084388450843884single base substitutionTAupstream_gene_variant
COAD-US155078932250789322single base substitutionACdownstream_gene_variant
COAD-US155078937550789375deletion of <=200bpA-downstream_gene_variant
COAD-US155079300750793007single base substitutionGT3_prime_UTR_variant
COAD-US155079300750793007single base substitutionGTdownstream_gene_variant
COAD-US155079300750793007single base substitutionGTmissense_variantH322N964C>A
COCA-CN155079308950793089single base substitutionGAexon_variant
COCA-CN155079308950793089single base substitutionGAintron_variant
COCA-CN155080009550800095single base substitutionGAintron_variant
COCA-CN155080500550805005single base substitutionAGdownstream_gene_variant
COCA-CN155080500550805005single base substitutionAGintron_variant
COCA-CN155082447850824478single base substitutionCTintron_variant
COCA-CN155083096750830967single base substitutionCA3_prime_UTR_variant
COCA-CN155083096750830967single base substitutionCAexon_variant
COCA-CN155083096750830967single base substitutionCAstop_gainedE248*742G>T
COCA-CN155083878350838783single base substitutionTG5_prime_UTR_variant
COCA-CN155083878350838783single base substitutionTGexon_variant
EOPC-DE155082246650822466single base substitutionTCintron_variant
EOPC-DE155083004350830043single base substitutionAGintron_variant
ESAD-UK155078958750789587single base substitutionTCdownstream_gene_variant
ESAD-UK155078972150789721single base substitutionTGdownstream_gene_variant
ESAD-UK155079552050795520single base substitutionCTintron_variant
ESAD-UK155080022150800221single base substitutionGAintron_variant
ESAD-UK155080061150800611single base substitutionCTdownstream_gene_variant
ESAD-UK155080061150800611single base substitutionCTintron_variant
ESAD-UK155080265550802655insertion of <=200bp-Adownstream_gene_variant
ESAD-UK155080265550802655insertion of <=200bp-Aintron_variant
ESAD-UK155080268150802681single base substitutionCAdownstream_gene_variant
ESAD-UK155080268150802681single base substitutionCAintron_variant
ESAD-UK155080336150803361single base substitutionTGdownstream_gene_variant
ESAD-UK155080336150803361single base substitutionTGintron_variant
ESAD-UK155080540450805404single base substitutionACdownstream_gene_variant
ESAD-UK155080540450805404single base substitutionACintron_variant
ESAD-UK155080551450805514single base substitutionATdownstream_gene_variant
ESAD-UK155080551450805514single base substitutionATintron_variant
ESAD-UK155080693350806933single base substitutionGTintron_variant
ESAD-UK155080718350807183insertion of <=200bp-ACACintron_variant
ESAD-UK155080754050807540single base substitutionGAintron_variant
ESAD-UK155080821750808217single base substitutionGCintron_variant
ESAD-UK155080853650808536single base substitutionCTintron_variant
ESAD-UK155081282350812823deletion of <=200bpA-intron_variant
ESAD-UK155081433650814336single base substitutionGAintron_variant
ESAD-UK155081632350816323single base substitutionAGintron_variant
ESAD-UK155081671150816711single base substitutionAGintron_variant
ESAD-UK155081760950817609deletion of <=200bpA-intron_variant
ESAD-UK155081938750819387single base substitutionGAintron_variant
ESAD-UK155082361750823617single base substitutionAGintron_variant
ESAD-UK155082387150823871single base substitutionGCintron_variant
ESAD-UK155082415850824158deletion of <=200bpC-intron_variant
ESAD-UK155082471350824713single base substitutionCTintron_variant
ESAD-UK155082567550825675deletion of <=200bpA-intron_variant
ESAD-UK155082567550825675single base substitutionAGintron_variant
ESAD-UK155082586250825862single base substitutionACintron_variant
ESAD-UK155082794850827948insertion of <=200bp-Aintron_variant
ESAD-UK155082801950828019single base substitutionCGintron_variant
ESAD-UK155082933350829333single base substitutionACintron_variant
ESAD-UK155082954350829543single base substitutionTCintron_variant
ESAD-UK155082983650829836single base substitutionGAintron_variant
ESAD-UK155083131550831315single base substitutionTGintron_variant
ESAD-UK155083131550831315single base substitutionTGupstream_gene_variant
ESAD-UK155083313150833131single base substitutionTAintron_variant
ESAD-UK155083313150833131single base substitutionTAupstream_gene_variant
ESAD-UK155083315550833155single base substitutionCGintron_variant
ESAD-UK155083315550833155single base substitutionCGupstream_gene_variant
ESAD-UK155083835150838351single base substitutionGAintron_variant
ESAD-UK155083845250838452single base substitutionCGintron_variant
ESAD-UK155083873350838733single base substitutionCT5_prime_UTR_variant
ESAD-UK155083873350838733single base substitutionCTexon_variant
ESAD-UK155083943850839438single base substitutionTAupstream_gene_variant
ESAD-UK155084144350841443single base substitutionGAupstream_gene_variant
ESAD-UK155084324150843241single base substitutionGTupstream_gene_variant
ESAD-UK155084364250843642single base substitutionCTupstream_gene_variant
GBM-US155078809850788098single base substitutionTCdownstream_gene_variant
GBM-US155083870850838708single base substitutionCTexon_variant
GBM-US155083870850838708single base substitutionCTsynonymous_variantP5P15G>A
KIRC-US155079110550791105single base substitutionCGdownstream_gene_variant
KIRC-US155083330350833303single base substitutionGA3_prime_UTR_variant
KIRC-US155083330350833303single base substitutionGAintron_variant
KIRC-US155083330350833303single base substitutionGAsynonymous_variantN201N603C>T
KIRC-US155083330350833303single base substitutionGAupstream_gene_variant
KIRC-US155083579850835798single base substitutionTAintron_variant
KIRC-US155083579850835798single base substitutionTAmissense_variantK147N441A>T
KIRC-US155083579850835798single base substitutionTAupstream_gene_variant
KIRP-US155083596050835960single base substitutionGAintron_variant
KIRP-US155083596050835960single base substitutionGAsynonymous_variantA93A279C>T
KIRP-US155083596050835960single base substitutionGAupstream_gene_variant
LAML-KR155081043650810436single base substitutionGTintron_variant
LAML-KR155081125850811258single base substitutionCTintron_variant
LAML-KR155082227750822277single base substitutionAGintron_variant
LICA-CN155083099050830990single base substitutionCA3_prime_UTR_variant
LICA-CN155083099050830990single base substitutionCAexon_variant
LICA-CN155083099050830990single base substitutionCAmissense_variantC240F719G>T
LICA-FR155079303350793033deletion of <=200bpT-downstream_gene_variant
LICA-FR155079303350793033deletion of <=200bpT-frameshift_variantN313
LICA-FR155079303350793033deletion of <=200bpT-splice_region_variant
LICA-FR155081377450813774single base substitutionAGintron_variant
LICA-FR155081775350817753single base substitutionGAintron_variant
LICA-FR155081775950817759single base substitutionAGintron_variant
LICA-FR155082026350820267deletion of <=200bpTTTTT-intron_variant
LICA-FR155082874550828745single base substitutionGAintron_variant
LICA-FR155083580150835801single base substitutionTCintron_variant
LICA-FR155083580150835801single base substitutionTCsynonymous_variantL146L438A>G
LICA-FR155083580150835801single base substitutionTCupstream_gene_variant
LICA-FR155084251950842519single base substitutionTCupstream_gene_variant
LICA-FR155084314550843145single base substitutionGCupstream_gene_variant
LINC-JP155079097650790976single base substitutionAGdownstream_gene_variant
LINC-JP155080283050802830single base substitutionACdownstream_gene_variant
LINC-JP155080283050802830single base substitutionACintron_variant
LINC-JP155080399350803993single base substitutionATdownstream_gene_variant
LINC-JP155080399350803993single base substitutionATintron_variant
LINC-JP155082026350820268deletion of <=200bpTTTTTT-intron_variant
LINC-JP155083050850830508single base substitutionGAintron_variant
LINC-JP155083352650833526single base substitutionTCintron_variant
LINC-JP155083352650833526single base substitutionTCupstream_gene_variant
LINC-JP155083689450836894single base substitutionCAintron_variant
LINC-JP155083689450836894single base substitutionCAmissense_variantL46F138G>T
LINC-JP155083993250839932single base substitutionCAupstream_gene_variant
LINC-JP155084040350840403single base substitutionAGupstream_gene_variant
LINC-JP155084349850843498single base substitutionAGupstream_gene_variant
LIRI-JP155079176150791761single base substitutionTGdownstream_gene_variant
LIRI-JP155079335650793373deletion of <=200bpACAATAAGAAGATAATTC-intron_variant
LIRI-JP155079373450793734single base substitutionAGintron_variant
LIRI-JP155079407250794072single base substitutionAGintron_variant
LIRI-JP155079780450797804single base substitutionAGintron_variant
LIRI-JP155079952450799524single base substitutionAGintron_variant
LIRI-JP155080621250806212single base substitutionACintron_variant
LIRI-JP155080735450807354single base substitutionAGintron_variant
LIRI-JP155081022650810226single base substitutionTCintron_variant
LIRI-JP155081286750812867single base substitutionTAintron_variant
LIRI-JP155082038450820384single base substitutionGAintron_variant
LIRI-JP155082241450822414single base substitutionACintron_variant
LIRI-JP155082373150823731single base substitutionGTintron_variant
LIRI-JP155083122550831225single base substitutionCTintron_variant
LIRI-JP155083122550831225single base substitutionCTupstream_gene_variant
LIRI-JP155083251050832510single base substitutionTGintron_variant
LIRI-JP155083251050832510single base substitutionTGupstream_gene_variant
LIRI-JP155083298550832985single base substitutionTCintron_variant
LIRI-JP155083298550832985single base substitutionTCupstream_gene_variant
LIRI-JP155083496650834966single base substitutionGAintron_variant
LIRI-JP155083496650834966single base substitutionGAupstream_gene_variant
LIRI-JP155083529150835291single base substitutionGCintron_variant
LIRI-JP155083529150835291single base substitutionGCupstream_gene_variant
LIRI-JP155083643050836430single base substitutionGAintron_variant
LIRI-JP155083688650836886insertion of <=200bp-Aframeshift_variantL49F?
LIRI-JP155083688650836886insertion of <=200bp-Aintron_variant
LIRI-JP155083752350837523single base substitutionGAintron_variant
LIRI-JP155083846050838460single base substitutionTCintron_variant
LIRI-JP155083871050838710single base substitutionGTexon_variant
LIRI-JP155083871050838710single base substitutionGTmissense_variantP5T13C>A
LIRI-JP155083883950838840deletion of <=200bpCT-5_prime_UTR_variant
LIRI-JP155083883950838840deletion of <=200bpCT-exon_variant
LIRI-JP155084319950843199single base substitutionGAupstream_gene_variant
LUSC-KR155080102350801023single base substitutionCAdownstream_gene_variant
LUSC-KR155080102350801023single base substitutionCAintron_variant
LUSC-KR155081070250810702single base substitutionCTintron_variant
LUSC-KR155081282050812820single base substitutionGAintron_variant
LUSC-KR155081286350812863single base substitutionCTintron_variant
LUSC-KR155081356750813567single base substitutionTGintron_variant
LUSC-KR155082081550820815single base substitutionCAintron_variant
LUSC-KR155082497950824979single base substitutionGAintron_variant
LUSC-KR155083594750835947single base substitutionCTintron_variant
LUSC-KR155083594750835947single base substitutionCTmissense_variantD98N292G>A
LUSC-KR155083594750835947single base substitutionCTupstream_gene_variant
LUSC-KR155083603550836035single base substitutionGCintron_variant
LUSC-KR155084200050842000single base substitutionAGupstream_gene_variant
LUSC-US155082202950822029single base substitutionGA3_prime_UTR_variant
LUSC-US155082202950822029single base substitutionGAexon_variant
LUSC-US155082202950822029single base substitutionGAmissense_variantR301W901C>T
LUSC-US155083343450833434single base substitutionCTexon_variant
LUSC-US155083343450833434single base substitutionCTintron_variant
LUSC-US155083343450833434single base substitutionCTmissense_variantE158K472G>A
LUSC-US155083343450833434single base substitutionCTupstream_gene_variant
MALY-DE155080101550801015single base substitutionCAdownstream_gene_variant
MALY-DE155080101550801015single base substitutionCAintron_variant
MALY-DE155080295550802955single base substitutionAGdownstream_gene_variant
MALY-DE155080295550802955single base substitutionAGintron_variant
MALY-DE155080394350803943single base substitutionCTdownstream_gene_variant
MALY-DE155080394350803943single base substitutionCTintron_variant
MALY-DE155080658550806585single base substitutionACintron_variant
MALY-DE155080785050807851deletion of <=200bpTA-intron_variant
MALY-DE155081145650811456single base substitutionCGintron_variant
MALY-DE155081173850811738single base substitutionCTintron_variant
MALY-DE155081173950811739single base substitutionGAintron_variant
MALY-DE155081186250811862single base substitutionAGintron_variant
MALY-DE155081370350813703single base substitutionGAintron_variant
MALY-DE155081773550817735single base substitutionGAintron_variant
MALY-DE155081780350817803single base substitutionGAintron_variant
MALY-DE155081780550817805single base substitutionAGintron_variant
MALY-DE155081783150817831single base substitutionAGintron_variant
MALY-DE155081783350817833single base substitutionGAintron_variant
MALY-DE155081784150817841single base substitutionGAintron_variant
MALY-DE155081956950819569insertion of <=200bp-Tintron_variant
MALY-DE155082567550825675deletion of <=200bpA-intron_variant
MALY-DE155082795550827955single base substitutionTAintron_variant
MALY-DE155083789250837893deletion of <=200bpAC-intron_variant
MALY-DE155083909150839091single base substitutionCGupstream_gene_variant
MALY-DE155084048850840488single base substitutionGAupstream_gene_variant
MALY-DE155084247550842475single base substitutionTCupstream_gene_variant
MELA-AU155078783450787834single base substitutionCTdownstream_gene_variant
MELA-AU155078905650789056single base substitutionCTdownstream_gene_variant
MELA-AU155078911650789116single base substitutionCTdownstream_gene_variant
MELA-AU155078989550789895single base substitutionCTdownstream_gene_variant
MELA-AU155079031750790317single base substitutionCTdownstream_gene_variant
MELA-AU155079065750790657single base substitutionCTdownstream_gene_variant
MELA-AU155079068350790683single base substitutionTGdownstream_gene_variant
MELA-AU155079092450790924single base substitutionCTdownstream_gene_variant
MELA-AU155079149150791491single base substitutionATdownstream_gene_variant
MELA-AU155079149950791499single base substitutionCGdownstream_gene_variant
MELA-AU155079153750791537deletion of <=200bpT-downstream_gene_variant
MELA-AU155079158550791585single base substitutionCTdownstream_gene_variant
MELA-AU155079405150794051single base substitutionCAintron_variant
MELA-AU155079410950794109single base substitutionCTintron_variant
MELA-AU155079413950794139single base substitutionCAintron_variant
MELA-AU155079420850794208single base substitutionCTintron_variant
MELA-AU155079433350794333single base substitutionCTintron_variant
MELA-AU155079440350794403single base substitutionCTintron_variant
MELA-AU155079488350794883single base substitutionCTintron_variant
MELA-AU155079495250794952single base substitutionCTintron_variant
MELA-AU155079498750794987single base substitutionGAintron_variant
MELA-AU155079627950796279single base substitutionGAintron_variant
MELA-AU155079653050796530single base substitutionCTintron_variant
MELA-AU155079786550797865single base substitutionTAintron_variant
MELA-AU155079818550798185single base substitutionTAintron_variant
MELA-AU155079874950798749single base substitutionGAintron_variant
MELA-AU155079894150798941single base substitutionGAintron_variant
MELA-AU155079975050799750single base substitutionCTintron_variant
MELA-AU155079976150799761single base substitutionTCintron_variant
MELA-AU155080072150800721single base substitutionGAdownstream_gene_variant
MELA-AU155080072150800721single base substitutionGAintron_variant
MELA-AU155080094250800942single base substitutionCTdownstream_gene_variant
MELA-AU155080094250800942single base substitutionCTintron_variant
MELA-AU155080165850801658single base substitutionCTdownstream_gene_variant
MELA-AU155080165850801658single base substitutionCTintron_variant
MELA-AU155080178150801781single base substitutionCTdownstream_gene_variant
MELA-AU155080178150801781single base substitutionCTintron_variant
MELA-AU155080181350801813single base substitutionCTdownstream_gene_variant
MELA-AU155080181350801813single base substitutionCTintron_variant
MELA-AU155080205950802059single base substitutionTGdownstream_gene_variant
MELA-AU155080205950802059single base substitutionTGintron_variant
MELA-AU155080219350802193single base substitutionCTdownstream_gene_variant
MELA-AU155080219350802193single base substitutionCTintron_variant
MELA-AU155080254050802540single base substitutionGAdownstream_gene_variant
MELA-AU155080254050802540single base substitutionGAintron_variant
MELA-AU155080437250804372single base substitutionCTdownstream_gene_variant
MELA-AU155080437250804372single base substitutionCTintron_variant
MELA-AU155080442250804422single base substitutionGAdownstream_gene_variant
MELA-AU155080442250804422single base substitutionGAintron_variant
MELA-AU155080448450804484single base substitutionCTdownstream_gene_variant
MELA-AU155080448450804484single base substitutionCTintron_variant
MELA-AU155080449450804494single base substitutionCTdownstream_gene_variant
MELA-AU155080449450804494single base substitutionCTintron_variant
MELA-AU155080514050805140single base substitutionCTdownstream_gene_variant
MELA-AU155080514050805140single base substitutionCTintron_variant
MELA-AU155080519050805190single base substitutionCTdownstream_gene_variant
MELA-AU155080519050805190single base substitutionCTintron_variant
MELA-AU155080676050806760single base substitutionCTintron_variant
MELA-AU155080696050806960single base substitutionCTintron_variant
MELA-AU155080794050807940deletion of <=200bpA-intron_variant
MELA-AU155080805450808054single base substitutionTCintron_variant
MELA-AU155080864050808640single base substitutionCTintron_variant
MELA-AU155080875150808751single base substitutionTCintron_variant
MELA-AU155080924550809245single base substitutionCTintron_variant
MELA-AU155080925350809253single base substitutionCTintron_variant
MELA-AU155080946550809465single base substitutionCGintron_variant
MELA-AU155080976250809762single base substitutionGAintron_variant
MELA-AU155080976950809769single base substitutionCTintron_variant
MELA-AU155081039950810399single base substitutionGAintron_variant
MELA-AU155081083950810839single base substitutionTAintron_variant
MELA-AU155081092050810920single base substitutionATintron_variant
MELA-AU155081095250810952single base substitutionGAintron_variant
MELA-AU155081096050810960single base substitutionGAintron_variant
MELA-AU155081112750811127single base substitutionTAintron_variant
MELA-AU155081140350811403single base substitutionGAintron_variant
MELA-AU155081182750811827single base substitutionGAintron_variant
MELA-AU155081200750812007single base substitutionGAintron_variant
MELA-AU155081240050812400single base substitutionGAintron_variant
MELA-AU155081272550812725single base substitutionGAintron_variant
MELA-AU155081304750813047single base substitutionCTintron_variant
MELA-AU155081362250813622single base substitutionAGintron_variant
MELA-AU155081386950813869single base substitutionCTintron_variant
MELA-AU155081473950814739single base substitutionCTintron_variant
MELA-AU155081480250814802single base substitutionGAintron_variant
MELA-AU155081514450815144single base substitutionCTintron_variant
MELA-AU155081589050815890single base substitutionATintron_variant
MELA-AU155081652450816524single base substitutionGAintron_variant
MELA-AU155081660250816602single base substitutionGAintron_variant
MELA-AU155081675750816757single base substitutionATintron_variant
MELA-AU155081723750817237single base substitutionTGintron_variant
MELA-AU155081729950817299single base substitutionGAintron_variant
MELA-AU155081766750817667single base substitutionGAintron_variant
MELA-AU155081775350817753single base substitutionGAintron_variant
MELA-AU155081775950817759single base substitutionAGintron_variant
MELA-AU155081776350817763single base substitutionAGintron_variant
MELA-AU155081779150817791single base substitutionAGintron_variant
MELA-AU155081789850817898single base substitutionAGintron_variant
MELA-AU155081820050818200single base substitutionGAintron_variant
MELA-AU155081860450818604single base substitutionCTintron_variant
MELA-AU155081865250818652single base substitutionCTintron_variant
MELA-AU155081909350819093single base substitutionGAintron_variant
MELA-AU155081953550819535single base substitutionGAintron_variant
MELA-AU155081997450819974single base substitutionGAintron_variant
MELA-AU155082003150820031single base substitutionAGintron_variant
MELA-AU155082003350820033single base substitutionCTintron_variant
MELA-AU155082060950820609single base substitutionAGintron_variant
MELA-AU155082062750820627single base substitutionGAintron_variant
MELA-AU155082186150821861single base substitutionGAintron_variant
MELA-AU155082227350822273single base substitutionGAintron_variant
MELA-AU155082228850822288single base substitutionGAintron_variant
MELA-AU155082249050822490single base substitutionGAintron_variant
MELA-AU155082250850822508single base substitutionGAintron_variant
MELA-AU155082276850822768single base substitutionGAintron_variant
MELA-AU155082297050822970single base substitutionGAintron_variant
MELA-AU155082337750823377single base substitutionGAintron_variant
MELA-AU155082369650823696single base substitutionGAintron_variant
MELA-AU155082427750824277single base substitutionTG3_prime_UTR_variant
MELA-AU155082427750824277single base substitutionTGintron_variant
MELA-AU155082434950824349single base substitutionACexon_variant
MELA-AU155082434950824349single base substitutionACintron_variant
MELA-AU155082439450824394single base substitutionGAexon_variant
MELA-AU155082439450824394single base substitutionGAintron_variant
MELA-AU155082522050825221multiple base substitution (>=2bp and <=200bp)CCATintron_variant
MELA-AU155082529450825294single base substitutionGAintron_variant
MELA-AU155082534750825347single base substitutionCTintron_variant
MELA-AU155082575350825753single base substitutionGAintron_variant
MELA-AU155082601250826012single base substitutionAGintron_variant
MELA-AU155082619650826196single base substitutionCAintron_variant
MELA-AU155082636050826360single base substitutionGAintron_variant
MELA-AU155082693850826938single base substitutionGAintron_variant
MELA-AU155082696750826967single base substitutionGAintron_variant
MELA-AU155082697550826975single base substitutionGAintron_variant
MELA-AU155082781350827813single base substitutionAGintron_variant
MELA-AU155082803850828038single base substitutionGAintron_variant
MELA-AU155082804750828047single base substitutionCTintron_variant
MELA-AU155082806550828065single base substitutionGAintron_variant
MELA-AU155082823050828230single base substitutionGAintron_variant
MELA-AU155082827650828276single base substitutionGAintron_variant
MELA-AU155082836650828366single base substitutionGAintron_variant
MELA-AU155082836750828367single base substitutionGAintron_variant
MELA-AU155082840650828406single base substitutionGAintron_variant
MELA-AU155082848450828484single base substitutionGAintron_variant
MELA-AU155082869450828694single base substitutionCTintron_variant
MELA-AU155082912750829127single base substitutionGAintron_variant
MELA-AU155082937950829379single base substitutionGTintron_variant
MELA-AU155082942350829423single base substitutionGAintron_variant
MELA-AU155082945550829455single base substitutionAGintron_variant
MELA-AU155083028550830285single base substitutionAGintron_variant
MELA-AU155083034850830348single base substitutionCTintron_variant
MELA-AU155083091350830914multiple base substitution (>=2bp and <=200bp)GGAA3_prime_UTR_variant
MELA-AU155083091350830914multiple base substitution (>=2bp and <=200bp)GGAAexon_variant
MELA-AU155083091350830914multiple base substitution (>=2bp and <=200bp)GGAAsynonymous_variantHL265
MELA-AU155083105750831057single base substitutionGAintron_variant
MELA-AU155083105750831057single base substitutionGAupstream_gene_variant
MELA-AU155083106550831065single base substitutionGCintron_variant
MELA-AU155083106550831065single base substitutionGCupstream_gene_variant
MELA-AU155083125850831258single base substitutionGAintron_variant
MELA-AU155083125850831258single base substitutionGAupstream_gene_variant
MELA-AU155083183350831833single base substitutionGAintron_variant
MELA-AU155083183350831833single base substitutionGAupstream_gene_variant
MELA-AU155083234250832342single base substitutionGAintron_variant
MELA-AU155083234250832342single base substitutionGAupstream_gene_variant
MELA-AU155083320450833204single base substitutionGAintron_variant
MELA-AU155083320450833204single base substitutionGAupstream_gene_variant
MELA-AU155083324650833246single base substitutionCTintron_variant
MELA-AU155083324650833246single base substitutionCTsplice_region_variant
MELA-AU155083324650833246single base substitutionCTupstream_gene_variant
MELA-AU155083374450833744single base substitutionGAintron_variant
MELA-AU155083374450833744single base substitutionGAupstream_gene_variant
MELA-AU155083384650833846single base substitutionGAintron_variant
MELA-AU155083384650833846single base substitutionGAupstream_gene_variant
MELA-AU155083420550834205single base substitutionGAintron_variant
MELA-AU155083420550834205single base substitutionGAupstream_gene_variant
MELA-AU155083437950834379single base substitutionTCintron_variant
MELA-AU155083437950834379single base substitutionTCupstream_gene_variant
MELA-AU155083606150836061single base substitutionGAintron_variant
MELA-AU155083624150836241single base substitutionGAintron_variant
MELA-AU155083648450836484single base substitutionGAintron_variant
MELA-AU155083660650836606single base substitutionACintron_variant
MELA-AU155083712750837127single base substitutionGAintron_variant
MELA-AU155083743450837434single base substitutionATintron_variant
MELA-AU155083774850837748single base substitutionGAintron_variant
MELA-AU155083778650837786single base substitutionGAintron_variant
MELA-AU155083815350838153single base substitutionCTintron_variant
MELA-AU155083841750838417single base substitutionGAintron_variant
MELA-AU155083856750838567single base substitutionCTintron_variant
MELA-AU155083872150838721single base substitutionATexon_variant
MELA-AU155083872150838721single base substitutionATstart_lostM1K2T>A
MELA-AU155083873050838730single base substitutionGA5_prime_UTR_variant
MELA-AU155083873050838730single base substitutionGAexon_variant
MELA-AU155083875050838750single base substitutionTC5_prime_UTR_variant
MELA-AU155083875050838750single base substitutionTCexon_variant
MELA-AU155083942450839424single base substitutionGAupstream_gene_variant
MELA-AU155083954950839549single base substitutionGAupstream_gene_variant
MELA-AU155083965750839657single base substitutionATupstream_gene_variant
MELA-AU155084026950840269single base substitutionGAupstream_gene_variant
MELA-AU155084238550842385single base substitutionTGupstream_gene_variant
MELA-AU155084249550842495single base substitutionGAupstream_gene_variant
MELA-AU155084279750842797single base substitutionGAupstream_gene_variant
MELA-AU155084383950843839single base substitutionGAupstream_gene_variant
ORCA-IN155082736250827363deletion of <=200bpAA-intron_variant
ORCA-IN155082772050827720single base substitutionTAintron_variant
ORCA-IN155083467850834678deletion of <=200bpA-intron_variant
ORCA-IN155083467850834678deletion of <=200bpA-upstream_gene_variant
OV-AU155079184650791846single base substitutionTGdownstream_gene_variant
OV-AU155080552050805520single base substitutionTCdownstream_gene_variant
OV-AU155080552050805520single base substitutionTCintron_variant
OV-AU155081325350813253single base substitutionTCintron_variant
OV-AU155081729950817299single base substitutionGAintron_variant
OV-AU155081778150817781single base substitutionAGintron_variant
OV-AU155081778350817783single base substitutionGAintron_variant
OV-AU155082010050820100single base substitutionCTintron_variant
OV-AU155082894250828942single base substitutionGAintron_variant
OV-AU155083146350831463single base substitutionGTintron_variant
OV-AU155083146350831463single base substitutionGTupstream_gene_variant
OV-AU155083176250831762single base substitutionGAintron_variant
OV-AU155083176250831762single base substitutionGAupstream_gene_variant
OV-AU155083306350833063single base substitutionCTintron_variant
OV-AU155083306350833063single base substitutionCTupstream_gene_variant
OV-AU155084287250842872single base substitutionGTupstream_gene_variant
PACA-AU155079909950799099single base substitutionGAintron_variant
PACA-AU155080703750807037single base substitutionTAintron_variant
PACA-AU155080703850807038single base substitutionATintron_variant
PACA-AU155080987450809874single base substitutionCAintron_variant
PACA-AU155081789850817898single base substitutionAGintron_variant
PACA-AU155081863750818637single base substitutionGAintron_variant
PACA-AU155081972550819725single base substitutionACintron_variant
PACA-AU155082409350824093single base substitutionCTintron_variant
PACA-AU155082567550825675deletion of <=200bpA-intron_variant
PACA-AU155083230050832300single base substitutionGAintron_variant
PACA-AU155083230050832300single base substitutionGAupstream_gene_variant
PACA-AU155083745850837458single base substitutionACintron_variant
PACA-AU155083854450838544single base substitutionCTintron_variant
PACA-CA155079419850794198single base substitutionCAintron_variant
PACA-CA155079819550798195single base substitutionGCintron_variant
PACA-CA155080009550800095single base substitutionGAintron_variant
PACA-CA155080562450805624single base substitutionCT3_prime_UTR_variant
PACA-CA155080562450805624single base substitutionCTintron_variant
PACA-CA155080595050805950single base substitutionCTintron_variant
PACA-CA155081319150813191single base substitutionAGintron_variant
PACA-CA155081841550818415single base substitutionTGintron_variant
PACA-CA155081893250818932single base substitutionCTintron_variant
PACA-CA155082201950822019single base substitutionGC3_prime_UTR_variant
PACA-CA155082201950822019single base substitutionGCexon_variant
PACA-CA155082201950822019single base substitutionGCmissense_variantP304R911C>G
PACA-CA155082214750822147single base substitutionTGintron_variant
PACA-CA155082472050824720single base substitutionGAintron_variant
PACA-CA155082567550825675deletion of <=200bpA-intron_variant
PACA-CA155082571450825714single base substitutionACintron_variant
PACA-CA155082805750828057single base substitutionGAintron_variant
PACA-CA155082860250828602single base substitutionCGintron_variant
PACA-CA155082961450829614single base substitutionAGintron_variant
PACA-CA155083207450832074single base substitutionCGintron_variant
PACA-CA155083207450832074single base substitutionCGupstream_gene_variant
PACA-CA155083467150834671single base substitutionCTintron_variant
PACA-CA155083467150834671single base substitutionCTupstream_gene_variant
PACA-CA155083467850834678single base substitutionATintron_variant
PACA-CA155083467850834678single base substitutionATupstream_gene_variant
PACA-CA155083496650834966single base substitutionGAintron_variant
PACA-CA155083496650834966single base substitutionGAupstream_gene_variant
PACA-CA155084017050840170single base substitutionAGupstream_gene_variant
PACA-CA155084078650840786single base substitutionAGupstream_gene_variant
PACA-CA155084083750840837single base substitutionTCupstream_gene_variant
PAEN-AU155081944150819441single base substitutionAGintron_variant
PAEN-IT155080115950801159single base substitutionAGdownstream_gene_variant
PAEN-IT155080115950801159single base substitutionAGintron_variant
PAEN-IT155083990250839902single base substitutionCTupstream_gene_variant
PBCA-DE155078870150788701single base substitutionTGdownstream_gene_variant
PBCA-DE155080569450805694single base substitutionCT3_prime_UTR_variant
PBCA-DE155080569450805694single base substitutionCTintron_variant
PBCA-DE155080673350806733insertion of <=200bp-Tintron_variant
PBCA-DE155080885350808853single base substitutionCTintron_variant
PBCA-DE155082085850820858single base substitutionGTintron_variant
PBCA-DE155082105650821056single base substitutionAGintron_variant
PBCA-DE155083870850838708single base substitutionCTexon_variant
PBCA-DE155083870850838708single base substitutionCTsynonymous_variantP5P15G>A
PBCA-DE155083910850839108single base substitutionCAupstream_gene_variant
PBCA-DE155083995550839955deletion of <=200bpA-upstream_gene_variant
PRAD-CA155079582150795821single base substitutionGTintron_variant
PRAD-CA155082341750823417single base substitutionTAintron_variant
PRAD-UK155079135750791357single base substitutionTCdownstream_gene_variant
PRAD-UK155079890650798906single base substitutionCTintron_variant
PRAD-UK155079981450799814single base substitutionAGintron_variant
PRAD-UK155080665450806654single base substitutionATintron_variant
PRAD-UK155081516950815169single base substitutionTCintron_variant
PRAD-UK155081785450817854insertion of <=200bp-TATATGTATATATGTATATATGTATATintron_variant
PRAD-US155078810550788105single base substitutionGTdownstream_gene_variant
PRAD-US155079090750790907single base substitutionTCdownstream_gene_variant
PRAD-US155083342650833426single base substitutionTCexon_variant
PRAD-US155083342650833426single base substitutionTCintron_variant
PRAD-US155083342650833426single base substitutionTCsynonymous_variantG160G480A>G
PRAD-US155083342650833426single base substitutionTCupstream_gene_variant
RECA-EU155080490350804903single base substitutionCAdownstream_gene_variant
RECA-EU155080490350804903single base substitutionCAintron_variant
RECA-EU155081203150812031single base substitutionGCintron_variant
RECA-EU155082238350822383single base substitutionGCintron_variant
RECA-EU155083359350833593single base substitutionCTintron_variant
RECA-EU155083359350833593single base substitutionCTupstream_gene_variant
RECA-EU155084239550842395single base substitutionGTupstream_gene_variant
SKCA-BR155078860350788603single base substitutionTGdownstream_gene_variant
SKCA-BR155078896650788966single base substitutionAGdownstream_gene_variant
SKCA-BR155078940850789408single base substitutionGAdownstream_gene_variant
SKCA-BR155079912150799121single base substitutionTCintron_variant
SKCA-BR155081096150810961single base substitutionGAintron_variant
SKCA-BR155081281150812811single base substitutionCTintron_variant
SKCA-BR155081375850813758single base substitutionGAintron_variant
SKCA-BR155081454550814545single base substitutionCTintron_variant
SKCA-BR155081477650814776single base substitutionGAintron_variant
SKCA-BR155081640350816403single base substitutionCTintron_variant
SKCA-BR155081774750817751deletion of <=200bpATATG-intron_variant
SKCA-BR155081776350817763single base substitutionAGintron_variant
SKCA-BR155081776550817769deletion of <=200bpATATG-intron_variant
SKCA-BR155081781750817817single base substitutionAGintron_variant
SKCA-BR155081781950817819single base substitutionGAintron_variant
SKCA-BR155081800650818006single base substitutionTAintron_variant
SKCA-BR155081800850818011deletion of <=200bpAATG-intron_variant
SKCA-BR155082047750820477insertion of <=200bp-CTTintron_variant
SKCA-BR155082502850825028single base substitutionCTintron_variant
SKCA-BR155082744850827448single base substitutionCTintron_variant
SKCA-BR155083158850831588insertion of <=200bp-GTTTintron_variant
SKCA-BR155083158850831588insertion of <=200bp-GTTTupstream_gene_variant
SKCA-BR155083307950833079single base substitutionCTintron_variant
SKCA-BR155083307950833079single base substitutionCTupstream_gene_variant
SKCA-BR155083325350833253single base substitutionGA3_prime_UTR_variant
SKCA-BR155083325350833253single base substitutionGAintron_variant
SKCA-BR155083325350833253single base substitutionGAmissense_variantS218F653C>T
SKCA-BR155083325350833253single base substitutionGAupstream_gene_variant
SKCA-BR155083903550839035single base substitutionCTupstream_gene_variant
SKCA-BR155084336050843360single base substitutionGAupstream_gene_variant
SKCA-BR155084351250843512single base substitutionGAupstream_gene_variant
SKCM-US155078817650788176single base substitutionCTdownstream_gene_variant
SKCM-US155079122150791221single base substitutionCTdownstream_gene_variant
SKCM-US155083098750830987single base substitutionGA3_prime_UTR_variant
SKCM-US155083098750830987single base substitutionGAexon_variant
SKCM-US155083098750830987single base substitutionGAmissense_variantS241F722C>T
SKCM-US155083325250833252single base substitutionGA3_prime_UTR_variant
SKCM-US155083325250833252single base substitutionGAintron_variant
SKCM-US155083325250833252single base substitutionGAsynonymous_variantS218S654C>T
SKCM-US155083325250833252single base substitutionGAupstream_gene_variant
SKCM-US155083330250833302single base substitutionCT3_prime_UTR_variant
SKCM-US155083330250833302single base substitutionCTintron_variant
SKCM-US155083330250833302single base substitutionCTmissense_variantE202K604G>A
SKCM-US155083330250833302single base substitutionCTupstream_gene_variant
STAD-US155079118750791187single base substitutionGCdownstream_gene_variant
STAD-US155083681050836810single base substitutionGAintron_variant
STAD-US155083681050836810single base substitutionGAsynonymous_variantT74T222C>T
STAD-US155083686650836866single base substitutionTCintron_variant
STAD-US155083686650836866single base substitutionTCmissense_variantN56D166A>G
STAD-US155083868750838687single base substitutionGAexon_variant
STAD-US155083868750838687single base substitutionGAsynonymous_variantF12F36C>T
UCEC-US155078807250788072single base substitutionGTdownstream_gene_variant
UCEC-US155078820050788200single base substitutionAGdownstream_gene_variant
UCEC-US155078940450789404single base substitutionCTdownstream_gene_variant
UCEC-US155079082050790820single base substitutionACdownstream_gene_variant
UCEC-US155079085750790857single base substitutionCAdownstream_gene_variant
UCEC-US155083099550830995single base substitutionAG3_prime_UTR_variant
UCEC-US155083099550830995single base substitutionAGexon_variant
UCEC-US155083099550830995single base substitutionAGsynonymous_variantI238I714T>C
UCEC-US155083325550833255single base substitutionGA3_prime_UTR_variant
UCEC-US155083325550833255single base substitutionGAintron_variant
UCEC-US155083325550833255single base substitutionGAsynonymous_variantC217C651C>T
UCEC-US155083325550833255single base substitutionGAupstream_gene_variant
UCEC-US155083333950833339single base substitutionGTexon_variant
UCEC-US155083333950833339single base substitutionGTintron_variant
UCEC-US155083333950833339single base substitutionGTsynonymous_variantI189I567C>A
UCEC-US155083333950833339single base substitutionGTupstream_gene_variant
UCEC-US155083583750835837single base substitutionGTintron_variant
UCEC-US155083583750835837single base substitutionGTmissense_variantF134L402C>A
UCEC-US155083583750835837single base substitutionGTupstream_gene_variant
UCEC-US155083587350835873single base substitutionTGintron_variant
UCEC-US155083587350835873single base substitutionTGsynonymous_variantA122A366A>C
UCEC-US155083587350835873single base substitutionTGupstream_gene_variant
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
TCGA-F4-6570-01COSM1373373c.979C>Ap.H327NSubstitution - Missense15:50500810-50500810-
T2269COSM264621c.724G>Ap.E242KSubstitution - Missense15:50538803-50538803-
3N09-VS-3T09COSM4979189c.532G>Cp.E178QSubstitution - Missense15:50541192-50541192-
587376COSM1232096c.308A>Gp.D103GSubstitution - Missense15:50543749-50543749-
I2L-P7-Tumor-OrganoidCOSM5363160c.765T>Cp.A255ASubstitution - coding silent15:50538762-50538762-
BCM265TCOSM4955160c.453A>Gp.L151LSubstitution - coding silent15:50543604-50543604-
P110COSM190273c.706G>Ap.A236TSubstitution - Missense15:50538821-50538821-
TCGA-JW-A5VL-01COSM4846451c.497C>Gp.S166CSubstitution - Missense15:50541227-50541227-
S01297COSM5667469c.570C>Gp.L190LSubstitution - coding silent15:50541154-50541154-
MO_1012COSM5550698c.280G>Ap.A94TSubstitution - Missense15:50543777-50543777-
ESCC_76COSM4846451c.497C>Gp.S166CSubstitution - Missense15:50541227-50541227-
SC_9096COSM5559220c.890T>Cp.L297PSubstitution - Missense15:50529858-50529858-
TCGA-22-5482-01COSM701084c.487G>Ap.E163KSubstitution - Missense15:50541237-50541237-
TCGA-HU-A4GX-01COSM4055447c.222C>Tp.T74TSubstitution - coding silent15:50544613-50544613-
TCGA-AP-A056-01COSM962576c.729T>Cp.I243ISubstitution - coding silent15:50538798-50538798-
SJHGG025_DCOSM4970156c.386C>Tp.T129MSubstitution - Missense15:50543671-50543671-
TCGA-BQ-5882-01COSM3987994c.294C>Tp.A98ASubstitution - coding silent15:50543763-50543763-
BN34TCOSM3746383c.138G>Tp.L46FSubstitution - Missense15:50544697-50544697-
T3152COSM4739920c.458delAp.K153fs*45Deletion - Frameshift15:50543599-50543599-
TCGA-B0-5116-01COSM470769c.618C>Tp.N206NSubstitution - coding silent15:50541106-50541106-
TCGA-22-1016-01COSM701085c.916C>Tp.R306WSubstitution - Missense15:50529832-50529832-
TCGA-B0-5098-01COSM1493420c.659A>Gp.Y220CSubstitution - Missense15:50541065-50541065-
CHEWS031COSM4055447c.222C>Tp.T74TSubstitution - coding silent15:50544613-50544613-
TCGA-BS-A0UV-01COSM962577c.666C>Tp.C222CSubstitution - coding silent15:50541058-50541058-
HCC068TCOSM5824365c.734G>Tp.C245FSubstitution - Missense15:50538793-50538793-
TCGA-A8-A09Z-01COSM190273c.706G>Ap.A236TSubstitution - Missense15:50538821-50538821-
169COSM3730004c.696_697insTp.Q233fs*17Insertion - Frameshift15:50538830-50538831-
TCGA-AG-A002-01COSM264622c.387G>Ap.T129TSubstitution - coding silent15:50543670-50543670-
TCGA-BG-A0MC-01COSM962580c.381A>Cp.A127ASubstitution - coding silent15:50543676-50543676-
PCSI_0224_Pa_P_526COSM3786524c.926C>Gp.P309RSubstitution - Missense15:50529822-50529822-
STC252COSM5054335c.667T>Cp.S223PSubstitution - Missense15:50541057-50541057-
TCGA-FS-A1ZQ-06COSM3501989c.737C>Tp.S246FSubstitution - Missense15:50538790-50538790-
543COSM5612536c.223G>Ap.G75RSubstitution - Missense15:50544612-50544612-
TCGA-BR-6566-01COSM4055448c.166A>Gp.N56DSubstitution - Missense15:50544669-50544669-
LOVOCOSM2216632c.37G>Ap.D13NSubstitution - Missense15:50546489-50546489-
587376COSM1232095c.393G>Tp.K131NSubstitution - Missense15:50543664-50543664-
T1764COSM4739921c.48C>Tp.H16HSubstitution - coding silent15:50546478-50546478-
RK164_C01COSM3700972c.13C>Ap.P5TSubstitution - Missense15:50546513-50546513-
ICGC_MB78COSM3401808c.15G>Ap.P5PSubstitution - coding silent15:50546511-50546511-
TCGA-AG-A002-01COSM264621c.724G>Ap.E242KSubstitution - Missense15:50538803-50538803-
CSCC-27-TCOSM4534467c.208G>Ap.E70KSubstitution - Missense15:50544627-50544627-
T3064COSM4739919c.696delTp.Q233fs*5Deletion - Frameshift15:50538831-50538831-
4133COSM1645118c.913T>Gp.F305VSubstitution - Missense15:50529835-50529835-
A6COSM5350265c.21C>Gp.L7LSubstitution - coding silent15:50546505-50546505-
BD114TCOSM5504113c.144C>Gp.N48KSubstitution - Missense15:50544691-50544691-
TCGA-EJ-7793-01COSM1470808c.495A>Gp.G165GSubstitution - coding silent15:50541229-50541229-
TCGA-FW-A3R5-06COSM3887111c.619G>Ap.E207KSubstitution - Missense15:50541105-50541105-
CHC1053TCOSM251283c.953delAp.N318fs*>22Deletion - Frameshift15:50500836-50500836-
TCGA-AX-A05Z-01COSM962579c.417C>Ap.F139LSubstitution - Missense15:50543640-50543640-
TCGA-EE-A29S-06COSM3501990c.669C>Tp.S223SSubstitution - coding silent15:50541055-50541055-
BCM265TCOSM4955160c.453A>Gp.L151LSubstitution - coding silent15:50543604-50543604-
TCGA-CJ-4899-01COSM470770c.456A>Tp.K152NSubstitution - Missense15:50543601-50543601-
107430COSM95487c.778A>Gp.I260VSubstitution - Missense15:50538749-50538749-
TCGA-AX-A0J0-01COSM962578c.582C>Ap.I194ISubstitution - coding silent15:50541142-50541142-
S02376COSM5696941c.695T>Cp.F232SSubstitution - Missense15:50538832-50538832-
C608COSM4442752c.770G>Tp.R257MSubstitution - Missense15:50538757-50538757-
LIM2551COSM4643908c.486T>Cp.Y162YSubstitution - coding silent15:50541238-50541238-
TCGA-BR-8680-01COSM4055449c.36C>Tp.F12FSubstitution - coding silent15:50546490-50546490-
TCGA-06-0192-01COSM3401808c.15G>Ap.P5PSubstitution - coding silent15:50546511-50546511-
CHC1053TCOSM251283c.953delAp.N318fs*>22Deletion - Frameshift15:50500836-50500836-
86576COSM95488c.579C>Gp.S193RSubstitution - Missense15:50541145-50541145-
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.677675;Hs.677676;Hs.677677;Hs.677679;Hs.677680;Hs.677681;Hs.677682;Hs.677683;Hs.677684;Hs.677685;Hs.677686;Hs.677687;Hs.677688;Hs.677689;Hs.677690;Hs.677691;Hs.677692;Hs.677693;Hs.677694;Hs.677695;Hs.677696;Hs.677697;Hs.677698;Hs.677699;Hs.677700;Hs.677701;Hs.677702;Hs.677703;Hs.677704;Hs.677705;Hs.677706;Hs.677707;Hs.677708;Hs.677709;Hs.677711;Hs.677714;Hs.677715;Hs.677716;Hs.677717;Hs.677718;Hs.677719;Hs.677720;Hs.677721;Hs.677722;Hs.677725;Hs.677726;Hs.677727;Hs.677728;Hs.677729;Hs.677730;Hs.677731;Hs.677732;Hs.677733;Hs.677734;Hs.677735;Hs.677736;Hs.677737;Hs.677738;Hs.677739;Hs.677740;Hs.677742;Hs.677743;Hs.677744;Hs.677745;Hs.677747;Hs.677749;Hs.677750;Hs.677751;Hs.677752;Hs.677753;Hs.677754;Hs.677756;Hs.67775815q21.1
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
CANonsensep.G102*c.304G>T1550835935LUAD
CGMissensep.R167Tc.500G>C1550833406CM
CTMissensep.A57Tc.169G>A1550836863CM
CTMissensep.E158Kc.472G>A1550833434LUSC
CTSynonymousp.P5Pc.15G>A1550838708GBM
CTSynonymousp.P5Pc.15G>A1550838708MB
GAMissensep.R301Wc.901C>T1550822029LUSC
GAMissensep.S241Fc.722C>T1550830987CM
GAMissensep.T27Ic.80C>T1550836952CM
GASynonymousp.F264Fc.792C>T1550830917HNSC
GASynonymousp.N201Nc.603C>T1550833303RCCC
GASynonymousp.S218Sc.654C>T1550833252CM
TAMissensep.K147Nc.441A>T1550835798RCCC
TCMissensep.S64Gc.190A>G1550836842LUAD
TCSynonymousp.G160Gc.480A>G1550833426PRAD
T-Frameshiftp.N313Tfs*46c.938delA1550793033HC
TGMissensep.Q129Hc.387A>C1550835852COREAD
TGSynonymousp.A122Ac.366A>C1550835873UCEC