Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 3 52109916 52109916 + Missense_Mutation SNP C C T TCGA-FD-A6TD-01A-51D-A339-08 TCGA-FD-A6TD-10A-21D-A339-08 g.chr3:52109916C>T c.1211G>A c.(1210-1212)aGa>aAa p.R404K BLCA 3 52109918 52109918 + Silent SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 g.chr3:52109918C>T c.1209G>A c.(1207-1209)caG>caA p.Q403Q BLCA 3 52109975 52109975 + Missense_Mutation SNP C C G TCGA-FD-A6TD-01A-51D-A339-08 TCGA-FD-A6TD-10A-21D-A339-08 g.chr3:52109975C>G c.1152G>C c.(1150-1152)ttG>ttC p.L384F BLCA 3 52109989 52109989 + Missense_Mutation SNP G G C TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr3:52109989G>C c.1138C>G c.(1138-1140)Ctg>Gtg p.L380V BLCA 3 52172281 52172281 + Silent SNP C C T TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr3:52172281C>T c.717G>A c.(715-717)ccG>ccA p.P239P BLCA 3 52179937 52179937 + Missense_Mutation SNP T T C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 g.chr3:52179937T>C c.604A>G c.(604-606)Att>Gtt p.I202V BLCA 3 52183865 52183865 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr3:52183865C>T c.242G>A c.(241-243)cGa>cAa p.R81Q BLCA 3 52183892 52183892 + Missense_Mutation SNP G G A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr3:52183892G>A c.215C>T c.(214-216)tCg>tTg p.S72L BLCA 3 52183972 52183972 + Silent SNP G G C TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 g.chr3:52183972G>C c.135C>G c.(133-135)gtC>gtG p.V45V BRCA 3 52109949 52109949 + Missense_Mutation SNP T T G TCGA-D8-A1X5-01A-11D-A14G-09 TCGA-D8-A1X5-10A-01D-A14G-09 g.chr3:52109949T>G c.1178A>C c.(1177-1179)cAg>cCg p.Q393P BRCA 3 52183914 52183914 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 g.chr3:52183914T>G c.193A>C c.(193-195)Acc>Ccc p.T65P CESC 3 52159161 52159161 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr3:52159161C>T c.850G>A c.(850-852)Gag>Aag p.E284K COAD 3 52156396 52156396 + Splice_Site SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:52156396A>C c.980T>G c.(979-981)cTg>cGg p.L327R COAD 3 52159189 52159189 + Silent SNP G G T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:52159189G>T c.822C>A c.(820-822)gcC>gcA p.A274A COAD 3 52179895 52179895 + Missense_Mutation SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr3:52179895C>T c.646G>A c.(646-648)Gtg>Atg p.V216M COAD 3 52179927 52179927 + Missense_Mutation SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr3:52179927G>A c.614C>T c.(613-615)gCc>gTc p.A205V COAD 3 52181041 52181041 + Missense_Mutation SNP T T A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr3:52181041T>A c.526A>T c.(526-528)Agc>Tgc p.S176C COAD 3 52183362 52183362 + Missense_Mutation SNP T T A TCGA-AA-3542-01A-02W-0831-10 TCGA-AA-3542-10A-01W-0831-10 g.chr3:52183362T>A c.319A>T c.(319-321)Agg>Tgg p.R107W COAD 3 52183891 52183891 + Silent SNP C C T TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr3:52183891C>T c.216G>A c.(214-216)tcG>tcA p.S72S COAD 3 52183917 52183917 + Missense_Mutation SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr3:52183917C>T c.190G>A c.(190-192)Gtc>Atc p.V64I COAD 3 52185085 52185085 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr3:52185085C>T c.50G>A c.(49-51)gGc>gAc p.G17D COADREAD 3 52156396 52156396 + Splice_Site SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:52156396A>C c.980T>G c.(979-981)cTg>cGg p.L327R COADREAD 3 52159189 52159189 + Silent SNP G G T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:52159189G>T c.822C>A c.(820-822)gcC>gcA p.A274A COADREAD 3 52179895 52179895 + Missense_Mutation SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr3:52179895C>T c.646G>A c.(646-648)Gtg>Atg p.V216M COADREAD 3 52179927 52179927 + Missense_Mutation SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr3:52179927G>A c.614C>T c.(613-615)gCc>gTc p.A205V COADREAD 3 52181041 52181041 + Missense_Mutation SNP T T A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr3:52181041T>A c.526A>T c.(526-528)Agc>Tgc p.S176C COADREAD 3 52183362 52183362 + Missense_Mutation SNP T T A TCGA-AA-3542-01A-02W-0831-10 TCGA-AA-3542-10A-01W-0831-10 g.chr3:52183362T>A c.319A>T c.(319-321)Agg>Tgg p.R107W COADREAD 3 52183891 52183891 + Silent SNP C C T TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr3:52183891C>T c.216G>A c.(214-216)tcG>tcA p.S72S COADREAD 3 52183917 52183917 + Missense_Mutation SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr3:52183917C>T c.190G>A c.(190-192)Gtc>Atc p.V64I COADREAD 3 52185085 52185085 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr3:52185085C>T c.50G>A c.(49-51)gGc>gAc p.G17D GBM 3 52156395 52156395 + Splice_Site SNP C C T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 g.chr3:52156395C>T c.981G>A c.(979-981)ctG>ctA p.L327L GBMLGG 3 52156395 52156395 + Splice_Site SNP C C T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 g.chr3:52156395C>T c.981G>A c.(979-981)ctG>ctA p.L327L GBMLGG 3 52159164 52159164 + Missense_Mutation SNP C C T TCGA-CS-4942-01A-01D-1468-08 TCGA-CS-4942-10A-01D-1468-08 g.chr3:52159164C>T c.847G>A c.(847-849)Ggg>Agg p.G283R HNSC 3 52109924 52109924 + Silent SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr3:52109924G>T c.1203C>A c.(1201-1203)atC>atA p.I401I HNSC 3 52183327 52183327 + Silent SNP G G A TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 g.chr3:52183327G>A c.354C>T c.(352-354)ttC>ttT p.F118F HNSC 3 52185030 52185030 + Splice_Site SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr3:52185030A>G c.e2+1 KIPAN 3 52109979 52109979 + Missense_Mutation SNP C C A TCGA-DZ-6133-01A-11D-1961-08 TCGA-DZ-6133-10A-01D-1962-08 g.chr3:52109979C>A c.1148G>T c.(1147-1149)cGg>cTg p.R383L KIPAN 3 52181040 52181040 + Missense_Mutation SNP C C A TCGA-B9-A44B-01A-11D-A25F-10 TCGA-B9-A44B-10A-01D-A25F-10 g.chr3:52181040C>A c.527G>T c.(526-528)aGc>aTc p.S176I KIRP 3 52109979 52109979 + Missense_Mutation SNP C C A TCGA-DZ-6133-01A-11D-1961-08 TCGA-DZ-6133-10A-01D-1962-08 g.chr3:52109979C>A c.1148G>T c.(1147-1149)cGg>cTg p.R383L KIRP 3 52181040 52181040 + Missense_Mutation SNP C C A TCGA-B9-A44B-01A-11D-A25F-10 TCGA-B9-A44B-10A-01D-A25F-10 g.chr3:52181040C>A c.527G>T c.(526-528)aGc>aTc p.S176I LAML 3 52172304 52172304 + Missense_Mutation SNP C C T TCGA-AB-2912-03A-01W-0732-08 TCGA-AB-2912-11A-01W-0761-09 g.chr3:52172304C>T c.694G>A c.(694-696)Gtg>Atg p.V232M LGG 3 52159164 52159164 + Missense_Mutation SNP C C T TCGA-CS-4942-01A-01D-1468-08 TCGA-CS-4942-10A-01D-1468-08 g.chr3:52159164C>T c.847G>A c.(847-849)Ggg>Agg p.G283R LUAD 3 52130587 52130587 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 g.chr3:52130587G>C c.1123C>G c.(1123-1125)Cag>Gag p.Q375E LUAD 3 52172224 52172224 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr3:52172224C>G c.774G>C c.(772-774)ctG>ctC p.L258L LUAD 3 52181101 52181101 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 g.chr3:52181101C>A c.466G>T c.(466-468)Gac>Tac p.D156Y LUAD 3 52183873 52183873 + Silent SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 g.chr3:52183873G>A c.234C>T c.(232-234)tcC>tcT p.S78S LUAD 3 52183986 52183986 + Missense_Mutation SNP A A C TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chr3:52183986A>C c.121T>G c.(121-123)Tca>Gca p.S41A LUAD 3 52185109 52185109 + Missense_Mutation SNP G G A TCGA-50-5066-01A-01D-1625-08 TCGA-50-5066-10A-01D-1625-08 g.chr3:52185109G>A c.26C>T c.(25-27)cCc>cTc p.P9L PAAD 3 52156463 52156463 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:52156463C>T c.913G>A c.(913-915)Gtt>Att p.V305I PAAD 3 52181054 52181054 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:52181054C>T c.513G>A c.(511-513)ctG>ctA p.L171L PAAD 3 52185074 52185074 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:52185074C>A c.61G>T c.(61-63)Gca>Tca p.A21S SKCM 3 52130635 52130635 + Silent SNP G G A TCGA-EE-A2A5-06A-11D-A197-08 TCGA-EE-A2A5-10A-01D-A199-08 g.chr3:52130635G>A c.1075C>T c.(1075-1077)Ctg>Ttg p.L359L SKCM 3 52130636 52130636 + Silent SNP T T A TCGA-EE-A2A5-06A-11D-A197-08 TCGA-EE-A2A5-10A-01D-A199-08 g.chr3:52130636T>A c.1074A>T c.(1072-1074)acA>acT p.T358T SKCM 3 52130706 52130706 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:52130706G>A c.1004C>T c.(1003-1005)cCc>cTc p.P335L SKCM 3 52130714 52130714 + Silent SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 g.chr3:52130714G>A c.996C>T c.(994-996)ttC>ttT p.F332F SKCM 3 52183354 52183354 + Silent SNP G G A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr3:52183354G>A c.327C>T c.(325-327)gtC>gtT p.V109V SKCM 3 52185054 52185054 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr3:52185054G>A c.81C>T c.(79-81)ttC>ttT p.F27F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 3 52179937 52179937 single base substitution T C missense_variant I164V 490A>G BLCA-US 3 52179937 52179937 single base substitution T C missense_variant I202V 604A>G BLCA-US 3 52183865 52183865 single base substitution C T missense_variant R43Q 128G>A BLCA-US 3 52183865 52183865 single base substitution C T missense_variant R81Q 242G>A BOCA-FR 3 52128343 52128343 single base substitution C T intron_variant BRCA-EU 3 52105207 52105207 single base substitution G C downstream_gene_variant BRCA-EU 3 52109856 52109856 single base substitution G T 3_prime_UTR_variant BRCA-EU 3 52110537 52110537 single base substitution C T intron_variant BRCA-EU 3 52110937 52110937 single base substitution C G intron_variant BRCA-EU 3 52113777 52113777 single base substitution G T intron_variant BRCA-EU 3 52114133 52114133 single base substitution A G intron_variant BRCA-EU 3 52116810 52116810 single base substitution C T intron_variant BRCA-EU 3 52117518 52117518 single base substitution C T intron_variant BRCA-EU 3 52119337 52119337 single base substitution C G intron_variant BRCA-EU 3 52119539 52119539 single base substitution C A intron_variant BRCA-EU 3 52122728 52122728 single base substitution G A intron_variant BRCA-EU 3 52127119 52127119 single base substitution G A intron_variant BRCA-EU 3 52128967 52128967 single base substitution T G intron_variant BRCA-EU 3 52129929 52129929 single base substitution G A intron_variant BRCA-EU 3 52130198 52130198 single base substitution C T intron_variant BRCA-EU 3 52131390 52131390 single base substitution G A intron_variant BRCA-EU 3 52133574 52133574 insertion of <=200bp - T intron_variant BRCA-EU 3 52134078 52134078 deletion of <=200bp G - intron_variant BRCA-EU 3 52134469 52134469 single base substitution C G intron_variant BRCA-EU 3 52134692 52134692 single base substitution C T intron_variant BRCA-EU 3 52134772 52134772 deletion of <=200bp A - intron_variant BRCA-EU 3 52135298 52135298 single base substitution G C intron_variant BRCA-EU 3 52136609 52136609 single base substitution C T intron_variant BRCA-EU 3 52137880 52137880 single base substitution G T intron_variant BRCA-EU 3 52144172 52144172 deletion of <=200bp T - intron_variant BRCA-EU 3 52144467 52144467 single base substitution C T intron_variant BRCA-EU 3 52148214 52148214 single base substitution G C intron_variant BRCA-EU 3 52150047 52150047 single base substitution A T intron_variant BRCA-EU 3 52151070 52151070 single base substitution G A intron_variant BRCA-EU 3 52151369 52151369 deletion of <=200bp A - intron_variant BRCA-EU 3 52151852 52151852 single base substitution G A intron_variant BRCA-EU 3 52152059 52152059 single base substitution G C intron_variant BRCA-EU 3 52152313 52152313 single base substitution G T intron_variant BRCA-EU 3 52153510 52153510 single base substitution A C intron_variant BRCA-EU 3 52155953 52155953 deletion of <=200bp A - intron_variant BRCA-EU 3 52157744 52157744 single base substitution T A intron_variant BRCA-EU 3 52160789 52160789 single base substitution A C intron_variant BRCA-EU 3 52161396 52161396 single base substitution C A intron_variant BRCA-EU 3 52161631 52161631 single base substitution G A intron_variant BRCA-EU 3 52166670 52166670 single base substitution G A intron_variant BRCA-EU 3 52166703 52166703 single base substitution T G intron_variant BRCA-EU 3 52168190 52168190 single base substitution G C intron_variant BRCA-EU 3 52169869 52169869 single base substitution C T intron_variant BRCA-EU 3 52170049 52170049 single base substitution G T intron_variant BRCA-EU 3 52170955 52170955 deletion of <=200bp T - intron_variant BRCA-EU 3 52171806 52171806 single base substitution A T intron_variant BRCA-EU 3 52172009 52172009 single base substitution C A intron_variant BRCA-EU 3 52174682 52174682 single base substitution G C intron_variant BRCA-EU 3 52175191 52175191 single base substitution G C intron_variant BRCA-EU 3 52176841 52176841 single base substitution G A intron_variant BRCA-EU 3 52177439 52177439 single base substitution C A intron_variant BRCA-EU 3 52177700 52177700 single base substitution T C intron_variant BRCA-EU 3 52178183 52178183 single base substitution G A intron_variant BRCA-EU 3 52178451 52178451 single base substitution G A intron_variant BRCA-EU 3 52185455 52185455 deletion of <=200bp A - intron_variant BRCA-EU 3 52187701 52187701 single base substitution C T intron_variant BRCA-EU 3 52190560 52190560 single base substitution G A upstream_gene_variant BRCA-EU 3 52191369 52191369 single base substitution G T upstream_gene_variant BRCA-EU 3 52192011 52192011 single base substitution C T upstream_gene_variant BRCA-EU 3 52192030 52192030 single base substitution C A upstream_gene_variant BRCA-EU 3 52192727 52192727 single base substitution G C upstream_gene_variant BRCA-FR 3 52119337 52119337 single base substitution C G intron_variant BRCA-FR 3 52119539 52119539 single base substitution C A intron_variant BRCA-FR 3 52122728 52122728 single base substitution G A intron_variant BRCA-FR 3 52152339 52152339 single base substitution C A intron_variant BRCA-FR 3 52172009 52172009 single base substitution C A intron_variant BRCA-FR 3 52191369 52191369 single base substitution G T upstream_gene_variant BRCA-UK 3 52146561 52146561 single base substitution G A intron_variant BRCA-UK 3 52168132 52168132 single base substitution G C intron_variant BRCA-UK 3 52168558 52168558 single base substitution G C intron_variant BRCA-UK 3 52188407 52188407 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 3 52109949 52109949 single base substitution T G missense_variant Q345P 1034A>C BRCA-US 3 52109949 52109949 single base substitution T G missense_variant Q355P 1064A>C BRCA-US 3 52109949 52109949 single base substitution T G missense_variant Q393P 1178A>C BRCA-US 3 52183914 52183914 single base substitution T G missense_variant T27P 79A>C BRCA-US 3 52183914 52183914 single base substitution T G missense_variant T65P 193A>C BTCA-JP 3 52159162 52159170 deletion of <=200bp CCCCGTTCT - inframe_deletion RTG243 BTCA-JP 3 52159162 52159170 deletion of <=200bp CCCCGTTCT - inframe_deletion RTG281 BTCA-JP 3 52181111 52181111 single base substitution C A missense_variant K114N 342G>T BTCA-JP 3 52181111 52181111 single base substitution C A missense_variant K152N 456G>T BTCA-JP 3 52183810 52183810 single base substitution C A intron_variant BTCA-JP 3 52184996 52184996 single base substitution C T intron_variant CESC-US 3 52159161 52159161 single base substitution C T missense_variant E246K 736G>A CESC-US 3 52159161 52159161 single base substitution C T missense_variant E284K 850G>A CLLE-ES 3 52108440 52108440 single base substitution C A downstream_gene_variant CLLE-ES 3 52146369 52146369 single base substitution A G intron_variant COAD-US 3 52159189 52159189 single base substitution G T synonymous_variant A236A 708C>A COAD-US 3 52159189 52159189 single base substitution G T synonymous_variant A274A 822C>A COAD-US 3 52179895 52179895 single base substitution C T missense_variant V178M 532G>A COAD-US 3 52179895 52179895 single base substitution C T missense_variant V216M 646G>A COAD-US 3 52181041 52181041 single base substitution T A missense_variant S138C 412A>T COAD-US 3 52181041 52181041 single base substitution T A missense_variant S176C 526A>T COAD-US 3 52183917 52183917 single base substitution C T missense_variant V26I 76G>A COAD-US 3 52183917 52183917 single base substitution C T missense_variant V64I 190G>A COAD-US 3 52185085 52185085 single base substitution C T 5_prime_UTR_variant COAD-US 3 52185085 52185085 single base substitution C T missense_variant G17D 50G>A COCA-CN 3 52106579 52106579 single base substitution C T downstream_gene_variant COCA-CN 3 52130698 52130698 single base substitution T A intron_variant COCA-CN 3 52130698 52130698 single base substitution T A stop_gained R300* 898A>T COCA-CN 3 52130698 52130698 single base substitution T A stop_gained R338* 1012A>T COCA-CN 3 52183833 52183833 single base substitution C T missense_variant V54I 160G>A COCA-CN 3 52183833 52183833 single base substitution C T missense_variant V92I 274G>A EOPC-DE 3 52153033 52153033 single base substitution G T intron_variant EOPC-DE 3 52181762 52181762 single base substitution T C intron_variant EOPC-DE 3 52189575 52189575 single base substitution A T upstream_gene_variant ESAD-UK 3 52104904 52104904 single base substitution C A downstream_gene_variant ESAD-UK 3 52105607 52105607 single base substitution C A downstream_gene_variant ESAD-UK 3 52106074 52106074 deletion of <=200bp C - downstream_gene_variant ESAD-UK 3 52108062 52108062 single base substitution C G downstream_gene_variant ESAD-UK 3 52108383 52108383 single base substitution A G downstream_gene_variant ESAD-UK 3 52111086 52111086 single base substitution G T intron_variant ESAD-UK 3 52112806 52112806 single base substitution C T intron_variant ESAD-UK 3 52123652 52123652 single base substitution A T intron_variant ESAD-UK 3 52124378 52124378 single base substitution G C intron_variant ESAD-UK 3 52125235 52125235 single base substitution T C intron_variant ESAD-UK 3 52126353 52126353 single base substitution G C intron_variant ESAD-UK 3 52128205 52128205 single base substitution C T intron_variant ESAD-UK 3 52129162 52129162 single base substitution T C intron_variant ESAD-UK 3 52134312 52134312 single base substitution T A intron_variant ESAD-UK 3 52137076 52137076 single base substitution C T intron_variant ESAD-UK 3 52137087 52137087 deletion of <=200bp T - intron_variant ESAD-UK 3 52137372 52137372 single base substitution G A intron_variant ESAD-UK 3 52139532 52139532 single base substitution T C intron_variant ESAD-UK 3 52139714 52139714 single base substitution A G intron_variant ESAD-UK 3 52139844 52139844 single base substitution G A intron_variant ESAD-UK 3 52139986 52139986 single base substitution G A intron_variant ESAD-UK 3 52143879 52143879 single base substitution C T intron_variant ESAD-UK 3 52146183 52146183 insertion of <=200bp - T intron_variant ESAD-UK 3 52147242 52147242 single base substitution C T intron_variant ESAD-UK 3 52151988 52151988 single base substitution G C intron_variant ESAD-UK 3 52155904 52155904 single base substitution G A intron_variant ESAD-UK 3 52156731 52156731 single base substitution G A intron_variant ESAD-UK 3 52157245 52157247 deletion of <=200bp TCC - intron_variant ESAD-UK 3 52159000 52159000 single base substitution T C intron_variant ESAD-UK 3 52159419 52159419 single base substitution A G intron_variant ESAD-UK 3 52163691 52163691 single base substitution G A intron_variant ESAD-UK 3 52166859 52166859 single base substitution G A intron_variant ESAD-UK 3 52171685 52171685 single base substitution G T intron_variant ESAD-UK 3 52172488 52172488 single base substitution G A intron_variant ESAD-UK 3 52174973 52174973 single base substitution A G intron_variant ESAD-UK 3 52176702 52176702 single base substitution G A intron_variant ESAD-UK 3 52177751 52177751 single base substitution G A intron_variant ESAD-UK 3 52177974 52177974 single base substitution G A intron_variant ESAD-UK 3 52187146 52187146 single base substitution T G intron_variant ESAD-UK 3 52189355 52189355 single base substitution G C upstream_gene_variant ESAD-UK 3 52191806 52191807 deletion of <=200bp GT - upstream_gene_variant ESAD-UK 3 52193341 52193341 single base substitution G A upstream_gene_variant ESCA-CN 3 52167773 52167773 single base substitution C G intron_variant ESCA-CN 3 52183312 52183312 single base substitution G A synonymous_variant D123D 369C>T ESCA-CN 3 52183312 52183312 single base substitution G A synonymous_variant D85D 255C>T GBM-US 3 52156395 52156395 single base substitution C T splice_region_variant KIRP-US 3 52181040 52181040 single base substitution C A missense_variant S138I 413G>T KIRP-US 3 52181040 52181040 single base substitution C A missense_variant S176I 527G>T LAML-KR 3 52128349 52128349 single base substitution G A intron_variant LGG-US 3 52159164 52159164 single base substitution C T missense_variant G245R 733G>A LGG-US 3 52159164 52159164 single base substitution C T missense_variant G283R 847G>A LICA-CN 3 52109952 52109952 single base substitution T A missense_variant K344M 1031A>T LICA-CN 3 52109952 52109952 single base substitution T A missense_variant K354M 1061A>T LICA-CN 3 52109952 52109952 single base substitution T A missense_variant K392M 1175A>T LICA-CN 3 52159197 52159197 single base substitution C A stop_gained G234* 700G>T LICA-CN 3 52159197 52159197 single base substitution C A stop_gained G272* 814G>T LICA-CN 3 52183943 52183943 single base substitution T A missense_variant Y17F 50A>T LICA-CN 3 52183943 52183943 single base substitution T A missense_variant Y55F 164A>T LICA-FR 3 52107185 52107185 single base substitution C T downstream_gene_variant LICA-FR 3 52168283 52168283 single base substitution C T intron_variant LICA-FR 3 52169680 52169680 single base substitution G C intron_variant LICA-FR 3 52179882 52179882 single base substitution C A missense_variant R182L 545G>T LICA-FR 3 52179882 52179882 single base substitution C A missense_variant R220L 659G>T LICA-FR 3 52184585 52184585 single base substitution T C intron_variant LICA-FR 3 52189198 52189205 deletion of <=200bp GAGGGAGT - upstream_gene_variant LIHC-US 3 52179895 52179895 single base substitution C T missense_variant V178M 532G>A LIHC-US 3 52179895 52179895 single base substitution C T missense_variant V216M 646G>A LINC-JP 3 52105808 52105808 deletion of <=200bp C - downstream_gene_variant LINC-JP 3 52130632 52130632 single base substitution T C intron_variant LINC-JP 3 52130632 52130632 single base substitution T C missense_variant T322A 964A>G LINC-JP 3 52130632 52130632 single base substitution T C missense_variant T360A 1078A>G LINC-JP 3 52130833 52130833 single base substitution T G intron_variant LINC-JP 3 52145535 52145535 single base substitution T G intron_variant LINC-JP 3 52151316 52151316 single base substitution C T intron_variant LINC-JP 3 52151927 52151927 single base substitution T G intron_variant LINC-JP 3 52159920 52159920 single base substitution G A intron_variant LINC-JP 3 52178915 52178915 single base substitution C A intron_variant LINC-JP 3 52179074 52179074 single base substitution C A intron_variant LINC-JP 3 52190657 52190657 single base substitution G A upstream_gene_variant LIRI-JP 3 52105122 52105122 single base substitution C A downstream_gene_variant LIRI-JP 3 52105450 52105450 single base substitution C A downstream_gene_variant LIRI-JP 3 52106902 52106902 single base substitution G A downstream_gene_variant LIRI-JP 3 52111476 52111476 single base substitution G A intron_variant LIRI-JP 3 52114938 52114938 single base substitution G A intron_variant LIRI-JP 3 52115279 52115279 single base substitution C T intron_variant LIRI-JP 3 52117292 52117292 single base substitution T G intron_variant LIRI-JP 3 52118257 52118257 single base substitution A T intron_variant LIRI-JP 3 52121499 52121499 single base substitution C T intron_variant LIRI-JP 3 52128167 52128167 single base substitution A G intron_variant LIRI-JP 3 52130550 52130550 single base substitution G A intron_variant LIRI-JP 3 52133139 52133139 single base substitution A C intron_variant LIRI-JP 3 52135310 52135310 single base substitution C T intron_variant LIRI-JP 3 52136846 52136846 single base substitution C A intron_variant LIRI-JP 3 52137289 52137289 single base substitution T C intron_variant LIRI-JP 3 52137385 52137385 single base substitution T C intron_variant LIRI-JP 3 52138240 52138240 single base substitution T A intron_variant LIRI-JP 3 52139076 52139076 single base substitution G A intron_variant LIRI-JP 3 52143075 52143075 single base substitution T C intron_variant LIRI-JP 3 52144454 52144454 single base substitution G T intron_variant LIRI-JP 3 52148262 52148262 single base substitution T G intron_variant LIRI-JP 3 52148483 52148483 single base substitution T C intron_variant LIRI-JP 3 52148847 52148847 single base substitution T C intron_variant LIRI-JP 3 52151172 52151172 single base substitution C A intron_variant LIRI-JP 3 52152559 52152559 single base substitution G A intron_variant LIRI-JP 3 52153642 52153642 single base substitution G A intron_variant LIRI-JP 3 52154635 52154635 single base substitution T C intron_variant LIRI-JP 3 52156043 52156043 single base substitution C T intron_variant LIRI-JP 3 52156104 52156104 single base substitution T G intron_variant LIRI-JP 3 52159921 52159921 single base substitution G A intron_variant LIRI-JP 3 52168519 52168519 single base substitution G A intron_variant LIRI-JP 3 52170039 52170039 single base substitution T C intron_variant LIRI-JP 3 52170405 52170405 single base substitution C A intron_variant LIRI-JP 3 52171882 52171882 single base substitution C A intron_variant LIRI-JP 3 52172490 52172490 single base substitution G A intron_variant LIRI-JP 3 52177407 52177407 single base substitution C A intron_variant LIRI-JP 3 52179833 52179833 single base substitution T A intron_variant LIRI-JP 3 52182671 52182671 single base substitution C A intron_variant LIRI-JP 3 52184171 52184171 single base substitution C G intron_variant LIRI-JP 3 52185967 52185967 single base substitution T C intron_variant LUSC-KR 3 52109564 52109564 single base substitution G A 3_prime_UTR_variant LUSC-KR 3 52109668 52109668 single base substitution C T 3_prime_UTR_variant LUSC-KR 3 52123182 52123182 single base substitution C A intron_variant LUSC-KR 3 52123544 52123544 single base substitution C T intron_variant LUSC-KR 3 52123545 52123545 single base substitution C A intron_variant LUSC-KR 3 52124131 52124131 single base substitution C A intron_variant LUSC-KR 3 52134329 52134329 single base substitution G C intron_variant LUSC-KR 3 52142185 52142185 single base substitution A C intron_variant LUSC-KR 3 52157581 52157581 single base substitution C A intron_variant LUSC-KR 3 52174763 52174763 single base substitution C G intron_variant LUSC-KR 3 52181964 52181964 single base substitution T A intron_variant LUSC-KR 3 52192273 52192273 single base substitution G T upstream_gene_variant MALY-DE 3 52130705 52130705 single base substitution G A intron_variant MALY-DE 3 52130705 52130705 single base substitution G A synonymous_variant P297P 891C>T MALY-DE 3 52130705 52130705 single base substitution G A synonymous_variant P335P 1005C>T MALY-DE 3 52140374 52140374 single base substitution G T intron_variant MALY-DE 3 52141595 52141595 single base substitution A C intron_variant MALY-DE 3 52143811 52143811 single base substitution T C intron_variant MALY-DE 3 52148049 52148049 single base substitution T C intron_variant MALY-DE 3 52151403 52151403 single base substitution A T intron_variant MALY-DE 3 52159288 52159288 single base substitution A T intron_variant MALY-DE 3 52168851 52168851 single base substitution A G intron_variant MALY-DE 3 52169225 52169225 single base substitution C A intron_variant MALY-DE 3 52172195 52172195 single base substitution T C missense_variant H230R 689A>G MALY-DE 3 52172195 52172195 single base substitution T C missense_variant H268R 803A>G MALY-DE 3 52176644 52176644 single base substitution G T intron_variant MALY-DE 3 52184975 52184975 single base substitution A T intron_variant MALY-DE 3 52190093 52190093 single base substitution G A upstream_gene_variant MELA-AU 3 52104437 52104437 single base substitution C T downstream_gene_variant MELA-AU 3 52104782 52104782 single base substitution C T downstream_gene_variant MELA-AU 3 52105754 52105754 single base substitution T A downstream_gene_variant MELA-AU 3 52106786 52106786 single base substitution G A downstream_gene_variant MELA-AU 3 52107581 52107581 single base substitution G A downstream_gene_variant MELA-AU 3 52108339 52108339 single base substitution G A downstream_gene_variant MELA-AU 3 52108677 52108677 single base substitution G A downstream_gene_variant MELA-AU 3 52108784 52108784 single base substitution G A downstream_gene_variant MELA-AU 3 52108870 52108871 multiple base substitution (>=2bp and <=200bp) GA AT downstream_gene_variant MELA-AU 3 52109144 52109144 single base substitution G A downstream_gene_variant MELA-AU 3 52109210 52109210 single base substitution G A downstream_gene_variant MELA-AU 3 52110577 52110577 single base substitution G A intron_variant MELA-AU 3 52110590 52110590 single base substitution G A intron_variant MELA-AU 3 52110940 52110940 single base substitution G A intron_variant MELA-AU 3 52111750 52111750 single base substitution C T intron_variant MELA-AU 3 52112512 52112512 single base substitution G A intron_variant MELA-AU 3 52112742 52112742 single base substitution C T intron_variant MELA-AU 3 52112773 52112773 single base substitution C T intron_variant MELA-AU 3 52113069 52113069 single base substitution G A intron_variant MELA-AU 3 52113319 52113319 single base substitution C G intron_variant MELA-AU 3 52113361 52113361 single base substitution G A intron_variant MELA-AU 3 52113499 52113499 single base substitution G A intron_variant MELA-AU 3 52113822 52113822 single base substitution A G intron_variant MELA-AU 3 52114077 52114077 single base substitution G A intron_variant MELA-AU 3 52114267 52114267 single base substitution G A intron_variant MELA-AU 3 52115099 52115099 single base substitution G C intron_variant MELA-AU 3 52115101 52115101 single base substitution A G intron_variant MELA-AU 3 52115159 52115159 single base substitution G T intron_variant MELA-AU 3 52115523 52115523 single base substitution G A intron_variant MELA-AU 3 52115524 52115524 single base substitution G A intron_variant MELA-AU 3 52115604 52115604 single base substitution G A intron_variant MELA-AU 3 52115713 52115713 single base substitution A C intron_variant MELA-AU 3 52115842 52115842 single base substitution G A intron_variant MELA-AU 3 52115872 52115872 single base substitution G A intron_variant MELA-AU 3 52116383 52116383 single base substitution G A intron_variant MELA-AU 3 52116785 52116785 single base substitution G A intron_variant MELA-AU 3 52116980 52116980 single base substitution G A intron_variant MELA-AU 3 52117076 52117076 single base substitution G A intron_variant MELA-AU 3 52117115 52117115 single base substitution G A intron_variant MELA-AU 3 52117507 52117507 single base substitution G A intron_variant MELA-AU 3 52118001 52118001 single base substitution G A intron_variant MELA-AU 3 52118007 52118007 single base substitution G A intron_variant MELA-AU 3 52118603 52118603 single base substitution G A intron_variant MELA-AU 3 52120557 52120557 single base substitution C T intron_variant MELA-AU 3 52120972 52120972 single base substitution G A intron_variant MELA-AU 3 52120983 52120984 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 52121163 52121163 single base substitution G A intron_variant MELA-AU 3 52121648 52121649 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 52121789 52121789 single base substitution G A intron_variant MELA-AU 3 52122215 52122215 single base substitution G A intron_variant MELA-AU 3 52122577 52122577 single base substitution C A intron_variant MELA-AU 3 52123432 52123432 single base substitution G A intron_variant MELA-AU 3 52123835 52123835 single base substitution G A intron_variant MELA-AU 3 52124699 52124699 single base substitution A C intron_variant MELA-AU 3 52124863 52124863 single base substitution G A intron_variant MELA-AU 3 52125895 52125895 single base substitution C T intron_variant MELA-AU 3 52125907 52125907 single base substitution G A intron_variant MELA-AU 3 52126114 52126114 single base substitution G A intron_variant MELA-AU 3 52126446 52126447 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 52127581 52127581 single base substitution G A intron_variant MELA-AU 3 52128298 52128298 single base substitution G A intron_variant MELA-AU 3 52128383 52128383 single base substitution G A intron_variant MELA-AU 3 52128584 52128584 single base substitution G A intron_variant MELA-AU 3 52129291 52129291 single base substitution G A intron_variant MELA-AU 3 52130149 52130149 single base substitution G A intron_variant MELA-AU 3 52130161 52130161 single base substitution G T intron_variant MELA-AU 3 52130415 52130415 single base substitution G A intron_variant MELA-AU 3 52130448 52130448 single base substitution A T intron_variant MELA-AU 3 52130706 52130706 single base substitution G A intron_variant MELA-AU 3 52130706 52130706 single base substitution G A missense_variant P297L 890C>T MELA-AU 3 52130706 52130706 single base substitution G A missense_variant P335L 1004C>T MELA-AU 3 52131107 52131107 single base substitution G A intron_variant MELA-AU 3 52131268 52131268 single base substitution G A intron_variant MELA-AU 3 52131634 52131634 single base substitution G A intron_variant MELA-AU 3 52131707 52131707 single base substitution T G intron_variant MELA-AU 3 52131835 52131835 single base substitution C T intron_variant MELA-AU 3 52131951 52131951 single base substitution G A intron_variant MELA-AU 3 52132418 52132418 single base substitution C T intron_variant MELA-AU 3 52132494 52132494 single base substitution G A intron_variant MELA-AU 3 52132661 52132661 single base substitution G A intron_variant MELA-AU 3 52132893 52132893 single base substitution G A intron_variant MELA-AU 3 52133537 52133537 single base substitution G A intron_variant MELA-AU 3 52134087 52134087 single base substitution G A intron_variant MELA-AU 3 52134188 52134188 single base substitution G A intron_variant MELA-AU 3 52134239 52134239 single base substitution A G intron_variant MELA-AU 3 52134851 52134851 single base substitution G A intron_variant MELA-AU 3 52134860 52134860 single base substitution G A intron_variant MELA-AU 3 52135463 52135463 single base substitution G A intron_variant MELA-AU 3 52135556 52135556 single base substitution G A intron_variant MELA-AU 3 52136198 52136198 single base substitution G A intron_variant MELA-AU 3 52136383 52136383 single base substitution G A intron_variant MELA-AU 3 52136399 52136399 single base substitution C T intron_variant MELA-AU 3 52136510 52136510 single base substitution C T intron_variant MELA-AU 3 52136964 52136964 single base substitution G A intron_variant MELA-AU 3 52137253 52137253 single base substitution A T intron_variant MELA-AU 3 52137267 52137267 single base substitution G A intron_variant MELA-AU 3 52137794 52137794 single base substitution A G intron_variant MELA-AU 3 52137874 52137874 single base substitution G A intron_variant MELA-AU 3 52138101 52138101 single base substitution G C intron_variant MELA-AU 3 52138433 52138433 single base substitution T G intron_variant MELA-AU 3 52138534 52138534 single base substitution A G intron_variant MELA-AU 3 52139132 52139132 single base substitution G A intron_variant MELA-AU 3 52139826 52139827 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 52139845 52139845 single base substitution G A intron_variant MELA-AU 3 52140042 52140042 single base substitution C T intron_variant MELA-AU 3 52140591 52140591 single base substitution G A intron_variant MELA-AU 3 52140611 52140611 single base substitution C T intron_variant MELA-AU 3 52140654 52140654 single base substitution G A intron_variant MELA-AU 3 52141182 52141182 single base substitution G A intron_variant MELA-AU 3 52141358 52141358 single base substitution G A intron_variant MELA-AU 3 52141367 52141368 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 52141371 52141372 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 52142797 52142798 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 52142821 52142821 single base substitution G A intron_variant MELA-AU 3 52142821 52142822 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 52143109 52143109 single base substitution C T intron_variant MELA-AU 3 52143299 52143299 single base substitution G A intron_variant MELA-AU 3 52143888 52143888 single base substitution C T intron_variant MELA-AU 3 52145946 52145946 single base substitution G A intron_variant MELA-AU 3 52146142 52146142 single base substitution G A intron_variant MELA-AU 3 52146654 52146654 single base substitution T C intron_variant MELA-AU 3 52147156 52147156 single base substitution C T intron_variant MELA-AU 3 52147390 52147390 single base substitution G A intron_variant MELA-AU 3 52147672 52147672 single base substitution C T intron_variant MELA-AU 3 52147827 52147827 single base substitution G A intron_variant MELA-AU 3 52148028 52148028 single base substitution G A intron_variant MELA-AU 3 52148364 52148364 single base substitution G A intron_variant MELA-AU 3 52148720 52148720 single base substitution G A intron_variant MELA-AU 3 52148770 52148770 single base substitution C T intron_variant MELA-AU 3 52148771 52148771 single base substitution C T intron_variant MELA-AU 3 52148782 52148782 single base substitution G A intron_variant MELA-AU 3 52148833 52148833 single base substitution G A intron_variant MELA-AU 3 52150073 52150073 single base substitution G A intron_variant MELA-AU 3 52150084 52150085 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 52150477 52150477 single base substitution C T intron_variant MELA-AU 3 52151637 52151637 single base substitution A G intron_variant MELA-AU 3 52151736 52151736 single base substitution A C intron_variant MELA-AU 3 52153423 52153423 single base substitution T G intron_variant MELA-AU 3 52153553 52153553 single base substitution G A intron_variant MELA-AU 3 52153601 52153601 single base substitution G A intron_variant MELA-AU 3 52154181 52154181 single base substitution T G intron_variant MELA-AU 3 52155090 52155090 single base substitution G A intron_variant MELA-AU 3 52155702 52155702 single base substitution G A intron_variant MELA-AU 3 52156156 52156156 single base substitution G A intron_variant MELA-AU 3 52157802 52157802 single base substitution G A intron_variant MELA-AU 3 52158037 52158037 single base substitution G A intron_variant MELA-AU 3 52158262 52158262 single base substitution G A intron_variant MELA-AU 3 52158378 52158378 single base substitution G A intron_variant MELA-AU 3 52158448 52158448 single base substitution G A intron_variant MELA-AU 3 52158706 52158706 single base substitution G A intron_variant MELA-AU 3 52158737 52158737 single base substitution G A intron_variant MELA-AU 3 52158762 52158762 single base substitution C T intron_variant MELA-AU 3 52158895 52158895 single base substitution G A intron_variant MELA-AU 3 52159241 52159242 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 3 52159523 52159523 single base substitution A G intron_variant MELA-AU 3 52159621 52159622 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 52159656 52159656 single base substitution G A intron_variant MELA-AU 3 52160318 52160318 single base substitution A G intron_variant MELA-AU 3 52160490 52160490 single base substitution G A intron_variant MELA-AU 3 52160777 52160777 single base substitution G A intron_variant MELA-AU 3 52161272 52161272 single base substitution G A intron_variant MELA-AU 3 52161637 52161637 single base substitution C T intron_variant MELA-AU 3 52162062 52162062 single base substitution A G intron_variant MELA-AU 3 52162273 52162273 single base substitution G A intron_variant MELA-AU 3 52163590 52163590 single base substitution G A intron_variant MELA-AU 3 52163668 52163668 single base substitution G A intron_variant MELA-AU 3 52163734 52163734 single base substitution G A intron_variant MELA-AU 3 52164021 52164021 single base substitution G A intron_variant MELA-AU 3 52165041 52165041 single base substitution G A intron_variant MELA-AU 3 52165702 52165702 single base substitution G A intron_variant MELA-AU 3 52165793 52165793 single base substitution G A intron_variant MELA-AU 3 52166085 52166085 single base substitution G A intron_variant MELA-AU 3 52166125 52166125 single base substitution G A intron_variant MELA-AU 3 52166323 52166323 single base substitution G A intron_variant MELA-AU 3 52166510 52166510 single base substitution G A intron_variant MELA-AU 3 52166965 52166966 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 52167346 52167346 single base substitution G A intron_variant MELA-AU 3 52167812 52167812 single base substitution G A intron_variant MELA-AU 3 52168218 52168218 single base substitution G A intron_variant MELA-AU 3 52168977 52168977 single base substitution G A intron_variant MELA-AU 3 52169033 52169033 single base substitution G A intron_variant MELA-AU 3 52169079 52169079 single base substitution A G intron_variant MELA-AU 3 52169115 52169115 single base substitution G A intron_variant MELA-AU 3 52169226 52169226 single base substitution G A intron_variant MELA-AU 3 52169236 52169236 single base substitution C T intron_variant MELA-AU 3 52169731 52169732 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 52170103 52170103 single base substitution A G intron_variant MELA-AU 3 52170187 52170187 single base substitution G A intron_variant MELA-AU 3 52170326 52170326 single base substitution T G intron_variant MELA-AU 3 52170969 52170969 single base substitution G A intron_variant MELA-AU 3 52171898 52171898 single base substitution G A intron_variant MELA-AU 3 52171928 52171928 single base substitution C T intron_variant MELA-AU 3 52172078 52172078 single base substitution C T intron_variant MELA-AU 3 52172504 52172504 single base substitution G A intron_variant MELA-AU 3 52173235 52173235 single base substitution A G intron_variant MELA-AU 3 52173508 52173508 single base substitution G A intron_variant MELA-AU 3 52173790 52173790 single base substitution A G intron_variant MELA-AU 3 52173853 52173853 single base substitution G A intron_variant MELA-AU 3 52173986 52173986 single base substitution G A intron_variant MELA-AU 3 52174242 52174242 single base substitution G A intron_variant MELA-AU 3 52174333 52174333 single base substitution C T intron_variant MELA-AU 3 52174359 52174359 single base substitution G A intron_variant MELA-AU 3 52174392 52174392 single base substitution G T intron_variant MELA-AU 3 52174823 52174823 single base substitution G A intron_variant MELA-AU 3 52174828 52174828 single base substitution G A intron_variant MELA-AU 3 52175447 52175447 single base substitution G A intron_variant MELA-AU 3 52175495 52175495 single base substitution A C intron_variant MELA-AU 3 52176030 52176030 single base substitution G A intron_variant MELA-AU 3 52176197 52176197 single base substitution G A intron_variant MELA-AU 3 52176738 52176738 single base substitution G A intron_variant MELA-AU 3 52176971 52176971 single base substitution G A intron_variant MELA-AU 3 52177155 52177155 single base substitution A G intron_variant MELA-AU 3 52177426 52177426 single base substitution C T intron_variant MELA-AU 3 52177471 52177471 single base substitution C T intron_variant MELA-AU 3 52178450 52178450 single base substitution G A intron_variant MELA-AU 3 52178931 52178931 single base substitution C T intron_variant MELA-AU 3 52179479 52179479 single base substitution G A intron_variant MELA-AU 3 52179491 52179491 single base substitution A G intron_variant MELA-AU 3 52179507 52179507 single base substitution G A intron_variant MELA-AU 3 52179629 52179629 single base substitution A G intron_variant MELA-AU 3 52179985 52179985 single base substitution G A splice_region_variant MELA-AU 3 52180092 52180092 single base substitution C A intron_variant MELA-AU 3 52180172 52180172 single base substitution C T intron_variant MELA-AU 3 52181560 52181560 single base substitution C T intron_variant MELA-AU 3 52182151 52182151 single base substitution G A intron_variant MELA-AU 3 52182526 52182526 single base substitution A G intron_variant MELA-AU 3 52182579 52182579 single base substitution G A intron_variant MELA-AU 3 52182829 52182829 single base substitution C T intron_variant MELA-AU 3 52182877 52182877 single base substitution G A intron_variant MELA-AU 3 52183092 52183092 single base substitution G A intron_variant MELA-AU 3 52183189 52183189 single base substitution G A intron_variant MELA-AU 3 52183993 52183993 single base substitution G A 5_prime_UTR_variant MELA-AU 3 52183993 52183993 single base substitution G A synonymous_variant S38S 114C>T MELA-AU 3 52184230 52184230 single base substitution G A intron_variant MELA-AU 3 52184383 52184383 single base substitution G A intron_variant MELA-AU 3 52184561 52184561 single base substitution G A intron_variant MELA-AU 3 52185604 52185604 single base substitution G A intron_variant MELA-AU 3 52186417 52186417 single base substitution C T intron_variant MELA-AU 3 52186515 52186516 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 52186606 52186606 single base substitution A G intron_variant MELA-AU 3 52186688 52186688 single base substitution G A intron_variant MELA-AU 3 52187069 52187069 single base substitution G A intron_variant MELA-AU 3 52187116 52187116 single base substitution G A intron_variant MELA-AU 3 52188142 52188142 single base substitution G A intron_variant MELA-AU 3 52188894 52188894 single base substitution G A upstream_gene_variant MELA-AU 3 52189859 52189859 single base substitution C T upstream_gene_variant MELA-AU 3 52190282 52190282 single base substitution G A upstream_gene_variant MELA-AU 3 52190582 52190582 single base substitution G A upstream_gene_variant MELA-AU 3 52190787 52190787 single base substitution A T upstream_gene_variant MELA-AU 3 52190860 52190860 single base substitution G A upstream_gene_variant MELA-AU 3 52191348 52191348 single base substitution G A upstream_gene_variant MELA-AU 3 52191695 52191695 single base substitution C T upstream_gene_variant MELA-AU 3 52191805 52191805 single base substitution G T upstream_gene_variant MELA-AU 3 52192143 52192143 single base substitution G A upstream_gene_variant MELA-AU 3 52192293 52192293 single base substitution C T upstream_gene_variant MELA-AU 3 52192873 52192873 single base substitution A G upstream_gene_variant MELA-AU 3 52192911 52192911 single base substitution C T upstream_gene_variant MELA-AU 3 52193115 52193115 single base substitution C T upstream_gene_variant MELA-AU 3 52193132 52193132 single base substitution G C upstream_gene_variant MELA-AU 3 52193306 52193306 single base substitution C T upstream_gene_variant MELA-AU 3 52193671 52193671 single base substitution C T upstream_gene_variant ORCA-IN 3 52122036 52122036 single base substitution C A intron_variant ORCA-IN 3 52129643 52129643 single base substitution G T intron_variant ORCA-IN 3 52140219 52140219 deletion of <=200bp G - intron_variant OV-AU 3 52106743 52106743 single base substitution C G downstream_gene_variant OV-AU 3 52106947 52106947 single base substitution G A downstream_gene_variant OV-AU 3 52109218 52109218 single base substitution G A downstream_gene_variant OV-AU 3 52110385 52110385 single base substitution G A intron_variant OV-AU 3 52114858 52114858 single base substitution T A intron_variant OV-AU 3 52114991 52114991 single base substitution T A intron_variant OV-AU 3 52125092 52125092 single base substitution C T intron_variant OV-AU 3 52129033 52129033 single base substitution T A intron_variant OV-AU 3 52130091 52130091 single base substitution G C intron_variant OV-AU 3 52132013 52132013 single base substitution A T intron_variant OV-AU 3 52141081 52141081 single base substitution G C intron_variant OV-AU 3 52141090 52141090 single base substitution G A intron_variant OV-AU 3 52144350 52144350 single base substitution C G intron_variant OV-AU 3 52149057 52149057 single base substitution G A intron_variant OV-AU 3 52158214 52158214 single base substitution G C intron_variant OV-AU 3 52158309 52158309 single base substitution C T intron_variant OV-AU 3 52159534 52159534 single base substitution G A intron_variant OV-AU 3 52166360 52166360 single base substitution G A intron_variant OV-AU 3 52167655 52167655 single base substitution G T intron_variant OV-AU 3 52170822 52170822 single base substitution C A intron_variant OV-AU 3 52182740 52182740 single base substitution T A intron_variant OV-AU 3 52184538 52184538 single base substitution G T intron_variant OV-AU 3 52186511 52186511 single base substitution A G intron_variant OV-AU 3 52191659 52191659 single base substitution C A upstream_gene_variant OV-AU 3 52192111 52192111 single base substitution C T upstream_gene_variant OV-AU 3 52192151 52192151 single base substitution G T upstream_gene_variant PACA-AU 3 52107418 52107418 single base substitution G A downstream_gene_variant PACA-AU 3 52111879 52111879 single base substitution C T intron_variant PACA-AU 3 52136127 52136127 insertion of <=200bp - T intron_variant PACA-AU 3 52142726 52142726 single base substitution A C intron_variant PACA-AU 3 52142910 52142910 deletion of <=200bp C - intron_variant PACA-AU 3 52144952 52144952 single base substitution G A intron_variant PACA-AU 3 52146909 52146909 single base substitution T A intron_variant PACA-AU 3 52149135 52149135 single base substitution G A intron_variant PACA-AU 3 52155837 52155837 single base substitution T C intron_variant PACA-AU 3 52159881 52159881 single base substitution G A intron_variant PACA-AU 3 52164890 52164890 single base substitution C T intron_variant PACA-AU 3 52178130 52178130 deletion of <=200bp C - intron_variant PACA-AU 3 52180454 52180454 single base substitution G C intron_variant PACA-AU 3 52182643 52182643 single base substitution C G intron_variant PACA-AU 3 52185085 52185085 single base substitution C T 5_prime_UTR_variant PACA-AU 3 52185085 52185085 single base substitution C T missense_variant G17D 50G>A PACA-AU 3 52186554 52186554 single base substitution C T intron_variant PACA-AU 3 52186819 52186819 single base substitution C T intron_variant PACA-AU 3 52188201 52188201 single base substitution G A intron_variant PACA-AU 3 52191806 52191806 insertion of <=200bp - GT upstream_gene_variant PACA-CA 3 52109469 52109469 single base substitution G A 3_prime_UTR_variant PACA-CA 3 52109469 52109469 single base substitution G A downstream_gene_variant PACA-CA 3 52111774 52111774 single base substitution A C intron_variant PACA-CA 3 52112502 52112502 single base substitution G T intron_variant PACA-CA 3 52112806 52112806 single base substitution C T intron_variant PACA-CA 3 52122538 52122538 single base substitution C G intron_variant PACA-CA 3 52137566 52137566 single base substitution A C intron_variant PACA-CA 3 52142533 52142533 single base substitution C T intron_variant PACA-CA 3 52142938 52142938 single base substitution G A intron_variant PACA-CA 3 52143803 52143803 insertion of <=200bp - T intron_variant PACA-CA 3 52146818 52146818 single base substitution C A intron_variant PACA-CA 3 52158928 52158928 single base substitution G T intron_variant PACA-CA 3 52162168 52162168 single base substitution T G intron_variant PACA-CA 3 52169189 52169189 single base substitution G A intron_variant PACA-CA 3 52182730 52182730 single base substitution C T intron_variant PACA-CA 3 52190918 52190918 single base substitution G T upstream_gene_variant PAEN-AU 3 52149524 52149524 single base substitution A T intron_variant PAEN-IT 3 52125905 52125905 single base substitution G T intron_variant PAEN-IT 3 52133192 52133192 single base substitution C T intron_variant PAEN-IT 3 52163583 52163583 single base substitution G C intron_variant PBCA-DE 3 52126353 52126353 single base substitution G A intron_variant PBCA-DE 3 52146503 52146503 insertion of <=200bp - A intron_variant PBCA-DE 3 52146644 52146644 single base substitution C A intron_variant PBCA-DE 3 52157603 52157603 single base substitution G T intron_variant PBCA-DE 3 52162834 52162834 insertion of <=200bp - T intron_variant PBCA-DE 3 52173641 52173641 single base substitution G A intron_variant PBCA-DE 3 52176635 52176635 single base substitution C T intron_variant PBCA-DE 3 52181631 52181631 single base substitution A G intron_variant PBCA-DE 3 52191806 52191807 deletion of <=200bp GT - upstream_gene_variant PRAD-CA 3 52143165 52143165 single base substitution C G intron_variant PRAD-CA 3 52152989 52152989 single base substitution A T intron_variant PRAD-CA 3 52158685 52158685 single base substitution G C intron_variant PRAD-CA 3 52160452 52160452 single base substitution C T intron_variant PRAD-UK 3 52104482 52104482 single base substitution G T downstream_gene_variant PRAD-UK 3 52137858 52137858 single base substitution G A intron_variant PRAD-UK 3 52145495 52145495 single base substitution T C intron_variant PRAD-UK 3 52172889 52172889 single base substitution G A intron_variant PRAD-UK 3 52179185 52179185 single base substitution G A intron_variant RECA-EU 3 52109686 52109686 single base substitution T G 3_prime_UTR_variant RECA-EU 3 52126916 52126916 single base substitution T G intron_variant RECA-EU 3 52142249 52142249 single base substitution A G intron_variant RECA-EU 3 52145669 52145669 single base substitution A T intron_variant RECA-EU 3 52157177 52157177 single base substitution A T intron_variant RECA-EU 3 52159571 52159571 single base substitution A T intron_variant RECA-EU 3 52177780 52177780 single base substitution C G intron_variant SKCA-BR 3 52106828 52106828 single base substitution G A downstream_gene_variant SKCA-BR 3 52113672 52113672 single base substitution G A intron_variant SKCA-BR 3 52115307 52115307 single base substitution G A intron_variant SKCA-BR 3 52115890 52115890 single base substitution G A intron_variant SKCA-BR 3 52121307 52121307 single base substitution C T intron_variant SKCA-BR 3 52123235 52123235 single base substitution T C intron_variant SKCA-BR 3 52124347 52124347 single base substitution G A intron_variant SKCA-BR 3 52126432 52126432 single base substitution G A intron_variant SKCA-BR 3 52126950 52126950 single base substitution G A intron_variant SKCA-BR 3 52129819 52129819 single base substitution C T intron_variant SKCA-BR 3 52131276 52131276 single base substitution T G intron_variant SKCA-BR 3 52131292 52131292 single base substitution T C intron_variant SKCA-BR 3 52131781 52131781 single base substitution G A intron_variant SKCA-BR 3 52135127 52135127 single base substitution T A intron_variant SKCA-BR 3 52144079 52144079 single base substitution C A intron_variant SKCA-BR 3 52144374 52144374 single base substitution G A intron_variant SKCA-BR 3 52144561 52144561 single base substitution G T intron_variant SKCA-BR 3 52144562 52144562 single base substitution C T intron_variant SKCA-BR 3 52145218 52145218 single base substitution G A intron_variant SKCA-BR 3 52146802 52146802 single base substitution C T intron_variant SKCA-BR 3 52147373 52147373 single base substitution A C intron_variant SKCA-BR 3 52147644 52147644 single base substitution G A intron_variant SKCA-BR 3 52148931 52148931 single base substitution G A intron_variant SKCA-BR 3 52151927 52151927 single base substitution T G intron_variant SKCA-BR 3 52153020 52153020 insertion of <=200bp - GTTT intron_variant SKCA-BR 3 52158649 52158649 single base substitution G A intron_variant SKCA-BR 3 52163686 52163686 single base substitution A C intron_variant SKCA-BR 3 52169584 52169584 single base substitution A T intron_variant SKCA-BR 3 52172802 52172802 single base substitution G A intron_variant SKCA-BR 3 52177883 52177883 single base substitution G A intron_variant SKCA-BR 3 52178962 52178962 single base substitution G A intron_variant SKCA-BR 3 52181003 52181003 single base substitution C A splice_donor_variant SKCA-BR 3 52181585 52181585 single base substitution G A intron_variant SKCA-BR 3 52183092 52183092 single base substitution G A intron_variant SKCA-BR 3 52190731 52190731 single base substitution C T upstream_gene_variant SKCA-BR 3 52192722 52192722 single base substitution G A upstream_gene_variant SKCM-US 3 52130706 52130706 single base substitution G A intron_variant SKCM-US 3 52130706 52130706 single base substitution G A missense_variant P297L 890C>T SKCM-US 3 52130706 52130706 single base substitution G A missense_variant P335L 1004C>T SKCM-US 3 52130714 52130714 single base substitution G A intron_variant SKCM-US 3 52130714 52130714 single base substitution G A synonymous_variant F294F 882C>T SKCM-US 3 52130714 52130714 single base substitution G A synonymous_variant F332F 996C>T SKCM-US 3 52183354 52183354 single base substitution G A synonymous_variant V109V 327C>T SKCM-US 3 52183354 52183354 single base substitution G A synonymous_variant V71V 213C>T SKCM-US 3 52185054 52185054 single base substitution G A 5_prime_UTR_variant SKCM-US 3 52185054 52185054 single base substitution G A synonymous_variant F27F 81C>T STAD-US 3 52183326 52183326 single base substitution C T missense_variant V119M 355G>A STAD-US 3 52183326 52183326 single base substitution C T missense_variant V81M 241G>A STAD-US 3 52183364 52183364 single base substitution A G missense_variant V106A 317T>C STAD-US 3 52183364 52183364 single base substitution A G missense_variant V68A 203T>C STAD-US 3 52183949 52183949 single base substitution C T missense_variant R15H 44G>A STAD-US 3 52183949 52183949 single base substitution C T missense_variant R53H 158G>A THCA-SA 3 52159165 52159165 single base substitution C T synonymous_variant T244T 732G>A THCA-SA 3 52159165 52159165 single base substitution C T synonymous_variant T282T 846G>A THCA-SA 3 52172214 52172214 single base substitution G A missense_variant R224W 670C>T THCA-SA 3 52172214 52172214 single base substitution G A missense_variant R262W 784C>T UCEC-US 3 52109939 52109939 single base substitution C A missense_variant E348D 1044G>T UCEC-US 3 52109939 52109939 single base substitution C A missense_variant E358D 1074G>T UCEC-US 3 52109939 52109939 single base substitution C A missense_variant E396D 1188G>T UCEC-US 3 52109995 52109995 single base substitution A C missense_variant S330A 988T>G UCEC-US 3 52109995 52109995 single base substitution A C missense_variant S340A 1018T>G UCEC-US 3 52109995 52109995 single base substitution A C missense_variant S378A 1132T>G UCEC-US 3 52183236 52183236 single base substitution G A missense_variant R111C 331C>T UCEC-US 3 52183236 52183236 single base substitution G A missense_variant R149C 445C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-7-T COSM4509247 c.801C>T p.L267L Substitution - coding silent 3:52138181-52138181 - ESCC_13 COSM5625273 c.563+2T>G p.? Unknown 3:52146986-52146986 - 587284 COSM1221398 c.188C>A p.A63D Substitution - Missense 3:52149903-52149903 - HCC073T COSM5821840 c.814G>T p.G272* Substitution - Nonsense 3:52125181-52125181 - CHEWS001 COSM4584506 c.199G>A p.V67M Substitution - Missense 3:52149892-52149892 - S02287 COSM5685704 c.879A>G p.E293E Substitution - coding silent 3:52125116-52125116 - CHC306T COSM251085 c.659G>T p.R220L Substitution - Missense 3:52145866-52145866 - TCGA-AZ-6598-01 COSM1424344 c.526A>T p.S176C Substitution - Missense 3:52147025-52147025 - TCGA-BL-A3JM-01 COSM1309317 c.604A>G p.I202V Substitution - Missense 3:52145921-52145921 - PTC_441 COSM5957437 c.784C>T p.R262W Substitution - Missense 3:52138198-52138198 - pfg122T COSM4755223 c.285G>C p.E95D Substitution - Missense 3:52149380-52149380 - pfg127T COSM4755222 c.401G>A p.R134H Substitution - Missense 3:52149264-52149264 - pfg181T COSM4755221 c.644A>G p.D215G Substitution - Missense 3:52145881-52145881 - CHC306T COSM251085 c.659G>T p.R220L Substitution - Missense 3:52145866-52145866 - TCGA-G4-6304-01 COSM1424345 c.190G>A p.V64I Substitution - Missense 3:52149901-52149901 - WA42 COSM237998 c.645C>T p.D215D Substitution - coding silent 3:52145880-52145880 - 8069443 COSM1424346 c.50G>A p.G17D Substitution - Missense 3:52151069-52151069 - TCGA-CH-5771-01 COSM1131382 c.884T>G p.V295G Substitution - Missense 3:52122476-52122476 - 35M COSM5582190 c.1220C>T p.P407L Substitution - Missense 3:52075891-52075891 - TCGA-AX-A0J0-01 COSM1046814 c.1132T>G p.S378A Substitution - Missense 3:52075979-52075979 - ESO-0133 COSM1262656 c.849G>A p.G283G Substitution - coding silent 3:52125146-52125146 - TCGA-B9-A44B-01 COSM3993198 c.527G>T p.S176I Substitution - Missense 3:52147024-52147024 - CRC-06T COSM5457061 c.274G>A p.V92I Substitution - Missense 3:52149817-52149817 - TCGA-AB-2912-03 COSM1318655 c.694G>A p.V232M Substitution - Missense 3:52138288-52138288 - TCGA-D3-A51G-06 COSM3595876 c.81C>T p.F27F Substitution - coding silent 3:52151038-52151038 - CSCC-5-T COSM4456081 c.385_386GT>AC p.V129T Substitution - Missense 3:52149279-52149280 - TCGA-AA-3542-01 COSM292116 c.319A>T p.R107W Substitution - Missense 3:52149346-52149346 - TCGA-EE-A2M8-06 COSM3595872 c.996C>T p.F332F Substitution - coding silent 3:52096698-52096698 - ESCC-039T COSM2852565 c.369C>T p.D123D Substitution - coding silent 3:52149296-52149296 - TCGA-D8-A1X5-01 COSM1485360 c.1178A>C p.Q393P Substitution - Missense 3:52075933-52075933 - YUWALI COSM1692811 c.419C>T p.S140F Substitution - Missense 3:52149246-52149246 - TCGA-C5-A1BQ-01 COSM4841761 c.850G>A p.E284K Substitution - Missense 3:52125145-52125145 - 043T COSM1729648 c.739G>T p.A247S Substitution - Missense 3:52138243-52138243 - PTC-10C COSM4158192 c.903C>A p.N301K Substitution - Missense 3:52122457-52122457 - TCGA-DK-A3X1-01 COSM3775216 c.242G>A p.R81Q Substitution - Missense 3:52149849-52149849 - TCGA-D1-A17Q-01 COSM1046813 c.1188G>T p.E396D Substitution - Missense 3:52075923-52075923 - BD228T COSM5508715 c.841_849delAGAACGGGG p.R281_G283delRTG Deletion - In frame 3:52125146-52125154 - TCGA-AA-A010-01 COSM284123 c.980T>G p.L327R Substitution - Missense 3:52122380-52122380 - T204 COSM4716289 c.241C>T p.R81* Substitution - Nonsense 3:52149850-52149850 - CSCC-20-T COSM4501519 c.590C>T p.P197L Substitution - Missense 3:52145935-52145935 - TCGA-A6-5661-01 COSM1424343 c.646G>A p.V216M Substitution - Missense 3:52145879-52145879 - TCGA-CS-4942-01 COSM3974484 c.847G>A p.G283R Substitution - Missense 3:52125148-52125148 - PT38 COSM5922353 c.1121C>T p.T374I Substitution - Missense 3:52096573-52096573 - WA16 COSM241204 c.157C>T p.R53C Substitution - Missense 3:52149934-52149934 - CSCC-11-T COSM4493561 c.417C>T p.F139F Substitution - coding silent 3:52149248-52149248 - TCGA-AX-A060-01 COSM1046817 c.445C>T p.R149C Substitution - Missense 3:52149220-52149220 - TCGA-19-4068-01 COSM3408780 c.981G>A p.L327L Substitution - coding silent 3:52122379-52122379 - T3225 COSM4118944 c.158G>A p.R53H Substitution - Missense 3:52149933-52149933 - ME009T COSM222809 c.817C>T p.P273S Substitution - Missense 3:52125178-52125178 - 587342 COSM1221399 c.571A>G p.T191A Substitution - Missense 3:52145954-52145954 - CSCC-27-T COSM4494572 c.435C>T p.I145I Substitution - coding silent 3:52149230-52149230 - SWE-16 COSM1178951 c.19G>T p.E7* Substitution - Nonsense 3:52151100-52151100 - BD21T COSM5495513 c.456G>T p.K152N Substitution - Missense 3:52147095-52147095 - TCGA-EE-A2MC-06 COSM3595875 c.327C>T p.V109V Substitution - coding silent 3:52149338-52149338 - TCGA-BR-8382-01 COSM4118943 c.317T>C p.V106A Substitution - Missense 3:52149348-52149348 - ESCC_140 COSM5643406 c.118G>A p.D40N Substitution - Missense 3:52149973-52149973 - TCGA-A2-A0T6-01 COSM446797 c.193A>C p.T65P Substitution - Missense 3:52149898-52149898 - 1115154 COSM5564843 c.55C>T p.R19* Substitution - Nonsense 3:52151064-52151064 - TCGA-D9-A6EC-06 COSM4402373 c.1004C>T p.P335L Substitution - Missense 3:52096690-52096690 - TCGA-AA-3663-01 COSM1424342 c.822C>A p.A274A Substitution - coding silent 3:52125173-52125173 - Pat_41_B COSM2852556 c.769G>A p.D257N Substitution - Missense 3:52138213-52138213 - C086 COSM5537386 c.1055C>T p.P352L Substitution - Missense 3:52096639-52096639 - HCC017T COSM5814754 c.1175A>T p.K392M Substitution - Missense 3:52075936-52075936 - TCGA-HU-A4GQ-01 COSM4118942 c.355G>A p.V119M Substitution - Missense 3:52149310-52149310 - TCGA-BR-6452-01 COSM4118944 c.158G>A p.R53H Substitution - Missense 3:52149933-52149933 - HX27T COSM3660637 c.1078A>G p.T360A Substitution - Missense 3:52096616-52096616 - TCGA-G4-6588-01 COSM1424346 c.50G>A p.G17D Substitution - Missense 3:52151069-52151069 - HCC074T COSM5810245 c.164A>T p.Y55F Substitution - Missense 3:52149927-52149927 - TCGA-EP-A2KC-01 COSM1424343 c.646G>A p.V216M Substitution - Missense 3:52145879-52145879 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.476306 3p21.2 614783 2427965|CGAP|BC110877|C/T|coding|Pro50Leu|466|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.S41A c.121T>G 3 52183986 LUAD C A SpliceAcceptorSNV . c.814-1G>T 3 52159198 LUAD C T Missense p.G283R c.847G>A 3 52159164 LGG C T Missense p.V232M c.694G>A 3 52172304 AML C T Synonymous p.G283G c.849G>A 3 52159162 ESCA C T Synonymous p.L327L c.981G>A 3 52156395 GBM C T Synonymous p.S72S c.216G>A 3 52183891 COREAD G A 3-UTRSNV . c.1221+63C>T 3 52109843 CM G A Missense p.P273S c.817C>T 3 52159194 CM G A Missense p.P9L c.26C>T 3 52185109 LUAD G A Missense p.R149C c.445C>T 3 52183236 UCEC G A Missense p.R177W c.529C>T 3 52181038 LUAD G A Synonymous p.F332F c.996C>T 3 52130714 CM G A Synonymous p.V109V c.327C>T 3 52183354 CM GT AA Synonymous p.(=) c.1074_1075delinsTT 3 52130635 CM T A Missense p.R107W c.319A>T 3 52183362 COREAD T C Missense p.I202V c.604A>G 3 52179937 BLCA T G Missense p.Q393P c.1178A>C 3 52109949 BRCA T G Missense p.T65P c.193A>C 3 52183914 BRCA