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 135870901 135870901 + Silent SNP G G A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr3:135870901G>A c.822C>T c.(820-822)ctC>ctT p.L274L BLCA 3 135870978 135870978 + Missense_Mutation SNP T T C TCGA-XF-A9SJ-01A-11D-A391-08 TCGA-XF-A9SJ-10A-01D-A394-08 g.chr3:135870978T>C c.745A>G c.(745-747)Aca>Gca p.T249A BLCA 3 135871463 135871463 + Missense_Mutation SNP T T C TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 g.chr3:135871463T>C c.260A>G c.(259-261)tAt>tGt p.Y87C BLCA 3 135871483 135871483 + Frame_Shift_Del DEL G G - TCGA-4Z-AA7M-01A-11D-A391-08 TCGA-4Z-AA7M-10A-01D-A394-08 g.chr3:135871483delG c.240delC c.(238-240)tccfs p.S80fs BLCA 3 135913868 135913868 + Missense_Mutation SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr3:135913868C>T c.88G>A c.(88-90)Gag>Aag p.E30K BLCA 3 135913931 135913931 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr3:135913931G>A c.25C>T c.(25-27)Ctc>Ttc p.L9F BRCA 3 135870120 135870120 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:135870120C>T c.1603G>A c.(1603-1605)Gct>Act p.A535T BRCA 3 135870742 135870742 + Silent SNP T T A TCGA-EW-A1P4-01A-21D-A142-09 TCGA-EW-A1P4-10A-01D-A142-09 g.chr3:135870742T>A c.981A>T c.(979-981)tcA>tcT p.S327S BRCA 3 135870774 135870774 + Missense_Mutation SNP T T C TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 g.chr3:135870774T>C c.949A>G c.(949-951)Atg>Gtg p.M317V BRCA 3 135871021 135871021 + Silent SNP G G A TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr3:135871021G>A c.702C>T c.(700-702)agC>agT p.S234S BRCA 3 135871094 135871094 + Frame_Shift_Del DEL G G - TCGA-E2-A107-01A-11D-A10M-09 TCGA-E2-A107-10A-01D-A10M-09 g.chr3:135871094delG c.629delC c.(628-630)cctfs p.P210fs BRCA 3 135871199 135871199 + Missense_Mutation SNP G G A TCGA-C8-A12T-01A-11D-A10Y-09 TCGA-C8-A12T-10A-01D-A110-09 g.chr3:135871199G>A c.524C>T c.(523-525)tCt>tTt p.S175F CESC 3 135870318 135870318 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr3:135870318G>C c.1405C>G c.(1405-1407)Caa>Gaa p.Q469E COAD 3 135870002 135870002 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:135870002C>T c.1721G>A c.(1720-1722)aGa>aAa p.R574K COAD 3 135870358 135870358 + Frame_Shift_Del DEL T T - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr3:135870358delT c.1365delA c.(1363-1365)aaafs p.K455fs COAD 3 135870407 135870407 + Missense_Mutation SNP G G T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr3:135870407G>T c.1316C>A c.(1315-1317)cCt>cAt p.P439H COAD 3 135870639 135870639 + Nonsense_Mutation SNP G G A TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr3:135870639G>A c.1084C>T c.(1084-1086)Cga>Tga p.R362* COAD 3 135870850 135870850 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:135870850C>T c.873G>A c.(871-873)caG>caA p.Q291Q COAD 3 135870891 135870891 + Nonsense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:135870891C>A c.832G>T c.(832-834)Gaa>Taa p.E278* COAD 3 135871412 135871412 + Missense_Mutation SNP T T G TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:135871412T>G c.311A>C c.(310-312)aAa>aCa p.K104T COAD 3 135913874 135913874 + Missense_Mutation SNP A A G TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr3:135913874A>G c.82T>C c.(82-84)Ttt>Ctt p.F28L COADREAD 3 135870002 135870002 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:135870002C>T c.1721G>A c.(1720-1722)aGa>aAa p.R574K COADREAD 3 135870358 135870358 + Frame_Shift_Del DEL T T - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr3:135870358delT c.1365delA c.(1363-1365)aaafs p.K455fs COADREAD 3 135870407 135870407 + Missense_Mutation SNP G G T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr3:135870407G>T c.1316C>A c.(1315-1317)cCt>cAt p.P439H COADREAD 3 135870639 135870639 + Nonsense_Mutation SNP G G A TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr3:135870639G>A c.1084C>T c.(1084-1086)Cga>Tga p.R362* COADREAD 3 135870850 135870850 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:135870850C>T c.873G>A c.(871-873)caG>caA p.Q291Q COADREAD 3 135870891 135870891 + Nonsense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:135870891C>A c.832G>T c.(832-834)Gaa>Taa p.E278* COADREAD 3 135870933 135870933 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:135870933C>A c.790G>T c.(790-792)Gac>Tac p.D264Y COADREAD 3 135871147 135871147 + Silent SNP A A G TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chr3:135871147A>G c.576T>C c.(574-576)aaT>aaC p.N192N COADREAD 3 135871412 135871412 + Missense_Mutation SNP T T G TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:135871412T>G c.311A>C c.(310-312)aAa>aCa p.K104T COADREAD 3 135913874 135913874 + Missense_Mutation SNP A A G TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr3:135913874A>G c.82T>C c.(82-84)Ttt>Ctt p.F28L COADREAD 3 135913926 135913926 + Silent SNP G G A TCGA-AG-A00C-01A-01W-A005-10 TCGA-AG-A00C-10A-01W-A005-10 g.chr3:135913926G>A c.30C>T c.(28-30)taC>taT p.Y10Y DLBC 3 135871364 135871364 + Missense_Mutation SNP A A G TCGA-GS-A9TY-01A-11D-A38X-10 TCGA-GS-A9TY-10A-01D-A38X-10 g.chr3:135871364A>G c.359T>C c.(358-360)aTa>aCa p.I120T ESCA 3 135871405 135871405 + Silent SNP T T C TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 g.chr3:135871405T>C c.318A>G c.(316-318)ctA>ctG p.L106L GBM 3 135870091 135870091 + Missense_Mutation SNP A A T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 g.chr3:135870091A>T c.1632T>A c.(1630-1632)agT>agA p.S544R GBMLGG 3 135870091 135870091 + Missense_Mutation SNP A A T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 g.chr3:135870091A>T c.1632T>A c.(1630-1632)agT>agA p.S544R GBMLGG 3 135870463 135870463 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:135870463G>T c.1260C>A c.(1258-1260)caC>caA p.H420Q GBMLGG 3 135871112 135871112 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:135871112C>A c.611G>T c.(610-612)aGa>aTa p.R204I HNSC 3 135870114 135870114 + Missense_Mutation SNP G G A TCGA-CN-A6V7-01A-12D-A34J-08 TCGA-CN-A6V7-10A-01D-A34M-08 g.chr3:135870114G>A c.1609C>T c.(1609-1611)Cgt>Tgt p.R537C HNSC 3 135870279 135870279 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 g.chr3:135870279G>A c.1444C>T c.(1444-1446)Cct>Tct p.P482S HNSC 3 135870295 135870295 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 g.chr3:135870295G>C c.1428C>G c.(1426-1428)tgC>tgG p.C476W HNSC 3 135870380 135870380 + Missense_Mutation SNP G G C TCGA-CR-6491-01A-11D-1870-08 TCGA-CR-6491-10A-01D-1870-08 g.chr3:135870380G>C c.1343C>G c.(1342-1344)cCt>cGt p.P448R HNSC 3 135871283 135871283 + Missense_Mutation SNP G G A TCGA-BB-4223-01A-01D-1434-08 TCGA-BB-4223-10A-01D-1434-08 g.chr3:135871283G>A c.440C>T c.(439-441)tCa>tTa p.S147L HNSC 3 135871452 135871452 + Missense_Mutation SNP C C G TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 g.chr3:135871452C>G c.271G>C c.(271-273)Gag>Cag p.E91Q KIPAN 3 135870914 135870914 + Missense_Mutation SNP A A G TCGA-IA-A83W-01A-11D-A34Z-10 TCGA-IA-A83W-11A-11D-A34Z-10 g.chr3:135870914A>G c.809T>C c.(808-810)gTt>gCt p.V270A KIPAN 3 135913893 135913893 + Silent SNP G G A TCGA-BP-4964-01A-01D-1462-08 TCGA-BP-4964-11A-01D-1462-08 g.chr3:135913893G>A c.63C>T c.(61-63)gaC>gaT p.D21D KIRC 3 135913893 135913893 + Silent SNP G G A TCGA-BP-4964-01A-01D-1462-08 TCGA-BP-4964-11A-01D-1462-08 g.chr3:135913893G>A c.63C>T c.(61-63)gaC>gaT p.D21D KIRP 3 135870914 135870914 + Missense_Mutation SNP A A G TCGA-IA-A83W-01A-11D-A34Z-10 TCGA-IA-A83W-11A-11D-A34Z-10 g.chr3:135870914A>G c.809T>C c.(808-810)gTt>gCt p.V270A LGG 3 135870463 135870463 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:135870463G>T c.1260C>A c.(1258-1260)caC>caA p.H420Q LGG 3 135871112 135871112 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:135871112C>A c.611G>T c.(610-612)aGa>aTa p.R204I LIHC 3 135870012 135870012 + Missense_Mutation SNP T T C TCGA-DD-AADO-01A-11D-A40R-10 TCGA-DD-AADO-10A-01D-A40U-10 g.chr3:135870012T>C c.1711A>G c.(1711-1713)Ata>Gta p.I571V LUAD 3 135870109 135870109 + Missense_Mutation SNP G G T TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 g.chr3:135870109G>T c.1614C>A c.(1612-1614)aaC>aaA p.N538K LUAD 3 135870369 135870369 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 g.chr3:135870369C>A c.1354G>T c.(1354-1356)Gtg>Ttg p.V452L LUAD 3 135870596 135870596 + Missense_Mutation SNP C C G TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr3:135870596C>G c.1127G>C c.(1126-1128)cGg>cCg p.R376P LUAD 3 135871276 135871276 + Silent SNP T T A TCGA-17-Z010-01A-01W-0746-08 TCGA-17-Z010-11A-01W-0746-08 g.chr3:135871276T>A c.447A>T c.(445-447)tcA>tcT p.S149S LUAD 3 135871362 135871362 + Nonsense_Mutation SNP C C A TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr3:135871362C>A c.361G>T c.(361-363)Gaa>Taa p.E121* LUAD 3 135913854 135913854 + Silent SNP G G C TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr3:135913854G>C c.102C>G c.(100-102)ctC>ctG p.L34L LUSC 3 135870092 135870092 + Missense_Mutation SNP C C A TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr3:135870092C>A c.1631G>T c.(1630-1632)aGt>aTt p.S544I OV 3 135870373 135870373 + Missense_Mutation SNP C C G TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 g.chr3:135870373C>G c.1350G>C c.(1348-1350)aaG>aaC p.K450N PAAD 3 135870542 135870542 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:135870542G>A c.1181C>T c.(1180-1182)aCa>aTa p.T394I PAAD 3 135913815 135913815 + Splice_Site SNP G G A TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 g.chr3:135913815G>A c.141C>T c.(139-141)tgC>tgT p.C47C PRAD 3 135870947 135870947 + Missense_Mutation SNP T T A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 g.chr3:135870947T>A c.776A>T c.(775-777)gAt>gTt p.D259V PRAD 3 135913890 135913890 + Silent SNP G G T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 g.chr3:135913890G>T c.66C>A c.(64-66)ccC>ccA p.P22P READ 3 135870933 135870933 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:135870933C>A c.790G>T c.(790-792)Gac>Tac p.D264Y READ 3 135871147 135871147 + Silent SNP A A G TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chr3:135871147A>G c.576T>C c.(574-576)aaT>aaC p.N192N READ 3 135913926 135913926 + Silent SNP G G A TCGA-AG-A00C-01A-01W-A005-10 TCGA-AG-A00C-10A-01W-A005-10 g.chr3:135913926G>A c.30C>T c.(28-30)taC>taT p.Y10Y SARC 3 135870189 135870189 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 g.chr3:135870189C>T c.1534G>A c.(1534-1536)Gca>Aca p.A512T SKCM 3 135870726 135870726 + Missense_Mutation SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr3:135870726G>A c.997C>T c.(997-999)Ccg>Tcg p.P333S SKCM 3 135870900 135870900 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr3:135870900G>A c.823C>T c.(823-825)Cgc>Tgc p.R275C SKCM 3 135871300 135871300 + Silent SNP C C T TCGA-DA-A3F5-06A-11D-A20D-08 TCGA-DA-A3F5-10A-01D-A20D-08 g.chr3:135871300C>T c.423G>A c.(421-423)gaG>gaA p.E141E

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 3 135863992 135863992 single base substitution C A downstream_gene_variant BLCA-CN 3 135913856 135913856 single base substitution G A intron_variant BLCA-CN 3 135913856 135913856 single base substitution G A missense_variant L34F 100C>T BLCA-CN 3 135913856 135913856 single base substitution G A upstream_gene_variant BLCA-US 3 135913868 135913868 single base substitution C T intron_variant BLCA-US 3 135913868 135913868 single base substitution C T missense_variant E30K 88G>A BLCA-US 3 135913868 135913868 single base substitution C T upstream_gene_variant BLCA-US 3 135913931 135913931 single base substitution G A intron_variant BLCA-US 3 135913931 135913931 single base substitution G A missense_variant L9F 25C>T BLCA-US 3 135913931 135913931 single base substitution G A upstream_gene_variant BOCA-FR 3 135886263 135886263 single base substitution A C intron_variant BRCA-EU 3 135863368 135863368 single base substitution T C downstream_gene_variant BRCA-EU 3 135864058 135864058 single base substitution C G downstream_gene_variant BRCA-EU 3 135864094 135864094 single base substitution T C downstream_gene_variant BRCA-EU 3 135865963 135865963 single base substitution C T downstream_gene_variant BRCA-EU 3 135867020 135867020 single base substitution G C downstream_gene_variant BRCA-EU 3 135868808 135868808 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 135868808 135868808 single base substitution G C downstream_gene_variant BRCA-EU 3 135869030 135869030 insertion of <=200bp - A 3_prime_UTR_variant BRCA-EU 3 135869030 135869030 insertion of <=200bp - A downstream_gene_variant BRCA-EU 3 135869557 135869557 single base substitution T C 3_prime_UTR_variant BRCA-EU 3 135869557 135869557 single base substitution T C downstream_gene_variant BRCA-EU 3 135870269 135870269 single base substitution G C downstream_gene_variant BRCA-EU 3 135870269 135870269 single base substitution G C missense_variant S411C 1232C>G BRCA-EU 3 135870269 135870269 single base substitution G C missense_variant S485C 1454C>G BRCA-EU 3 135871371 135871371 single base substitution C T missense_variant D118N 352G>A BRCA-EU 3 135871371 135871371 single base substitution C T missense_variant D44N 130G>A BRCA-EU 3 135871952 135871952 single base substitution T C intron_variant BRCA-EU 3 135872179 135872179 single base substitution A G intron_variant BRCA-EU 3 135873734 135873734 deletion of <=200bp A - intron_variant BRCA-EU 3 135874749 135874749 single base substitution A T intron_variant BRCA-EU 3 135875371 135875371 deletion of <=200bp A - intron_variant BRCA-EU 3 135875835 135875835 single base substitution T A intron_variant BRCA-EU 3 135877354 135877354 single base substitution T C intron_variant BRCA-EU 3 135877476 135877476 deletion of <=200bp A - intron_variant BRCA-EU 3 135877603 135877603 single base substitution A G intron_variant BRCA-EU 3 135878748 135878748 insertion of <=200bp - A intron_variant BRCA-EU 3 135878780 135878780 single base substitution T C intron_variant BRCA-EU 3 135878862 135878862 single base substitution C T intron_variant BRCA-EU 3 135879453 135879453 single base substitution G A intron_variant BRCA-EU 3 135879897 135879897 single base substitution C A intron_variant BRCA-EU 3 135881117 135881117 single base substitution A T intron_variant BRCA-EU 3 135881411 135881411 single base substitution G C intron_variant BRCA-EU 3 135881506 135881506 single base substitution C T intron_variant BRCA-EU 3 135883150 135883150 single base substitution G C intron_variant BRCA-EU 3 135883901 135883901 single base substitution G A intron_variant BRCA-EU 3 135884050 135884050 single base substitution A C intron_variant BRCA-EU 3 135884598 135884598 single base substitution T G intron_variant BRCA-EU 3 135885308 135885308 single base substitution A G intron_variant BRCA-EU 3 135885907 135885907 insertion of <=200bp - A intron_variant BRCA-EU 3 135886045 135886045 single base substitution G A intron_variant BRCA-EU 3 135886525 135886525 single base substitution A G intron_variant BRCA-EU 3 135887221 135887221 single base substitution T A intron_variant BRCA-EU 3 135887587 135887587 single base substitution G C intron_variant BRCA-EU 3 135888984 135888984 single base substitution G A intron_variant BRCA-EU 3 135889075 135889075 single base substitution A C intron_variant BRCA-EU 3 135889829 135889829 single base substitution A T intron_variant BRCA-EU 3 135890238 135890238 single base substitution G C intron_variant BRCA-EU 3 135890957 135890957 single base substitution T C intron_variant BRCA-EU 3 135891770 135891770 single base substitution C T intron_variant BRCA-EU 3 135892269 135892269 single base substitution G T intron_variant BRCA-EU 3 135892419 135892419 single base substitution C G intron_variant BRCA-EU 3 135894630 135894630 single base substitution T G intron_variant BRCA-EU 3 135895846 135895846 single base substitution C T intron_variant BRCA-EU 3 135898232 135898249 deletion of <=200bp CCAAACTGGTCTTGAACT - intron_variant BRCA-EU 3 135898887 135898887 single base substitution A G intron_variant BRCA-EU 3 135899056 135899056 deletion of <=200bp T - intron_variant BRCA-EU 3 135899272 135899272 single base substitution A C intron_variant BRCA-EU 3 135900444 135900444 single base substitution A T intron_variant BRCA-EU 3 135900445 135900445 single base substitution C G intron_variant BRCA-EU 3 135901240 135901240 single base substitution C G intron_variant BRCA-EU 3 135901353 135901353 single base substitution G A intron_variant BRCA-EU 3 135902258 135902258 single base substitution A C intron_variant BRCA-EU 3 135906273 135906273 single base substitution G C intron_variant BRCA-EU 3 135907828 135907828 single base substitution C G intron_variant BRCA-EU 3 135908495 135908495 single base substitution G C intron_variant BRCA-EU 3 135911533 135911533 single base substitution G T intron_variant BRCA-EU 3 135911999 135911999 deletion of <=200bp T - intron_variant BRCA-EU 3 135911999 135912000 deletion of <=200bp TT - intron_variant BRCA-EU 3 135912612 135912612 single base substitution A G intron_variant BRCA-EU 3 135912852 135912852 deletion of <=200bp T - intron_variant BRCA-EU 3 135913006 135913006 single base substitution G C intron_variant BRCA-EU 3 135913799 135913799 deletion of <=200bp T - intron_variant BRCA-EU 3 135913799 135913799 deletion of <=200bp T - upstream_gene_variant BRCA-EU 3 135914374 135914374 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 3 135914374 135914374 single base substitution G A intron_variant BRCA-EU 3 135914374 135914374 single base substitution G A upstream_gene_variant BRCA-EU 3 135915348 135915348 single base substitution C G intron_variant BRCA-EU 3 135915348 135915348 single base substitution C G upstream_gene_variant BRCA-EU 3 135915521 135915521 single base substitution C T intron_variant BRCA-EU 3 135915521 135915521 single base substitution C T upstream_gene_variant BRCA-EU 3 135915786 135915786 single base substitution G T intron_variant BRCA-EU 3 135915786 135915786 single base substitution G T upstream_gene_variant BRCA-EU 3 135915900 135915900 single base substitution C G intron_variant BRCA-EU 3 135915900 135915900 single base substitution C G upstream_gene_variant BRCA-EU 3 135916180 135916180 single base substitution G C upstream_gene_variant BRCA-EU 3 135916522 135916522 single base substitution T C upstream_gene_variant BRCA-EU 3 135916666 135916666 deletion of <=200bp T - upstream_gene_variant BRCA-EU 3 135917144 135917144 single base substitution T A upstream_gene_variant BRCA-EU 3 135917211 135917211 single base substitution G C upstream_gene_variant BRCA-EU 3 135919427 135919427 single base substitution G T upstream_gene_variant BRCA-EU 3 135919585 135919585 single base substitution C A upstream_gene_variant BRCA-EU 3 135920260 135920260 single base substitution A T upstream_gene_variant BRCA-EU 3 135920529 135920529 single base substitution C G upstream_gene_variant BRCA-EU 3 135920620 135920620 single base substitution C G upstream_gene_variant BRCA-FR 3 135864058 135864058 single base substitution C G downstream_gene_variant BRCA-FR 3 135868808 135868808 single base substitution G C 3_prime_UTR_variant BRCA-FR 3 135868808 135868808 single base substitution G C downstream_gene_variant BRCA-FR 3 135870269 135870269 single base substitution G C downstream_gene_variant BRCA-FR 3 135870269 135870269 single base substitution G C missense_variant S411C 1232C>G BRCA-FR 3 135870269 135870269 single base substitution G C missense_variant S485C 1454C>G BRCA-FR 3 135881811 135881811 single base substitution A G intron_variant BRCA-FR 3 135884598 135884598 single base substitution T G intron_variant BRCA-FR 3 135885308 135885308 single base substitution A G intron_variant BRCA-FR 3 135894106 135894106 single base substitution A C intron_variant BRCA-FR 3 135900444 135900444 single base substitution A T intron_variant BRCA-FR 3 135910670 135910670 single base substitution G A intron_variant BRCA-FR 3 135915348 135915348 single base substitution C G intron_variant BRCA-FR 3 135915348 135915348 single base substitution C G upstream_gene_variant BRCA-FR 3 135915900 135915900 single base substitution C G intron_variant BRCA-FR 3 135915900 135915900 single base substitution C G upstream_gene_variant BRCA-FR 3 135918137 135918137 single base substitution C T upstream_gene_variant BRCA-FR 3 135920260 135920260 single base substitution A T upstream_gene_variant BRCA-UK 3 135875071 135875071 single base substitution G C intron_variant BRCA-UK 3 135906273 135906273 single base substitution G C intron_variant BRCA-US 3 135870120 135870120 single base substitution C T downstream_gene_variant BRCA-US 3 135870120 135870120 single base substitution C T missense_variant A461T 1381G>A BRCA-US 3 135870120 135870120 single base substitution C T missense_variant A535T 1603G>A BRCA-US 3 135870742 135870742 single base substitution T A downstream_gene_variant BRCA-US 3 135870742 135870742 single base substitution T A synonymous_variant S253S 759A>T BRCA-US 3 135870742 135870742 single base substitution T A synonymous_variant S327S 981A>T BRCA-US 3 135870774 135870774 single base substitution T C downstream_gene_variant BRCA-US 3 135870774 135870774 single base substitution T C missense_variant M243V 727A>G BRCA-US 3 135870774 135870774 single base substitution T C missense_variant M317V 949A>G BRCA-US 3 135871021 135871021 single base substitution G A downstream_gene_variant BRCA-US 3 135871021 135871021 single base substitution G A synonymous_variant S160S 480C>T BRCA-US 3 135871021 135871021 single base substitution G A synonymous_variant S234S 702C>T BRCA-US 3 135871094 135871094 deletion of <=200bp G - downstream_gene_variant BRCA-US 3 135871094 135871094 deletion of <=200bp G - frameshift_variant P136 BRCA-US 3 135871094 135871094 deletion of <=200bp G - frameshift_variant P210 BRCA-US 3 135871199 135871199 single base substitution G A downstream_gene_variant BRCA-US 3 135871199 135871199 single base substitution G A missense_variant S101F 302C>T BRCA-US 3 135871199 135871199 single base substitution G A missense_variant S175F 524C>T BTCA-JP 3 135870956 135870956 deletion of <=200bp A - downstream_gene_variant BTCA-JP 3 135870956 135870956 deletion of <=200bp A - frameshift_variant F182 BTCA-JP 3 135870956 135870956 deletion of <=200bp A - frameshift_variant F256 BTCA-JP 3 135871563 135871563 single base substitution G A 5_prime_UTR_variant BTCA-JP 3 135871563 135871563 single base substitution G A missense_variant P54S 160C>T CESC-US 3 135870318 135870318 single base substitution G C downstream_gene_variant CESC-US 3 135870318 135870318 single base substitution G C missense_variant Q395E 1183C>G CESC-US 3 135870318 135870318 single base substitution G C missense_variant Q469E 1405C>G COAD-US 3 135870002 135870002 single base substitution C T downstream_gene_variant COAD-US 3 135870002 135870002 single base substitution C T missense_variant R500K 1499G>A COAD-US 3 135870002 135870002 single base substitution C T missense_variant R574K 1721G>A COAD-US 3 135870850 135870850 single base substitution C T downstream_gene_variant COAD-US 3 135870850 135870850 single base substitution C T synonymous_variant Q217Q 651G>A COAD-US 3 135870850 135870850 single base substitution C T synonymous_variant Q291Q 873G>A COAD-US 3 135870891 135870891 single base substitution C A downstream_gene_variant COAD-US 3 135870891 135870891 single base substitution C A stop_gained E204* 610G>T COAD-US 3 135870891 135870891 single base substitution C A stop_gained E278* 832G>T COAD-US 3 135913953 135913953 single base substitution C A intron_variant COAD-US 3 135913953 135913953 single base substitution C A start_lost M1I 3G>T COAD-US 3 135913953 135913953 single base substitution C A upstream_gene_variant COCA-CN 3 135870061 135870061 single base substitution C T downstream_gene_variant COCA-CN 3 135870061 135870061 single base substitution C T synonymous_variant T480T 1440G>A COCA-CN 3 135870061 135870061 single base substitution C T synonymous_variant T554T 1662G>A COCA-CN 3 135887652 135887652 single base substitution A G intron_variant EOPC-DE 3 135919687 135919687 single base substitution A G upstream_gene_variant EOPC-DE 3 135919697 135919697 single base substitution G C upstream_gene_variant ESAD-UK 3 135866879 135866879 single base substitution G A downstream_gene_variant ESAD-UK 3 135868436 135868436 single base substitution A G 3_prime_UTR_variant ESAD-UK 3 135868436 135868436 single base substitution A G downstream_gene_variant ESAD-UK 3 135869328 135869328 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 135869328 135869328 single base substitution C T downstream_gene_variant ESAD-UK 3 135869345 135869345 single base substitution A C 3_prime_UTR_variant ESAD-UK 3 135869345 135869345 single base substitution A C downstream_gene_variant ESAD-UK 3 135873326 135873326 single base substitution T C intron_variant ESAD-UK 3 135874218 135874218 single base substitution T G intron_variant ESAD-UK 3 135875291 135875291 single base substitution A C intron_variant ESAD-UK 3 135876463 135876463 deletion of <=200bp A - intron_variant ESAD-UK 3 135878138 135878138 single base substitution T C intron_variant ESAD-UK 3 135878758 135878758 single base substitution A T intron_variant ESAD-UK 3 135879382 135879382 single base substitution T C intron_variant ESAD-UK 3 135880661 135880661 single base substitution A C intron_variant ESAD-UK 3 135884671 135884671 single base substitution G A intron_variant ESAD-UK 3 135885048 135885048 single base substitution T C intron_variant ESAD-UK 3 135886067 135886067 single base substitution A G intron_variant ESAD-UK 3 135887080 135887080 single base substitution T C intron_variant ESAD-UK 3 135888332 135888332 single base substitution C G intron_variant ESAD-UK 3 135889538 135889538 single base substitution A G intron_variant ESAD-UK 3 135890740 135890740 deletion of <=200bp T - intron_variant ESAD-UK 3 135891751 135891751 single base substitution A T intron_variant ESAD-UK 3 135897936 135897936 single base substitution C T intron_variant ESAD-UK 3 135898067 135898067 single base substitution C T intron_variant ESAD-UK 3 135898293 135898293 single base substitution G A intron_variant ESAD-UK 3 135898424 135898424 single base substitution C A intron_variant ESAD-UK 3 135900832 135900832 single base substitution A T intron_variant ESAD-UK 3 135900847 135900847 single base substitution A T intron_variant ESAD-UK 3 135902953 135902953 single base substitution C T intron_variant ESAD-UK 3 135903288 135903288 single base substitution A C intron_variant ESAD-UK 3 135903305 135903305 single base substitution C T intron_variant ESAD-UK 3 135903816 135903816 single base substitution C A intron_variant ESAD-UK 3 135905919 135905919 single base substitution G T intron_variant ESAD-UK 3 135906525 135906526 deletion of <=200bp AT - intron_variant ESAD-UK 3 135907454 135907454 single base substitution T C intron_variant ESAD-UK 3 135911049 135911049 single base substitution C T intron_variant ESAD-UK 3 135915317 135915317 single base substitution G A intron_variant ESAD-UK 3 135915317 135915317 single base substitution G A upstream_gene_variant ESAD-UK 3 135919581 135919581 single base substitution G A upstream_gene_variant ESAD-UK 3 135919666 135919666 single base substitution C T upstream_gene_variant ESAD-UK 3 135920110 135920110 single base substitution C A upstream_gene_variant GBM-US 3 135870091 135870091 single base substitution A T downstream_gene_variant GBM-US 3 135870091 135870091 single base substitution A T missense_variant S470R 1410T>A GBM-US 3 135870091 135870091 single base substitution A T missense_variant S544R 1632T>A KIRC-US 3 135913893 135913893 single base substitution G A intron_variant KIRC-US 3 135913893 135913893 single base substitution G A synonymous_variant D21D 63C>T KIRC-US 3 135913893 135913893 single base substitution G A upstream_gene_variant LAML-KR 3 135899654 135899654 single base substitution A G intron_variant LICA-FR 3 135881241 135881241 single base substitution T C intron_variant LICA-FR 3 135893681 135893681 single base substitution T C intron_variant LICA-FR 3 135894412 135894412 single base substitution C A intron_variant LICA-FR 3 135902222 135902222 single base substitution G A intron_variant LINC-JP 3 135866114 135866114 single base substitution G C downstream_gene_variant LINC-JP 3 135871401 135871401 single base substitution C A stop_gained E108* 322G>T LINC-JP 3 135871401 135871401 single base substitution C A stop_gained E34* 100G>T LINC-JP 3 135877764 135877764 single base substitution C A intron_variant LINC-JP 3 135890481 135890481 single base substitution T C intron_variant LINC-JP 3 135899952 135899952 single base substitution G A intron_variant LINC-JP 3 135913504 135913504 single base substitution G A intron_variant LINC-JP 3 135913504 135913504 single base substitution G A upstream_gene_variant LINC-JP 3 135914035 135914035 single base substitution C A 5_prime_UTR_variant LINC-JP 3 135914035 135914035 single base substitution C A intron_variant LINC-JP 3 135914035 135914035 single base substitution C A upstream_gene_variant LIRI-JP 3 135864240 135864240 single base substitution G A downstream_gene_variant LIRI-JP 3 135865515 135865515 single base substitution T C downstream_gene_variant LIRI-JP 3 135866644 135866644 insertion of <=200bp - T downstream_gene_variant LIRI-JP 3 135869697 135869697 single base substitution A C 3_prime_UTR_variant LIRI-JP 3 135869697 135869697 single base substitution A C downstream_gene_variant LIRI-JP 3 135869706 135869706 single base substitution A C 3_prime_UTR_variant LIRI-JP 3 135869706 135869706 single base substitution A C downstream_gene_variant LIRI-JP 3 135871408 135871408 insertion of <=200bp - T frameshift_variant K105K? LIRI-JP 3 135871408 135871408 insertion of <=200bp - T frameshift_variant K31K? LIRI-JP 3 135872088 135872088 single base substitution A G intron_variant LIRI-JP 3 135874094 135874094 single base substitution C T intron_variant LIRI-JP 3 135874189 135874189 single base substitution T C intron_variant LIRI-JP 3 135875640 135875640 single base substitution T C intron_variant LIRI-JP 3 135876554 135876554 single base substitution T A intron_variant LIRI-JP 3 135876926 135876926 single base substitution G A intron_variant LIRI-JP 3 135877301 135877301 single base substitution A T intron_variant LIRI-JP 3 135877459 135877459 single base substitution A C intron_variant LIRI-JP 3 135878497 135878497 single base substitution C T intron_variant LIRI-JP 3 135881673 135881673 single base substitution A G intron_variant LIRI-JP 3 135883795 135883795 single base substitution A G intron_variant LIRI-JP 3 135885171 135885171 single base substitution A C intron_variant LIRI-JP 3 135890155 135890155 single base substitution T C intron_variant LIRI-JP 3 135891980 135891980 single base substitution G A intron_variant LIRI-JP 3 135893126 135893126 single base substitution G T intron_variant LIRI-JP 3 135893852 135893852 single base substitution C T intron_variant LIRI-JP 3 135893937 135893937 single base substitution C A intron_variant LIRI-JP 3 135893940 135893940 single base substitution C T intron_variant LIRI-JP 3 135894099 135894099 single base substitution T C intron_variant LIRI-JP 3 135895437 135895437 single base substitution C T intron_variant LIRI-JP 3 135896900 135896900 single base substitution T C intron_variant LIRI-JP 3 135898571 135898571 single base substitution T C intron_variant LIRI-JP 3 135898855 135898855 single base substitution T A intron_variant LIRI-JP 3 135899372 135899372 single base substitution T C intron_variant LIRI-JP 3 135900595 135900595 single base substitution T A intron_variant LIRI-JP 3 135900736 135900736 single base substitution C G intron_variant LIRI-JP 3 135904290 135904290 single base substitution T A intron_variant LIRI-JP 3 135905343 135905343 single base substitution T A intron_variant LIRI-JP 3 135907723 135907723 single base substitution A G intron_variant LIRI-JP 3 135912073 135912073 single base substitution C T intron_variant LIRI-JP 3 135913769 135913769 deletion of <=200bp T - intron_variant LIRI-JP 3 135913769 135913769 deletion of <=200bp T - upstream_gene_variant LIRI-JP 3 135914023 135914023 single base substitution A T 5_prime_UTR_variant LIRI-JP 3 135914023 135914023 single base substitution A T intron_variant LIRI-JP 3 135914023 135914023 single base substitution A T upstream_gene_variant LIRI-JP 3 135916653 135916653 single base substitution A G upstream_gene_variant LIRI-JP 3 135919975 135919975 single base substitution C T upstream_gene_variant LIRI-JP 3 135920998 135920998 single base substitution A T upstream_gene_variant LUSC-KR 3 135866302 135866302 single base substitution A C downstream_gene_variant LUSC-KR 3 135868702 135868702 single base substitution T C 3_prime_UTR_variant LUSC-KR 3 135868702 135868702 single base substitution T C downstream_gene_variant LUSC-KR 3 135870463 135870463 single base substitution G C downstream_gene_variant LUSC-KR 3 135870463 135870463 single base substitution G C missense_variant H346Q 1038C>G LUSC-KR 3 135870463 135870463 single base substitution G C missense_variant H420Q 1260C>G LUSC-KR 3 135872619 135872619 single base substitution G A intron_variant LUSC-KR 3 135873550 135873550 single base substitution T C intron_variant LUSC-KR 3 135874856 135874856 single base substitution T C intron_variant LUSC-KR 3 135878101 135878101 single base substitution G C intron_variant LUSC-KR 3 135884932 135884932 single base substitution T A intron_variant LUSC-KR 3 135885198 135885198 single base substitution C A intron_variant LUSC-KR 3 135892899 135892899 single base substitution G A intron_variant LUSC-KR 3 135895873 135895873 single base substitution T C intron_variant LUSC-KR 3 135899666 135899666 single base substitution A G intron_variant LUSC-KR 3 135904391 135904391 single base substitution T G intron_variant LUSC-KR 3 135907979 135907979 single base substitution C A intron_variant LUSC-KR 3 135908582 135908582 single base substitution G A intron_variant LUSC-KR 3 135913423 135913423 single base substitution C A intron_variant LUSC-KR 3 135913423 135913423 single base substitution C A upstream_gene_variant LUSC-KR 3 135914339 135914339 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 3 135914339 135914339 single base substitution C A intron_variant LUSC-KR 3 135914339 135914339 single base substitution C A upstream_gene_variant LUSC-KR 3 135914363 135914363 single base substitution G A 5_prime_UTR_variant LUSC-KR 3 135914363 135914363 single base substitution G A intron_variant LUSC-KR 3 135914363 135914363 single base substitution G A upstream_gene_variant LUSC-KR 3 135914438 135914438 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 3 135914438 135914438 single base substitution G A intron_variant LUSC-KR 3 135914438 135914438 single base substitution G A upstream_gene_variant LUSC-KR 3 135919238 135919238 single base substitution A G upstream_gene_variant LUSC-US 3 135870092 135870092 single base substitution C A downstream_gene_variant LUSC-US 3 135870092 135870092 single base substitution C A missense_variant S470I 1409G>T LUSC-US 3 135870092 135870092 single base substitution C A missense_variant S544I 1631G>T MALY-DE 3 135877268 135877268 single base substitution C A intron_variant MALY-DE 3 135878132 135878132 single base substitution T A intron_variant MALY-DE 3 135878148 135878148 single base substitution T A intron_variant MALY-DE 3 135878533 135878533 single base substitution C G intron_variant MALY-DE 3 135882946 135882946 single base substitution T C intron_variant MALY-DE 3 135883073 135883073 single base substitution T C intron_variant MALY-DE 3 135883075 135883075 single base substitution A G intron_variant MALY-DE 3 135883176 135883176 single base substitution A G intron_variant MALY-DE 3 135883212 135883212 single base substitution A C intron_variant MALY-DE 3 135896227 135896227 single base substitution A G intron_variant MALY-DE 3 135896444 135896444 single base substitution C T intron_variant MALY-DE 3 135902584 135902584 single base substitution A T intron_variant MALY-DE 3 135905935 135905935 single base substitution A C intron_variant MALY-DE 3 135906243 135906243 single base substitution G A intron_variant MALY-DE 3 135919285 135919285 single base substitution A G upstream_gene_variant MELA-AU 3 135863882 135863882 single base substitution C T downstream_gene_variant MELA-AU 3 135865556 135865556 single base substitution A G downstream_gene_variant MELA-AU 3 135865871 135865871 single base substitution C T downstream_gene_variant MELA-AU 3 135868654 135868654 single base substitution G A 3_prime_UTR_variant MELA-AU 3 135868654 135868654 single base substitution G A downstream_gene_variant MELA-AU 3 135868974 135868974 insertion of <=200bp - A 3_prime_UTR_variant MELA-AU 3 135868974 135868974 insertion of <=200bp - A downstream_gene_variant MELA-AU 3 135869020 135869020 single base substitution A G 3_prime_UTR_variant MELA-AU 3 135869020 135869020 single base substitution A G downstream_gene_variant MELA-AU 3 135869211 135869211 single base substitution T A 3_prime_UTR_variant MELA-AU 3 135869211 135869211 single base substitution T A downstream_gene_variant MELA-AU 3 135869986 135869986 single base substitution G A 3_prime_UTR_variant MELA-AU 3 135869986 135869986 single base substitution G A downstream_gene_variant MELA-AU 3 135872177 135872177 single base substitution G A intron_variant MELA-AU 3 135872525 135872525 single base substitution G A intron_variant MELA-AU 3 135874384 135874384 single base substitution A G intron_variant MELA-AU 3 135874385 135874385 single base substitution G A intron_variant MELA-AU 3 135874506 135874506 single base substitution G A intron_variant MELA-AU 3 135874589 135874589 single base substitution G A intron_variant MELA-AU 3 135875038 135875038 single base substitution T A intron_variant MELA-AU 3 135875040 135875040 single base substitution A T intron_variant MELA-AU 3 135875651 135875651 single base substitution G A intron_variant MELA-AU 3 135876719 135876719 single base substitution G A intron_variant MELA-AU 3 135876945 135876945 single base substitution G A intron_variant MELA-AU 3 135877081 135877081 single base substitution G A intron_variant MELA-AU 3 135878179 135878179 single base substitution G A intron_variant MELA-AU 3 135878747 135878747 single base substitution G A intron_variant MELA-AU 3 135879314 135879314 single base substitution C T intron_variant MELA-AU 3 135879747 135879747 single base substitution G C intron_variant MELA-AU 3 135880080 135880080 single base substitution G A intron_variant MELA-AU 3 135880523 135880523 single base substitution C T intron_variant MELA-AU 3 135880739 135880739 single base substitution G A intron_variant MELA-AU 3 135880743 135880743 single base substitution G A intron_variant MELA-AU 3 135880914 135880914 single base substitution G A intron_variant MELA-AU 3 135881860 135881860 single base substitution G A intron_variant MELA-AU 3 135881928 135881928 single base substitution C T intron_variant MELA-AU 3 135881929 135881929 single base substitution G A intron_variant MELA-AU 3 135881995 135881995 single base substitution G A intron_variant MELA-AU 3 135882548 135882548 single base substitution C A intron_variant MELA-AU 3 135882577 135882577 single base substitution A G intron_variant MELA-AU 3 135882964 135882964 single base substitution A G intron_variant MELA-AU 3 135883435 135883435 single base substitution G A intron_variant MELA-AU 3 135885209 135885209 single base substitution G A intron_variant MELA-AU 3 135886125 135886125 single base substitution G A intron_variant MELA-AU 3 135886981 135886981 single base substitution G A intron_variant MELA-AU 3 135888476 135888476 single base substitution G A intron_variant MELA-AU 3 135888481 135888481 single base substitution G A intron_variant MELA-AU 3 135889265 135889265 single base substitution G A intron_variant MELA-AU 3 135890085 135890085 single base substitution G C intron_variant MELA-AU 3 135890277 135890277 single base substitution G A intron_variant MELA-AU 3 135890748 135890748 single base substitution G A intron_variant MELA-AU 3 135890869 135890869 single base substitution G A intron_variant MELA-AU 3 135892480 135892480 single base substitution G A intron_variant MELA-AU 3 135893472 135893473 multiple base substitution (>=2bp and <=200bp) TT CC intron_variant MELA-AU 3 135893787 135893787 single base substitution T C intron_variant MELA-AU 3 135894453 135894453 single base substitution C T intron_variant MELA-AU 3 135895613 135895613 single base substitution G T intron_variant MELA-AU 3 135896478 135896478 single base substitution G A intron_variant MELA-AU 3 135896681 135896681 single base substitution A G intron_variant MELA-AU 3 135897112 135897112 single base substitution G A intron_variant MELA-AU 3 135897829 135897829 single base substitution T C intron_variant MELA-AU 3 135898805 135898805 single base substitution G A intron_variant MELA-AU 3 135899254 135899254 single base substitution G A intron_variant MELA-AU 3 135899359 135899359 single base substitution T C intron_variant MELA-AU 3 135901103 135901103 single base substitution G A intron_variant MELA-AU 3 135901396 135901396 single base substitution G A intron_variant MELA-AU 3 135901729 135901730 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 135901788 135901788 single base substitution C T intron_variant MELA-AU 3 135902075 135902075 single base substitution G A intron_variant MELA-AU 3 135902155 135902155 single base substitution T C intron_variant MELA-AU 3 135902914 135902914 single base substitution G A intron_variant MELA-AU 3 135903110 135903110 single base substitution C T intron_variant MELA-AU 3 135903587 135903587 single base substitution A T intron_variant MELA-AU 3 135903995 135903995 single base substitution T A intron_variant MELA-AU 3 135904049 135904049 single base substitution C A intron_variant MELA-AU 3 135904428 135904428 single base substitution G A intron_variant MELA-AU 3 135904461 135904461 single base substitution C T intron_variant MELA-AU 3 135905355 135905355 single base substitution C T intron_variant MELA-AU 3 135906040 135906040 single base substitution G A intron_variant MELA-AU 3 135906491 135906491 single base substitution G A intron_variant MELA-AU 3 135908290 135908290 single base substitution G A intron_variant MELA-AU 3 135908386 135908386 single base substitution G A intron_variant MELA-AU 3 135908900 135908900 single base substitution G A intron_variant MELA-AU 3 135909920 135909920 single base substitution C T intron_variant MELA-AU 3 135910204 135910204 single base substitution G A intron_variant MELA-AU 3 135910440 135910440 single base substitution G C intron_variant MELA-AU 3 135912010 135912010 single base substitution T G intron_variant MELA-AU 3 135914328 135914328 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 3 135914328 135914328 single base substitution G A intron_variant MELA-AU 3 135914328 135914328 single base substitution G A upstream_gene_variant MELA-AU 3 135915199 135915199 single base substitution C T intron_variant MELA-AU 3 135915199 135915199 single base substitution C T upstream_gene_variant MELA-AU 3 135915206 135915206 single base substitution C T intron_variant MELA-AU 3 135915206 135915206 single base substitution C T upstream_gene_variant MELA-AU 3 135915326 135915327 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 135915326 135915327 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 135915327 135915327 single base substitution C T intron_variant MELA-AU 3 135915327 135915327 single base substitution C T upstream_gene_variant MELA-AU 3 135916274 135916274 single base substitution T C upstream_gene_variant MELA-AU 3 135916904 135916904 single base substitution C T upstream_gene_variant MELA-AU 3 135917291 135917291 single base substitution G A upstream_gene_variant MELA-AU 3 135917478 135917478 single base substitution G A upstream_gene_variant MELA-AU 3 135917696 135917696 single base substitution A G upstream_gene_variant MELA-AU 3 135917903 135917903 single base substitution G A upstream_gene_variant MELA-AU 3 135918773 135918773 single base substitution C T upstream_gene_variant MELA-AU 3 135918981 135918981 single base substitution C T upstream_gene_variant MELA-AU 3 135919074 135919074 single base substitution A T upstream_gene_variant MELA-AU 3 135919220 135919220 single base substitution G A upstream_gene_variant MELA-AU 3 135919520 135919520 single base substitution G A upstream_gene_variant MELA-AU 3 135919592 135919592 single base substitution T G upstream_gene_variant MELA-AU 3 135919730 135919730 single base substitution C T upstream_gene_variant MELA-AU 3 135919835 135919835 single base substitution G A upstream_gene_variant MELA-AU 3 135920526 135920526 single base substitution G A upstream_gene_variant ORCA-IN 3 135870724 135870724 single base substitution C T downstream_gene_variant ORCA-IN 3 135870724 135870724 single base substitution C T synonymous_variant P259P 777G>A ORCA-IN 3 135870724 135870724 single base substitution C T synonymous_variant P333P 999G>A ORCA-IN 3 135887802 135887802 single base substitution G C intron_variant ORCA-IN 3 135901089 135901089 deletion of <=200bp A - intron_variant ORCA-IN 3 135906269 135906269 single base substitution T G intron_variant OV-AU 3 135862983 135862983 single base substitution T G downstream_gene_variant OV-AU 3 135863468 135863468 single base substitution A C downstream_gene_variant OV-AU 3 135865139 135865139 single base substitution T C downstream_gene_variant OV-AU 3 135871285 135871285 insertion of <=200bp - T frameshift_variant P146P? OV-AU 3 135871285 135871285 insertion of <=200bp - T frameshift_variant P72P? OV-AU 3 135877239 135877239 single base substitution T A intron_variant OV-AU 3 135879822 135879822 single base substitution G A intron_variant OV-AU 3 135880595 135880595 single base substitution C A intron_variant OV-AU 3 135885302 135885302 single base substitution T C intron_variant OV-AU 3 135887049 135887049 single base substitution C T intron_variant OV-AU 3 135887398 135887398 single base substitution A T intron_variant OV-AU 3 135893053 135893053 single base substitution T C intron_variant OV-AU 3 135894135 135894135 single base substitution G A intron_variant OV-AU 3 135901571 135901571 single base substitution A G intron_variant OV-AU 3 135906525 135906525 single base substitution A T intron_variant OV-AU 3 135908497 135908497 single base substitution T G intron_variant OV-AU 3 135914962 135914962 single base substitution G T intron_variant OV-AU 3 135914962 135914962 single base substitution G T upstream_gene_variant OV-AU 3 135915166 135915166 single base substitution G T 5_prime_UTR_variant OV-AU 3 135915166 135915166 single base substitution G T intron_variant OV-AU 3 135915166 135915166 single base substitution G T upstream_gene_variant PACA-AU 3 135864605 135864605 single base substitution G C downstream_gene_variant PACA-AU 3 135867800 135867800 single base substitution A G 3_prime_UTR_variant PACA-AU 3 135867800 135867800 single base substitution A G downstream_gene_variant PACA-AU 3 135868356 135868356 single base substitution A C 3_prime_UTR_variant PACA-AU 3 135868356 135868356 single base substitution A C downstream_gene_variant PACA-AU 3 135870133 135870133 single base substitution G A downstream_gene_variant PACA-AU 3 135870133 135870133 single base substitution G A synonymous_variant N456N 1368C>T PACA-AU 3 135870133 135870133 single base substitution G A synonymous_variant N530N 1590C>T PACA-AU 3 135876118 135876118 single base substitution G A intron_variant PACA-AU 3 135876119 135876119 single base substitution C A intron_variant PACA-AU 3 135881116 135881116 single base substitution A T intron_variant PACA-AU 3 135881973 135881973 single base substitution C T intron_variant PACA-AU 3 135887397 135887397 single base substitution G T intron_variant PACA-AU 3 135889523 135889523 single base substitution G C intron_variant PACA-AU 3 135892023 135892023 insertion of <=200bp - AAC intron_variant PACA-AU 3 135896095 135896095 single base substitution G A intron_variant PACA-AU 3 135901788 135901788 single base substitution C G intron_variant PACA-AU 3 135901788 135901788 single base substitution C T intron_variant PACA-AU 3 135904206 135904206 single base substitution A G intron_variant PACA-AU 3 135906526 135906526 single base substitution T A intron_variant PACA-AU 3 135908332 135908332 single base substitution G A intron_variant PACA-AU 3 135915788 135915788 single base substitution C T intron_variant PACA-AU 3 135915788 135915788 single base substitution C T upstream_gene_variant PACA-AU 3 135918514 135918514 single base substitution A C upstream_gene_variant PACA-CA 3 135866507 135866507 single base substitution C T downstream_gene_variant PACA-CA 3 135867976 135867976 single base substitution A C 3_prime_UTR_variant PACA-CA 3 135867976 135867976 single base substitution A C downstream_gene_variant PACA-CA 3 135870466 135870466 single base substitution A G downstream_gene_variant PACA-CA 3 135870466 135870466 single base substitution A G synonymous_variant S345S 1035T>C PACA-CA 3 135870466 135870466 single base substitution A G synonymous_variant S419S 1257T>C PACA-CA 3 135872004 135872004 single base substitution G C intron_variant PACA-CA 3 135875212 135875212 single base substitution C G intron_variant PACA-CA 3 135876873 135876873 single base substitution G A intron_variant PACA-CA 3 135877862 135877862 single base substitution C A intron_variant PACA-CA 3 135881162 135881164 deletion of <=200bp CAC - intron_variant PACA-CA 3 135881974 135881974 single base substitution G A intron_variant PACA-CA 3 135887793 135887793 insertion of <=200bp - A intron_variant PACA-CA 3 135890093 135890093 single base substitution G T intron_variant PACA-CA 3 135893816 135893816 single base substitution T C intron_variant PACA-CA 3 135896067 135896067 single base substitution A C intron_variant PACA-CA 3 135899193 135899193 single base substitution G T intron_variant PACA-CA 3 135900833 135900833 single base substitution T A intron_variant PACA-CA 3 135901123 135901123 single base substitution T C intron_variant PACA-CA 3 135902859 135902859 single base substitution C T intron_variant PACA-CA 3 135906026 135906026 single base substitution A C intron_variant PACA-CA 3 135906422 135906422 single base substitution A T intron_variant PACA-CA 3 135906525 135906525 single base substitution A T intron_variant PACA-CA 3 135906785 135906785 single base substitution T A intron_variant PACA-CA 3 135913147 135913147 deletion of <=200bp T - intron_variant PACA-CA 3 135913824 135913824 single base substitution G C intron_variant PACA-CA 3 135913824 135913824 single base substitution G C missense_variant C44W 132C>G PACA-CA 3 135913824 135913824 single base substitution G C upstream_gene_variant PACA-CA 3 135917296 135917296 single base substitution A G upstream_gene_variant PACA-CA 3 135917534 135917534 single base substitution T A upstream_gene_variant PACA-CA 3 135919981 135919981 single base substitution C T upstream_gene_variant PACA-CA 3 135920067 135920067 single base substitution G A upstream_gene_variant PACA-CA 3 135920250 135920250 single base substitution G A upstream_gene_variant PAEN-AU 3 135866448 135866448 single base substitution T C downstream_gene_variant PAEN-AU 3 135866450 135866450 single base substitution A G downstream_gene_variant PAEN-AU 3 135872613 135872613 single base substitution T C intron_variant PAEN-AU 3 135887406 135887406 single base substitution G C intron_variant PAEN-AU 3 135913296 135913296 single base substitution C T 5_prime_UTR_variant PAEN-AU 3 135913296 135913296 single base substitution C T intron_variant PAEN-IT 3 135872119 135872119 single base substitution T C intron_variant PBCA-DE 3 135865827 135865827 deletion of <=200bp T - downstream_gene_variant PBCA-DE 3 135883688 135883688 single base substitution C G intron_variant PBCA-DE 3 135884879 135884879 single base substitution T A intron_variant PBCA-DE 3 135886184 135886184 deletion of <=200bp A - intron_variant PBCA-DE 3 135898907 135898907 insertion of <=200bp - A intron_variant PBCA-DE 3 135906786 135906786 insertion of <=200bp - A intron_variant PBCA-DE 3 135910154 135910154 insertion of <=200bp - TTT intron_variant PBCA-DE 3 135913456 135913456 single base substitution C T intron_variant PBCA-DE 3 135913456 135913456 single base substitution C T upstream_gene_variant PBCA-DE 3 135915335 135915335 single base substitution T C intron_variant PBCA-DE 3 135915335 135915335 single base substitution T C upstream_gene_variant PBCA-DE 3 135915854 135915854 single base substitution C T intron_variant PBCA-DE 3 135915854 135915854 single base substitution C T upstream_gene_variant PRAD-CA 3 135888590 135888590 single base substitution C G intron_variant PRAD-UK 3 135878016 135878016 single base substitution C A intron_variant PRAD-UK 3 135883308 135883308 single base substitution T G intron_variant PRAD-UK 3 135887697 135887697 single base substitution A G intron_variant PRAD-UK 3 135900854 135900854 single base substitution T A intron_variant PRAD-UK 3 135901063 135901063 single base substitution G A intron_variant PRAD-UK 3 135907388 135907388 single base substitution T G intron_variant PRAD-UK 3 135916343 135916343 single base substitution C G upstream_gene_variant PRAD-UK 3 135919041 135919041 insertion of <=200bp - A upstream_gene_variant PRAD-US 3 135870947 135870947 single base substitution T A downstream_gene_variant PRAD-US 3 135870947 135870947 single base substitution T A missense_variant D185V 554A>T PRAD-US 3 135870947 135870947 single base substitution T A missense_variant D259V 776A>T PRAD-US 3 135913890 135913890 single base substitution G T intron_variant PRAD-US 3 135913890 135913890 single base substitution G T synonymous_variant P22P 66C>A PRAD-US 3 135913890 135913890 single base substitution G T upstream_gene_variant RECA-EU 3 135889532 135889532 single base substitution G A intron_variant RECA-EU 3 135893180 135893180 single base substitution A G intron_variant RECA-EU 3 135893832 135893832 single base substitution C T intron_variant RECA-EU 3 135895165 135895165 single base substitution G C intron_variant RECA-EU 3 135900343 135900343 single base substitution C T intron_variant RECA-EU 3 135907977 135907977 single base substitution A C intron_variant RECA-EU 3 135913402 135913402 single base substitution A G intron_variant RECA-EU 3 135913402 135913402 single base substitution A G upstream_gene_variant RECA-EU 3 135918623 135918623 single base substitution G C upstream_gene_variant RECA-EU 3 135920385 135920385 single base substitution C G upstream_gene_variant SKCA-BR 3 135868299 135868299 single base substitution C T 3_prime_UTR_variant SKCA-BR 3 135868299 135868299 single base substitution C T downstream_gene_variant SKCA-BR 3 135869815 135869815 single base substitution C T 3_prime_UTR_variant SKCA-BR 3 135869815 135869815 single base substitution C T downstream_gene_variant SKCA-BR 3 135874049 135874049 insertion of <=200bp - GA intron_variant SKCA-BR 3 135876098 135876125 deletion of <=200bp GATCACCTGAGGTCAGGAAGGCGGGCCA - intron_variant SKCA-BR 3 135882912 135882912 single base substitution G A intron_variant SKCA-BR 3 135887097 135887097 single base substitution G A intron_variant SKCA-BR 3 135888088 135888088 single base substitution G A intron_variant SKCA-BR 3 135889350 135889350 insertion of <=200bp - CT intron_variant SKCA-BR 3 135891753 135891753 single base substitution C T intron_variant SKCA-BR 3 135893264 135893264 single base substitution A G intron_variant SKCA-BR 3 135893295 135893295 single base substitution A G intron_variant SKCA-BR 3 135894662 135894662 single base substitution C G intron_variant SKCA-BR 3 135896248 135896248 single base substitution G A intron_variant SKCA-BR 3 135896522 135896522 insertion of <=200bp - TACA intron_variant SKCA-BR 3 135897160 135897160 single base substitution A T intron_variant SKCA-BR 3 135897845 135897845 single base substitution T C intron_variant SKCA-BR 3 135903592 135903592 single base substitution A G intron_variant SKCA-BR 3 135903593 135903593 single base substitution G A intron_variant SKCA-BR 3 135904381 135904382 deletion of <=200bp GA - intron_variant SKCA-BR 3 135908317 135908317 single base substitution A G intron_variant SKCA-BR 3 135908545 135908545 single base substitution G A intron_variant SKCA-BR 3 135910309 135910310 deletion of <=200bp CA - intron_variant SKCA-BR 3 135911656 135911656 single base substitution T C intron_variant SKCA-BR 3 135911973 135911973 single base substitution C A intron_variant SKCA-BR 3 135913007 135913007 single base substitution T A intron_variant SKCA-BR 3 135915326 135915326 single base substitution C T intron_variant SKCA-BR 3 135915326 135915326 single base substitution C T upstream_gene_variant SKCA-BR 3 135915327 135915327 single base substitution C T intron_variant SKCA-BR 3 135915327 135915327 single base substitution C T upstream_gene_variant SKCA-BR 3 135916824 135916824 insertion of <=200bp - CTT upstream_gene_variant SKCA-BR 3 135918156 135918156 single base substitution G A upstream_gene_variant SKCA-BR 3 135920776 135920776 single base substitution A C upstream_gene_variant SKCA-BR 3 135920784 135920784 single base substitution A C upstream_gene_variant SKCM-US 3 135870726 135870726 single base substitution G A downstream_gene_variant SKCM-US 3 135870726 135870726 single base substitution G A missense_variant P259S 775C>T SKCM-US 3 135870726 135870726 single base substitution G A missense_variant P333S 997C>T SKCM-US 3 135870900 135870900 single base substitution G A downstream_gene_variant SKCM-US 3 135870900 135870900 single base substitution G A missense_variant R201C 601C>T SKCM-US 3 135870900 135870900 single base substitution G A missense_variant R275C 823C>T SKCM-US 3 135871300 135871300 single base substitution C T synonymous_variant E141E 423G>A SKCM-US 3 135871300 135871300 single base substitution C T synonymous_variant E67E 201G>A STAD-US 3 135863921 135863921 single base substitution C A downstream_gene_variant STAD-US 3 135870112 135870112 single base substitution A G downstream_gene_variant STAD-US 3 135870112 135870112 single base substitution A G synonymous_variant R463R 1389T>C STAD-US 3 135870112 135870112 single base substitution A G synonymous_variant R537R 1611T>C STAD-US 3 135870294 135870294 single base substitution G A downstream_gene_variant STAD-US 3 135870294 135870294 single base substitution G A stop_gained R403* 1207C>T STAD-US 3 135870294 135870294 single base substitution G A stop_gained R477* 1429C>T STAD-US 3 135870296 135870296 single base substitution C T downstream_gene_variant STAD-US 3 135870296 135870296 single base substitution C T missense_variant C402Y 1205G>A STAD-US 3 135870296 135870296 single base substitution C T missense_variant C476Y 1427G>A STAD-US 3 135870304 135870304 single base substitution A G downstream_gene_variant STAD-US 3 135870304 135870304 single base substitution A G synonymous_variant V399V 1197T>C STAD-US 3 135870304 135870304 single base substitution A G synonymous_variant V473V 1419T>C STAD-US 3 135870314 135870315 deletion of <=200bp TT - downstream_gene_variant STAD-US 3 135870314 135870315 deletion of <=200bp TT - frameshift_variant N396 STAD-US 3 135870314 135870315 deletion of <=200bp TT - frameshift_variant N470 STAD-US 3 135870358 135870358 deletion of <=200bp T - downstream_gene_variant STAD-US 3 135870358 135870358 deletion of <=200bp T - frameshift_variant K381 STAD-US 3 135870358 135870358 deletion of <=200bp T - frameshift_variant K455 STAD-US 3 135870433 135870433 deletion of <=200bp T - downstream_gene_variant STAD-US 3 135870433 135870433 deletion of <=200bp T - frameshift_variant K356 STAD-US 3 135870433 135870433 deletion of <=200bp T - frameshift_variant K430 STAD-US 3 135870603 135870603 single base substitution C T downstream_gene_variant STAD-US 3 135870603 135870603 single base substitution C T missense_variant V300M 898G>A STAD-US 3 135870603 135870603 single base substitution C T missense_variant V374M 1120G>A STAD-US 3 135870677 135870677 single base substitution C T downstream_gene_variant STAD-US 3 135870677 135870677 single base substitution C T missense_variant S275N 824G>A STAD-US 3 135870677 135870677 single base substitution C T missense_variant S349N 1046G>A STAD-US 3 135870699 135870699 single base substitution G A downstream_gene_variant STAD-US 3 135870699 135870699 single base substitution G A stop_gained R268* 802C>T STAD-US 3 135870699 135870699 single base substitution G A stop_gained R342* 1024C>T STAD-US 3 135870710 135870710 single base substitution A G downstream_gene_variant STAD-US 3 135870710 135870710 single base substitution A G missense_variant L264S 791T>C STAD-US 3 135870710 135870710 single base substitution A G missense_variant L338S 1013T>C STAD-US 3 135870724 135870724 single base substitution C T downstream_gene_variant STAD-US 3 135870724 135870724 single base substitution C T synonymous_variant P259P 777G>A STAD-US 3 135870724 135870724 single base substitution C T synonymous_variant P333P 999G>A STAD-US 3 135871069 135871069 single base substitution A G downstream_gene_variant STAD-US 3 135871069 135871069 single base substitution A G synonymous_variant I144I 432T>C STAD-US 3 135871069 135871069 single base substitution A G synonymous_variant I218I 654T>C STAD-US 3 135871342 135871344 deletion of <=200bp AGA - inframe_deletion S127 STAD-US 3 135871342 135871344 deletion of <=200bp AGA - inframe_deletion S53 STAD-US 3 135871374 135871374 single base substitution G A missense_variant R117W 349C>T STAD-US 3 135871374 135871374 single base substitution G A missense_variant R43W 127C>T STAD-US 3 135871472 135871472 single base substitution C A missense_variant C10F 29G>T STAD-US 3 135871472 135871472 single base substitution C A missense_variant C84F 251G>T STAD-US 3 135871486 135871486 single base substitution A C synonymous_variant P5P 15T>G STAD-US 3 135871486 135871486 single base substitution A C synonymous_variant P79P 237T>G STAD-US 3 135871511 135871511 single base substitution T G 5_prime_UTR_variant STAD-US 3 135871511 135871511 single base substitution T G missense_variant K71T 212A>C THCA-SA 3 135913296 135913296 single base substitution C G 5_prime_UTR_variant THCA-SA 3 135913296 135913296 single base substitution C G intron_variant UCEC-US 3 135869997 135869997 single base substitution C T downstream_gene_variant UCEC-US 3 135869997 135869997 single base substitution C T missense_variant D502N 1504G>A UCEC-US 3 135869997 135869997 single base substitution C T missense_variant D576N 1726G>A UCEC-US 3 135870121 135870121 single base substitution A G downstream_gene_variant UCEC-US 3 135870121 135870121 single base substitution A G synonymous_variant I460I 1380T>C UCEC-US 3 135870121 135870121 single base substitution A G synonymous_variant I534I 1602T>C UCEC-US 3 135870123 135870123 single base substitution T C downstream_gene_variant UCEC-US 3 135870123 135870123 single base substitution T C missense_variant I460V 1378A>G UCEC-US 3 135870123 135870123 single base substitution T C missense_variant I534V 1600A>G UCEC-US 3 135870183 135870183 insertion of <=200bp - A downstream_gene_variant UCEC-US 3 135870183 135870183 insertion of <=200bp - A frameshift_variant A440V? UCEC-US 3 135870183 135870183 insertion of <=200bp - A frameshift_variant A514V? UCEC-US 3 135870274 135870274 single base substitution G A downstream_gene_variant UCEC-US 3 135870274 135870274 single base substitution G A synonymous_variant C409C 1227C>T UCEC-US 3 135870274 135870274 single base substitution G A synonymous_variant C483C 1449C>T UCEC-US 3 135870346 135870346 single base substitution C A downstream_gene_variant UCEC-US 3 135870346 135870346 single base substitution C A missense_variant K385N 1155G>T UCEC-US 3 135870346 135870346 single base substitution C A missense_variant K459N 1377G>T UCEC-US 3 135870401 135870401 single base substitution T C downstream_gene_variant UCEC-US 3 135870401 135870401 single base substitution T C missense_variant H367R 1100A>G UCEC-US 3 135870401 135870401 single base substitution T C missense_variant H441R 1322A>G UCEC-US 3 135870446 135870446 single base substitution C A downstream_gene_variant UCEC-US 3 135870446 135870446 single base substitution C A missense_variant G352V 1055G>T UCEC-US 3 135870446 135870446 single base substitution C A missense_variant G426V 1277G>T UCEC-US 3 135870724 135870724 single base substitution C T downstream_gene_variant UCEC-US 3 135870724 135870724 single base substitution C T synonymous_variant P259P 777G>A UCEC-US 3 135870724 135870724 single base substitution C T synonymous_variant P333P 999G>A UCEC-US 3 135870847 135870847 single base substitution C T downstream_gene_variant UCEC-US 3 135870847 135870847 single base substitution C T synonymous_variant P218P 654G>A UCEC-US 3 135870847 135870847 single base substitution C T synonymous_variant P292P 876G>A UCEC-US 3 135871056 135871056 single base substitution T C downstream_gene_variant UCEC-US 3 135871056 135871056 single base substitution T C missense_variant T149A 445A>G UCEC-US 3 135871056 135871056 single base substitution T C missense_variant T223A 667A>G UCEC-US 3 135871065 135871065 single base substitution C T downstream_gene_variant UCEC-US 3 135871065 135871065 single base substitution C T missense_variant V146I 436G>A UCEC-US 3 135871065 135871065 single base substitution C T missense_variant V220I 658G>A UCEC-US 3 135871184 135871184 single base substitution C A downstream_gene_variant UCEC-US 3 135871184 135871184 single base substitution C A missense_variant S106I 317G>T UCEC-US 3 135871184 135871184 single base substitution C A missense_variant S180I 539G>T UCEC-US 3 135871352 135871352 single base substitution T G missense_variant D124A 371A>C UCEC-US 3 135871352 135871352 single base substitution T G missense_variant D50A 149A>C UCEC-US 3 135871401 135871401 single base substitution C T missense_variant E108K 322G>A UCEC-US 3 135871401 135871401 single base substitution C T missense_variant E34K 100G>A UCEC-US 3 135871459 135871459 single base substitution C T synonymous_variant E14E 42G>A UCEC-US 3 135871459 135871459 single base substitution C T synonymous_variant E88E 264G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ccRCC-33 COSM1665602 c.379_381delTCT p.S127delS Deletion - In frame 3:136152500-136152502 - CSCC-41-T COSM4498747 c.526C>T p.P176S Substitution - Missense 3:136152355-136152355 - Gp5D COSM3123265 c.470A>G p.H157R Substitution - Missense 3:136152411-136152411 - CSCC-49-T COSM4571655 c.507T>G p.D169E Substitution - Missense 3:136152374-136152374 - 549 COSM5613003 c.1316C>G p.P439R Substitution - Missense 3:136151565-136151565 - Pat_41_B COSM5863600 c.74C>T p.P25L Substitution - Missense 3:136195040-136195040 - TCGA-AP-A056-01 COSM1038834 c.1602T>C p.I534I Substitution - coding silent 3:136151279-136151279 - TCGA-CA-6718-01 COSM1419357 c.1721G>A p.R574K Substitution - Missense 3:136151160-136151160 - SC_9086 COSM5566224 c.1460G>A p.R487H Substitution - Missense 3:136151421-136151421 - TCGA-CG-4437-01 COSM4113841 c.251G>T p.C84F Substitution - Missense 3:136152630-136152630 - S02397 COSM5699268 c.1235A>G p.H412R Substitution - Missense 3:136151646-136151646 - OSCC-GB_00020111 COSM1038841 c.999G>A p.P333P Substitution - coding silent 3:136151882-136151882 - 12D COSM1235042 c.615delT p.F205fs*3 Deletion - Frameshift 3:136152266-136152266 - TCGA-AX-A05Z-01 COSM1038840 c.1277G>T p.G426V Substitution - Missense 3:136151604-136151604 - 587284 COSM1215577 c.1609C>T p.R537C Substitution - Missense 3:136151272-136151272 - TCGA-HU-A4H3-01 COSM4113840 c.654T>C p.I218I Substitution - coding silent 3:136152227-136152227 - BD72T COSM5511948 c.767delT p.F256fs*5 Deletion - Frameshift 3:136152114-136152114 - PCSI_0056_Pa_X COSM3380412 c.1257T>C p.S419S Substitution - coding silent 3:136151624-136151624 - 587270 COSM1215575 c.1601T>C p.I534T Substitution - Missense 3:136151280-136151280 - TCGA-CH-5788-01 COSM1130332 c.776A>T p.D259V Substitution - Missense 3:136152105-136152105 - TCGA-AX-A05Z-01 COSM1038842 c.876G>A p.P292P Substitution - coding silent 3:136152005-136152005 - TCGA-BR-7715-01 COSM4113839 c.1013T>C p.L338S Substitution - Missense 3:136151868-136151868 - HCC2998 COSM3123224 c.1476T>G p.D492E Substitution - Missense 3:136151405-136151405 - 2T COSM1038841 c.999G>A p.P333P Substitution - coding silent 3:136151882-136151882 - HCC108 COSM1616959 c.322G>T p.E108* Substitution - Nonsense 3:136152559-136152559 - ESO-187 COSM1257989 c.650C>T p.T217M Substitution - Missense 3:136152231-136152231 - PCSI_0049_Pa_X COSM3380412 c.1257T>C p.S419S Substitution - coding silent 3:136151624-136151624 - 3101B7_032_T COSM5039210 c.1572G>T p.R524S Substitution - Missense 3:136151309-136151309 - TCGA-B5-A11N-01 COSM1038846 c.371A>C p.D124A Substitution - Missense 3:136152510-136152510 - TCGA-AX-A0J0-01 COSM1038839 c.1322A>G p.H441R Substitution - Missense 3:136151559-136151559 - SNU-C4 COSM4615693 c.1290delA p.D431fs*4 Deletion - Frameshift 3:136151591-136151591 - T636 COSM4703384 c.1356G>T p.V452V Substitution - coding silent 3:136151525-136151525 - C135 COSM4618296 c.1707A>G p.E569E Substitution - coding silent 3:136151174-136151174 - TCGA-EW-A1P4-01 COSM1484658 c.981A>T p.S327S Substitution - coding silent 3:136151900-136151900 - TCGA-BR-8680-01 COSM4113843 c.212A>C p.K71T Substitution - Missense 3:136152669-136152669 - PD11349a COSM5640067 c.1454C>G p.S485C Substitution - Missense 3:136151427-136151427 - SA233 COSM212733 c.1102G>A p.A368T Substitution - Missense 3:136151779-136151779 - KM12 COSM3123256 c.651G>A p.T217T Substitution - coding silent 3:136152230-136152230 - DN11226 COSM5640067 c.1454C>G p.S485C Substitution - Missense 3:136151427-136151427 - ESO-859 COSM1239479 c.874C>T p.P292S Substitution - Missense 3:136152007-136152007 - TCGA-CG-4436-01 COSM4113833 c.1429C>T p.R477* Substitution - Nonsense 3:136151452-136151452 - ATL064 COSM5708484 c.712G>C p.V238L Substitution - Missense 3:136152169-136152169 - ESCC_117 COSM5640067 c.1454C>G p.S485C Substitution - Missense 3:136151427-136151427 - TCGA-CG-5721-01 COSM4113835 c.1419T>C p.V473V Substitution - coding silent 3:136151462-136151462 - TCGA-DA-A3F5-06 COSM3587846 c.423G>A p.E141E Substitution - coding silent 3:136152458-136152458 - TCGA-AP-A056-01 COSM1038844 c.658G>A p.V220I Substitution - Missense 3:136152223-136152223 - TCGA-AX-A0J0-01 COSM1038845 c.539G>T p.S180I Substitution - Missense 3:136152342-136152342 - TCGA-24-1845-01 COSM1327855 c.1350G>C p.K450N Substitution - Missense 3:136151531-136151531 - 256528 COSM1616959 c.322G>T p.E108* Substitution - Nonsense 3:136152559-136152559 - TCGA-12-0692-01 COSM2154302 c.1632T>A p.S544R Substitution - Missense 3:136151249-136151249 - LUAD-S01304 COSM385480 c.134G>C p.C45S Substitution - Missense 3:136194980-136194980 - TCGA-C8-A12Y-01 COSM445651 c.949A>G p.M317V Substitution - Missense 3:136151932-136151932 - TCGA-CG-5733-01 COSM4113837 c.1046G>A p.S349N Substitution - Missense 3:136151835-136151835 - TCGA-AA-3672-01 COSM266959 c.1316C>A p.P439H Substitution - Missense 3:136151565-136151565 - PT53 COSM5941214 c.886G>A p.A296T Substitution - Missense 3:136151995-136151995 - TCGA-AZ-4315-01 COSM1419359 c.873G>A p.Q291Q Substitution - coding silent 3:136152008-136152008 - I2L-P16-Tumor-Biopsy COSM5355162 c.1350G>T p.K450N Substitution - Missense 3:136151531-136151531 - SNU-175 COSM3123249 c.988G>A p.A330T Substitution - Missense 3:136151893-136151893 - 8066067 COSM3123220 c.1590C>T p.N530N Substitution - coding silent 3:136151291-136151291 - JVM-2 COSM1738899 c.1165C>G p.P389A Substitution - Missense 3:136151716-136151716 - TCGA-37-3789-01 COSM728245 c.1631G>T p.S544I Substitution - Missense 3:136151250-136151250 - PCSI_0052_Pa_X COSM3380412 c.1257T>C p.S419S Substitution - coding silent 3:136151624-136151624 - PCSI_0050_Pa_X COSM3380412 c.1257T>C p.S419S Substitution - coding silent 3:136151624-136151624 - S01366 COSM312957 c.739T>C p.C247R Substitution - Missense 3:136152142-136152142 - TCGA-E2-A107-01 COSM445652 c.629delC p.P210fs*17 Deletion - Frameshift 3:136152252-136152252 - Br04X COSM39351 c.575A>G p.N192S Substitution - Missense 3:136152306-136152306 - HCC2998 COSM3123236 c.1212T>G p.S404S Substitution - coding silent 3:136151669-136151669 - 587376 COSM1215578 c.436C>T p.P146S Substitution - Missense 3:136152445-136152445 - ESO-027 COSM1257988 c.230T>C p.M77T Substitution - Missense 3:136152651-136152651 - TCGA-BR-8591-01 COSM1038841 c.999G>A p.P333P Substitution - coding silent 3:136151882-136151882 - PD9595a COSM5775986 c.352G>A p.D118N Substitution - Missense 3:136152529-136152529 - WT026 COSM5351904 c.1542C>T p.A514A Substitution - coding silent 3:136151339-136151339 - EW8 COSM4583976 c.544C>T p.L182F Substitution - Missense 3:136152337-136152337 - TCGA-HU-A4H8-01 COSM4113834 c.1427G>A p.C476Y Substitution - Missense 3:136151454-136151454 - TCGA-CD-A4MI-01 COSM4113836 c.1120G>A p.V374M Substitution - Missense 3:136151761-136151761 - T2269 COSM4703387 c.362A>G p.E121G Substitution - Missense 3:136152519-136152519 - LAU618 COSM232817 c.1142C>T p.S381F Substitution - Missense 3:136151739-136151739 - TCGA-AP-A051-01 COSM1038835 c.1600A>G p.I534V Substitution - Missense 3:136151281-136151281 - TCGA-HF-7132-01 COSM3123270 c.349C>T p.R117W Substitution - Missense 3:136152532-136152532 - TCGA-D1-A17Q-01 COSM1038841 c.999G>A p.P333P Substitution - coding silent 3:136151882-136151882 - TCGA-CA-6718-01 COSM1419360 c.832G>T p.E278* Substitution - Nonsense 3:136152049-136152049 - LIM2405 COSM4642731 c.1625G>A p.S542N Substitution - Missense 3:136151256-136151256 - TCGA-DK-A1A3-01 COSM419810 c.25C>T p.L9F Substitution - Missense 3:136195089-136195089 - PCSI_0038_Pa_X COSM3380412 c.1257T>C p.S419S Substitution - coding silent 3:136151624-136151624 - T19 COSM5344357 c.1080T>C p.I360I Substitution - coding silent 3:136151801-136151801 - ESO-752 COSM1257990 c.122C>A p.S41Y Substitution - Missense 3:136194992-136194992 - TCGA-CD-A4MG-01 COSM4113832 c.1611T>C p.R537R Substitution - coding silent 3:136151270-136151270 - TCGA-AX-A05Z-01 COSM1038833 c.1726G>A p.D576N Substitution - Missense 3:136151155-136151155 - TCGA-AP-A059-01 COSM1038837 c.1449C>T p.C483C Substitution - coding silent 3:136151432-136151432 - 474 COSM4438303 c.1449C>A p.C483* Substitution - Nonsense 3:136151432-136151432 - TCGA-AP-A0LM-01 COSM1038847 c.322G>A p.E108K Substitution - Missense 3:136152559-136152559 - SNU-175 COSM3123270 c.349C>T p.R117W Substitution - Missense 3:136152532-136152532 - CDGLIV0707A0251_T COSM5041952 c.346G>A p.A116T Substitution - Missense 3:136152535-136152535 - TCGA-EJ-A46G-01 COSM3783663 c.66C>A p.P22P Substitution - coding silent 3:136195048-136195048 - TCGA-BS-A0UJ-01 COSM1038836 c.1539_1540insT p.A514fs*17 Insertion - Frameshift 3:136151341-136151342 - B59 COSM1752927 c.100C>T p.L34F Substitution - Missense 3:136195014-136195014 - ccRCC-35 COSM1419358 c.1365delA p.K455fs*37 Deletion - Frameshift 3:136151516-136151516 - TCGA-12-0692 COSM2154302 c.1632T>A p.S544R Substitution - Missense 3:136151249-136151249 - ESO-081 COSM1239480 c.1397G>A p.R466H Substitution - Missense 3:136151484-136151484 - TCGA-D3-A3MR-06 COSM3587845 c.823C>T p.R275C Substitution - Missense 3:136152058-136152058 - TCGA-D1-A16X-01 COSM1038838 c.1377G>T p.K459N Substitution - Missense 3:136151504-136151504 - TCGA-AG-A002-01 COSM262073 c.790G>T p.D264Y Substitution - Missense 3:136152091-136152091 - TCGA-BR-6452-01 COSM4113838 c.1024C>T p.R342* Substitution - Nonsense 3:136151857-136151857 - HCC108T COSM1616959 c.322G>T p.E108* Substitution - Nonsense 3:136152559-136152559 - Pat_41_B COSM5863599 c.863C>T p.P288L Substitution - Missense 3:136152018-136152018 - TCGA-EE-A3AF-06 COSM3587844 c.997C>T p.P333S Substitution - Missense 3:136151884-136151884 - S01366 COSM312957 c.739T>C p.C247R Substitution - Missense 3:136152142-136152142 - TCGA-AX-A0J0-01 COSM1038842 c.876G>A p.P292P Substitution - coding silent 3:136152005-136152005 - TCGA-AP-A054-01 COSM1038843 c.667A>G p.T223A Substitution - Missense 3:136152214-136152214 - TCGA-G2-A2EO-01 COSM1308634 c.88G>A p.E30K Substitution - Missense 3:136195026-136195026 - B59-Tumor COSM1752927 c.100C>T p.L34F Substitution - Missense 3:136195014-136195014 - TCGA-BP-4964-01 COSM479467 c.63C>T p.D21D Substitution - coding silent 3:136195051-136195051 - T3118 COSM4703385 c.948delT p.F316fs*20 Deletion - Frameshift 3:136151933-136151933 - TCGA-BS-A0UF-01 COSM1038848 c.264G>A p.E88E Substitution - coding silent 3:136152617-136152617 - PCSI_0037_Pa_X COSM3380412 c.1257T>C p.S419S Substitution - coding silent 3:136151624-136151624 - TCGA-AC-A23H-01 COSM3846314 c.1603G>A p.A535T Substitution - Missense 3:136151278-136151278 - PCSI_0093_Pa_X COSM3380412 c.1257T>C p.S419S Substitution - coding silent 3:136151624-136151624 - PCSI_0116_Pa_X COSM3380412 c.1257T>C p.S419S Substitution - coding silent 3:136151624-136151624 - ESO-859 COSM1239480 c.1397G>A p.R466H Substitution - Missense 3:136151484-136151484 - TCGA-AG-A00C-01 COSM289845 c.30C>T p.Y10Y Substitution - coding silent 3:136195084-136195084 - 587316 COSM1215576 c.1396C>T p.R466C Substitution - Missense 3:136151485-136151485 - TCGA-C8-A12T-01 COSM445653 c.524C>T p.S175F Substitution - Missense 3:136152357-136152357 - ME009T COSM222856 c.1183C>T p.P395S Substitution - Missense 3:136151698-136151698 - TCGA-CA-6718-01 COSM1419361 c.3G>T p.M1I Substitution - Missense 3:136195111-136195111 - SJHGG031_D COSM4970201 c.377_379delCTT p.S127delS Deletion - In frame 3:136152502-136152504 - RKO COSM4648652 c.1395G>A p.G465G Substitution - coding silent 3:136151486-136151486 - T3301 COSM4703386 c.475C>A p.P159T Substitution - Missense 3:136152406-136152406 - TCGA-BH-A0HF-01 COSM3846315 c.702C>T p.S234S Substitution - coding silent 3:136152179-136152179 - TCGA-CG-4444-01 COSM4113842 c.237T>G p.P79P Substitution - coding silent 3:136152644-136152644 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.18631 3q22.3 614802

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.P79P c.237T>G 3 135871486 STAD A G Missense p.C247R c.739T>C 3 135870984 SCLC A G Missense p.M77T c.230T>C 3 135871493 ESCA A T Missense p.S544R c.1632T>A 3 135870091 GBM C A Missense p.C84F c.251G>T 3 135871472 STAD C A Missense p.D86Y c.256G>T 3 135871467 CM C A Missense p.S544I c.1631G>T 3 135870092 LUSC C T Missense p.A368T c.1102G>A 3 135870621 BRCA C T Missense p.E30K c.88G>A 3 135913868 BLCA C T Missense p.R466H c.1397G>A 3 135870326 ESCA C T Missense p.S320N c.959G>A 3 135870764 CM C T Missense p.S349N c.1046G>A 3 135870677 STAD C T Synonymous p.E141E c.423G>A 3 135871300 CM G A 5-UTRSNV . c.1-38C>T 3 135913993 CM G A Missense p.L9F c.25C>T 3 135913931 BLCA G A Missense p.P292S c.874C>T 3 135870849 ESCA G A Missense p.P333S c.997C>T 3 135870726 CM G A Missense p.P395S c.1183C>T 3 135870540 CM G A Missense p.R275C c.823C>T 3 135870900 CM G A Missense p.R487C c.1459C>T 3 135870264 CM G A Missense p.S147L c.440C>T 3 135871283 HNSC G A Missense p.S162L c.485C>T 3 135871238 COREAD G A Missense p.S175F c.524C>T 3 135871199 BRCA G A Missense p.T217M c.650C>T 3 135871073 ESCA G A Nonsense p.R477* c.1429C>T 3 135870294 STAD G A Synonymous p.D21D c.63C>T 3 135913893 RCCC G A Synonymous p.Y10Y c.30C>T 3 135913926 COREAD G C Missense p.C476W c.1428C>G 3 135870295 HNSC G C Missense p.P448R c.1343C>G 3 135870380 HNSC G C Synonymous p.L34L c.102C>G 3 135913854 LUAD G - Frameshift p.P210Lfs*17 c.629delC 3 135871094 BRCA G T Missense p.N538K c.1614C>A 3 135870109 LUAD G T Missense p.S41Y c.122C>A 3 135913834 ESCA G T Synonymous p.P22P c.66C>A 3 135913890 PRAD T A Missense p.D259V c.776A>T 3 135870947 PRAD T A Synonymous p.S149S c.447A>T 3 135871276 LUAD T A Synonymous p.S327S c.981A>T 3 135870742 BRCA T C Missense p.M317V c.949A>G 3 135870774 BRCA T C Missense p.T223A c.667A>G 3 135871056 UCEC T G IntronicSNV . c.143-2871A>C 3 135874451 CM