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 1 22030035 22030035 + Missense_Mutation SNP G G C TCGA-ZF-A9RG-01A-21D-A42E-08 TCGA-ZF-A9RG-10A-01D-A42H-08 g.chr1:22030035G>C c.2592C>G c.(2590-2592)atC>atG p.I864M BLCA 1 22032653 22032653 + Missense_Mutation SNP G G T TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr1:22032653G>T c.2239C>A c.(2239-2241)Cag>Aag p.Q747K BLCA 1 22033020 22033020 + Missense_Mutation SNP C C G TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 g.chr1:22033020C>G c.2151G>C c.(2149-2151)aaG>aaC p.K717N BLCA 1 22041888 22041888 + Missense_Mutation SNP G G A TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr1:22041888G>A c.1957C>T c.(1957-1959)Cca>Tca p.P653S BLCA 1 22048160 22048160 + Silent SNP C C T TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr1:22048160C>T c.1746G>A c.(1744-1746)ctG>ctA p.L582L BLCA 1 22048202 22048202 + Silent SNP C C T TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr1:22048202C>T c.1704G>A c.(1702-1704)aaG>aaA p.K568K BLCA 1 22048228 22048228 + Missense_Mutation SNP C C G TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr1:22048228C>G c.1678G>C c.(1678-1680)Gaa>Caa p.E560Q BLCA 1 22050463 22050463 + Missense_Mutation SNP T T C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 g.chr1:22050463T>C c.1576A>G c.(1576-1578)Att>Gtt p.I526V BLCA 1 22055168 22055168 + Nonsense_Mutation SNP C C A TCGA-GU-AATP-01A-11D-A391-08 TCGA-GU-AATP-10A-01D-A394-08 g.chr1:22055168C>A c.1345G>T c.(1345-1347)Gag>Tag p.E449* BLCA 1 22055186 22055186 + Missense_Mutation SNP C C A TCGA-XF-A9SJ-01A-11D-A391-08 TCGA-XF-A9SJ-10A-01D-A394-08 g.chr1:22055186C>A c.1327G>T c.(1327-1329)Gat>Tat p.D443Y BLCA 1 22055207 22055207 + Missense_Mutation SNP G G C TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr1:22055207G>C c.1306C>G c.(1306-1308)Ctt>Gtt p.L436V BLCA 1 22056206 22056206 + Nonsense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 g.chr1:22056206G>A c.1291C>T c.(1291-1293)Caa>Taa p.Q431* BLCA 1 22074634 22074634 + Missense_Mutation SNP T T A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr1:22074634T>A c.905A>T c.(904-906)gAc>gTc p.D302V BLCA 1 22074665 22074665 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr1:22074665G>C c.874C>G c.(874-876)Ctg>Gtg p.L292V BLCA 1 22074693 22074693 + Missense_Mutation SNP C C G TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 g.chr1:22074693C>G c.846G>C c.(844-846)aaG>aaC p.K282N BLCA 1 22079540 22079540 + Missense_Mutation SNP T T A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr1:22079540T>A c.485A>T c.(484-486)tAc>tTc p.Y162F BRCA 1 22021687 22021687 + Missense_Mutation SNP T T C TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr1:22021687T>C c.2755A>G c.(2755-2757)Ata>Gta p.I919V BRCA 1 22021710 22021710 + Missense_Mutation SNP T T C TCGA-AR-A2LM-01A-11D-A17W-09 TCGA-AR-A2LM-10A-01D-A17W-09 g.chr1:22021710T>C c.2732A>G c.(2731-2733)aAt>aGt p.N911S BRCA 1 22032270 22032270 + Silent SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 g.chr1:22032270G>A c.2334C>T c.(2332-2334)caC>caT p.H778H BRCA 1 22032270 22032270 + Silent SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 g.chr1:22032270G>A c.2334C>T c.(2332-2334)caC>caT p.H778H BRCA 1 22073561 22073561 + Splice_Site DEL T T - TCGA-A7-A13G-01A-11D-A13L-09 TCGA-A7-A13G-11A-51D-A13O-09 g.chr1:22073561delT c.990delA c.(988-990)aaa>aa p.K330fs BRCA 1 22073596 22073596 + Nonsense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr1:22073596C>A c.955G>T c.(955-957)Gaa>Taa p.E319* BRCA 1 22084163 22084163 + Missense_Mutation SNP C C G TCGA-GI-A2C8-01A-11D-A16D-09 TCGA-GI-A2C8-11A-22D-A16D-09 g.chr1:22084163C>G c.248G>C c.(247-249)aGa>aCa p.R83T BRCA 1 22084186 22084186 + Silent SNP G G T TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 g.chr1:22084186G>T c.225C>A c.(223-225)atC>atA p.I75I CESC 1 22021695 22021695 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 g.chr1:22021695C>T c.2747G>A c.(2746-2748)cGg>cAg p.R916Q CESC 1 22032632 22032632 + Missense_Mutation SNP G G A TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 g.chr1:22032632G>A c.2260C>T c.(2260-2262)Cgg>Tgg p.R754W CESC 1 22050544 22050544 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr1:22050544C>G c.1495G>C c.(1495-1497)Gat>Cat p.D499H CESC 1 22055105 22055105 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 g.chr1:22055105C>T c.1408G>A c.(1408-1410)Gaa>Aaa p.E470K CESC 1 22055156 22055156 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr1:22055156C>G c.1357G>C c.(1357-1359)Gaa>Caa p.E453Q CESC 1 22056230 22056230 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr1:22056230G>C c.1267C>G c.(1267-1269)Caa>Gaa p.Q423E CESC 1 22056234 22056234 + Silent SNP T T C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr1:22056234T>C c.1263A>G c.(1261-1263)caA>caG p.Q421Q CHOL 1 22063114 22063114 + Silent SNP C C T TCGA-W5-AA2U-01A-11D-A417-09 TCGA-W5-AA2U-10A-01D-A41A-09 g.chr1:22063114C>T c.996G>A c.(994-996)ggG>ggA p.G332G COAD 1 22005928 22005928 + Silent SNP A A T TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr1:22005928A>T c.3090T>A c.(3088-3090)acT>acA p.T1030T COAD 1 22016496 22016496 + Missense_Mutation SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr1:22016496C>T c.2980G>A c.(2980-2982)Gtc>Atc p.V994I COAD 1 22021622 22021622 + Silent SNP T T C TCGA-AD-6963-01A-11D-1924-10 TCGA-AD-6963-10A-01D-1924-10 g.chr1:22021622T>C c.2820A>G c.(2818-2820)aaA>aaG p.K940K COAD 1 22021622 22021622 + Silent SNP T T C TCGA-D5-6922-01A-11D-1924-10 TCGA-D5-6922-10A-01D-1924-10 g.chr1:22021622T>C c.2820A>G c.(2818-2820)aaA>aaG p.K940K COAD 1 22021624 22021624 + Missense_Mutation SNP T T C TCGA-CM-6680-01A-11D-1835-10 TCGA-CM-6680-10A-01D-1835-10 g.chr1:22021624T>C c.2818A>G c.(2818-2820)Aaa>Gaa p.K940E COAD 1 22030058 22030058 + Missense_Mutation SNP G G A TCGA-AA-3858-01A-01W-0900-09 TCGA-AA-3858-10A-01W-0900-09 g.chr1:22030058G>A c.2569C>T c.(2569-2571)Cgt>Tgt p.R857C COAD 1 22032262 22032262 + Missense_Mutation SNP A A C TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr1:22032262A>C c.2342T>G c.(2341-2343)cTc>cGc p.L781R COAD 1 22032310 22032310 + Missense_Mutation SNP G G T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr1:22032310G>T c.2294C>A c.(2293-2295)cCt>cAt p.P765H COAD 1 22032327 22032327 + Silent SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr1:22032327C>T c.2277G>A c.(2275-2277)aaG>aaA p.K759K COAD 1 22032619 22032619 + Splice_Site SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr1:22032619C>T c.2273G>A c.(2272-2274)aGa>aAa p.R758K COAD 1 22033020 22033020 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:22033020C>A c.2151G>T c.(2149-2151)aaG>aaT p.K717N COAD 1 22041932 22041932 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:22041932C>A c.1913G>T c.(1912-1914)aGa>aTa p.R638I COAD 1 22047552 22047552 + Missense_Mutation SNP A A G TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr1:22047552A>G c.1871T>C c.(1870-1872)aTg>aCg p.M624T COAD 1 22055141 22055141 + Missense_Mutation SNP G G A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr1:22055141G>A c.1372C>T c.(1372-1374)Cgt>Tgt p.R458C COAD 1 22056235 22056235 + Missense_Mutation SNP T T C TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr1:22056235T>C c.1262A>G c.(1261-1263)cAa>cGa p.Q421R COAD 1 22056265 22056265 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:22056265C>T c.1232G>A c.(1231-1233)cGa>cAa p.R411Q COAD 1 22062982 22062982 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:22062982C>A c.1128G>T c.(1126-1128)aaG>aaT p.K376N COAD 1 22063040 22063040 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:22063040T>C c.1070A>G c.(1069-1071)cAc>cGc p.H357R COAD 1 22078013 22078013 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr1:22078013G>A c.761C>T c.(760-762)tCg>tTg p.S254L COAD 1 22079135 22079135 + Nonsense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:22079135C>A c.550G>T c.(550-552)Gaa>Taa p.E184* COAD 1 22079499 22079499 + Missense_Mutation SNP T T C TCGA-AA-3560-01A-01W-0831-10 TCGA-AA-3560-10A-01W-0831-10 g.chr1:22079499T>C c.526A>G c.(526-528)Act>Gct p.T176A COAD 1 22084234 22084234 + Silent SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr1:22084234A>G c.177T>C c.(175-177)ggT>ggC p.G59G COAD 1 22084255 22084255 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:22084255C>T c.156G>A c.(154-156)ccG>ccA p.P52P COAD 1 22109324 22109324 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr1:22109324C>T c.127G>A c.(127-129)Gtg>Atg p.V43M COADREAD 1 22005928 22005928 + Silent SNP A A T TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr1:22005928A>T c.3090T>A c.(3088-3090)acT>acA p.T1030T COADREAD 1 22016496 22016496 + Missense_Mutation SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr1:22016496C>T c.2980G>A c.(2980-2982)Gtc>Atc p.V994I COADREAD 1 22021580 22021580 + Silent SNP C C T TCGA-AG-3878-01A-02W-0899-10 TCGA-AG-3878-10A-01W-0901-10 g.chr1:22021580C>T c.2862G>A c.(2860-2862)acG>acA p.T954T COADREAD 1 22021622 22021622 + Silent SNP T T C TCGA-AD-6963-01A-11D-1924-10 TCGA-AD-6963-10A-01D-1924-10 g.chr1:22021622T>C c.2820A>G c.(2818-2820)aaA>aaG p.K940K COADREAD 1 22021622 22021622 + Silent SNP T T C TCGA-CI-6620-01A-11D-1826-10 TCGA-CI-6620-10A-01D-1826-10 g.chr1:22021622T>C c.2820A>G c.(2818-2820)aaA>aaG p.K940K COADREAD 1 22021622 22021622 + Silent SNP T T C TCGA-D5-6922-01A-11D-1924-10 TCGA-D5-6922-10A-01D-1924-10 g.chr1:22021622T>C c.2820A>G c.(2818-2820)aaA>aaG p.K940K COADREAD 1 22021624 22021624 + Missense_Mutation SNP T T C TCGA-AG-3732-01A-11D-1657-10 TCGA-AG-3732-11A-01D-1657-10 g.chr1:22021624T>C c.2818A>G c.(2818-2820)Aaa>Gaa p.K940E COADREAD 1 22021624 22021624 + Missense_Mutation SNP T T C TCGA-CM-6680-01A-11D-1835-10 TCGA-CM-6680-10A-01D-1835-10 g.chr1:22021624T>C c.2818A>G c.(2818-2820)Aaa>Gaa p.K940E COADREAD 1 22030058 22030058 + Missense_Mutation SNP G G A TCGA-AA-3858-01A-01W-0900-09 TCGA-AA-3858-10A-01W-0900-09 g.chr1:22030058G>A c.2569C>T c.(2569-2571)Cgt>Tgt p.R857C COADREAD 1 22032262 22032262 + Missense_Mutation SNP A A C TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr1:22032262A>C c.2342T>G c.(2341-2343)cTc>cGc p.L781R COADREAD 1 22032310 22032310 + Missense_Mutation SNP G G T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr1:22032310G>T c.2294C>A c.(2293-2295)cCt>cAt p.P765H COADREAD 1 22032327 22032327 + Silent SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr1:22032327C>T c.2277G>A c.(2275-2277)aaG>aaA p.K759K COADREAD 1 22032619 22032619 + Splice_Site SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr1:22032619C>T c.2273G>A c.(2272-2274)aGa>aAa p.R758K COADREAD 1 22033020 22033020 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:22033020C>A c.2151G>T c.(2149-2151)aaG>aaT p.K717N COADREAD 1 22033300 22033300 + Silent SNP C C A TCGA-AG-A011-01A-01W-A00K-09 TCGA-AG-A011-10A-01W-A00K-09 g.chr1:22033300C>A c.2025G>T c.(2023-2025)ctG>ctT p.L675L COADREAD 1 22041932 22041932 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:22041932C>A c.1913G>T c.(1912-1914)aGa>aTa p.R638I COADREAD 1 22047552 22047552 + Missense_Mutation SNP A A G TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr1:22047552A>G c.1871T>C c.(1870-1872)aTg>aCg p.M624T COADREAD 1 22055141 22055141 + Missense_Mutation SNP G G A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr1:22055141G>A c.1372C>T c.(1372-1374)Cgt>Tgt p.R458C COADREAD 1 22056235 22056235 + Missense_Mutation SNP T T C TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr1:22056235T>C c.1262A>G c.(1261-1263)cAa>cGa p.Q421R COADREAD 1 22056265 22056265 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:22056265C>T c.1232G>A c.(1231-1233)cGa>cAa p.R411Q COADREAD 1 22062982 22062982 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:22062982C>A c.1128G>T c.(1126-1128)aaG>aaT p.K376N COADREAD 1 22063040 22063040 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:22063040T>C c.1070A>G c.(1069-1071)cAc>cGc p.H357R COADREAD 1 22078013 22078013 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr1:22078013G>A c.761C>T c.(760-762)tCg>tTg p.S254L COADREAD 1 22079135 22079135 + Nonsense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:22079135C>A c.550G>T c.(550-552)Gaa>Taa p.E184* COADREAD 1 22079499 22079499 + Missense_Mutation SNP T T C TCGA-AA-3560-01A-01W-0831-10 TCGA-AA-3560-10A-01W-0831-10 g.chr1:22079499T>C c.526A>G c.(526-528)Act>Gct p.T176A COADREAD 1 22084234 22084234 + Silent SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr1:22084234A>G c.177T>C c.(175-177)ggT>ggC p.G59G COADREAD 1 22084255 22084255 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:22084255C>T c.156G>A c.(154-156)ccG>ccA p.P52P COADREAD 1 22109324 22109324 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr1:22109324C>T c.127G>A c.(127-129)Gtg>Atg p.V43M DLBC 1 22033020 22033020 + Silent SNP C C T TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr1:22033020C>T c.2151G>A c.(2149-2151)aaG>aaA p.K717K DLBC 1 22084201 22084201 + Silent SNP A A G TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr1:22084201A>G c.210T>C c.(208-210)aaT>aaC p.N70N ESCA 1 22016515 22016515 + Silent SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr1:22016515G>T c.2961C>A c.(2959-2961)gcC>gcA p.A987A ESCA 1 22033007 22033007 + Missense_Mutation SNP T T C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 g.chr1:22033007T>C c.2164A>G c.(2164-2166)Aat>Gat p.N722D ESCA 1 22074729 22074729 + Silent SNP G G A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 g.chr1:22074729G>A c.810C>T c.(808-810)tgC>tgT p.C270C GBMLGG 1 22016507 22016507 + Missense_Mutation SNP C C T TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 g.chr1:22016507C>T c.2969G>A c.(2968-2970)gGc>gAc p.G990D GBMLGG 1 22030798 22030798 + Silent SNP C C T TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 g.chr1:22030798C>T c.2472G>A c.(2470-2472)gtG>gtA p.V824V GBMLGG 1 22047590 22047590 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:22047590A>G c.1833T>C c.(1831-1833)gaT>gaC p.D611D HNSC 1 22016569 22016569 + Silent SNP A A G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 g.chr1:22016569A>G c.2907T>C c.(2905-2907)gcT>gcC p.A969A HNSC 1 22028022 22028022 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr1:22028022G>A c.2696C>T c.(2695-2697)cCa>cTa p.P899L HNSC 1 22030033 22030033 + Missense_Mutation SNP T T A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 g.chr1:22030033T>A c.2594A>T c.(2593-2595)tAt>tTt p.Y865F HNSC 1 22047643 22047643 + Frame_Shift_Del DEL C C - TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr1:22047643delC c.1780delG c.(1780-1782)gtgfs p.V594fs HNSC 1 22056206 22056206 + Nonsense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chr1:22056206G>A c.1291C>T c.(1291-1293)Caa>Taa p.Q431* HNSC 1 22084256 22084256 + Missense_Mutation SNP G G A TCGA-UF-A71D-01A-12D-A34J-08 TCGA-UF-A71D-10B-01D-A34M-08 g.chr1:22084256G>A c.155C>T c.(154-156)cCg>cTg p.P52L KICH 1 22109370 22109370 + Silent SNP G G A TCGA-KN-8431-01A-11D-2310-10 TCGA-KN-8431-11A-01D-2311-10 g.chr1:22109370G>A c.81C>T c.(79-81)caC>caT p.H27H KIPAN 1 22032266 22032266 + Missense_Mutation SNP C C G TCGA-A3-3347-01A-02D-1386-10 TCGA-A3-3347-11A-01D-1251-10 g.chr1:22032266C>G c.2338G>C c.(2338-2340)Ggc>Cgc p.G780R KIPAN 1 22032286 22032286 + Missense_Mutation SNP G G A TCGA-BP-5182-01A-01D-1429-08 TCGA-BP-5182-11A-01D-1429-08 g.chr1:22032286G>A c.2318C>T c.(2317-2319)gCt>gTt p.A773V KIPAN 1 22041910 22041910 + Missense_Mutation SNP A A T TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr1:22041910A>T c.1935T>A c.(1933-1935)aaT>aaA p.N645K KIPAN 1 22073615 22073615 + Silent SNP A A G TCGA-P4-A5E6-01A-11D-A28G-10 TCGA-P4-A5E6-11A-22D-A28G-10 g.chr1:22073615A>G c.936T>C c.(934-936)aaT>aaC p.N312N KIPAN 1 22079531 22079531 + Missense_Mutation SNP G G T TCGA-CZ-5987-01A-11D-1669-08 TCGA-CZ-5987-11A-01D-1669-08 g.chr1:22079531G>T c.494C>A c.(493-495)cCa>cAa p.P165Q KIPAN 1 22109370 22109370 + Silent SNP G G A TCGA-KN-8431-01A-11D-2310-10 TCGA-KN-8431-11A-01D-2311-10 g.chr1:22109370G>A c.81C>T c.(79-81)caC>caT p.H27H KIRC 1 22032266 22032266 + Missense_Mutation SNP C C G TCGA-A3-3347-01A-02D-1386-10 TCGA-A3-3347-11A-01D-1251-10 g.chr1:22032266C>G c.2338G>C c.(2338-2340)Ggc>Cgc p.G780R KIRC 1 22032286 22032286 + Missense_Mutation SNP G G A TCGA-BP-5182-01A-01D-1429-08 TCGA-BP-5182-11A-01D-1429-08 g.chr1:22032286G>A c.2318C>T c.(2317-2319)gCt>gTt p.A773V KIRC 1 22079531 22079531 + Missense_Mutation SNP G G T TCGA-CZ-5987-01A-11D-1669-08 TCGA-CZ-5987-11A-01D-1669-08 g.chr1:22079531G>T c.494C>A c.(493-495)cCa>cAa p.P165Q KIRP 1 22041910 22041910 + Missense_Mutation SNP A A T TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr1:22041910A>T c.1935T>A c.(1933-1935)aaT>aaA p.N645K KIRP 1 22073615 22073615 + Silent SNP A A G TCGA-P4-A5E6-01A-11D-A28G-10 TCGA-P4-A5E6-11A-22D-A28G-10 g.chr1:22073615A>G c.936T>C c.(934-936)aaT>aaC p.N312N LAML 1 22033076 22033076 + Nonsense_Mutation SNP C C A TCGA-AB-2943-03A-01W-0745-08 TCGA-AB-2943-11A-01W-0745-08 g.chr1:22033076C>A c.2095G>T c.(2095-2097)Gaa>Taa p.E699* LGG 1 22016507 22016507 + Missense_Mutation SNP C C T TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 g.chr1:22016507C>T c.2969G>A c.(2968-2970)gGc>gAc p.G990D LGG 1 22030798 22030798 + Silent SNP C C T TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 g.chr1:22030798C>T c.2472G>A c.(2470-2472)gtG>gtA p.V824V LGG 1 22047590 22047590 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:22047590A>G c.1833T>C c.(1831-1833)gaT>gaC p.D611D LIHC 1 22016544 22016544 + Missense_Mutation SNP C C T TCGA-DD-A1EB-01A-11D-A12Z-10 TCGA-DD-A1EB-10A-01D-A12Z-10 g.chr1:22016544C>T c.2932G>A c.(2932-2934)Gat>Aat p.D978N LIHC 1 22021689 22021689 + Frame_Shift_Del DEL T T - TCGA-UB-A7ME-01A-11D-A33K-10 TCGA-UB-A7ME-10A-01D-A33K-10 g.chr1:22021689delT c.2753delA c.(2752-2754)aagfs p.K918fs LIHC 1 22032230 22032230 + Missense_Mutation SNP C C T TCGA-G3-AAUZ-01A-11D-A382-10 TCGA-G3-AAUZ-10A-01D-A385-10 g.chr1:22032230C>T c.2374G>A c.(2374-2376)Gat>Aat p.D792N LIHC 1 22048144 22048144 + Splice_Site SNP C C A TCGA-DD-AADN-01A-11D-A40R-10 TCGA-DD-AADN-10A-01D-A40U-10 g.chr1:22048144C>A c.1762G>T c.(1762-1764)Ggc>Tgc p.G588C LIHC 1 22056297 22056297 + Frame_Shift_Del DEL T T - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr1:22056297delT c.1200delA c.(1198-1200)aaafs p.K400fs LIHC 1 22083078 22083078 + Missense_Mutation SNP T T C TCGA-DD-A39X-01A-11D-A20W-10 TCGA-DD-A39X-11A-11D-A20W-10 g.chr1:22083078T>C c.373A>G c.(373-375)Agt>Ggt p.S125G LIHC 1 22083087 22083087 + Missense_Mutation SNP T T A TCGA-ED-A7PZ-01A-11D-A33Q-10 TCGA-ED-A7PZ-10A-01D-A33Q-10 g.chr1:22083087T>A c.364A>T c.(364-366)Agc>Tgc p.S122C LIHC 1 22084166 22084166 + Missense_Mutation SNP C C A TCGA-FV-A4ZQ-01A-11D-A25V-10 TCGA-FV-A4ZQ-10A-01D-A25V-10 g.chr1:22084166C>A c.245G>T c.(244-246)aGg>aTg p.R82M LIHC 1 22084236 22084236 + Missense_Mutation SNP C C A TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr1:22084236C>A c.175G>T c.(175-177)Ggt>Tgt p.G59C LUAD 1 22028008 22028008 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr1:22028008C>A c.2710G>T c.(2710-2712)Gat>Tat p.D904Y LUAD 1 22030038 22030038 + Silent SNP G G A TCGA-69-8255-01A-11D-2284-08 TCGA-69-8255-10A-01D-2284-08 g.chr1:22030038G>A c.2589C>T c.(2587-2589)acC>acT p.T863T LUAD 1 22030039 22030039 + Missense_Mutation SNP G G A TCGA-69-8255-01A-11D-2284-08 TCGA-69-8255-10A-01D-2284-08 g.chr1:22030039G>A c.2588C>T c.(2587-2589)aCc>aTc p.T863I LUAD 1 22030794 22030794 + Missense_Mutation SNP C C G TCGA-44-3396-01A-01D-1553-08 TCGA-44-3396-10A-01D-1265-08 g.chr1:22030794C>G c.2476G>C c.(2476-2478)Gat>Cat p.D826H LUAD 1 22032301 22032301 + Missense_Mutation SNP G G A TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 g.chr1:22032301G>A c.2303C>T c.(2302-2304)tCa>tTa p.S768L LUAD 1 22032648 22032648 + Missense_Mutation SNP G G C TCGA-55-6982-01A-11D-1945-08 TCGA-55-6982-11A-01D-1945-08 g.chr1:22032648G>C c.2244C>G c.(2242-2244)ttC>ttG p.F748L LUAD 1 22033296 22033296 + Nonsense_Mutation SNP G G A TCGA-50-5935-01A-11D-1753-08 TCGA-50-5935-11A-01D-1753-08 g.chr1:22033296G>A c.2029C>T c.(2029-2031)Cag>Tag p.Q677* LUAD 1 22056275 22056275 + Missense_Mutation SNP G G C TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr1:22056275G>C c.1222C>G c.(1222-1224)Cat>Gat p.H408D LUAD 1 22074697 22074697 + Missense_Mutation SNP C C G TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr1:22074697C>G c.842G>C c.(841-843)aGa>aCa p.R281T LUAD 1 22078009 22078009 + Silent SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 g.chr1:22078009T>C c.765A>G c.(763-765)gaA>gaG p.E255E LUAD 1 22078012 22078012 + Silent SNP C C A TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr1:22078012C>A c.762G>T c.(760-762)tcG>tcT p.S254S LUAD 1 22079057 22079057 + Nonsense_Mutation SNP G G A TCGA-86-8056-01A-11D-2238-08 TCGA-86-8056-10A-01D-2238-08 g.chr1:22079057G>A c.628C>T c.(628-630)Caa>Taa p.Q210* LUAD 1 22083110 22083110 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 g.chr1:22083110C>T c.341G>A c.(340-342)cGg>cAg p.R114Q LUAD 1 22083113 22083113 + Missense_Mutation SNP A A G TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr1:22083113A>G c.338T>C c.(337-339)cTt>cCt p.L113P LUSC 1 22021658 22021658 + Silent SNP T T C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 g.chr1:22021658T>C c.2784A>G c.(2782-2784)caA>caG p.Q928Q LUSC 1 22033294 22033294 + Missense_Mutation SNP C C A TCGA-66-2771-01A-01D-0983-08 TCGA-66-2771-11A-01D-0983-08 g.chr1:22033294C>A c.2031G>T c.(2029-2031)caG>caT p.Q677H LUSC 1 22063027 22063027 + Silent SNP T T C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 g.chr1:22063027T>C c.1083A>G c.(1081-1083)ccA>ccG p.P361P LUSC 1 22079070 22079070 + Silent SNP C C T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr1:22079070C>T c.615G>A c.(613-615)gtG>gtA p.V205V LUSC 1 22079485 22079485 + Splice_Site SNP C C A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 g.chr1:22079485C>A c.540G>T c.(538-540)caG>caT p.Q180H OV 1 22021622 22021622 + Missense_Mutation SNP T T A TCGA-24-1104-01A-01W-0488-09 TCGA-24-1104-10A-01W-0488-09 g.chr1:22021622T>A c.2820A>T c.(2818-2820)aaA>aaT p.K940N OV 1 22084161 22084161 + Missense_Mutation SNP T T C TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 g.chr1:22084161T>C c.250A>G c.(250-252)Aaa>Gaa p.K84E PAAD 1 22078012 22078012 + Silent SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:22078012C>A c.762G>T c.(760-762)tcG>tcT p.S254S PRAD 1 22048218 22048218 + Missense_Mutation SNP C C T TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 g.chr1:22048218C>T c.1688G>A c.(1687-1689)cGc>cAc p.R563H PRAD 1 22056252 22056252 + Missense_Mutation SNP C C A TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 g.chr1:22056252C>A c.1245G>T c.(1243-1245)atG>atT p.M415I PRAD 1 22074643 22074643 + Missense_Mutation SNP A A C TCGA-J4-A6G1-01A-11D-A30X-08 TCGA-J4-A6G1-10A-01D-A30X-08 g.chr1:22074643A>C c.896T>G c.(895-897)tTt>tGt p.F299C READ 1 22021580 22021580 + Silent SNP C C T TCGA-AG-3878-01A-02W-0899-10 TCGA-AG-3878-10A-01W-0901-10 g.chr1:22021580C>T c.2862G>A c.(2860-2862)acG>acA p.T954T READ 1 22021622 22021622 + Silent SNP T T C TCGA-CI-6620-01A-11D-1826-10 TCGA-CI-6620-10A-01D-1826-10 g.chr1:22021622T>C c.2820A>G c.(2818-2820)aaA>aaG p.K940K READ 1 22021624 22021624 + Missense_Mutation SNP T T C TCGA-AG-3732-01A-11D-1657-10 TCGA-AG-3732-11A-01D-1657-10 g.chr1:22021624T>C c.2818A>G c.(2818-2820)Aaa>Gaa p.K940E READ 1 22033300 22033300 + Silent SNP C C A TCGA-AG-A011-01A-01W-A00K-09 TCGA-AG-A011-10A-01W-A00K-09 g.chr1:22033300C>A c.2025G>T c.(2023-2025)ctG>ctT p.L675L SARC 1 22073626 22073626 + Nonsense_Mutation SNP T T A TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 g.chr1:22073626T>A c.925A>T c.(925-927)Aaa>Taa p.K309* SARC 1 22074761 22074761 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr1:22074761C>T c.778G>A c.(778-780)Gaa>Aaa p.E260K SKCM 1 22033010 22033010 + Missense_Mutation SNP G G A TCGA-D3-A2JP-06A-11D-A19A-08 TCGA-D3-A2JP-10A-01D-A19A-08 g.chr1:22033010G>A c.2161C>T c.(2161-2163)Cca>Tca p.P721S SKCM 1 22055084 22055084 + Nonsense_Mutation SNP G G A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 g.chr1:22055084G>A c.1429C>T c.(1429-1431)Caa>Taa p.Q477* SKCM 1 22073613 22073613 + Missense_Mutation SNP G G A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 g.chr1:22073613G>A c.938C>T c.(937-939)aCc>aTc p.T313I SKCM 1 22078091 22078091 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr1:22078091C>T c.683G>A c.(682-684)aGa>aAa p.R228K SKCM 1 22083050 22083050 + Missense_Mutation SNP T T C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 g.chr1:22083050T>C c.401A>G c.(400-402)cAa>cGa p.Q134R

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 1 22056254 22056254 single base substitution T C 3_prime_UTR_variant BLCA-CN 1 22056254 22056254 single base substitution T C missense_variant M37V 109A>G BLCA-CN 1 22056254 22056254 single base substitution T C missense_variant M414V 1240A>G BLCA-CN 1 22056254 22056254 single base substitution T C missense_variant M415V 1243A>G BLCA-CN 1 22056254 22056254 single base substitution T C start_lost M1V 1A>G BLCA-CN 1 22056254 22056254 single base substitution T C upstream_gene_variant BLCA-US 1 22033020 22033020 single base substitution C G missense_variant K255N 765G>C BLCA-US 1 22033020 22033020 single base substitution C G missense_variant K717N 2151G>C BLCA-US 1 22033020 22033020 single base substitution C G missense_variant K729N 2187G>C BLCA-US 1 22033020 22033020 single base substitution C G upstream_gene_variant BLCA-US 1 22074634 22074634 single base substitution T A downstream_gene_variant BLCA-US 1 22074634 22074634 single base substitution T A exon_variant BLCA-US 1 22074634 22074634 single base substitution T A missense_variant D302V 905A>T BLCA-US 1 22074665 22074665 single base substitution G C downstream_gene_variant BLCA-US 1 22074665 22074665 single base substitution G C exon_variant BLCA-US 1 22074665 22074665 single base substitution G C missense_variant L292V 874C>G BLCA-US 1 22074693 22074693 single base substitution C G downstream_gene_variant BLCA-US 1 22074693 22074693 single base substitution C G missense_variant K282N 846G>C BLCA-US 1 22074693 22074693 single base substitution C G upstream_gene_variant BRCA-EU 1 22000035 22000035 single base substitution A T downstream_gene_variant BRCA-EU 1 22000608 22000608 single base substitution G T downstream_gene_variant BRCA-EU 1 22001618 22001618 single base substitution C G downstream_gene_variant BRCA-EU 1 22001814 22001815 deletion of <=200bp GA - downstream_gene_variant BRCA-EU 1 22002723 22002723 single base substitution G A downstream_gene_variant BRCA-EU 1 22004299 22004299 single base substitution C G downstream_gene_variant BRCA-EU 1 22004873 22004873 single base substitution G T 3_prime_UTR_variant BRCA-EU 1 22004873 22004873 single base substitution G T downstream_gene_variant BRCA-EU 1 22005340 22005340 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 22005340 22005340 single base substitution G A downstream_gene_variant BRCA-EU 1 22006332 22006332 single base substitution G A intron_variant BRCA-EU 1 22007235 22007235 single base substitution C T intron_variant BRCA-EU 1 22008447 22008447 single base substitution C G downstream_gene_variant BRCA-EU 1 22008447 22008447 single base substitution C G intron_variant BRCA-EU 1 22008447 22008447 single base substitution C G upstream_gene_variant BRCA-EU 1 22008856 22008856 single base substitution T A downstream_gene_variant BRCA-EU 1 22008856 22008856 single base substitution T A intron_variant BRCA-EU 1 22008856 22008856 single base substitution T A upstream_gene_variant BRCA-EU 1 22010445 22010445 single base substitution G A downstream_gene_variant BRCA-EU 1 22010445 22010445 single base substitution G A intron_variant BRCA-EU 1 22010445 22010445 single base substitution G A upstream_gene_variant BRCA-EU 1 22011124 22011124 single base substitution G A downstream_gene_variant BRCA-EU 1 22011124 22011124 single base substitution G A intron_variant BRCA-EU 1 22011124 22011124 single base substitution G A upstream_gene_variant BRCA-EU 1 22011269 22011269 single base substitution C T downstream_gene_variant BRCA-EU 1 22011269 22011269 single base substitution C T intron_variant BRCA-EU 1 22011269 22011269 single base substitution C T upstream_gene_variant BRCA-EU 1 22011291 22011291 single base substitution G A downstream_gene_variant BRCA-EU 1 22011291 22011291 single base substitution G A intron_variant BRCA-EU 1 22011291 22011291 single base substitution G A upstream_gene_variant BRCA-EU 1 22011782 22011782 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 22011782 22011782 deletion of <=200bp T - intron_variant BRCA-EU 1 22011782 22011782 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 22012313 22012313 single base substitution A T downstream_gene_variant BRCA-EU 1 22012313 22012313 single base substitution A T intron_variant BRCA-EU 1 22012313 22012313 single base substitution A T upstream_gene_variant BRCA-EU 1 22013898 22013898 single base substitution T G intron_variant BRCA-EU 1 22014251 22014251 single base substitution A G intron_variant BRCA-EU 1 22018507 22018507 single base substitution G A intron_variant BRCA-EU 1 22019061 22019061 single base substitution C T intron_variant BRCA-EU 1 22021737 22021737 single base substitution A G intron_variant BRCA-EU 1 22021767 22021767 single base substitution C T intron_variant BRCA-EU 1 22022931 22022931 single base substitution C G intron_variant BRCA-EU 1 22023547 22023547 single base substitution G C intron_variant BRCA-EU 1 22024800 22024800 single base substitution G A intron_variant BRCA-EU 1 22026072 22026072 single base substitution T A intron_variant BRCA-EU 1 22026104 22026104 single base substitution T A intron_variant BRCA-EU 1 22026836 22026836 single base substitution C A intron_variant BRCA-EU 1 22028696 22028696 single base substitution A C intron_variant BRCA-EU 1 22032081 22032081 deletion of <=200bp A - intron_variant BRCA-EU 1 22032081 22032081 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 22032089 22032089 single base substitution A C intron_variant BRCA-EU 1 22032089 22032089 single base substitution A C upstream_gene_variant BRCA-EU 1 22032578 22032578 single base substitution A G intron_variant BRCA-EU 1 22032578 22032578 single base substitution A G upstream_gene_variant BRCA-EU 1 22033237 22033237 single base substitution C G missense_variant K234N 702G>C BRCA-EU 1 22033237 22033237 single base substitution C G missense_variant K696N 2088G>C BRCA-EU 1 22033237 22033237 single base substitution C G missense_variant K708N 2124G>C BRCA-EU 1 22033237 22033237 single base substitution C G upstream_gene_variant BRCA-EU 1 22035322 22035322 single base substitution G A intron_variant BRCA-EU 1 22035322 22035322 single base substitution G A upstream_gene_variant BRCA-EU 1 22036422 22036422 single base substitution C A intron_variant BRCA-EU 1 22037955 22037955 single base substitution C A downstream_gene_variant BRCA-EU 1 22037955 22037955 single base substitution C A intron_variant BRCA-EU 1 22041457 22041457 single base substitution C A downstream_gene_variant BRCA-EU 1 22041457 22041457 single base substitution C A intron_variant BRCA-EU 1 22041836 22041836 deletion of <=200bp A - exon_variant BRCA-EU 1 22041836 22041836 deletion of <=200bp A - intron_variant BRCA-EU 1 22042034 22042034 single base substitution T C intron_variant BRCA-EU 1 22043002 22043002 single base substitution C T downstream_gene_variant BRCA-EU 1 22043002 22043002 single base substitution C T intron_variant BRCA-EU 1 22044931 22044931 single base substitution G C downstream_gene_variant BRCA-EU 1 22044931 22044931 single base substitution G C intron_variant BRCA-EU 1 22045249 22045249 single base substitution C G downstream_gene_variant BRCA-EU 1 22045249 22045249 single base substitution C G intron_variant BRCA-EU 1 22049666 22049666 single base substitution T A downstream_gene_variant BRCA-EU 1 22049666 22049666 single base substitution T A intron_variant BRCA-EU 1 22049666 22049666 single base substitution T A upstream_gene_variant BRCA-EU 1 22050178 22050178 insertion of <=200bp - A downstream_gene_variant BRCA-EU 1 22050178 22050178 insertion of <=200bp - A intron_variant BRCA-EU 1 22050178 22050178 insertion of <=200bp - A upstream_gene_variant BRCA-EU 1 22053041 22053041 single base substitution G C downstream_gene_variant BRCA-EU 1 22053041 22053041 single base substitution G C exon_variant BRCA-EU 1 22053041 22053041 single base substitution G C intron_variant BRCA-EU 1 22053041 22053041 single base substitution G C upstream_gene_variant BRCA-EU 1 22053174 22053174 single base substitution C T downstream_gene_variant BRCA-EU 1 22053174 22053174 single base substitution C T intron_variant BRCA-EU 1 22053174 22053174 single base substitution C T upstream_gene_variant BRCA-EU 1 22053691 22053691 single base substitution C T downstream_gene_variant BRCA-EU 1 22053691 22053691 single base substitution C T intron_variant BRCA-EU 1 22053691 22053691 single base substitution C T upstream_gene_variant BRCA-EU 1 22055136 22055136 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 22055136 22055136 single base substitution C G missense_variant K458N 1374G>C BRCA-EU 1 22055136 22055136 single base substitution C G missense_variant K459N 1377G>C BRCA-EU 1 22055136 22055136 single base substitution C G missense_variant K45N 135G>C BRCA-EU 1 22055136 22055136 single base substitution C G missense_variant K81N 243G>C BRCA-EU 1 22055136 22055136 single base substitution C G upstream_gene_variant BRCA-EU 1 22055617 22055617 single base substitution A C intron_variant BRCA-EU 1 22055617 22055617 single base substitution A C upstream_gene_variant BRCA-EU 1 22056568 22056568 single base substitution G A intron_variant BRCA-EU 1 22056568 22056568 single base substitution G A upstream_gene_variant BRCA-EU 1 22056845 22056845 single base substitution G A intron_variant BRCA-EU 1 22056845 22056845 single base substitution G A upstream_gene_variant BRCA-EU 1 22058638 22058638 single base substitution G A intron_variant BRCA-EU 1 22058691 22058691 single base substitution G A intron_variant BRCA-EU 1 22058698 22058698 single base substitution G T intron_variant BRCA-EU 1 22058982 22058982 single base substitution G C intron_variant BRCA-EU 1 22060058 22060058 single base substitution G A intron_variant BRCA-EU 1 22060058 22060058 single base substitution G A upstream_gene_variant BRCA-EU 1 22060292 22060292 single base substitution T C intron_variant BRCA-EU 1 22060292 22060292 single base substitution T C upstream_gene_variant BRCA-EU 1 22061930 22061930 deletion of <=200bp A - intron_variant BRCA-EU 1 22061930 22061930 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 22062709 22062709 single base substitution C T intron_variant BRCA-EU 1 22062709 22062709 single base substitution C T upstream_gene_variant BRCA-EU 1 22063127 22063127 single base substitution A G intron_variant BRCA-EU 1 22063127 22063127 single base substitution A G upstream_gene_variant BRCA-EU 1 22063199 22063199 single base substitution G A intron_variant BRCA-EU 1 22063199 22063199 single base substitution G A upstream_gene_variant BRCA-EU 1 22063672 22063672 single base substitution G C intron_variant BRCA-EU 1 22063672 22063672 single base substitution G C upstream_gene_variant BRCA-EU 1 22064186 22064186 single base substitution G A intron_variant BRCA-EU 1 22064186 22064186 single base substitution G A upstream_gene_variant BRCA-EU 1 22064848 22064848 single base substitution G A intron_variant BRCA-EU 1 22066120 22066120 single base substitution T C intron_variant BRCA-EU 1 22067687 22067687 single base substitution G C intron_variant BRCA-EU 1 22067886 22067886 single base substitution C T intron_variant BRCA-EU 1 22069763 22069763 single base substitution T C intron_variant BRCA-EU 1 22070956 22070956 single base substitution G C intron_variant BRCA-EU 1 22071137 22071137 single base substitution G T intron_variant BRCA-EU 1 22071569 22071569 single base substitution G A intron_variant BRCA-EU 1 22071616 22071616 single base substitution G C intron_variant BRCA-EU 1 22072711 22072711 single base substitution G C intron_variant BRCA-EU 1 22073399 22073399 single base substitution C G intron_variant BRCA-EU 1 22074022 22074022 single base substitution G C intron_variant BRCA-EU 1 22074394 22074394 deletion of <=200bp A - intron_variant BRCA-EU 1 22078227 22078227 single base substitution C G downstream_gene_variant BRCA-EU 1 22078227 22078227 single base substitution C G intron_variant BRCA-EU 1 22078227 22078227 single base substitution C G upstream_gene_variant BRCA-EU 1 22078502 22078502 single base substitution T A downstream_gene_variant BRCA-EU 1 22078502 22078502 single base substitution T A intron_variant BRCA-EU 1 22078502 22078502 single base substitution T A upstream_gene_variant BRCA-EU 1 22082664 22082664 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 22082664 22082664 deletion of <=200bp T - intron_variant BRCA-EU 1 22083864 22083864 single base substitution G C downstream_gene_variant BRCA-EU 1 22083864 22083864 single base substitution G C intron_variant BRCA-EU 1 22084139 22084139 deletion of <=200bp A - exon_variant BRCA-EU 1 22084139 22084139 deletion of <=200bp A - intron_variant BRCA-EU 1 22086457 22086457 single base substitution C T intron_variant BRCA-EU 1 22089127 22089127 single base substitution G T intron_variant BRCA-EU 1 22089800 22089800 single base substitution T C intron_variant BRCA-EU 1 22091367 22091367 single base substitution G A intron_variant BRCA-EU 1 22091431 22091431 single base substitution A G intron_variant BRCA-EU 1 22091749 22091749 single base substitution G C intron_variant BRCA-EU 1 22092352 22092352 single base substitution C T intron_variant BRCA-EU 1 22092627 22092627 single base substitution G A intron_variant BRCA-EU 1 22094390 22094390 single base substitution C A intron_variant BRCA-EU 1 22095020 22095020 single base substitution C A intron_variant BRCA-EU 1 22095168 22095168 deletion of <=200bp C - intron_variant BRCA-EU 1 22095269 22095269 single base substitution G C intron_variant BRCA-EU 1 22096117 22096117 single base substitution C G intron_variant BRCA-EU 1 22098246 22098246 single base substitution C T intron_variant BRCA-EU 1 22098706 22098706 deletion of <=200bp A - intron_variant BRCA-EU 1 22099492 22099492 single base substitution C A intron_variant BRCA-EU 1 22100339 22100339 single base substitution T G intron_variant BRCA-EU 1 22100415 22100415 single base substitution G A intron_variant BRCA-EU 1 22102302 22102302 single base substitution G C intron_variant BRCA-EU 1 22103226 22103226 single base substitution C A intron_variant BRCA-EU 1 22105376 22105376 single base substitution G A intron_variant BRCA-EU 1 22105796 22105796 single base substitution G C intron_variant BRCA-EU 1 22107054 22107054 deletion of <=200bp T - intron_variant BRCA-EU 1 22108079 22108079 single base substitution G T intron_variant BRCA-EU 1 22108983 22108983 single base substitution C T intron_variant BRCA-EU 1 22108983 22108983 single base substitution C T upstream_gene_variant BRCA-EU 1 22109626 22109626 single base substitution C T 5_prime_UTR_variant BRCA-EU 1 22109626 22109626 single base substitution C T upstream_gene_variant BRCA-EU 1 22109676 22109676 single base substitution G T 5_prime_UTR_variant BRCA-EU 1 22109676 22109676 single base substitution G T upstream_gene_variant BRCA-EU 1 22110138 22110138 single base substitution C G upstream_gene_variant BRCA-EU 1 22110853 22110853 single base substitution G C upstream_gene_variant BRCA-EU 1 22111333 22111333 single base substitution A G upstream_gene_variant BRCA-EU 1 22111926 22111926 single base substitution G T upstream_gene_variant BRCA-EU 1 22112127 22112127 single base substitution C G upstream_gene_variant BRCA-EU 1 22112698 22112698 single base substitution C T upstream_gene_variant BRCA-EU 1 22113353 22113353 single base substitution C G upstream_gene_variant BRCA-EU 1 22113399 22113399 single base substitution C T upstream_gene_variant BRCA-EU 1 22113595 22113595 single base substitution C T upstream_gene_variant BRCA-EU 1 22113673 22113673 single base substitution C T upstream_gene_variant BRCA-EU 1 22114578 22114578 single base substitution C G upstream_gene_variant BRCA-EU 1 22114792 22114792 single base substitution G T upstream_gene_variant BRCA-FR 1 22000295 22000295 single base substitution C T downstream_gene_variant BRCA-FR 1 22000423 22000423 single base substitution G A downstream_gene_variant BRCA-FR 1 22013898 22013898 single base substitution T G intron_variant BRCA-FR 1 22032089 22032089 single base substitution A C intron_variant BRCA-FR 1 22032089 22032089 single base substitution A C upstream_gene_variant BRCA-FR 1 22035949 22035949 single base substitution C G intron_variant BRCA-FR 1 22035949 22035949 single base substitution C G upstream_gene_variant BRCA-FR 1 22037955 22037955 single base substitution C A downstream_gene_variant BRCA-FR 1 22037955 22037955 single base substitution C A intron_variant BRCA-FR 1 22052016 22052016 single base substitution G A downstream_gene_variant BRCA-FR 1 22052016 22052016 single base substitution G A intron_variant BRCA-FR 1 22052016 22052016 single base substitution G A upstream_gene_variant BRCA-FR 1 22053174 22053174 single base substitution C T downstream_gene_variant BRCA-FR 1 22053174 22053174 single base substitution C T intron_variant BRCA-FR 1 22053174 22053174 single base substitution C T upstream_gene_variant BRCA-FR 1 22067422 22067422 single base substitution T C intron_variant BRCA-FR 1 22073399 22073399 single base substitution C G intron_variant BRCA-FR 1 22086457 22086457 single base substitution C T intron_variant BRCA-FR 1 22089753 22089753 single base substitution G A intron_variant BRCA-FR 1 22108210 22108210 single base substitution G A intron_variant BRCA-KR 1 22083103 22083103 single base substitution T A 5_prime_UTR_variant BRCA-KR 1 22083103 22083103 single base substitution T A downstream_gene_variant BRCA-KR 1 22083103 22083103 single base substitution T A synonymous_variant A116A 348A>T BRCA-UK 1 22019061 22019061 single base substitution C T intron_variant BRCA-UK 1 22027986 22027986 single base substitution C T splice_region_variant BRCA-UK 1 22066120 22066120 single base substitution T C intron_variant BRCA-UK 1 22074022 22074022 single base substitution G C intron_variant BRCA-US 1 22021687 22021687 single base substitution T C exon_variant BRCA-US 1 22021687 22021687 single base substitution T C intron_variant BRCA-US 1 22021687 22021687 single base substitution T C missense_variant I919V 2755A>G BRCA-US 1 22021687 22021687 single base substitution T C missense_variant I931V 2791A>G BRCA-US 1 22021696 22021696 single base substitution G T exon_variant BRCA-US 1 22021696 22021696 single base substitution G T intron_variant BRCA-US 1 22021696 22021696 single base substitution G T synonymous_variant R916R 2746C>A BRCA-US 1 22021696 22021696 single base substitution G T synonymous_variant R928R 2782C>A BRCA-US 1 22021710 22021710 single base substitution T C exon_variant BRCA-US 1 22021710 22021710 single base substitution T C intron_variant BRCA-US 1 22021710 22021710 single base substitution T C missense_variant N911S 2732A>G BRCA-US 1 22021710 22021710 single base substitution T C missense_variant N923S 2768A>G BRCA-US 1 22032270 22032270 single base substitution G A synonymous_variant H316H 948C>T BRCA-US 1 22032270 22032270 single base substitution G A synonymous_variant H778H 2334C>T BRCA-US 1 22032270 22032270 single base substitution G A synonymous_variant H790H 2370C>T BRCA-US 1 22032270 22032270 single base substitution G A upstream_gene_variant BRCA-US 1 22073561 22073561 deletion of <=200bp T - frameshift_variant K330 BRCA-US 1 22073561 22073561 deletion of <=200bp T - splice_region_variant BRCA-US 1 22073596 22073596 single base substitution C A exon_variant BRCA-US 1 22073596 22073596 single base substitution C A stop_gained E319* 955G>T BRCA-US 1 22084134 22084134 single base substitution C T exon_variant BRCA-US 1 22084134 22084134 single base substitution C T intron_variant BRCA-US 1 22084163 22084163 single base substitution C G 5_prime_UTR_variant BRCA-US 1 22084163 22084163 single base substitution C G exon_variant BRCA-US 1 22084163 22084163 single base substitution C G missense_variant R83T 248G>C BRCA-US 1 22084186 22084186 single base substitution G T 5_prime_UTR_variant BRCA-US 1 22084186 22084186 single base substitution G T exon_variant BRCA-US 1 22084186 22084186 single base substitution G T synonymous_variant I75I 225C>A BTCA-JP 1 22007220 22007220 single base substitution T G intron_variant BTCA-JP 1 22007299 22007299 single base substitution A G splice_donor_variant BTCA-JP 1 22027808 22027808 single base substitution G A intron_variant BTCA-JP 1 22033280 22033280 single base substitution G T missense_variant A220D 659C>A BTCA-JP 1 22033280 22033280 single base substitution G T missense_variant A682D 2045C>A BTCA-JP 1 22033280 22033280 single base substitution G T missense_variant A694D 2081C>A BTCA-JP 1 22033280 22033280 single base substitution G T upstream_gene_variant BTCA-JP 1 22054981 22054981 single base substitution A T 3_prime_UTR_variant BTCA-JP 1 22054981 22054981 single base substitution A T downstream_gene_variant BTCA-JP 1 22054981 22054981 single base substitution A T intron_variant BTCA-JP 1 22054981 22054981 single base substitution A T upstream_gene_variant BTCA-JP 1 22084090 22084090 single base substitution C T exon_variant BTCA-JP 1 22084090 22084090 single base substitution C T intron_variant CESC-US 1 22021695 22021695 single base substitution C T exon_variant CESC-US 1 22021695 22021695 single base substitution C T intron_variant CESC-US 1 22021695 22021695 single base substitution C T missense_variant R916Q 2747G>A CESC-US 1 22021695 22021695 single base substitution C T missense_variant R928Q 2783G>A CESC-US 1 22032632 22032632 single base substitution G A missense_variant R292W 874C>T CESC-US 1 22032632 22032632 single base substitution G A missense_variant R754W 2260C>T CESC-US 1 22032632 22032632 single base substitution G A missense_variant R766W 2296C>T CESC-US 1 22032632 22032632 single base substitution G A upstream_gene_variant CESC-US 1 22033386 22033386 deletion of <=200bp A - frameshift_variant S659 CESC-US 1 22033386 22033386 deletion of <=200bp A - intron_variant CESC-US 1 22033386 22033386 deletion of <=200bp A - upstream_gene_variant CESC-US 1 22050544 22050544 single base substitution C G downstream_gene_variant CESC-US 1 22050544 22050544 single base substitution C G exon_variant CESC-US 1 22050544 22050544 single base substitution C G missense_variant D121H 361G>C CESC-US 1 22050544 22050544 single base substitution C G missense_variant D38H 112G>C CESC-US 1 22050544 22050544 single base substitution C G missense_variant D498H 1492G>C CESC-US 1 22050544 22050544 single base substitution C G missense_variant D499H 1495G>C CESC-US 1 22050544 22050544 single base substitution C G missense_variant D85H 253G>C CESC-US 1 22050544 22050544 single base substitution C G upstream_gene_variant CESC-US 1 22055105 22055105 single base substitution C T 3_prime_UTR_variant CESC-US 1 22055105 22055105 single base substitution C T missense_variant E469K 1405G>A CESC-US 1 22055105 22055105 single base substitution C T missense_variant E470K 1408G>A CESC-US 1 22055105 22055105 single base substitution C T missense_variant E56K 166G>A CESC-US 1 22055105 22055105 single base substitution C T missense_variant E92K 274G>A CESC-US 1 22055105 22055105 single base substitution C T upstream_gene_variant CESC-US 1 22055156 22055156 single base substitution C G 3_prime_UTR_variant CESC-US 1 22055156 22055156 single base substitution C G missense_variant E39Q 115G>C CESC-US 1 22055156 22055156 single base substitution C G missense_variant E452Q 1354G>C CESC-US 1 22055156 22055156 single base substitution C G missense_variant E453Q 1357G>C CESC-US 1 22055156 22055156 single base substitution C G missense_variant E75Q 223G>C CESC-US 1 22055156 22055156 single base substitution C G upstream_gene_variant CESC-US 1 22056230 22056230 single base substitution G C 3_prime_UTR_variant CESC-US 1 22056230 22056230 single base substitution G C missense_variant Q422E 1264C>G CESC-US 1 22056230 22056230 single base substitution G C missense_variant Q423E 1267C>G CESC-US 1 22056230 22056230 single base substitution G C missense_variant Q45E 133C>G CESC-US 1 22056230 22056230 single base substitution G C missense_variant Q9E 25C>G CESC-US 1 22056230 22056230 single base substitution G C upstream_gene_variant CESC-US 1 22056234 22056234 single base substitution T C 3_prime_UTR_variant CESC-US 1 22056234 22056234 single base substitution T C synonymous_variant Q420Q 1260A>G CESC-US 1 22056234 22056234 single base substitution T C synonymous_variant Q421Q 1263A>G CESC-US 1 22056234 22056234 single base substitution T C synonymous_variant Q43Q 129A>G CESC-US 1 22056234 22056234 single base substitution T C synonymous_variant Q7Q 21A>G CESC-US 1 22056234 22056234 single base substitution T C upstream_gene_variant CLLE-ES 1 22004588 22004588 single base substitution A G downstream_gene_variant CLLE-ES 1 22037716 22037716 single base substitution T C downstream_gene_variant CLLE-ES 1 22037716 22037716 single base substitution T C intron_variant CLLE-ES 1 22048997 22048997 single base substitution A G downstream_gene_variant CLLE-ES 1 22048997 22048997 single base substitution A G intron_variant CLLE-ES 1 22048997 22048997 single base substitution A G upstream_gene_variant CLLE-ES 1 22049233 22049233 single base substitution A C downstream_gene_variant CLLE-ES 1 22049233 22049233 single base substitution A C intron_variant CLLE-ES 1 22049233 22049233 single base substitution A C upstream_gene_variant CLLE-ES 1 22059805 22059806 multiple base substitution (>=2bp and <=200bp) GA AG intron_variant CLLE-ES 1 22059805 22059806 multiple base substitution (>=2bp and <=200bp) GA AG upstream_gene_variant CLLE-ES 1 22063422 22063422 single base substitution C T intron_variant CLLE-ES 1 22063422 22063422 single base substitution C T upstream_gene_variant CLLE-ES 1 22074814 22074814 single base substitution C T downstream_gene_variant CLLE-ES 1 22074814 22074814 single base substitution C T intron_variant CLLE-ES 1 22074814 22074814 single base substitution C T upstream_gene_variant CLLE-ES 1 22090137 22090137 single base substitution T C intron_variant CLLE-ES 1 22092455 22092455 single base substitution G A intron_variant CLLE-ES 1 22105115 22105115 single base substitution A G intron_variant COAD-US 1 22016496 22016496 single base substitution C T exon_variant COAD-US 1 22016496 22016496 single base substitution C T missense_variant V1006I 3016G>A COAD-US 1 22016496 22016496 single base substitution C T missense_variant V480I 1438G>A COAD-US 1 22016496 22016496 single base substitution C T missense_variant V942I 2824G>A COAD-US 1 22016496 22016496 single base substitution C T missense_variant V994I 2980G>A COAD-US 1 22032310 22032310 single base substitution G T missense_variant P303H 908C>A COAD-US 1 22032310 22032310 single base substitution G T missense_variant P765H 2294C>A COAD-US 1 22032310 22032310 single base substitution G T missense_variant P777H 2330C>A COAD-US 1 22032310 22032310 single base substitution G T upstream_gene_variant COAD-US 1 22032619 22032619 single base substitution C T missense_variant R296K 887G>A COAD-US 1 22032619 22032619 single base substitution C T missense_variant R758K 2273G>A COAD-US 1 22032619 22032619 single base substitution C T missense_variant R770K 2309G>A COAD-US 1 22032619 22032619 single base substitution C T upstream_gene_variant COAD-US 1 22047552 22047552 single base substitution A G downstream_gene_variant COAD-US 1 22047552 22047552 single base substitution A G exon_variant COAD-US 1 22047552 22047552 single base substitution A G missense_variant M162T 485T>C COAD-US 1 22047552 22047552 single base substitution A G missense_variant M623T 1868T>C COAD-US 1 22047552 22047552 single base substitution A G missense_variant M624T 1871T>C COAD-US 1 22056235 22056235 single base substitution T C 3_prime_UTR_variant COAD-US 1 22056235 22056235 single base substitution T C missense_variant Q420R 1259A>G COAD-US 1 22056235 22056235 single base substitution T C missense_variant Q421R 1262A>G COAD-US 1 22056235 22056235 single base substitution T C missense_variant Q43R 128A>G COAD-US 1 22056235 22056235 single base substitution T C missense_variant Q7R 20A>G COAD-US 1 22056235 22056235 single base substitution T C upstream_gene_variant COAD-US 1 22062982 22062982 single base substitution C A exon_variant COAD-US 1 22062982 22062982 single base substitution C A missense_variant K376N 1128G>T COAD-US 1 22062982 22062982 single base substitution C A upstream_gene_variant COAD-US 1 22063040 22063040 single base substitution T C exon_variant COAD-US 1 22063040 22063040 single base substitution T C missense_variant H357R 1070A>G COAD-US 1 22063040 22063040 single base substitution T C upstream_gene_variant COAD-US 1 22078013 22078013 single base substitution G A downstream_gene_variant COAD-US 1 22078013 22078013 single base substitution G A missense_variant S254L 761C>T COAD-US 1 22078013 22078013 single base substitution G A upstream_gene_variant COAD-US 1 22083149 22083149 single base substitution T C 5_prime_UTR_variant COAD-US 1 22083149 22083149 single base substitution T C downstream_gene_variant COAD-US 1 22083149 22083149 single base substitution T C missense_variant N101S 302A>G COAD-US 1 22084201 22084201 single base substitution A G 5_prime_UTR_variant COAD-US 1 22084201 22084201 single base substitution A G exon_variant COAD-US 1 22084201 22084201 single base substitution A G synonymous_variant N70N 210T>C COAD-US 1 22084234 22084234 single base substitution A G 5_prime_UTR_variant COAD-US 1 22084234 22084234 single base substitution A G exon_variant COAD-US 1 22084234 22084234 single base substitution A G synonymous_variant G59G 177T>C COAD-US 1 22109324 22109324 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COAD-US 1 22109324 22109324 single base substitution C T exon_variant COAD-US 1 22109324 22109324 single base substitution C T missense_variant V43M 127G>A COAD-US 1 22109324 22109324 single base substitution C T upstream_gene_variant COCA-CN 1 22013561 22013561 single base substitution C A exon_variant COCA-CN 1 22013561 22013561 single base substitution C A intron_variant COCA-CN 1 22030808 22030808 single base substitution C T exon_variant COCA-CN 1 22030808 22030808 single base substitution C T missense_variant R359K 1076G>A COCA-CN 1 22030808 22030808 single base substitution C T missense_variant R821K 2462G>A COCA-CN 1 22030808 22030808 single base substitution C T missense_variant R833K 2498G>A COCA-CN 1 22056182 22056182 single base substitution G A intron_variant COCA-CN 1 22056182 22056182 single base substitution G A upstream_gene_variant COCA-CN 1 22074644 22074644 single base substitution A C downstream_gene_variant COCA-CN 1 22074644 22074644 single base substitution A C exon_variant COCA-CN 1 22074644 22074644 single base substitution A C missense_variant F299V 895T>G COCA-CN 1 22084274 22084274 single base substitution C T missense_variant R46Q 137G>A COCA-CN 1 22084274 22084274 single base substitution C T splice_region_variant COCA-CN 1 22109370 22109370 single base substitution G A 5_prime_UTR_variant COCA-CN 1 22109370 22109370 single base substitution G A exon_variant COCA-CN 1 22109370 22109370 single base substitution G A synonymous_variant H27H 81C>T COCA-CN 1 22109370 22109370 single base substitution G A upstream_gene_variant EOPC-DE 1 22008369 22008369 single base substitution T A downstream_gene_variant EOPC-DE 1 22008369 22008369 single base substitution T A intron_variant EOPC-DE 1 22008369 22008369 single base substitution T A upstream_gene_variant EOPC-DE 1 22110877 22110877 single base substitution A C upstream_gene_variant ESAD-UK 1 22005349 22005349 single base substitution G C 3_prime_UTR_variant ESAD-UK 1 22005349 22005349 single base substitution G C downstream_gene_variant ESAD-UK 1 22006310 22006310 single base substitution C T intron_variant ESAD-UK 1 22006336 22006336 single base substitution G A intron_variant ESAD-UK 1 22006969 22006969 single base substitution G A intron_variant ESAD-UK 1 22007760 22007760 single base substitution A G downstream_gene_variant ESAD-UK 1 22007760 22007760 single base substitution A G intron_variant ESAD-UK 1 22007760 22007760 single base substitution A G upstream_gene_variant ESAD-UK 1 22009277 22009277 single base substitution A C downstream_gene_variant ESAD-UK 1 22009277 22009277 single base substitution A C intron_variant ESAD-UK 1 22009277 22009277 single base substitution A C upstream_gene_variant ESAD-UK 1 22009925 22009925 single base substitution T C downstream_gene_variant ESAD-UK 1 22009925 22009925 single base substitution T C intron_variant ESAD-UK 1 22009925 22009925 single base substitution T C upstream_gene_variant ESAD-UK 1 22010749 22010749 single base substitution C T downstream_gene_variant ESAD-UK 1 22010749 22010749 single base substitution C T intron_variant ESAD-UK 1 22010749 22010749 single base substitution C T upstream_gene_variant ESAD-UK 1 22012803 22012803 single base substitution T A exon_variant ESAD-UK 1 22012803 22012803 single base substitution T A intron_variant ESAD-UK 1 22012884 22012884 single base substitution G A exon_variant ESAD-UK 1 22012884 22012884 single base substitution G A intron_variant ESAD-UK 1 22017546 22017546 single base substitution G A intron_variant ESAD-UK 1 22022537 22022537 single base substitution G A intron_variant ESAD-UK 1 22022825 22022825 insertion of <=200bp - G intron_variant ESAD-UK 1 22023094 22023094 single base substitution G A intron_variant ESAD-UK 1 22027732 22027732 single base substitution G A intron_variant ESAD-UK 1 22030716 22030716 single base substitution C G intron_variant ESAD-UK 1 22032089 22032089 single base substitution A C intron_variant ESAD-UK 1 22032089 22032089 single base substitution A C upstream_gene_variant ESAD-UK 1 22033996 22033996 single base substitution C G intron_variant ESAD-UK 1 22033996 22033996 single base substitution C G upstream_gene_variant ESAD-UK 1 22035057 22035057 single base substitution T C intron_variant ESAD-UK 1 22035057 22035057 single base substitution T C upstream_gene_variant ESAD-UK 1 22039583 22039583 single base substitution C G downstream_gene_variant ESAD-UK 1 22039583 22039583 single base substitution C G intron_variant ESAD-UK 1 22040003 22040003 single base substitution G A downstream_gene_variant ESAD-UK 1 22040003 22040003 single base substitution G A intron_variant ESAD-UK 1 22044378 22044378 single base substitution G A downstream_gene_variant ESAD-UK 1 22044378 22044378 single base substitution G A intron_variant ESAD-UK 1 22044562 22044565 deletion of <=200bp GTAA - downstream_gene_variant ESAD-UK 1 22044562 22044565 deletion of <=200bp GTAA - intron_variant ESAD-UK 1 22051019 22051019 single base substitution T G 5_prime_UTR_variant ESAD-UK 1 22051019 22051019 single base substitution T G downstream_gene_variant ESAD-UK 1 22051019 22051019 single base substitution T G intron_variant ESAD-UK 1 22051019 22051019 single base substitution T G upstream_gene_variant ESAD-UK 1 22051840 22051840 single base substitution T G downstream_gene_variant ESAD-UK 1 22051840 22051840 single base substitution T G intron_variant ESAD-UK 1 22051840 22051840 single base substitution T G upstream_gene_variant ESAD-UK 1 22053922 22053922 single base substitution C T downstream_gene_variant ESAD-UK 1 22053922 22053922 single base substitution C T intron_variant ESAD-UK 1 22053922 22053922 single base substitution C T upstream_gene_variant ESAD-UK 1 22060422 22060422 single base substitution T C intron_variant ESAD-UK 1 22060422 22060422 single base substitution T C upstream_gene_variant ESAD-UK 1 22061207 22061207 single base substitution C T intron_variant ESAD-UK 1 22061207 22061207 single base substitution C T upstream_gene_variant ESAD-UK 1 22062160 22062160 single base substitution T A intron_variant ESAD-UK 1 22062160 22062160 single base substitution T A upstream_gene_variant ESAD-UK 1 22068731 22068731 single base substitution G A intron_variant ESAD-UK 1 22069065 22069065 deletion of <=200bp A - intron_variant ESAD-UK 1 22069418 22069418 single base substitution G A intron_variant ESAD-UK 1 22070822 22070822 single base substitution C A intron_variant ESAD-UK 1 22075062 22075062 single base substitution A C downstream_gene_variant ESAD-UK 1 22075062 22075062 single base substitution A C intron_variant ESAD-UK 1 22075062 22075062 single base substitution A C upstream_gene_variant ESAD-UK 1 22077179 22077179 single base substitution G A downstream_gene_variant ESAD-UK 1 22077179 22077179 single base substitution G A intron_variant ESAD-UK 1 22077179 22077179 single base substitution G A upstream_gene_variant ESAD-UK 1 22078015 22078015 single base substitution G A downstream_gene_variant ESAD-UK 1 22078015 22078015 single base substitution G A synonymous_variant I253I 759C>T ESAD-UK 1 22078015 22078015 single base substitution G A upstream_gene_variant ESAD-UK 1 22078362 22078362 single base substitution T C downstream_gene_variant ESAD-UK 1 22078362 22078362 single base substitution T C intron_variant ESAD-UK 1 22078362 22078362 single base substitution T C upstream_gene_variant ESAD-UK 1 22082791 22082791 single base substitution T A downstream_gene_variant ESAD-UK 1 22082791 22082791 single base substitution T A intron_variant ESAD-UK 1 22084633 22084633 single base substitution A G intron_variant ESAD-UK 1 22086416 22086416 single base substitution T C intron_variant ESAD-UK 1 22087117 22087117 single base substitution G A intron_variant ESAD-UK 1 22087916 22087916 single base substitution C T intron_variant ESAD-UK 1 22089968 22089968 single base substitution T C intron_variant ESAD-UK 1 22098754 22098754 single base substitution T C intron_variant ESAD-UK 1 22098856 22098856 single base substitution C T intron_variant ESAD-UK 1 22104701 22104701 single base substitution A T intron_variant ESAD-UK 1 22105766 22105766 single base substitution G A intron_variant ESAD-UK 1 22107713 22107713 single base substitution A C intron_variant ESAD-UK 1 22109803 22109803 single base substitution G A 5_prime_UTR_variant ESAD-UK 1 22109803 22109803 single base substitution G A upstream_gene_variant ESAD-UK 1 22111210 22111210 single base substitution G A upstream_gene_variant ESAD-UK 1 22114305 22114305 single base substitution G C upstream_gene_variant ESAD-UK 1 22114612 22114612 single base substitution C A upstream_gene_variant ESAD-UK 1 22114972 22114972 single base substitution C T upstream_gene_variant ESCA-CN 1 22021660 22021660 single base substitution G C exon_variant ESCA-CN 1 22021660 22021660 single base substitution G C intron_variant ESCA-CN 1 22021660 22021660 single base substitution G C missense_variant Q928E 2782C>G ESCA-CN 1 22021660 22021660 single base substitution G C missense_variant Q940E 2818C>G ESCA-CN 1 22047598 22047598 single base substitution G A downstream_gene_variant ESCA-CN 1 22047598 22047598 single base substitution G A exon_variant ESCA-CN 1 22047598 22047598 single base substitution G A stop_gained Q147* 439C>T ESCA-CN 1 22047598 22047598 single base substitution G A stop_gained Q608* 1822C>T ESCA-CN 1 22047598 22047598 single base substitution G A stop_gained Q609* 1825C>T KIRC-US 1 22032266 22032266 single base substitution C G missense_variant G318R 952G>C KIRC-US 1 22032266 22032266 single base substitution C G missense_variant G780R 2338G>C KIRC-US 1 22032266 22032266 single base substitution C G missense_variant G792R 2374G>C KIRC-US 1 22032266 22032266 single base substitution C G upstream_gene_variant KIRC-US 1 22032286 22032286 single base substitution G A missense_variant A311V 932C>T KIRC-US 1 22032286 22032286 single base substitution G A missense_variant A773V 2318C>T KIRC-US 1 22032286 22032286 single base substitution G A missense_variant A785V 2354C>T KIRC-US 1 22032286 22032286 single base substitution G A upstream_gene_variant KIRC-US 1 22079531 22079531 single base substitution G T downstream_gene_variant KIRC-US 1 22079531 22079531 single base substitution G T missense_variant P165Q 494C>A KIRC-US 1 22079531 22079531 single base substitution G T missense_variant P38Q 113C>A KIRC-US 1 22079531 22079531 single base substitution G T upstream_gene_variant KIRP-US 1 22073615 22073615 single base substitution A G exon_variant KIRP-US 1 22073615 22073615 single base substitution A G synonymous_variant N312N 936T>C LAML-KR 1 22002540 22002540 single base substitution T C downstream_gene_variant LAML-KR 1 22024088 22024088 single base substitution A G intron_variant LAML-KR 1 22025815 22025815 single base substitution T C intron_variant LAML-KR 1 22025834 22025834 single base substitution G A intron_variant LAML-KR 1 22063149 22063149 single base substitution G A intron_variant LAML-KR 1 22063149 22063149 single base substitution G A upstream_gene_variant LAML-KR 1 22082695 22082695 single base substitution T C downstream_gene_variant LAML-KR 1 22082695 22082695 single base substitution T C intron_variant LAML-KR 1 22082698 22082698 single base substitution A G downstream_gene_variant LAML-KR 1 22082698 22082698 single base substitution A G intron_variant LAML-KR 1 22107254 22107254 single base substitution G T intron_variant LICA-FR 1 22001754 22001754 single base substitution T C downstream_gene_variant LICA-FR 1 22008340 22008340 single base substitution T G downstream_gene_variant LICA-FR 1 22008340 22008340 single base substitution T G intron_variant LICA-FR 1 22008340 22008340 single base substitution T G upstream_gene_variant LICA-FR 1 22008836 22008836 single base substitution T G downstream_gene_variant LICA-FR 1 22008836 22008836 single base substitution T G intron_variant LICA-FR 1 22008836 22008836 single base substitution T G upstream_gene_variant LICA-FR 1 22008879 22008879 single base substitution T G downstream_gene_variant LICA-FR 1 22008879 22008879 single base substitution T G intron_variant LICA-FR 1 22008879 22008879 single base substitution T G upstream_gene_variant LICA-FR 1 22008880 22008880 single base substitution G C downstream_gene_variant LICA-FR 1 22008880 22008880 single base substitution G C intron_variant LICA-FR 1 22008880 22008880 single base substitution G C upstream_gene_variant LICA-FR 1 22009146 22009146 single base substitution G C downstream_gene_variant LICA-FR 1 22009146 22009146 single base substitution G C intron_variant LICA-FR 1 22009146 22009146 single base substitution G C upstream_gene_variant LICA-FR 1 22062959 22062959 single base substitution A G exon_variant LICA-FR 1 22062959 22062959 single base substitution A G missense_variant L384P 1151T>C LICA-FR 1 22062959 22062959 single base substitution A G upstream_gene_variant LICA-FR 1 22066385 22066385 single base substitution T C intron_variant LICA-FR 1 22074753 22074753 single base substitution T A downstream_gene_variant LICA-FR 1 22074753 22074753 single base substitution T A missense_variant L262F 786A>T LICA-FR 1 22074753 22074753 single base substitution T A upstream_gene_variant LICA-FR 1 22089306 22089306 single base substitution C A intron_variant LIHC-US 1 22016544 22016544 single base substitution C T exon_variant LIHC-US 1 22016544 22016544 single base substitution C T missense_variant D464N 1390G>A LIHC-US 1 22016544 22016544 single base substitution C T missense_variant D926N 2776G>A LIHC-US 1 22016544 22016544 single base substitution C T missense_variant D978N 2932G>A LIHC-US 1 22016544 22016544 single base substitution C T missense_variant D990N 2968G>A LIHC-US 1 22021689 22021689 deletion of <=200bp T - exon_variant LIHC-US 1 22021689 22021689 deletion of <=200bp T - frameshift_variant K918 LIHC-US 1 22021689 22021689 deletion of <=200bp T - frameshift_variant K930 LIHC-US 1 22021689 22021689 deletion of <=200bp T - intron_variant LIHC-US 1 22050539 22050539 single base substitution T C downstream_gene_variant LIHC-US 1 22050539 22050539 single base substitution T C exon_variant LIHC-US 1 22050539 22050539 single base substitution T C synonymous_variant E122E 366A>G LIHC-US 1 22050539 22050539 single base substitution T C synonymous_variant E39E 117A>G LIHC-US 1 22050539 22050539 single base substitution T C synonymous_variant E499E 1497A>G LIHC-US 1 22050539 22050539 single base substitution T C synonymous_variant E500E 1500A>G LIHC-US 1 22050539 22050539 single base substitution T C synonymous_variant E86E 258A>G LIHC-US 1 22050539 22050539 single base substitution T C upstream_gene_variant LIHC-US 1 22083087 22083087 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant LIHC-US 1 22083087 22083087 single base substitution T A downstream_gene_variant LIHC-US 1 22083087 22083087 single base substitution T A missense_variant S122C 364A>T LIHC-US 1 22084166 22084166 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant LIHC-US 1 22084166 22084166 single base substitution C A exon_variant LIHC-US 1 22084166 22084166 single base substitution C A missense_variant R82M 245G>T LIHC-US 1 22084236 22084236 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant LIHC-US 1 22084236 22084236 single base substitution C A exon_variant LIHC-US 1 22084236 22084236 single base substitution C A missense_variant G59C 175G>T LIHC-US 1 22084268 22084268 single base substitution C T 5_prime_UTR_variant LIHC-US 1 22084268 22084268 single base substitution C T exon_variant LIHC-US 1 22084268 22084268 single base substitution C T missense_variant C48Y 143G>A LINC-JP 1 22000103 22000103 single base substitution C G downstream_gene_variant LINC-JP 1 22001351 22001351 single base substitution A G downstream_gene_variant LINC-JP 1 22002552 22002552 single base substitution T C downstream_gene_variant LINC-JP 1 22005914 22005914 single base substitution T C exon_variant LINC-JP 1 22005914 22005914 single base substitution T C missense_variant H1035R 3104A>G LINC-JP 1 22005914 22005914 single base substitution T C missense_variant H1047R 3140A>G LINC-JP 1 22005914 22005914 single base substitution T C missense_variant H521R 1562A>G LINC-JP 1 22005914 22005914 single base substitution T C missense_variant H983R 2948A>G LINC-JP 1 22007365 22007365 single base substitution A C exon_variant LINC-JP 1 22007365 22007365 single base substitution A C intron_variant LINC-JP 1 22008734 22008734 single base substitution G T downstream_gene_variant LINC-JP 1 22008734 22008734 single base substitution G T intron_variant LINC-JP 1 22008734 22008734 single base substitution G T upstream_gene_variant LINC-JP 1 22016666 22016666 single base substitution T C intron_variant LINC-JP 1 22027875 22027875 single base substitution G A intron_variant LINC-JP 1 22030619 22030619 single base substitution T C intron_variant LINC-JP 1 22032077 22032077 single base substitution G A intron_variant LINC-JP 1 22032077 22032077 single base substitution G A upstream_gene_variant LINC-JP 1 22032081 22032081 single base substitution A G intron_variant LINC-JP 1 22032081 22032081 single base substitution A G upstream_gene_variant LINC-JP 1 22038117 22038117 single base substitution A G downstream_gene_variant LINC-JP 1 22038117 22038117 single base substitution A G intron_variant LINC-JP 1 22041444 22041444 single base substitution G A downstream_gene_variant LINC-JP 1 22041444 22041444 single base substitution G A intron_variant LINC-JP 1 22043731 22043731 single base substitution T C downstream_gene_variant LINC-JP 1 22043731 22043731 single base substitution T C intron_variant LINC-JP 1 22050452 22050452 single base substitution C A downstream_gene_variant LINC-JP 1 22050452 22050452 single base substitution C A exon_variant LINC-JP 1 22050452 22050452 single base substitution C A missense_variant R115S 345G>T LINC-JP 1 22050452 22050452 single base substitution C A missense_variant R528S 1584G>T LINC-JP 1 22050452 22050452 single base substitution C A missense_variant R529S 1587G>T LINC-JP 1 22050452 22050452 single base substitution C A missense_variant R68S 204G>T LINC-JP 1 22050452 22050452 single base substitution C A upstream_gene_variant LINC-JP 1 22066870 22066870 single base substitution G T intron_variant LINC-JP 1 22073571 22073571 single base substitution A T exon_variant LINC-JP 1 22073571 22073571 single base substitution A T missense_variant V327E 980T>A LINC-JP 1 22074345 22074345 single base substitution C T intron_variant LINC-JP 1 22074789 22074789 single base substitution T C downstream_gene_variant LINC-JP 1 22074789 22074789 single base substitution T C intron_variant LINC-JP 1 22074789 22074789 single base substitution T C upstream_gene_variant LINC-JP 1 22078223 22078223 single base substitution T C downstream_gene_variant LINC-JP 1 22078223 22078223 single base substitution T C intron_variant LINC-JP 1 22078223 22078223 single base substitution T C upstream_gene_variant LINC-JP 1 22084294 22084294 single base substitution A C intron_variant LIRI-JP 1 22000355 22000355 single base substitution A T downstream_gene_variant LIRI-JP 1 22001984 22001984 single base substitution C T downstream_gene_variant LIRI-JP 1 22003480 22003480 single base substitution T C downstream_gene_variant LIRI-JP 1 22003583 22003583 single base substitution A G downstream_gene_variant LIRI-JP 1 22004028 22004028 single base substitution T C downstream_gene_variant LIRI-JP 1 22007122 22007122 single base substitution C T intron_variant LIRI-JP 1 22007481 22007481 single base substitution T C downstream_gene_variant LIRI-JP 1 22007481 22007481 single base substitution T C exon_variant LIRI-JP 1 22007481 22007481 single base substitution T C intron_variant LIRI-JP 1 22008504 22008504 single base substitution C T downstream_gene_variant LIRI-JP 1 22008504 22008504 single base substitution C T intron_variant LIRI-JP 1 22008504 22008504 single base substitution C T upstream_gene_variant LIRI-JP 1 22010676 22010676 single base substitution T A downstream_gene_variant LIRI-JP 1 22010676 22010676 single base substitution T A intron_variant LIRI-JP 1 22010676 22010676 single base substitution T A upstream_gene_variant LIRI-JP 1 22010967 22010967 single base substitution T A downstream_gene_variant LIRI-JP 1 22010967 22010967 single base substitution T A intron_variant LIRI-JP 1 22010967 22010967 single base substitution T A upstream_gene_variant LIRI-JP 1 22011370 22011370 single base substitution T C downstream_gene_variant LIRI-JP 1 22011370 22011370 single base substitution T C intron_variant LIRI-JP 1 22011370 22011370 single base substitution T C upstream_gene_variant LIRI-JP 1 22013354 22013354 single base substitution T C exon_variant LIRI-JP 1 22013354 22013354 single base substitution T C intron_variant LIRI-JP 1 22018610 22018610 single base substitution T A intron_variant LIRI-JP 1 22023157 22023157 single base substitution T C intron_variant LIRI-JP 1 22023215 22023215 single base substitution A G intron_variant LIRI-JP 1 22026256 22026256 single base substitution G A intron_variant LIRI-JP 1 22026509 22026509 single base substitution A C intron_variant LIRI-JP 1 22026985 22026985 single base substitution T C intron_variant LIRI-JP 1 22028598 22028598 single base substitution C A intron_variant LIRI-JP 1 22030491 22030491 single base substitution T C intron_variant LIRI-JP 1 22037092 22037092 single base substitution T C downstream_gene_variant LIRI-JP 1 22037092 22037092 single base substitution T C intron_variant LIRI-JP 1 22037853 22037853 single base substitution G T downstream_gene_variant LIRI-JP 1 22037853 22037853 single base substitution G T intron_variant LIRI-JP 1 22041453 22041453 single base substitution T C downstream_gene_variant LIRI-JP 1 22041453 22041453 single base substitution T C intron_variant LIRI-JP 1 22044774 22044774 single base substitution T C downstream_gene_variant LIRI-JP 1 22044774 22044774 single base substitution T C intron_variant LIRI-JP 1 22047652 22047652 single base substitution C T downstream_gene_variant LIRI-JP 1 22047652 22047652 single base substitution C T exon_variant LIRI-JP 1 22047652 22047652 single base substitution C T missense_variant G129R 385G>A LIRI-JP 1 22047652 22047652 single base substitution C T missense_variant G590R 1768G>A LIRI-JP 1 22047652 22047652 single base substitution C T missense_variant G591R 1771G>A LIRI-JP 1 22047652 22047652 single base substitution C T upstream_gene_variant LIRI-JP 1 22050833 22050833 single base substitution T G 5_prime_UTR_variant LIRI-JP 1 22050833 22050833 single base substitution T G downstream_gene_variant LIRI-JP 1 22050833 22050833 single base substitution T G intron_variant LIRI-JP 1 22050833 22050833 single base substitution T G upstream_gene_variant LIRI-JP 1 22051227 22051227 single base substitution C T 5_prime_UTR_variant LIRI-JP 1 22051227 22051227 single base substitution C T downstream_gene_variant LIRI-JP 1 22051227 22051227 single base substitution C T intron_variant LIRI-JP 1 22051227 22051227 single base substitution C T upstream_gene_variant LIRI-JP 1 22052659 22052659 single base substitution G A downstream_gene_variant LIRI-JP 1 22052659 22052659 single base substitution G A intron_variant LIRI-JP 1 22052659 22052659 single base substitution G A upstream_gene_variant LIRI-JP 1 22054797 22054797 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 22054797 22054797 single base substitution T C downstream_gene_variant LIRI-JP 1 22054797 22054797 single base substitution T C intron_variant LIRI-JP 1 22054797 22054797 single base substitution T C upstream_gene_variant LIRI-JP 1 22056230 22056230 single base substitution G C 3_prime_UTR_variant LIRI-JP 1 22056230 22056230 single base substitution G C missense_variant Q422E 1264C>G LIRI-JP 1 22056230 22056230 single base substitution G C missense_variant Q423E 1267C>G LIRI-JP 1 22056230 22056230 single base substitution G C missense_variant Q45E 133C>G LIRI-JP 1 22056230 22056230 single base substitution G C missense_variant Q9E 25C>G LIRI-JP 1 22056230 22056230 single base substitution G C upstream_gene_variant LIRI-JP 1 22057362 22057362 single base substitution T C intron_variant LIRI-JP 1 22057362 22057362 single base substitution T C upstream_gene_variant LIRI-JP 1 22057725 22057725 single base substitution T C intron_variant LIRI-JP 1 22057725 22057725 single base substitution T C upstream_gene_variant LIRI-JP 1 22058577 22058577 single base substitution T C intron_variant LIRI-JP 1 22059106 22059106 single base substitution T C intron_variant LIRI-JP 1 22061192 22061192 single base substitution A G intron_variant LIRI-JP 1 22061192 22061192 single base substitution A G upstream_gene_variant LIRI-JP 1 22061712 22061712 single base substitution C T intron_variant LIRI-JP 1 22061712 22061712 single base substitution C T upstream_gene_variant LIRI-JP 1 22061925 22061925 single base substitution T C intron_variant LIRI-JP 1 22061925 22061925 single base substitution T C upstream_gene_variant LIRI-JP 1 22062657 22062657 single base substitution G T intron_variant LIRI-JP 1 22062657 22062657 single base substitution G T upstream_gene_variant LIRI-JP 1 22063254 22063254 single base substitution T C intron_variant LIRI-JP 1 22063254 22063254 single base substitution T C upstream_gene_variant LIRI-JP 1 22063413 22063413 single base substitution C G intron_variant LIRI-JP 1 22063413 22063413 single base substitution C G upstream_gene_variant LIRI-JP 1 22066085 22066085 single base substitution T C intron_variant LIRI-JP 1 22068229 22068229 single base substitution T C intron_variant LIRI-JP 1 22068625 22068625 single base substitution G C intron_variant LIRI-JP 1 22069603 22069603 single base substitution T C intron_variant LIRI-JP 1 22070038 22070038 single base substitution G C intron_variant LIRI-JP 1 22071388 22071388 single base substitution A G intron_variant LIRI-JP 1 22071414 22071414 single base substitution T C intron_variant LIRI-JP 1 22073373 22073373 single base substitution T C intron_variant LIRI-JP 1 22074747 22074747 single base substitution T C downstream_gene_variant LIRI-JP 1 22074747 22074747 single base substitution T C synonymous_variant G264G 792A>G LIRI-JP 1 22074747 22074747 single base substitution T C upstream_gene_variant LIRI-JP 1 22074845 22074845 single base substitution T A downstream_gene_variant LIRI-JP 1 22074845 22074845 single base substitution T A intron_variant LIRI-JP 1 22074845 22074845 single base substitution T A upstream_gene_variant LIRI-JP 1 22074846 22074846 single base substitution T C downstream_gene_variant LIRI-JP 1 22074846 22074846 single base substitution T C intron_variant LIRI-JP 1 22074846 22074846 single base substitution T C upstream_gene_variant LIRI-JP 1 22083473 22083473 single base substitution G T downstream_gene_variant LIRI-JP 1 22083473 22083473 single base substitution G T intron_variant LIRI-JP 1 22085924 22085924 single base substitution G T intron_variant LIRI-JP 1 22086938 22086938 single base substitution G A intron_variant LIRI-JP 1 22087009 22087009 single base substitution C A intron_variant LIRI-JP 1 22088062 22088062 single base substitution T C intron_variant LIRI-JP 1 22091889 22091889 single base substitution A G intron_variant LIRI-JP 1 22095600 22095600 single base substitution T C intron_variant LIRI-JP 1 22095620 22095620 single base substitution C G intron_variant LIRI-JP 1 22095765 22095765 single base substitution A G intron_variant LIRI-JP 1 22096180 22096180 single base substitution A T intron_variant LIRI-JP 1 22096633 22096633 single base substitution T C intron_variant LIRI-JP 1 22096852 22096852 single base substitution A C intron_variant LIRI-JP 1 22097408 22097408 single base substitution G A intron_variant LIRI-JP 1 22098369 22098369 single base substitution C T intron_variant LIRI-JP 1 22100656 22100656 single base substitution A C intron_variant LIRI-JP 1 22100847 22100847 single base substitution T C intron_variant LIRI-JP 1 22101156 22101156 single base substitution G A intron_variant LIRI-JP 1 22102548 22102548 single base substitution G A intron_variant LIRI-JP 1 22102601 22102601 single base substitution T C intron_variant LIRI-JP 1 22104399 22104399 single base substitution T A intron_variant LIRI-JP 1 22104967 22104967 single base substitution C T intron_variant LIRI-JP 1 22107141 22107141 single base substitution A G intron_variant LIRI-JP 1 22108205 22108205 single base substitution T C intron_variant LIRI-JP 1 22108943 22108945 deletion of <=200bp CAA - intron_variant LIRI-JP 1 22108943 22108945 deletion of <=200bp CAA - upstream_gene_variant LIRI-JP 1 22109651 22109651 single base substitution G T 5_prime_UTR_variant LIRI-JP 1 22109651 22109651 single base substitution G T upstream_gene_variant LIRI-JP 1 22109770 22109770 single base substitution G A 5_prime_UTR_variant LIRI-JP 1 22109770 22109770 single base substitution G A upstream_gene_variant LIRI-JP 1 22112189 22112189 single base substitution A G upstream_gene_variant LIRI-JP 1 22113466 22113466 single base substitution C T upstream_gene_variant LIRI-JP 1 22114925 22114925 single base substitution T C upstream_gene_variant LIRI-JP 1 22114930 22114930 single base substitution A T upstream_gene_variant LUSC-KR 1 22005665 22005665 single base substitution C T 3_prime_UTR_variant LUSC-KR 1 22005665 22005665 single base substitution C T downstream_gene_variant LUSC-KR 1 22010348 22010348 single base substitution T A downstream_gene_variant LUSC-KR 1 22010348 22010348 single base substitution T A intron_variant LUSC-KR 1 22010348 22010348 single base substitution T A upstream_gene_variant LUSC-KR 1 22010384 22010384 single base substitution C T downstream_gene_variant LUSC-KR 1 22010384 22010384 single base substitution C T intron_variant LUSC-KR 1 22010384 22010384 single base substitution C T upstream_gene_variant LUSC-KR 1 22013073 22013073 single base substitution T C exon_variant LUSC-KR 1 22013073 22013073 single base substitution T C intron_variant LUSC-KR 1 22013623 22013623 single base substitution C G exon_variant LUSC-KR 1 22013623 22013623 single base substitution C G intron_variant LUSC-KR 1 22022667 22022667 single base substitution C T intron_variant LUSC-KR 1 22024088 22024088 single base substitution A G intron_variant LUSC-KR 1 22033990 22033990 single base substitution G A intron_variant LUSC-KR 1 22033990 22033990 single base substitution G A upstream_gene_variant LUSC-KR 1 22037093 22037093 single base substitution C A downstream_gene_variant LUSC-KR 1 22037093 22037093 single base substitution C A intron_variant LUSC-KR 1 22037279 22037279 single base substitution T C downstream_gene_variant LUSC-KR 1 22037279 22037279 single base substitution T C intron_variant LUSC-KR 1 22040792 22040792 single base substitution G A downstream_gene_variant LUSC-KR 1 22040792 22040792 single base substitution G A intron_variant LUSC-KR 1 22062582 22062582 single base substitution T C intron_variant LUSC-KR 1 22062582 22062582 single base substitution T C upstream_gene_variant LUSC-KR 1 22064879 22064879 single base substitution A C intron_variant LUSC-KR 1 22070996 22070996 single base substitution C A intron_variant LUSC-KR 1 22071396 22071396 single base substitution A T intron_variant LUSC-KR 1 22073098 22073098 single base substitution T C intron_variant LUSC-KR 1 22077925 22077925 single base substitution C G downstream_gene_variant LUSC-KR 1 22077925 22077925 single base substitution C G intron_variant LUSC-KR 1 22077925 22077925 single base substitution C G upstream_gene_variant LUSC-KR 1 22088187 22088187 single base substitution C A intron_variant LUSC-KR 1 22090136 22090136 single base substitution G A intron_variant LUSC-KR 1 22090818 22090818 single base substitution G T intron_variant LUSC-KR 1 22092011 22092011 single base substitution G C intron_variant LUSC-KR 1 22092492 22092492 single base substitution G C intron_variant LUSC-KR 1 22092837 22092837 single base substitution C G intron_variant LUSC-KR 1 22095629 22095629 single base substitution T C intron_variant LUSC-KR 1 22106900 22106900 single base substitution G A intron_variant LUSC-KR 1 22107254 22107254 single base substitution G T intron_variant LUSC-KR 1 22110141 22110141 single base substitution G T upstream_gene_variant LUSC-KR 1 22110491 22110491 single base substitution G C upstream_gene_variant LUSC-KR 1 22110892 22110892 single base substitution G A upstream_gene_variant LUSC-KR 1 22111209 22111209 single base substitution C T upstream_gene_variant LUSC-KR 1 22111652 22111652 single base substitution G C upstream_gene_variant LUSC-US 1 22021658 22021658 single base substitution T C exon_variant LUSC-US 1 22021658 22021658 single base substitution T C intron_variant LUSC-US 1 22021658 22021658 single base substitution T C synonymous_variant Q928Q 2784A>G LUSC-US 1 22021658 22021658 single base substitution T C synonymous_variant Q940Q 2820A>G LUSC-US 1 22033294 22033294 single base substitution C A missense_variant Q215H 645G>T LUSC-US 1 22033294 22033294 single base substitution C A missense_variant Q677H 2031G>T LUSC-US 1 22033294 22033294 single base substitution C A missense_variant Q689H 2067G>T LUSC-US 1 22033294 22033294 single base substitution C A upstream_gene_variant LUSC-US 1 22063027 22063027 single base substitution T C exon_variant LUSC-US 1 22063027 22063027 single base substitution T C synonymous_variant P361P 1083A>G LUSC-US 1 22063027 22063027 single base substitution T C upstream_gene_variant LUSC-US 1 22079070 22079070 single base substitution C T downstream_gene_variant LUSC-US 1 22079070 22079070 single base substitution C T synonymous_variant V205V 615G>A LUSC-US 1 22079070 22079070 single base substitution C T upstream_gene_variant LUSC-US 1 22079485 22079485 single base substitution C A downstream_gene_variant LUSC-US 1 22079485 22079485 single base substitution C A missense_variant Q180H 540G>T LUSC-US 1 22079485 22079485 single base substitution C A upstream_gene_variant MALY-DE 1 22002216 22002216 single base substitution A T downstream_gene_variant MALY-DE 1 22010144 22010144 single base substitution C G downstream_gene_variant MALY-DE 1 22010144 22010144 single base substitution C G intron_variant MALY-DE 1 22010144 22010144 single base substitution C G upstream_gene_variant MALY-DE 1 22017078 22017078 single base substitution G A intron_variant MALY-DE 1 22022938 22022940 deletion of <=200bp AGA - intron_variant MALY-DE 1 22028671 22028671 single base substitution C T intron_variant MALY-DE 1 22063143 22063143 single base substitution A G intron_variant MALY-DE 1 22063143 22063143 single base substitution A G upstream_gene_variant MALY-DE 1 22078831 22078831 single base substitution C A downstream_gene_variant MALY-DE 1 22078831 22078831 single base substitution C A intron_variant MALY-DE 1 22078831 22078831 single base substitution C A upstream_gene_variant MALY-DE 1 22099436 22099447 deletion of <=200bp AAAGAAAGAAAA - intron_variant MALY-DE 1 22099567 22099567 single base substitution T C intron_variant MALY-DE 1 22099814 22099814 single base substitution A C intron_variant MALY-DE 1 22100093 22100093 single base substitution A G intron_variant MALY-DE 1 22108053 22108053 deletion of <=200bp C - intron_variant MALY-DE 1 22109860 22109860 single base substitution C G 5_prime_UTR_variant MALY-DE 1 22109860 22109860 single base substitution C G upstream_gene_variant MALY-DE 1 22113751 22113751 single base substitution C T upstream_gene_variant MELA-AU 1 21999839 21999840 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 22000733 22000733 single base substitution A T downstream_gene_variant MELA-AU 1 22000872 22000872 single base substitution T G downstream_gene_variant MELA-AU 1 22001202 22001202 insertion of <=200bp - A downstream_gene_variant MELA-AU 1 22001392 22001392 single base substitution G A downstream_gene_variant MELA-AU 1 22001779 22001779 single base substitution G A downstream_gene_variant MELA-AU 1 22001810 22001810 single base substitution G A downstream_gene_variant MELA-AU 1 22002835 22002835 single base substitution G A downstream_gene_variant MELA-AU 1 22003422 22003422 single base substitution G A downstream_gene_variant MELA-AU 1 22003588 22003588 single base substitution G A downstream_gene_variant MELA-AU 1 22004193 22004193 single base substitution A C downstream_gene_variant MELA-AU 1 22004422 22004422 single base substitution G A downstream_gene_variant MELA-AU 1 22004521 22004521 single base substitution G A downstream_gene_variant MELA-AU 1 22004674 22004674 single base substitution G A downstream_gene_variant MELA-AU 1 22004720 22004720 single base substitution G A downstream_gene_variant MELA-AU 1 22005904 22005904 single base substitution C T 3_prime_UTR_variant MELA-AU 1 22005904 22005904 single base substitution C T exon_variant MELA-AU 1 22006762 22006762 single base substitution G A intron_variant MELA-AU 1 22006982 22006982 single base substitution G A intron_variant MELA-AU 1 22007975 22007975 single base substitution G A downstream_gene_variant MELA-AU 1 22007975 22007975 single base substitution G A intron_variant MELA-AU 1 22007975 22007975 single base substitution G A upstream_gene_variant MELA-AU 1 22008503 22008503 single base substitution C T downstream_gene_variant MELA-AU 1 22008503 22008503 single base substitution C T intron_variant MELA-AU 1 22008503 22008503 single base substitution C T upstream_gene_variant MELA-AU 1 22008653 22008653 single base substitution G T downstream_gene_variant MELA-AU 1 22008653 22008653 single base substitution G T intron_variant MELA-AU 1 22008653 22008653 single base substitution G T upstream_gene_variant MELA-AU 1 22008827 22008827 single base substitution G A downstream_gene_variant MELA-AU 1 22008827 22008827 single base substitution G A intron_variant MELA-AU 1 22008827 22008827 single base substitution G A upstream_gene_variant MELA-AU 1 22011577 22011577 single base substitution G A downstream_gene_variant MELA-AU 1 22011577 22011577 single base substitution G A intron_variant MELA-AU 1 22011577 22011577 single base substitution G A upstream_gene_variant MELA-AU 1 22011998 22011998 single base substitution G A downstream_gene_variant MELA-AU 1 22011998 22011998 single base substitution G A intron_variant MELA-AU 1 22011998 22011998 single base substitution G A upstream_gene_variant MELA-AU 1 22012409 22012409 single base substitution G A exon_variant MELA-AU 1 22012409 22012409 single base substitution G A intron_variant MELA-AU 1 22012409 22012409 single base substitution G A upstream_gene_variant MELA-AU 1 22012700 22012700 single base substitution G A exon_variant MELA-AU 1 22012700 22012700 single base substitution G A intron_variant MELA-AU 1 22012700 22012700 single base substitution G A upstream_gene_variant MELA-AU 1 22012884 22012884 single base substitution G A exon_variant MELA-AU 1 22012884 22012884 single base substitution G A intron_variant MELA-AU 1 22013406 22013406 single base substitution G A exon_variant MELA-AU 1 22013406 22013406 single base substitution G A intron_variant MELA-AU 1 22014011 22014011 single base substitution G A intron_variant MELA-AU 1 22014434 22014434 single base substitution G A intron_variant MELA-AU 1 22014521 22014521 single base substitution C T intron_variant MELA-AU 1 22014673 22014673 single base substitution G A intron_variant MELA-AU 1 22015084 22015084 single base substitution C T intron_variant MELA-AU 1 22015440 22015440 single base substitution A G intron_variant MELA-AU 1 22015561 22015561 single base substitution G A intron_variant MELA-AU 1 22017023 22017023 single base substitution T G intron_variant MELA-AU 1 22017242 22017242 single base substitution G A intron_variant MELA-AU 1 22017409 22017409 single base substitution G A intron_variant MELA-AU 1 22017863 22017863 single base substitution A G intron_variant MELA-AU 1 22018468 22018468 single base substitution G A intron_variant MELA-AU 1 22019339 22019339 single base substitution G A intron_variant MELA-AU 1 22019464 22019464 single base substitution G A intron_variant MELA-AU 1 22019673 22019673 single base substitution G A intron_variant MELA-AU 1 22020319 22020320 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 22020336 22020337 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 22020483 22020483 single base substitution G A intron_variant MELA-AU 1 22020700 22020700 single base substitution G A intron_variant MELA-AU 1 22020788 22020788 single base substitution G A intron_variant MELA-AU 1 22024081 22024081 single base substitution G A intron_variant MELA-AU 1 22025274 22025274 single base substitution G A intron_variant MELA-AU 1 22026028 22026028 single base substitution A G intron_variant MELA-AU 1 22026427 22026427 single base substitution G A intron_variant MELA-AU 1 22026634 22026634 single base substitution C G intron_variant MELA-AU 1 22026642 22026642 single base substitution A T intron_variant MELA-AU 1 22026809 22026809 single base substitution G A intron_variant MELA-AU 1 22027343 22027343 single base substitution G A intron_variant MELA-AU 1 22028120 22028120 single base substitution G A intron_variant MELA-AU 1 22028513 22028513 single base substitution G A intron_variant MELA-AU 1 22028915 22028916 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 22030451 22030451 single base substitution A G intron_variant MELA-AU 1 22031410 22031410 single base substitution G A intron_variant MELA-AU 1 22031410 22031410 single base substitution G A upstream_gene_variant MELA-AU 1 22032262 22032262 insertion of <=200bp - AGGC frameshift_variant L319LP? MELA-AU 1 22032262 22032262 insertion of <=200bp - AGGC frameshift_variant L781LP? MELA-AU 1 22032262 22032262 insertion of <=200bp - AGGC frameshift_variant L793LP? MELA-AU 1 22032262 22032262 insertion of <=200bp - AGGC upstream_gene_variant MELA-AU 1 22033766 22033767 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 1 22033766 22033767 multiple base substitution (>=2bp and <=200bp) GG AC upstream_gene_variant MELA-AU 1 22034662 22034676 deletion of <=200bp ACAAAACAAAACAAC - intron_variant MELA-AU 1 22034662 22034676 deletion of <=200bp ACAAAACAAAACAAC - upstream_gene_variant MELA-AU 1 22035109 22035109 single base substitution G A intron_variant MELA-AU 1 22035109 22035109 single base substitution G A upstream_gene_variant MELA-AU 1 22035271 22035271 single base substitution G A intron_variant MELA-AU 1 22035271 22035271 single base substitution G A upstream_gene_variant MELA-AU 1 22035354 22035354 single base substitution G A intron_variant MELA-AU 1 22035354 22035354 single base substitution G A upstream_gene_variant MELA-AU 1 22036524 22036524 single base substitution A G intron_variant MELA-AU 1 22037771 22037772 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 22037771 22037772 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 22037817 22037817 single base substitution G A downstream_gene_variant MELA-AU 1 22037817 22037817 single base substitution G A intron_variant MELA-AU 1 22037833 22037833 single base substitution T C downstream_gene_variant MELA-AU 1 22037833 22037833 single base substitution T C intron_variant MELA-AU 1 22038303 22038303 single base substitution G A downstream_gene_variant MELA-AU 1 22038303 22038303 single base substitution G A intron_variant MELA-AU 1 22038977 22038977 single base substitution C T downstream_gene_variant MELA-AU 1 22038977 22038977 single base substitution C T intron_variant MELA-AU 1 22039872 22039872 single base substitution G A downstream_gene_variant MELA-AU 1 22039872 22039872 single base substitution G A intron_variant MELA-AU 1 22040058 22040058 single base substitution G A downstream_gene_variant MELA-AU 1 22040058 22040058 single base substitution G A intron_variant MELA-AU 1 22040210 22040210 single base substitution G A downstream_gene_variant MELA-AU 1 22040210 22040210 single base substitution G A intron_variant MELA-AU 1 22040372 22040372 single base substitution G A downstream_gene_variant MELA-AU 1 22040372 22040372 single base substitution G A intron_variant MELA-AU 1 22040451 22040451 single base substitution G A downstream_gene_variant MELA-AU 1 22040451 22040451 single base substitution G A intron_variant MELA-AU 1 22040452 22040452 single base substitution G A downstream_gene_variant MELA-AU 1 22040452 22040452 single base substitution G A intron_variant MELA-AU 1 22040842 22040842 single base substitution C A downstream_gene_variant MELA-AU 1 22040842 22040842 single base substitution C A intron_variant MELA-AU 1 22041064 22041064 single base substitution C T downstream_gene_variant MELA-AU 1 22041064 22041064 single base substitution C T intron_variant MELA-AU 1 22041068 22041069 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 22041068 22041069 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 22041082 22041082 single base substitution G A downstream_gene_variant MELA-AU 1 22041082 22041082 single base substitution G A intron_variant MELA-AU 1 22041184 22041184 single base substitution G A downstream_gene_variant MELA-AU 1 22041184 22041184 single base substitution G A intron_variant MELA-AU 1 22041273 22041273 single base substitution G A downstream_gene_variant MELA-AU 1 22041273 22041273 single base substitution G A intron_variant MELA-AU 1 22043042 22043042 single base substitution G A downstream_gene_variant MELA-AU 1 22043042 22043042 single base substitution G A intron_variant MELA-AU 1 22044187 22044187 single base substitution A G downstream_gene_variant MELA-AU 1 22044187 22044187 single base substitution A G intron_variant MELA-AU 1 22044456 22044456 single base substitution G A downstream_gene_variant MELA-AU 1 22044456 22044456 single base substitution G A intron_variant MELA-AU 1 22045070 22045070 single base substitution G A downstream_gene_variant MELA-AU 1 22045070 22045070 single base substitution G A intron_variant MELA-AU 1 22045146 22045146 single base substitution G A downstream_gene_variant MELA-AU 1 22045146 22045146 single base substitution G A intron_variant MELA-AU 1 22045753 22045754 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 22045753 22045754 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 22046072 22046072 single base substitution T C downstream_gene_variant MELA-AU 1 22046072 22046072 single base substitution T C intron_variant MELA-AU 1 22046856 22046856 single base substitution G A downstream_gene_variant MELA-AU 1 22046856 22046856 single base substitution G A intron_variant MELA-AU 1 22047439 22047439 single base substitution G A downstream_gene_variant MELA-AU 1 22047439 22047439 single base substitution G A intron_variant MELA-AU 1 22047440 22047440 single base substitution G A downstream_gene_variant MELA-AU 1 22047440 22047440 single base substitution G A intron_variant MELA-AU 1 22048576 22048577 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 22048576 22048577 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 22048576 22048577 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 22049486 22049486 single base substitution G A downstream_gene_variant MELA-AU 1 22049486 22049486 single base substitution G A intron_variant MELA-AU 1 22049486 22049486 single base substitution G A upstream_gene_variant MELA-AU 1 22049805 22049805 single base substitution G A downstream_gene_variant MELA-AU 1 22049805 22049805 single base substitution G A intron_variant MELA-AU 1 22049805 22049805 single base substitution G A upstream_gene_variant MELA-AU 1 22052170 22052170 single base substitution C T downstream_gene_variant MELA-AU 1 22052170 22052170 single base substitution C T intron_variant MELA-AU 1 22052170 22052170 single base substitution C T upstream_gene_variant MELA-AU 1 22052241 22052241 single base substitution C T downstream_gene_variant MELA-AU 1 22052241 22052241 single base substitution C T intron_variant MELA-AU 1 22052241 22052241 single base substitution C T upstream_gene_variant MELA-AU 1 22052480 22052480 single base substitution G A downstream_gene_variant MELA-AU 1 22052480 22052480 single base substitution G A intron_variant MELA-AU 1 22052480 22052480 single base substitution G A upstream_gene_variant MELA-AU 1 22052683 22052683 single base substitution G A downstream_gene_variant MELA-AU 1 22052683 22052683 single base substitution G A intron_variant MELA-AU 1 22052683 22052683 single base substitution G A upstream_gene_variant MELA-AU 1 22053296 22053296 single base substitution G A downstream_gene_variant MELA-AU 1 22053296 22053296 single base substitution G A intron_variant MELA-AU 1 22053296 22053296 single base substitution G A upstream_gene_variant MELA-AU 1 22053388 22053388 single base substitution G A downstream_gene_variant MELA-AU 1 22053388 22053388 single base substitution G A intron_variant MELA-AU 1 22053388 22053388 single base substitution G A upstream_gene_variant MELA-AU 1 22054162 22054162 single base substitution A G downstream_gene_variant MELA-AU 1 22054162 22054162 single base substitution A G intron_variant MELA-AU 1 22054162 22054162 single base substitution A G upstream_gene_variant MELA-AU 1 22054761 22054761 single base substitution C T 3_prime_UTR_variant MELA-AU 1 22054761 22054761 single base substitution C T downstream_gene_variant MELA-AU 1 22054761 22054761 single base substitution C T intron_variant MELA-AU 1 22054761 22054761 single base substitution C T upstream_gene_variant MELA-AU 1 22055392 22055392 single base substitution G A intron_variant MELA-AU 1 22055392 22055392 single base substitution G A upstream_gene_variant MELA-AU 1 22055634 22055635 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 22055634 22055635 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 22056787 22056787 single base substitution T C intron_variant MELA-AU 1 22056787 22056787 single base substitution T C upstream_gene_variant MELA-AU 1 22058094 22058094 single base substitution C A intron_variant MELA-AU 1 22058413 22058413 single base substitution T C intron_variant MELA-AU 1 22058449 22058449 single base substitution A G intron_variant MELA-AU 1 22058484 22058484 single base substitution G A intron_variant MELA-AU 1 22058527 22058527 single base substitution G A intron_variant MELA-AU 1 22058569 22058569 single base substitution G A intron_variant MELA-AU 1 22058676 22058676 single base substitution G A intron_variant MELA-AU 1 22058930 22058930 single base substitution G A intron_variant MELA-AU 1 22059320 22059320 single base substitution G A 5_prime_UTR_variant MELA-AU 1 22059320 22059320 single base substitution G A intron_variant MELA-AU 1 22059320 22059320 single base substitution G A upstream_gene_variant MELA-AU 1 22059695 22059695 single base substitution G A intron_variant MELA-AU 1 22059695 22059695 single base substitution G A upstream_gene_variant MELA-AU 1 22059728 22059728 single base substitution G A intron_variant MELA-AU 1 22059728 22059728 single base substitution G A upstream_gene_variant MELA-AU 1 22059854 22059854 single base substitution G A intron_variant MELA-AU 1 22059854 22059854 single base substitution G A upstream_gene_variant MELA-AU 1 22061514 22061514 single base substitution G A intron_variant MELA-AU 1 22061514 22061514 single base substitution G A upstream_gene_variant MELA-AU 1 22062273 22062273 single base substitution T C intron_variant MELA-AU 1 22062273 22062273 single base substitution T C upstream_gene_variant MELA-AU 1 22062357 22062357 single base substitution G A intron_variant MELA-AU 1 22062357 22062357 single base substitution G A upstream_gene_variant MELA-AU 1 22062575 22062575 single base substitution A C intron_variant MELA-AU 1 22062575 22062575 single base substitution A C upstream_gene_variant MELA-AU 1 22063476 22063476 single base substitution T C intron_variant MELA-AU 1 22063476 22063476 single base substitution T C upstream_gene_variant MELA-AU 1 22064086 22064086 single base substitution G A intron_variant MELA-AU 1 22064086 22064086 single base substitution G A upstream_gene_variant MELA-AU 1 22064509 22064509 single base substitution A G intron_variant MELA-AU 1 22065303 22065303 single base substitution G C intron_variant MELA-AU 1 22065342 22065342 single base substitution G A intron_variant MELA-AU 1 22066062 22066062 single base substitution T C intron_variant MELA-AU 1 22068058 22068058 single base substitution G A intron_variant MELA-AU 1 22070695 22070695 single base substitution G A intron_variant MELA-AU 1 22071484 22071484 single base substitution G A intron_variant MELA-AU 1 22071485 22071485 single base substitution G A intron_variant MELA-AU 1 22071526 22071526 single base substitution G A intron_variant MELA-AU 1 22073211 22073211 single base substitution C A intron_variant MELA-AU 1 22074280 22074280 single base substitution G A intron_variant MELA-AU 1 22074628 22074628 single base substitution T C downstream_gene_variant MELA-AU 1 22074628 22074628 single base substitution T C intron_variant MELA-AU 1 22074628 22074628 single base substitution T C splice_region_variant MELA-AU 1 22074673 22074673 single base substitution G A downstream_gene_variant MELA-AU 1 22074673 22074673 single base substitution G A exon_variant MELA-AU 1 22074673 22074673 single base substitution G A missense_variant P289L 866C>T MELA-AU 1 22075042 22075042 single base substitution C T downstream_gene_variant MELA-AU 1 22075042 22075042 single base substitution C T intron_variant MELA-AU 1 22075042 22075042 single base substitution C T upstream_gene_variant MELA-AU 1 22075170 22075170 single base substitution G A downstream_gene_variant MELA-AU 1 22075170 22075170 single base substitution G A intron_variant MELA-AU 1 22075170 22075170 single base substitution G A upstream_gene_variant MELA-AU 1 22075299 22075299 single base substitution G A downstream_gene_variant MELA-AU 1 22075299 22075299 single base substitution G A intron_variant MELA-AU 1 22075299 22075299 single base substitution G A upstream_gene_variant MELA-AU 1 22076219 22076219 single base substitution C T downstream_gene_variant MELA-AU 1 22076219 22076219 single base substitution C T intron_variant MELA-AU 1 22076219 22076219 single base substitution C T upstream_gene_variant MELA-AU 1 22076229 22076229 single base substitution G A downstream_gene_variant MELA-AU 1 22076229 22076229 single base substitution G A intron_variant MELA-AU 1 22076229 22076229 single base substitution G A upstream_gene_variant MELA-AU 1 22079075 22079075 single base substitution C T downstream_gene_variant MELA-AU 1 22079075 22079075 single base substitution C T missense_variant D204N 610G>A MELA-AU 1 22079075 22079075 single base substitution C T upstream_gene_variant MELA-AU 1 22079097 22079097 single base substitution A G downstream_gene_variant MELA-AU 1 22079097 22079097 single base substitution A G synonymous_variant T196T 588T>C MELA-AU 1 22079097 22079097 single base substitution A G upstream_gene_variant MELA-AU 1 22080296 22080296 single base substitution G A downstream_gene_variant MELA-AU 1 22080296 22080296 single base substitution G A intron_variant MELA-AU 1 22080369 22080369 single base substitution C T downstream_gene_variant MELA-AU 1 22080369 22080369 single base substitution C T intron_variant MELA-AU 1 22080371 22080371 single base substitution C T downstream_gene_variant MELA-AU 1 22080371 22080371 single base substitution C T intron_variant MELA-AU 1 22080824 22080824 single base substitution G A downstream_gene_variant MELA-AU 1 22080824 22080824 single base substitution G A intron_variant MELA-AU 1 22080918 22080918 single base substitution G A downstream_gene_variant MELA-AU 1 22080918 22080918 single base substitution G A intron_variant MELA-AU 1 22081311 22081311 single base substitution G A downstream_gene_variant MELA-AU 1 22081311 22081311 single base substitution G A intron_variant MELA-AU 1 22081340 22081340 single base substitution G A downstream_gene_variant MELA-AU 1 22081340 22081340 single base substitution G A intron_variant MELA-AU 1 22081726 22081726 single base substitution A G downstream_gene_variant MELA-AU 1 22081726 22081726 single base substitution A G intron_variant MELA-AU 1 22082553 22082553 single base substitution G A downstream_gene_variant MELA-AU 1 22082553 22082553 single base substitution G A intron_variant MELA-AU 1 22082585 22082585 single base substitution G A downstream_gene_variant MELA-AU 1 22082585 22082585 single base substitution G A intron_variant MELA-AU 1 22082646 22082646 single base substitution G A downstream_gene_variant MELA-AU 1 22082646 22082646 single base substitution G A intron_variant MELA-AU 1 22082783 22082783 single base substitution G A downstream_gene_variant MELA-AU 1 22082783 22082783 single base substitution G A intron_variant MELA-AU 1 22084898 22084898 single base substitution G A intron_variant MELA-AU 1 22084969 22084969 single base substitution C A intron_variant MELA-AU 1 22085297 22085297 single base substitution A T intron_variant MELA-AU 1 22085323 22085323 single base substitution G A intron_variant MELA-AU 1 22086049 22086049 single base substitution G A intron_variant MELA-AU 1 22087145 22087145 single base substitution G A intron_variant MELA-AU 1 22087468 22087468 single base substitution T A intron_variant MELA-AU 1 22087671 22087671 single base substitution A G intron_variant MELA-AU 1 22087954 22087954 single base substitution G A intron_variant MELA-AU 1 22088163 22088163 single base substitution C T intron_variant MELA-AU 1 22088171 22088171 single base substitution T A intron_variant MELA-AU 1 22089346 22089346 single base substitution G A intron_variant MELA-AU 1 22089677 22089677 single base substitution C T intron_variant MELA-AU 1 22090321 22090321 single base substitution G A intron_variant MELA-AU 1 22090357 22090357 single base substitution G A intron_variant MELA-AU 1 22090908 22090908 single base substitution G A intron_variant MELA-AU 1 22091523 22091523 single base substitution G A intron_variant MELA-AU 1 22091956 22091956 deletion of <=200bp A - intron_variant MELA-AU 1 22092123 22092123 single base substitution G A intron_variant MELA-AU 1 22092154 22092154 single base substitution C T intron_variant MELA-AU 1 22092527 22092527 single base substitution G A intron_variant MELA-AU 1 22093318 22093318 single base substitution G A intron_variant MELA-AU 1 22093540 22093540 single base substitution G A intron_variant MELA-AU 1 22094108 22094108 single base substitution G A intron_variant MELA-AU 1 22094764 22094764 single base substitution G A intron_variant MELA-AU 1 22094867 22094868 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 1 22095343 22095343 single base substitution G T intron_variant MELA-AU 1 22095999 22095999 single base substitution G A intron_variant MELA-AU 1 22096856 22096856 single base substitution G A intron_variant MELA-AU 1 22097040 22097040 single base substitution T C intron_variant MELA-AU 1 22097136 22097136 single base substitution G A intron_variant MELA-AU 1 22097777 22097777 single base substitution G A intron_variant MELA-AU 1 22097983 22097983 single base substitution T C intron_variant MELA-AU 1 22098762 22098762 single base substitution G A intron_variant MELA-AU 1 22099443 22099443 single base substitution G A intron_variant MELA-AU 1 22099472 22099472 single base substitution G A intron_variant MELA-AU 1 22099476 22099476 single base substitution G A intron_variant MELA-AU 1 22100655 22100655 single base substitution G A intron_variant MELA-AU 1 22102420 22102420 single base substitution G A intron_variant MELA-AU 1 22102525 22102525 single base substitution A C intron_variant MELA-AU 1 22103333 22103333 single base substitution G A intron_variant MELA-AU 1 22103704 22103704 single base substitution C T intron_variant MELA-AU 1 22103774 22103774 single base substitution C T intron_variant MELA-AU 1 22104064 22104064 single base substitution G A intron_variant MELA-AU 1 22104530 22104530 single base substitution G A intron_variant MELA-AU 1 22105016 22105016 single base substitution C A intron_variant MELA-AU 1 22105262 22105262 single base substitution G A intron_variant MELA-AU 1 22106488 22106488 single base substitution G A intron_variant MELA-AU 1 22106831 22106831 single base substitution A G intron_variant MELA-AU 1 22107183 22107183 single base substitution G A intron_variant MELA-AU 1 22107455 22107455 single base substitution G A intron_variant MELA-AU 1 22107636 22107636 single base substitution G A intron_variant MELA-AU 1 22107882 22107882 single base substitution A T intron_variant MELA-AU 1 22108267 22108267 single base substitution A T intron_variant MELA-AU 1 22108353 22108353 single base substitution T G intron_variant MELA-AU 1 22108353 22108353 single base substitution T G splice_region_variant MELA-AU 1 22109547 22109547 single base substitution G A 5_prime_UTR_variant MELA-AU 1 22109547 22109547 single base substitution G A upstream_gene_variant MELA-AU 1 22109640 22109640 single base substitution C G 5_prime_UTR_variant MELA-AU 1 22109640 22109640 single base substitution C G upstream_gene_variant MELA-AU 1 22110038 22110038 single base substitution G A 5_prime_UTR_variant MELA-AU 1 22110038 22110038 single base substitution G A upstream_gene_variant MELA-AU 1 22110118 22110118 single base substitution C T upstream_gene_variant MELA-AU 1 22110119 22110119 single base substitution C A upstream_gene_variant MELA-AU 1 22110594 22110594 single base substitution G A upstream_gene_variant MELA-AU 1 22110643 22110643 single base substitution G A upstream_gene_variant MELA-AU 1 22111877 22111877 single base substitution G A upstream_gene_variant MELA-AU 1 22111927 22111927 single base substitution G A upstream_gene_variant MELA-AU 1 22111961 22111961 single base substitution C T upstream_gene_variant MELA-AU 1 22112037 22112037 single base substitution T C upstream_gene_variant MELA-AU 1 22112402 22112402 single base substitution T C upstream_gene_variant MELA-AU 1 22112508 22112508 single base substitution G A upstream_gene_variant MELA-AU 1 22113655 22113655 single base substitution G A upstream_gene_variant MELA-AU 1 22114494 22114494 single base substitution G A upstream_gene_variant MELA-AU 1 22114621 22114621 single base substitution G A upstream_gene_variant NBL-US 1 22047628 22047630 deletion of <=200bp AGG - disruptive_inframe_deletion SL136L NBL-US 1 22047628 22047630 deletion of <=200bp AGG - disruptive_inframe_deletion SL597L NBL-US 1 22047628 22047630 deletion of <=200bp AGG - disruptive_inframe_deletion SL598L NBL-US 1 22047628 22047630 deletion of <=200bp AGG - downstream_gene_variant NBL-US 1 22047628 22047630 deletion of <=200bp AGG - exon_variant ORCA-IN 1 22004636 22004636 single base substitution C T downstream_gene_variant ORCA-IN 1 22028017 22028017 single base substitution C A exon_variant ORCA-IN 1 22028017 22028017 single base substitution C A stop_gained G439* 1315G>T ORCA-IN 1 22028017 22028017 single base substitution C A stop_gained G901* 2701G>T ORCA-IN 1 22028017 22028017 single base substitution C A stop_gained G913* 2737G>T ORCA-IN 1 22049447 22049447 single base substitution G C downstream_gene_variant ORCA-IN 1 22049447 22049447 single base substitution G C intron_variant ORCA-IN 1 22049447 22049447 single base substitution G C upstream_gene_variant ORCA-IN 1 22050705 22050705 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant ORCA-IN 1 22050705 22050705 single base substitution G C downstream_gene_variant ORCA-IN 1 22050705 22050705 single base substitution G C intron_variant ORCA-IN 1 22050705 22050705 single base substitution G C upstream_gene_variant ORCA-IN 1 22087078 22087078 single base substitution G C intron_variant OV-AU 1 22003575 22003575 single base substitution G A downstream_gene_variant OV-AU 1 22024579 22024579 single base substitution C G intron_variant OV-AU 1 22033175 22033175 single base substitution C T intron_variant OV-AU 1 22033175 22033175 single base substitution C T upstream_gene_variant OV-AU 1 22048824 22048824 single base substitution G C downstream_gene_variant OV-AU 1 22048824 22048824 single base substitution G C intron_variant OV-AU 1 22048824 22048824 single base substitution G C upstream_gene_variant OV-AU 1 22058979 22058979 single base substitution A T intron_variant OV-AU 1 22060319 22060319 single base substitution C T intron_variant OV-AU 1 22060319 22060319 single base substitution C T upstream_gene_variant OV-AU 1 22070087 22070087 single base substitution T C intron_variant OV-AU 1 22077842 22077842 single base substitution T C downstream_gene_variant OV-AU 1 22077842 22077842 single base substitution T C intron_variant OV-AU 1 22077842 22077842 single base substitution T C upstream_gene_variant OV-AU 1 22080276 22080276 single base substitution T C downstream_gene_variant OV-AU 1 22080276 22080276 single base substitution T C intron_variant OV-AU 1 22082471 22082471 single base substitution C G downstream_gene_variant OV-AU 1 22082471 22082471 single base substitution C G intron_variant OV-AU 1 22083247 22083247 single base substitution C A downstream_gene_variant OV-AU 1 22083247 22083247 single base substitution C A intron_variant OV-AU 1 22087612 22087612 single base substitution A G intron_variant OV-AU 1 22089087 22089087 single base substitution G C intron_variant OV-AU 1 22097421 22097421 single base substitution G A intron_variant OV-AU 1 22109995 22109995 single base substitution G T 5_prime_UTR_variant OV-AU 1 22109995 22109995 single base substitution G T upstream_gene_variant OV-AU 1 22112015 22112015 single base substitution C A upstream_gene_variant OV-US 1 22021622 22021622 single base substitution T A exon_variant OV-US 1 22021622 22021622 single base substitution T A intron_variant OV-US 1 22021622 22021622 single base substitution T A missense_variant K940N 2820A>T OV-US 1 22021622 22021622 single base substitution T A missense_variant K952N 2856A>T PACA-AU 1 22000612 22000612 single base substitution C T downstream_gene_variant PACA-AU 1 22001394 22001394 single base substitution A T downstream_gene_variant PACA-AU 1 22004558 22004558 single base substitution C T downstream_gene_variant PACA-AU 1 22008775 22008775 single base substitution T G downstream_gene_variant PACA-AU 1 22008775 22008775 single base substitution T G intron_variant PACA-AU 1 22008775 22008775 single base substitution T G upstream_gene_variant PACA-AU 1 22017023 22017023 single base substitution T G intron_variant PACA-AU 1 22017042 22017042 single base substitution G T intron_variant PACA-AU 1 22021758 22021758 single base substitution C T intron_variant PACA-AU 1 22024386 22024386 single base substitution A C intron_variant PACA-AU 1 22060220 22060220 single base substitution A T intron_variant PACA-AU 1 22060220 22060220 single base substitution A T upstream_gene_variant PACA-AU 1 22069317 22069317 single base substitution T G intron_variant PACA-AU 1 22070280 22070280 single base substitution C T intron_variant PACA-AU 1 22070703 22070703 single base substitution G A intron_variant PACA-AU 1 22071208 22071208 single base substitution T A intron_variant PACA-AU 1 22076197 22076197 single base substitution G T downstream_gene_variant PACA-AU 1 22076197 22076197 single base substitution G T intron_variant PACA-AU 1 22076197 22076197 single base substitution G T upstream_gene_variant PACA-AU 1 22076198 22076198 single base substitution C T downstream_gene_variant PACA-AU 1 22076198 22076198 single base substitution C T intron_variant PACA-AU 1 22076198 22076198 single base substitution C T upstream_gene_variant PACA-AU 1 22084139 22084139 deletion of <=200bp A - exon_variant PACA-AU 1 22084139 22084139 deletion of <=200bp A - intron_variant PACA-AU 1 22091653 22091653 single base substitution T A intron_variant PACA-AU 1 22097435 22097435 single base substitution G A intron_variant PACA-AU 1 22099763 22099763 single base substitution A G intron_variant PACA-AU 1 22101524 22101524 single base substitution A G intron_variant PACA-AU 1 22103109 22103109 single base substitution A G intron_variant PACA-AU 1 22108955 22108955 single base substitution C G intron_variant PACA-AU 1 22108955 22108955 single base substitution C G upstream_gene_variant PACA-AU 1 22109208 22109208 single base substitution G C intron_variant PACA-AU 1 22109208 22109208 single base substitution G C upstream_gene_variant PACA-AU 1 22109383 22109383 single base substitution A C exon_variant PACA-AU 1 22109383 22109383 single base substitution A C missense_variant V23G 68T>G PACA-AU 1 22109383 22109383 single base substitution A C splice_region_variant PACA-AU 1 22109383 22109383 single base substitution A C upstream_gene_variant PACA-AU 1 22109807 22109807 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 1 22109807 22109807 single base substitution C T upstream_gene_variant PACA-AU 1 22113750 22113750 insertion of <=200bp - AGG upstream_gene_variant PACA-CA 1 22011706 22011706 single base substitution C T downstream_gene_variant PACA-CA 1 22011706 22011706 single base substitution C T intron_variant PACA-CA 1 22011706 22011706 single base substitution C T upstream_gene_variant PACA-CA 1 22015549 22015549 single base substitution A T intron_variant PACA-CA 1 22015577 22015577 single base substitution A G intron_variant PACA-CA 1 22020158 22020158 single base substitution G C intron_variant PACA-CA 1 22020848 22020848 single base substitution G A intron_variant PACA-CA 1 22022618 22022618 single base substitution A G intron_variant PACA-CA 1 22030962 22030962 single base substitution A G exon_variant PACA-CA 1 22030962 22030962 single base substitution A G intron_variant PACA-CA 1 22040932 22040932 deletion of <=200bp T - downstream_gene_variant PACA-CA 1 22040932 22040932 deletion of <=200bp T - intron_variant PACA-CA 1 22041888 22041888 single base substitution G A exon_variant PACA-CA 1 22041888 22041888 single base substitution G A missense_variant P191S 571C>T PACA-CA 1 22041888 22041888 single base substitution G A missense_variant P652S 1954C>T PACA-CA 1 22041888 22041888 single base substitution G A missense_variant P653S 1957C>T PACA-CA 1 22043902 22043902 single base substitution A T downstream_gene_variant PACA-CA 1 22043902 22043902 single base substitution A T intron_variant PACA-CA 1 22050362 22050373 deletion of <=200bp TTTTAAACAGAG - downstream_gene_variant PACA-CA 1 22050362 22050373 deletion of <=200bp TTTTAAACAGAG - intron_variant PACA-CA 1 22050362 22050373 deletion of <=200bp TTTTAAACAGAG - upstream_gene_variant PACA-CA 1 22050556 22050556 single base substitution G C downstream_gene_variant PACA-CA 1 22050556 22050556 single base substitution G C exon_variant PACA-CA 1 22050556 22050556 single base substitution G C missense_variant Q117E 349C>G PACA-CA 1 22050556 22050556 single base substitution G C missense_variant Q34E 100C>G PACA-CA 1 22050556 22050556 single base substitution G C missense_variant Q494E 1480C>G PACA-CA 1 22050556 22050556 single base substitution G C missense_variant Q495E 1483C>G PACA-CA 1 22050556 22050556 single base substitution G C missense_variant Q81E 241C>G PACA-CA 1 22050556 22050556 single base substitution G C upstream_gene_variant PACA-CA 1 22051752 22051752 single base substitution G A downstream_gene_variant PACA-CA 1 22051752 22051752 single base substitution G A intron_variant PACA-CA 1 22051752 22051752 single base substitution G A upstream_gene_variant PACA-CA 1 22053673 22053673 single base substitution G C downstream_gene_variant PACA-CA 1 22053673 22053673 single base substitution G C intron_variant PACA-CA 1 22053673 22053673 single base substitution G C upstream_gene_variant PACA-CA 1 22057549 22057549 single base substitution G C intron_variant PACA-CA 1 22057549 22057549 single base substitution G C upstream_gene_variant PACA-CA 1 22058440 22058440 single base substitution G T intron_variant PACA-CA 1 22060016 22060016 single base substitution T C intron_variant PACA-CA 1 22060016 22060016 single base substitution T C upstream_gene_variant PACA-CA 1 22064476 22064476 single base substitution A G intron_variant PACA-CA 1 22068895 22068895 single base substitution A G intron_variant PACA-CA 1 22069969 22069969 single base substitution C T intron_variant PACA-CA 1 22071899 22071899 single base substitution A C intron_variant PACA-CA 1 22074270 22074270 single base substitution T A intron_variant PACA-CA 1 22079013 22079013 single base substitution G A downstream_gene_variant PACA-CA 1 22079013 22079013 single base substitution G A splice_region_variant PACA-CA 1 22079013 22079013 single base substitution G A upstream_gene_variant PACA-CA 1 22081804 22081814 deletion of <=200bp AGCACTCTGGG - downstream_gene_variant PACA-CA 1 22081804 22081814 deletion of <=200bp AGCACTCTGGG - intron_variant PACA-CA 1 22085174 22085174 single base substitution C T intron_variant PACA-CA 1 22085861 22085861 single base substitution A G intron_variant PACA-CA 1 22087601 22087601 single base substitution G A intron_variant PACA-CA 1 22089893 22089893 deletion of <=200bp A - intron_variant PACA-CA 1 22090004 22090004 single base substitution T C intron_variant PACA-CA 1 22091909 22091909 single base substitution G T intron_variant PACA-CA 1 22098753 22098753 single base substitution G A intron_variant PACA-CA 1 22099380 22099380 single base substitution A C intron_variant PACA-CA 1 22099654 22099654 single base substitution A C intron_variant PACA-CA 1 22103335 22103335 single base substitution G A intron_variant PACA-CA 1 22108129 22108132 deletion of <=200bp AGGT - intron_variant PACA-CA 1 22108139 22108139 single base substitution A T intron_variant PACA-CA 1 22108147 22108147 single base substitution A C intron_variant PACA-CA 1 22110591 22110591 single base substitution C G upstream_gene_variant PACA-CA 1 22111200 22111200 single base substitution G A upstream_gene_variant PACA-CA 1 22111335 22111335 single base substitution A T upstream_gene_variant PACA-CA 1 22111489 22111489 single base substitution A C upstream_gene_variant PACA-CA 1 22114782 22114782 single base substitution A G upstream_gene_variant PAEN-AU 1 22009983 22009983 single base substitution T C downstream_gene_variant PAEN-AU 1 22009983 22009983 single base substitution T C intron_variant PAEN-AU 1 22009983 22009983 single base substitution T C upstream_gene_variant PAEN-AU 1 22061421 22061421 single base substitution T C intron_variant PAEN-AU 1 22061421 22061421 single base substitution T C upstream_gene_variant PBCA-DE 1 22003947 22003947 single base substitution C T downstream_gene_variant PBCA-DE 1 22017785 22017785 single base substitution C T intron_variant PBCA-DE 1 22019253 22019253 single base substitution G A intron_variant PBCA-DE 1 22040424 22040424 single base substitution C T downstream_gene_variant PBCA-DE 1 22040424 22040424 single base substitution C T intron_variant PBCA-DE 1 22041566 22041566 single base substitution T A downstream_gene_variant PBCA-DE 1 22041566 22041566 single base substitution T A intron_variant PBCA-DE 1 22053494 22053494 single base substitution T A downstream_gene_variant PBCA-DE 1 22053494 22053494 single base substitution T A intron_variant PBCA-DE 1 22053494 22053494 single base substitution T A upstream_gene_variant PBCA-DE 1 22083559 22083559 single base substitution C A downstream_gene_variant PBCA-DE 1 22083559 22083559 single base substitution C A intron_variant PBCA-DE 1 22087024 22087027 deletion of <=200bp TGGT - intron_variant PRAD-CA 1 22015489 22015489 single base substitution G C intron_variant PRAD-CA 1 22032430 22032430 single base substitution A C intron_variant PRAD-CA 1 22032430 22032430 single base substitution A C upstream_gene_variant PRAD-CA 1 22035817 22035817 single base substitution T C intron_variant PRAD-CA 1 22035817 22035817 single base substitution T C upstream_gene_variant PRAD-CA 1 22053938 22053938 single base substitution C T downstream_gene_variant PRAD-CA 1 22053938 22053938 single base substitution C T intron_variant PRAD-CA 1 22053938 22053938 single base substitution C T upstream_gene_variant PRAD-CA 1 22075114 22075114 single base substitution A T downstream_gene_variant PRAD-CA 1 22075114 22075114 single base substitution A T intron_variant PRAD-CA 1 22075114 22075114 single base substitution A T upstream_gene_variant PRAD-CA 1 22093408 22093408 single base substitution A C intron_variant PRAD-CA 1 22100908 22100908 single base substitution G A intron_variant PRAD-CA 1 22104623 22104623 single base substitution G A intron_variant PRAD-UK 1 22031211 22031211 single base substitution C T intron_variant PRAD-UK 1 22031211 22031211 single base substitution C T upstream_gene_variant PRAD-UK 1 22042250 22042250 single base substitution T C intron_variant PRAD-UK 1 22045668 22045680 multiple base substitution (>=2bp and <=200bp) ATCACTTGAACTG AAGT downstream_gene_variant PRAD-UK 1 22045668 22045680 multiple base substitution (>=2bp and <=200bp) ATCACTTGAACTG AAGT intron_variant PRAD-UK 1 22049413 22049413 single base substitution T C downstream_gene_variant PRAD-UK 1 22049413 22049413 single base substitution T C intron_variant PRAD-UK 1 22049413 22049413 single base substitution T C upstream_gene_variant PRAD-UK 1 22054688 22054688 single base substitution T G 3_prime_UTR_variant PRAD-UK 1 22054688 22054688 single base substitution T G downstream_gene_variant PRAD-UK 1 22054688 22054688 single base substitution T G intron_variant PRAD-UK 1 22054688 22054688 single base substitution T G upstream_gene_variant PRAD-UK 1 22056252 22056252 single base substitution C T 3_prime_UTR_variant PRAD-UK 1 22056252 22056252 single base substitution C T missense_variant M37I 111G>A PRAD-UK 1 22056252 22056252 single base substitution C T missense_variant M414I 1242G>A PRAD-UK 1 22056252 22056252 single base substitution C T missense_variant M415I 1245G>A PRAD-UK 1 22056252 22056252 single base substitution C T start_lost M1I 3G>A PRAD-UK 1 22056252 22056252 single base substitution C T upstream_gene_variant PRAD-UK 1 22061067 22061067 single base substitution G A intron_variant PRAD-UK 1 22061067 22061067 single base substitution G A upstream_gene_variant PRAD-UK 1 22079811 22079811 single base substitution A G downstream_gene_variant PRAD-UK 1 22079811 22079811 single base substitution A G intron_variant PRAD-UK 1 22083787 22083787 single base substitution A G downstream_gene_variant PRAD-UK 1 22083787 22083787 single base substitution A G intron_variant PRAD-UK 1 22089964 22089964 deletion of <=200bp G - intron_variant PRAD-UK 1 22098645 22098645 single base substitution A G intron_variant PRAD-UK 1 22108981 22108981 single base substitution T C intron_variant PRAD-UK 1 22108981 22108981 single base substitution T C upstream_gene_variant PRAD-US 1 22056252 22056252 single base substitution C A 3_prime_UTR_variant PRAD-US 1 22056252 22056252 single base substitution C A missense_variant M37I 111G>T PRAD-US 1 22056252 22056252 single base substitution C A missense_variant M414I 1242G>T PRAD-US 1 22056252 22056252 single base substitution C A missense_variant M415I 1245G>T PRAD-US 1 22056252 22056252 single base substitution C A start_lost M1I 3G>T PRAD-US 1 22056252 22056252 single base substitution C A upstream_gene_variant PRAD-US 1 22074643 22074643 single base substitution A C downstream_gene_variant PRAD-US 1 22074643 22074643 single base substitution A C exon_variant PRAD-US 1 22074643 22074643 single base substitution A C missense_variant F299C 896T>G READ-US 1 22032231 22032231 single base substitution T A missense_variant E329D 987A>T READ-US 1 22032231 22032231 single base substitution T A missense_variant E791D 2373A>T READ-US 1 22032231 22032231 single base substitution T A missense_variant E803D 2409A>T READ-US 1 22032231 22032231 single base substitution T A upstream_gene_variant READ-US 1 22079039 22079039 single base substitution C T downstream_gene_variant READ-US 1 22079039 22079039 single base substitution C T missense_variant E216K 646G>A READ-US 1 22079039 22079039 single base substitution C T upstream_gene_variant RECA-EU 1 22003221 22003221 single base substitution A T downstream_gene_variant RECA-EU 1 22016571 22016571 single base substitution C A exon_variant RECA-EU 1 22016571 22016571 single base substitution C A missense_variant A455S 1363G>T RECA-EU 1 22016571 22016571 single base substitution C A missense_variant A917S 2749G>T RECA-EU 1 22016571 22016571 single base substitution C A missense_variant A969S 2905G>T RECA-EU 1 22016571 22016571 single base substitution C A missense_variant A981S 2941G>T RECA-EU 1 22018922 22018922 single base substitution C G intron_variant RECA-EU 1 22025691 22025691 single base substitution T G intron_variant RECA-EU 1 22038944 22038944 single base substitution A G downstream_gene_variant RECA-EU 1 22038944 22038944 single base substitution A G intron_variant RECA-EU 1 22039838 22039838 single base substitution G A downstream_gene_variant RECA-EU 1 22039838 22039838 single base substitution G A intron_variant RECA-EU 1 22044440 22044440 single base substitution A T downstream_gene_variant RECA-EU 1 22044440 22044440 single base substitution A T intron_variant RECA-EU 1 22047885 22047885 single base substitution C T downstream_gene_variant RECA-EU 1 22047885 22047885 single base substitution C T intron_variant RECA-EU 1 22047885 22047885 single base substitution C T upstream_gene_variant RECA-EU 1 22056690 22056690 single base substitution C G intron_variant RECA-EU 1 22056690 22056690 single base substitution C G upstream_gene_variant RECA-EU 1 22058751 22058751 single base substitution G A intron_variant RECA-EU 1 22068201 22068201 single base substitution G A intron_variant RECA-EU 1 22071738 22071738 single base substitution T A intron_variant RECA-EU 1 22086714 22086714 single base substitution G T intron_variant RECA-EU 1 22088892 22088892 single base substitution C A intron_variant RECA-EU 1 22110090 22110090 single base substitution T G 5_prime_UTR_variant RECA-EU 1 22110090 22110090 single base substitution T G upstream_gene_variant SKCA-BR 1 22001639 22001639 single base substitution G A downstream_gene_variant SKCA-BR 1 22002542 22002542 single base substitution C T downstream_gene_variant SKCA-BR 1 22004779 22004779 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 1 22005782 22005782 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 22005782 22005782 single base substitution G A downstream_gene_variant SKCA-BR 1 22005782 22005782 single base substitution G A exon_variant SKCA-BR 1 22007737 22007737 single base substitution A G downstream_gene_variant SKCA-BR 1 22007737 22007737 single base substitution A G exon_variant SKCA-BR 1 22007737 22007737 single base substitution A G intron_variant SKCA-BR 1 22008707 22008707 single base substitution G A downstream_gene_variant SKCA-BR 1 22008707 22008707 single base substitution G A intron_variant SKCA-BR 1 22008707 22008707 single base substitution G A upstream_gene_variant SKCA-BR 1 22009517 22009517 single base substitution G A downstream_gene_variant SKCA-BR 1 22009517 22009517 single base substitution G A intron_variant SKCA-BR 1 22009517 22009517 single base substitution G A upstream_gene_variant SKCA-BR 1 22011301 22011301 single base substitution C T downstream_gene_variant SKCA-BR 1 22011301 22011301 single base substitution C T intron_variant SKCA-BR 1 22011301 22011301 single base substitution C T upstream_gene_variant SKCA-BR 1 22011822 22011822 single base substitution C T downstream_gene_variant SKCA-BR 1 22011822 22011822 single base substitution C T intron_variant SKCA-BR 1 22011822 22011822 single base substitution C T upstream_gene_variant SKCA-BR 1 22013009 22013009 single base substitution G A exon_variant SKCA-BR 1 22013009 22013009 single base substitution G A intron_variant SKCA-BR 1 22015687 22015687 single base substitution G C intron_variant SKCA-BR 1 22017810 22017810 single base substitution A C intron_variant SKCA-BR 1 22017901 22017901 single base substitution T G intron_variant SKCA-BR 1 22021085 22021101 deletion of <=200bp AAAAAAAAAAAAAAAAC - intron_variant SKCA-BR 1 22021091 22021101 deletion of <=200bp AAAAAAAAAAC - intron_variant SKCA-BR 1 22021101 22021101 single base substitution C A intron_variant SKCA-BR 1 22021991 22021991 single base substitution C T intron_variant SKCA-BR 1 22025709 22025709 single base substitution T G intron_variant SKCA-BR 1 22027352 22027352 single base substitution A G intron_variant SKCA-BR 1 22027557 22027558 deletion of <=200bp CA - intron_variant SKCA-BR 1 22029511 22029527 deletion of <=200bp AACACTTCCCAGGCTGC - intron_variant SKCA-BR 1 22035030 22035030 single base substitution G A intron_variant SKCA-BR 1 22035030 22035030 single base substitution G A upstream_gene_variant SKCA-BR 1 22035391 22035400 deletion of <=200bp AAAAAGAAAG - intron_variant SKCA-BR 1 22035391 22035400 deletion of <=200bp AAAAAGAAAG - upstream_gene_variant SKCA-BR 1 22035395 22035405 deletion of <=200bp AGAAAGAAAAG - intron_variant SKCA-BR 1 22035395 22035405 deletion of <=200bp AGAAAGAAAAG - upstream_gene_variant SKCA-BR 1 22043437 22043437 insertion of <=200bp - CG downstream_gene_variant SKCA-BR 1 22043437 22043437 insertion of <=200bp - CG intron_variant SKCA-BR 1 22043718 22043718 single base substitution G A downstream_gene_variant SKCA-BR 1 22043718 22043718 single base substitution G A intron_variant SKCA-BR 1 22045057 22045057 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 1 22045057 22045057 insertion of <=200bp - CT intron_variant SKCA-BR 1 22047275 22047275 single base substitution C T downstream_gene_variant SKCA-BR 1 22047275 22047275 single base substitution C T intron_variant SKCA-BR 1 22050833 22050833 single base substitution T G 5_prime_UTR_variant SKCA-BR 1 22050833 22050833 single base substitution T G downstream_gene_variant SKCA-BR 1 22050833 22050833 single base substitution T G intron_variant SKCA-BR 1 22050833 22050833 single base substitution T G upstream_gene_variant SKCA-BR 1 22052071 22052071 single base substitution C A downstream_gene_variant SKCA-BR 1 22052071 22052071 single base substitution C A intron_variant SKCA-BR 1 22052071 22052071 single base substitution C A upstream_gene_variant SKCA-BR 1 22053058 22053058 single base substitution G A downstream_gene_variant SKCA-BR 1 22053058 22053058 single base substitution G A exon_variant SKCA-BR 1 22053058 22053058 single base substitution G A intron_variant SKCA-BR 1 22053058 22053058 single base substitution G A upstream_gene_variant SKCA-BR 1 22053470 22053470 single base substitution A T downstream_gene_variant SKCA-BR 1 22053470 22053470 single base substitution A T intron_variant SKCA-BR 1 22053470 22053470 single base substitution A T upstream_gene_variant SKCA-BR 1 22055774 22055774 insertion of <=200bp - CA intron_variant SKCA-BR 1 22055774 22055774 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 1 22057317 22057317 single base substitution G A intron_variant SKCA-BR 1 22057317 22057317 single base substitution G A upstream_gene_variant SKCA-BR 1 22058980 22058980 single base substitution T C intron_variant SKCA-BR 1 22060787 22060787 single base substitution G A intron_variant SKCA-BR 1 22060787 22060787 single base substitution G A upstream_gene_variant SKCA-BR 1 22065775 22065775 single base substitution G C intron_variant SKCA-BR 1 22066435 22066435 single base substitution G T intron_variant SKCA-BR 1 22070467 22070467 single base substitution G A intron_variant SKCA-BR 1 22073985 22073985 single base substitution T G intron_variant SKCA-BR 1 22074001 22074001 single base substitution T A intron_variant SKCA-BR 1 22074021 22074021 single base substitution G A intron_variant SKCA-BR 1 22077212 22077213 deletion of <=200bp AC - downstream_gene_variant SKCA-BR 1 22077212 22077213 deletion of <=200bp AC - intron_variant SKCA-BR 1 22077212 22077213 deletion of <=200bp AC - upstream_gene_variant SKCA-BR 1 22077215 22077215 single base substitution C A downstream_gene_variant SKCA-BR 1 22077215 22077215 single base substitution C A intron_variant SKCA-BR 1 22077215 22077215 single base substitution C A upstream_gene_variant SKCA-BR 1 22077298 22077298 single base substitution C T downstream_gene_variant SKCA-BR 1 22077298 22077298 single base substitution C T intron_variant SKCA-BR 1 22077298 22077298 single base substitution C T upstream_gene_variant SKCA-BR 1 22083646 22083646 single base substitution C T downstream_gene_variant SKCA-BR 1 22083646 22083646 single base substitution C T intron_variant SKCA-BR 1 22086167 22086167 single base substitution T C intron_variant SKCA-BR 1 22088736 22088736 single base substitution G A intron_variant SKCA-BR 1 22089358 22089359 deletion of <=200bp CA - intron_variant SKCA-BR 1 22091204 22091205 deletion of <=200bp CA - intron_variant SKCA-BR 1 22098300 22098300 insertion of <=200bp - TA intron_variant SKCA-BR 1 22098399 22098399 single base substitution G A intron_variant SKCA-BR 1 22106775 22106775 single base substitution T C intron_variant SKCA-BR 1 22107121 22107121 single base substitution G A intron_variant SKCA-BR 1 22107451 22107451 single base substitution T G intron_variant SKCA-BR 1 22107578 22107578 single base substitution T A intron_variant SKCA-BR 1 22110119 22110119 single base substitution C T upstream_gene_variant SKCA-BR 1 22110203 22110203 single base substitution T G upstream_gene_variant SKCA-BR 1 22110806 22110806 single base substitution T G upstream_gene_variant SKCA-BR 1 22115074 22115074 single base substitution T G upstream_gene_variant SKCM-US 1 22033010 22033010 single base substitution G A missense_variant P259S 775C>T SKCM-US 1 22033010 22033010 single base substitution G A missense_variant P721S 2161C>T SKCM-US 1 22033010 22033010 single base substitution G A missense_variant P733S 2197C>T SKCM-US 1 22033010 22033010 single base substitution G A upstream_gene_variant SKCM-US 1 22055084 22055084 single base substitution G A downstream_gene_variant SKCM-US 1 22055084 22055084 single base substitution G A stop_gained Q476* 1426C>T SKCM-US 1 22055084 22055084 single base substitution G A stop_gained Q477* 1429C>T SKCM-US 1 22055084 22055084 single base substitution G A stop_gained Q63* 187C>T SKCM-US 1 22055084 22055084 single base substitution G A stop_gained Q99* 295C>T SKCM-US 1 22055084 22055084 single base substitution G A upstream_gene_variant SKCM-US 1 22073613 22073613 single base substitution G A exon_variant SKCM-US 1 22073613 22073613 single base substitution G A missense_variant T313I 938C>T SKCM-US 1 22078091 22078091 single base substitution C T downstream_gene_variant SKCM-US 1 22078091 22078091 single base substitution C T missense_variant R228K 683G>A SKCM-US 1 22078091 22078091 single base substitution C T upstream_gene_variant STAD-US 1 22007310 22007312 deletion of <=200bp CTT - disruptive_inframe_deletion EG1025G STAD-US 1 22007310 22007312 deletion of <=200bp CTT - disruptive_inframe_deletion EG1037G STAD-US 1 22007310 22007312 deletion of <=200bp CTT - disruptive_inframe_deletion EG511G STAD-US 1 22007310 22007312 deletion of <=200bp CTT - disruptive_inframe_deletion EG973G STAD-US 1 22007310 22007312 deletion of <=200bp CTT - exon_variant STAD-US 1 22016488 22016488 single base substitution A G exon_variant STAD-US 1 22016488 22016488 single base substitution A G synonymous_variant P1008P 3024T>C STAD-US 1 22016488 22016488 single base substitution A G synonymous_variant P482P 1446T>C STAD-US 1 22016488 22016488 single base substitution A G synonymous_variant P944P 2832T>C STAD-US 1 22016488 22016488 single base substitution A G synonymous_variant P996P 2988T>C STAD-US 1 22030030 22030030 single base substitution A G intron_variant STAD-US 1 22030030 22030030 single base substitution A G missense_variant V404A 1211T>C STAD-US 1 22030030 22030030 single base substitution A G missense_variant V866A 2597T>C STAD-US 1 22030030 22030030 single base substitution A G missense_variant V878A 2633T>C STAD-US 1 22030758 22030758 single base substitution G A exon_variant STAD-US 1 22030758 22030758 single base substitution G A missense_variant P376S 1126C>T STAD-US 1 22030758 22030758 single base substitution G A missense_variant P838S 2512C>T STAD-US 1 22030758 22030758 single base substitution G A missense_variant P850S 2548C>T STAD-US 1 22032676 22032676 single base substitution G A missense_variant T277M 830C>T STAD-US 1 22032676 22032676 single base substitution G A missense_variant T739M 2216C>T STAD-US 1 22032676 22032676 single base substitution G A missense_variant T751M 2252C>T STAD-US 1 22032676 22032676 single base substitution G A upstream_gene_variant STAD-US 1 22048163 22048163 single base substitution C T downstream_gene_variant STAD-US 1 22048163 22048163 single base substitution C T exon_variant STAD-US 1 22048163 22048163 single base substitution C T synonymous_variant L120L 360G>A STAD-US 1 22048163 22048163 single base substitution C T synonymous_variant L580L 1740G>A STAD-US 1 22048163 22048163 single base substitution C T synonymous_variant L581L 1743G>A STAD-US 1 22048163 22048163 single base substitution C T upstream_gene_variant STAD-US 1 22055105 22055105 single base substitution C T 3_prime_UTR_variant STAD-US 1 22055105 22055105 single base substitution C T missense_variant E469K 1405G>A STAD-US 1 22055105 22055105 single base substitution C T missense_variant E470K 1408G>A STAD-US 1 22055105 22055105 single base substitution C T missense_variant E56K 166G>A STAD-US 1 22055105 22055105 single base substitution C T missense_variant E92K 274G>A STAD-US 1 22055105 22055105 single base substitution C T upstream_gene_variant STAD-US 1 22056301 22056301 single base substitution C T 3_prime_UTR_variant STAD-US 1 22056301 22056301 single base substitution C T 5_prime_UTR_variant STAD-US 1 22056301 22056301 single base substitution C T missense_variant R21H 62G>A STAD-US 1 22056301 22056301 single base substitution C T missense_variant R398H 1193G>A STAD-US 1 22056301 22056301 single base substitution C T missense_variant R399H 1196G>A STAD-US 1 22056301 22056301 single base substitution C T upstream_gene_variant STAD-US 1 22073598 22073598 single base substitution G C exon_variant STAD-US 1 22073598 22073598 single base substitution G C stop_gained S318* 953C>G STAD-US 1 22073615 22073615 single base substitution A G exon_variant STAD-US 1 22073615 22073615 single base substitution A G synonymous_variant N312N 936T>C STAD-US 1 22079022 22079022 single base substitution A C downstream_gene_variant STAD-US 1 22079022 22079022 single base substitution A C splice_region_variant STAD-US 1 22079022 22079022 single base substitution A C upstream_gene_variant STAD-US 1 22079511 22079511 single base substitution A G downstream_gene_variant STAD-US 1 22079511 22079511 single base substitution A G synonymous_variant L172L 514T>C STAD-US 1 22079511 22079511 single base substitution A G synonymous_variant L45L 133T>C STAD-US 1 22079511 22079511 single base substitution A G upstream_gene_variant THCA-SA 1 22016576 22016576 single base substitution G A exon_variant THCA-SA 1 22016576 22016576 single base substitution G A missense_variant S453L 1358C>T THCA-SA 1 22016576 22016576 single base substitution G A missense_variant S915L 2744C>T THCA-SA 1 22016576 22016576 single base substitution G A missense_variant S967L 2900C>T THCA-SA 1 22016576 22016576 single base substitution G A missense_variant S979L 2936C>T THCA-SA 1 22054724 22054724 single base substitution C T 3_prime_UTR_variant THCA-SA 1 22054724 22054724 single base substitution C T downstream_gene_variant THCA-SA 1 22054724 22054724 single base substitution C T intron_variant THCA-SA 1 22054724 22054724 single base substitution C T upstream_gene_variant THCA-US 1 22033083 22033083 single base substitution C G splice_acceptor_variant THCA-US 1 22033083 22033083 single base substitution C G upstream_gene_variant THCA-US 1 22084264 22084264 single base substitution T C 5_prime_UTR_variant THCA-US 1 22084264 22084264 single base substitution T C exon_variant THCA-US 1 22084264 22084264 single base substitution T C synonymous_variant K49K 147A>G UCEC-US 1 22032230 22032230 single base substitution C A missense_variant D330Y 988G>T UCEC-US 1 22032230 22032230 single base substitution C A missense_variant D792Y 2374G>T UCEC-US 1 22032230 22032230 single base substitution C A missense_variant D804Y 2410G>T UCEC-US 1 22032230 22032230 single base substitution C A upstream_gene_variant UCEC-US 1 22041894 22041894 single base substitution G T exon_variant UCEC-US 1 22041894 22041894 single base substitution G T missense_variant L189M 565C>A UCEC-US 1 22041894 22041894 single base substitution G T missense_variant L650M 1948C>A UCEC-US 1 22041894 22041894 single base substitution G T missense_variant L651M 1951C>A UCEC-US 1 22041927 22041927 single base substitution C A exon_variant UCEC-US 1 22041927 22041927 single base substitution C A stop_gained E178* 532G>T UCEC-US 1 22041927 22041927 single base substitution C A stop_gained E639* 1915G>T UCEC-US 1 22041927 22041927 single base substitution C A stop_gained E640* 1918G>T UCEC-US 1 22048218 22048218 single base substitution C T downstream_gene_variant UCEC-US 1 22048218 22048218 single base substitution C T exon_variant UCEC-US 1 22048218 22048218 single base substitution C T missense_variant R102H 305G>A UCEC-US 1 22048218 22048218 single base substitution C T missense_variant R562H 1685G>A UCEC-US 1 22048218 22048218 single base substitution C T missense_variant R563H 1688G>A UCEC-US 1 22048218 22048218 single base substitution C T upstream_gene_variant UCEC-US 1 22055141 22055141 single base substitution G A 3_prime_UTR_variant UCEC-US 1 22055141 22055141 single base substitution G A missense_variant R44C 130C>T UCEC-US 1 22055141 22055141 single base substitution G A missense_variant R457C 1369C>T UCEC-US 1 22055141 22055141 single base substitution G A missense_variant R458C 1372C>T UCEC-US 1 22055141 22055141 single base substitution G A missense_variant R80C 238C>T UCEC-US 1 22055141 22055141 single base substitution G A upstream_gene_variant UCEC-US 1 22056252 22056252 single base substitution C T 3_prime_UTR_variant UCEC-US 1 22056252 22056252 single base substitution C T missense_variant M37I 111G>A UCEC-US 1 22056252 22056252 single base substitution C T missense_variant M414I 1242G>A UCEC-US 1 22056252 22056252 single base substitution C T missense_variant M415I 1245G>A UCEC-US 1 22056252 22056252 single base substitution C T start_lost M1I 3G>A UCEC-US 1 22056252 22056252 single base substitution C T upstream_gene_variant UCEC-US 1 22074646 22074646 single base substitution C T downstream_gene_variant UCEC-US 1 22074646 22074646 single base substitution C T exon_variant UCEC-US 1 22074646 22074646 single base substitution C T missense_variant R298H 893G>A UCEC-US 1 22074707 22074708 deletion of <=200bp TC - downstream_gene_variant UCEC-US 1 22074707 22074708 deletion of <=200bp TC - frameshift_variant QN277 UCEC-US 1 22074707 22074708 deletion of <=200bp TC - upstream_gene_variant UCEC-US 1 22078004 22078004 single base substitution A T downstream_gene_variant UCEC-US 1 22078004 22078004 single base substitution A T stop_gained L257* 770T>A UCEC-US 1 22078004 22078004 single base substitution A T upstream_gene_variant UCEC-US 1 22078013 22078013 single base substitution G A downstream_gene_variant UCEC-US 1 22078013 22078013 single base substitution G A missense_variant S254L 761C>T UCEC-US 1 22078013 22078013 single base substitution G A upstream_gene_variant UCEC-US 1 22078089 22078089 single base substitution C A downstream_gene_variant UCEC-US 1 22078089 22078089 single base substitution C A stop_gained E229* 685G>T UCEC-US 1 22078089 22078089 single base substitution C A upstream_gene_variant UCEC-US 1 22078094 22078094 single base substitution C T downstream_gene_variant UCEC-US 1 22078094 22078094 single base substitution C T missense_variant G227D 680G>A UCEC-US 1 22078094 22078094 single base substitution C T upstream_gene_variant UCEC-US 1 22079085 22079085 single base substitution T G downstream_gene_variant UCEC-US 1 22079085 22079085 single base substitution T G missense_variant Q200H 600A>C UCEC-US 1 22079085 22079085 single base substitution T G upstream_gene_variant UCEC-US 1 22079605 22079605 single base substitution C A downstream_gene_variant UCEC-US 1 22079605 22079605 single base substitution C A missense_variant E13D 39G>T UCEC-US 1 22079605 22079605 single base substitution C A missense_variant E140D 420G>T UCEC-US 1 22079605 22079605 single base substitution C A upstream_gene_variant UCEC-US 1 22084256 22084256 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 1 22084256 22084256 single base substitution G A exon_variant UCEC-US 1 22084256 22084256 single base substitution G A missense_variant P52L 155C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PD23554a COSM5780690 c.1377G>C p.K459N Substitution - Missense 1:21728643-21728643 - 2521259 COSM5889637 c.1171+8C>T p.? Unknown 1:21736438-21736438 - B10 COSM255000 c.1243A>G p.M415V Substitution - Missense 1:21729761-21729761 - KPOPBR-36-T COSM5963482 c.348A>T p.A116A Substitution - coding silent 1:21756610-21756610 - TCGA-AP-A059-01 COSM273450 c.1372C>T p.R458C Substitution - Missense 1:21728648-21728648 - P09-649 COSM248255 c.401A>G p.Q134R Substitution - Missense 1:21756557-21756557 - TCGA-G4-6320-01 COSM3689358 c.302A>G p.N101S Substitution - Missense 1:21756656-21756656 - PD4603a COSM165454 c.2727+5G>A p.? Unknown 1:21701493-21701493 - HCC4T COSM1601662 c.2516-10delT p.? Unknown 1:21703628-21703628 - 66 COSM5742692 c.1454C>T p.P485L Substitution - Missense 1:21724092-21724092 - TCGA-AC-A2QI-01 COSM1959150 c.2334C>T p.H778H Substitution - coding silent 1:21705777-21705777 - 2492703 COSM5715522 c.556T>C p.S186P Substitution - Missense 1:21752636-21752636 - ccRCC-62 COSM1664925 c.1268A>T p.Q423L Substitution - Missense 1:21729736-21729736 - TCGA-61-1727-01 COSM1320467 c.250A>G p.K84E Substitution - Missense 1:21757668-21757668 - BZ09 COSM5758060 c.1253A>C p.Y418S Substitution - Missense 1:21729751-21729751 - TCGA-D1-A174-01 COSM904150 c.1373G>A p.R458H Substitution - Missense 1:21728647-21728647 - TCGA-JW-A5VL-01 COSM3741014 c.1267C>G p.Q423E Substitution - Missense 1:21729737-21729737 - C058 COSM5525801 c.2610G>A p.V870V Substitution - coding silent 1:21703524-21703524 - YUSCO COSM1687155 c.2425A>T p.K809* Substitution - Nonsense 1:21704352-21704352 - T1764 COSM4739893 c.371G>C p.C124S Substitution - Missense 1:21756587-21756587 - ESCC-006T COSM3934491 c.2782C>G p.Q928E Substitution - Missense 1:21695167-21695167 - TCGA-66-2734-01 COSM678436 c.540G>T p.Q180H Substitution - Missense 1:21752992-21752992 - TCGA-09-2051-01 COSM119916 c.1738A>T p.N580Y Substitution - Missense 1:21721675-21721675 - P07-144 COSM248256 c.1576A>G p.I526V Substitution - Missense 1:21723970-21723970 - Patient1_Tu COSM1235663 c.751G>A p.D251N Substitution - Missense 1:21751530-21751530 - TCGA-BG-A0MT-01 COSM904157 c.761C>T p.S254L Substitution - Missense 1:21751520-21751520 - TCGA-DK-A3IK-01 COSM1295888 c.846G>C p.K282N Substitution - Missense 1:21748200-21748200 - TCGA-AA-3663-01 COSM1339019 c.2294C>A p.P765H Substitution - Missense 1:21705817-21705817 - TCGA-BG-A0VZ-01 COSM904151 c.1245G>A p.M415I Substitution - Missense 1:21729759-21729759 - 169 COSM3729012 c.135-10_135-9delTT p.? Unknown 1:21757792-21757793 - 2492700 COSM5715522 c.556T>C p.S186P Substitution - Missense 1:21752636-21752636 - 06-P036 COSM4576918 c.1853A>G p.E618G Substitution - Missense 1:21721077-21721077 - SWE-18 COSM255000 c.1243A>G p.M415V Substitution - Missense 1:21729761-21729761 - 8067182 COSM4389101 c.68T>G p.V23G Substitution - Missense 1:21782890-21782890 - TCGA-BR-4184-01 COSM4028383 c.2597T>C p.V866A Substitution - Missense 1:21703537-21703537 - BN24T COSM1601662 c.2516-10delT p.? Unknown 1:21703628-21703628 - TCGA-B5-A0JY-01 COSM904158 c.685G>T p.E229* Substitution - Nonsense 1:21751596-21751596 - Pat_34_A COSM5845546 c.1324C>T p.R442W Substitution - Missense 1:21728696-21728696 - CSCC-29-T COSM4468576 c.154C>T p.P52S Substitution - Missense 1:21757764-21757764 - TCGA-D1-A163-01 COSM904159 c.680G>A p.G227D Substitution - Missense 1:21751601-21751601 - HH14 COSM3728382 c.1807C>T p.R603C Substitution - Missense 1:21721123-21721123 - TCGA-DK-A2I4-01 COSM3789505 c.874C>G p.L292V Substitution - Missense 1:21748172-21748172 - TCGA-GI-A2C8-01 COSM1473419 c.248G>C p.R83T Substitution - Missense 1:21757670-21757670 - TCGA-FU-A3HY-01 COSM4838661 c.2747G>A p.R916Q Substitution - Missense 1:21695202-21695202 - T1764 COSM4739884 c.2570G>A p.R857H Substitution - Missense 1:21703564-21703564 - LOVO COSM1959249 c.1017C>T p.S339S Substitution - coding silent 1:21736600-21736600 - TCGA-A7-A13G-01 COSM5197951 c.990delA p.G331fs*17 Deletion - Frameshift 1:21747068-21747068 - TCGA-B5-A11E-01 COSM904147 c.1951C>A p.L651M Substitution - Missense 1:21715401-21715401 - 6115224 COSM5478120 c.895T>G p.F299V Substitution - Missense 1:21748151-21748151 - 2492701 COSM5715522 c.556T>C p.S186P Substitution - Missense 1:21752636-21752636 - 76629543 COSM1582224 c.1974C>A p.C658* Substitution - Nonsense 1:21706858-21706858 - TCGA-AC-A3OD-01 COSM3803938 c.2746C>A p.R916R Substitution - coding silent 1:21695203-21695203 - PTC_212 COSM5958291 c.2900C>T p.S967L Substitution - Missense 1:21690083-21690083 - TCGA-DD-A1EB-01 COSM4928839 c.2932G>A p.D978N Substitution - Missense 1:21690051-21690051 - PCSI_0283_Pa_P_526 COSM4806993 c.1957C>T p.P653S Substitution - Missense 1:21715395-21715395 - PCSI_0137_Pa_X COSM3376977 c.665+7C>T p.? Unknown 1:21752520-21752520 - 587342 COSM1232086 c.1535G>A p.C512Y Substitution - Missense 1:21724011-21724011 - TCGA-C5-A1BL-01 COSM1959156 c.2260C>T p.R754W Substitution - Missense 1:21706139-21706139 - TCGA-AG-A011-01 COSM290028 c.2025G>T p.L675L Substitution - coding silent 1:21706807-21706807 - PCSI_0334_Pa_P_526 COSM4965265 c.1483C>G p.Q495E Substitution - Missense 1:21724063-21724063 - C99 COSM4620323 c.165G>T p.L55F Substitution - Missense 1:21757753-21757753 - TCGA-F5-6814-01 COSM3418779 c.646G>A p.E216K Substitution - Missense 1:21752546-21752546 - 2492712 COSM5607194 c.1297C>T p.P433S Substitution - Missense 1:21729707-21729707 - TCGA-BR-7851-01 COSM4028403 c.1743G>A p.L581L Substitution - coding silent 1:21721670-21721670 - TCGA-D5-6928-01 COSM1339028 c.1871T>C p.M624T Substitution - Missense 1:21721059-21721059 - HX29T COSM3705528 c.3104A>G p.H1035R Substitution - Missense 1:21679421-21679421 - TCGA-FV-A4ZQ-01 COSM4921980 c.245G>T p.R82M Substitution - Missense 1:21757673-21757673 - TCGA-AD-5900-01 COSM1339029 c.1262A>G p.Q421R Substitution - Missense 1:21729742-21729742 - 2492714 COSM5607194 c.1297C>T p.P433S Substitution - Missense 1:21729707-21729707 - TCGA-66-2771-01 COSM678446 c.2031G>T p.Q677H Substitution - Missense 1:21706801-21706801 - CSCC-29-T COSM4486538 c.3068C>T p.P1023L Substitution - Missense 1:21680825-21680825 - 0037_CRUK_PC_0037_T1_DNA COSM904151 c.1245G>A p.M415I Substitution - Missense 1:21729759-21729759 - DLD1 COSM1667226 c.175G>T p.G59C Substitution - Missense 1:21757743-21757743 - TCGA-ED-A7PZ-01 COSM4916896 c.364A>T p.S122C Substitution - Missense 1:21756594-21756594 - TCGA-EJ-5508-01 COSM1127139 c.1245G>T p.M415I Substitution - Missense 1:21729759-21729759 - Au8 COSM5607194 c.1297C>T p.P433S Substitution - Missense 1:21729707-21729707 - S02299 COSM5689875 c.2010G>A p.E670E Substitution - coding silent 1:21706822-21706822 - C058 COSM5525799 c.2611G>A p.D871N Substitution - Missense 1:21703523-21703523 - TCGA-18-3421-01 COSM678460 c.2784A>G p.Q928Q Substitution - coding silent 1:21695165-21695165 - TCGA-AD-6895-01 COSM904157 c.761C>T p.S254L Substitution - Missense 1:21751520-21751520 - TCGA-EP-A2KB-01 COSM1667226 c.175G>T p.G59C Substitution - Missense 1:21757743-21757743 - Pat_59_B COSM5845541 c.2810G>A p.R937Q Substitution - Missense 1:21695139-21695139 - T98G COSM1959122 c.2434G>A p.V812I Substitution - Missense 1:21704343-21704343 - 2492702 COSM5715522 c.556T>C p.S186P Substitution - Missense 1:21752636-21752636 - TCGA-A6-5665-01 COSM1339032 c.177T>C p.G59G Substitution - coding silent 1:21757741-21757741 - pfg127T COSM4765659 c.471_472insA p.S158fs*2 Insertion - Frameshift 1:21753060-21753061 - TCGA-AN-A046-01 COSM3803952 c.955G>T p.E319* Substitution - Nonsense 1:21747103-21747103 - HCC20T COSM1601666 c.1587G>T p.R529S Substitution - Missense 1:21723959-21723959 - HCT-15 COSM1667226 c.175G>T p.G59C Substitution - Missense 1:21757743-21757743 - YUZEST COSM1687154 c.2599C>T p.H867Y Substitution - Missense 1:21703535-21703535 - TCGA-CG-5720-01 COSM4028406 c.953C>G p.S318* Substitution - Nonsense 1:21747105-21747105 - LP6007398-DNA_A01 COSM5951614 c.759C>T p.I253I Substitution - coding silent 1:21751522-21751522 - TCGA-BR-6452-01 COSM3984746 c.936T>C p.N312N Substitution - coding silent 1:21747122-21747122 - LIM1215 COSM4232194 c.2081A>G p.Q694R Substitution - Missense 1:21706751-21706751 - BCM265T COSM4949936 c.786A>T p.L262F Substitution - Missense 1:21748260-21748260 - NB-0058 COSM1288858 c.1793_1795delCCT p.S598delS Deletion - In frame 1:21721135-21721137 - TCGA-G3-A25S-01 COSM4926828 c.1500A>G p.E500E Substitution - coding silent 1:21724046-21724046 - TCGA-EE-A2A6-06 COSM3483857 c.1429C>T p.Q477* Substitution - Nonsense 1:21728591-21728591 - TCGA-AM-5821-01 COSM3750883 c.210T>C p.N70N Substitution - coding silent 1:21757708-21757708 - TCGA-BR-8680-01 COSM4028405 c.1196G>A p.R399H Substitution - Missense 1:21729808-21729808 - 169 COSM3728817 c.2385-7delT p.? Unknown 1:21704399-21704399 - TCGA-AR-A2LM-01 COSM3803939 c.2732A>G p.N911S Substitution - Missense 1:21695217-21695217 - TCGA-AA-A00N-01 COSM278049 c.156G>A p.P52P Substitution - coding silent 1:21757762-21757762 - TCGA-J4-A6G1-01 COSM4392945 c.896T>G p.F299C Substitution - Missense 1:21748150-21748150 - TCGA-AG-3878-01 COSM288361 c.2862G>A p.T954T Substitution - coding silent 1:21695087-21695087 - TCGA-18-3415-01 COSM678442 c.1083A>G p.P361P Substitution - coding silent 1:21736534-21736534 - TCGA-EB-A5UL-06 COSM3483858 c.938C>T p.T313I Substitution - Missense 1:21747120-21747120 - YURAY COSM5379697 c.323T>C p.F108S Substitution - Missense 1:21756635-21756635 - sysucc-641T COSM5460403 c.81C>T p.H27H Substitution - coding silent 1:21782877-21782877 - BCM265T COSM4949936 c.786A>T p.L262F Substitution - Missense 1:21748260-21748260 - TCGA-EM-A22P-01 COSM3369548 c.2089-1G>C p.? Unknown 1:21706590-21706590 - sysucc-875T COSM5460403 c.81C>T p.H27H Substitution - coding silent 1:21782877-21782877 - 2318492 COSM4777040 c.2572G>A p.E858K Substitution - Missense 1:21703562-21703562 - TCGA-G2-A2ES-01 COSM1295887 c.905A>T p.D302V Substitution - Missense 1:21748141-21748141 - S02284 COSM5702097 c.946_947GG>TT p.G316F Substitution - Missense 1:21747111-21747112 - TCGA-BJ-A28V-01 COSM3369549 c.147A>G p.K49K Substitution - coding silent 1:21757771-21757771 - 10-P4110 COSM4576919 c.991G>A p.G331S Substitution - Missense 1:21747067-21747067 - TCGA-JX-A3Q0-01 COSM4824196 c.1357G>C p.E453Q Substitution - Missense 1:21728663-21728663 - OSCC-GB_00820111 COSM4887285 c.2701G>T p.G901* Substitution - Nonsense 1:21701524-21701524 - TCGA-AP-A056-01 COSM904148 c.1918G>T p.E640* Substitution - Nonsense 1:21715434-21715434 - HN_62739 COSM128452 c.1278C>G p.P426P Substitution - coding silent 1:21729726-21729726 - TCGA-D3-A2JP-06 COSM3483844 c.2161C>T p.P721S Substitution - Missense 1:21706517-21706517 - TCGA-BS-A0UF-01 COSM904160 c.600A>C p.Q200H Substitution - Missense 1:21752592-21752592 - TCGA-EI-6917-01 COSM3418775 c.2373A>T p.E791D Substitution - Missense 1:21705738-21705738 - 100960 COSM96272 c.1239A>T p.A413A Substitution - coding silent 1:21729765-21729765 - TCGA-CG-4304-01 COSM4028407 c.663T>G p.T221T Substitution - coding silent 1:21752529-21752529 - ESCC-006T COSM3934493 c.1825C>T p.Q609* Substitution - Nonsense 1:21721105-21721105 - Pat_06_B COSM5845551 c.411delA p.D138fs*83 Deletion - Frameshift 1:21756547-21756547 - TCGA-BS-A0UA-01 COSM904156 c.770T>A p.L257* Substitution - Nonsense 1:21751511-21751511 - RK156_C01 COSM3700630 c.792A>G p.G264G Substitution - coding silent 1:21748254-21748254 - TCGA-FJ-A3Z7-01 COSM3789504 c.2151G>C p.K717N Substitution - Missense 1:21706527-21706527 - 2492711 COSM5607194 c.1297C>T p.P433S Substitution - Missense 1:21729707-21729707 - TCGA-C8-A12K-01 COSM425361 c.225C>A p.I75I Substitution - coding silent 1:21757693-21757693 - TCGA-BR-7196-01 COSM4028384 c.2512C>T p.P838S Substitution - Missense 1:21704265-21704265 - TCGA-ED-A7XP-01 COSM4913402 c.143G>A p.C48Y Substitution - Missense 1:21757775-21757775 - BD49T COSM5497534 c.3085+2T>C p.? Unknown 1:21680806-21680806 - CHC1148T COSM4954809 c.1151T>C p.L384P Substitution - Missense 1:21736466-21736466 - TCGA-AX-A0J0-01 COSM904153 c.831_832delGA p.N278fs*9 Deletion - Frameshift 1:21748214-21748215 - BICR_22 COSM1959149 c.2335G>A p.G779R Substitution - Missense 1:21705776-21705776 - TCGA-34-5231-01 COSM678439 c.615G>A p.V205V Substitution - coding silent 1:21752577-21752577 - TCGA-CA-6717-01 COSM1339031 c.1070A>G p.H357R Substitution - Missense 1:21736547-21736547 - TCGA-AZ-4315-01 COSM1339030 c.1128G>T p.K376N Substitution - Missense 1:21736489-21736489 - TCGA-AX-A06H-01 COSM904152 c.893G>A p.R298H Substitution - Missense 1:21748153-21748153 - C0013T COSM4135972 c.2905G>T p.A969S Substitution - Missense 1:21690078-21690078 - T3099 COSM4739886 c.2459C>T p.T820M Substitution - Missense 1:21704318-21704318 - TCGA-P4-A5E6-01 COSM3984746 c.936T>C p.N312N Substitution - coding silent 1:21747122-21747122 - TARGET-30-PAIXNC-01A-01W COSM1288858 c.1793_1795delCCT p.S598delS Deletion - In frame 1:21721135-21721137 - RK211_C01 COSM3741013 c.1771G>A p.G591R Substitution - Missense 1:21721159-21721159 - TCGA-D1-A17Q-01 COSM904182 c.155C>T p.P52L Substitution - Missense 1:21757763-21757763 - CHEWS036 COSM4576922 c.389G>C p.G130A Substitution - Missense 1:21756569-21756569 - TCGA-HU-A4H4-01 COSM4028409 c.514T>C p.L172L Substitution - coding silent 1:21753018-21753018 - 2492713 COSM5607194 c.1297C>T p.P433S Substitution - Missense 1:21729707-21729707 - TCGA-HF-7132-01 COSM4028362 c.2988T>C p.P996P Substitution - coding silent 1:21689995-21689995 - TCGA-AA-3525-01 COSM291760 c.3090T>A p.T1030T Substitution - coding silent 1:21679435-21679435 - 61 COSM5735319 c.1240T>C p.Y414H Substitution - Missense 1:21729764-21729764 - 2318492 COSM4777038 c.2677G>A p.D893N Substitution - Missense 1:21701548-21701548 - HCC143 COSM3705533 c.980T>A p.V327E Substitution - Missense 1:21747078-21747078 - TCGA-G4-6628-01 COSM1339033 c.127G>A p.V43M Substitution - Missense 1:21782831-21782831 - T3225 COSM4739892 c.1102A>G p.K368E Substitution - Missense 1:21736515-21736515 - CSCC-41-T COSM4460754 c.1178C>T p.P393L Substitution - Missense 1:21729826-21729826 - SC_9083 COSM5563398 c.598C>T p.Q200* Substitution - Nonsense 1:21752594-21752594 - TCGA-B5-A11E-01 COSM904165 c.420G>T p.E140D Substitution - Missense 1:21753112-21753112 - TCGA-D5-6930-01 COSM1339020 c.2273G>A p.R758K Substitution - Missense 1:21706126-21706126 - SNU-C2B COSM1959063 c.2874G>A p.L958L Substitution - coding silent 1:21695075-21695075 - TCGA-BR-8680-01 COSM4028404 c.1408G>A p.E470K Substitution - Missense 1:21728612-21728612 - T3658 COSM4739888 c.1673T>C p.V558A Substitution - Missense 1:21721740-21721740 - BD183T COSM5507983 c.2045C>A p.A682D Substitution - Missense 1:21706787-21706787 - RK308_C01 COSM3741014 c.1267C>G p.Q423E Substitution - Missense 1:21729737-21729737 - sysucc-311T COSM5478120 c.895T>G p.F299V Substitution - Missense 1:21748151-21748151 - TCGA-A6-5661-01 COSM1339006 c.2980G>A p.V994I Substitution - Missense 1:21690003-21690003 - HCC143T COSM3705533 c.980T>A p.V327E Substitution - Missense 1:21747078-21747078 - CAL33 COSM4594130 c.117C>A p.C39* Substitution - Nonsense 1:21782841-21782841 - TCGA-24-1104-01 COSM76973 c.2820A>T p.K940N Substitution - Missense 1:21695129-21695129 - HCC20 COSM1601666 c.1587G>T p.R529S Substitution - Missense 1:21723959-21723959 - TCGA-CG-5730-01 COSM4028392 c.2216C>T p.T739M Substitution - Missense 1:21706183-21706183 - NPC26F COSM4995377 c.1586G>A p.R529K Substitution - Missense 1:21723960-21723960 - TCGA-AP-A0LG-01 COSM904149 c.1688G>A p.R563H Substitution - Missense 1:21721725-21721725 - TCGA-AN-A046-01 COSM3803937 c.2755A>G p.I919V Substitution - Missense 1:21695194-21695194 - LUAD-NYU284 COSM372512 c.1114G>T p.E372* Substitution - Nonsense 1:21736503-21736503 - TCGA-AA-A010-01 COSM286406 c.1913G>T p.R638I Substitution - Missense 1:21715439-21715439 - TCGA-BP-5182-01 COSM463954 c.2318C>T p.A773V Substitution - Missense 1:21705793-21705793 - SCC-9 COSM1959156 c.2260C>T p.R754W Substitution - Missense 1:21706139-21706139 - LN18 COSM1959266 c.674A>G p.Q225R Substitution - Missense 1:21751607-21751607 - TCGA-B5-A0JY-01 COSM904122 c.2374G>T p.D792Y Substitution - Missense 1:21705737-21705737 - TCGA-AA-3966-01 COSM273450 c.1372C>T p.R458C Substitution - Missense 1:21728648-21728648 - I2L-P7-Tumor-Organoid COSM5367587 c.3059-4_3059-3insT p.? Unknown 1:21680837-21680838 - HCC4T COSM1601668 c.135-9delT p.? Unknown 1:21757792-21757792 - CSCC-44-T COSM4456570 c.1014C>T p.L338L Substitution - coding silent 1:21736603-21736603 - CSCC-7-T COSM4535861 c.2241G>C p.Q747H Substitution - Missense 1:21706158-21706158 - TCGA-EE-A29B-06 COSM3483864 c.683G>A p.R228K Substitution - Missense 1:21751598-21751598 - T55 COSM4739890 c.1455C>A p.P485P Substitution - coding silent 1:21724091-21724091 - TCGA-AA-A00N-01 COSM278048 c.1232G>A p.R411Q Substitution - Missense 1:21729772-21729772 - cSCCP6 COSM136101 c.628C>T p.Q210* Substitution - Nonsense 1:21752564-21752564 - TCGA-IR-A3LH-01 COSM4832908 c.1495G>C p.D499H Substitution - Missense 1:21724051-21724051 - TCGA-AC-A3BB-01 COSM1959150 c.2334C>T p.H778H Substitution - coding silent 1:21705777-21705777 - TCGA-AB-2943-03 COSM1317576 c.2095G>T p.E699* Substitution - Nonsense 1:21706583-21706583 - B10-Tumor COSM255000 c.1243A>G p.M415V Substitution - Missense 1:21729761-21729761 - B10 COSM255000 c.1243A>G p.M415V Substitution - Missense 1:21729761-21729761 - CHC1148T COSM4954809 c.1151T>C p.L384P Substitution - Missense 1:21736466-21736466 - WSU-HN13 COSM4601433 c.1964-6A>T p.? Unknown 1:21706874-21706874 - BN24T COSM1601668 c.135-9delT p.? Unknown 1:21757792-21757792 - TCGA-AA-3858-01 COSM295934 c.2569C>T p.R857C Substitution - Missense 1:21703565-21703565 - PA090 COSM1162379 c.1797G>C p.L599F Substitution - Missense 1:21721133-21721133 - HCT15 COSM1667226 c.175G>T p.G59C Substitution - Missense 1:21757743-21757743 - TCGA-CZ-5987-01 COSM463960 c.494C>A p.P165Q Substitution - Missense 1:21753038-21753038 - 66 COSM5742690 c.1484A>T p.Q495L Substitution - Missense 1:21724062-21724062 - 94 COSM5014081 c.1657C>A p.L553M Substitution - Missense 1:21721756-21721756 - TCGA-EA-A5FO-01 COSM4028404 c.1408G>A p.E470K Substitution - Missense 1:21728612-21728612 - ccRCC-30 COSM904150 c.1373G>A p.R458H Substitution - Missense 1:21728647-21728647 - TCGA-A3-3347-01 COSM3360679 c.2338G>C p.G780R Substitution - Missense 1:21705773-21705773 - LOVO COSM1959235 c.1798C>T p.R600W Substitution - Missense 1:21721132-21721132 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.467411;Hs.467450;Hs.467456;Hs.467500;Hs.467524 1p36.12

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AA - IntronicDeletion . c.2884-23_2884-22delTT 1 22016614 STAD A C IntronicSNV . c.1649-976T>G 1 22049233 CLL A C Missense p.F299C c.896T>G 1 22074643 PRAD A C Synonymous p.T221T c.663T>G 1 22079022 STAD AGG - InFrameDeletion p.S598delS c.1793_1795delCCT 1 22047628 NB A G IntronicSNV . c.1649-740T>C 1 22048997 CLL A G Synonymous p.A969A c.2907T>C 1 22016569 HNSC A - IntronicDeletion . c.135-10770delT 1 22095046 CM A - IntronicDeletion . c.413-55delT 1 22079667 STAD A T Missense p.N579K c.1737T>A 1 22048169 CM A T Nonsense p.L257* c.770T>A 1 22078004 UCEC C A Missense p.M415I c.1245G>T 1 22056252 PRAD C A Missense p.Q180H c.540G>T 1 22079485 LUSC C A Missense p.Q677H c.2031G>T 1 22033294 LUSC C A Nonsense p.E699* c.2095G>T 1 22033076 AML C A Synonymous p.L675L c.2025G>T 1 22033300 COREAD C A Synonymous p.S254S c.762G>T 1 22078012 LUAD C G Missense p.D826H c.2476G>C 1 22030794 LUAD C G Missense p.G780R c.2338G>C 1 22032266 RCCC C G Missense p.K282N c.846G>C 1 22074693 BLCA C G Missense p.R83T c.248G>C 1 22084163 BRCA C G SpliceAcceptorSNV . c.2089-1G>C 1 22033083 THCA C T IntronicSNV . c.1451-639G>A 1 22051227 HC C T IntronicSNV . c.2727+5G>A 1 22027986 BRCA C T Missense p.G227D c.680G>A 1 22078094 UCEC C T Missense p.M415I c.1245G>A 1 22056252 UCEC C T Missense p.R114Q c.341G>A 1 22083110 LUAD C T Missense p.R228K c.683G>A 1 22078091 CM C T Missense p.R298H c.893G>A 1 22074646 UCEC C T Missense p.R563H c.1688G>A 1 22048218 UCEC C T Synonymous p.T954T c.2862G>A 1 22021580 COREAD C T Synonymous p.V205V c.615G>A 1 22079070 LUSC G A IntronicSNV . c.135-10488C>T 1 22094764 CM G A Missense p.A773V c.2318C>T 1 22032286 RCCC G A Missense p.P721S c.2161C>T 1 22033010 CM G A Missense p.R442W c.1324C>T 1 22055189 BRCA G A Missense p.R857C c.2569C>T 1 22030058 COREAD G A Missense p.S254L c.761C>T 1 22078013 UCEC G A Missense p.S768L c.2303C>T 1 22032301 LUAD G A Missense p.T739M c.2216C>T 1 22032676 STAD G A Nonsense p.Q477* c.1429C>T 1 22055084 CM G A Nonsense p.Q677* c.2029C>T 1 22033296 LUAD G C Missense p.H408D c.1222C>G 1 22056275 LUAD G C Missense p.L104V c.310C>G 1 22083141 MM G C Missense p.L292V c.874C>G 1 22074665 BLCA G C Nonsense p.S318* c.953C>G 1 22073598 STAD G C Synonymous p.P426P c.1278C>G 1 22056219 HNSC G T Missense p.P165Q c.494C>A 1 22079531 RCCC G T Synonymous p.I75I c.225C>A 1 22084186 BRCA T A Missense p.D302V c.905A>T 1 22074634 BLCA T A Missense p.I163F c.487A>T 1 22079538 CM T A Missense p.K940N c.2820A>T 1 22021622 OV T A Missense p.N580Y c.1738A>T 1 22048168 OV T A Missense p.Y865F c.2594A>T 1 22030033 HNSC T C IntronicSNV . c.3059-154A>G 1 22007481 HC T C Missense p.D195G c.584A>G 1 22079101 STAD T C Missense p.M415V c.1243A>G 1 22056254 CLL T C Missense p.T176A c.526A>G 1 22079499 COREAD T C Synonymous p.K49K c.147A>G 1 22084264 THCA T C Synonymous p.P361P c.1083A>G 1 22063027 LUSC T C Synonymous p.Q928Q c.2784A>G 1 22021658 LUSC