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 ACC 6 42610157 42610157 + Missense_Mutation SNP T T A TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr6:42610157T>A c.2035T>A c.(2035-2037)Tat>Aat p.Y679N ACC 6 42627467 42627467 + Missense_Mutation SNP G G A TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr6:42627467G>A c.3316G>A c.(3316-3318)Gtt>Att p.V1106I BLCA 6 42532121 42532121 + Nonsense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr6:42532121G>T c.64G>T c.(64-66)Gag>Tag p.E22* BLCA 6 42541690 42541690 + Nonsense_Mutation SNP T T A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr6:42541690T>A c.297T>A c.(295-297)tgT>tgA p.C99* BLCA 6 42571355 42571355 + Silent SNP G G A TCGA-XF-A9T6-01A-11D-A42E-08 TCGA-XF-A9T6-10A-01D-A42H-08 g.chr6:42571355G>A c.561G>A c.(559-561)gtG>gtA p.V187V BLCA 6 42583757 42583757 + Missense_Mutation SNP C C T TCGA-DK-A6AV-01A-12D-A30E-08 TCGA-DK-A6AV-10A-01D-A30H-08 g.chr6:42583757C>T c.1111C>T c.(1111-1113)Cat>Tat p.H371Y BLCA 6 42600415 42600415 + Missense_Mutation SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr6:42600415C>G c.1407C>G c.(1405-1407)ttC>ttG p.F469L BLCA 6 42600451 42600451 + Silent SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chr6:42600451C>G c.1443C>G c.(1441-1443)ctC>ctG p.L481L BLCA 6 42613228 42613228 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 g.chr6:42613228G>C c.2309G>C c.(2308-2310)gGa>gCa p.G770A BLCA 6 42613323 42613323 + Missense_Mutation SNP G G A TCGA-HQ-A5NE-01A-12D-A289-08 TCGA-HQ-A5NE-10A-01D-A289-08 g.chr6:42613323G>A c.2404G>A c.(2404-2406)Gaa>Aaa p.E802K BLCA 6 42625826 42625826 + Silent SNP T T G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 g.chr6:42625826T>G c.2937T>G c.(2935-2937)gcT>gcG p.A979A BLCA 6 42626436 42626436 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 g.chr6:42626436G>A c.3116G>A c.(3115-3117)aGa>aAa p.R1039K BLCA 6 42626499 42626499 + Missense_Mutation SNP A A G TCGA-4Z-AA82-01A-11D-A391-08 TCGA-4Z-AA82-10A-01D-A394-08 g.chr6:42626499A>G c.3179A>G c.(3178-3180)aAc>aGc p.N1060S BLCA 6 42637841 42637841 + Missense_Mutation SNP C C T TCGA-4Z-AA80-01A-11D-A391-08 TCGA-4Z-AA80-10A-01D-A394-08 g.chr6:42637841C>T c.3893C>T c.(3892-3894)tCt>tTt p.S1298F BLCA 6 42637866 42637866 + Silent SNP G G A TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr6:42637866G>A c.3918G>A c.(3916-3918)acG>acA p.T1306T BLCA 6 42638415 42638415 + Missense_Mutation SNP G G A TCGA-4Z-AA80-01A-11D-A391-08 TCGA-4Z-AA80-10A-01D-A394-08 g.chr6:42638415G>A c.4048G>A c.(4048-4050)Gaa>Aaa p.E1350K BLCA 6 42641590 42641590 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 g.chr6:42641590C>T c.4148C>T c.(4147-4149)tCa>tTa p.S1383L BLCA 6 42641914 42641914 + Missense_Mutation SNP G G A TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 g.chr6:42641914G>A c.4234G>A c.(4234-4236)Gac>Aac p.D1412N BLCA 6 42643844 42643844 + Silent SNP G G A TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr6:42643844G>A c.4302G>A c.(4300-4302)ggG>ggA p.G1434G BLCA 6 42647461 42647461 + Splice_Site SNP G G C TCGA-4Z-AA81-01A-11D-A391-08 TCGA-4Z-AA81-10A-01D-A394-08 g.chr6:42647461G>C c.e42-1 BLCA 6 42652567 42652567 + Missense_Mutation SNP C C T TCGA-4Z-AA7Q-01A-11D-A391-08 TCGA-4Z-AA7Q-10A-01D-A394-08 g.chr6:42652567C>T c.4811C>T c.(4810-4812)cCa>cTa p.P1604L BLCA 6 42655960 42655960 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr6:42655960G>A c.4860G>A c.(4858-4860)ccG>ccA p.P1620P BLCA 6 42658809 42658809 + Silent SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 g.chr6:42658809G>A c.5166G>A c.(5164-5166)aaG>aaA p.K1722K BLCA 6 42658907 42658907 + Nonsense_Mutation SNP T T A TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr6:42658907T>A c.5264T>A c.(5263-5265)tTa>tAa p.L1755* BRCA 6 42532065 42532065 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr6:42532065C>G c.8C>G c.(7-9)tCg>tGg p.S3W BRCA 6 42571368 42571368 + Missense_Mutation SNP T T C TCGA-A2-A0EQ-01A-11W-A050-09 TCGA-A2-A0EQ-10A-01W-A055-09 g.chr6:42571368T>C c.574T>C c.(574-576)Tat>Cat p.Y192H BRCA 6 42585064 42585064 + Silent SNP C C T TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 g.chr6:42585064C>T c.1269C>T c.(1267-1269)acC>acT p.T423T BRCA 6 42585066 42585066 + Missense_Mutation SNP C C T TCGA-E9-A1N5-01A-11D-A14G-09 TCGA-E9-A1N5-10A-01D-A14G-09 g.chr6:42585066C>T c.1271C>T c.(1270-1272)gCa>gTa p.A424V BRCA 6 42612058 42612058 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr6:42612058C>T c.2204C>T c.(2203-2205)tCt>tTt p.S735F BRCA 6 42612060 42612060 + Missense_Mutation SNP G G A TCGA-BH-A28O-01A-11D-A228-09 TCGA-BH-A28O-10A-01D-A22A-09 g.chr6:42612060G>A c.2206G>A c.(2206-2208)Gag>Aag p.E736K BRCA 6 42620364 42620364 + Missense_Mutation SNP C C T TCGA-E2-A2P6-01A-11D-A19Y-09 TCGA-E2-A2P6-10B-01D-A19Y-09 g.chr6:42620364C>T c.2750C>T c.(2749-2751)tCa>tTa p.S917L BRCA 6 42626013 42626013 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr6:42626013A>C c.3018A>C c.(3016-3018)tcA>tcC p.S1006S BRCA 6 42626034 42626034 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr6:42626034G>C c.3039G>C c.(3037-3039)gaG>gaC p.E1013D BRCA 6 42627561 42627562 + Frame_Shift_Ins INS - - A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr6:42627561_42627562insA c.3410_3411insA c.(3409-3414)tcaaaafs p.SK1137fs BRCA 6 42629951 42629951 + Missense_Mutation SNP G G A TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 g.chr6:42629951G>A c.3472G>A c.(3472-3474)Gat>Aat p.D1158N BRCA 6 42641867 42641867 + Missense_Mutation SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr6:42641867T>C c.4187T>C c.(4186-4188)cTg>cCg p.L1396P BRCA 6 42644559 42644559 + Nonsense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr6:42644559G>T c.4426G>T c.(4426-4428)Gaa>Taa p.E1476* BRCA 6 42644577 42644577 + Missense_Mutation SNP G G T TCGA-BH-A42U-01A-12D-A243-09 TCGA-BH-A42U-10A-01D-A243-09 g.chr6:42644577G>T c.4444G>T c.(4444-4446)Gct>Tct p.A1482S BRCA 6 42652568 42652568 + Silent SNP A A G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 g.chr6:42652568A>G c.4812A>G c.(4810-4812)ccA>ccG p.P1604P BRCA 6 42657406 42657406 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr6:42657406C>T c.5124C>T c.(5122-5124)ctC>ctT p.L1708L CESC 6 42600322 42600322 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr6:42600322G>A c.1314G>A c.(1312-1314)atG>atA p.M438I CESC 6 42600337 42600337 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr6:42600337G>A c.1329G>A c.(1327-1329)aaG>aaA p.K443K CESC 6 42646299 42646299 + Missense_Mutation SNP G G A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 g.chr6:42646299G>A c.4501G>A c.(4501-4503)Ggc>Agc p.G1501S CESC 6 42655973 42655973 + Missense_Mutation SNP G G C TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 g.chr6:42655973G>C c.4873G>C c.(4873-4875)Gat>Cat p.D1625H CESC 6 42657395 42657395 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 g.chr6:42657395G>A c.5113G>A c.(5113-5115)Gac>Aac p.D1705N CHOL 6 42600594 42600594 + Missense_Mutation SNP G G T TCGA-W5-AA2Q-01A-11D-A417-09 TCGA-W5-AA2Q-10A-01D-A41A-09 g.chr6:42600594G>T c.1497G>T c.(1495-1497)aaG>aaT p.K499N CHOL 6 42644579 42644579 + Silent SNP T T G TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr6:42644579T>G c.4446T>G c.(4444-4446)gcT>gcG p.A1482A COAD 6 42559960 42559960 + Missense_Mutation SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr6:42559960G>A c.410G>A c.(409-411)cGa>cAa p.R137Q COAD 6 42573529 42573529 + Missense_Mutation SNP A A G TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr6:42573529A>G c.733A>G c.(733-735)Act>Gct p.T245A COAD 6 42573530 42573530 + Missense_Mutation SNP C C A TCGA-D5-6922-01A-11D-1924-10 TCGA-D5-6922-10A-01D-1924-10 g.chr6:42573530C>A c.734C>A c.(733-735)aCt>aAt p.T245N COAD 6 42573531 42573531 + Silent SNP T T C TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr6:42573531T>C c.735T>C c.(733-735)acT>acC p.T245T COAD 6 42573531 42573531 + Silent SNP T T C TCGA-CM-6172-01A-11D-1650-10 TCGA-CM-6172-10A-01D-1650-10 g.chr6:42573531T>C c.735T>C c.(733-735)acT>acC p.T245T COAD 6 42582835 42582835 + Missense_Mutation SNP G G T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr6:42582835G>T c.1012G>T c.(1012-1014)Gtt>Ttt p.V338F COAD 6 42585005 42585005 + Missense_Mutation SNP A A G TCGA-AA-3558-01A-01W-0831-10 TCGA-AA-3558-10A-01W-0831-10 g.chr6:42585005A>G c.1210A>G c.(1210-1212)Atg>Gtg p.M404V COAD 6 42604752 42604752 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr6:42604752A>C c.1678A>C c.(1678-1680)Aaa>Caa p.K560Q COAD 6 42609391 42609391 + Silent SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr6:42609391C>T c.1992C>T c.(1990-1992)gcC>gcT p.A664A COAD 6 42615888 42615888 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:42615888C>T c.2442C>T c.(2440-2442)atC>atT p.I814I COAD 6 42620257 42620257 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:42620257C>A c.2643C>A c.(2641-2643)ttC>ttA p.F881L COAD 6 42623408 42623408 + Missense_Mutation SNP A A G TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr6:42623408A>G c.2819A>G c.(2818-2820)gAg>gGg p.E940G COAD 6 42623408 42623408 + Missense_Mutation SNP A A G TCGA-CA-6715-01A-21D-1835-10 TCGA-CA-6715-10A-01D-1835-10 g.chr6:42623408A>G c.2819A>G c.(2818-2820)gAg>gGg p.E940G COAD 6 42623408 42623408 + Missense_Mutation SNP A A G TCGA-DM-A285-01A-11D-A16V-10 TCGA-DM-A285-10A-01D-A16V-10 g.chr6:42623408A>G c.2819A>G c.(2818-2820)gAg>gGg p.E940G COAD 6 42627579 42627579 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:42627579T>G c.3428T>G c.(3427-3429)tTt>tGt p.F1143C COAD 6 42629983 42629983 + Silent SNP T T C TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr6:42629983T>C c.3504T>C c.(3502-3504)tgT>tgC p.C1168C COAD 6 42631104 42631104 + Silent SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr6:42631104C>T c.3645C>T c.(3643-3645)tgC>tgT p.C1215C COAD 6 42633976 42633976 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr6:42633976C>T c.3874C>T c.(3874-3876)Cgt>Tgt p.R1292C COAD 6 42637958 42637958 + Missense_Mutation SNP C C T TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr6:42637958C>T c.4010C>T c.(4009-4011)gCg>gTg p.A1337V COAD 6 42644527 42644527 + Missense_Mutation SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr6:42644527A>G c.4394A>G c.(4393-4395)aAt>aGt p.N1465S COAD 6 42650840 42650840 + Missense_Mutation SNP A A G TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr6:42650840A>G c.4766A>G c.(4765-4767)gAt>gGt p.D1589G COAD 6 42652542 42652542 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:42652542G>A c.4786G>A c.(4786-4788)Gaa>Aaa p.E1596K COAD 6 42658866 42658866 + Missense_Mutation SNP G G T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr6:42658866G>T c.5223G>T c.(5221-5223)caG>caT p.Q1741H COADREAD 6 42559960 42559960 + Missense_Mutation SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr6:42559960G>A c.410G>A c.(409-411)cGa>cAa p.R137Q COADREAD 6 42571414 42571414 + Missense_Mutation SNP C C T TCGA-AF-2691-01A-01W-0831-10 TCGA-AF-2691-10A-01W-0831-10 g.chr6:42571414C>T c.620C>T c.(619-621)aCc>aTc p.T207I COADREAD 6 42573529 42573529 + Missense_Mutation SNP A A G TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr6:42573529A>G c.733A>G c.(733-735)Act>Gct p.T245A COADREAD 6 42573530 42573530 + Missense_Mutation SNP C C A TCGA-D5-6922-01A-11D-1924-10 TCGA-D5-6922-10A-01D-1924-10 g.chr6:42573530C>A c.734C>A c.(733-735)aCt>aAt p.T245N COADREAD 6 42573531 42573531 + Silent SNP T T C TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr6:42573531T>C c.735T>C c.(733-735)acT>acC p.T245T COADREAD 6 42573531 42573531 + Silent SNP T T C TCGA-CM-6172-01A-11D-1650-10 TCGA-CM-6172-10A-01D-1650-10 g.chr6:42573531T>C c.735T>C c.(733-735)acT>acC p.T245T COADREAD 6 42574351 42574351 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:42574351G>T c.826G>T c.(826-828)Gat>Tat p.D276Y COADREAD 6 42582835 42582835 + Missense_Mutation SNP G G T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr6:42582835G>T c.1012G>T c.(1012-1014)Gtt>Ttt p.V338F COADREAD 6 42585005 42585005 + Missense_Mutation SNP A A G TCGA-AA-3558-01A-01W-0831-10 TCGA-AA-3558-10A-01W-0831-10 g.chr6:42585005A>G c.1210A>G c.(1210-1212)Atg>Gtg p.M404V COADREAD 6 42600420 42600420 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:42600420T>G c.1412T>G c.(1411-1413)tTt>tGt p.F471C COADREAD 6 42604752 42604752 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr6:42604752A>C c.1678A>C c.(1678-1680)Aaa>Caa p.K560Q COADREAD 6 42609391 42609391 + Silent SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr6:42609391C>T c.1992C>T c.(1990-1992)gcC>gcT p.A664A COADREAD 6 42612253 42612253 + Missense_Mutation SNP T T C TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr6:42612253T>C c.2263T>C c.(2263-2265)Tac>Cac p.Y755H COADREAD 6 42615888 42615888 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:42615888C>T c.2442C>T c.(2440-2442)atC>atT p.I814I COADREAD 6 42620257 42620257 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:42620257C>A c.2643C>A c.(2641-2643)ttC>ttA p.F881L COADREAD 6 42623408 42623408 + Missense_Mutation SNP A A G TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr6:42623408A>G c.2819A>G c.(2818-2820)gAg>gGg p.E940G COADREAD 6 42623408 42623408 + Missense_Mutation SNP A A G TCGA-CA-6715-01A-21D-1835-10 TCGA-CA-6715-10A-01D-1835-10 g.chr6:42623408A>G c.2819A>G c.(2818-2820)gAg>gGg p.E940G COADREAD 6 42623408 42623408 + Missense_Mutation SNP A A G TCGA-DM-A285-01A-11D-A16V-10 TCGA-DM-A285-10A-01D-A16V-10 g.chr6:42623408A>G c.2819A>G c.(2818-2820)gAg>gGg p.E940G COADREAD 6 42627579 42627579 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:42627579T>G c.3428T>G c.(3427-3429)tTt>tGt p.F1143C COADREAD 6 42629983 42629983 + Silent SNP T T C TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr6:42629983T>C c.3504T>C c.(3502-3504)tgT>tgC p.C1168C COADREAD 6 42631104 42631104 + Silent SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr6:42631104C>T c.3645C>T c.(3643-3645)tgC>tgT p.C1215C COADREAD 6 42633976 42633976 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr6:42633976C>T c.3874C>T c.(3874-3876)Cgt>Tgt p.R1292C COADREAD 6 42637958 42637958 + Missense_Mutation SNP C C T TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr6:42637958C>T c.4010C>T c.(4009-4011)gCg>gTg p.A1337V COADREAD 6 42644527 42644527 + Missense_Mutation SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr6:42644527A>G c.4394A>G c.(4393-4395)aAt>aGt p.N1465S COADREAD 6 42647492 42647492 + Missense_Mutation SNP G G C TCGA-F5-6813-01A-11D-1826-10 TCGA-F5-6813-10A-01D-1826-10 g.chr6:42647492G>C c.4640G>C c.(4639-4641)tGt>tCt p.C1547S COADREAD 6 42650840 42650840 + Missense_Mutation SNP A A G TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr6:42650840A>G c.4766A>G c.(4765-4767)gAt>gGt p.D1589G COADREAD 6 42652542 42652542 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:42652542G>A c.4786G>A c.(4786-4788)Gaa>Aaa p.E1596K COADREAD 6 42658815 42658815 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:42658815T>G c.5172T>G c.(5170-5172)atT>atG p.I1724M COADREAD 6 42658866 42658866 + Missense_Mutation SNP G G T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr6:42658866G>T c.5223G>T c.(5221-5223)caG>caT p.Q1741H DLBC 6 42562027 42562027 + Missense_Mutation SNP A A T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr6:42562027A>T c.516A>T c.(514-516)gaA>gaT p.E172D DLBC 6 42613298 42613298 + Silent SNP T T C TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr6:42613298T>C c.2379T>C c.(2377-2379)caT>caC p.H793H ESCA 6 42582821 42582821 + Missense_Mutation SNP G G T TCGA-LN-A4A8-01A-32D-A27G-09 TCGA-LN-A4A8-10A-01D-A27G-09 g.chr6:42582821G>T c.998G>T c.(997-999)cGg>cTg p.R333L ESCA 6 42652546 42652546 + Missense_Mutation SNP C C A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 g.chr6:42652546C>A c.4790C>A c.(4789-4791)tCt>tAt p.S1597Y ESCA 6 42657384 42657384 + Missense_Mutation SNP A A G TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 g.chr6:42657384A>G c.5102A>G c.(5101-5103)tAt>tGt p.Y1701C GBMLGG 6 42620362 42620362 + Nonsense_Mutation SNP G G A TCGA-S9-A6U6-01A-12D-A33T-08 TCGA-S9-A6U6-10A-01D-A33W-08 g.chr6:42620362G>A c.2748G>A c.(2746-2748)tgG>tgA p.W916* GBMLGG 6 42631096 42631096 + Missense_Mutation SNP T T C TCGA-DU-7011-01A-11D-2024-08 TCGA-DU-7011-10A-01D-2024-08 g.chr6:42631096T>C c.3637T>C c.(3637-3639)Tgt>Cgt p.C1213R HNSC 6 42559958 42559958 + Silent SNP T T C TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr6:42559958T>C c.408T>C c.(406-408)caT>caC p.H136H HNSC 6 42573562 42573562 + Nonsense_Mutation SNP G G T TCGA-IQ-A61E-01A-22D-A30E-08 TCGA-IQ-A61E-10A-01D-A30H-08 g.chr6:42573562G>T c.766G>T c.(766-768)Gaa>Taa p.E256* HNSC 6 42583792 42583792 + Missense_Mutation SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 g.chr6:42583792G>C c.1146G>C c.(1144-1146)ttG>ttC p.L382F HNSC 6 42600362 42600362 + Missense_Mutation SNP C C G TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 g.chr6:42600362C>G c.1354C>G c.(1354-1356)Cga>Gga p.R452G HNSC 6 42603184 42603184 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 g.chr6:42603184G>A c.1574G>A c.(1573-1575)gGa>gAa p.G525E HNSC 6 42604929 42604929 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr6:42604929G>A c.1855G>A c.(1855-1857)Gca>Aca p.A619T HNSC 6 42608004 42608004 + Missense_Mutation SNP C C T TCGA-BB-8601-01A-11D-2394-08 TCGA-BB-8601-10A-01D-2394-08 g.chr6:42608004C>T c.1916C>T c.(1915-1917)cCt>cTt p.P639L HNSC 6 42613293 42613293 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 g.chr6:42613293G>A c.2374G>A c.(2374-2376)Gct>Act p.A792T HNSC 6 42615901 42615901 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr6:42615901C>T c.2455C>T c.(2455-2457)Cat>Tat p.H819Y HNSC 6 42620295 42620295 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chr6:42620295C>T c.2681C>T c.(2680-2682)tCa>tTa p.S894L HNSC 6 42626426 42626426 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr6:42626426G>C c.3106G>C c.(3106-3108)Gag>Cag p.E1036Q HNSC 6 42626464 42626464 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr6:42626464G>C c.3144G>C c.(3142-3144)caG>caC p.Q1048H HNSC 6 42630014 42630014 + Splice_Site SNP A A G TCGA-BA-A4II-01A-11D-A25Y-08 TCGA-BA-A4II-10A-01D-A25Y-08 g.chr6:42630014A>G c.3535A>G c.(3535-3537)Agg>Ggg p.R1179G HNSC 6 42637959 42637959 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 g.chr6:42637959G>T c.4011G>T c.(4009-4011)gcG>gcT p.A1337A HNSC 6 42638408 42638408 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 g.chr6:42638408G>C c.4041G>C c.(4039-4041)ttG>ttC p.L1347F KICH 6 42641562 42641562 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr6:42641562G>A c.4120G>A c.(4120-4122)Gca>Aca p.A1374T KIPAN 6 42541500 42541500 + Missense_Mutation SNP G G A TCGA-A3-3313-01A-01D-0966-08 TCGA-A3-3313-11A-01D-0966-08 g.chr6:42541500G>A c.107G>A c.(106-108)aGa>aAa p.R36K KIPAN 6 42541661 42541661 + Missense_Mutation SNP G G A TCGA-A3-3313-01A-01D-0966-08 TCGA-A3-3313-11A-01D-0966-08 g.chr6:42541661G>A c.268G>A c.(268-270)Gag>Aag p.E90K KIPAN 6 42559909 42559909 + Missense_Mutation SNP C C G TCGA-DZ-6132-01A-11D-1961-08 TCGA-DZ-6132-11A-01D-1961-08 g.chr6:42559909C>G c.359C>G c.(358-360)aCt>aGt p.T120S KIPAN 6 42604791 42604791 + Silent SNP C C T TCGA-CZ-5982-01A-11D-1669-08 TCGA-CZ-5982-11A-01D-1669-08 g.chr6:42604791C>T c.1717C>T c.(1717-1719)Ctg>Ttg p.L573L KIPAN 6 42626515 42626515 + Missense_Mutation SNP G G T TCGA-BP-4161-01A-02D-1386-10 TCGA-BP-4161-11A-01D-1251-10 g.chr6:42626515G>T c.3195G>T c.(3193-3195)caG>caT p.Q1065H KIPAN 6 42637945 42637945 + Missense_Mutation SNP T T A TCGA-CZ-5462-01A-01D-1501-10 TCGA-CZ-5462-11A-01D-1501-10 g.chr6:42637945T>A c.3997T>A c.(3997-3999)Tgg>Agg p.W1333R KIPAN 6 42641562 42641562 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr6:42641562G>A c.4120G>A c.(4120-4122)Gca>Aca p.A1374T KIPAN 6 42657391 42657391 + Silent SNP G G A TCGA-BQ-5891-01A-11D-1589-08 TCGA-BQ-5891-11A-01D-1589-08 g.chr6:42657391G>A c.5109G>A c.(5107-5109)gaG>gaA p.E1703E KIRC 6 42541500 42541500 + Missense_Mutation SNP G G A TCGA-A3-3313-01A-01D-0966-08 TCGA-A3-3313-11A-01D-0966-08 g.chr6:42541500G>A c.107G>A c.(106-108)aGa>aAa p.R36K KIRC 6 42541661 42541661 + Missense_Mutation SNP G G A TCGA-A3-3313-01A-01D-0966-08 TCGA-A3-3313-11A-01D-0966-08 g.chr6:42541661G>A c.268G>A c.(268-270)Gag>Aag p.E90K KIRC 6 42604791 42604791 + Silent SNP C C T TCGA-CZ-5982-01A-11D-1669-08 TCGA-CZ-5982-11A-01D-1669-08 g.chr6:42604791C>T c.1717C>T c.(1717-1719)Ctg>Ttg p.L573L KIRC 6 42626515 42626515 + Missense_Mutation SNP G G T TCGA-BP-4161-01A-02D-1386-10 TCGA-BP-4161-11A-01D-1251-10 g.chr6:42626515G>T c.3195G>T c.(3193-3195)caG>caT p.Q1065H KIRC 6 42637945 42637945 + Missense_Mutation SNP T T A TCGA-CZ-5462-01A-01D-1501-10 TCGA-CZ-5462-11A-01D-1501-10 g.chr6:42637945T>A c.3997T>A c.(3997-3999)Tgg>Agg p.W1333R KIRP 6 42559909 42559909 + Missense_Mutation SNP C C G TCGA-DZ-6132-01A-11D-1961-08 TCGA-DZ-6132-11A-01D-1961-08 g.chr6:42559909C>G c.359C>G c.(358-360)aCt>aGt p.T120S KIRP 6 42657391 42657391 + Silent SNP G G A TCGA-BQ-5891-01A-11D-1589-08 TCGA-BQ-5891-11A-01D-1589-08 g.chr6:42657391G>A c.5109G>A c.(5107-5109)gaG>gaA p.E1703E LGG 6 42620362 42620362 + Nonsense_Mutation SNP G G A TCGA-S9-A6U6-01A-12D-A33T-08 TCGA-S9-A6U6-10A-01D-A33W-08 g.chr6:42620362G>A c.2748G>A c.(2746-2748)tgG>tgA p.W916* LGG 6 42631096 42631096 + Missense_Mutation SNP T T C TCGA-DU-7011-01A-11D-2024-08 TCGA-DU-7011-10A-01D-2024-08 g.chr6:42631096T>C c.3637T>C c.(3637-3639)Tgt>Cgt p.C1213R LIHC 6 42562032 42562032 + Missense_Mutation SNP A A G TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr6:42562032A>G c.521A>G c.(520-522)gAg>gGg p.E174G LIHC 6 42573470 42573470 + Missense_Mutation SNP A A G TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr6:42573470A>G c.674A>G c.(673-675)gAc>gGc p.D225G LIHC 6 42585071 42585071 + Missense_Mutation SNP A A G TCGA-DD-A1EK-01A-11D-A20W-10 TCGA-DD-A1EK-10A-01D-A20W-10 g.chr6:42585071A>G c.1276A>G c.(1276-1278)Act>Gct p.T426A LIHC 6 42610159 42610159 + Nonsense_Mutation SNP T T G TCGA-KR-A7K7-01A-11D-A33K-10 TCGA-KR-A7K7-10A-01D-A33K-10 g.chr6:42610159T>G c.2037T>G c.(2035-2037)taT>taG p.Y679* LIHC 6 42612241 42612241 + Missense_Mutation SNP G G A TCGA-EP-A3RK-01A-11D-A22F-10 TCGA-EP-A3RK-10A-01D-A22F-10 g.chr6:42612241G>A c.2251G>A c.(2251-2253)Gaa>Aaa p.E751K LIHC 6 42619803 42619803 + Missense_Mutation SNP G G C TCGA-DD-A11D-01A-11D-A12Z-10 TCGA-DD-A11D-11A-12D-A12Z-10 g.chr6:42619803G>C c.2608G>C c.(2608-2610)Gat>Cat p.D870H LIHC 6 42620286 42620286 + Frame_Shift_Del DEL T T - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr6:42620286delT c.2672delT c.(2671-2673)attfs p.I891fs LIHC 6 42629942 42629942 + Missense_Mutation SNP A A G TCGA-DD-AACJ-01A-11D-A40R-10 TCGA-DD-AACJ-10A-01D-A40U-10 g.chr6:42629942A>G c.3463A>G c.(3463-3465)Atg>Gtg p.M1155V LIHC 6 42637938 42637938 + Frame_Shift_Del DEL A A - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr6:42637938delA c.3990delA c.(3988-3990)atafs p.I1330fs LIHC 6 42637952 42637952 + Missense_Mutation SNP G G A TCGA-DD-AAVR-01A-11D-A40R-10 TCGA-DD-AAVR-10A-01D-A40U-10 g.chr6:42637952G>A c.4004G>A c.(4003-4005)aGc>aAc p.S1335N LUAD 6 42541585 42541585 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr6:42541585G>T c.192G>T c.(190-192)ctG>ctT p.L64L LUAD 6 42541586 42541586 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr6:42541586G>T c.193G>T c.(193-195)Gca>Tca p.A65S LUAD 6 42541664 42541664 + Missense_Mutation SNP C C G TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 g.chr6:42541664C>G c.271C>G c.(271-273)Caa>Gaa p.Q91E LUAD 6 42561937 42561937 + Silent SNP A A T TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr6:42561937A>T c.426A>T c.(424-426)acA>acT p.T142T LUAD 6 42582899 42582899 + Missense_Mutation SNP A A T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr6:42582899A>T c.1076A>T c.(1075-1077)gAt>gTt p.D359V LUAD 6 42600415 42600415 + Silent SNP C C T TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr6:42600415C>T c.1407C>T c.(1405-1407)ttC>ttT p.F469F LUAD 6 42600433 42600433 + Silent SNP G G A TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr6:42600433G>A c.1425G>A c.(1423-1425)caG>caA p.Q475Q LUAD 6 42600601 42600601 + Nonsense_Mutation SNP G G T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 g.chr6:42600601G>T c.1504G>T c.(1504-1506)Gaa>Taa p.E502* LUAD 6 42604830 42604830 + Missense_Mutation SNP C C T TCGA-80-5611-01A-01D-1625-08 TCGA-80-5611-10A-01D-1625-08 g.chr6:42604830C>T c.1756C>T c.(1756-1758)Cca>Tca p.P586S LUAD 6 42611955 42611955 + Missense_Mutation SNP G G C TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chr6:42611955G>C c.2101G>C c.(2101-2103)Ggt>Cgt p.G701R LUAD 6 42612262 42612262 + Missense_Mutation SNP A A G TCGA-44-6144-01A-11D-1753-08 TCGA-44-6144-10A-01D-1753-08 g.chr6:42612262A>G c.2272A>G c.(2272-2274)Ata>Gta p.I758V LUAD 6 42613255 42613255 + Missense_Mutation SNP A A G TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr6:42613255A>G c.2336A>G c.(2335-2337)aAg>aGg p.K779R LUAD 6 42615858 42615858 + Silent SNP G G A TCGA-44-7660-01A-11D-2063-08 TCGA-44-7660-10A-01D-2063-08 g.chr6:42615858G>A c.2412G>A c.(2410-2412)gaG>gaA p.E804E LUAD 6 42619760 42619760 + Splice_Site SNP G G A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 g.chr6:42619760G>A c.e24-1 LUAD 6 42625764 42625764 + Missense_Mutation SNP C C T TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr6:42625764C>T c.2875C>T c.(2875-2877)Cct>Tct p.P959S LUAD 6 42626404 42626404 + Missense_Mutation SNP A A C TCGA-75-5125-01A-01D-1753-08 TCGA-75-5125-10A-01D-1753-08 g.chr6:42626404A>C c.3084A>C c.(3082-3084)aaA>aaC p.K1028N LUAD 6 42626495 42626495 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 g.chr6:42626495G>A c.3175G>A c.(3175-3177)Gaa>Aaa p.E1059K LUAD 6 42627405 42627405 + Nonsense_Mutation SNP C C G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 g.chr6:42627405C>G c.3254C>G c.(3253-3255)tCa>tGa p.S1085* LUAD 6 42633948 42633948 + Missense_Mutation SNP G G T TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr6:42633948G>T c.3846G>T c.(3844-3846)caG>caT p.Q1282H LUAD 6 42644556 42644556 + Nonsense_Mutation SNP G G T TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr6:42644556G>T c.4423G>T c.(4423-4425)Gaa>Taa p.E1475* LUAD 6 42650816 42650816 + Missense_Mutation SNP A A T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr6:42650816A>T c.4742A>T c.(4741-4743)aAa>aTa p.K1581I LUAD 6 42656060 42656060 + Missense_Mutation SNP G G A TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr6:42656060G>A c.4960G>A c.(4960-4962)Gag>Aag p.E1654K LUSC 6 42603165 42603165 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr6:42603165C>T c.1555C>T c.(1555-1557)Cca>Tca p.P519S LUSC 6 42603239 42603239 + Silent SNP A A G TCGA-66-2754-01A-01D-0983-08 TCGA-66-2754-11A-01D-0983-08 g.chr6:42603239A>G c.1629A>G c.(1627-1629)aaA>aaG p.K543K LUSC 6 42613251 42613251 + Missense_Mutation SNP A A G TCGA-60-2713-01A-01D-1522-08 TCGA-60-2713-11A-01D-1522-08 g.chr6:42613251A>G c.2332A>G c.(2332-2334)Atc>Gtc p.I778V LUSC 6 42625796 42625796 + Missense_Mutation SNP A A G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 g.chr6:42625796A>G c.2907A>G c.(2905-2907)atA>atG p.I969M LUSC 6 42631065 42631065 + Silent SNP T T C TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 g.chr6:42631065T>C c.3606T>C c.(3604-3606)gaT>gaC p.D1202D LUSC 6 42641542 42641542 + Missense_Mutation SNP G G T TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 g.chr6:42641542G>T c.4100G>T c.(4099-4101)aGg>aTg p.R1367M LUSC 6 42643823 42643823 + Missense_Mutation SNP G G T TCGA-18-4721-01A-01D-1441-08 TCGA-18-4721-11A-01D-1441-08 g.chr6:42643823G>T c.4281G>T c.(4279-4281)ttG>ttT p.L1427F OV 6 42541550 42541550 + Missense_Mutation SNP G G A TCGA-23-2645-01A-01W-1091-09 TCGA-23-2645-10A-01W-1091-09 g.chr6:42541550G>A c.157G>A c.(157-159)Ggt>Agt p.G53S OV 6 42573531 42573531 + Silent SNP T T C TCGA-13-1509-01A-01W-0549-09 TCGA-13-1509-10A-01W-0550-09 g.chr6:42573531T>C c.735T>C c.(733-735)acT>acC p.T245T OV 6 42623407 42623407 + Missense_Mutation SNP G G C TCGA-13-1492-01A-01D-0472-08 TCGA-13-1492-10A-01W-0545-08 g.chr6:42623407G>C c.2818G>C c.(2818-2820)Gag>Cag p.E940Q OV 6 42650839 42650839 + Missense_Mutation SNP G G T TCGA-24-2254-01A-01W-0722-08 TCGA-24-2254-10A-01W-0722-08 g.chr6:42650839G>T c.4765G>T c.(4765-4767)Gat>Tat p.D1589Y PAAD 6 42571440 42571440 + Missense_Mutation SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 g.chr6:42571440G>A c.646G>A c.(646-648)Gca>Aca p.A216T PAAD 6 42613320 42613320 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:42613320C>T c.2401C>T c.(2401-2403)Cct>Tct p.P801S PAAD 6 42620364 42620364 + Missense_Mutation SNP C C T TCGA-F2-A7TX-01A-33D-A38G-08 TCGA-F2-A7TX-10B-01D-A38J-08 g.chr6:42620364C>T c.2750C>T c.(2749-2751)tCa>tTa p.S917L PAAD 6 42652582 42652582 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:42652582G>A c.4826G>A c.(4825-4827)aGc>aAc p.S1609N PAAD 6 42656018 42656018 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:42656018C>A c.4918C>A c.(4918-4920)Ctg>Atg p.L1640M PAAD 6 42656112 42656112 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 g.chr6:42656112G>A c.5012G>A c.(5011-5013)gGc>gAc p.G1671D PAAD 6 42658801 42658801 + Nonsense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:42658801C>T c.5158C>T c.(5158-5160)Cga>Tga p.R1720* PRAD 6 42600572 42600572 + Nonsense_Mutation SNP G G A TCGA-V1-A9Z8-01A-11D-A41K-08 TCGA-V1-A9Z8-10A-01D-A41N-08 g.chr6:42600572G>A c.1475G>A c.(1474-1476)tGg>tAg p.W492* PRAD 6 42609419 42609427 + In_Frame_Del DEL CTAGTAAAC CTAGTAAAC - TCGA-G9-6365-01A-11D-1786-08 TCGA-G9-6365-10A-01D-1786-08 g.chr6:42609419_42609427delCTAGTAAAC c.2020_2028delCTAGTAAAC c.(2020-2028)ctagtaaacdel p.LVN674del PRAD 6 42620325 42620325 + Missense_Mutation SNP T T G TCGA-KK-A7B0-01A-11D-A32B-08 TCGA-KK-A7B0-11A-11D-A329-08 g.chr6:42620325T>G c.2711T>G c.(2710-2712)aTt>aGt p.I904S PRAD 6 42657359 42657359 + Missense_Mutation SNP T T G TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 g.chr6:42657359T>G c.5077T>G c.(5077-5079)Tat>Gat p.Y1693D READ 6 42571414 42571414 + Missense_Mutation SNP C C T TCGA-AF-2691-01A-01W-0831-10 TCGA-AF-2691-10A-01W-0831-10 g.chr6:42571414C>T c.620C>T c.(619-621)aCc>aTc p.T207I READ 6 42574351 42574351 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:42574351G>T c.826G>T c.(826-828)Gat>Tat p.D276Y READ 6 42600420 42600420 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:42600420T>G c.1412T>G c.(1411-1413)tTt>tGt p.F471C READ 6 42612253 42612253 + Missense_Mutation SNP T T C TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr6:42612253T>C c.2263T>C c.(2263-2265)Tac>Cac p.Y755H READ 6 42647492 42647492 + Missense_Mutation SNP G G C TCGA-F5-6813-01A-11D-1826-10 TCGA-F5-6813-10A-01D-1826-10 g.chr6:42647492G>C c.4640G>C c.(4639-4641)tGt>tCt p.C1547S READ 6 42658815 42658815 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:42658815T>G c.5172T>G c.(5170-5172)atT>atG p.I1724M SARC 6 42583771 42583771 + Missense_Mutation SNP G G A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 g.chr6:42583771G>A c.1125G>A c.(1123-1125)atG>atA p.M375I SARC 6 42583801 42583801 + Silent SNP G G A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 g.chr6:42583801G>A c.1155G>A c.(1153-1155)aaG>aaA p.K385K SARC 6 42583818 42583818 + Missense_Mutation SNP G G A TCGA-3B-A9HL-01A-11D-A387-09 TCGA-3B-A9HL-10A-01D-A38A-09 g.chr6:42583818G>A c.1172G>A c.(1171-1173)cGa>cAa p.R391Q SKCM 6 42561953 42561953 + Missense_Mutation SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr6:42561953T>G c.442T>G c.(442-444)Ttc>Gtc p.F148V SKCM 6 42571329 42571329 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr6:42571329C>T c.535C>T c.(535-537)Cct>Tct p.P179S SKCM 6 42573596 42573596 + Splice_Site SNP A A G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr6:42573596A>G c.800A>G c.(799-801)gAt>gGt p.D267G SKCM 6 42582840 42582840 + Silent SNP T T C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr6:42582840T>C c.1017T>C c.(1015-1017)ggT>ggC p.G339G SKCM 6 42585058 42585058 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 g.chr6:42585058C>T c.1263C>T c.(1261-1263)ttC>ttT p.F421F SKCM 6 42603282 42603282 + Missense_Mutation SNP G G T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 g.chr6:42603282G>T c.1672G>T c.(1672-1674)Gat>Tat p.D558Y SKCM 6 42613219 42613219 + Missense_Mutation SNP C C T TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 g.chr6:42613219C>T c.2300C>T c.(2299-2301)cCt>cTt p.P767L SKCM 6 42613322 42613322 + Silent SNP T T G TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr6:42613322T>G c.2403T>G c.(2401-2403)ccT>ccG p.P801P SKCM 6 42615888 42615888 + Silent SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr6:42615888C>T c.2442C>T c.(2440-2442)atC>atT p.I814I SKCM 6 42625842 42625842 + Missense_Mutation SNP C C T TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 g.chr6:42625842C>T c.2953C>T c.(2953-2955)Cac>Tac p.H985Y SKCM 6 42627584 42627584 + Nonsense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr6:42627584C>T c.3433C>T c.(3433-3435)Caa>Taa p.Q1145* SKCM 6 42631091 42631091 + Missense_Mutation SNP C C T TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr6:42631091C>T c.3632C>T c.(3631-3633)cCc>cTc p.P1211L SKCM 6 42633953 42633953 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 g.chr6:42633953C>T c.3851C>T c.(3850-3852)cCt>cTt p.P1284L SKCM 6 42637833 42637833 + Silent SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr6:42637833C>T c.3885C>T c.(3883-3885)atC>atT p.I1295I SKCM 6 42637845 42637845 + Silent SNP G G A TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr6:42637845G>A c.3897G>A c.(3895-3897)gaG>gaA p.E1299E SKCM 6 42643851 42643851 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr6:42643851C>T c.4309C>T c.(4309-4311)Ctt>Ttt p.L1437F SKCM 6 42643911 42643911 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr6:42643911T>C c.4369T>C c.(4369-4371)Tta>Cta p.L1457L SKCM 6 42647465 42647465 + Missense_Mutation SNP C C T TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr6:42647465C>T c.4613C>T c.(4612-4614)cCt>cTt p.P1538L SKCM 6 42656026 42656026 + Silent SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 g.chr6:42656026C>T c.4926C>T c.(4924-4926)tcC>tcT p.S1642S SKCM 6 42656027 42656027 + Nonsense_Mutation SNP C C T TCGA-ER-A19Q-06A-11D-A197-08 TCGA-ER-A19Q-10A-01D-A199-08 g.chr6:42656027C>T c.4927C>T c.(4927-4929)Cag>Tag p.Q1643* SKCM 6 42656116 42656116 + Silent SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr6:42656116C>T c.5016C>T c.(5014-5016)atC>atT p.I1672I SKCM 6 42657358 42657358 + Missense_Mutation SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr6:42657358T>G c.5076T>G c.(5074-5076)ttT>ttG p.F1692L

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 6 42603207 42603207 single base substitution G C missense_variant E37Q 109G>C BLCA-CN 6 42603207 42603207 single base substitution G C missense_variant E533Q 1597G>C BLCA-US 6 42532121 42532121 single base substitution G T stop_gained E22* 64G>T BLCA-US 6 42625826 42625826 single base substitution T G synonymous_variant A483A 1449T>G BLCA-US 6 42625826 42625826 single base substitution T G synonymous_variant A979A 2937T>G BLCA-US 6 42626436 42626436 single base substitution G A missense_variant D547N 1639G>A BLCA-US 6 42626436 42626436 single base substitution G A missense_variant R1039K 3116G>A BLCA-US 6 42655960 42655960 single base substitution G A 3_prime_UTR_variant BLCA-US 6 42655960 42655960 single base substitution G A synonymous_variant P1620P 4860G>A BOCA-UK 6 42637969 42637969 single base substitution C T 3_prime_UTR_variant BOCA-UK 6 42637969 42637969 single base substitution C T stop_gained Q1341* 4021C>T BRCA-EU 6 42527806 42527806 single base substitution G C upstream_gene_variant BRCA-EU 6 42531523 42531523 single base substitution C A upstream_gene_variant BRCA-EU 6 42532696 42532696 single base substitution G C intron_variant BRCA-EU 6 42533161 42533161 single base substitution T G intron_variant BRCA-EU 6 42533235 42533235 single base substitution G A intron_variant BRCA-EU 6 42536215 42536215 single base substitution T C intron_variant BRCA-EU 6 42536328 42536328 single base substitution C T intron_variant BRCA-EU 6 42536424 42536424 single base substitution C T intron_variant BRCA-EU 6 42537303 42537303 single base substitution A G intron_variant BRCA-EU 6 42538456 42538456 single base substitution C A intron_variant BRCA-EU 6 42538824 42538824 single base substitution A G intron_variant BRCA-EU 6 42539339 42539339 single base substitution C T intron_variant BRCA-EU 6 42539546 42539546 single base substitution G A intron_variant BRCA-EU 6 42540592 42540592 single base substitution G A intron_variant BRCA-EU 6 42540947 42540947 single base substitution C G intron_variant BRCA-EU 6 42541435 42541435 single base substitution T C intron_variant BRCA-EU 6 42542043 42542043 single base substitution C G intron_variant BRCA-EU 6 42542558 42542558 single base substitution C A intron_variant BRCA-EU 6 42544398 42544398 single base substitution G C intron_variant BRCA-EU 6 42545027 42545027 single base substitution A G intron_variant BRCA-EU 6 42545251 42545251 single base substitution T A intron_variant BRCA-EU 6 42545322 42545322 single base substitution A G intron_variant BRCA-EU 6 42545422 42545422 single base substitution C G intron_variant BRCA-EU 6 42545711 42545711 single base substitution T C intron_variant BRCA-EU 6 42545724 42545724 single base substitution C T intron_variant BRCA-EU 6 42545725 42545725 single base substitution A G intron_variant BRCA-EU 6 42546527 42546527 single base substitution C G intron_variant BRCA-EU 6 42547691 42547691 single base substitution A G intron_variant BRCA-EU 6 42548260 42548260 single base substitution G A intron_variant BRCA-EU 6 42552002 42552002 single base substitution G T intron_variant BRCA-EU 6 42552227 42552227 single base substitution T A intron_variant BRCA-EU 6 42552315 42552315 single base substitution A G intron_variant BRCA-EU 6 42554590 42554590 single base substitution C T intron_variant BRCA-EU 6 42554716 42554716 single base substitution C A intron_variant BRCA-EU 6 42556501 42556501 single base substitution A G intron_variant BRCA-EU 6 42556890 42556890 single base substitution G T intron_variant BRCA-EU 6 42556989 42556989 single base substitution G C intron_variant BRCA-EU 6 42557014 42557014 single base substitution C G intron_variant BRCA-EU 6 42557884 42557884 single base substitution A G intron_variant BRCA-EU 6 42558385 42558385 single base substitution C A intron_variant BRCA-EU 6 42558461 42558461 single base substitution A G intron_variant BRCA-EU 6 42559226 42559226 single base substitution A C intron_variant BRCA-EU 6 42559660 42559660 single base substitution T G intron_variant BRCA-EU 6 42561523 42561523 single base substitution A G intron_variant BRCA-EU 6 42563938 42563938 single base substitution G C intron_variant BRCA-EU 6 42565131 42565131 single base substitution C G intron_variant BRCA-EU 6 42565610 42565610 single base substitution C T intron_variant BRCA-EU 6 42566686 42566686 single base substitution T A intron_variant BRCA-EU 6 42567086 42567086 single base substitution T G intron_variant BRCA-EU 6 42567351 42567351 single base substitution T G intron_variant BRCA-EU 6 42569311 42569311 single base substitution A T intron_variant BRCA-EU 6 42569699 42569699 single base substitution C A intron_variant BRCA-EU 6 42569803 42569803 single base substitution C A intron_variant BRCA-EU 6 42570302 42570302 single base substitution G T intron_variant BRCA-EU 6 42572944 42572944 single base substitution C G intron_variant BRCA-EU 6 42573672 42573672 single base substitution G C intron_variant BRCA-EU 6 42576153 42576153 single base substitution C T intron_variant BRCA-EU 6 42577012 42577012 deletion of <=200bp T - intron_variant BRCA-EU 6 42577116 42577116 deletion of <=200bp A - intron_variant BRCA-EU 6 42577586 42577586 single base substitution T C intron_variant BRCA-EU 6 42578677 42578677 single base substitution A G intron_variant BRCA-EU 6 42579005 42579005 single base substitution C G intron_variant BRCA-EU 6 42579416 42579416 single base substitution G A intron_variant BRCA-EU 6 42579855 42579855 single base substitution G C intron_variant BRCA-EU 6 42579855 42579855 single base substitution G C upstream_gene_variant BRCA-EU 6 42579963 42579963 single base substitution A G missense_variant I307V 919A>G BRCA-EU 6 42579963 42579963 single base substitution A G upstream_gene_variant BRCA-EU 6 42580259 42580259 single base substitution C T intron_variant BRCA-EU 6 42580259 42580259 single base substitution C T upstream_gene_variant BRCA-EU 6 42580501 42580501 single base substitution C G intron_variant BRCA-EU 6 42580501 42580501 single base substitution C G upstream_gene_variant BRCA-EU 6 42580540 42580540 single base substitution G A intron_variant BRCA-EU 6 42580540 42580540 single base substitution G A upstream_gene_variant BRCA-EU 6 42580619 42580619 single base substitution A G intron_variant BRCA-EU 6 42580619 42580619 single base substitution A G upstream_gene_variant BRCA-EU 6 42581257 42581257 single base substitution C T intron_variant BRCA-EU 6 42581257 42581257 single base substitution C T upstream_gene_variant BRCA-EU 6 42581736 42581736 single base substitution G C intron_variant BRCA-EU 6 42581736 42581736 single base substitution G C upstream_gene_variant BRCA-EU 6 42582494 42582494 single base substitution C A intron_variant BRCA-EU 6 42582494 42582494 single base substitution C A upstream_gene_variant BRCA-EU 6 42582707 42582707 single base substitution A G intron_variant BRCA-EU 6 42582707 42582707 single base substitution A G upstream_gene_variant BRCA-EU 6 42584228 42584228 deletion of <=200bp A - intron_variant BRCA-EU 6 42584228 42584228 deletion of <=200bp A - upstream_gene_variant BRCA-EU 6 42584345 42584345 single base substitution C A intron_variant BRCA-EU 6 42584345 42584345 single base substitution C A upstream_gene_variant BRCA-EU 6 42584411 42584411 single base substitution G A intron_variant BRCA-EU 6 42584411 42584411 single base substitution G A upstream_gene_variant BRCA-EU 6 42585282 42585282 single base substitution C G intron_variant BRCA-EU 6 42585809 42585809 single base substitution G T intron_variant BRCA-EU 6 42585923 42585923 single base substitution G C intron_variant BRCA-EU 6 42586924 42586924 single base substitution G A intron_variant BRCA-EU 6 42589836 42589836 single base substitution C G downstream_gene_variant BRCA-EU 6 42589836 42589836 single base substitution C G intron_variant BRCA-EU 6 42592319 42592319 single base substitution G A downstream_gene_variant BRCA-EU 6 42592319 42592319 single base substitution G A intron_variant BRCA-EU 6 42593834 42593834 single base substitution G A intron_variant BRCA-EU 6 42595154 42595154 single base substitution G C intron_variant BRCA-EU 6 42596022 42596024 deletion of <=200bp AAC - intron_variant BRCA-EU 6 42596317 42596317 single base substitution T C intron_variant BRCA-EU 6 42597076 42597076 single base substitution A G intron_variant BRCA-EU 6 42597392 42597392 single base substitution C G intron_variant BRCA-EU 6 42598630 42598630 single base substitution G C intron_variant BRCA-EU 6 42600224 42600224 deletion of <=200bp T - intron_variant BRCA-EU 6 42600431 42600431 single base substitution C T 5_prime_UTR_variant BRCA-EU 6 42600431 42600431 single base substitution C T stop_gained Q475* 1423C>T BRCA-EU 6 42600494 42600494 single base substitution G C intron_variant BRCA-EU 6 42601064 42601064 single base substitution C T intron_variant BRCA-EU 6 42601123 42601123 insertion of <=200bp - T intron_variant BRCA-EU 6 42601167 42601167 single base substitution C G intron_variant BRCA-EU 6 42601246 42601246 single base substitution A G intron_variant BRCA-EU 6 42602624 42602624 single base substitution C T intron_variant BRCA-EU 6 42603174 42603174 single base substitution C T missense_variant R26C 76C>T BRCA-EU 6 42603174 42603174 single base substitution C T missense_variant R522C 1564C>T BRCA-EU 6 42603567 42603567 single base substitution A G intron_variant BRCA-EU 6 42605182 42605182 single base substitution G A intron_variant BRCA-EU 6 42605319 42605319 single base substitution C G intron_variant BRCA-EU 6 42605421 42605421 single base substitution C T intron_variant BRCA-EU 6 42605542 42605542 single base substitution G C intron_variant BRCA-EU 6 42606320 42606320 single base substitution A T intron_variant BRCA-EU 6 42606387 42606410 deletion of <=200bp TGGCATGGTGTTGTGGAAAAGTAT - intron_variant BRCA-EU 6 42607510 42607510 single base substitution G C intron_variant BRCA-EU 6 42607714 42607733 deletion of <=200bp CAAGATCGCGCCACTGCACT - intron_variant BRCA-EU 6 42608189 42608189 single base substitution G T intron_variant BRCA-EU 6 42608463 42608463 insertion of <=200bp - T intron_variant BRCA-EU 6 42608882 42608882 single base substitution A G intron_variant BRCA-EU 6 42610217 42610217 single base substitution C T stop_gained Q203* 607C>T BRCA-EU 6 42610217 42610217 single base substitution C T stop_gained Q699* 2095C>T BRCA-EU 6 42614423 42614435 deletion of <=200bp ATATCTGATCTGA - intron_variant BRCA-EU 6 42615058 42615058 single base substitution G T intron_variant BRCA-EU 6 42615797 42615797 single base substitution T C intron_variant BRCA-EU 6 42616728 42616728 single base substitution A G intron_variant BRCA-EU 6 42618728 42618728 single base substitution G C intron_variant BRCA-EU 6 42619666 42619666 single base substitution A G intron_variant BRCA-EU 6 42620926 42620926 single base substitution G A intron_variant BRCA-EU 6 42622019 42622019 single base substitution T C intron_variant BRCA-EU 6 42622062 42622062 single base substitution C T intron_variant BRCA-EU 6 42624806 42624806 single base substitution C G intron_variant BRCA-EU 6 42625552 42625552 single base substitution C G intron_variant BRCA-EU 6 42627159 42627159 single base substitution A G intron_variant BRCA-EU 6 42628647 42628647 single base substitution G A intron_variant BRCA-EU 6 42629383 42629383 deletion of <=200bp C - intron_variant BRCA-EU 6 42629383 42629383 single base substitution C T intron_variant BRCA-EU 6 42629476 42629476 single base substitution C T intron_variant BRCA-EU 6 42629812 42629812 single base substitution T C intron_variant BRCA-EU 6 42630588 42630588 single base substitution G A intron_variant BRCA-EU 6 42632035 42632035 deletion of <=200bp A - intron_variant BRCA-EU 6 42632345 42632345 deletion of <=200bp A - intron_variant BRCA-EU 6 42633000 42633000 deletion of <=200bp T - intron_variant BRCA-EU 6 42633654 42633654 single base substitution C G intron_variant BRCA-EU 6 42633970 42633970 single base substitution G A 3_prime_UTR_variant BRCA-EU 6 42633970 42633970 single base substitution G A missense_variant D1290N 3868G>A BRCA-EU 6 42634262 42634262 single base substitution G C intron_variant BRCA-EU 6 42634895 42634895 deletion of <=200bp G - intron_variant BRCA-EU 6 42635735 42635735 single base substitution G A intron_variant BRCA-EU 6 42636412 42636412 single base substitution T G intron_variant BRCA-EU 6 42637234 42637234 insertion of <=200bp - T intron_variant BRCA-EU 6 42638318 42638318 deletion of <=200bp T - intron_variant BRCA-EU 6 42641977 42641977 single base substitution A C intron_variant BRCA-EU 6 42642918 42642918 single base substitution C G intron_variant BRCA-EU 6 42645373 42645373 single base substitution C T intron_variant BRCA-EU 6 42645510 42645510 single base substitution A G intron_variant BRCA-EU 6 42645731 42645731 single base substitution G C intron_variant BRCA-EU 6 42646386 42646386 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 42646386 42646386 single base substitution C T missense_variant P1530S 4588C>T BRCA-EU 6 42647373 42647373 deletion of <=200bp T - intron_variant BRCA-EU 6 42648231 42648231 single base substitution G C intron_variant BRCA-EU 6 42648265 42648265 single base substitution C G intron_variant BRCA-EU 6 42650179 42650181 deletion of <=200bp ATT - intron_variant BRCA-EU 6 42650792 42650792 single base substitution G T splice_acceptor_variant BRCA-EU 6 42651133 42651133 single base substitution C T intron_variant BRCA-EU 6 42653396 42653396 single base substitution C T intron_variant BRCA-EU 6 42657175 42657175 deletion of <=200bp T - intron_variant BRCA-EU 6 42658151 42658151 single base substitution G C intron_variant BRCA-EU 6 42658381 42658381 deletion of <=200bp T - intron_variant BRCA-EU 6 42663247 42663247 single base substitution C A downstream_gene_variant BRCA-EU 6 42664628 42664628 single base substitution C T downstream_gene_variant BRCA-FR 6 42544014 42544014 single base substitution G A intron_variant BRCA-FR 6 42557014 42557014 single base substitution C G intron_variant BRCA-FR 6 42560986 42560986 single base substitution C T intron_variant BRCA-FR 6 42563938 42563938 single base substitution G C intron_variant BRCA-FR 6 42570302 42570302 single base substitution G T intron_variant BRCA-FR 6 42573672 42573672 single base substitution G C intron_variant BRCA-FR 6 42581736 42581736 single base substitution G C intron_variant BRCA-FR 6 42581736 42581736 single base substitution G C upstream_gene_variant BRCA-FR 6 42585282 42585282 single base substitution C G intron_variant BRCA-FR 6 42592319 42592319 single base substitution G A downstream_gene_variant BRCA-FR 6 42592319 42592319 single base substitution G A intron_variant BRCA-FR 6 42593834 42593834 single base substitution G A intron_variant BRCA-FR 6 42597392 42597392 single base substitution C G intron_variant BRCA-FR 6 42601064 42601064 single base substitution C T intron_variant BRCA-FR 6 42603174 42603174 single base substitution C T missense_variant R26C 76C>T BRCA-FR 6 42603174 42603174 single base substitution C T missense_variant R522C 1564C>T BRCA-FR 6 42605319 42605319 single base substitution C G intron_variant BRCA-FR 6 42622062 42622062 single base substitution C T intron_variant BRCA-FR 6 42624806 42624806 single base substitution C G intron_variant BRCA-FR 6 42633654 42633654 single base substitution C G intron_variant BRCA-FR 6 42637128 42637128 single base substitution T G intron_variant BRCA-KR 6 42647400 42647400 single base substitution A G intron_variant BRCA-UK 6 42533161 42533161 single base substitution T G intron_variant BRCA-UK 6 42554716 42554716 single base substitution C A intron_variant BRCA-UK 6 42572169 42572169 single base substitution C T intron_variant BRCA-UK 6 42572657 42572657 single base substitution C T intron_variant BRCA-UK 6 42585923 42585923 single base substitution G C intron_variant BRCA-US 6 42532065 42532065 single base substitution C G missense_variant S3W 8C>G BRCA-US 6 42571368 42571368 single base substitution T C missense_variant Y192H 574T>C BRCA-US 6 42585064 42585064 single base substitution C T intron_variant BRCA-US 6 42585064 42585064 single base substitution C T synonymous_variant T423T 1269C>T BRCA-US 6 42585066 42585066 single base substitution C T intron_variant BRCA-US 6 42585066 42585066 single base substitution C T missense_variant A424V 1271C>T BRCA-US 6 42612058 42612058 single base substitution C T missense_variant S239F 716C>T BRCA-US 6 42612058 42612058 single base substitution C T missense_variant S735F 2204C>T BRCA-US 6 42612060 42612060 single base substitution G A missense_variant E240K 718G>A BRCA-US 6 42612060 42612060 single base substitution G A missense_variant E736K 2206G>A BRCA-US 6 42620364 42620364 single base substitution C T missense_variant S421L 1262C>T BRCA-US 6 42620364 42620364 single base substitution C T missense_variant S917L 2750C>T BRCA-US 6 42626013 42626013 single base substitution A C synonymous_variant S1006S 3018A>C BRCA-US 6 42626013 42626013 single base substitution A C synonymous_variant S510S 1530A>C BRCA-US 6 42626034 42626034 single base substitution G C missense_variant E1013D 3039G>C BRCA-US 6 42626034 42626034 single base substitution G C missense_variant E517D 1551G>C BRCA-US 6 42627561 42627561 insertion of <=200bp - A 3_prime_UTR_variant BRCA-US 6 42627561 42627561 insertion of <=200bp - A frameshift_variant S1137Y? BRCA-US 6 42629951 42629951 single base substitution G A 3_prime_UTR_variant BRCA-US 6 42629951 42629951 single base substitution G A missense_variant D1158N 3472G>A BRCA-US 6 42641867 42641867 single base substitution T C 3_prime_UTR_variant BRCA-US 6 42641867 42641867 single base substitution T C missense_variant L1396P 4187T>C BRCA-US 6 42644559 42644559 single base substitution G T 3_prime_UTR_variant BRCA-US 6 42644559 42644559 single base substitution G T stop_gained E1476* 4426G>T BRCA-US 6 42644577 42644577 single base substitution G T 3_prime_UTR_variant BRCA-US 6 42644577 42644577 single base substitution G T missense_variant A1482S 4444G>T BRCA-US 6 42652568 42652568 single base substitution A G 3_prime_UTR_variant BRCA-US 6 42652568 42652568 single base substitution A G synonymous_variant P1604P 4812A>G BRCA-US 6 42657406 42657406 single base substitution C T splice_region_variant BTCA-JP 6 42573360 42573360 single base substitution C T intron_variant BTCA-JP 6 42603300 42603300 single base substitution G T intron_variant BTCA-JP 6 42603310 42603310 single base substitution T G intron_variant BTCA-JP 6 42609296 42609296 insertion of <=200bp - T intron_variant BTCA-JP 6 42610142 42610142 deletion of <=200bp T - intron_variant BTCA-JP 6 42625964 42625964 deletion of <=200bp T - intron_variant BTCA-JP 6 42626451 42626451 single base substitution A C missense_variant K1044T 3131A>C BTCA-JP 6 42626451 42626451 single base substitution A C synonymous_variant R552R 1654A>C BTCA-JP 6 42643777 42643777 single base substitution C A intron_variant BTCA-JP 6 42647474 42647474 single base substitution G A 3_prime_UTR_variant BTCA-JP 6 42647474 42647474 single base substitution G A missense_variant S1541N 4622G>A BTCA-JP 6 42652441 42652441 single base substitution G A intron_variant CESC-US 6 42600322 42600322 single base substitution G A 5_prime_UTR_variant CESC-US 6 42600322 42600322 single base substitution G A missense_variant M438I 1314G>A CESC-US 6 42600337 42600337 single base substitution G A 5_prime_UTR_variant CESC-US 6 42600337 42600337 single base substitution G A synonymous_variant K443K 1329G>A CESC-US 6 42626564 42626564 insertion of <=200bp - A splice_donor_variant CESC-US 6 42646299 42646299 single base substitution G A 3_prime_UTR_variant CESC-US 6 42646299 42646299 single base substitution G A missense_variant G1501S 4501G>A CESC-US 6 42655973 42655973 single base substitution G C 3_prime_UTR_variant CESC-US 6 42655973 42655973 single base substitution G C missense_variant D1625H 4873G>C CESC-US 6 42657395 42657395 single base substitution G A 3_prime_UTR_variant CESC-US 6 42657395 42657395 single base substitution G A missense_variant D1705N 5113G>A CLLE-ES 6 42532208 42532208 single base substitution A G intron_variant CLLE-ES 6 42563347 42563347 single base substitution G A intron_variant CLLE-ES 6 42650562 42650562 single base substitution A C intron_variant CLLE-ES 6 42662635 42662635 single base substitution G A downstream_gene_variant CLLE-ES 6 42665071 42665071 single base substitution C T downstream_gene_variant COAD-US 6 42532102 42532102 single base substitution C T synonymous_variant S15S 45C>T COAD-US 6 42559926 42559926 single base substitution G A missense_variant E126K 376G>A COAD-US 6 42559960 42559960 single base substitution G A missense_variant R137Q 410G>A COAD-US 6 42571346 42571346 single base substitution A T synonymous_variant S184S 552A>T COAD-US 6 42573513 42573513 single base substitution T C synonymous_variant Y239Y 717T>C COAD-US 6 42585022 42585022 single base substitution G A intron_variant COAD-US 6 42585022 42585022 single base substitution G A synonymous_variant E409E 1227G>A COAD-US 6 42609391 42609391 single base substitution C T synonymous_variant A168A 504C>T COAD-US 6 42609391 42609391 single base substitution C T synonymous_variant A664A 1992C>T COAD-US 6 42620257 42620257 single base substitution C A missense_variant F385L 1155C>A COAD-US 6 42620257 42620257 single base substitution C A missense_variant F881L 2643C>A COAD-US 6 42626565 42626569 deletion of <=200bp AAAAA - splice_region_variant COAD-US 6 42626565 42626571 deletion of <=200bp AAAAAAA - splice_region_variant COAD-US 6 42627430 42627430 single base substitution C T 3_prime_UTR_variant COAD-US 6 42627430 42627430 single base substitution C T synonymous_variant G1093G 3279C>T COAD-US 6 42627434 42627434 single base substitution G A 3_prime_UTR_variant COAD-US 6 42627434 42627434 single base substitution G A missense_variant A1095T 3283G>A COAD-US 6 42652542 42652542 single base substitution G A 3_prime_UTR_variant COAD-US 6 42652542 42652542 single base substitution G A missense_variant E1596K 4786G>A COCA-CN 6 42527622 42527622 single base substitution A C upstream_gene_variant COCA-CN 6 42532062 42532062 single base substitution C A missense_variant A2E 5C>A COCA-CN 6 42541528 42541528 single base substitution T C synonymous_variant Y45Y 135T>C COCA-CN 6 42541611 42541611 single base substitution T C missense_variant M73T 218T>C COCA-CN 6 42545546 42545546 single base substitution T C intron_variant COCA-CN 6 42546712 42546712 single base substitution C A intron_variant COCA-CN 6 42546716 42546716 single base substitution C A intron_variant COCA-CN 6 42558547 42558547 single base substitution G A intron_variant COCA-CN 6 42562044 42562044 single base substitution T C splice_donor_variant COCA-CN 6 42564370 42564370 single base substitution A G intron_variant COCA-CN 6 42568248 42568248 single base substitution T C intron_variant COCA-CN 6 42569620 42569620 single base substitution T A intron_variant COCA-CN 6 42574317 42574317 single base substitution A G intron_variant COCA-CN 6 42581978 42581978 single base substitution A C intron_variant COCA-CN 6 42581978 42581978 single base substitution A C upstream_gene_variant COCA-CN 6 42582177 42582177 single base substitution C T intron_variant COCA-CN 6 42582177 42582177 single base substitution C T upstream_gene_variant COCA-CN 6 42582189 42582189 single base substitution T C intron_variant COCA-CN 6 42582189 42582189 single base substitution T C upstream_gene_variant COCA-CN 6 42582817 42582817 single base substitution C T missense_variant R332C 994C>T COCA-CN 6 42582817 42582817 single base substitution C T upstream_gene_variant COCA-CN 6 42584939 42584939 single base substitution C A 5_prime_UTR_variant COCA-CN 6 42584939 42584939 single base substitution C A intron_variant COCA-CN 6 42589043 42589043 single base substitution C G downstream_gene_variant COCA-CN 6 42589043 42589043 single base substitution C G intron_variant COCA-CN 6 42590850 42590850 single base substitution G A downstream_gene_variant COCA-CN 6 42590850 42590850 single base substitution G A intron_variant COCA-CN 6 42592012 42592012 single base substitution G C downstream_gene_variant COCA-CN 6 42592012 42592012 single base substitution G C intron_variant COCA-CN 6 42600583 42600583 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 6 42600583 42600583 single base substitution C A missense_variant L496M 1486C>A COCA-CN 6 42600644 42600644 single base substitution T C splice_donor_variant COCA-CN 6 42600698 42600698 single base substitution T C intron_variant COCA-CN 6 42607986 42607986 single base substitution A C missense_variant K137T 410A>C COCA-CN 6 42607986 42607986 single base substitution A C missense_variant K633T 1898A>C COCA-CN 6 42608002 42608002 single base substitution A G synonymous_variant L142L 426A>G COCA-CN 6 42608002 42608002 single base substitution A G synonymous_variant L638L 1914A>G COCA-CN 6 42608123 42608123 single base substitution T G intron_variant COCA-CN 6 42608135 42608135 single base substitution T G intron_variant COCA-CN 6 42609232 42609232 single base substitution T G intron_variant COCA-CN 6 42609279 42609279 single base substitution G T intron_variant COCA-CN 6 42610423 42610423 single base substitution A C intron_variant COCA-CN 6 42613416 42613416 single base substitution T C intron_variant COCA-CN 6 42614560 42614560 single base substitution G T intron_variant COCA-CN 6 42618031 42618031 single base substitution A T synonymous_variant G328G 984A>T COCA-CN 6 42618031 42618031 single base substitution A T synonymous_variant G824G 2472A>T COCA-CN 6 42626504 42626504 single base substitution G T missense_variant K569N 1707G>T COCA-CN 6 42626504 42626504 single base substitution G T stop_gained E1062* 3184G>T COCA-CN 6 42627466 42627466 single base substitution C T 3_prime_UTR_variant COCA-CN 6 42627466 42627466 single base substitution C T synonymous_variant F1105F 3315C>T COCA-CN 6 42630107 42630107 single base substitution A G intron_variant COCA-CN 6 42638359 42638359 single base substitution A T intron_variant COCA-CN 6 42644653 42644653 single base substitution G A intron_variant COCA-CN 6 42652508 42652508 single base substitution C A intron_variant COCA-CN 6 42657401 42657401 single base substitution G A 3_prime_UTR_variant COCA-CN 6 42657401 42657401 single base substitution G A missense_variant G1707R 5119G>A COCA-CN 6 42658823 42658823 single base substitution T G 3_prime_UTR_variant COCA-CN 6 42658823 42658823 single base substitution T G missense_variant L1727R 5180T>G COCA-CN 6 42661338 42661338 single base substitution C T downstream_gene_variant COCA-CN 6 42666020 42666020 single base substitution G A downstream_gene_variant EOPC-DE 6 42547129 42547129 single base substitution C T intron_variant EOPC-DE 6 42569061 42569061 single base substitution T G intron_variant EOPC-DE 6 42570220 42570220 single base substitution A G intron_variant ESAD-UK 6 42527011 42527011 single base substitution T C upstream_gene_variant ESAD-UK 6 42527194 42527194 single base substitution A G upstream_gene_variant ESAD-UK 6 42527390 42527390 single base substitution G T upstream_gene_variant ESAD-UK 6 42528358 42528358 single base substitution G T upstream_gene_variant ESAD-UK 6 42529913 42529913 single base substitution G T upstream_gene_variant ESAD-UK 6 42530913 42530913 single base substitution T C upstream_gene_variant ESAD-UK 6 42531507 42531507 insertion of <=200bp - T upstream_gene_variant ESAD-UK 6 42533275 42533275 single base substitution G T intron_variant ESAD-UK 6 42533827 42533827 insertion of <=200bp - T intron_variant ESAD-UK 6 42534215 42534215 single base substitution G A intron_variant ESAD-UK 6 42534732 42534732 single base substitution C A intron_variant ESAD-UK 6 42535872 42535872 deletion of <=200bp T - intron_variant ESAD-UK 6 42536652 42536652 single base substitution C T intron_variant ESAD-UK 6 42537448 42537448 single base substitution G A intron_variant ESAD-UK 6 42538321 42538321 single base substitution G A intron_variant ESAD-UK 6 42539131 42539131 deletion of <=200bp A - intron_variant ESAD-UK 6 42540140 42540140 single base substitution C A intron_variant ESAD-UK 6 42540263 42540263 insertion of <=200bp - T intron_variant ESAD-UK 6 42544986 42544986 single base substitution C G intron_variant ESAD-UK 6 42545032 42545032 single base substitution T A intron_variant ESAD-UK 6 42547931 42547931 single base substitution C T intron_variant ESAD-UK 6 42550820 42550820 single base substitution A G intron_variant ESAD-UK 6 42556923 42556923 single base substitution G C intron_variant ESAD-UK 6 42562381 42562381 single base substitution T C intron_variant ESAD-UK 6 42565323 42565323 single base substitution G C intron_variant ESAD-UK 6 42567346 42567346 deletion of <=200bp G - intron_variant ESAD-UK 6 42567350 42567350 single base substitution G T intron_variant ESAD-UK 6 42567815 42567815 single base substitution G A intron_variant ESAD-UK 6 42573954 42573954 single base substitution C A intron_variant ESAD-UK 6 42575063 42575063 single base substitution G A intron_variant ESAD-UK 6 42577413 42577431 deletion of <=200bp AAGAGTTTGAGACCAGCCT - intron_variant ESAD-UK 6 42580103 42580103 deletion of <=200bp A - intron_variant ESAD-UK 6 42580103 42580103 deletion of <=200bp A - upstream_gene_variant ESAD-UK 6 42582291 42582291 single base substitution T C intron_variant ESAD-UK 6 42582291 42582291 single base substitution T C upstream_gene_variant ESAD-UK 6 42584431 42584431 single base substitution T G intron_variant ESAD-UK 6 42584431 42584431 single base substitution T G upstream_gene_variant ESAD-UK 6 42587388 42587388 single base substitution G A 3_prime_UTR_variant ESAD-UK 6 42587388 42587388 single base substitution G A intron_variant ESAD-UK 6 42587949 42587949 single base substitution A T 3_prime_UTR_variant ESAD-UK 6 42587949 42587949 single base substitution A T intron_variant ESAD-UK 6 42589004 42589004 single base substitution T C downstream_gene_variant ESAD-UK 6 42589004 42589004 single base substitution T C intron_variant ESAD-UK 6 42590782 42590782 single base substitution C T downstream_gene_variant ESAD-UK 6 42590782 42590782 single base substitution C T intron_variant ESAD-UK 6 42591658 42591658 single base substitution G A downstream_gene_variant ESAD-UK 6 42591658 42591658 single base substitution G A intron_variant ESAD-UK 6 42595046 42595046 single base substitution T C intron_variant ESAD-UK 6 42598058 42598058 single base substitution G A intron_variant ESAD-UK 6 42598098 42598098 deletion of <=200bp T - intron_variant ESAD-UK 6 42598156 42598156 single base substitution T A intron_variant ESAD-UK 6 42599805 42599805 single base substitution A T intron_variant ESAD-UK 6 42600525 42600525 single base substitution C T intron_variant ESAD-UK 6 42601826 42601826 insertion of <=200bp - G intron_variant ESAD-UK 6 42602705 42602705 single base substitution G T intron_variant ESAD-UK 6 42603901 42603901 single base substitution C T intron_variant ESAD-UK 6 42606784 42606784 single base substitution C G intron_variant ESAD-UK 6 42608186 42608186 insertion of <=200bp - AC intron_variant ESAD-UK 6 42609530 42609530 single base substitution A G intron_variant ESAD-UK 6 42609704 42609704 single base substitution T A intron_variant ESAD-UK 6 42610035 42610035 single base substitution G T intron_variant ESAD-UK 6 42612401 42612401 single base substitution G T intron_variant ESAD-UK 6 42612639 42612639 single base substitution G T intron_variant ESAD-UK 6 42616655 42616655 single base substitution G C intron_variant ESAD-UK 6 42616679 42616679 single base substitution G A intron_variant ESAD-UK 6 42617151 42617151 single base substitution A G intron_variant ESAD-UK 6 42618192 42618192 single base substitution C T intron_variant ESAD-UK 6 42618502 42618502 single base substitution T C intron_variant ESAD-UK 6 42618516 42618516 single base substitution A G intron_variant ESAD-UK 6 42620070 42620070 single base substitution G A intron_variant ESAD-UK 6 42622323 42622323 single base substitution C T intron_variant ESAD-UK 6 42622954 42622954 single base substitution G A intron_variant ESAD-UK 6 42623877 42623877 single base substitution C T intron_variant ESAD-UK 6 42624211 42624211 single base substitution C T intron_variant ESAD-UK 6 42624286 42624286 single base substitution A G intron_variant ESAD-UK 6 42627800 42627800 single base substitution C T intron_variant ESAD-UK 6 42628331 42628331 single base substitution T G intron_variant ESAD-UK 6 42628730 42628730 insertion of <=200bp - T intron_variant ESAD-UK 6 42629007 42629007 single base substitution C G intron_variant ESAD-UK 6 42629363 42629363 single base substitution G C intron_variant ESAD-UK 6 42631040 42631040 single base substitution G C 3_prime_UTR_variant ESAD-UK 6 42631040 42631040 single base substitution G C missense_variant R1194T 3581G>C ESAD-UK 6 42632643 42632643 single base substitution G A intron_variant ESAD-UK 6 42634285 42634285 deletion of <=200bp A - intron_variant ESAD-UK 6 42637774 42637774 single base substitution C T intron_variant ESAD-UK 6 42638853 42638853 single base substitution G A intron_variant ESAD-UK 6 42639412 42639412 single base substitution C T intron_variant ESAD-UK 6 42642408 42642408 single base substitution G C intron_variant ESAD-UK 6 42648718 42648718 single base substitution G A intron_variant ESAD-UK 6 42654557 42654557 single base substitution C T intron_variant ESAD-UK 6 42656792 42656792 single base substitution T A intron_variant ESAD-UK 6 42658899 42658899 single base substitution G A 3_prime_UTR_variant ESAD-UK 6 42658899 42658899 single base substitution G A stop_gained W1752* 5256G>A ESAD-UK 6 42659531 42659531 single base substitution T C 3_prime_UTR_variant ESAD-UK 6 42659531 42659531 single base substitution T C downstream_gene_variant ESAD-UK 6 42661634 42661634 single base substitution T G downstream_gene_variant ESAD-UK 6 42662108 42662108 insertion of <=200bp - TT downstream_gene_variant ESAD-UK 6 42662715 42662728 deletion of <=200bp TAGAAGTTGTCCCT - downstream_gene_variant ESAD-UK 6 42663779 42663779 single base substitution G A downstream_gene_variant ESAD-UK 6 42665340 42665340 single base substitution C T downstream_gene_variant ESCA-CN 6 42633202 42633202 single base substitution C G 3_prime_UTR_variant ESCA-CN 6 42633202 42633202 single base substitution C G missense_variant Q1252E 3754C>G KIRC-US 6 42604791 42604791 single base substitution C T synonymous_variant L573L 1717C>T KIRC-US 6 42604791 42604791 single base substitution C T synonymous_variant L77L 229C>T KIRC-US 6 42626515 42626515 single base substitution G T missense_variant Q1065H 3195G>T KIRC-US 6 42626515 42626515 single base substitution G T missense_variant S573I 1718G>T KIRC-US 6 42637945 42637945 single base substitution T A 3_prime_UTR_variant KIRC-US 6 42637945 42637945 single base substitution T A missense_variant W1333R 3997T>A KIRC-US 6 42666085 42666085 single base substitution T C downstream_gene_variant KIRP-US 6 42559909 42559909 single base substitution C G missense_variant T120S 359C>G KIRP-US 6 42610219 42610219 insertion of <=200bp - GTAAT frameshift_variant Q203Q*? KIRP-US 6 42610219 42610219 insertion of <=200bp - GTAAT frameshift_variant Q699Q*? KIRP-US 6 42611951 42611951 deletion of <=200bp G - splice_acceptor_variant KIRP-US 6 42657391 42657391 single base substitution G A 3_prime_UTR_variant KIRP-US 6 42657391 42657391 single base substitution G A synonymous_variant E1703E 5109G>A LAML-KR 6 42635500 42635500 single base substitution C T intron_variant LICA-CN 6 42656003 42656003 single base substitution G T 3_prime_UTR_variant LICA-CN 6 42656003 42656003 single base substitution G T missense_variant V1635L 4903G>T LICA-CN 6 42656091 42656091 single base substitution A T 3_prime_UTR_variant LICA-CN 6 42656091 42656091 single base substitution A T missense_variant Y1664F 4991A>T LICA-FR 6 42550041 42550042 deletion of <=200bp AC - intron_variant LICA-FR 6 42569427 42569428 deletion of <=200bp AA - intron_variant LICA-FR 6 42573320 42573320 single base substitution T C intron_variant LICA-FR 6 42582137 42582137 single base substitution C T intron_variant LICA-FR 6 42582137 42582137 single base substitution C T upstream_gene_variant LICA-FR 6 42588089 42588089 single base substitution A G 3_prime_UTR_variant LICA-FR 6 42588089 42588089 single base substitution A G intron_variant LICA-FR 6 42615867 42615867 insertion of <=200bp - TGCTAAGAGTGCTAGTAGTTATTATTAACATGAAAC stop_gained E311DAKSASSYY*HET LICA-FR 6 42615867 42615867 insertion of <=200bp - TGCTAAGAGTGCTAGTAGTTATTATTAACATGAAAC stop_gained E807DAKSASSYY*HET LICA-FR 6 42626452 42626452 single base substitution G A missense_variant R552K 1655G>A LICA-FR 6 42626452 42626452 single base substitution G A synonymous_variant K1044K 3132G>A LICA-FR 6 42632993 42632993 single base substitution A G intron_variant LICA-FR 6 42641863 42641863 single base substitution G T splice_acceptor_variant LICA-FR 6 42659558 42659558 single base substitution T G 3_prime_UTR_variant LICA-FR 6 42659558 42659558 single base substitution T G downstream_gene_variant LICA-FR 6 42663002 42663002 single base substitution A G downstream_gene_variant LIHC-US 6 42562032 42562032 single base substitution A G missense_variant E174G 521A>G LIHC-US 6 42585071 42585071 single base substitution A G intron_variant LIHC-US 6 42585071 42585071 single base substitution A G missense_variant T426A 1276A>G LIHC-US 6 42610159 42610159 single base substitution T G stop_gained Y183* 549T>G LIHC-US 6 42610159 42610159 single base substitution T G stop_gained Y679* 2037T>G LIHC-US 6 42612241 42612241 single base substitution G A missense_variant E255K 763G>A LIHC-US 6 42612241 42612241 single base substitution G A missense_variant E751K 2251G>A LIHC-US 6 42619803 42619803 single base substitution G C missense_variant D374H 1120G>C LIHC-US 6 42619803 42619803 single base substitution G C missense_variant D870H 2608G>C LINC-JP 6 42532111 42532111 single base substitution A C missense_variant E18D 54A>C LINC-JP 6 42538725 42538725 deletion of <=200bp T - intron_variant LINC-JP 6 42542099 42542099 single base substitution C A intron_variant LINC-JP 6 42547915 42547915 single base substitution A G intron_variant LINC-JP 6 42553658 42553658 single base substitution G T intron_variant LINC-JP 6 42570945 42570945 single base substitution C T intron_variant LINC-JP 6 42574746 42574746 single base substitution C A intron_variant LINC-JP 6 42579951 42579951 single base substitution A G missense_variant M303V 907A>G LINC-JP 6 42579951 42579951 single base substitution A G upstream_gene_variant LINC-JP 6 42579997 42579997 single base substitution T G missense_variant L318W 953T>G LINC-JP 6 42579997 42579997 single base substitution T G upstream_gene_variant LINC-JP 6 42581158 42581158 single base substitution A G intron_variant LINC-JP 6 42581158 42581158 single base substitution A G upstream_gene_variant LINC-JP 6 42582137 42582137 single base substitution C T intron_variant LINC-JP 6 42582137 42582137 single base substitution C T upstream_gene_variant LINC-JP 6 42587700 42587700 single base substitution A G 3_prime_UTR_variant LINC-JP 6 42587700 42587700 single base substitution A G intron_variant LINC-JP 6 42598175 42598175 single base substitution C T intron_variant LINC-JP 6 42598784 42598784 single base substitution C T intron_variant LINC-JP 6 42602074 42602074 single base substitution C A intron_variant LINC-JP 6 42606490 42606490 deletion of <=200bp A - intron_variant LINC-JP 6 42607758 42607758 single base substitution C A intron_variant LINC-JP 6 42608158 42608158 single base substitution G A intron_variant LINC-JP 6 42608164 42608164 single base substitution G A intron_variant LINC-JP 6 42610404 42610404 single base substitution C T intron_variant LINC-JP 6 42613181 42613181 single base substitution A G intron_variant LINC-JP 6 42625763 42625763 single base substitution A G splice_region_variant LINC-JP 6 42626584 42626584 single base substitution A T intron_variant LINC-JP 6 42627349 42627349 single base substitution A C intron_variant LINC-JP 6 42633977 42633977 single base substitution G A 3_prime_UTR_variant LINC-JP 6 42633977 42633977 single base substitution G A missense_variant R1292H 3875G>A LINC-JP 6 42635443 42635443 deletion of <=200bp T - intron_variant LINC-JP 6 42637786 42637786 single base substitution A G intron_variant LINC-JP 6 42644665 42644665 single base substitution T C intron_variant LINC-JP 6 42646448 42646448 single base substitution A G intron_variant LINC-JP 6 42647373 42647373 deletion of <=200bp T - intron_variant LINC-JP 6 42651013 42651013 single base substitution C T intron_variant LINC-JP 6 42652575 42652575 single base substitution T C 3_prime_UTR_variant LINC-JP 6 42652575 42652575 single base substitution T C missense_variant Y1607H 4819T>C LINC-JP 6 42655019 42655019 single base substitution G T intron_variant LINC-JP 6 42657276 42657276 single base substitution A C intron_variant LINC-JP 6 42658778 42658778 single base substitution A G 3_prime_UTR_variant LINC-JP 6 42658778 42658778 single base substitution A G missense_variant N1712S 5135A>G LINC-JP 6 42658967 42658970 deletion of <=200bp AAGA - 3_prime_UTR_variant LINC-JP 6 42659002 42659002 single base substitution A G 3_prime_UTR_variant LINC-JP 6 42659008 42659008 single base substitution T C 3_prime_UTR_variant LINC-JP 6 42663335 42663335 single base substitution C T downstream_gene_variant LINC-JP 6 42666188 42666188 single base substitution G A downstream_gene_variant LIRI-JP 6 42527035 42527035 single base substitution C T upstream_gene_variant LIRI-JP 6 42529790 42529790 single base substitution G C upstream_gene_variant LIRI-JP 6 42529795 42529795 single base substitution C A upstream_gene_variant LIRI-JP 6 42529796 42529796 single base substitution C A upstream_gene_variant LIRI-JP 6 42530325 42530325 single base substitution G T upstream_gene_variant LIRI-JP 6 42530365 42530365 single base substitution A G upstream_gene_variant LIRI-JP 6 42534935 42534935 single base substitution A G intron_variant LIRI-JP 6 42535139 42535139 single base substitution A G intron_variant LIRI-JP 6 42536284 42536284 single base substitution G A intron_variant LIRI-JP 6 42537035 42537035 single base substitution A G intron_variant LIRI-JP 6 42537641 42537641 single base substitution T C intron_variant LIRI-JP 6 42538529 42538529 single base substitution C T intron_variant LIRI-JP 6 42540675 42540675 single base substitution T C intron_variant LIRI-JP 6 42543171 42543171 single base substitution A G intron_variant LIRI-JP 6 42543185 42543185 single base substitution G T intron_variant LIRI-JP 6 42544865 42544865 single base substitution A G intron_variant LIRI-JP 6 42545959 42545959 single base substitution C A intron_variant LIRI-JP 6 42546185 42546185 single base substitution G A intron_variant LIRI-JP 6 42547041 42547041 single base substitution T G intron_variant LIRI-JP 6 42547114 42547114 single base substitution C T intron_variant LIRI-JP 6 42547234 42547234 single base substitution A G intron_variant LIRI-JP 6 42551505 42551505 single base substitution G A intron_variant LIRI-JP 6 42556900 42556900 single base substitution A G intron_variant LIRI-JP 6 42557700 42557700 single base substitution A G intron_variant LIRI-JP 6 42557796 42557796 single base substitution A T intron_variant LIRI-JP 6 42558735 42558735 single base substitution A G intron_variant LIRI-JP 6 42559129 42559129 single base substitution A G intron_variant LIRI-JP 6 42559888 42559888 single base substitution G T splice_acceptor_variant LIRI-JP 6 42560371 42560371 deletion of <=200bp A - intron_variant LIRI-JP 6 42561048 42561048 single base substitution A G intron_variant LIRI-JP 6 42564324 42564324 single base substitution C A intron_variant LIRI-JP 6 42565376 42565376 single base substitution G A intron_variant LIRI-JP 6 42565849 42565849 single base substitution A G intron_variant LIRI-JP 6 42569269 42569269 single base substitution A G intron_variant LIRI-JP 6 42569276 42569276 single base substitution A G intron_variant LIRI-JP 6 42571847 42571847 single base substitution G A intron_variant LIRI-JP 6 42572275 42572275 single base substitution T C intron_variant LIRI-JP 6 42574955 42574955 single base substitution G T intron_variant LIRI-JP 6 42576953 42576953 single base substitution A T intron_variant LIRI-JP 6 42577771 42577771 single base substitution A G intron_variant LIRI-JP 6 42578685 42578685 single base substitution G A intron_variant LIRI-JP 6 42585151 42585151 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 6 42585151 42585151 single base substitution A G intron_variant LIRI-JP 6 42585151 42585151 single base substitution A G missense_variant Y396C 1187A>G LIRI-JP 6 42590641 42590641 single base substitution G A downstream_gene_variant LIRI-JP 6 42590641 42590641 single base substitution G A intron_variant LIRI-JP 6 42592346 42592346 single base substitution A G downstream_gene_variant LIRI-JP 6 42592346 42592346 single base substitution A G intron_variant LIRI-JP 6 42593038 42593038 single base substitution A T downstream_gene_variant LIRI-JP 6 42593038 42593038 single base substitution A T intron_variant LIRI-JP 6 42593498 42593498 single base substitution G A intron_variant LIRI-JP 6 42595823 42595823 single base substitution A C intron_variant LIRI-JP 6 42596638 42596638 single base substitution G A intron_variant LIRI-JP 6 42596672 42596672 single base substitution A G intron_variant LIRI-JP 6 42597777 42597777 single base substitution G T intron_variant LIRI-JP 6 42600336 42600336 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 6 42600336 42600336 single base substitution A T missense_variant K443M 1328A>T LIRI-JP 6 42600796 42600796 single base substitution A G intron_variant LIRI-JP 6 42603196 42603196 deletion of <=200bp A - frameshift_variant E33 LIRI-JP 6 42603196 42603196 deletion of <=200bp A - frameshift_variant E529 LIRI-JP 6 42603666 42603666 single base substitution T C intron_variant LIRI-JP 6 42604018 42604018 single base substitution G C intron_variant LIRI-JP 6 42604378 42604378 single base substitution G T intron_variant LIRI-JP 6 42604561 42604561 single base substitution A G intron_variant LIRI-JP 6 42606424 42606424 single base substitution A G intron_variant LIRI-JP 6 42607883 42607883 single base substitution G T intron_variant LIRI-JP 6 42608975 42608975 single base substitution G T intron_variant LIRI-JP 6 42609212 42609212 single base substitution A G intron_variant LIRI-JP 6 42609772 42609772 single base substitution A G intron_variant LIRI-JP 6 42611430 42611430 single base substitution G A intron_variant LIRI-JP 6 42611863 42611863 single base substitution A C intron_variant LIRI-JP 6 42612249 42612249 single base substitution G T missense_variant M257I 771G>T LIRI-JP 6 42612249 42612249 single base substitution G T missense_variant M753I 2259G>T LIRI-JP 6 42612282 42612282 single base substitution T G splice_region_variant LIRI-JP 6 42614010 42614010 single base substitution T G intron_variant LIRI-JP 6 42615407 42615407 single base substitution C G intron_variant LIRI-JP 6 42615735 42615735 single base substitution A G intron_variant LIRI-JP 6 42616065 42616065 single base substitution A T intron_variant LIRI-JP 6 42616615 42616615 single base substitution T G intron_variant LIRI-JP 6 42616728 42616728 single base substitution A G intron_variant LIRI-JP 6 42619193 42619193 single base substitution A G intron_variant LIRI-JP 6 42621306 42621306 single base substitution A G intron_variant LIRI-JP 6 42621899 42621899 single base substitution C T intron_variant LIRI-JP 6 42622171 42622171 single base substitution C A intron_variant LIRI-JP 6 42622487 42622487 single base substitution T C intron_variant LIRI-JP 6 42624829 42624829 single base substitution C T intron_variant LIRI-JP 6 42625427 42625427 single base substitution C A intron_variant LIRI-JP 6 42626252 42626253 deletion of <=200bp TT - intron_variant LIRI-JP 6 42627665 42627665 single base substitution A G intron_variant LIRI-JP 6 42629137 42629137 single base substitution A G intron_variant LIRI-JP 6 42630521 42630521 single base substitution A G intron_variant LIRI-JP 6 42631294 42631294 single base substitution C A intron_variant LIRI-JP 6 42631312 42631312 single base substitution A G intron_variant LIRI-JP 6 42631951 42631951 single base substitution A G intron_variant LIRI-JP 6 42634905 42634905 single base substitution C G intron_variant LIRI-JP 6 42635362 42635362 single base substitution C T intron_variant LIRI-JP 6 42635615 42635615 single base substitution G T intron_variant LIRI-JP 6 42636199 42636199 single base substitution A G intron_variant LIRI-JP 6 42637023 42637023 single base substitution A G intron_variant LIRI-JP 6 42639514 42639514 single base substitution T G intron_variant LIRI-JP 6 42642330 42642330 single base substitution C T intron_variant LIRI-JP 6 42642693 42642693 single base substitution G T intron_variant LIRI-JP 6 42642757 42642757 single base substitution C T intron_variant LIRI-JP 6 42643010 42643010 single base substitution A G intron_variant LIRI-JP 6 42643546 42643546 single base substitution A G intron_variant LIRI-JP 6 42644011 42644011 single base substitution A G intron_variant LIRI-JP 6 42647052 42647052 single base substitution T G intron_variant LIRI-JP 6 42649166 42649166 single base substitution A T intron_variant LIRI-JP 6 42649336 42649336 single base substitution A G intron_variant LIRI-JP 6 42649701 42649701 single base substitution A G intron_variant LIRI-JP 6 42653391 42653391 single base substitution A G intron_variant LIRI-JP 6 42655116 42655116 single base substitution G T intron_variant LIRI-JP 6 42655254 42655255 deletion of <=200bp TG - intron_variant LIRI-JP 6 42655258 42655258 single base substitution G T intron_variant LIRI-JP 6 42656202 42656202 single base substitution A G intron_variant LIRI-JP 6 42659251 42659251 single base substitution G T 3_prime_UTR_variant LIRI-JP 6 42659251 42659251 single base substitution G T downstream_gene_variant LIRI-JP 6 42659767 42659767 single base substitution G A 3_prime_UTR_variant LIRI-JP 6 42659767 42659767 single base substitution G A downstream_gene_variant LIRI-JP 6 42660208 42660208 single base substitution A G 3_prime_UTR_variant LIRI-JP 6 42660208 42660208 single base substitution A G downstream_gene_variant LIRI-JP 6 42663299 42663299 single base substitution A G downstream_gene_variant LIRI-JP 6 42663814 42663814 single base substitution G A downstream_gene_variant LIRI-JP 6 42663984 42663985 deletion of <=200bp AT - downstream_gene_variant LUSC-KR 6 42540519 42540519 single base substitution A G intron_variant LUSC-KR 6 42542455 42542455 single base substitution A G intron_variant LUSC-KR 6 42562959 42562959 single base substitution C G intron_variant LUSC-KR 6 42565537 42565537 single base substitution C G intron_variant LUSC-KR 6 42569613 42569613 single base substitution C T intron_variant LUSC-KR 6 42571647 42571647 single base substitution T G intron_variant LUSC-KR 6 42572457 42572457 single base substitution G A intron_variant LUSC-KR 6 42577818 42577818 single base substitution G A intron_variant LUSC-KR 6 42582137 42582137 single base substitution C T intron_variant LUSC-KR 6 42582137 42582137 single base substitution C T upstream_gene_variant LUSC-KR 6 42596167 42596167 single base substitution G C intron_variant LUSC-KR 6 42605229 42605229 single base substitution T C intron_variant LUSC-KR 6 42611032 42611032 single base substitution C G intron_variant LUSC-KR 6 42615499 42615499 single base substitution C A intron_variant LUSC-KR 6 42615950 42615950 single base substitution C T intron_variant LUSC-KR 6 42617611 42617611 single base substitution A G intron_variant LUSC-KR 6 42619256 42619256 single base substitution G T intron_variant LUSC-KR 6 42621228 42621228 single base substitution A G intron_variant LUSC-KR 6 42626341 42626341 single base substitution G A intron_variant LUSC-KR 6 42626868 42626868 single base substitution A T intron_variant LUSC-KR 6 42627430 42627430 single base substitution C T 3_prime_UTR_variant LUSC-KR 6 42627430 42627430 single base substitution C T synonymous_variant G1093G 3279C>T LUSC-KR 6 42635427 42635427 single base substitution A T intron_variant LUSC-KR 6 42635458 42635458 single base substitution C T intron_variant LUSC-KR 6 42641222 42641222 single base substitution G T intron_variant LUSC-KR 6 42641332 42641332 single base substitution C T intron_variant LUSC-KR 6 42643685 42643685 single base substitution A T intron_variant LUSC-KR 6 42650180 42650180 single base substitution T A intron_variant LUSC-KR 6 42654700 42654700 single base substitution G T intron_variant LUSC-KR 6 42656327 42656327 single base substitution C A intron_variant LUSC-KR 6 42658752 42658752 single base substitution T C intron_variant LUSC-KR 6 42664126 42664126 single base substitution A T downstream_gene_variant LUSC-KR 6 42665795 42665795 single base substitution G A downstream_gene_variant LUSC-KR 6 42666020 42666020 single base substitution G A downstream_gene_variant LUSC-US 6 42603165 42603165 single base substitution C T missense_variant P23S 67C>T LUSC-US 6 42603165 42603165 single base substitution C T missense_variant P519S 1555C>T LUSC-US 6 42603239 42603239 single base substitution A G synonymous_variant K47K 141A>G LUSC-US 6 42603239 42603239 single base substitution A G synonymous_variant K543K 1629A>G LUSC-US 6 42613251 42613251 single base substitution A G missense_variant I282V 844A>G LUSC-US 6 42613251 42613251 single base substitution A G missense_variant I778V 2332A>G LUSC-US 6 42625796 42625796 single base substitution A G missense_variant I473M 1419A>G LUSC-US 6 42625796 42625796 single base substitution A G missense_variant I969M 2907A>G LUSC-US 6 42631065 42631065 single base substitution T C 3_prime_UTR_variant LUSC-US 6 42631065 42631065 single base substitution T C synonymous_variant D1202D 3606T>C LUSC-US 6 42641542 42641542 single base substitution G T 3_prime_UTR_variant LUSC-US 6 42641542 42641542 single base substitution G T missense_variant R1367M 4100G>T LUSC-US 6 42643823 42643823 single base substitution G T intron_variant LUSC-US 6 42643823 42643823 single base substitution G T missense_variant L1427F 4281G>T MALY-DE 6 42532343 42532346 deletion of <=200bp ACTA - intron_variant MALY-DE 6 42539506 42539506 single base substitution C A intron_variant MALY-DE 6 42540406 42540406 single base substitution T A intron_variant MALY-DE 6 42550007 42550007 single base substitution C T intron_variant MALY-DE 6 42553526 42553526 single base substitution G A intron_variant MALY-DE 6 42569574 42569574 single base substitution T A intron_variant MALY-DE 6 42569592 42569592 single base substitution T C intron_variant MALY-DE 6 42570500 42570501 deletion of <=200bp GT - intron_variant MALY-DE 6 42572321 42572321 single base substitution T G intron_variant MALY-DE 6 42574986 42574986 single base substitution A G intron_variant MALY-DE 6 42582080 42582080 single base substitution G A intron_variant MALY-DE 6 42582080 42582080 single base substitution G A upstream_gene_variant MALY-DE 6 42582082 42582082 single base substitution G A intron_variant MALY-DE 6 42582082 42582082 single base substitution G A upstream_gene_variant MALY-DE 6 42582216 42582216 single base substitution T C intron_variant MALY-DE 6 42582216 42582216 single base substitution T C upstream_gene_variant MALY-DE 6 42582716 42582716 single base substitution A T intron_variant MALY-DE 6 42582716 42582716 single base substitution A T upstream_gene_variant MALY-DE 6 42585021 42585021 single base substitution A G intron_variant MALY-DE 6 42585021 42585021 single base substitution A G missense_variant E409G 1226A>G MALY-DE 6 42588631 42588631 single base substitution C T downstream_gene_variant MALY-DE 6 42588631 42588631 single base substitution C T intron_variant MALY-DE 6 42589350 42589350 single base substitution G A downstream_gene_variant MALY-DE 6 42589350 42589350 single base substitution G A intron_variant MALY-DE 6 42595218 42595218 single base substitution C T intron_variant MALY-DE 6 42599783 42599783 single base substitution A G intron_variant MALY-DE 6 42599914 42599914 single base substitution G A intron_variant MALY-DE 6 42614558 42614558 single base substitution T G intron_variant MALY-DE 6 42614560 42614560 single base substitution G T intron_variant MALY-DE 6 42614564 42614564 single base substitution G T intron_variant MALY-DE 6 42614582 42614582 single base substitution T G intron_variant MALY-DE 6 42628511 42628511 single base substitution C G intron_variant MALY-DE 6 42630690 42630690 single base substitution C A intron_variant MALY-DE 6 42660052 42660052 single base substitution G A 3_prime_UTR_variant MALY-DE 6 42660052 42660052 single base substitution G A downstream_gene_variant MALY-DE 6 42662831 42662831 single base substitution T G downstream_gene_variant MALY-DE 6 42663254 42663254 single base substitution A G downstream_gene_variant MELA-AU 6 42526806 42526806 single base substitution C T upstream_gene_variant MELA-AU 6 42526927 42526927 single base substitution A T upstream_gene_variant MELA-AU 6 42526973 42526973 single base substitution C T upstream_gene_variant MELA-AU 6 42527007 42527007 single base substitution G A upstream_gene_variant MELA-AU 6 42527403 42527403 single base substitution C T upstream_gene_variant MELA-AU 6 42527527 42527527 single base substitution G A upstream_gene_variant MELA-AU 6 42527559 42527559 single base substitution G A upstream_gene_variant MELA-AU 6 42527665 42527665 single base substitution C T upstream_gene_variant MELA-AU 6 42527666 42527666 single base substitution C T upstream_gene_variant MELA-AU 6 42527759 42527759 single base substitution A G upstream_gene_variant MELA-AU 6 42527776 42527776 single base substitution C T upstream_gene_variant MELA-AU 6 42528145 42528145 single base substitution G A upstream_gene_variant MELA-AU 6 42528164 42528164 single base substitution C T upstream_gene_variant MELA-AU 6 42528404 42528404 single base substitution G A upstream_gene_variant MELA-AU 6 42528545 42528545 single base substitution G A upstream_gene_variant MELA-AU 6 42528891 42528891 single base substitution G A upstream_gene_variant MELA-AU 6 42528896 42528896 single base substitution G A upstream_gene_variant MELA-AU 6 42529161 42529161 single base substitution C T upstream_gene_variant MELA-AU 6 42529197 42529197 single base substitution G A upstream_gene_variant MELA-AU 6 42529489 42529489 single base substitution G A upstream_gene_variant MELA-AU 6 42529568 42529568 single base substitution G A upstream_gene_variant MELA-AU 6 42529669 42529669 single base substitution G A upstream_gene_variant MELA-AU 6 42529739 42529739 single base substitution C T upstream_gene_variant MELA-AU 6 42529749 42529749 single base substitution G A upstream_gene_variant MELA-AU 6 42529828 42529828 single base substitution C T upstream_gene_variant MELA-AU 6 42529891 42529891 single base substitution A T upstream_gene_variant MELA-AU 6 42530182 42530182 single base substitution G A upstream_gene_variant MELA-AU 6 42530341 42530341 single base substitution G A upstream_gene_variant MELA-AU 6 42530356 42530356 single base substitution C T upstream_gene_variant MELA-AU 6 42530486 42530486 single base substitution T A upstream_gene_variant MELA-AU 6 42530522 42530523 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 6 42531517 42531518 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 6 42531518 42531518 single base substitution G A upstream_gene_variant MELA-AU 6 42531607 42531607 single base substitution G A upstream_gene_variant MELA-AU 6 42531667 42531667 single base substitution T C upstream_gene_variant MELA-AU 6 42531730 42531730 single base substitution C T upstream_gene_variant MELA-AU 6 42534425 42534425 single base substitution C T intron_variant MELA-AU 6 42534903 42534903 single base substitution C T intron_variant MELA-AU 6 42535785 42535785 single base substitution C T intron_variant MELA-AU 6 42535958 42535958 single base substitution T C intron_variant MELA-AU 6 42536005 42536005 single base substitution C T intron_variant MELA-AU 6 42536006 42536006 single base substitution C T intron_variant MELA-AU 6 42537159 42537159 single base substitution C T intron_variant MELA-AU 6 42537504 42537504 single base substitution C T intron_variant MELA-AU 6 42537612 42537612 single base substitution G A intron_variant MELA-AU 6 42537960 42537960 single base substitution C T intron_variant MELA-AU 6 42538197 42538197 single base substitution C T intron_variant MELA-AU 6 42538510 42538510 single base substitution C T intron_variant MELA-AU 6 42538685 42538685 single base substitution A G intron_variant MELA-AU 6 42539812 42539812 single base substitution C T intron_variant MELA-AU 6 42539924 42539924 single base substitution T G intron_variant MELA-AU 6 42540319 42540319 single base substitution A G intron_variant MELA-AU 6 42540731 42540731 single base substitution C T intron_variant MELA-AU 6 42541762 42541762 single base substitution C T intron_variant MELA-AU 6 42541783 42541783 single base substitution T A intron_variant MELA-AU 6 42542408 42542408 single base substitution T C intron_variant MELA-AU 6 42542556 42542556 single base substitution C T intron_variant MELA-AU 6 42542591 42542591 single base substitution C T intron_variant MELA-AU 6 42542662 42542662 single base substitution C T intron_variant MELA-AU 6 42543785 42543785 single base substitution C T intron_variant MELA-AU 6 42543850 42543850 single base substitution C T intron_variant MELA-AU 6 42544118 42544118 single base substitution T A intron_variant MELA-AU 6 42544553 42544553 single base substitution C T intron_variant MELA-AU 6 42544691 42544691 single base substitution C T intron_variant MELA-AU 6 42544863 42544863 single base substitution C T intron_variant MELA-AU 6 42545378 42545378 single base substitution T A intron_variant MELA-AU 6 42545795 42545795 single base substitution C T intron_variant MELA-AU 6 42546266 42546266 single base substitution C T intron_variant MELA-AU 6 42546270 42546270 single base substitution C T intron_variant MELA-AU 6 42547359 42547359 single base substitution C T intron_variant MELA-AU 6 42547443 42547443 single base substitution C T intron_variant MELA-AU 6 42548179 42548179 single base substitution G C intron_variant MELA-AU 6 42548525 42548525 single base substitution C T intron_variant MELA-AU 6 42548678 42548678 single base substitution C T intron_variant MELA-AU 6 42548843 42548843 single base substitution C T intron_variant MELA-AU 6 42549291 42549291 single base substitution C T intron_variant MELA-AU 6 42549911 42549911 single base substitution C T intron_variant MELA-AU 6 42550004 42550004 single base substitution G A intron_variant MELA-AU 6 42551181 42551181 single base substitution C T intron_variant MELA-AU 6 42551432 42551432 single base substitution T A intron_variant MELA-AU 6 42552382 42552382 single base substitution C T intron_variant MELA-AU 6 42552669 42552669 single base substitution C T intron_variant MELA-AU 6 42553134 42553134 single base substitution T A intron_variant MELA-AU 6 42553516 42553517 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 42553634 42553634 single base substitution T C intron_variant MELA-AU 6 42553850 42553850 single base substitution C T intron_variant MELA-AU 6 42554130 42554130 single base substitution C T intron_variant MELA-AU 6 42554668 42554668 single base substitution C T intron_variant MELA-AU 6 42554961 42554961 single base substitution A G intron_variant MELA-AU 6 42555098 42555098 single base substitution C T intron_variant MELA-AU 6 42555353 42555353 single base substitution C T intron_variant MELA-AU 6 42556064 42556064 single base substitution C T intron_variant MELA-AU 6 42556469 42556469 single base substitution C T intron_variant MELA-AU 6 42556490 42556490 single base substitution G A intron_variant MELA-AU 6 42556530 42556530 single base substitution C T intron_variant MELA-AU 6 42557179 42557179 single base substitution C T intron_variant MELA-AU 6 42559286 42559286 single base substitution C T intron_variant MELA-AU 6 42559351 42559351 single base substitution G A intron_variant MELA-AU 6 42559628 42559628 single base substitution C T intron_variant MELA-AU 6 42559795 42559795 single base substitution C T intron_variant MELA-AU 6 42559868 42559868 single base substitution T A intron_variant MELA-AU 6 42559997 42559997 single base substitution C T intron_variant MELA-AU 6 42560423 42560423 single base substitution C G intron_variant MELA-AU 6 42560568 42560568 single base substitution C T intron_variant MELA-AU 6 42561416 42561416 single base substitution C T intron_variant MELA-AU 6 42561482 42561482 single base substitution C T intron_variant MELA-AU 6 42561845 42561845 single base substitution C T intron_variant MELA-AU 6 42561921 42561921 single base substitution T C splice_region_variant MELA-AU 6 42561924 42561924 single base substitution C T splice_region_variant MELA-AU 6 42562056 42562056 single base substitution C T intron_variant MELA-AU 6 42562657 42562657 single base substitution C T intron_variant MELA-AU 6 42563077 42563077 single base substitution A G intron_variant MELA-AU 6 42563087 42563087 single base substitution C T intron_variant MELA-AU 6 42564383 42564383 single base substitution C T intron_variant MELA-AU 6 42564474 42564474 single base substitution C T intron_variant MELA-AU 6 42564814 42564814 single base substitution G A intron_variant MELA-AU 6 42564907 42564907 single base substitution C T intron_variant MELA-AU 6 42565398 42565398 single base substitution T A intron_variant MELA-AU 6 42565506 42565506 single base substitution T C intron_variant MELA-AU 6 42565682 42565682 single base substitution C T intron_variant MELA-AU 6 42565843 42565843 single base substitution C T intron_variant MELA-AU 6 42566025 42566025 single base substitution C T intron_variant MELA-AU 6 42566228 42566228 single base substitution C T intron_variant MELA-AU 6 42566349 42566350 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 42566486 42566486 single base substitution C T intron_variant MELA-AU 6 42566623 42566623 single base substitution C T intron_variant MELA-AU 6 42567146 42567146 single base substitution A T intron_variant MELA-AU 6 42567177 42567177 single base substitution T A intron_variant MELA-AU 6 42567499 42567499 single base substitution C T intron_variant MELA-AU 6 42567501 42567501 single base substitution C T intron_variant MELA-AU 6 42567540 42567540 single base substitution C T intron_variant MELA-AU 6 42568401 42568401 single base substitution C T intron_variant MELA-AU 6 42568743 42568743 single base substitution C T intron_variant MELA-AU 6 42568855 42568855 single base substitution C T intron_variant MELA-AU 6 42568959 42568959 single base substitution C T intron_variant MELA-AU 6 42570032 42570032 single base substitution C T intron_variant MELA-AU 6 42570044 42570044 single base substitution C T intron_variant MELA-AU 6 42570499 42570499 single base substitution C T intron_variant MELA-AU 6 42570761 42570761 single base substitution C T intron_variant MELA-AU 6 42571246 42571246 single base substitution G A intron_variant MELA-AU 6 42571745 42571745 single base substitution G A intron_variant MELA-AU 6 42571866 42571866 single base substitution C T intron_variant MELA-AU 6 42572016 42572016 single base substitution C T intron_variant MELA-AU 6 42572300 42572300 single base substitution T C intron_variant MELA-AU 6 42572549 42572549 single base substitution G C intron_variant MELA-AU 6 42572791 42572791 single base substitution C T intron_variant MELA-AU 6 42573596 42573596 single base substitution A G missense_variant D267G 800A>G MELA-AU 6 42574930 42574930 single base substitution C T intron_variant MELA-AU 6 42575343 42575343 single base substitution C T intron_variant MELA-AU 6 42577170 42577170 single base substitution C T intron_variant MELA-AU 6 42577609 42577609 single base substitution G A intron_variant MELA-AU 6 42578680 42578680 single base substitution T C intron_variant MELA-AU 6 42579074 42579074 single base substitution C T intron_variant MELA-AU 6 42579527 42579527 single base substitution C T intron_variant MELA-AU 6 42579682 42579682 single base substitution C T intron_variant MELA-AU 6 42581316 42581316 single base substitution G A intron_variant MELA-AU 6 42581316 42581316 single base substitution G A upstream_gene_variant MELA-AU 6 42581344 42581344 single base substitution C T intron_variant MELA-AU 6 42581344 42581344 single base substitution C T upstream_gene_variant MELA-AU 6 42581456 42581456 single base substitution C T intron_variant MELA-AU 6 42581456 42581456 single base substitution C T upstream_gene_variant MELA-AU 6 42581892 42581892 single base substitution G A intron_variant MELA-AU 6 42581892 42581892 single base substitution G A upstream_gene_variant MELA-AU 6 42582304 42582304 single base substitution C T intron_variant MELA-AU 6 42582304 42582304 single base substitution C T upstream_gene_variant MELA-AU 6 42582584 42582584 single base substitution A T intron_variant MELA-AU 6 42582584 42582584 single base substitution A T upstream_gene_variant MELA-AU 6 42583313 42583313 single base substitution C T intron_variant MELA-AU 6 42583313 42583313 single base substitution C T upstream_gene_variant MELA-AU 6 42583880 42583880 single base substitution C T intron_variant MELA-AU 6 42583880 42583880 single base substitution C T upstream_gene_variant MELA-AU 6 42584146 42584146 single base substitution T C intron_variant MELA-AU 6 42584146 42584146 single base substitution T C upstream_gene_variant MELA-AU 6 42584309 42584309 single base substitution G T intron_variant MELA-AU 6 42584309 42584309 single base substitution G T upstream_gene_variant MELA-AU 6 42585063 42585063 single base substitution C T intron_variant MELA-AU 6 42585063 42585063 single base substitution C T missense_variant T423I 1268C>T MELA-AU 6 42585068 42585069 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 6 42585068 42585069 multiple base substitution (>=2bp and <=200bp) CC AT missense_variant P425I 1273CC>AT MELA-AU 6 42585283 42585283 single base substitution C T intron_variant MELA-AU 6 42585466 42585466 single base substitution C T intron_variant MELA-AU 6 42585566 42585566 single base substitution C T intron_variant MELA-AU 6 42585638 42585638 single base substitution C T intron_variant MELA-AU 6 42585921 42585921 single base substitution C T intron_variant MELA-AU 6 42585926 42585926 single base substitution G A intron_variant MELA-AU 6 42586739 42586739 single base substitution C T intron_variant MELA-AU 6 42587320 42587320 single base substitution C T 3_prime_UTR_variant MELA-AU 6 42587320 42587320 single base substitution C T intron_variant MELA-AU 6 42587846 42587846 single base substitution T G 3_prime_UTR_variant MELA-AU 6 42587846 42587846 single base substitution T G intron_variant MELA-AU 6 42587978 42587982 deletion of <=200bp TTTAA - 3_prime_UTR_variant MELA-AU 6 42587978 42587982 deletion of <=200bp TTTAA - intron_variant MELA-AU 6 42588472 42588472 single base substitution C G downstream_gene_variant MELA-AU 6 42588472 42588472 single base substitution C G intron_variant MELA-AU 6 42588771 42588771 single base substitution G A downstream_gene_variant MELA-AU 6 42588771 42588771 single base substitution G A intron_variant MELA-AU 6 42588886 42588886 single base substitution C T downstream_gene_variant MELA-AU 6 42588886 42588886 single base substitution C T intron_variant MELA-AU 6 42589092 42589092 single base substitution C T downstream_gene_variant MELA-AU 6 42589092 42589092 single base substitution C T intron_variant MELA-AU 6 42589560 42589560 single base substitution C A downstream_gene_variant MELA-AU 6 42589560 42589560 single base substitution C A intron_variant MELA-AU 6 42589759 42589759 single base substitution T C downstream_gene_variant MELA-AU 6 42589759 42589759 single base substitution T C intron_variant MELA-AU 6 42590759 42590759 single base substitution C T downstream_gene_variant MELA-AU 6 42590759 42590759 single base substitution C T intron_variant MELA-AU 6 42591025 42591025 single base substitution T C downstream_gene_variant MELA-AU 6 42591025 42591025 single base substitution T C intron_variant MELA-AU 6 42591041 42591041 single base substitution G A downstream_gene_variant MELA-AU 6 42591041 42591041 single base substitution G A intron_variant MELA-AU 6 42591100 42591100 single base substitution C T downstream_gene_variant MELA-AU 6 42591100 42591100 single base substitution C T intron_variant MELA-AU 6 42592817 42592817 single base substitution G T downstream_gene_variant MELA-AU 6 42592817 42592817 single base substitution G T intron_variant MELA-AU 6 42593117 42593117 single base substitution G A intron_variant MELA-AU 6 42593311 42593311 single base substitution C T intron_variant MELA-AU 6 42593413 42593413 single base substitution C T intron_variant MELA-AU 6 42593809 42593809 single base substitution C T intron_variant MELA-AU 6 42593863 42593863 single base substitution C T intron_variant MELA-AU 6 42594139 42594139 single base substitution C T intron_variant MELA-AU 6 42594609 42594609 single base substitution C T intron_variant MELA-AU 6 42594947 42594947 single base substitution C T intron_variant MELA-AU 6 42595499 42595499 single base substitution C T intron_variant MELA-AU 6 42595753 42595753 single base substitution C T intron_variant MELA-AU 6 42595857 42595857 single base substitution C T intron_variant MELA-AU 6 42596748 42596748 single base substitution T G intron_variant MELA-AU 6 42596869 42596869 single base substitution C T intron_variant MELA-AU 6 42597514 42597514 single base substitution T A intron_variant MELA-AU 6 42597672 42597672 single base substitution C T intron_variant MELA-AU 6 42598366 42598366 single base substitution C T intron_variant MELA-AU 6 42598572 42598572 single base substitution C G intron_variant MELA-AU 6 42598584 42598584 single base substitution C T intron_variant MELA-AU 6 42598604 42598604 single base substitution G A intron_variant MELA-AU 6 42598654 42598654 single base substitution C T intron_variant MELA-AU 6 42598668 42598668 single base substitution C T intron_variant MELA-AU 6 42599446 42599446 single base substitution C T intron_variant MELA-AU 6 42599805 42599805 single base substitution A T intron_variant MELA-AU 6 42599914 42599914 single base substitution G A intron_variant MELA-AU 6 42600725 42600725 single base substitution T G intron_variant MELA-AU 6 42602158 42602158 single base substitution A G intron_variant MELA-AU 6 42602267 42602267 single base substitution A C intron_variant MELA-AU 6 42602389 42602389 single base substitution C T intron_variant MELA-AU 6 42602418 42602418 single base substitution C T intron_variant MELA-AU 6 42602631 42602631 single base substitution G T intron_variant MELA-AU 6 42603029 42603029 single base substitution C T intron_variant MELA-AU 6 42603045 42603045 single base substitution C T intron_variant MELA-AU 6 42603373 42603373 single base substitution G A intron_variant MELA-AU 6 42603495 42603495 single base substitution C T intron_variant MELA-AU 6 42603509 42603509 single base substitution C T intron_variant MELA-AU 6 42603956 42603956 single base substitution C T intron_variant MELA-AU 6 42604007 42604007 single base substitution C T intron_variant MELA-AU 6 42604724 42604724 single base substitution C T intron_variant MELA-AU 6 42605102 42605102 single base substitution C T intron_variant MELA-AU 6 42605383 42605383 single base substitution C T intron_variant MELA-AU 6 42605406 42605406 single base substitution A G intron_variant MELA-AU 6 42605755 42605755 single base substitution G A intron_variant MELA-AU 6 42605788 42605788 single base substitution C T intron_variant MELA-AU 6 42605996 42605996 single base substitution C T intron_variant MELA-AU 6 42606136 42606136 single base substitution C T intron_variant MELA-AU 6 42606296 42606296 single base substitution C A intron_variant MELA-AU 6 42606458 42606458 single base substitution G A intron_variant MELA-AU 6 42607086 42607086 single base substitution T A intron_variant MELA-AU 6 42607291 42607291 single base substitution C T intron_variant MELA-AU 6 42608570 42608570 single base substitution G A intron_variant MELA-AU 6 42608588 42608588 single base substitution C T intron_variant MELA-AU 6 42609466 42609466 single base substitution C T intron_variant MELA-AU 6 42610269 42610269 single base substitution C T intron_variant MELA-AU 6 42610292 42610292 single base substitution T C intron_variant MELA-AU 6 42610394 42610394 single base substitution C T intron_variant MELA-AU 6 42610692 42610692 single base substitution C T intron_variant MELA-AU 6 42610717 42610717 single base substitution C T intron_variant MELA-AU 6 42611672 42611672 single base substitution G A intron_variant MELA-AU 6 42612150 42612150 single base substitution C T intron_variant MELA-AU 6 42612420 42612420 single base substitution C T intron_variant MELA-AU 6 42612952 42612952 single base substitution G A intron_variant MELA-AU 6 42613322 42613322 single base substitution T G synonymous_variant P305P 915T>G MELA-AU 6 42613322 42613322 single base substitution T G synonymous_variant P801P 2403T>G MELA-AU 6 42613371 42613371 single base substitution C T intron_variant MELA-AU 6 42613485 42613485 single base substitution G A intron_variant MELA-AU 6 42613526 42613526 single base substitution C T intron_variant MELA-AU 6 42613612 42613612 single base substitution G A intron_variant MELA-AU 6 42613858 42613858 single base substitution C T intron_variant MELA-AU 6 42614449 42614449 single base substitution T C intron_variant MELA-AU 6 42614558 42614558 single base substitution T G intron_variant MELA-AU 6 42614560 42614560 single base substitution G T intron_variant MELA-AU 6 42614808 42614809 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 42615016 42615016 single base substitution T A intron_variant MELA-AU 6 42615835 42615836 multiple base substitution (>=2bp and <=200bp) AC GT intron_variant MELA-AU 6 42616376 42616376 single base substitution C T intron_variant MELA-AU 6 42616610 42616610 single base substitution C T intron_variant MELA-AU 6 42618483 42618483 single base substitution C T intron_variant MELA-AU 6 42618763 42618763 single base substitution C T intron_variant MELA-AU 6 42619226 42619226 single base substitution G T intron_variant MELA-AU 6 42620333 42620333 single base substitution T G missense_variant W411G 1231T>G MELA-AU 6 42620333 42620333 single base substitution T G missense_variant W907G 2719T>G MELA-AU 6 42621643 42621643 single base substitution A G intron_variant MELA-AU 6 42623122 42623122 single base substitution A G intron_variant MELA-AU 6 42623418 42623418 single base substitution G A synonymous_variant T447T 1341G>A MELA-AU 6 42623418 42623418 single base substitution G A synonymous_variant T943T 2829G>A MELA-AU 6 42623517 42623517 single base substitution C T intron_variant MELA-AU 6 42624254 42624254 single base substitution C T intron_variant MELA-AU 6 42625227 42625227 single base substitution C T intron_variant MELA-AU 6 42625828 42625828 single base substitution C T missense_variant P484L 1451C>T MELA-AU 6 42625828 42625828 single base substitution C T missense_variant P980L 2939C>T MELA-AU 6 42625881 42625881 single base substitution C T intron_variant MELA-AU 6 42626991 42626991 single base substitution C T intron_variant MELA-AU 6 42627432 42627432 single base substitution C T 3_prime_UTR_variant MELA-AU 6 42627432 42627432 single base substitution C T missense_variant P1094L 3281C>T MELA-AU 6 42628447 42628447 single base substitution C T intron_variant MELA-AU 6 42628752 42628752 single base substitution C T intron_variant MELA-AU 6 42629302 42629302 single base substitution C T intron_variant MELA-AU 6 42629303 42629303 single base substitution C T intron_variant MELA-AU 6 42629315 42629315 single base substitution C T intron_variant MELA-AU 6 42629325 42629325 single base substitution C T intron_variant MELA-AU 6 42630058 42630058 single base substitution G A intron_variant MELA-AU 6 42630089 42630089 single base substitution C T intron_variant MELA-AU 6 42630101 42630101 single base substitution A T intron_variant MELA-AU 6 42630129 42630129 single base substitution A T intron_variant MELA-AU 6 42630131 42630131 single base substitution C T intron_variant MELA-AU 6 42631075 42631076 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 6 42631075 42631076 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant G1206K 3616GG>AA MELA-AU 6 42631276 42631276 single base substitution C T intron_variant MELA-AU 6 42631722 42631723 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 42631948 42631948 single base substitution G A intron_variant MELA-AU 6 42632166 42632166 single base substitution C T intron_variant MELA-AU 6 42632824 42632824 single base substitution C T intron_variant MELA-AU 6 42633031 42633031 single base substitution C T intron_variant MELA-AU 6 42633499 42633499 single base substitution G A intron_variant MELA-AU 6 42633583 42633583 single base substitution C T intron_variant MELA-AU 6 42633869 42633869 single base substitution C T intron_variant MELA-AU 6 42634360 42634360 single base substitution A G intron_variant MELA-AU 6 42634449 42634449 single base substitution C T intron_variant MELA-AU 6 42634468 42634468 single base substitution C T intron_variant MELA-AU 6 42634521 42634521 single base substitution T C intron_variant MELA-AU 6 42635046 42635046 single base substitution C T intron_variant MELA-AU 6 42635362 42635362 single base substitution C T intron_variant MELA-AU 6 42635989 42635989 single base substitution C T intron_variant MELA-AU 6 42636167 42636167 single base substitution C T intron_variant MELA-AU 6 42636246 42636259 deletion of <=200bp CAGTTCACTGCAAC - intron_variant MELA-AU 6 42636269 42636269 single base substitution C T intron_variant MELA-AU 6 42636292 42636292 single base substitution C T intron_variant MELA-AU 6 42636443 42636443 single base substitution G C intron_variant MELA-AU 6 42636703 42636704 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 42638658 42638658 single base substitution C T intron_variant MELA-AU 6 42639260 42639260 single base substitution C T intron_variant MELA-AU 6 42639431 42639431 single base substitution C T intron_variant MELA-AU 6 42639550 42639550 single base substitution C T intron_variant MELA-AU 6 42639723 42639723 single base substitution C T intron_variant MELA-AU 6 42639743 42639743 single base substitution C T intron_variant MELA-AU 6 42639862 42639862 single base substitution C T intron_variant MELA-AU 6 42640164 42640164 single base substitution C T intron_variant MELA-AU 6 42640326 42640326 single base substitution C T intron_variant MELA-AU 6 42640616 42640616 single base substitution C T intron_variant MELA-AU 6 42640704 42640704 single base substitution G A intron_variant MELA-AU 6 42641218 42641218 single base substitution C T intron_variant MELA-AU 6 42641367 42641367 single base substitution C T intron_variant MELA-AU 6 42641447 42641447 single base substitution C T intron_variant MELA-AU 6 42641906 42641906 single base substitution T C 3_prime_UTR_variant MELA-AU 6 42641906 42641906 single base substitution T C missense_variant L1409S 4226T>C MELA-AU 6 42642123 42642123 single base substitution G A intron_variant MELA-AU 6 42642655 42642655 single base substitution C T intron_variant MELA-AU 6 42642702 42642702 single base substitution C T intron_variant MELA-AU 6 42643408 42643408 single base substitution G A intron_variant MELA-AU 6 42643411 42643411 single base substitution A T intron_variant MELA-AU 6 42643622 42643622 single base substitution G A intron_variant MELA-AU 6 42644018 42644018 single base substitution T G intron_variant MELA-AU 6 42644374 42644374 single base substitution C T intron_variant MELA-AU 6 42644550 42644550 single base substitution C T 3_prime_UTR_variant MELA-AU 6 42644550 42644550 single base substitution C T missense_variant P1473S 4417C>T MELA-AU 6 42644683 42644683 single base substitution C T intron_variant MELA-AU 6 42644932 42644932 single base substitution C T intron_variant MELA-AU 6 42645156 42645156 single base substitution C T intron_variant MELA-AU 6 42645337 42645337 single base substitution G A intron_variant MELA-AU 6 42645435 42645435 single base substitution C T intron_variant MELA-AU 6 42645823 42645823 single base substitution C T intron_variant MELA-AU 6 42646308 42646308 single base substitution C T 3_prime_UTR_variant MELA-AU 6 42646308 42646308 single base substitution C T synonymous_variant L1504L 4510C>T MELA-AU 6 42646368 42646368 single base substitution C T 3_prime_UTR_variant MELA-AU 6 42646368 42646368 single base substitution C T missense_variant H1524Y 4570C>T MELA-AU 6 42647332 42647332 single base substitution C T intron_variant MELA-AU 6 42648565 42648566 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 42649050 42649051 deletion of <=200bp GT - intron_variant MELA-AU 6 42649631 42649631 single base substitution A T intron_variant MELA-AU 6 42650025 42650025 single base substitution T C intron_variant MELA-AU 6 42650403 42650403 single base substitution C T intron_variant MELA-AU 6 42650695 42650695 single base substitution G T intron_variant MELA-AU 6 42650710 42650710 single base substitution C T intron_variant MELA-AU 6 42650720 42650720 single base substitution A G intron_variant MELA-AU 6 42650922 42650922 single base substitution C T intron_variant MELA-AU 6 42650993 42650993 single base substitution T C intron_variant MELA-AU 6 42651874 42651874 single base substitution C T intron_variant MELA-AU 6 42652191 42652191 single base substitution G A intron_variant MELA-AU 6 42652278 42652278 single base substitution C G intron_variant MELA-AU 6 42652763 42652763 single base substitution G A intron_variant MELA-AU 6 42652801 42652801 single base substitution C T intron_variant MELA-AU 6 42653129 42653129 single base substitution T C intron_variant MELA-AU 6 42653244 42653244 single base substitution C T intron_variant MELA-AU 6 42653752 42653752 single base substitution C T intron_variant MELA-AU 6 42654268 42654268 single base substitution C T intron_variant MELA-AU 6 42654395 42654395 single base substitution G A intron_variant MELA-AU 6 42654416 42654416 single base substitution C T intron_variant MELA-AU 6 42654500 42654500 single base substitution C T intron_variant MELA-AU 6 42655186 42655186 single base substitution C T intron_variant MELA-AU 6 42655267 42655267 insertion of <=200bp - TTTA intron_variant MELA-AU 6 42656026 42656026 single base substitution C T 3_prime_UTR_variant MELA-AU 6 42656026 42656026 single base substitution C T synonymous_variant S1642S 4926C>T MELA-AU 6 42656088 42656088 single base substitution C T 3_prime_UTR_variant MELA-AU 6 42656088 42656088 single base substitution C T missense_variant T1663I 4988C>T MELA-AU 6 42656402 42656402 single base substitution C T intron_variant MELA-AU 6 42656730 42656730 single base substitution C T intron_variant MELA-AU 6 42657409 42657409 single base substitution G A splice_donor_variant MELA-AU 6 42657453 42657453 single base substitution C T intron_variant MELA-AU 6 42658004 42658004 single base substitution G A intron_variant MELA-AU 6 42658516 42658516 single base substitution C T intron_variant MELA-AU 6 42658781 42658781 single base substitution C T 3_prime_UTR_variant MELA-AU 6 42658781 42658781 single base substitution C T missense_variant P1713L 5138C>T MELA-AU 6 42658961 42658961 single base substitution C T 3_prime_UTR_variant MELA-AU 6 42659493 42659493 single base substitution C T 3_prime_UTR_variant MELA-AU 6 42659493 42659493 single base substitution C T downstream_gene_variant MELA-AU 6 42659538 42659538 single base substitution T C 3_prime_UTR_variant MELA-AU 6 42659538 42659538 single base substitution T C downstream_gene_variant MELA-AU 6 42660361 42660361 single base substitution C T 3_prime_UTR_variant MELA-AU 6 42660361 42660361 single base substitution C T downstream_gene_variant MELA-AU 6 42662225 42662226 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 6 42662462 42662462 single base substitution C T downstream_gene_variant MELA-AU 6 42662894 42662895 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 6 42662947 42662947 single base substitution C T downstream_gene_variant MELA-AU 6 42663041 42663041 single base substitution C T downstream_gene_variant MELA-AU 6 42663617 42663617 single base substitution C T downstream_gene_variant MELA-AU 6 42663653 42663653 single base substitution C T downstream_gene_variant MELA-AU 6 42663768 42663768 single base substitution C T downstream_gene_variant MELA-AU 6 42663990 42663990 single base substitution C T downstream_gene_variant MELA-AU 6 42664072 42664072 single base substitution C T downstream_gene_variant MELA-AU 6 42664156 42664156 single base substitution C T downstream_gene_variant MELA-AU 6 42664897 42664897 single base substitution C T downstream_gene_variant MELA-AU 6 42665189 42665189 single base substitution T C downstream_gene_variant MELA-AU 6 42665419 42665419 single base substitution C T downstream_gene_variant MELA-AU 6 42665480 42665480 single base substitution C T downstream_gene_variant MELA-AU 6 42666025 42666025 single base substitution C T downstream_gene_variant ORCA-IN 6 42532018 42532018 single base substitution C T 5_prime_UTR_variant ORCA-IN 6 42532868 42532868 single base substitution G A intron_variant ORCA-IN 6 42532998 42532998 single base substitution G A intron_variant ORCA-IN 6 42565488 42565488 single base substitution C G intron_variant ORCA-IN 6 42566122 42566122 single base substitution G C intron_variant ORCA-IN 6 42582165 42582165 single base substitution T C intron_variant ORCA-IN 6 42582165 42582165 single base substitution T C upstream_gene_variant ORCA-IN 6 42596024 42596024 deletion of <=200bp C - intron_variant ORCA-IN 6 42599984 42599984 single base substitution C G intron_variant ORCA-IN 6 42609392 42609392 single base substitution G A missense_variant G169R 505G>A ORCA-IN 6 42609392 42609392 single base substitution G A missense_variant G665R 1993G>A ORCA-IN 6 42642256 42642256 single base substitution C G intron_variant ORCA-IN 6 42658863 42658863 single base substitution A T 3_prime_UTR_variant ORCA-IN 6 42658863 42658863 single base substitution A T synonymous_variant A1740A 5220A>T ORCA-IN 6 42663145 42663145 single base substitution G A downstream_gene_variant OV-AU 6 42528510 42528510 single base substitution A G upstream_gene_variant OV-AU 6 42532892 42532892 single base substitution A C intron_variant OV-AU 6 42535687 42535687 single base substitution A T intron_variant OV-AU 6 42542561 42542561 single base substitution C G intron_variant OV-AU 6 42560395 42560395 single base substitution G A intron_variant OV-AU 6 42564872 42564872 single base substitution G T intron_variant OV-AU 6 42574071 42574071 single base substitution A C intron_variant OV-AU 6 42576079 42576079 single base substitution G A intron_variant OV-AU 6 42582701 42582701 single base substitution T A intron_variant OV-AU 6 42582701 42582701 single base substitution T A upstream_gene_variant OV-AU 6 42584263 42584263 single base substitution G A intron_variant OV-AU 6 42584263 42584263 single base substitution G A upstream_gene_variant OV-AU 6 42589097 42589097 single base substitution T A downstream_gene_variant OV-AU 6 42589097 42589097 single base substitution T A intron_variant OV-AU 6 42595602 42595602 single base substitution T A intron_variant OV-AU 6 42596000 42596000 single base substitution T G intron_variant OV-AU 6 42597715 42597715 single base substitution G A intron_variant OV-AU 6 42606522 42606522 single base substitution G T intron_variant OV-AU 6 42613376 42613376 single base substitution C A intron_variant OV-AU 6 42619428 42619428 single base substitution C T intron_variant OV-AU 6 42640313 42640313 single base substitution C T intron_variant OV-AU 6 42648833 42648833 single base substitution G A intron_variant OV-AU 6 42651041 42651041 single base substitution C G intron_variant OV-AU 6 42653674 42653674 single base substitution C T intron_variant OV-AU 6 42662576 42662576 single base substitution G C downstream_gene_variant OV-AU 6 42664238 42664238 single base substitution A C downstream_gene_variant OV-AU 6 42666208 42666208 single base substitution G C downstream_gene_variant OV-US 6 42573531 42573531 single base substitution T C synonymous_variant T245T 735T>C PACA-AU 6 42528067 42528067 single base substitution G C upstream_gene_variant PACA-AU 6 42531977 42531977 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 6 42540339 42540339 single base substitution G A intron_variant PACA-AU 6 42542878 42542878 single base substitution T G intron_variant PACA-AU 6 42550740 42550740 single base substitution T C intron_variant PACA-AU 6 42567800 42567800 single base substitution T G intron_variant PACA-AU 6 42568253 42568253 single base substitution A G intron_variant PACA-AU 6 42568489 42568489 single base substitution G A intron_variant PACA-AU 6 42569382 42569387 deletion of <=200bp TGCCAT - intron_variant PACA-AU 6 42579959 42579959 single base substitution G A synonymous_variant S305S 915G>A PACA-AU 6 42579959 42579959 single base substitution G A upstream_gene_variant PACA-AU 6 42580223 42580223 single base substitution T C intron_variant PACA-AU 6 42580223 42580223 single base substitution T C upstream_gene_variant PACA-AU 6 42582638 42582638 single base substitution T G intron_variant PACA-AU 6 42582638 42582638 single base substitution T G upstream_gene_variant PACA-AU 6 42585026 42585026 single base substitution G A intron_variant PACA-AU 6 42585026 42585026 single base substitution G A missense_variant A411T 1231G>A PACA-AU 6 42585840 42585840 single base substitution A G intron_variant PACA-AU 6 42589141 42589141 single base substitution A T downstream_gene_variant PACA-AU 6 42589141 42589141 single base substitution A T intron_variant PACA-AU 6 42591230 42591230 single base substitution C T downstream_gene_variant PACA-AU 6 42591230 42591230 single base substitution C T intron_variant PACA-AU 6 42593559 42593559 single base substitution T C intron_variant PACA-AU 6 42594175 42594175 single base substitution G A intron_variant PACA-AU 6 42599312 42599312 deletion of <=200bp T - intron_variant PACA-AU 6 42599803 42599803 single base substitution A T intron_variant PACA-AU 6 42601446 42601446 single base substitution T G intron_variant PACA-AU 6 42606189 42606189 single base substitution A G intron_variant PACA-AU 6 42611949 42611949 single base substitution A C splice_region_variant PACA-AU 6 42614393 42614393 deletion of <=200bp C - intron_variant PACA-AU 6 42615820 42615820 single base substitution A G intron_variant PACA-AU 6 42621152 42621152 single base substitution G T intron_variant PACA-AU 6 42625629 42625629 single base substitution C G intron_variant PACA-AU 6 42626148 42626151 deletion of <=200bp ACTC - intron_variant PACA-AU 6 42630440 42630440 single base substitution C T intron_variant PACA-AU 6 42638505 42638505 single base substitution G A intron_variant PACA-AU 6 42639368 42639368 single base substitution A T intron_variant PACA-AU 6 42639495 42639495 single base substitution C T intron_variant PACA-AU 6 42643564 42643564 single base substitution G A intron_variant PACA-AU 6 42645498 42645498 single base substitution G C intron_variant PACA-AU 6 42648509 42648509 single base substitution A T intron_variant PACA-AU 6 42653415 42653415 single base substitution G T intron_variant PACA-AU 6 42653416 42653416 single base substitution G T intron_variant PACA-AU 6 42659600 42659600 single base substitution G A 3_prime_UTR_variant PACA-AU 6 42659600 42659600 single base substitution G A downstream_gene_variant PACA-AU 6 42665349 42665349 single base substitution G T downstream_gene_variant PACA-AU 6 42665351 42665351 single base substitution G A downstream_gene_variant PACA-AU 6 42665393 42665393 single base substitution G A downstream_gene_variant PACA-CA 6 42529017 42529017 single base substitution C T upstream_gene_variant PACA-CA 6 42530041 42530041 single base substitution A T upstream_gene_variant PACA-CA 6 42530527 42530527 deletion of <=200bp A - upstream_gene_variant PACA-CA 6 42531758 42531758 single base substitution C T upstream_gene_variant PACA-CA 6 42534018 42534018 single base substitution C T intron_variant PACA-CA 6 42536203 42536203 single base substitution C T intron_variant PACA-CA 6 42538594 42538594 single base substitution T C intron_variant PACA-CA 6 42547564 42547597 deletion of <=200bp TGAAATTATACTGTGTATATTACACACATATGAA - intron_variant PACA-CA 6 42552230 42552230 single base substitution A G intron_variant PACA-CA 6 42554808 42554808 single base substitution T C intron_variant PACA-CA 6 42556036 42556036 single base substitution C G intron_variant PACA-CA 6 42558022 42558022 single base substitution T A intron_variant PACA-CA 6 42559903 42559903 single base substitution A G missense_variant D118G 353A>G PACA-CA 6 42572782 42572782 insertion of <=200bp - A intron_variant PACA-CA 6 42584227 42584227 single base substitution T A intron_variant PACA-CA 6 42584227 42584227 single base substitution T A upstream_gene_variant PACA-CA 6 42588295 42588295 single base substitution A G downstream_gene_variant PACA-CA 6 42588295 42588295 single base substitution A G intron_variant PACA-CA 6 42590517 42590517 single base substitution G T downstream_gene_variant PACA-CA 6 42590517 42590517 single base substitution G T intron_variant PACA-CA 6 42591020 42591020 single base substitution T G downstream_gene_variant PACA-CA 6 42591020 42591020 single base substitution T G intron_variant PACA-CA 6 42596013 42596013 single base substitution T A intron_variant PACA-CA 6 42596747 42596747 insertion of <=200bp - T intron_variant PACA-CA 6 42596749 42596749 single base substitution T A intron_variant PACA-CA 6 42597961 42597961 single base substitution C T intron_variant PACA-CA 6 42599091 42599091 single base substitution G C intron_variant PACA-CA 6 42599201 42599201 single base substitution T C intron_variant PACA-CA 6 42604548 42604548 single base substitution A G intron_variant PACA-CA 6 42613229 42613229 single base substitution A G synonymous_variant G274G 822A>G PACA-CA 6 42613229 42613229 single base substitution A G synonymous_variant G770G 2310A>G PACA-CA 6 42614560 42614560 single base substitution G T intron_variant PACA-CA 6 42617080 42617080 deletion of <=200bp G - intron_variant PACA-CA 6 42621794 42621794 single base substitution C T intron_variant PACA-CA 6 42623461 42623461 single base substitution A G missense_variant K462E 1384A>G PACA-CA 6 42623461 42623461 single base substitution A G missense_variant K958E 2872A>G PACA-CA 6 42624331 42624331 single base substitution A G intron_variant PACA-CA 6 42626414 42626414 single base substitution A T stop_gained K1032* 3094A>T PACA-CA 6 42626414 42626414 single base substitution A T synonymous_variant G539G 1617A>T PACA-CA 6 42628306 42628306 single base substitution G A intron_variant PACA-CA 6 42634070 42634070 single base substitution G T intron_variant PACA-CA 6 42635009 42635009 single base substitution G A intron_variant PACA-CA 6 42637913 42637913 single base substitution A G 3_prime_UTR_variant PACA-CA 6 42637913 42637913 single base substitution A G missense_variant N1322S 3965A>G PACA-CA 6 42638337 42638337 single base substitution A G intron_variant PACA-CA 6 42638464 42638464 single base substitution A G intron_variant PACA-CA 6 42641080 42641080 single base substitution G C intron_variant PACA-CA 6 42645825 42645825 single base substitution A G intron_variant PACA-CA 6 42650179 42650181 deletion of <=200bp ATT - intron_variant PACA-CA 6 42650180 42650180 single base substitution T A intron_variant PACA-CA 6 42652364 42652364 single base substitution A C intron_variant PACA-CA 6 42652637 42652637 single base substitution T C intron_variant PACA-CA 6 42652931 42652931 single base substitution C T intron_variant PACA-CA 6 42653402 42653402 single base substitution C G intron_variant PACA-CA 6 42657221 42657221 single base substitution C T intron_variant PACA-CA 6 42659229 42659229 single base substitution G A 3_prime_UTR_variant PACA-CA 6 42659229 42659229 single base substitution G A downstream_gene_variant PACA-CA 6 42660376 42660376 single base substitution C T 3_prime_UTR_variant PACA-CA 6 42660376 42660376 single base substitution C T downstream_gene_variant PACA-CA 6 42660799 42660799 single base substitution A T 3_prime_UTR_variant PACA-CA 6 42660799 42660799 single base substitution A T downstream_gene_variant PACA-CA 6 42661641 42661641 single base substitution C T downstream_gene_variant PAEN-AU 6 42526859 42526859 single base substitution G C upstream_gene_variant PAEN-AU 6 42574928 42574928 single base substitution T C intron_variant PAEN-AU 6 42592010 42592010 single base substitution G T downstream_gene_variant PAEN-AU 6 42592010 42592010 single base substitution G T intron_variant PAEN-AU 6 42619818 42619818 single base substitution A C intron_variant PAEN-AU 6 42659534 42659534 single base substitution T C 3_prime_UTR_variant PAEN-AU 6 42659534 42659534 single base substitution T C downstream_gene_variant PAEN-IT 6 42529249 42529249 single base substitution C A upstream_gene_variant PAEN-IT 6 42553302 42553302 single base substitution C G intron_variant PBCA-DE 6 42542731 42542731 single base substitution C T intron_variant PBCA-DE 6 42544660 42544660 single base substitution C T intron_variant PBCA-DE 6 42566067 42566067 deletion of <=200bp A - intron_variant PBCA-DE 6 42570346 42570347 deletion of <=200bp TG - intron_variant PBCA-DE 6 42571770 42571770 single base substitution G T intron_variant PBCA-DE 6 42582098 42582098 single base substitution A G intron_variant PBCA-DE 6 42582098 42582098 single base substitution A G upstream_gene_variant PBCA-DE 6 42597241 42597241 single base substitution A C intron_variant PBCA-DE 6 42604196 42604196 single base substitution C T intron_variant PBCA-DE 6 42606439 42606439 single base substitution C T intron_variant PBCA-DE 6 42607427 42607427 single base substitution G T intron_variant PBCA-DE 6 42608239 42608239 single base substitution G A intron_variant PBCA-DE 6 42614562 42614562 single base substitution G T intron_variant PBCA-DE 6 42627485 42627485 deletion of <=200bp C - 3_prime_UTR_variant PBCA-DE 6 42627485 42627485 deletion of <=200bp C - frameshift_variant Q1112 PBCA-DE 6 42630690 42630690 single base substitution C A intron_variant PBCA-DE 6 42641822 42641822 single base substitution G A intron_variant PBCA-DE 6 42655266 42655266 deletion of <=200bp T - intron_variant PRAD-CA 6 42534475 42534475 single base substitution C T intron_variant PRAD-CA 6 42552733 42552733 single base substitution T C intron_variant PRAD-CA 6 42571915 42571915 single base substitution A G intron_variant PRAD-CA 6 42599807 42599807 single base substitution A T intron_variant PRAD-CA 6 42601848 42601848 single base substitution G A intron_variant PRAD-CA 6 42609574 42609574 single base substitution C G intron_variant PRAD-CA 6 42614564 42614564 single base substitution G T intron_variant PRAD-CA 6 42659533 42659533 single base substitution C T 3_prime_UTR_variant PRAD-CA 6 42659533 42659533 single base substitution C T downstream_gene_variant PRAD-CA 6 42665724 42665724 single base substitution A G downstream_gene_variant PRAD-UK 6 42529271 42529271 single base substitution T A upstream_gene_variant PRAD-UK 6 42530481 42530481 single base substitution C G upstream_gene_variant PRAD-UK 6 42536164 42536164 deletion of <=200bp T - intron_variant PRAD-UK 6 42539568 42539568 single base substitution C G intron_variant PRAD-UK 6 42560414 42560414 single base substitution C G intron_variant PRAD-UK 6 42562302 42562302 single base substitution A T intron_variant PRAD-UK 6 42564694 42564694 single base substitution T A intron_variant PRAD-UK 6 42567265 42567265 single base substitution A G intron_variant PRAD-UK 6 42575830 42575830 single base substitution C T intron_variant PRAD-UK 6 42595371 42595371 single base substitution G T intron_variant PRAD-UK 6 42601271 42601271 single base substitution G A intron_variant PRAD-UK 6 42633832 42633984 deletion of <=200bp TTGACCTATATGGCTGTACTTTTAGGAATATTGTCATCTATTGAATAATAGTATAAAATGCCTGTTTCTATAGATAATGCCTCTACAAAGAATTCAGAAAATGTGGATGAATTACAGCTCCCTGAAGGGTTCAGGCCTGATTTTCGTCCTAAG - exon_loss_variant PRAD-UK 6 42648665 42648665 single base substitution G A intron_variant PRAD-UK 6 42649671 42649671 single base substitution G T intron_variant PRAD-UK 6 42660672 42660672 single base substitution C T 3_prime_UTR_variant PRAD-UK 6 42660672 42660672 single base substitution C T downstream_gene_variant PRAD-UK 6 42664294 42664294 single base substitution T C downstream_gene_variant PRAD-US 6 42609419 42609427 deletion of <=200bp CTAGTAAAC - inframe_deletion LVN178 PRAD-US 6 42609419 42609427 deletion of <=200bp CTAGTAAAC - inframe_deletion LVN674 PRAD-US 6 42657359 42657359 single base substitution T G 3_prime_UTR_variant PRAD-US 6 42657359 42657359 single base substitution T G missense_variant Y1693D 5077T>G READ-US 6 42571393 42571393 single base substitution G A missense_variant R200Q 599G>A READ-US 6 42612253 42612253 single base substitution T C missense_variant Y259H 775T>C READ-US 6 42612253 42612253 single base substitution T C missense_variant Y755H 2263T>C READ-US 6 42646397 42646397 single base substitution C T 3_prime_UTR_variant READ-US 6 42646397 42646397 single base substitution C T synonymous_variant P1533P 4599C>T READ-US 6 42647492 42647492 single base substitution G C 3_prime_UTR_variant READ-US 6 42647492 42647492 single base substitution G C missense_variant C1547S 4640G>C READ-US 6 42666111 42666111 single base substitution C A downstream_gene_variant RECA-EU 6 42535831 42535831 single base substitution G T intron_variant RECA-EU 6 42538143 42538143 single base substitution G A intron_variant RECA-EU 6 42550308 42550308 single base substitution A G intron_variant RECA-EU 6 42554935 42554935 single base substitution A G intron_variant RECA-EU 6 42566782 42566782 single base substitution C G intron_variant RECA-EU 6 42572543 42572543 single base substitution T C intron_variant RECA-EU 6 42572665 42572665 single base substitution T C intron_variant RECA-EU 6 42592493 42592493 single base substitution C A downstream_gene_variant RECA-EU 6 42592493 42592493 single base substitution C A intron_variant RECA-EU 6 42596556 42596556 single base substitution C A intron_variant RECA-EU 6 42599019 42599019 single base substitution A T intron_variant RECA-EU 6 42607690 42607690 single base substitution C T intron_variant RECA-EU 6 42620348 42620348 single base substitution A G missense_variant N416D 1246A>G RECA-EU 6 42620348 42620348 single base substitution A G missense_variant N912D 2734A>G RECA-EU 6 42628712 42628712 single base substitution T C intron_variant RECA-EU 6 42637540 42637540 single base substitution A G intron_variant RECA-EU 6 42658313 42658313 single base substitution T C intron_variant SKCA-BR 6 42527728 42527728 single base substitution C T upstream_gene_variant SKCA-BR 6 42528715 42528715 single base substitution C T upstream_gene_variant SKCA-BR 6 42528995 42528995 single base substitution G A upstream_gene_variant SKCA-BR 6 42531039 42531039 single base substitution C T upstream_gene_variant SKCA-BR 6 42531638 42531638 single base substitution G A upstream_gene_variant SKCA-BR 6 42534935 42534938 deletion of <=200bp AAGG - intron_variant SKCA-BR 6 42536293 42536293 single base substitution C T intron_variant SKCA-BR 6 42539662 42539662 single base substitution C T intron_variant SKCA-BR 6 42542961 42542961 single base substitution C T intron_variant SKCA-BR 6 42546710 42546712 deletion of <=200bp AAC - intron_variant SKCA-BR 6 42546710 42546716 deletion of <=200bp AACACAC - intron_variant SKCA-BR 6 42550040 42550042 deletion of <=200bp AAC - intron_variant SKCA-BR 6 42550041 42550042 deletion of <=200bp AC - intron_variant SKCA-BR 6 42554297 42554297 single base substitution G T intron_variant SKCA-BR 6 42554362 42554362 single base substitution C T intron_variant SKCA-BR 6 42557274 42557274 single base substitution C T intron_variant SKCA-BR 6 42559374 42559374 single base substitution C T intron_variant SKCA-BR 6 42559628 42559628 single base substitution C T intron_variant SKCA-BR 6 42563346 42563346 single base substitution T G intron_variant SKCA-BR 6 42570138 42570138 single base substitution C T intron_variant SKCA-BR 6 42571696 42571696 single base substitution T C intron_variant SKCA-BR 6 42578890 42578890 insertion of <=200bp - TAA intron_variant SKCA-BR 6 42579652 42579652 insertion of <=200bp - GAA intron_variant SKCA-BR 6 42579652 42579652 insertion of <=200bp - GA intron_variant SKCA-BR 6 42581978 42581978 single base substitution A C intron_variant SKCA-BR 6 42581978 42581978 single base substitution A C upstream_gene_variant SKCA-BR 6 42582731 42582731 single base substitution C T intron_variant SKCA-BR 6 42582731 42582731 single base substitution C T upstream_gene_variant SKCA-BR 6 42582914 42582914 single base substitution A T missense_variant K364I 1091A>T SKCA-BR 6 42582914 42582914 single base substitution A T upstream_gene_variant SKCA-BR 6 42583491 42583491 insertion of <=200bp - ATCTCTTT intron_variant SKCA-BR 6 42583491 42583491 insertion of <=200bp - ATCTCTTT upstream_gene_variant SKCA-BR 6 42586636 42586636 single base substitution C T intron_variant SKCA-BR 6 42587566 42587566 single base substitution C T 3_prime_UTR_variant SKCA-BR 6 42587566 42587566 single base substitution C T intron_variant SKCA-BR 6 42587891 42587891 single base substitution T A 3_prime_UTR_variant SKCA-BR 6 42587891 42587891 single base substitution T A intron_variant SKCA-BR 6 42588202 42588202 single base substitution C T downstream_gene_variant SKCA-BR 6 42588202 42588202 single base substitution C T intron_variant SKCA-BR 6 42588226 42588226 insertion of <=200bp - TG downstream_gene_variant SKCA-BR 6 42588226 42588226 insertion of <=200bp - TG intron_variant SKCA-BR 6 42591881 42591882 deletion of <=200bp GT - downstream_gene_variant SKCA-BR 6 42591881 42591882 deletion of <=200bp GT - intron_variant SKCA-BR 6 42593552 42593552 single base substitution C T intron_variant SKCA-BR 6 42595047 42595047 single base substitution A C intron_variant SKCA-BR 6 42597871 42597871 insertion of <=200bp - CAGTAGTAGT intron_variant SKCA-BR 6 42598702 42598702 single base substitution A C intron_variant SKCA-BR 6 42598775 42598775 single base substitution C A intron_variant SKCA-BR 6 42599806 42599809 deletion of <=200bp AAAT - intron_variant SKCA-BR 6 42599807 42599807 insertion of <=200bp - AT intron_variant SKCA-BR 6 42599808 42599809 deletion of <=200bp AT - intron_variant SKCA-BR 6 42600696 42600696 insertion of <=200bp - CT intron_variant SKCA-BR 6 42600721 42600721 single base substitution C T intron_variant SKCA-BR 6 42600963 42600963 single base substitution A G intron_variant SKCA-BR 6 42601761 42601761 single base substitution G C intron_variant SKCA-BR 6 42602433 42602433 single base substitution T C intron_variant SKCA-BR 6 42603920 42603920 single base substitution G T intron_variant SKCA-BR 6 42607840 42607840 single base substitution C T intron_variant SKCA-BR 6 42608123 42608123 single base substitution T G intron_variant SKCA-BR 6 42610675 42610675 single base substitution A G intron_variant SKCA-BR 6 42617034 42617034 single base substitution A G intron_variant SKCA-BR 6 42626275 42626275 single base substitution G A intron_variant SKCA-BR 6 42627077 42627077 insertion of <=200bp - CA intron_variant SKCA-BR 6 42627211 42627211 single base substitution C T intron_variant SKCA-BR 6 42627256 42627262 deletion of <=200bp TATACAC - intron_variant SKCA-BR 6 42630426 42630426 single base substitution C T intron_variant SKCA-BR 6 42634826 42634826 single base substitution G C intron_variant SKCA-BR 6 42635305 42635305 single base substitution C T intron_variant SKCA-BR 6 42636173 42636173 single base substitution C T intron_variant SKCA-BR 6 42639778 42639779 deletion of <=200bp CT - intron_variant SKCA-BR 6 42648672 42648672 single base substitution C T intron_variant SKCA-BR 6 42648921 42648921 single base substitution G A intron_variant SKCA-BR 6 42652388 42652388 single base substitution C T intron_variant SKCA-BR 6 42652638 42652638 single base substitution C T intron_variant SKCA-BR 6 42653674 42653674 single base substitution C T intron_variant SKCA-BR 6 42654379 42654379 single base substitution C T intron_variant SKCA-BR 6 42656890 42656890 single base substitution A T intron_variant SKCA-BR 6 42657080 42657080 single base substitution G A intron_variant SKCA-BR 6 42661286 42661286 single base substitution A C downstream_gene_variant SKCA-BR 6 42665548 42665548 insertion of <=200bp - TAA downstream_gene_variant SKCA-BR 6 42666008 42666008 single base substitution C T downstream_gene_variant SKCM-US 6 42561953 42561953 single base substitution T G missense_variant F148V 442T>G SKCM-US 6 42571329 42571329 single base substitution C T missense_variant P179S 535C>T SKCM-US 6 42573596 42573596 single base substitution A G missense_variant D267G 800A>G SKCM-US 6 42582840 42582840 single base substitution T C synonymous_variant G339G 1017T>C SKCM-US 6 42582840 42582840 single base substitution T C upstream_gene_variant SKCM-US 6 42585058 42585058 single base substitution C T intron_variant SKCM-US 6 42585058 42585058 single base substitution C T synonymous_variant F421F 1263C>T SKCM-US 6 42603282 42603282 single base substitution G T missense_variant D558Y 1672G>T SKCM-US 6 42603282 42603282 single base substitution G T missense_variant D62Y 184G>T SKCM-US 6 42613219 42613219 single base substitution C T missense_variant P271L 812C>T SKCM-US 6 42613219 42613219 single base substitution C T missense_variant P767L 2300C>T SKCM-US 6 42613322 42613322 single base substitution T G synonymous_variant P305P 915T>G SKCM-US 6 42613322 42613322 single base substitution T G synonymous_variant P801P 2403T>G SKCM-US 6 42615888 42615888 single base substitution C T synonymous_variant I318I 954C>T SKCM-US 6 42615888 42615888 single base substitution C T synonymous_variant I814I 2442C>T SKCM-US 6 42625842 42625842 single base substitution C T missense_variant H489Y 1465C>T SKCM-US 6 42625842 42625842 single base substitution C T missense_variant H985Y 2953C>T SKCM-US 6 42627584 42627584 single base substitution C T 3_prime_UTR_variant SKCM-US 6 42627584 42627584 single base substitution C T stop_gained Q1145* 3433C>T SKCM-US 6 42631091 42631091 single base substitution C T 3_prime_UTR_variant SKCM-US 6 42631091 42631091 single base substitution C T missense_variant P1211L 3632C>T SKCM-US 6 42633953 42633953 single base substitution C T 3_prime_UTR_variant SKCM-US 6 42633953 42633953 single base substitution C T missense_variant P1284L 3851C>T SKCM-US 6 42637833 42637833 single base substitution C T 3_prime_UTR_variant SKCM-US 6 42637833 42637833 single base substitution C T synonymous_variant I1295I 3885C>T SKCM-US 6 42637845 42637845 single base substitution G A 3_prime_UTR_variant SKCM-US 6 42637845 42637845 single base substitution G A synonymous_variant E1299E 3897G>A SKCM-US 6 42641897 42641897 single base substitution C T 3_prime_UTR_variant SKCM-US 6 42641897 42641897 single base substitution C T missense_variant P1406L 4217C>T SKCM-US 6 42643851 42643851 single base substitution C T intron_variant SKCM-US 6 42643851 42643851 single base substitution C T missense_variant L1437F 4309C>T SKCM-US 6 42643911 42643911 single base substitution T C intron_variant SKCM-US 6 42643911 42643911 single base substitution T C synonymous_variant L1457L 4369T>C SKCM-US 6 42647465 42647465 single base substitution C T 3_prime_UTR_variant SKCM-US 6 42647465 42647465 single base substitution C T missense_variant P1538L 4613C>T SKCM-US 6 42656116 42656116 single base substitution C T 3_prime_UTR_variant SKCM-US 6 42656116 42656116 single base substitution C T synonymous_variant I1672I 5016C>T SKCM-US 6 42657358 42657358 single base substitution T G 3_prime_UTR_variant SKCM-US 6 42657358 42657358 single base substitution T G missense_variant F1692L 5076T>G SKCM-US 6 42666149 42666149 single base substitution C T downstream_gene_variant SKCM-US 6 42666229 42666229 single base substitution C T downstream_gene_variant STAD-US 6 42562022 42562061 deletion of <=200bp TCTGAAATTGAGGAAGAAGAGGTAAAAACATTTTCACAAA - splice_donor_variant STAD-US 6 42562040 42562040 single base substitution G T stop_gained E177* 529G>T STAD-US 6 42585024 42585024 single base substitution G A intron_variant STAD-US 6 42585024 42585024 single base substitution G A missense_variant R410Q 1229G>A STAD-US 6 42603281 42603281 single base substitution A G synonymous_variant S557S 1671A>G STAD-US 6 42603281 42603281 single base substitution A G synonymous_variant S61S 183A>G STAD-US 6 42612227 42612227 single base substitution A C missense_variant N250T 749A>C STAD-US 6 42612227 42612227 single base substitution A C missense_variant N746T 2237A>C STAD-US 6 42620271 42620271 single base substitution C G missense_variant A390G 1169C>G STAD-US 6 42620271 42620271 single base substitution C G missense_variant A886G 2657C>G STAD-US 6 42625808 42625808 single base substitution G A synonymous_variant L477L 1431G>A STAD-US 6 42625808 42625808 single base substitution G A synonymous_variant L973L 2919G>A STAD-US 6 42633221 42633221 single base substitution A G 3_prime_UTR_variant STAD-US 6 42633221 42633221 single base substitution A G missense_variant Q1258R 3773A>G STAD-US 6 42641611 42641611 deletion of <=200bp G - 3_prime_UTR_variant STAD-US 6 42641611 42641611 deletion of <=200bp G - frameshift_variant C1390 STAD-US 6 42641876 42641876 single base substitution A C 3_prime_UTR_variant STAD-US 6 42641876 42641876 single base substitution A C missense_variant N1399T 4196A>C STAD-US 6 42643810 42643810 single base substitution C T intron_variant STAD-US 6 42643810 42643810 single base substitution C T missense_variant A1423V 4268C>T STAD-US 6 42647508 42647508 single base substitution A G 3_prime_UTR_variant STAD-US 6 42647508 42647508 single base substitution A G synonymous_variant L1552L 4656A>G STAD-US 6 42650804 42650804 single base substitution A G 3_prime_UTR_variant STAD-US 6 42650804 42650804 single base substitution A G missense_variant N1577S 4730A>G STAD-US 6 42666207 42666207 single base substitution C T downstream_gene_variant STAD-US 6 42666224 42666224 single base substitution G A downstream_gene_variant THCA-SA 6 42571346 42571346 single base substitution A T synonymous_variant S184S 552A>T THCA-SA 6 42665032 42665032 single base substitution G T downstream_gene_variant THCA-SA 6 42665135 42665135 single base substitution G T downstream_gene_variant UCEC-US 6 42541552 42541552 single base substitution T C synonymous_variant G53G 159T>C UCEC-US 6 42573592 42573592 single base substitution C T stop_gained R266* 796C>T UCEC-US 6 42582821 42582821 single base substitution G A missense_variant R333Q 998G>A UCEC-US 6 42582821 42582821 single base substitution G A upstream_gene_variant UCEC-US 6 42583818 42583818 single base substitution G C missense_variant R391P 1172G>C UCEC-US 6 42583818 42583818 single base substitution G C upstream_gene_variant UCEC-US 6 42584982 42584982 single base substitution A G intron_variant UCEC-US 6 42584982 42584982 single base substitution A G missense_variant Y396C 1187A>G UCEC-US 6 42584989 42584989 single base substitution G A intron_variant UCEC-US 6 42584989 42584989 single base substitution G A synonymous_variant Q398Q 1194G>A UCEC-US 6 42585058 42585058 single base substitution C A intron_variant UCEC-US 6 42585058 42585058 single base substitution C A missense_variant F421L 1263C>A UCEC-US 6 42600342 42600342 single base substitution T G 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 6 42600342 42600342 single base substitution T G missense_variant F445C 1334T>G UCEC-US 6 42600362 42600362 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 6 42600362 42600362 single base substitution C T stop_gained R452* 1354C>T UCEC-US 6 42600364 42600364 single base substitution A G 5_prime_UTR_variant UCEC-US 6 42600364 42600364 single base substitution A G synonymous_variant R452R 1356A>G UCEC-US 6 42604764 42604764 single base substitution G A missense_variant E564K 1690G>A UCEC-US 6 42604764 42604764 single base substitution G A missense_variant E68K 202G>A UCEC-US 6 42604815 42604815 single base substitution A G missense_variant T581A 1741A>G UCEC-US 6 42604815 42604815 single base substitution A G missense_variant T85A 253A>G UCEC-US 6 42607986 42607986 single base substitution A C missense_variant K137T 410A>C UCEC-US 6 42607986 42607986 single base substitution A C missense_variant K633T 1898A>C UCEC-US 6 42626481 42626481 single base substitution G A missense_variant G562S 1684G>A UCEC-US 6 42626481 42626481 single base substitution G A missense_variant R1054Q 3161G>A UCEC-US 6 42633200 42633200 single base substitution C A 3_prime_UTR_variant UCEC-US 6 42633200 42633200 single base substitution C A missense_variant S1251Y 3752C>A UCEC-US 6 42641554 42641554 single base substitution G A 3_prime_UTR_variant UCEC-US 6 42641554 42641554 single base substitution G A missense_variant R1371K 4112G>A UCEC-US 6 42643898 42643898 single base substitution C T intron_variant UCEC-US 6 42643898 42643898 single base substitution C T synonymous_variant H1452H 4356C>T UCEC-US 6 42646299 42646299 single base substitution G A 3_prime_UTR_variant UCEC-US 6 42646299 42646299 single base substitution G A missense_variant G1501S 4501G>A UCEC-US 6 42646397 42646397 single base substitution C T 3_prime_UTR_variant UCEC-US 6 42646397 42646397 single base substitution C T synonymous_variant P1533P 4599C>T UCEC-US 6 42652536 42652536 single base substitution C T 3_prime_UTR_variant UCEC-US 6 42652536 42652536 single base substitution C T missense_variant P1594S 4780C>T UCEC-US 6 42652555 42652555 single base substitution T G 3_prime_UTR_variant UCEC-US 6 42652555 42652555 single base substitution T G stop_gained L1600* 4799T>G UCEC-US 6 42656092 42656092 single base substitution C T 3_prime_UTR_variant UCEC-US 6 42656092 42656092 single base substitution C T synonymous_variant Y1664Y 4992C>T UCEC-US 6 42658785 42658785 single base substitution A G 3_prime_UTR_variant UCEC-US 6 42658785 42658785 single base substitution A G synonymous_variant L1714L 5142A>G UCEC-US 6 42666223 42666223 single base substitution C T downstream_gene_variant UCEC-US 6 42666236 42666236 single base substitution T G downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-C8-A26Y-01 COSM3830542 c.4426G>T p.E1476* Substitution - Nonsense 6:42676821-42676821 + C0043T COSM4155228 c.2734A>G p.N912D Substitution - Missense 6:42652610-42652610 + TCGA-18-4721-01 COSM742947 c.4281G>T p.L1427F Substitution - Missense 6:42676085-42676085 + TCGA-CZ-5456-01 COSM73186 c.4765G>T p.D1589Y Substitution - Missense 6:42683101-42683101 + CSCC-6-T COSM4549982 c.4883G>C p.R1628T Substitution - Missense 6:42688245-42688245 + TCGA-60-2713-01 COSM742951 c.2332A>G p.I778V Substitution - Missense 6:42645513-42645513 + ESCC_31 COSM5627930 c.1455A>T p.L485F Substitution - Missense 6:42632814-42632814 + TCGA-BP-5182-01 COSM484076 c.1349G>A p.R450K Substitution - Missense 6:42632619-42632619 + HCC16 COSM1621661 c.953T>G p.L318W Substitution - Missense 6:42612259-42612259 + sysucc-1317T COSM5450260 c.5C>A p.A2E Substitution - Missense 6:42564324-42564324 + LS174T COSM3079220 c.2577G>A p.A859A Substitution - coding silent 6:42652034-42652034 + TCGA-B5-A0JY-01 COSM1079347 c.4799T>G p.L1600* Substitution - Nonsense 6:42684817-42684817 + 2492726 COSM5724790 c.1560T>G p.I520M Substitution - Missense 6:42635432-42635432 + TCGA-B5-A11S-01 COSM1079329 c.1194G>A p.Q398Q Substitution - coding silent 6:42617251-42617251 + QGP1 COSM596662 c.2272A>G p.I758V Substitution - Missense 6:42644524-42644524 + LUAD-CHTN-MAD08-00104 COSM361280 c.5160A>T p.R1720R Substitution - coding silent 6:42691065-42691065 + LC_S15 COSM1187035 c.4475G>T p.G1492V Substitution - Missense 6:42676870-42676870 + ME030T COSM227012 c.2615-2A>G p.? Unknown 6:42652489-42652489 + TCGA-IR-A3LK-01 COSM4817870 c.1314G>A p.M438I Substitution - Missense 6:42632584-42632584 + PCSI_0083_Pa_P_526 COSM3381593 c.353A>G p.D118G Substitution - Missense 6:42592165-42592165 + SWE-7 COSM1178670 c.1672G>C p.D558H Substitution - Missense 6:42635544-42635544 + LUAD-D01382 COSM337172 c.1756C>T p.P586S Substitution - Missense 6:42637092-42637092 + PCSI_0022_Pa_X COSM3381595 c.2310A>G p.G770G Substitution - coding silent 6:42645491-42645491 + TCGA-BH-A0BZ-01 COSM451473 c.4812A>G p.P1604P Substitution - coding silent 6:42684830-42684830 + HCC60 COSM1621662 c.3875G>A p.R1292H Substitution - Missense 6:42666239-42666239 + 10T COSM3733547 c.2129T>C p.F710S Substitution - Missense 6:42644245-42644245 + 1266T COSM5762778 c.2614+9A>C p.? Unknown 6:42652080-42652080 + TCGA-GN-A266-06 COSM3627402 c.4369T>C p.L1457L Substitution - coding silent 6:42676173-42676173 + 49M COSM5593824 c.2998A>G p.K1000E Substitution - Missense 6:42658255-42658255 + TCGA-B5-A0JY-01 COSM1079346 c.4780C>T p.P1594S Substitution - Missense 6:42684798-42684798 + ME009T COSM223086 c.3665C>T p.P1222L Substitution - Missense 6:42663386-42663386 + TCGA-AZ-4315-01 COSM1444571 c.4786G>A p.E1596K Substitution - Missense 6:42684804-42684804 + TCGA-BR-A4QM-01 COSM3874124 c.2919G>A p.L973L Substitution - coding silent 6:42658070-42658070 + TCGA-BR-6452-01 COSM3874127 c.4196A>C p.N1399T Substitution - Missense 6:42674138-42674138 + LS180 COSM3079220 c.2577G>A p.A859A Substitution - coding silent 6:42652034-42652034 + TCGA-D8-A1XL-01 COSM1487764 c.1269C>T p.T423T Substitution - coding silent 6:42617326-42617326 + T3658 COSM1079338 c.3161G>A p.R1054Q Substitution - Missense 6:42658743-42658743 + NCI-H835 COSM3079224 c.2710A>C p.I904L Substitution - Missense 6:42652586-42652586 + CHC1137T COSM5352339 c.2421_2422ins36 p.E807_T808insC* Insertion - In frame 6:42648129-42648130 + CDGLIV0707A0251_T COSM5041816 c.2548A>T p.R850W Substitution - Missense 6:42650369-42650369 + P-Thy003 COSM5094772 c.3242+3delA p.? Unknown 6:42658827-42658827 + CSCC-27-T COSM1079325 c.796C>T p.R266* Substitution - Nonsense 6:42605854-42605854 + TCGA-IR-A3LK-01 COSM4817652 c.1329G>A p.K443K Substitution - coding silent 6:42632599-42632599 + TCGA-FS-A1ZK-06 COSM3627385 c.1017T>C p.G339G Substitution - coding silent 6:42615102-42615102 + T578 COSM4738814 c.3591A>G p.L1197L Substitution - coding silent 6:42663312-42663312 + TCGA-AP-A0LF-01 COSM1079327 c.1172G>C p.R391P Substitution - Missense 6:42616080-42616080 + LP6007523-DNA_A01 COSM5035839 c.5256G>A p.W1752* Substitution - Nonsense 6:42691161-42691161 + BK0073 COSM4188562 c.1722G>A p.M574I Substitution - Missense 6:42637058-42637058 + sysucc-311T COSM5466860 c.994C>T p.R332C Substitution - Missense 6:42615079-42615079 + SC_9008 COSM5564662 c.5029C>T p.R1677W Substitution - Missense 6:42689573-42689573 + 587222 COSM1231610 c.4510C>A p.L1504M Substitution - Missense 6:42678570-42678570 + C086 COSM5541296 c.4706C>T p.S1569L Substitution - Missense 6:42679820-42679820 + TCGA-BR-6452-01 COSM3874115 c.529G>T p.E177* Substitution - Nonsense 6:42594302-42594302 + TCGA-DZ-6132-01 COSM3994974 c.359C>G p.T120S Substitution - Missense 6:42592171-42592171 + TCGA-A2-A0EQ-01 COSM451471 c.574T>C p.Y192H Substitution - Missense 6:42603630-42603630 + CRC-02T COSM5455500 c.5119G>A p.G1707R Substitution - Missense 6:42689663-42689663 + 2290929 COSM4440055 c.2969G>A p.R990Q Substitution - Missense 6:42658120-42658120 + CSCC-20-T COSM4497175 c.490C>T p.Q164* Substitution - Nonsense 6:42594263-42594263 + HCC39T COSM1621663 c.5135A>G p.N1712S Substitution - Missense 6:42691040-42691040 + CHC1205T COSM4799921 c.3132G>A p.K1044K Substitution - coding silent 6:42658714-42658714 + PA254 COSM1162821 c.2589G>C p.L863F Substitution - Missense 6:42652046-42652046 + TCGA-EP-A3RK-01 COSM4917697 c.2251G>A p.E751K Substitution - Missense 6:42644503-42644503 + YUOTHO COSM5405341 c.3029C>T p.P1010L Substitution - Missense 6:42658286-42658286 + Pat_49_B COSM5870668 c.3736T>C p.W1246R Substitution - Missense 6:42665446-42665446 + PD6750a COSM1637724 c.4021C>T p.Q1341* Substitution - Nonsense 6:42670231-42670231 + TCGA-BH-A18G-01 COSM3830541 c.4187T>C p.L1396P Substitution - Missense 6:42674129-42674129 + T3610 COSM4738813 c.3569G>A p.R1190Q Substitution - Missense 6:42663290-42663290 + ME048T COSM229727 c.2174G>A p.S725N Substitution - Missense 6:42644290-42644290 + TCGA-EE-A2A1-06 COSM3627397 c.3851C>T p.P1284L Substitution - Missense 6:42666215-42666215 + TCGA-B5-A11E-01 COSM1079326 c.998G>A p.R333Q Substitution - Missense 6:42615083-42615083 + 8061178 COSM3394202 c.2098-3A>C p.? Unknown 6:42644211-42644211 + CHC736T COSM4950388 c.4184-1G>T p.? Unknown 6:42674125-42674125 + LUAD-YINHD COSM351415 c.655G>A p.E219K Substitution - Missense 6:42603711-42603711 + B104-0 COSM1754813 c.1597G>C p.E533Q Substitution - Missense 6:42635469-42635469 + TCGA-B0-5692-01 COSM484078 c.2716C>T p.Q906* Substitution - Nonsense 6:42652592-42652592 + TCGA-EK-A2R8-01 COSM4822874 c.4873G>C p.D1625H Substitution - Missense 6:42688235-42688235 + TCGA-BS-A0UF-01 COSM1079330 c.1263C>A p.F421L Substitution - Missense 6:42617320-42617320 + TCGA-AA-3966-01 COSM273433 c.5223G>T p.Q1741H Substitution - Missense 6:42691128-42691128 + 413LT COSM4386160 c.2098-1G>A p.? Unknown 6:42644213-42644213 + TCGA-AM-5820-01 COSM3762086 c.1227G>A p.E409E Substitution - coding silent 6:42617284-42617284 + SJMB020 COSM255637 c.4031-3T>C p.? Unknown 6:42670657-42670657 + TCGA-HU-A4GQ-01 COSM3874128 c.4268C>T p.A1423V Substitution - Missense 6:42676072-42676072 + TCGA-E5-A2PC-01 COSM1312213 c.2937T>G p.A979A Substitution - coding silent 6:42658088-42658088 + YULAPE COSM1697240 c.5128C>G p.R1710G Substitution - Missense 6:42691033-42691033 + TCGA-BH-A0B6-01 COSM3830539 c.3039G>C p.E1013D Substitution - Missense 6:42658296-42658296 + 2334201 COSM324163 c.608T>C p.V203A Substitution - Missense 6:42603664-42603664 + TCGA-AP-A0LM-01 COSM1079349 c.5142A>G p.L1714L Substitution - coding silent 6:42691047-42691047 + HT115 COSM1444563 c.410G>A p.R137Q Substitution - Missense 6:42592222-42592222 + PD9064a COSM5775813 c.4719-1G>T p.? Unknown 6:42683054-42683054 + TCGA-AM-5821-01 COSM3762088 c.3283G>A p.A1095T Substitution - Missense 6:42659696-42659696 + TCGA-EE-A2GN-06 COSM3627390 c.2300C>T p.P767L Substitution - Missense 6:42645481-42645481 + TCGA-KR-A7K7-01 COSM4922818 c.2037T>G p.Y679* Substitution - Nonsense 6:42642421-42642421 + S00472 COSM316339 c.1991C>T p.A664V Substitution - Missense 6:42641652-42641652 + TCGA-EI-6917-01 COSM3430676 c.599G>A p.R200Q Substitution - Missense 6:42603655-42603655 + T2940 COSM4738810 c.3134T>C p.I1045T Substitution - Missense 6:42658716-42658716 + SNUH_G76_S1 COSM3762088 c.3283G>A p.A1095T Substitution - Missense 6:42659696-42659696 + ACINAR09 COSM1734544 c.1712C>T p.A571V Substitution - Missense 6:42637048-42637048 + RK051_C01 COSM1634803 c.2284+8T>G p.? Unknown 6:42644544-42644544 + pfg068T COSM4753730 c.353A>C p.D118A Substitution - Missense 6:42592165-42592165 + LN229 COSM3079259 c.5019C>T p.F1673F Substitution - coding silent 6:42688381-42688381 + TCGA-G2-A2EO-01 COSM1312215 c.4860G>A p.P1620P Substitution - coding silent 6:42688222-42688222 + TCGA-EE-A3J5-06 COSM286251 c.2442C>T p.I814I Substitution - coding silent 6:42648150-42648150 + SNUH_G76_S1 COSM3762087 c.3279C>T p.G1093G Substitution - coding silent 6:42659692-42659692 + sysucc-311T COSM5466866 c.5180T>G p.L1727R Substitution - Missense 6:42691085-42691085 + YUHAM COSM5405339 c.1674+1G>A p.? Unknown 6:42635547-42635547 + ESO-874 COSM1269657 c.1731_1733delTGG p.G579delG Deletion - In frame 6:42637067-42637069 + TCGA-A5-A0GP-01 COSM1079331 c.1334T>G p.F445C Substitution - Missense 6:42632604-42632604 + TCGA-D8-A1JA-01 COSM3830544 c.5124C>T p.L1708L Substitution - coding silent 6:42689668-42689668 + TCGA-BP-4161-01 COSM3366509 c.3195G>T p.Q1065H Substitution - Missense 6:42658777-42658777 + SJMB020 COSM255637 c.4031-3T>C p.? Unknown 6:42670657-42670657 + 587376 COSM1231613 c.3909A>C p.E1303D Substitution - Missense 6:42670119-42670119 + CSCC-31-T COSM4537791 c.2463G>A p.K821K Substitution - coding silent 6:42650284-42650284 + PT50 COSM5937268 c.4612C>T p.P1538S Substitution - Missense 6:42679726-42679726 + HCC161T COSM3747682 c.4819T>C p.Y1607H Substitution - Missense 6:42684837-42684837 + TCGA-AA-A010-01 COSM286251 c.2442C>T p.I814I Substitution - coding silent 6:42648150-42648150 + MOLT-4 COSM1672417 c.3586C>T p.R1196C Substitution - Missense 6:42663307-42663307 + LUAD-RT-S01721 COSM380638 c.3593A>G p.H1198R Substitution - Missense 6:42663314-42663314 + HCC18 COSM3662559 c.2874A>G p.K958K Substitution - coding silent 6:42658025-42658025 + 2521252 COSM5888952 c.161C>T p.P54L Substitution - Missense 6:42573816-42573816 + HX29T COSM3662555 c.54A>C p.E18D Substitution - Missense 6:42564373-42564373 + TCGA-BS-A0UF-01 COSM1079328 c.1187A>G p.Y396C Substitution - Missense 6:42617244-42617244 + PT52 COSM5939625 c.4244A>C p.H1415P Substitution - Missense 6:42674186-42674186 + HCC18T COSM3662559 c.2874A>G p.K958K Substitution - coding silent 6:42658025-42658025 + TCGA-EE-A2GM-06 COSM3627396 c.3632C>T p.P1211L Substitution - Missense 6:42663353-42663353 + 587234 COSM1231614 c.1565G>A p.R522H Substitution - Missense 6:42635437-42635437 + 8044424 COSM3394201 c.1231G>A p.A411T Substitution - Missense 6:42617288-42617288 + TCGA-18-3409-01 COSM742953 c.1555C>T p.P519S Substitution - Missense 6:42635427-42635427 + TCGA-A6-6780-01 COSM3079232 c.3242+3_3242+7delAAAAA p.? Unknown 6:42658827-42658831 + TCGA-BR-4292-01 COSM3874126 c.3773A>G p.Q1258R Substitution - Missense 6:42665483-42665483 + TCGA-UB-A7MB-01 COSM4931314 c.521A>G p.E174G Substitution - Missense 6:42594294-42594294 + TCGA-E9-A1N5-01 COSM1487765 c.1271C>T p.A424V Substitution - Missense 6:42617328-42617328 + 19M COSM3830531 c.2204C>T p.S735F Substitution - Missense 6:42644320-42644320 + T2269 COSM286252 c.3428T>G p.F1143C Substitution - Missense 6:42659841-42659841 + 3608_T COSM3762078 c.45C>T p.S15S Substitution - coding silent 6:42564364-42564364 + OSCC-GB_00870111 COSM4881557 c.1993G>A p.G665R Substitution - Missense 6:42641654-42641654 + TCGA-AX-A0J0-01 COSM1079324 c.159T>C p.G53G Substitution - coding silent 6:42573814-42573814 + TCGA-CA-6717-01 COSM1444567 c.2643C>A p.F881L Substitution - Missense 6:42652519-42652519 + TCGA-D1-A103-01 COSM1079348 c.4992C>T p.Y1664Y Substitution - coding silent 6:42688354-42688354 + TCGA-AA-A010-01 COSM286252 c.3428T>G p.F1143C Substitution - Missense 6:42659841-42659841 + 2492725 COSM5724790 c.1560T>G p.I520M Substitution - Missense 6:42635432-42635432 + TCGA-AM-5820-01 COSM3762084 c.717T>C p.Y239Y Substitution - coding silent 6:42605775-42605775 + S02404 COSM5700898 c.4477A>T p.S1493C Substitution - Missense 6:42676872-42676872 + ME009T COSM223085 c.1441C>T p.L481F Substitution - Missense 6:42632711-42632711 + TCGA-A5-A0GD-01 COSM1079341 c.4118C>T p.A1373V Substitution - Missense 6:42673822-42673822 + CSCC-7-T COSM4490600 c.3664C>T p.P1222S Substitution - Missense 6:42663385-42663385 + sysucc-311T COSM5466862 c.1545+2T>C p.? Unknown 6:42632906-42632906 + TCGA-AM-5821-01 COSM3762082 c.552A>T p.S184S Substitution - coding silent 6:42603608-42603608 + 8033471 COSM3394199 c.915G>A p.S305S Substitution - coding silent 6:42612221-42612221 + RK138_C01 COSM1634801 c.339-1G>T p.? Unknown 6:42592150-42592150 + SW48 COSM3079260 c.5021T>C p.L1674P Substitution - Missense 6:42688383-42688383 + TCGA-EB-A5UN-06 COSM3627403 c.4613C>T p.P1538L Substitution - Missense 6:42679727-42679727 + TCGA-EE-A181-06 COSM3627395 c.3433C>T p.Q1145* Substitution - Nonsense 6:42659846-42659846 + TCGA-CZ-5462-01 COSM484079 c.3997T>A p.W1333R Substitution - Missense 6:42670207-42670207 + 759_T COSM3949239 c.4303A>G p.I1435V Substitution - Missense 6:42676107-42676107 + 438 COSM4434348 c.4388-1G>A p.? Unknown 6:42676782-42676782 + PCSI_0083_Pa_X COSM3381593 c.353A>G p.D118G Substitution - Missense 6:42592165-42592165 + 43T COSM3715546 c.5220A>T p.A1740A Substitution - coding silent 6:42691125-42691125 + PD13307a COSM5773438 c.4588C>T p.P1530S Substitution - Missense 6:42678648-42678648 + TCGA-22-1016-01 COSM742948 c.4100G>T p.R1367M Substitution - Missense 6:42673804-42673804 + TCGA-AA-3558-01 COSM292479 c.1210A>G p.M404V Substitution - Missense 6:42617267-42617267 + TCGA-BH-A18G-01 COSM5218303 c.3410_3411insA p.N1139fs*4 Insertion - Frameshift 6:42659823-42659824 + TCGA-13-1509-01 COSM81878 c.735T>C p.T245T Substitution - coding silent 6:42605793-42605793 + TCGA-D9-A6EC-06 COSM4401462 c.5076T>G p.F1692L Substitution - Missense 6:42689620-42689620 + TCGA-BR-A4QL-01 COSM3874117 c.1229G>A p.R410Q Substitution - Missense 6:42617286-42617286 + TCGA-AP-A059-01 COSM1079335 c.1741A>G p.T581A Substitution - Missense 6:42637077-42637077 + PTC-14C COSM4161199 c.3636T>C p.L1212L Substitution - coding silent 6:42663357-42663357 + TCGA-EE-A3AB-06 COSM3627383 c.800A>G p.D267G Substitution - Missense 6:42605858-42605858 + pfg120T COSM4753746 c.2603G>A p.R868K Substitution - Missense 6:42652060-42652060 + TCGA-DK-A1AC-01 COSM1312212 c.64G>T p.E22* Substitution - Nonsense 6:42564383-42564383 + TCGA-AM-5821-01 COSM3762078 c.45C>T p.S15S Substitution - coding silent 6:42564364-42564364 + TCGA-EB-A41B-01 COSM3627400 c.4217C>T p.P1406L Substitution - Missense 6:42674159-42674159 + TCGA-BH-A42U-01 COSM3830543 c.4444G>T p.A1482S Substitution - Missense 6:42676839-42676839 + 2293779 COSM4608150 c.4853+1G>C p.? Unknown 6:42684872-42684872 + YULAN COSM1697239 c.4652C>T p.S1551F Substitution - Missense 6:42679766-42679766 + SH-0622 COSM5017732 c.1258C>T p.Q420* Substitution - Nonsense 6:42617315-42617315 + HCC16T COSM1621661 c.953T>G p.L318W Substitution - Missense 6:42612259-42612259 + TCGA-23-2645-01 COSM1329680 c.157G>A p.G53S Substitution - Missense 6:42573812-42573812 + PTC-7C COSM4161198 c.1311A>G p.L437L Substitution - coding silent 6:42632581-42632581 + sysucc-311T COSM5466864 c.3184G>T p.E1062* Substitution - Nonsense 6:42658766-42658766 + LC_C18 COSM1187034 c.2555A>T p.E852V Substitution - Missense 6:42650376-42650376 + T3064 COSM4738808 c.2829G>A p.T943T Substitution - coding silent 6:42655680-42655680 + TCGA-AX-A05Z-01 COSM1079325 c.796C>T p.R266* Substitution - Nonsense 6:42605854-42605854 + ME009T COSM223087 c.4757G>A p.G1586D Substitution - Missense 6:42683093-42683093 + TCGA-AX-A0J0-01 COSM1079336 c.1898A>C p.K633T Substitution - Missense 6:42640248-42640248 + TCGA-EE-A2M5-06 COSM3921801 c.2403T>G p.P801P Substitution - coding silent 6:42645584-42645584 + Pa02C COSM84978 c.646G>A p.A216T Substitution - Missense 6:42603702-42603702 + NYU647 COSM4771077 c.5264T>C p.L1755S Substitution - Missense 6:42691169-42691169 + YUPLA COSM5405343 c.3298C>T p.P1100S Substitution - Missense 6:42659711-42659711 + TCGA-AX-A060-01 COSM1079345 c.4599C>T p.P1533P Substitution - coding silent 6:42678659-42678659 + TCGA-BG-A0M7-01 COSM1079340 c.4112G>A p.R1371K Substitution - Missense 6:42673816-42673816 + TCGA-BH-A28O-01 COSM3830533 c.2206G>A p.E736K Substitution - Missense 6:42644322-42644322 + TCGA-EE-A3AE-06 COSM3627399 c.3897G>A p.E1299E Substitution - coding silent 6:42670107-42670107 + S02375 COSM5696660 c.794A>T p.D265V Substitution - Missense 6:42605852-42605852 + TCGA-24-2254-01 COSM73186 c.4765G>T p.D1589Y Substitution - Missense 6:42683101-42683101 + SNU-175 COSM3079157 c.382delT p.L129fs*12 Deletion - Frameshift 6:42592194-42592194 + PT40 COSM5923759 c.107G>A p.R36K Substitution - Missense 6:42573762-42573762 + BN38 COSM1621660 c.907A>G p.M303V Substitution - Missense 6:42612213-42612213 + 587376 COSM1231612 c.598C>T p.R200W Substitution - Missense 6:42603654-42603654 + BN38T COSM1621660 c.907A>G p.M303V Substitution - Missense 6:42612213-42612213 + T368 COSM4738816 c.4284G>A p.Q1428Q Substitution - coding silent 6:42676088-42676088 + TCGA-DD-A11D-01 COSM4938115 c.2608G>C p.D870H Substitution - Missense 6:42652065-42652065 + PT35 COSM5912534 c.2815T>A p.L939I Substitution - Missense 6:42655666-42655666 + TCGA-D5-6930-01 COSM1444563 c.410G>A p.R137Q Substitution - Missense 6:42592222-42592222 + 18195 COSM1312213 c.2937T>G p.A979A Substitution - coding silent 6:42658088-42658088 + TCGA-LP-A7HU-01 COSM3079261 c.5113G>A p.D1705N Substitution - Missense 6:42689657-42689657 + PTC-7C COSM3762084 c.717T>C p.Y239Y Substitution - coding silent 6:42605775-42605775 + TCGA-66-2754-01 COSM742952 c.1629A>G p.K543K Substitution - coding silent 6:42635501-42635501 + TCGA-D1-A17T-01 COSM1079342 c.4169G>T p.C1390F Substitution - Missense 6:42673873-42673873 + TCGA-AP-A056-01 COSM1079334 c.1690G>A p.E564K Substitution - Missense 6:42637026-42637026 + HCT8 COSM4635404 c.4845C>T p.S1615S Substitution - coding silent 6:42684863-42684863 + HCC39 COSM1621663 c.5135A>G p.N1712S Substitution - Missense 6:42691040-42691040 + TCGA-AM-5821-01 COSM3762087 c.3279C>T p.G1093G Substitution - coding silent 6:42659692-42659692 + TCGA-D1-A103-01 COSM1079333 c.1356A>G p.R452R Substitution - coding silent 6:42632626-42632626 + LIM2405 COSM4643093 c.168T>C p.P56P Substitution - coding silent 6:42573823-42573823 + PCSI_0083_Pa_P COSM3381593 c.353A>G p.D118G Substitution - Missense 6:42592165-42592165 + TCGA-BS-A0TA-01 COSM1079343 c.4356C>T p.H1452H Substitution - coding silent 6:42676160-42676160 + T578 COSM4738815 c.4034G>T p.R1345I Substitution - Missense 6:42670663-42670663 + TCGA-CK-5916-01 COSM3079234 c.3242+3_3242+9delAAAAAAA p.? Unknown 6:42658827-42658833 + TCGA-EI-6511-01 COSM1079345 c.4599C>T p.P1533P Substitution - coding silent 6:42678659-42678659 + Pat_27_B COSM5870666 c.2627C>A p.P876Q Substitution - Missense 6:42652503-42652503 + S00022 COSM5656535 c.75delG p.K27fs*16 Deletion - Frameshift 6:42564394-42564394 + DN120FF COSM5799686 c.1564C>T p.R522C Substitution - Missense 6:42635436-42635436 + Pat_49_B COSM5870669 c.3778C>A p.L1260I Substitution - Missense 6:42665488-42665488 + ESCC-207T COSM3941756 c.3754C>G p.Q1252E Substitution - Missense 6:42665464-42665464 + BN50T COSM1621662 c.3875G>A p.R1292H Substitution - Missense 6:42666239-42666239 + sysucc-1370T COSM5472274 c.135T>C p.Y45Y Substitution - coding silent 6:42573790-42573790 + PD5120a COSM3719587 c.3802A>G p.N1268D Substitution - Missense 6:42665512-42665512 + TCGA-EE-A2GC-06 COSM3627401 c.4309C>T p.L1437F Substitution - Missense 6:42676113-42676113 + 0111_CRUK_PC_0111_T1_DNA COSM5421367 c.3803-73_3881+1del153 p.? Unknown 6:42666094-42666246 + OSCC-GB_00430111 COSM3715546 c.5220A>T p.A1740A Substitution - coding silent 6:42691125-42691125 + TCGA-CZ-5982-01 COSM484077 c.1717C>T p.L573L Substitution - coding silent 6:42637053-42637053 + TCGA-D5-6540-01 COSM1444566 c.1992C>T p.A664A Substitution - coding silent 6:42641653-42641653 + RK124_C01 COSM3703003 c.2259G>T p.M753I Substitution - Missense 6:42644511-42644511 + TCGA-AM-5821-01 COSM3762080 c.376G>A p.E126K Substitution - Missense 6:42592188-42592188 + TCGA-AC-A23H-01 COSM3830531 c.2204C>T p.S735F Substitution - Missense 6:42644320-42644320 + SNU-175 COSM3079226 c.2791G>A p.A931T Substitution - Missense 6:42655642-42655642 + LUAD-S01362 COSM346252 c.2539C>T p.H847Y Substitution - Missense 6:42650360-42650360 + T578 COSM4738806 c.1985T>G p.V662G Substitution - Missense 6:42641646-42641646 + TCGA-DY-A1DC-01 COSM1568353 c.2263T>C p.Y755H Substitution - Missense 6:42644515-42644515 + HCC60T COSM1621662 c.3875G>A p.R1292H Substitution - Missense 6:42666239-42666239 + TCGA-G2-A3IE-01 COSM1312214 c.3116G>A p.R1039K Substitution - Missense 6:42658698-42658698 + TCGA-FW-A3R5-06 COSM3921799 c.535C>T p.P179S Substitution - Missense 6:42603591-42603591 + CHC736T COSM4950388 c.4184-1G>T p.? Unknown 6:42674125-42674125 + TCGA-A8-A0A6-01 COSM3830537 c.3018A>C p.S1006S Substitution - coding silent 6:42658275-42658275 + sysucc-1163T COSM5459262 c.1914A>G p.L638L Substitution - coding silent 6:42640264-42640264 + TCGA-D9-A6EC-06 COSM4403460 c.442T>G p.F148V Substitution - Missense 6:42594215-42594215 + S00472 COSM316339 c.1991C>T p.A664V Substitution - Missense 6:42641652-42641652 + QC2-40-T2 COSM4440055 c.2969G>A p.R990Q Substitution - Missense 6:42658120-42658120 + TCGA-A5-A0GH-01 COSM1079338 c.3161G>A p.R1054Q Substitution - Missense 6:42658743-42658743 + TCGA-BR-6452-01 COSM3874129 c.4656A>G p.L1552L Substitution - coding silent 6:42679770-42679770 + TCGA-BR-6706-01 COSM3874120 c.2237A>C p.N746T Substitution - Missense 6:42644489-42644489 + PD13606a COSM5799686 c.1564C>T p.R522C Substitution - Missense 6:42635436-42635436 + B104-0-Tumor COSM1754813 c.1597G>C p.E533Q Substitution - Missense 6:42635469-42635469 + CSCC-31-T COSM4485615 c.2952C>T p.V984V Substitution - coding silent 6:42658103-42658103 + TCGA-DD-A1EK-01 COSM4934339 c.1276A>G p.T426A Substitution - Missense 6:42617333-42617333 + S02385 COSM5698909 c.4956A>G p.E1652E Substitution - coding silent 6:42688318-42688318 + TCGA-QU-A6IM-01 COSM4393150 c.5077T>G p.Y1693D Substitution - Missense 6:42689621-42689621 + PCSI_0294_Pa_P_526 COSM4808690 c.2872A>G p.K958E Substitution - Missense 6:42655723-42655723 + PT16_1 COSM5094772 c.3242+3delA p.? Unknown 6:42658827-42658827 + LUAD-CHTN-3090346 COSM391265 c.4954_4955insA p.G1653fs*47 Insertion - Frameshift 6:42688316-42688317 + TCGA-37-3783-01 COSM742949 c.3606T>C p.D1202D Substitution - coding silent 6:42663327-42663327 + RK288_C01 COSM4780624 c.1328A>T p.K443M Substitution - Missense 6:42632598-42632598 + TCGA-D1-A17Q-01 COSM1079332 c.1354C>T p.R452* Substitution - Nonsense 6:42632624-42632624 + BZ38 COSM5759300 c.1114C>T p.Q372* Substitution - Nonsense 6:42616022-42616022 + TCGA-UC-A7PF-01 COSM1079344 c.4501G>A p.G1501S Substitution - Missense 6:42678561-42678561 + SNUH_G76_S1 COSM3762082 c.552A>T p.S184S Substitution - coding silent 6:42603608-42603608 + TCGA-BT-A2LA-01 COSM1231612 c.598C>T p.R200W Substitution - Missense 6:42603654-42603654 + TCGA-39-5037-01 COSM742950 c.2907A>G p.I969M Substitution - Missense 6:42658058-42658058 + TCGA-F5-6813-01 COSM1568352 c.4640G>C p.C1547S Substitution - Missense 6:42679754-42679754 + 587284 COSM1231611 c.1130G>T p.S377I Substitution - Missense 6:42616038-42616038 + CSCC-16-T COSM4495325 c.4510C>T p.L1504L Substitution - coding silent 6:42678570-42678570 + PT08_2 COSM1697239 c.4652C>T p.S1551F Substitution - Missense 6:42679766-42679766 + T96 COSM4738817 c.5030G>A p.R1677Q Substitution - Missense 6:42689574-42689574 + TCGA-BS-A0TJ-01 COSM1079337 c.2723C>T p.A908V Substitution - Missense 6:42652599-42652599 + TCGA-EE-A3J8-06 COSM3627388 c.1672G>T p.D558Y Substitution - Missense 6:42635544-42635544 + LUAD-S01404 COSM398839 c.31G>T p.A11S Substitution - Missense 6:42564350-42564350 + HCC066T COSM5820959 c.4991A>T p.Y1664F Substitution - Missense 6:42688353-42688353 + TCGA-EE-A3JD-06 COSM4396921 c.5016C>T p.I1672I Substitution - coding silent 6:42688378-42688378 + BN50 COSM1621662 c.3875G>A p.R1292H Substitution - Missense 6:42666239-42666239 + 2492724 COSM5724790 c.1560T>G p.I520M Substitution - Missense 6:42635432-42635432 + 18 COSM3079239 c.3550G>A p.V1184I Substitution - Missense 6:42663271-42663271 + TCGA-D3-A2JL-06 COSM3627387 c.1263C>T p.F421F Substitution - coding silent 6:42617320-42617320 + sysucc-1397T COSM5474944 c.1486C>A p.L496M Substitution - Missense 6:42632845-42632845 + RMS2084 COSM5880910 c.516A>T p.E172D Substitution - Missense 6:42594289-42594289 + TCGA-B0-4811-01 COSM484080 c.4903G>A p.V1635M Substitution - Missense 6:42688265-42688265 + 440 COSM4434470 c.193G>A p.A65T Substitution - Missense 6:42573848-42573848 + CHC1205T COSM4799921 c.3132G>A p.K1044K Substitution - coding silent 6:42658714-42658714 + TCGA-13-1492-01 COSM73185 c.2818G>C p.E940Q Substitution - Missense 6:42655669-42655669 + PTC-28C COSM3762078 c.45C>T p.S15S Substitution - coding silent 6:42564364-42564364 + TCGA-AR-A0TS-01 COSM451472 c.3472G>A p.D1158N Substitution - Missense 6:42662213-42662213 + HCC003T COSM5819632 c.4903G>T p.V1635L Substitution - Missense 6:42688265-42688265 + CDGLIV0704A0200_T COSM5040908 c.4183+2T>C p.? Unknown 6:42673889-42673889 + TCGA-E2-A2P6-01 COSM3830535 c.2750C>T p.S917L Substitution - Missense 6:42652626-42652626 + TCGA-CG-5721-01 COSM3874130 c.4730A>G p.N1577S Substitution - Missense 6:42683066-42683066 + TCGA-D1-A17H-01 COSM1079344 c.4501G>A p.G1501S Substitution - Missense 6:42678561-42678561 + TCGA-D8-A27G-01 COSM3830529 c.8C>G p.S3W Substitution - Missense 6:42564327-42564327 + TCGA-CG-5721-01 COSM3874122 c.2657C>G p.A886G Substitution - Missense 6:42652533-42652533 + TCGA-EE-A2MJ-06 COSM3627398 c.3885C>T p.I1295I Substitution - coding silent 6:42670095-42670095 + 2217236 COSM4169810 c.4342G>A p.V1448I Substitution - Missense 6:42676146-42676146 + PT08_1 COSM1697239 c.4652C>T p.S1551F Substitution - Missense 6:42679766-42679766 + PCSI_0022_Pa_C COSM3381595 c.2310A>G p.G770G Substitution - coding silent 6:42645491-42645491 + TCGA-AX-A05Z-01 COSM1079339 c.3752C>A p.S1251Y Substitution - Missense 6:42665462-42665462 + sysucc-783T COSM5484850 c.531+2T>C p.? Unknown 6:42594306-42594306 + TCGA-ER-A19D-06 COSM3627393 c.2953C>T p.H985Y Substitution - Missense 6:42658104-42658104 + TCGA-BR-6452-01 COSM3874118 c.1671A>G p.S557S Substitution - coding silent 6:42635543-42635543 + ESO-157 COSM1269658 c.5155G>A p.E1719K Substitution - Missense 6:42691060-42691060 + WT030 COSM5351933 c.1547G>T p.G516V Substitution - Missense 6:42635419-42635419 + Pat_24_A COSM5870670 c.5073delT p.Y1693fs*>63 Deletion - Frameshift 6:42689617-42689617 + TCGA-AA-A01Q-01 COSM300127 c.4010C>T p.A1337V Substitution - Missense 6:42670220-42670220 + sysucc-2026T COSM5461050 c.802-10A>G p.? Unknown 6:42606579-42606579 + TCGA-BQ-5891-01 COSM3994976 c.5109G>A p.E1703E Substitution - coding silent 6:42689653-42689653 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.529925 6p21.1 609134

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AAAAAAAAAAAAAC - IntronicDeletion . c.986-878_986-865delAAAAAAAAAAAAAC 6 42581931 CLL A C Missense p.K1028N c.3084A>C 6 42626404 LUAD A C Missense p.N746T c.2237A>C 6 42612227 STAD A G IntronicSNV . c.1281+75A>G 6 42585151 HC A G Missense p.D267G c.800A>G 6 42573596 CM A G Missense p.I758V c.2272A>G 6 42612262 LUAD A G Missense p.I778V c.2332A>G 6 42613251 LUSC A G Missense p.I969M c.2907A>G 6 42625796 LUSC A G Missense p.K779R c.2336A>G 6 42613255 LUAD A G Missense p.M404V c.1210A>G 6 42585005 COREAD A G Missense p.Q1258R c.3773A>G 6 42633221 STAD A G Synonymous p.K543K c.1629A>G 6 42603239 LUSC A G Synonymous p.P1604P c.4812A>G 6 42652568 BRCA - A IntronicInsertion . c.3242+22dupA 6 42626565 COREAD A T Missense p.D359V c.1076A>T 6 42582899 LUAD A T Missense p.K1581I c.4742A>T 6 42650816 LUAD C A Missense p.R1327S c.3979C>A 6 42637927 STAD CC TT Missense p.Q1643* c.4926_4927delinsTT 6 42656026 CM C G Missense p.R1677G c.5029C>G 6 42657311 LUAD C G Nonsense p.S1085* c.3254C>G 6 42627405 LUAD CTAGTAAAC - InFrameDeletion p.L674_N676delLVN c.2021_2029delTAGTAAACC 6 42609419 PRAD C T Missense p.A424V c.1271C>T 6 42585066 BRCA C T Missense p.A664V c.1991C>T 6 42609390 SCLC C T Missense p.H985Y c.2953C>T 6 42625842 CM C T Missense p.L1437F c.4309C>T 6 42643851 CM C T Missense p.L481F c.1441C>T 6 42600449 CM C T Missense p.P1211L c.3632C>T 6 42631091 CM C T Missense p.P1222L c.3665C>T 6 42631124 CM C T Missense p.P1284L c.3851C>T 6 42633953 CM C T Missense p.P586S c.1756C>T 6 42604830 LUAD C T Missense p.P767L c.2300C>T 6 42613219 CM C T Missense p.P959S c.2875C>T 6 42625764 LUAD C T Missense p.R200W c.598C>T 6 42571392 BLCA C T Missense p.S328L c.983C>T 6 42580027 CM C T Missense p.T207I c.620C>T 6 42571414 COREAD C T Nonsense p.Q1145* c.3433C>T 6 42627584 CM C T Synonymous p.F1445F c.4335C>T 6 42643877 CM C T Synonymous p.F421F c.1263C>T 6 42585058 CM C T Synonymous p.F469F c.1407C>T 6 42600415 LUAD C T Synonymous p.H1452H c.4356C>T 6 42643898 UCEC C T Synonymous p.I1295I c.3885C>T 6 42637833 CM C T Synonymous p.I1672I c.5016C>T 6 42656116 CM C T Synonymous p.I814I c.2442C>T 6 42615888 CM C T Synonymous p.L351L c.1051C>T 6 42582874 CM C T Synonymous p.L573L c.1717C>T 6 42604791 RCCC C T Synonymous p.P1533P c.4599C>T 6 42646397 UCEC C T Synonymous p.S604S c.1812C>T 6 42604886 CM C T Synonymous p.T423T c.1269C>T 6 42585064 BRCA G A IntronicSNV . c.531+1305G>A 6 42563347 CLL G A Missense p.A216T c.646G>A 6 42571440 PAAD G A Missense p.A2T c.4G>A 6 42532061 CM G A Missense p.A792T c.2374G>A 6 42613293 HNSC G A Missense p.D1158N c.3472G>A 6 42629951 BRCA G A Missense p.E1059K c.3175G>A 6 42626495 LUAD G A Missense p.E1719K c.5155G>A 6 42658798 ESCA G A Missense p.G1501S c.4501G>A 6 42646299 UCEC G A Missense p.G1586D c.4757G>A 6 42650831 CM G A Missense p.G525E c.1574G>A 6 42603184 HNSC G A Missense p.R1039K c.3116G>A 6 42626436 BLCA G A Missense p.R1054Q c.3161G>A 6 42626481 UCEC G A Missense p.R1371K c.4112G>A 6 42641554 UCEC G A Missense p.S725N c.2174G>A 6 42612028 CM G A SpliceAcceptorSNV . c.802-1G>A 6 42574326 HNSC G A Synonymous p.E1299E c.3897G>A 6 42637845 CM G A Synonymous p.P1620P c.4860G>A 6 42655960 BLCA G A Synonymous p.Q398Q c.1194G>A 6 42584989 UCEC G A Synonymous p.Q475Q c.1425G>A 6 42600433 LUAD G C Missense p.E940Q c.2818G>C 6 42623407 OV G C Missense p.G701R c.2101G>C 6 42611955 LUAD G C Missense p.M1450I c.4350G>C 6 42643892 CM G C Missense p.R391P c.1172G>C 6 42583818 UCEC GG TT Missense p.R1677L c.5030_5031delinsTT 6 42657312 CM G T Missense p.D1589Y c.4765G>T 6 42650839 OV G T Missense p.D558Y c.1672G>T 6 42603282 CM G T Missense p.G1169W c.3505G>T 6 42629984 LUAD G T Missense p.L1427F c.4281G>T 6 42643823 LUSC G T Missense p.Q1065H c.3195G>T 6 42626515 RCCC G T Missense p.Q1282H c.3846G>T 6 42633948 LUAD G T Missense p.R1367M c.4100G>T 6 42641542 LUSC G T Nonsense p.E502* c.1504G>T 6 42600601 LUAD G T Synonymous p.A1337A c.4011G>T 6 42637959 HNSC G T Synonymous p.P876P c.2628G>T 6 42620242 STAD T A Missense p.W1333R c.3997T>A 6 42637945 RCCC T C Missense p.V203A c.608T>C 6 42571402 SCLC T C Missense p.Y192H c.574T>C 6 42571368 BRCA T C Synonymous p.D1202D c.3606T>C 6 42631065 LUSC T C Synonymous p.G339G c.1017T>C 6 42582840 CM T C Synonymous p.T245T c.735T>C 6 42573531 OV TGG - InFrameDeletion p.G579delG c.1735_1737delGGT 6 42604805 ESCA T G Missense p.F445C c.1334T>G 6 42600342 UCEC T G Missense p.I1171S c.3512T>G 6 42629991 STAD T G Missense p.Y1693D c.5077T>G 6 42657359 PRAD T G Synonymous p.A979A c.2937T>G 6 42625826 BLCA T G Synonymous p.P801P c.2403T>G 6 42613322 CM T - IntronicDeletion . c.339-11delT 6 42559867 STAD - T IntronicInsertion . c.4086+1335dupT 6 42639779 CM