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 3 51457650 51457650 + Missense_Mutation SNP G G C TCGA-OR-A5JF-01A-11D-A29I-10 TCGA-OR-A5JF-10A-01D-A29L-10 g.chr3:51457650G>C c.1427C>G c.(1426-1428)tCt>tGt p.S476C BLCA 3 51440609 51440609 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 g.chr3:51440609G>A c.3086C>T c.(3085-3087)gCa>gTa p.A1029V BLCA 3 51449904 51449904 + Missense_Mutation SNP C C A TCGA-FD-A62N-01A-11D-A30E-08 TCGA-FD-A62N-10A-01D-A30H-08 g.chr3:51449904C>A c.2794G>T c.(2794-2796)Gac>Tac p.D932Y BLCA 3 51451487 51451487 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr3:51451487C>T c.2501G>A c.(2500-2502)cGa>cAa p.R834Q BLCA 3 51457415 51457415 + Silent SNP C C A TCGA-E7-A541-01A-11D-A26M-08 TCGA-E7-A541-10A-01D-A26K-08 g.chr3:51457415C>A c.1662G>T c.(1660-1662)acG>acT p.T554T BLCA 3 51457623 51457623 + Missense_Mutation SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 g.chr3:51457623C>T c.1454G>A c.(1453-1455)cGg>cAg p.R485Q BLCA 3 51475764 51475764 + Missense_Mutation SNP C C G TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr3:51475764C>G c.663G>C c.(661-663)atG>atC p.M221I BRCA 3 51440606 51440606 + Missense_Mutation SNP T T A TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 g.chr3:51440606T>A c.3089A>T c.(3088-3090)gAt>gTt p.D1030V BRCA 3 51450817 51450817 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:51450817C>T c.2608G>A c.(2608-2610)Gat>Aat p.D870N BRCA 3 51450832 51450832 + Nonsense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 g.chr3:51450832G>A c.2593C>T c.(2593-2595)Cag>Tag p.Q865* BRCA 3 51452257 51452257 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 g.chr3:51452257C>T c.2311G>A c.(2311-2313)Gcc>Acc p.A771T BRCA 3 51456160 51456160 + Nonsense_Mutation SNP G G C TCGA-BH-A0W7-01A-11D-A10Y-09 TCGA-BH-A0W7-10A-01D-A110-09 g.chr3:51456160G>C c.2060C>G c.(2059-2061)tCa>tGa p.S687* BRCA 3 51457421 51457421 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr3:51457421T>G c.1656A>C c.(1654-1656)ccA>ccC p.P552P BRCA 3 51457513 51457513 + Missense_Mutation SNP T T C TCGA-A2-A0YE-01A-11D-A10G-09 TCGA-A2-A0YE-10A-01D-A10G-09 g.chr3:51457513T>C c.1564A>G c.(1564-1566)Aaa>Gaa p.K522E BRCA 3 51458151 51458151 + Missense_Mutation SNP G G T TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 g.chr3:51458151G>T c.926C>A c.(925-927)gCc>gAc p.A309D BRCA 3 51458364 51458364 + Missense_Mutation SNP T T C TCGA-D8-A1XM-01A-21D-A14K-09 TCGA-D8-A1XM-10A-01D-A14K-09 g.chr3:51458364T>C c.713A>G c.(712-714)aAt>aGt p.N238S BRCA 3 51464977 51464977 + Intron SNP G G A TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 g.chr3:51464977G>A BRCA 3 51475566 51475566 + Intron SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:51475566G>C CESC 3 51452260 51452260 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr3:51452260G>C c.2308C>G c.(2308-2310)Ctt>Gtt p.L770V CESC 3 51457372 51457372 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 g.chr3:51457372G>A c.1705C>T c.(1705-1707)Cgc>Tgc p.R569C CESC 3 51457980 51457980 + Missense_Mutation SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 g.chr3:51457980C>T c.1097G>A c.(1096-1098)cGg>cAg p.R366Q CESC 3 51458162 51458162 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr3:51458162G>A c.915C>T c.(913-915)atC>atT p.I305I CHOL 3 51449832 51449832 + Splice_Site SNP C C G TCGA-ZH-A8Y5-01A-11D-A417-09 TCGA-ZH-A8Y5-10A-01D-A41A-09 g.chr3:51449832C>G c.e15+1 COAD 3 51440754 51440754 + Missense_Mutation SNP C C T TCGA-AA-3844-01A-01W-0995-10 TCGA-AA-3844-10A-01W-0995-10 g.chr3:51440754C>T c.2941G>A c.(2941-2943)Gac>Aac p.D981N COAD 3 51451440 51451440 + Missense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr3:51451440C>T c.2548G>A c.(2548-2550)Gtg>Atg p.V850M COAD 3 51451487 51451487 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:51451487C>T c.2501G>A c.(2500-2502)cGa>cAa p.R834Q COAD 3 51452160 51452160 + Missense_Mutation SNP A A G TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr3:51452160A>G c.2408T>C c.(2407-2409)aTc>aCc p.I803T COAD 3 51457252 51457252 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:51457252C>T c.1825G>A c.(1825-1827)Gca>Aca p.A609T COAD 3 51457371 51457371 + Missense_Mutation SNP C C T TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr3:51457371C>T c.1706G>A c.(1705-1707)cGc>cAc p.R569H COAD 3 51467580 51467580 + Intron SNP A A G TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr3:51467580A>G COAD 3 51475000 51475000 + Intron SNP A A C TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr3:51475000A>C COAD 3 51475424 51475424 + Intron SNP T T C TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr3:51475424T>C COAD 3 51475500 51475500 + Intron SNP G G T TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr3:51475500G>T COAD 3 51477862 51477862 + Missense_Mutation SNP T T C TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr3:51477862T>C c.433A>G c.(433-435)Aca>Gca p.T145A COAD 3 51497146 51497146 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:51497146A>G c.359T>C c.(358-360)gTc>gCc p.V120A COAD 3 51505005 51505005 + Nonsense_Mutation SNP C C A TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr3:51505005C>A c.127G>T c.(127-129)Gaa>Taa p.E43* COAD 3 51517770 51517770 + Silent SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr3:51517770A>G c.75T>C c.(73-75)caT>caC p.H25H COAD 3 51517771 51517771 + Missense_Mutation SNP T T C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr3:51517771T>C c.74A>G c.(73-75)cAt>cGt p.H25R COAD 3 51517771 51517771 + Missense_Mutation SNP T T C TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr3:51517771T>C c.74A>G c.(73-75)cAt>cGt p.H25R COAD 3 51517771 51517771 + Missense_Mutation SNP T T C TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr3:51517771T>C c.74A>G c.(73-75)cAt>cGt p.H25R COADREAD 3 51440754 51440754 + Missense_Mutation SNP C C T TCGA-AA-3844-01A-01W-0995-10 TCGA-AA-3844-10A-01W-0995-10 g.chr3:51440754C>T c.2941G>A c.(2941-2943)Gac>Aac p.D981N COADREAD 3 51450463 51450463 + Missense_Mutation SNP T T C TCGA-AG-3878-01A-02W-0899-10 TCGA-AG-3878-10A-01W-0901-10 g.chr3:51450463T>C c.2747A>G c.(2746-2748)tAt>tGt p.Y916C COADREAD 3 51451440 51451440 + Missense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr3:51451440C>T c.2548G>A c.(2548-2550)Gtg>Atg p.V850M COADREAD 3 51451487 51451487 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:51451487C>T c.2501G>A c.(2500-2502)cGa>cAa p.R834Q COADREAD 3 51452160 51452160 + Missense_Mutation SNP A A G TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr3:51452160A>G c.2408T>C c.(2407-2409)aTc>aCc p.I803T COADREAD 3 51457252 51457252 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:51457252C>T c.1825G>A c.(1825-1827)Gca>Aca p.A609T COADREAD 3 51457371 51457371 + Missense_Mutation SNP C C T TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr3:51457371C>T c.1706G>A c.(1705-1707)cGc>cAc p.R569H COADREAD 3 51467580 51467580 + Intron SNP A A G TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr3:51467580A>G COADREAD 3 51475000 51475000 + Intron SNP A A C TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr3:51475000A>C COADREAD 3 51475424 51475424 + Intron SNP T T C TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr3:51475424T>C COADREAD 3 51475500 51475500 + Intron SNP G G T TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr3:51475500G>T COADREAD 3 51477862 51477862 + Missense_Mutation SNP T T C TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr3:51477862T>C c.433A>G c.(433-435)Aca>Gca p.T145A COADREAD 3 51477917 51477917 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:51477917C>A c.378G>T c.(376-378)gaG>gaT p.E126D COADREAD 3 51497146 51497146 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:51497146A>G c.359T>C c.(358-360)gTc>gCc p.V120A COADREAD 3 51505005 51505005 + Nonsense_Mutation SNP C C A TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr3:51505005C>A c.127G>T c.(127-129)Gaa>Taa p.E43* COADREAD 3 51505016 51505016 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:51505016G>T c.116C>A c.(115-117)tCt>tAt p.S39Y COADREAD 3 51517770 51517770 + Missense_Mutation SNP A A C TCGA-AF-2687-01A-02D-1733-10 TCGA-AF-2687-10A-01D-1733-10 g.chr3:51517770A>C c.75T>G c.(73-75)caT>caG p.H25Q COADREAD 3 51517770 51517770 + Silent SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr3:51517770A>G c.75T>C c.(73-75)caT>caC p.H25H COADREAD 3 51517771 51517771 + Missense_Mutation SNP T T C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr3:51517771T>C c.74A>G c.(73-75)cAt>cGt p.H25R COADREAD 3 51517771 51517771 + Missense_Mutation SNP T T C TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr3:51517771T>C c.74A>G c.(73-75)cAt>cGt p.H25R COADREAD 3 51517771 51517771 + Missense_Mutation SNP T T C TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr3:51517771T>C c.74A>G c.(73-75)cAt>cGt p.H25R DLBC 3 51458204 51458204 + Silent SNP G G A TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr3:51458204G>A c.873C>T c.(871-873)tcC>tcT p.S291S DLBC 3 51475454 51475454 + Intron SNP T T C TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr3:51475454T>C DLBC 3 51497147 51497147 + Missense_Mutation SNP C C T TCGA-RQ-A6JB-01A-11D-A31X-10 TCGA-RQ-A6JB-10A-01D-A31X-10 g.chr3:51497147C>T c.358G>A c.(358-360)Gtc>Atc p.V120I ESCA 3 51452148 51452148 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr3:51452148T>C c.2420A>G c.(2419-2421)gAc>gGc p.D807G ESCA 3 51452220 51452220 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 g.chr3:51452220G>A c.2348C>T c.(2347-2349)cCt>cTt p.P783L ESCA 3 51456251 51456251 + Missense_Mutation SNP G G A TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 g.chr3:51456251G>A c.1969C>T c.(1969-1971)Cgg>Tgg p.R657W HNSC 3 51440675 51440675 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr3:51440675G>A c.3020C>T c.(3019-3021)cCc>cTc p.P1007L HNSC 3 51440676 51440676 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr3:51440676G>A c.3019C>T c.(3019-3021)Ccc>Tcc p.P1007S HNSC 3 51450829 51450829 + Missense_Mutation SNP C C T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 g.chr3:51450829C>T c.2596G>A c.(2596-2598)Gca>Aca p.A866T HNSC 3 51457789 51457789 + Missense_Mutation SNP T T C TCGA-UP-A6WW-01A-12D-A34J-08 TCGA-UP-A6WW-10B-01D-A34M-08 g.chr3:51457789T>C c.1288A>G c.(1288-1290)Act>Gct p.T430A HNSC 3 51457835 51457835 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr3:51457835A>G c.1242T>C c.(1240-1242)ctT>ctC p.L414L HNSC 3 51458118 51458118 + Missense_Mutation SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 g.chr3:51458118C>G c.959G>C c.(958-960)aGc>aCc p.S320T HNSC 3 51477888 51477888 + Missense_Mutation SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 g.chr3:51477888G>A c.407C>T c.(406-408)gCc>gTc p.A136V HNSC 3 51497226 51497226 + Silent SNP C C G TCGA-QK-A6II-01A-11D-A31L-08 TCGA-QK-A6II-10A-01D-A31J-08 g.chr3:51497226C>G c.279G>C c.(277-279)gtG>gtC p.V93V KICH 3 51475088 51475088 + Intron SNP C C T TCGA-KN-8424-01A-11D-2310-10 TCGA-KN-8424-11A-01D-2310-10 g.chr3:51475088C>T KIPAN 3 51452313 51452313 + Splice_Site SNP T T G TCGA-B1-A655-01A-11D-A31Z-10 TCGA-B1-A655-10A-01D-A31X-10 g.chr3:51452313T>G c.e11-2 KIPAN 3 51455599 51455599 + Silent SNP A A C TCGA-BP-4770-01A-01D-1501-10 TCGA-BP-4770-11A-01D-1501-10 g.chr3:51455599A>C c.2142T>G c.(2140-2142)ctT>ctG p.L714L KIPAN 3 51456171 51456171 + Missense_Mutation SNP G G T TCGA-BQ-7058-01A-11D-1961-08 TCGA-BQ-7058-11A-01D-1961-08 g.chr3:51456171G>T c.2049C>A c.(2047-2049)aaC>aaA p.N683K KIPAN 3 51457622 51457622 + Silent SNP C C G TCGA-BQ-7053-01A-11D-1961-08 TCGA-BQ-7053-11A-01D-1961-08 g.chr3:51457622C>G c.1455G>C c.(1453-1455)cgG>cgC p.R485R KIPAN 3 51475088 51475088 + Intron SNP C C T TCGA-KN-8424-01A-11D-2310-10 TCGA-KN-8424-11A-01D-2310-10 g.chr3:51475088C>T KIRC 3 51455599 51455599 + Silent SNP A A C TCGA-BP-4770-01A-01D-1501-10 TCGA-BP-4770-11A-01D-1501-10 g.chr3:51455599A>C c.2142T>G c.(2140-2142)ctT>ctG p.L714L KIRP 3 51452313 51452313 + Splice_Site SNP T T G TCGA-B1-A655-01A-11D-A31Z-10 TCGA-B1-A655-10A-01D-A31X-10 g.chr3:51452313T>G c.e11-2 KIRP 3 51456171 51456171 + Missense_Mutation SNP G G T TCGA-BQ-7058-01A-11D-1961-08 TCGA-BQ-7058-11A-01D-1961-08 g.chr3:51456171G>T c.2049C>A c.(2047-2049)aaC>aaA p.N683K KIRP 3 51457622 51457622 + Silent SNP C C G TCGA-BQ-7053-01A-11D-1961-08 TCGA-BQ-7053-11A-01D-1961-08 g.chr3:51457622C>G c.1455G>C c.(1453-1455)cgG>cgC p.R485R LAML 3 51466813 51466813 + Intron SNP T T C TCGA-AB-2839-03B-01W-0728-08 TCGA-AB-2839-11B-01W-0729-08 g.chr3:51466813T>C LIHC 3 51456168 51456168 + Silent SNP A A G TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr3:51456168A>G c.2052T>C c.(2050-2052)tgT>tgC p.C684C LIHC 3 51456190 51456190 + Missense_Mutation SNP T T C TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr3:51456190T>C c.2030A>G c.(2029-2031)cAg>cGg p.Q677R LIHC 3 51475613 51475613 + Intron DEL G G - TCGA-DD-AAD3-01A-11D-A40R-10 TCGA-DD-AAD3-10A-01D-A40U-10 g.chr3:51475613delG LIHC 3 51505002 51505002 + Missense_Mutation SNP T T C TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr3:51505002T>C c.130A>G c.(130-132)Aaa>Gaa p.K44E LIHC 3 51505011 51505011 + Missense_Mutation SNP A A T TCGA-DD-AACV-01A-11D-A40R-10 TCGA-DD-AACV-10A-01D-A40U-10 g.chr3:51505011A>T c.121T>A c.(121-123)Ttg>Atg p.L41M LUAD 3 51440706 51440706 + Missense_Mutation SNP C C T TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chr3:51440706C>T c.2989G>A c.(2989-2991)Gca>Aca p.A997T LUAD 3 51457258 51457258 + Missense_Mutation SNP G G A TCGA-MP-A4TI-01A-21D-A24P-08 TCGA-MP-A4TI-10A-01D-A24P-08 g.chr3:51457258G>A c.1819C>T c.(1819-1821)Cgc>Tgc p.R607C LUAD 3 51457358 51457358 + Silent SNP T T C TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr3:51457358T>C c.1719A>G c.(1717-1719)ccA>ccG p.P573P LUAD 3 51457540 51457540 + Nonsense_Mutation SNP C C A TCGA-17-Z010-01A-01W-0746-08 TCGA-17-Z010-11A-01W-0746-08 g.chr3:51457540C>A c.1537G>T c.(1537-1539)Gag>Tag p.E513* LUAD 3 51458159 51458159 + Silent SNP C C A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr3:51458159C>A c.918G>T c.(916-918)cgG>cgT p.R306R LUAD 3 51475837 51475837 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 g.chr3:51475837C>A c.590G>T c.(589-591)aGt>aTt p.S197I LUAD 3 51477789 51477789 + Nonsense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 g.chr3:51477789G>T c.506C>A c.(505-507)tCa>tAa p.S169* LUAD 3 51517757 51517757 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr3:51517757C>T c.88G>A c.(88-90)Gac>Aac p.D30N LUSC 3 51452138 51452138 + Silent SNP A A G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 g.chr3:51452138A>G c.2430T>C c.(2428-2430)aaT>aaC p.N810N LUSC 3 51457744 51457744 + Missense_Mutation SNP C C T TCGA-66-2773-01A-01D-1267-08 TCGA-66-2773-11A-01D-1267-08 g.chr3:51457744C>T c.1333G>A c.(1333-1335)Gct>Act p.A445T LUSC 3 51467502 51467502 + Intron SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr3:51467502G>A LUSC 3 51475085 51475085 + Intron SNP T T C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 g.chr3:51475085T>C LUSC 3 51475638 51475638 + Intron SNP T T C TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 g.chr3:51475638T>C LUSC 3 51517747 51517747 + Missense_Mutation SNP G G C TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 g.chr3:51517747G>C c.98C>G c.(97-99)cCt>cGt p.P33R OV 3 51458102 51458102 + Silent SNP G G A TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 g.chr3:51458102G>A c.975C>T c.(973-975)atC>atT p.I325I OV 3 51517772 51517772 + Missense_Mutation SNP G G A TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 g.chr3:51517772G>A c.73C>T c.(73-75)Cat>Tat p.H25Y PAAD 3 51457286 51457286 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:51457286C>T c.1791G>A c.(1789-1791)gcG>gcA p.A597A PAAD 3 51457767 51457767 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:51457767G>A c.1310C>T c.(1309-1311)gCc>gTc p.A437V PAAD 3 51458120 51458120 + Silent SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:51458120A>G c.957T>C c.(955-957)agT>agC p.S319S PAAD 3 51517735 51517735 + Splice_Site SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:51517735C>A c.110G>T c.(109-111)aGg>aTg p.R37M PCPG 3 51455620 51455620 + Missense_Mutation SNP C C A TCGA-QR-A70E-01A-11D-A35D-08 TCGA-QR-A70E-10A-01D-A35B-08 g.chr3:51455620C>A c.2121G>T c.(2119-2121)tgG>tgT p.W707C PRAD 3 51456180 51456180 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:51456180G>A c.2040C>T c.(2038-2040)gcC>gcT p.A680A PRAD 3 51457368 51457368 + Missense_Mutation SNP C C T TCGA-QU-A6IL-01A-11D-A31L-08 TCGA-QU-A6IL-10A-01D-A31J-08 g.chr3:51457368C>T c.1709G>A c.(1708-1710)tGc>tAc p.C570Y READ 3 51450463 51450463 + Missense_Mutation SNP T T C TCGA-AG-3878-01A-02W-0899-10 TCGA-AG-3878-10A-01W-0901-10 g.chr3:51450463T>C c.2747A>G c.(2746-2748)tAt>tGt p.Y916C READ 3 51477917 51477917 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:51477917C>A c.378G>T c.(376-378)gaG>gaT p.E126D READ 3 51505016 51505016 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:51505016G>T c.116C>A c.(115-117)tCt>tAt p.S39Y READ 3 51517770 51517770 + Missense_Mutation SNP A A C TCGA-AF-2687-01A-02D-1733-10 TCGA-AF-2687-10A-01D-1733-10 g.chr3:51517770A>C c.75T>G c.(73-75)caT>caG p.H25Q SKCM 3 51440667 51440667 + Nonsense_Mutation SNP C C A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 g.chr3:51440667C>A c.3028G>T c.(3028-3030)Gag>Tag p.E1010* SKCM 3 51440680 51440680 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 g.chr3:51440680G>A c.3015C>T c.(3013-3015)ttC>ttT p.F1005F SKCM 3 51456309 51456309 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr3:51456309G>A c.1911C>T c.(1909-1911)ttC>ttT p.F637F SKCM 3 51458162 51458162 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr3:51458162G>A c.915C>T c.(913-915)atC>atT p.I305I SKCM 3 51475813 51475813 + Missense_Mutation SNP G G A TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chr3:51475813G>A c.614C>T c.(613-615)cCc>cTc p.P205L SKCM 3 51475831 51475831 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 g.chr3:51475831C>T c.596G>A c.(595-597)cGg>cAg p.R199Q SKCM 3 51475839 51475839 + Silent SNP G G T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 g.chr3:51475839G>T c.588C>A c.(586-588)ccC>ccA p.P196P

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 3 51431059 51431059 single base substitution C G downstream_gene_variant BLCA-CN 3 51458231 51458231 single base substitution G T synonymous_variant S282S 846C>A BLCA-CN 3 51458231 51458231 single base substitution G T synonymous_variant S302S 906C>A BLCA-US 3 51429743 51429743 single base substitution G A downstream_gene_variant BLCA-US 3 51457623 51457623 single base substitution C T missense_variant R485Q 1454G>A BLCA-US 3 51457623 51457623 single base substitution C T missense_variant R505Q 1514G>A BLCA-US 3 51458411 51458411 single base substitution G A splice_region_variant BLCA-US 3 51458411 51458411 single base substitution G A synonymous_variant F242F 726C>T BLCA-US 3 51464860 51464860 single base substitution T G intron_variant BLCA-US 3 51464860 51464860 single base substitution T G missense_variant I175L 523A>C BRCA-EU 3 51428968 51428968 single base substitution G C downstream_gene_variant BRCA-EU 3 51429937 51429937 single base substitution G C downstream_gene_variant BRCA-EU 3 51430897 51430897 single base substitution G A downstream_gene_variant BRCA-EU 3 51431014 51431014 single base substitution G A downstream_gene_variant BRCA-EU 3 51431423 51431423 single base substitution T C downstream_gene_variant BRCA-EU 3 51433017 51433017 single base substitution C G downstream_gene_variant BRCA-EU 3 51435126 51435126 single base substitution A T downstream_gene_variant BRCA-EU 3 51435126 51435126 single base substitution A T intron_variant BRCA-EU 3 51435127 51435127 single base substitution T A downstream_gene_variant BRCA-EU 3 51435127 51435127 single base substitution T A intron_variant BRCA-EU 3 51438153 51438153 single base substitution A G intron_variant BRCA-EU 3 51438514 51438514 single base substitution G C intron_variant BRCA-EU 3 51441031 51441031 single base substitution C A intron_variant BRCA-EU 3 51443605 51443605 single base substitution G A intron_variant BRCA-EU 3 51446243 51446243 single base substitution C G intron_variant BRCA-EU 3 51446633 51446633 single base substitution G C intron_variant BRCA-EU 3 51446898 51446898 single base substitution G A intron_variant BRCA-EU 3 51447235 51447235 single base substitution A G intron_variant BRCA-EU 3 51447647 51447647 single base substitution G A intron_variant BRCA-EU 3 51447789 51447789 single base substitution T G intron_variant BRCA-EU 3 51447884 51447897 deletion of <=200bp AGGATTTGATTTAC - intron_variant BRCA-EU 3 51448677 51448677 single base substitution G A intron_variant BRCA-EU 3 51449260 51449260 single base substitution G C intron_variant BRCA-EU 3 51452113 51452113 single base substitution G C missense_variant P819A 2455C>G BRCA-EU 3 51452113 51452113 single base substitution G C missense_variant P839A 2515C>G BRCA-EU 3 51452337 51452337 single base substitution G C intron_variant BRCA-EU 3 51454166 51454166 single base substitution A G intron_variant BRCA-EU 3 51456196 51456196 single base substitution C T missense_variant S675N 2024G>A BRCA-EU 3 51456196 51456196 single base substitution C T missense_variant S695N 2084G>A BRCA-EU 3 51457448 51457448 deletion of <=200bp T - frameshift_variant K543 BRCA-EU 3 51457448 51457448 deletion of <=200bp T - frameshift_variant K563 BRCA-EU 3 51457553 51457553 single base substitution G A synonymous_variant I508I 1524C>T BRCA-EU 3 51457553 51457553 single base substitution G A synonymous_variant I528I 1584C>T BRCA-EU 3 51459051 51459051 single base substitution A C intron_variant BRCA-EU 3 51459053 51459053 single base substitution G A intron_variant BRCA-EU 3 51460526 51460526 deletion of <=200bp A - intron_variant BRCA-EU 3 51462626 51462626 single base substitution C G intron_variant BRCA-EU 3 51463363 51463363 single base substitution T A intron_variant BRCA-EU 3 51464721 51464721 single base substitution C T intron_variant BRCA-EU 3 51465711 51465711 single base substitution C G intron_variant BRCA-EU 3 51466268 51466268 single base substitution G A intron_variant BRCA-EU 3 51467051 51467051 single base substitution A T intron_variant BRCA-EU 3 51470037 51470037 single base substitution G T downstream_gene_variant BRCA-EU 3 51470037 51470037 single base substitution G T intron_variant BRCA-EU 3 51470037 51470037 single base substitution G T upstream_gene_variant BRCA-EU 3 51470306 51470306 single base substitution G T downstream_gene_variant BRCA-EU 3 51470306 51470306 single base substitution G T intron_variant BRCA-EU 3 51470306 51470306 single base substitution G T upstream_gene_variant BRCA-EU 3 51472810 51472810 single base substitution G A downstream_gene_variant BRCA-EU 3 51472810 51472810 single base substitution G A intron_variant BRCA-EU 3 51473904 51473904 single base substitution G T downstream_gene_variant BRCA-EU 3 51473904 51473904 single base substitution G T intron_variant BRCA-EU 3 51475859 51475859 single base substitution G A missense_variant R190W 568C>T BRCA-EU 3 51477026 51477026 single base substitution C G intron_variant BRCA-EU 3 51477113 51477113 deletion of <=200bp A - intron_variant BRCA-EU 3 51477581 51477581 single base substitution G A intron_variant BRCA-EU 3 51478276 51478276 single base substitution C G intron_variant BRCA-EU 3 51478376 51478376 single base substitution T A intron_variant BRCA-EU 3 51480682 51480682 insertion of <=200bp - A intron_variant BRCA-EU 3 51484218 51484218 single base substitution G C intron_variant BRCA-EU 3 51484971 51484971 insertion of <=200bp - A intron_variant BRCA-EU 3 51488832 51488832 single base substitution G A intron_variant BRCA-EU 3 51491365 51491365 single base substitution G C intron_variant BRCA-EU 3 51492022 51492022 single base substitution T G intron_variant BRCA-EU 3 51493111 51493111 single base substitution C G intron_variant BRCA-EU 3 51494154 51494154 single base substitution G A intron_variant BRCA-EU 3 51494506 51494506 single base substitution G C intron_variant BRCA-EU 3 51498484 51498484 single base substitution G C intron_variant BRCA-EU 3 51499166 51499166 single base substitution G A intron_variant BRCA-EU 3 51503133 51503133 single base substitution A G intron_variant BRCA-EU 3 51503807 51503807 single base substitution C T intron_variant BRCA-EU 3 51510025 51510025 single base substitution G C intron_variant BRCA-EU 3 51510143 51510143 single base substitution G A intron_variant BRCA-EU 3 51513266 51513266 single base substitution C T intron_variant BRCA-EU 3 51514171 51514171 single base substitution A G intron_variant BRCA-EU 3 51514860 51514860 deletion of <=200bp T - intron_variant BRCA-EU 3 51516268 51516268 single base substitution C A intron_variant BRCA-EU 3 51518143 51518143 single base substitution G C intron_variant BRCA-EU 3 51518143 51518143 single base substitution G C upstream_gene_variant BRCA-EU 3 51519518 51519518 single base substitution G A intron_variant BRCA-EU 3 51519518 51519518 single base substitution G A upstream_gene_variant BRCA-EU 3 51520165 51520165 single base substitution C T intron_variant BRCA-EU 3 51520165 51520165 single base substitution C T upstream_gene_variant BRCA-EU 3 51520899 51520899 single base substitution C T intron_variant BRCA-EU 3 51520899 51520899 single base substitution C T upstream_gene_variant BRCA-EU 3 51524035 51524035 insertion of <=200bp - CTG intron_variant BRCA-EU 3 51526539 51526539 deletion of <=200bp A - intron_variant BRCA-EU 3 51528310 51528310 single base substitution G C intron_variant BRCA-EU 3 51529241 51529241 single base substitution G A intron_variant BRCA-EU 3 51532053 51532053 single base substitution G A intron_variant BRCA-EU 3 51533414 51533414 single base substitution G A intron_variant BRCA-EU 3 51535836 51535836 single base substitution G A upstream_gene_variant BRCA-EU 3 51536474 51536474 single base substitution G A upstream_gene_variant BRCA-EU 3 51536582 51536582 single base substitution T A upstream_gene_variant BRCA-EU 3 51536931 51536931 single base substitution C G upstream_gene_variant BRCA-FR 3 51436811 51436811 single base substitution T C intron_variant BRCA-FR 3 51446243 51446243 single base substitution C G intron_variant BRCA-FR 3 51457553 51457553 single base substitution G A synonymous_variant I508I 1524C>T BRCA-FR 3 51457553 51457553 single base substitution G A synonymous_variant I528I 1584C>T BRCA-FR 3 51469155 51469155 single base substitution A T intron_variant BRCA-FR 3 51469155 51469155 single base substitution A T upstream_gene_variant BRCA-FR 3 51472810 51472810 single base substitution G A downstream_gene_variant BRCA-FR 3 51472810 51472810 single base substitution G A intron_variant BRCA-FR 3 51473904 51473904 single base substitution G T downstream_gene_variant BRCA-FR 3 51473904 51473904 single base substitution G T intron_variant BRCA-FR 3 51475879 51475879 single base substitution T C missense_variant Q183R 548A>G BRCA-FR 3 51475893 51475893 single base substitution T G missense_variant R178S 534A>C BRCA-FR 3 51494092 51494092 single base substitution G C intron_variant BRCA-FR 3 51498484 51498484 single base substitution G C intron_variant BRCA-FR 3 51499166 51499166 single base substitution G A intron_variant BRCA-FR 3 51501677 51501677 single base substitution A T intron_variant BRCA-FR 3 51503133 51503133 single base substitution A G intron_variant BRCA-FR 3 51520165 51520165 single base substitution C T intron_variant BRCA-FR 3 51520165 51520165 single base substitution C T upstream_gene_variant BRCA-FR 3 51525661 51525661 single base substitution G T intron_variant BRCA-KR 3 51457355 51457355 single base substitution A C synonymous_variant V574V 1722T>G BRCA-KR 3 51457355 51457355 single base substitution A C synonymous_variant V594V 1782T>G BRCA-KR 3 51470456 51470456 single base substitution G T downstream_gene_variant BRCA-KR 3 51470456 51470456 single base substitution G T intron_variant BRCA-KR 3 51470456 51470456 single base substitution G T upstream_gene_variant BRCA-UK 3 51432158 51432158 single base substitution C T downstream_gene_variant BRCA-UK 3 51463448 51463448 single base substitution C G intron_variant BRCA-UK 3 51483407 51483407 single base substitution G C intron_variant BRCA-UK 3 51516614 51516614 single base substitution C G intron_variant BRCA-UK 3 51522067 51522067 single base substitution G A intron_variant BRCA-UK 3 51522067 51522067 single base substitution G A upstream_gene_variant BRCA-US 3 51430439 51430439 single base substitution C T downstream_gene_variant BRCA-US 3 51430822 51430824 deletion of <=200bp CCA - downstream_gene_variant BRCA-US 3 51430965 51430965 single base substitution C T downstream_gene_variant BRCA-US 3 51431352 51431352 insertion of <=200bp - G downstream_gene_variant BRCA-US 3 51440606 51440606 single base substitution T A missense_variant D1030V 3089A>T BRCA-US 3 51440606 51440606 single base substitution T A missense_variant D1050V 3149A>T BRCA-US 3 51450817 51450817 single base substitution C T missense_variant D870N 2608G>A BRCA-US 3 51450817 51450817 single base substitution C T missense_variant D890N 2668G>A BRCA-US 3 51450832 51450832 single base substitution G A stop_gained Q865* 2593C>T BRCA-US 3 51450832 51450832 single base substitution G A stop_gained Q885* 2653C>T BRCA-US 3 51452257 51452257 single base substitution C T missense_variant A771T 2311G>A BRCA-US 3 51452257 51452257 single base substitution C T missense_variant A791T 2371G>A BRCA-US 3 51456160 51456160 single base substitution G C stop_gained S687* 2060C>G BRCA-US 3 51456160 51456160 single base substitution G C stop_gained S707* 2120C>G BRCA-US 3 51457421 51457421 single base substitution T G synonymous_variant P552P 1656A>C BRCA-US 3 51457421 51457421 single base substitution T G synonymous_variant P572P 1716A>C BRCA-US 3 51457513 51457513 single base substitution T C missense_variant K522E 1564A>G BRCA-US 3 51457513 51457513 single base substitution T C missense_variant K542E 1624A>G BRCA-US 3 51458151 51458151 single base substitution G T missense_variant A309D 926C>A BRCA-US 3 51458151 51458151 single base substitution G T missense_variant A329D 986C>A BRCA-US 3 51458364 51458364 single base substitution T C missense_variant N238S 713A>G BRCA-US 3 51458364 51458364 single base substitution T C missense_variant N258S 773A>G BRCA-US 3 51464977 51464977 single base substitution G A intron_variant BRCA-US 3 51464977 51464977 single base substitution G A missense_variant H136Y 406C>T BRCA-US 3 51475566 51475566 single base substitution G C intron_variant BRCA-US 3 51475566 51475566 single base substitution G C missense_variant F287L 861C>G BTCA-JP 3 51429911 51429911 single base substitution G A downstream_gene_variant BTCA-JP 3 51440919 51440919 single base substitution G C intron_variant BTCA-JP 3 51450977 51450977 single base substitution C G intron_variant BTCA-JP 3 51451524 51451524 single base substitution T C intron_variant BTCA-JP 3 51452335 51452335 single base substitution G A intron_variant BTCA-JP 3 51457448 51457448 deletion of <=200bp T - frameshift_variant K543 BTCA-JP 3 51457448 51457448 deletion of <=200bp T - frameshift_variant K563 BTCA-JP 3 51457615 51457615 insertion of <=200bp - G frameshift_variant Q488P? BTCA-JP 3 51457615 51457615 insertion of <=200bp - G frameshift_variant Q508P? BTCA-JP 3 51471302 51471302 single base substitution G A downstream_gene_variant BTCA-JP 3 51471302 51471302 single base substitution G A intron_variant BTCA-JP 3 51471302 51471302 single base substitution G A upstream_gene_variant BTCA-JP 3 51500751 51500751 single base substitution C T intron_variant CESC-US 3 51452260 51452260 single base substitution G C missense_variant L770V 2308C>G CESC-US 3 51452260 51452260 single base substitution G C missense_variant L790V 2368C>G CESC-US 3 51457372 51457372 single base substitution G A missense_variant R569C 1705C>T CESC-US 3 51457372 51457372 single base substitution G A missense_variant R589C 1765C>T CESC-US 3 51457980 51457980 single base substitution C T missense_variant R366Q 1097G>A CESC-US 3 51457980 51457980 single base substitution C T missense_variant R386Q 1157G>A CESC-US 3 51458162 51458162 single base substitution G A synonymous_variant I305I 915C>T CESC-US 3 51458162 51458162 single base substitution G A synonymous_variant I325I 975C>T CLLE-ES 3 51445978 51445978 single base substitution G C intron_variant CLLE-ES 3 51457410 51457410 single base substitution T C missense_variant D556G 1667A>G CLLE-ES 3 51457410 51457410 single base substitution T C missense_variant D576G 1727A>G CLLE-ES 3 51476597 51476597 single base substitution C T intron_variant CLLE-ES 3 51500851 51500851 single base substitution T G missense_variant I77L 229A>C CLLE-ES 3 51510461 51510461 single base substitution T C intron_variant COAD-US 3 51429446 51429446 single base substitution C T downstream_gene_variant COAD-US 3 51430137 51430137 single base substitution G A downstream_gene_variant COAD-US 3 51430507 51430507 single base substitution C T downstream_gene_variant COAD-US 3 51430559 51430559 single base substitution C T downstream_gene_variant COAD-US 3 51431352 51431352 insertion of <=200bp - G downstream_gene_variant COAD-US 3 51431353 51431353 deletion of <=200bp G - downstream_gene_variant COAD-US 3 51451440 51451440 single base substitution C T missense_variant V850M 2548G>A COAD-US 3 51451440 51451440 single base substitution C T missense_variant V870M 2608G>A COAD-US 3 51452160 51452160 single base substitution A G missense_variant I803T 2408T>C COAD-US 3 51452160 51452160 single base substitution A G missense_variant I823T 2468T>C COAD-US 3 51457252 51457252 single base substitution C T missense_variant A609T 1825G>A COAD-US 3 51457252 51457252 single base substitution C T missense_variant A629T 1885G>A COAD-US 3 51457371 51457371 single base substitution C T missense_variant R569H 1706G>A COAD-US 3 51457371 51457371 single base substitution C T missense_variant R589H 1766G>A COAD-US 3 51467580 51467580 single base substitution A G intron_variant COAD-US 3 51467580 51467580 single base substitution A G missense_variant C29R 85T>C COAD-US 3 51475000 51475000 single base substitution A C intron_variant COAD-US 3 51475000 51475000 single base substitution A C missense_variant F372V 1114T>G COAD-US 3 51477862 51477862 single base substitution T C missense_variant T145A 433A>G COAD-US 3 51505005 51505005 single base substitution C A stop_gained E43* 127G>T COCA-CN 3 51430580 51430580 single base substitution C T downstream_gene_variant COCA-CN 3 51440899 51440899 single base substitution C T intron_variant COCA-CN 3 51455590 51455590 single base substitution C A missense_variant M717I 2151G>T COCA-CN 3 51455590 51455590 single base substitution C A missense_variant M737I 2211G>T COCA-CN 3 51456222 51456222 single base substitution C T synonymous_variant G666G 1998G>A COCA-CN 3 51456222 51456222 single base substitution C T synonymous_variant G686G 2058G>A COCA-CN 3 51457594 51457594 single base substitution C T missense_variant G495S 1483G>A COCA-CN 3 51457594 51457594 single base substitution C T missense_variant G515S 1543G>A COCA-CN 3 51457932 51457932 single base substitution C A missense_variant R382L 1145G>T COCA-CN 3 51457932 51457932 single base substitution C A missense_variant R402L 1205G>T COCA-CN 3 51458400 51458400 single base substitution G A missense_variant A226V 677C>T COCA-CN 3 51458400 51458400 single base substitution G A missense_variant A246V 737C>T COCA-CN 3 51458468 51458468 single base substitution T A intron_variant COCA-CN 3 51458475 51458475 single base substitution T G intron_variant COCA-CN 3 51459868 51459868 single base substitution C T intron_variant COCA-CN 3 51459868 51459868 single base substitution C T missense_variant R192H 575G>A COCA-CN 3 51466908 51466908 single base substitution C A intron_variant COCA-CN 3 51466908 51466908 single base substitution C A missense_variant E65D 195G>T COCA-CN 3 51469107 51469107 single base substitution C T intron_variant COCA-CN 3 51469107 51469107 single base substitution C T upstream_gene_variant COCA-CN 3 51469135 51469135 single base substitution C T intron_variant COCA-CN 3 51469135 51469135 single base substitution C T upstream_gene_variant COCA-CN 3 51469624 51469624 single base substitution A G intron_variant COCA-CN 3 51469624 51469624 single base substitution A G upstream_gene_variant COCA-CN 3 51471294 51471294 single base substitution A G downstream_gene_variant COCA-CN 3 51471294 51471294 single base substitution A G intron_variant COCA-CN 3 51471294 51471294 single base substitution A G upstream_gene_variant COCA-CN 3 51475168 51475168 single base substitution C T intron_variant COCA-CN 3 51475717 51475717 single base substitution A G intron_variant COCA-CN 3 51475717 51475717 single base substitution A G missense_variant M237T 710T>C COCA-CN 3 51517653 51517653 single base substitution G A intron_variant EOPC-DE 3 51455254 51455254 single base substitution T G intron_variant EOPC-DE 3 51515805 51515805 single base substitution G A intron_variant EOPC-DE 3 51516557 51516557 single base substitution A G intron_variant EOPC-DE 3 51518832 51518832 single base substitution G A intron_variant EOPC-DE 3 51518832 51518832 single base substitution G A upstream_gene_variant EOPC-DE 3 51518834 51518834 single base substitution A G intron_variant EOPC-DE 3 51518834 51518834 single base substitution A G upstream_gene_variant ESAD-UK 3 51430402 51430402 single base substitution C T downstream_gene_variant ESAD-UK 3 51436297 51436297 single base substitution A G intron_variant ESAD-UK 3 51437970 51437970 single base substitution A G intron_variant ESAD-UK 3 51438165 51438165 single base substitution C T intron_variant ESAD-UK 3 51439473 51439473 single base substitution G C intron_variant ESAD-UK 3 51439661 51439661 single base substitution G A intron_variant ESAD-UK 3 51443643 51443643 single base substitution G A intron_variant ESAD-UK 3 51444325 51444325 single base substitution G C intron_variant ESAD-UK 3 51444638 51444638 single base substitution T G intron_variant ESAD-UK 3 51451225 51451225 single base substitution A G intron_variant ESAD-UK 3 51453925 51453925 single base substitution A G intron_variant ESAD-UK 3 51454867 51454867 single base substitution C T intron_variant ESAD-UK 3 51454981 51454981 single base substitution T G intron_variant ESAD-UK 3 51455176 51455176 insertion of <=200bp - A intron_variant ESAD-UK 3 51466968 51466968 single base substitution A C intron_variant ESAD-UK 3 51467807 51467807 single base substitution A G intron_variant ESAD-UK 3 51467807 51467807 single base substitution A G upstream_gene_variant ESAD-UK 3 51469249 51469249 single base substitution A G intron_variant ESAD-UK 3 51469249 51469249 single base substitution A G upstream_gene_variant ESAD-UK 3 51472587 51472587 single base substitution A T downstream_gene_variant ESAD-UK 3 51472587 51472587 single base substitution A T intron_variant ESAD-UK 3 51472587 51472587 single base substitution A T upstream_gene_variant ESAD-UK 3 51472591 51472591 single base substitution A T downstream_gene_variant ESAD-UK 3 51472591 51472591 single base substitution A T intron_variant ESAD-UK 3 51472591 51472591 single base substitution A T upstream_gene_variant ESAD-UK 3 51474464 51474464 single base substitution A T downstream_gene_variant ESAD-UK 3 51474464 51474464 single base substitution A T intron_variant ESAD-UK 3 51474465 51474465 single base substitution T A downstream_gene_variant ESAD-UK 3 51474465 51474465 single base substitution T A intron_variant ESAD-UK 3 51477656 51477656 single base substitution T C intron_variant ESAD-UK 3 51478036 51478036 insertion of <=200bp - A intron_variant ESAD-UK 3 51480185 51480185 single base substitution A G intron_variant ESAD-UK 3 51487982 51487982 single base substitution A G intron_variant ESAD-UK 3 51489458 51489458 insertion of <=200bp - A intron_variant ESAD-UK 3 51492029 51492029 deletion of <=200bp C - intron_variant ESAD-UK 3 51493534 51493534 single base substitution A G intron_variant ESAD-UK 3 51496431 51496431 single base substitution T A intron_variant ESAD-UK 3 51496432 51496432 single base substitution C T intron_variant ESAD-UK 3 51497636 51497636 single base substitution C A intron_variant ESAD-UK 3 51501680 51501680 insertion of <=200bp - T intron_variant ESAD-UK 3 51502550 51502550 single base substitution A G intron_variant ESAD-UK 3 51503936 51503936 single base substitution C T intron_variant ESAD-UK 3 51507108 51507108 single base substitution C T intron_variant ESAD-UK 3 51508319 51508319 single base substitution C T intron_variant ESAD-UK 3 51512878 51512878 deletion of <=200bp A - intron_variant ESAD-UK 3 51518484 51518484 single base substitution G A intron_variant ESAD-UK 3 51518484 51518484 single base substitution G A upstream_gene_variant ESAD-UK 3 51522431 51522431 single base substitution C T intron_variant ESAD-UK 3 51522431 51522431 single base substitution C T upstream_gene_variant ESAD-UK 3 51525014 51525014 single base substitution G A intron_variant ESAD-UK 3 51526539 51526539 insertion of <=200bp - A intron_variant ESAD-UK 3 51527251 51527251 single base substitution C T intron_variant ESAD-UK 3 51535935 51535935 single base substitution C T upstream_gene_variant ESAD-UK 3 51536110 51536110 single base substitution T C upstream_gene_variant ESAD-UK 3 51536582 51536582 single base substitution T A upstream_gene_variant ESAD-UK 3 51536997 51536997 single base substitution A C upstream_gene_variant ESCA-CN 3 51432814 51432814 single base substitution G A downstream_gene_variant ESCA-CN 3 51471298 51471298 single base substitution A G downstream_gene_variant ESCA-CN 3 51471298 51471298 single base substitution A G intron_variant ESCA-CN 3 51471298 51471298 single base substitution A G upstream_gene_variant ESCA-CN 3 51497244 51497244 single base substitution C T splice_acceptor_variant GBM-US 3 51429849 51429849 insertion of <=200bp - A downstream_gene_variant GBM-US 3 51430156 51430156 single base substitution G A downstream_gene_variant KIRC-US 3 51455599 51455599 single base substitution A C synonymous_variant L714L 2142T>G KIRC-US 3 51455599 51455599 single base substitution A C synonymous_variant L734L 2202T>G KIRP-US 3 51431021 51431021 single base substitution A T downstream_gene_variant KIRP-US 3 51452313 51452313 single base substitution T G splice_acceptor_variant KIRP-US 3 51456171 51456171 single base substitution G T missense_variant N683K 2049C>A KIRP-US 3 51456171 51456171 single base substitution G T missense_variant N703K 2109C>A KIRP-US 3 51457622 51457622 single base substitution C G synonymous_variant R485R 1455G>C KIRP-US 3 51457622 51457622 single base substitution C G synonymous_variant R505R 1515G>C LAML-KR 3 51434889 51434889 single base substitution C T downstream_gene_variant LAML-KR 3 51434889 51434889 single base substitution C T intron_variant LAML-KR 3 51440496 51440496 single base substitution G T intron_variant LAML-KR 3 51475236 51475236 single base substitution T C intron_variant LAML-KR 3 51494558 51494558 single base substitution C A intron_variant LAML-KR 3 51494928 51494928 single base substitution A C intron_variant LAML-KR 3 51515805 51515805 single base substitution G A intron_variant LAML-KR 3 51517651 51517651 single base substitution G A intron_variant LAML-KR 3 51517653 51517653 single base substitution G A intron_variant LAML-KR 3 51538072 51538072 single base substitution G T upstream_gene_variant LICA-CN 3 51430209 51430209 single base substitution A G downstream_gene_variant LICA-CN 3 51452155 51452155 single base substitution T A stop_gained K805* 2413A>T LICA-CN 3 51452155 51452155 single base substitution T A stop_gained K825* 2473A>T LICA-CN 3 51454324 51454324 single base substitution G A missense_variant H725Y 2173C>T LICA-CN 3 51454324 51454324 single base substitution G A missense_variant H745Y 2233C>T LICA-CN 3 51466789 51466789 single base substitution A G intron_variant LICA-CN 3 51466789 51466789 single base substitution A G missense_variant I105T 314T>C LICA-FR 3 51430080 51430081 deletion of <=200bp CC - downstream_gene_variant LICA-FR 3 51438085 51438085 deletion of <=200bp T - intron_variant LICA-FR 3 51450768 51450768 single base substitution C A missense_variant R886L 2657G>T LICA-FR 3 51450768 51450768 single base substitution C A missense_variant R906L 2717G>T LICA-FR 3 51457254 51457254 single base substitution C T missense_variant R608K 1823G>A LICA-FR 3 51457254 51457254 single base substitution C T missense_variant R628K 1883G>A LICA-FR 3 51457620 51457620 single base substitution G A missense_variant P486L 1457C>T LICA-FR 3 51457620 51457620 single base substitution G A missense_variant P506L 1517C>T LICA-FR 3 51457723 51457723 single base substitution G A stop_gained R452* 1354C>T LICA-FR 3 51457723 51457723 single base substitution G A stop_gained R472* 1414C>T LICA-FR 3 51465305 51465305 single base substitution A T intron_variant LICA-FR 3 51466900 51466900 single base substitution T C intron_variant LICA-FR 3 51466900 51466900 single base substitution T C missense_variant N68S 203A>G LICA-FR 3 51468971 51468971 insertion of <=200bp - A intron_variant LICA-FR 3 51468971 51468971 insertion of <=200bp - A upstream_gene_variant LICA-FR 3 51507310 51507310 single base substitution T G intron_variant LICA-FR 3 51508801 51508801 insertion of <=200bp - TT intron_variant LICA-FR 3 51519886 51519886 single base substitution T A intron_variant LICA-FR 3 51519886 51519886 single base substitution T A upstream_gene_variant LICA-FR 3 51533901 51533901 single base substitution C A 5_prime_UTR_variant LIHC-US 3 51456168 51456168 single base substitution A G synonymous_variant C684C 2052T>C LIHC-US 3 51456168 51456168 single base substitution A G synonymous_variant C704C 2112T>C LIHC-US 3 51456190 51456190 single base substitution T C missense_variant Q677R 2030A>G LIHC-US 3 51456190 51456190 single base substitution T C missense_variant Q697R 2090A>G LINC-JP 3 51430381 51430381 single base substitution C T downstream_gene_variant LINC-JP 3 51431918 51431918 single base substitution C T downstream_gene_variant LINC-JP 3 51439554 51439554 single base substitution G T intron_variant LINC-JP 3 51450890 51450890 single base substitution C T intron_variant LINC-JP 3 51451266 51451266 single base substitution T C intron_variant LINC-JP 3 51457150 51457150 single base substitution T C intron_variant LINC-JP 3 51459331 51459331 insertion of <=200bp - T intron_variant LINC-JP 3 51459340 51459340 single base substitution C T intron_variant LINC-JP 3 51469658 51469658 single base substitution T C intron_variant LINC-JP 3 51469658 51469658 single base substitution T C upstream_gene_variant LINC-JP 3 51469669 51469669 single base substitution A C intron_variant LINC-JP 3 51469669 51469669 single base substitution A C upstream_gene_variant LINC-JP 3 51469670 51469670 single base substitution G A intron_variant LINC-JP 3 51469670 51469670 single base substitution G A upstream_gene_variant LINC-JP 3 51469925 51469925 single base substitution G C intron_variant LINC-JP 3 51469925 51469925 single base substitution G C upstream_gene_variant LINC-JP 3 51469928 51469928 single base substitution C G intron_variant LINC-JP 3 51469928 51469928 single base substitution C G upstream_gene_variant LINC-JP 3 51469934 51469934 insertion of <=200bp - T intron_variant LINC-JP 3 51469934 51469934 insertion of <=200bp - T upstream_gene_variant LINC-JP 3 51470282 51470282 single base substitution T C downstream_gene_variant LINC-JP 3 51470282 51470282 single base substitution T C intron_variant LINC-JP 3 51470282 51470282 single base substitution T C upstream_gene_variant LINC-JP 3 51471302 51471302 single base substitution G A downstream_gene_variant LINC-JP 3 51471302 51471302 single base substitution G A intron_variant LINC-JP 3 51471302 51471302 single base substitution G A upstream_gene_variant LINC-JP 3 51471438 51471438 single base substitution T C downstream_gene_variant LINC-JP 3 51471438 51471438 single base substitution T C intron_variant LINC-JP 3 51471438 51471438 single base substitution T C upstream_gene_variant LINC-JP 3 51498520 51498520 single base substitution G A intron_variant LINC-JP 3 51515357 51515357 single base substitution A C intron_variant LINC-JP 3 51515971 51515971 single base substitution C T intron_variant LINC-JP 3 51517862 51517862 single base substitution C A intron_variant LINC-JP 3 51517862 51517862 single base substitution C A upstream_gene_variant LIRI-JP 3 51432689 51432689 single base substitution T C downstream_gene_variant LIRI-JP 3 51432935 51432935 single base substitution A G downstream_gene_variant LIRI-JP 3 51433196 51433196 single base substitution A G downstream_gene_variant LIRI-JP 3 51437189 51437189 single base substitution G A intron_variant LIRI-JP 3 51437495 51437495 single base substitution A C intron_variant LIRI-JP 3 51437678 51437678 single base substitution A G intron_variant LIRI-JP 3 51439078 51439078 single base substitution C T intron_variant LIRI-JP 3 51439567 51439567 single base substitution T C intron_variant LIRI-JP 3 51441395 51441395 insertion of <=200bp - CATA intron_variant LIRI-JP 3 51441939 51441939 single base substitution A C intron_variant LIRI-JP 3 51442259 51442259 single base substitution C T intron_variant LIRI-JP 3 51443390 51443390 single base substitution C T intron_variant LIRI-JP 3 51443901 51443901 single base substitution G A intron_variant LIRI-JP 3 51446484 51446484 single base substitution C A intron_variant LIRI-JP 3 51446770 51446773 deletion of <=200bp AAGG - intron_variant LIRI-JP 3 51448051 51448051 single base substitution C T intron_variant LIRI-JP 3 51451542 51451542 single base substitution T C intron_variant LIRI-JP 3 51452033 51452033 deletion of <=200bp A - intron_variant LIRI-JP 3 51452239 51452239 single base substitution T A missense_variant N777Y 2329A>T LIRI-JP 3 51452239 51452239 single base substitution T A missense_variant N797Y 2389A>T LIRI-JP 3 51454460 51454460 single base substitution C T intron_variant LIRI-JP 3 51456274 51456283 deletion of <=200bp CAGGTGAAGC - frameshift_variant GFTC646 LIRI-JP 3 51456274 51456283 deletion of <=200bp CAGGTGAAGC - frameshift_variant GFTC666 LIRI-JP 3 51456379 51456379 single base substitution A C intron_variant LIRI-JP 3 51456697 51456697 single base substitution C T intron_variant LIRI-JP 3 51460032 51460032 single base substitution C T intron_variant LIRI-JP 3 51460054 51460054 single base substitution C A intron_variant LIRI-JP 3 51463139 51463139 single base substitution T A intron_variant LIRI-JP 3 51464010 51464010 single base substitution T C intron_variant LIRI-JP 3 51466035 51466035 single base substitution T A intron_variant LIRI-JP 3 51466225 51466225 single base substitution T A intron_variant LIRI-JP 3 51467412 51467412 single base substitution G A intron_variant LIRI-JP 3 51470667 51470667 single base substitution T G downstream_gene_variant LIRI-JP 3 51470667 51470667 single base substitution T G intron_variant LIRI-JP 3 51470667 51470667 single base substitution T G upstream_gene_variant LIRI-JP 3 51471660 51471660 single base substitution C T downstream_gene_variant LIRI-JP 3 51471660 51471660 single base substitution C T intron_variant LIRI-JP 3 51471660 51471660 single base substitution C T upstream_gene_variant LIRI-JP 3 51474017 51474017 single base substitution A C downstream_gene_variant LIRI-JP 3 51474017 51474017 single base substitution A C intron_variant LIRI-JP 3 51474647 51474647 single base substitution C G downstream_gene_variant LIRI-JP 3 51474647 51474647 single base substitution C G intron_variant LIRI-JP 3 51476606 51476606 single base substitution T C intron_variant LIRI-JP 3 51476709 51476709 single base substitution C T intron_variant LIRI-JP 3 51477832 51477832 single base substitution T C missense_variant M155V 463A>G LIRI-JP 3 51479607 51479607 single base substitution C T intron_variant LIRI-JP 3 51481907 51481907 single base substitution G A intron_variant LIRI-JP 3 51483125 51483125 single base substitution C A intron_variant LIRI-JP 3 51483961 51483961 single base substitution A G intron_variant LIRI-JP 3 51488017 51488017 single base substitution A C intron_variant LIRI-JP 3 51493296 51493296 single base substitution T A intron_variant LIRI-JP 3 51497695 51497695 single base substitution A G intron_variant LIRI-JP 3 51497993 51497993 single base substitution C A intron_variant LIRI-JP 3 51500605 51500605 single base substitution G A intron_variant LIRI-JP 3 51501061 51501061 single base substitution T C intron_variant LIRI-JP 3 51502783 51502783 single base substitution T C intron_variant LIRI-JP 3 51507692 51507692 single base substitution G T intron_variant LIRI-JP 3 51508515 51508515 single base substitution T C intron_variant LIRI-JP 3 51510556 51510556 single base substitution G T intron_variant LIRI-JP 3 51511707 51511707 single base substitution A C intron_variant LIRI-JP 3 51513411 51513411 single base substitution C A intron_variant LIRI-JP 3 51513571 51513571 single base substitution G A intron_variant LIRI-JP 3 51515510 51515510 single base substitution C T intron_variant LIRI-JP 3 51516728 51516728 single base substitution C A intron_variant LIRI-JP 3 51517479 51517479 single base substitution T G intron_variant LIRI-JP 3 51517728 51517728 single base substitution T C intron_variant LIRI-JP 3 51517728 51517728 single base substitution T C splice_region_variant LIRI-JP 3 51527652 51527652 single base substitution G A intron_variant LIRI-JP 3 51529160 51529160 single base substitution G A intron_variant LIRI-JP 3 51535246 51535246 single base substitution T C upstream_gene_variant LIRI-JP 3 51536229 51536229 single base substitution A G upstream_gene_variant LIRI-JP 3 51538360 51538360 single base substitution A G upstream_gene_variant LUSC-KR 3 51431479 51431479 single base substitution A C downstream_gene_variant LUSC-KR 3 51440380 51440380 single base substitution C A intron_variant LUSC-KR 3 51443813 51443813 single base substitution G C intron_variant LUSC-KR 3 51444580 51444580 single base substitution G A intron_variant LUSC-KR 3 51455254 51455254 single base substitution T G intron_variant LUSC-KR 3 51466600 51466600 single base substitution T C intron_variant LUSC-KR 3 51467157 51467157 single base substitution C A intron_variant LUSC-KR 3 51473476 51473476 single base substitution G T downstream_gene_variant LUSC-KR 3 51473476 51473476 single base substitution G T intron_variant LUSC-KR 3 51477417 51477417 single base substitution C A intron_variant LUSC-KR 3 51478616 51478616 single base substitution C A intron_variant LUSC-KR 3 51478654 51478654 single base substitution A C intron_variant LUSC-KR 3 51483063 51483063 single base substitution A G intron_variant LUSC-KR 3 51491054 51491054 single base substitution C A intron_variant LUSC-KR 3 51493380 51493380 single base substitution T C intron_variant LUSC-KR 3 51493568 51493568 single base substitution T C intron_variant LUSC-KR 3 51494558 51494558 single base substitution C A intron_variant LUSC-KR 3 51494626 51494626 single base substitution C T intron_variant LUSC-KR 3 51494854 51494854 single base substitution T A intron_variant LUSC-KR 3 51494922 51494922 single base substitution T C intron_variant LUSC-KR 3 51494928 51494928 single base substitution A C intron_variant LUSC-KR 3 51497196 51497196 single base substitution A G synonymous_variant T103T 309T>C LUSC-KR 3 51503351 51503351 single base substitution A G intron_variant LUSC-KR 3 51508301 51508301 single base substitution T G intron_variant LUSC-KR 3 51508350 51508350 single base substitution C T intron_variant LUSC-KR 3 51508520 51508520 single base substitution C G intron_variant LUSC-KR 3 51510394 51510394 single base substitution G A intron_variant LUSC-KR 3 51516576 51516576 single base substitution T C intron_variant LUSC-KR 3 51518717 51518717 single base substitution G T intron_variant LUSC-KR 3 51518717 51518717 single base substitution G T upstream_gene_variant LUSC-KR 3 51521076 51521076 single base substitution C T intron_variant LUSC-KR 3 51521076 51521076 single base substitution C T upstream_gene_variant LUSC-KR 3 51522452 51522452 single base substitution G T intron_variant LUSC-KR 3 51522452 51522452 single base substitution G T upstream_gene_variant LUSC-KR 3 51522494 51522494 single base substitution C A intron_variant LUSC-KR 3 51522494 51522494 single base substitution C A upstream_gene_variant LUSC-US 3 51431014 51431014 single base substitution G C downstream_gene_variant LUSC-US 3 51452138 51452138 single base substitution A G synonymous_variant N810N 2430T>C LUSC-US 3 51452138 51452138 single base substitution A G synonymous_variant N830N 2490T>C LUSC-US 3 51457744 51457744 single base substitution C T missense_variant A445T 1333G>A LUSC-US 3 51457744 51457744 single base substitution C T missense_variant A465T 1393G>A LUSC-US 3 51467502 51467502 single base substitution G A intron_variant LUSC-US 3 51467502 51467502 single base substitution G A missense_variant R55C 163C>T LUSC-US 3 51475085 51475085 single base substitution T C intron_variant LUSC-US 3 51475085 51475085 single base substitution T C splice_region_variant LUSC-US 3 51475638 51475638 single base substitution T C intron_variant LUSC-US 3 51475638 51475638 single base substitution T C synonymous_variant G263G 789A>G LUSC-US 3 51517747 51517747 single base substitution G C missense_variant P33R 98C>G MALY-DE 3 51437401 51437401 single base substitution A C intron_variant MALY-DE 3 51438408 51438408 deletion of <=200bp A - intron_variant MALY-DE 3 51455199 51455208 deletion of <=200bp AAAGGAAAGG - intron_variant MALY-DE 3 51470808 51470808 single base substitution G C downstream_gene_variant MALY-DE 3 51470808 51470808 single base substitution G C intron_variant MALY-DE 3 51470808 51470808 single base substitution G C upstream_gene_variant MALY-DE 3 51473717 51473717 single base substitution T A downstream_gene_variant MALY-DE 3 51473717 51473717 single base substitution T A intron_variant MALY-DE 3 51477345 51477345 single base substitution G A intron_variant MALY-DE 3 51482943 51482943 single base substitution T C intron_variant MALY-DE 3 51496939 51496939 single base substitution T A intron_variant MALY-DE 3 51497217 51497217 single base substitution G T missense_variant S96R 288C>A MALY-DE 3 51499398 51499398 single base substitution T A intron_variant MALY-DE 3 51508920 51508920 single base substitution C T intron_variant MALY-DE 3 51512121 51512121 single base substitution G A intron_variant MALY-DE 3 51515937 51515937 single base substitution G A intron_variant MALY-DE 3 51521865 51521868 deletion of <=200bp TATT - intron_variant MALY-DE 3 51521865 51521868 deletion of <=200bp TATT - upstream_gene_variant MALY-DE 3 51524713 51524713 single base substitution G C intron_variant MALY-DE 3 51533983 51533984 deletion of <=200bp CA - 5_prime_UTR_variant MALY-DE 3 51538342 51538342 single base substitution G A upstream_gene_variant MELA-AU 3 51429211 51429211 single base substitution G A downstream_gene_variant MELA-AU 3 51429941 51429942 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 51430972 51430972 single base substitution C T downstream_gene_variant MELA-AU 3 51431029 51431029 single base substitution C T downstream_gene_variant MELA-AU 3 51431260 51431260 single base substitution C A downstream_gene_variant MELA-AU 3 51431421 51431421 single base substitution A G downstream_gene_variant MELA-AU 3 51433078 51433078 single base substitution C T downstream_gene_variant MELA-AU 3 51433205 51433205 single base substitution C T downstream_gene_variant MELA-AU 3 51433368 51433368 single base substitution G C 3_prime_UTR_variant MELA-AU 3 51433368 51433368 single base substitution G C downstream_gene_variant MELA-AU 3 51433960 51433960 single base substitution C T 3_prime_UTR_variant MELA-AU 3 51433960 51433960 single base substitution C T downstream_gene_variant MELA-AU 3 51434712 51434712 single base substitution C T downstream_gene_variant MELA-AU 3 51434712 51434712 single base substitution C T intron_variant MELA-AU 3 51435016 51435016 single base substitution G A downstream_gene_variant MELA-AU 3 51435016 51435016 single base substitution G A intron_variant MELA-AU 3 51435032 51435032 single base substitution G A downstream_gene_variant MELA-AU 3 51435032 51435032 single base substitution G A intron_variant MELA-AU 3 51435360 51435360 single base substitution C T 3_prime_UTR_variant MELA-AU 3 51435360 51435360 single base substitution C T intron_variant MELA-AU 3 51435376 51435376 single base substitution G A 3_prime_UTR_variant MELA-AU 3 51435376 51435376 single base substitution G A intron_variant MELA-AU 3 51435888 51435888 single base substitution T C 3_prime_UTR_variant MELA-AU 3 51435888 51435888 single base substitution T C intron_variant MELA-AU 3 51436308 51436308 single base substitution A C intron_variant MELA-AU 3 51437129 51437129 single base substitution G A intron_variant MELA-AU 3 51438354 51438354 single base substitution G A intron_variant MELA-AU 3 51438381 51438381 single base substitution G A intron_variant MELA-AU 3 51439118 51439118 single base substitution G A intron_variant MELA-AU 3 51439124 51439124 single base substitution A G intron_variant MELA-AU 3 51439543 51439543 single base substitution G A intron_variant MELA-AU 3 51439544 51439544 single base substitution G A intron_variant MELA-AU 3 51439841 51439841 single base substitution G A intron_variant MELA-AU 3 51440057 51440057 single base substitution G A intron_variant MELA-AU 3 51440364 51440364 single base substitution G A intron_variant MELA-AU 3 51440463 51440463 single base substitution C T intron_variant MELA-AU 3 51440707 51440707 single base substitution G A synonymous_variant N1016N 3048C>T MELA-AU 3 51440707 51440707 single base substitution G A synonymous_variant N996N 2988C>T MELA-AU 3 51440837 51440837 single base substitution G A splice_region_variant MELA-AU 3 51441207 51441207 single base substitution G A intron_variant MELA-AU 3 51441240 51441240 single base substitution G A intron_variant MELA-AU 3 51441327 51441327 single base substitution T G intron_variant MELA-AU 3 51441600 51441600 single base substitution T C intron_variant MELA-AU 3 51441803 51441803 single base substitution G A intron_variant MELA-AU 3 51442402 51442402 single base substitution G A intron_variant MELA-AU 3 51442464 51442464 single base substitution C T intron_variant MELA-AU 3 51442659 51442659 single base substitution C T intron_variant MELA-AU 3 51442949 51442949 single base substitution G A intron_variant MELA-AU 3 51442950 51442950 single base substitution G A intron_variant MELA-AU 3 51443609 51443609 single base substitution C T intron_variant MELA-AU 3 51443709 51443709 single base substitution G A intron_variant MELA-AU 3 51443862 51443862 single base substitution G A intron_variant MELA-AU 3 51444403 51444403 single base substitution G A intron_variant MELA-AU 3 51444403 51444404 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 51445072 51445073 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 3 51445092 51445092 single base substitution A C intron_variant MELA-AU 3 51445218 51445218 single base substitution C T intron_variant MELA-AU 3 51446311 51446311 single base substitution G A intron_variant MELA-AU 3 51446896 51446896 single base substitution G A intron_variant MELA-AU 3 51447197 51447197 single base substitution G A intron_variant MELA-AU 3 51447241 51447241 single base substitution A G intron_variant MELA-AU 3 51447929 51447929 single base substitution G A intron_variant MELA-AU 3 51448045 51448045 single base substitution G A intron_variant MELA-AU 3 51448666 51448666 single base substitution G A intron_variant MELA-AU 3 51448934 51448934 single base substitution C T intron_variant MELA-AU 3 51449205 51449205 single base substitution T C intron_variant MELA-AU 3 51449219 51449219 single base substitution G A intron_variant MELA-AU 3 51449540 51449540 single base substitution G A intron_variant MELA-AU 3 51449961 51449961 single base substitution G A intron_variant MELA-AU 3 51450104 51450104 single base substitution G A intron_variant MELA-AU 3 51450856 51450856 single base substitution G A intron_variant MELA-AU 3 51451722 51451722 single base substitution C T intron_variant MELA-AU 3 51452158 51452158 single base substitution G A missense_variant H804Y 2410C>T MELA-AU 3 51452158 51452158 single base substitution G A missense_variant H824Y 2470C>T MELA-AU 3 51452523 51452523 single base substitution C T intron_variant MELA-AU 3 51453319 51453319 single base substitution G A intron_variant MELA-AU 3 51453342 51453342 single base substitution C T intron_variant MELA-AU 3 51455163 51455163 single base substitution G C intron_variant MELA-AU 3 51455248 51455248 single base substitution G A intron_variant MELA-AU 3 51455386 51455386 single base substitution A G intron_variant MELA-AU 3 51455510 51455510 single base substitution G A intron_variant MELA-AU 3 51456139 51456139 single base substitution G A missense_variant P694L 2081C>T MELA-AU 3 51456139 51456139 single base substitution G A missense_variant P714L 2141C>T MELA-AU 3 51456246 51456246 single base substitution G A synonymous_variant F658F 1974C>T MELA-AU 3 51456246 51456246 single base substitution G A synonymous_variant F678F 2034C>T MELA-AU 3 51456702 51456702 deletion of <=200bp C - intron_variant MELA-AU 3 51456794 51456794 single base substitution G A intron_variant MELA-AU 3 51457722 51457722 single base substitution C T missense_variant R452Q 1355G>A MELA-AU 3 51457722 51457722 single base substitution C T missense_variant R472Q 1415G>A MELA-AU 3 51457731 51457731 single base substitution G A missense_variant S449F 1346C>T MELA-AU 3 51457731 51457731 single base substitution G A missense_variant S469F 1406C>T MELA-AU 3 51457892 51457893 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant S395F 1184CC>TT MELA-AU 3 51457892 51457893 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant S415F 1244CC>TT MELA-AU 3 51459054 51459054 single base substitution G A intron_variant MELA-AU 3 51459768 51459768 single base substitution G A intron_variant MELA-AU 3 51459768 51459768 single base substitution G A synonymous_variant V225V 675C>T MELA-AU 3 51459907 51459907 single base substitution G A intron_variant MELA-AU 3 51459955 51459955 single base substitution A T intron_variant MELA-AU 3 51461447 51461448 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 51461487 51461487 single base substitution G A intron_variant MELA-AU 3 51461589 51461589 single base substitution G A intron_variant MELA-AU 3 51461689 51461689 single base substitution A G intron_variant MELA-AU 3 51461778 51461778 single base substitution G A intron_variant MELA-AU 3 51461923 51461923 single base substitution G A intron_variant MELA-AU 3 51462031 51462031 single base substitution G A intron_variant MELA-AU 3 51462226 51462226 single base substitution A T intron_variant MELA-AU 3 51462458 51462458 single base substitution G A intron_variant MELA-AU 3 51462786 51462786 single base substitution G A intron_variant MELA-AU 3 51463148 51463148 single base substitution G A intron_variant MELA-AU 3 51463318 51463318 single base substitution C T intron_variant MELA-AU 3 51463977 51463977 single base substitution A T intron_variant MELA-AU 3 51464046 51464046 single base substitution G A intron_variant MELA-AU 3 51464409 51464409 single base substitution G A intron_variant MELA-AU 3 51465545 51465545 single base substitution G A intron_variant MELA-AU 3 51466954 51466954 single base substitution G A intron_variant MELA-AU 3 51467254 51467254 single base substitution C T intron_variant MELA-AU 3 51468900 51468900 single base substitution G A intron_variant MELA-AU 3 51468900 51468900 single base substitution G A upstream_gene_variant MELA-AU 3 51469284 51469284 single base substitution G A intron_variant MELA-AU 3 51469284 51469284 single base substitution G A upstream_gene_variant MELA-AU 3 51469485 51469485 single base substitution G A intron_variant MELA-AU 3 51469485 51469485 single base substitution G A upstream_gene_variant MELA-AU 3 51470239 51470239 single base substitution G A downstream_gene_variant MELA-AU 3 51470239 51470239 single base substitution G A intron_variant MELA-AU 3 51470239 51470239 single base substitution G A upstream_gene_variant MELA-AU 3 51470373 51470373 single base substitution G A downstream_gene_variant MELA-AU 3 51470373 51470373 single base substitution G A intron_variant MELA-AU 3 51470373 51470373 single base substitution G A upstream_gene_variant MELA-AU 3 51471182 51471182 single base substitution G A downstream_gene_variant MELA-AU 3 51471182 51471182 single base substitution G A intron_variant MELA-AU 3 51471182 51471182 single base substitution G A upstream_gene_variant MELA-AU 3 51471352 51471352 single base substitution G A downstream_gene_variant MELA-AU 3 51471352 51471352 single base substitution G A intron_variant MELA-AU 3 51471352 51471352 single base substitution G A upstream_gene_variant MELA-AU 3 51471356 51471356 single base substitution T G downstream_gene_variant MELA-AU 3 51471356 51471356 single base substitution T G intron_variant MELA-AU 3 51471356 51471356 single base substitution T G upstream_gene_variant MELA-AU 3 51471650 51471650 single base substitution G A downstream_gene_variant MELA-AU 3 51471650 51471650 single base substitution G A intron_variant MELA-AU 3 51471650 51471650 single base substitution G A upstream_gene_variant MELA-AU 3 51472232 51472232 single base substitution G A downstream_gene_variant MELA-AU 3 51472232 51472232 single base substitution G A intron_variant MELA-AU 3 51472232 51472232 single base substitution G A upstream_gene_variant MELA-AU 3 51472690 51472690 single base substitution G A downstream_gene_variant MELA-AU 3 51472690 51472690 single base substitution G A intron_variant MELA-AU 3 51472926 51472926 single base substitution G A downstream_gene_variant MELA-AU 3 51472926 51472926 single base substitution G A intron_variant MELA-AU 3 51473191 51473191 single base substitution T A downstream_gene_variant MELA-AU 3 51473191 51473191 single base substitution T A intron_variant MELA-AU 3 51473919 51473919 single base substitution G A downstream_gene_variant MELA-AU 3 51473919 51473919 single base substitution G A intron_variant MELA-AU 3 51474928 51474940 deletion of <=200bp AAAAAAAAACAAA - downstream_gene_variant MELA-AU 3 51474928 51474940 deletion of <=200bp AAAAAAAAACAAA - intron_variant MELA-AU 3 51475494 51475494 single base substitution C T intron_variant MELA-AU 3 51475494 51475494 single base substitution C T synonymous_variant V311V 933G>A MELA-AU 3 51476043 51476043 single base substitution T C intron_variant MELA-AU 3 51476651 51476651 single base substitution G A intron_variant MELA-AU 3 51476739 51476739 single base substitution G A intron_variant MELA-AU 3 51476799 51476799 single base substitution A T intron_variant MELA-AU 3 51477106 51477106 single base substitution G A intron_variant MELA-AU 3 51480108 51480108 single base substitution C T intron_variant MELA-AU 3 51480176 51480176 single base substitution G A intron_variant MELA-AU 3 51480798 51480798 single base substitution G A intron_variant MELA-AU 3 51482368 51482368 single base substitution C T intron_variant MELA-AU 3 51482476 51482476 single base substitution G A intron_variant MELA-AU 3 51483133 51483133 single base substitution A T intron_variant MELA-AU 3 51483211 51483211 single base substitution G A intron_variant MELA-AU 3 51483220 51483220 single base substitution T A intron_variant MELA-AU 3 51483718 51483718 single base substitution G A intron_variant MELA-AU 3 51484226 51484226 deletion of <=200bp A - intron_variant MELA-AU 3 51484871 51484871 single base substitution G A intron_variant MELA-AU 3 51484959 51484959 single base substitution G A intron_variant MELA-AU 3 51485203 51485203 single base substitution G A intron_variant MELA-AU 3 51485408 51485408 single base substitution G A intron_variant MELA-AU 3 51485958 51485958 single base substitution A G intron_variant MELA-AU 3 51486726 51486727 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 51486834 51486835 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 51487742 51487742 single base substitution G C intron_variant MELA-AU 3 51487955 51487955 single base substitution G A intron_variant MELA-AU 3 51488197 51488197 single base substitution T A intron_variant MELA-AU 3 51488334 51488334 single base substitution G A intron_variant MELA-AU 3 51488535 51488535 single base substitution A C intron_variant MELA-AU 3 51488668 51488668 single base substitution G A intron_variant MELA-AU 3 51489525 51489525 single base substitution G A intron_variant MELA-AU 3 51489608 51489608 single base substitution G A intron_variant MELA-AU 3 51489832 51489832 single base substitution G A intron_variant MELA-AU 3 51489977 51489977 single base substitution C T intron_variant MELA-AU 3 51490292 51490292 single base substitution G A intron_variant MELA-AU 3 51490949 51490949 single base substitution G A intron_variant MELA-AU 3 51491032 51491032 single base substitution C T intron_variant MELA-AU 3 51491038 51491038 single base substitution G A intron_variant MELA-AU 3 51491101 51491101 single base substitution G A intron_variant MELA-AU 3 51491229 51491229 single base substitution C T intron_variant MELA-AU 3 51491447 51491447 single base substitution G C intron_variant MELA-AU 3 51491566 51491566 single base substitution G A intron_variant MELA-AU 3 51491793 51491793 single base substitution G T intron_variant MELA-AU 3 51492550 51492550 single base substitution G A intron_variant MELA-AU 3 51492904 51492904 single base substitution C T intron_variant MELA-AU 3 51493092 51493092 single base substitution G A intron_variant MELA-AU 3 51493238 51493238 single base substitution G A intron_variant MELA-AU 3 51493491 51493491 single base substitution G A intron_variant MELA-AU 3 51494339 51494339 single base substitution G A intron_variant MELA-AU 3 51494441 51494441 single base substitution G A intron_variant MELA-AU 3 51494484 51494484 single base substitution G A intron_variant MELA-AU 3 51495778 51495778 single base substitution G A intron_variant MELA-AU 3 51495961 51495961 single base substitution G A intron_variant MELA-AU 3 51495985 51495985 single base substitution G A intron_variant MELA-AU 3 51496113 51496113 single base substitution A C intron_variant MELA-AU 3 51496114 51496114 single base substitution A C intron_variant MELA-AU 3 51496886 51496886 deletion of <=200bp G - intron_variant MELA-AU 3 51497260 51497260 single base substitution G A intron_variant MELA-AU 3 51498866 51498866 single base substitution G A intron_variant MELA-AU 3 51499069 51499069 single base substitution G A intron_variant MELA-AU 3 51500739 51500739 single base substitution G A intron_variant MELA-AU 3 51500909 51500909 single base substitution G A intron_variant MELA-AU 3 51502912 51502912 single base substitution C T intron_variant MELA-AU 3 51503571 51503571 single base substitution G A intron_variant MELA-AU 3 51505027 51505027 single base substitution A C splice_region_variant MELA-AU 3 51508240 51508240 single base substitution G A intron_variant MELA-AU 3 51508355 51508355 single base substitution G A intron_variant MELA-AU 3 51509469 51509470 multiple base substitution (>=2bp and <=200bp) AA TT intron_variant MELA-AU 3 51509668 51509668 single base substitution G A intron_variant MELA-AU 3 51510062 51510062 single base substitution A C intron_variant MELA-AU 3 51510232 51510233 multiple base substitution (>=2bp and <=200bp) AA CC intron_variant MELA-AU 3 51510253 51510253 single base substitution G A intron_variant MELA-AU 3 51511207 51511207 single base substitution A C intron_variant MELA-AU 3 51511352 51511353 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 3 51512235 51512235 single base substitution G A intron_variant MELA-AU 3 51512696 51512697 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 3 51513629 51513629 single base substitution C T intron_variant MELA-AU 3 51514209 51514209 single base substitution T A intron_variant MELA-AU 3 51515084 51515084 single base substitution G A intron_variant MELA-AU 3 51515264 51515264 single base substitution A C intron_variant MELA-AU 3 51515915 51515915 single base substitution G A intron_variant MELA-AU 3 51516575 51516575 single base substitution G A intron_variant MELA-AU 3 51517505 51517505 single base substitution G A intron_variant MELA-AU 3 51517533 51517533 single base substitution G A intron_variant MELA-AU 3 51518217 51518217 single base substitution G T intron_variant MELA-AU 3 51518217 51518217 single base substitution G T upstream_gene_variant MELA-AU 3 51519200 51519200 single base substitution G A intron_variant MELA-AU 3 51519200 51519200 single base substitution G A upstream_gene_variant MELA-AU 3 51519434 51519434 single base substitution G A intron_variant MELA-AU 3 51519434 51519434 single base substitution G A upstream_gene_variant MELA-AU 3 51519455 51519456 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 51519455 51519456 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 51519850 51519850 single base substitution G A intron_variant MELA-AU 3 51519850 51519850 single base substitution G A upstream_gene_variant MELA-AU 3 51521510 51521510 single base substitution G A intron_variant MELA-AU 3 51521510 51521510 single base substitution G A upstream_gene_variant MELA-AU 3 51522284 51522284 single base substitution G A intron_variant MELA-AU 3 51522284 51522284 single base substitution G A upstream_gene_variant MELA-AU 3 51522470 51522470 single base substitution G A intron_variant MELA-AU 3 51522470 51522470 single base substitution G A upstream_gene_variant MELA-AU 3 51522485 51522485 single base substitution A T intron_variant MELA-AU 3 51522485 51522485 single base substitution A T upstream_gene_variant MELA-AU 3 51523049 51523049 single base substitution G A intron_variant MELA-AU 3 51523514 51523514 single base substitution A C intron_variant MELA-AU 3 51523849 51523849 single base substitution A G intron_variant MELA-AU 3 51524628 51524628 single base substitution A T intron_variant MELA-AU 3 51525998 51525998 single base substitution C T intron_variant MELA-AU 3 51526070 51526070 single base substitution G A intron_variant MELA-AU 3 51526351 51526351 single base substitution G A intron_variant MELA-AU 3 51526456 51526456 single base substitution G A intron_variant MELA-AU 3 51526638 51526638 single base substitution G A intron_variant MELA-AU 3 51526937 51526937 single base substitution G A intron_variant MELA-AU 3 51526986 51526986 single base substitution G A intron_variant MELA-AU 3 51527648 51527648 single base substitution A G intron_variant MELA-AU 3 51528658 51528658 single base substitution G A intron_variant MELA-AU 3 51529110 51529111 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 51529161 51529161 single base substitution A C intron_variant MELA-AU 3 51529267 51529267 single base substitution G A intron_variant MELA-AU 3 51529342 51529342 single base substitution A G intron_variant MELA-AU 3 51529520 51529520 single base substitution G A intron_variant MELA-AU 3 51529860 51529860 single base substitution G A intron_variant MELA-AU 3 51529929 51529929 single base substitution G A intron_variant MELA-AU 3 51530013 51530013 single base substitution G A intron_variant MELA-AU 3 51530238 51530238 single base substitution C T intron_variant MELA-AU 3 51530259 51530259 single base substitution G A intron_variant MELA-AU 3 51531112 51531112 single base substitution A G intron_variant MELA-AU 3 51531230 51531230 single base substitution G A intron_variant MELA-AU 3 51531380 51531380 single base substitution G A intron_variant MELA-AU 3 51531387 51531387 single base substitution G A intron_variant MELA-AU 3 51531533 51531533 single base substitution G A intron_variant MELA-AU 3 51531674 51531674 single base substitution G A intron_variant MELA-AU 3 51531862 51531862 single base substitution C T intron_variant MELA-AU 3 51532284 51532284 single base substitution G A intron_variant MELA-AU 3 51532308 51532308 single base substitution G A intron_variant MELA-AU 3 51532445 51532445 single base substitution G A intron_variant MELA-AU 3 51532513 51532513 single base substitution G A intron_variant MELA-AU 3 51534125 51534125 single base substitution G A upstream_gene_variant MELA-AU 3 51534177 51534177 single base substitution C T upstream_gene_variant MELA-AU 3 51535092 51535092 single base substitution C T upstream_gene_variant MELA-AU 3 51535306 51535306 single base substitution G A upstream_gene_variant MELA-AU 3 51535369 51535369 single base substitution C T upstream_gene_variant MELA-AU 3 51535490 51535490 single base substitution G A upstream_gene_variant MELA-AU 3 51537226 51537226 single base substitution G A upstream_gene_variant MELA-AU 3 51537244 51537244 single base substitution G A upstream_gene_variant MELA-AU 3 51537416 51537416 single base substitution C T upstream_gene_variant MELA-AU 3 51537540 51537540 single base substitution G A upstream_gene_variant MELA-AU 3 51537787 51537787 single base substitution C T upstream_gene_variant MELA-AU 3 51537859 51537859 single base substitution C T upstream_gene_variant MELA-AU 3 51538003 51538003 single base substitution G A upstream_gene_variant MELA-AU 3 51538162 51538162 single base substitution C T upstream_gene_variant MELA-AU 3 51538245 51538246 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 51538378 51538378 single base substitution A T upstream_gene_variant MELA-AU 3 51538468 51538468 single base substitution A G upstream_gene_variant MELA-AU 3 51538499 51538499 single base substitution G A upstream_gene_variant MELA-AU 3 51538515 51538515 single base substitution C T upstream_gene_variant MELA-AU 3 51538584 51538584 single base substitution G A upstream_gene_variant MELA-AU 3 51538705 51538705 single base substitution G A upstream_gene_variant ORCA-IN 3 51430029 51430029 single base substitution G A downstream_gene_variant ORCA-IN 3 51466883 51466883 single base substitution C A intron_variant ORCA-IN 3 51466883 51466883 single base substitution C A missense_variant A74S 220G>T ORCA-IN 3 51469791 51469791 single base substitution G C intron_variant ORCA-IN 3 51469791 51469791 single base substitution G C upstream_gene_variant ORCA-IN 3 51470213 51470213 single base substitution G C downstream_gene_variant ORCA-IN 3 51470213 51470213 single base substitution G C intron_variant ORCA-IN 3 51470213 51470213 single base substitution G C upstream_gene_variant ORCA-IN 3 51484120 51484120 single base substitution G C intron_variant ORCA-IN 3 51485235 51485235 single base substitution G T intron_variant ORCA-IN 3 51521221 51521221 single base substitution C T intron_variant ORCA-IN 3 51521221 51521221 single base substitution C T upstream_gene_variant ORCA-IN 3 51537699 51537699 single base substitution C A upstream_gene_variant OV-AU 3 51428686 51428686 single base substitution C G downstream_gene_variant OV-AU 3 51434216 51434216 single base substitution G A 3_prime_UTR_variant OV-AU 3 51434216 51434216 single base substitution G A downstream_gene_variant OV-AU 3 51435178 51435178 single base substitution T A downstream_gene_variant OV-AU 3 51435178 51435178 single base substitution T A intron_variant OV-AU 3 51439575 51439575 single base substitution C A intron_variant OV-AU 3 51448146 51448146 single base substitution G C intron_variant OV-AU 3 51455323 51455323 single base substitution T C intron_variant OV-AU 3 51457819 51457819 single base substitution C A missense_variant V420L 1258G>T OV-AU 3 51457819 51457819 single base substitution C A missense_variant V440L 1318G>T OV-AU 3 51464519 51464519 single base substitution T G intron_variant OV-AU 3 51474872 51474872 single base substitution A T downstream_gene_variant OV-AU 3 51474872 51474872 single base substitution A T intron_variant OV-AU 3 51476427 51476427 single base substitution G C intron_variant OV-AU 3 51479159 51479159 single base substitution A T intron_variant OV-AU 3 51484600 51484600 single base substitution C G intron_variant OV-AU 3 51484976 51484976 single base substitution A T intron_variant OV-AU 3 51486795 51486795 single base substitution A C intron_variant OV-AU 3 51487618 51487618 single base substitution A T intron_variant OV-AU 3 51491158 51491158 single base substitution G A intron_variant OV-AU 3 51496838 51496838 single base substitution T G intron_variant OV-AU 3 51517695 51517695 single base substitution G A intron_variant OV-AU 3 51523576 51523576 single base substitution G A intron_variant OV-AU 3 51530040 51530040 single base substitution G A intron_variant OV-AU 3 51531255 51531255 single base substitution G A intron_variant OV-AU 3 51531538 51531538 single base substitution G C intron_variant OV-AU 3 51533649 51533649 single base substitution G C intron_variant PACA-AU 3 51436158 51436158 single base substitution T C 3_prime_UTR_variant PACA-AU 3 51436158 51436158 single base substitution T C splice_region_variant PACA-AU 3 51441179 51441179 single base substitution G A intron_variant PACA-AU 3 51444910 51444910 deletion of <=200bp G - intron_variant PACA-AU 3 51453245 51453245 single base substitution C A intron_variant PACA-AU 3 51465238 51465238 single base substitution C T intron_variant PACA-AU 3 51474288 51474288 single base substitution C G downstream_gene_variant PACA-AU 3 51474288 51474288 single base substitution C G intron_variant PACA-AU 3 51474464 51474464 single base substitution A T downstream_gene_variant PACA-AU 3 51474464 51474464 single base substitution A T intron_variant PACA-AU 3 51486651 51486651 single base substitution G C intron_variant PACA-AU 3 51490291 51490291 single base substitution G A intron_variant PACA-AU 3 51502177 51502177 single base substitution G A intron_variant PACA-AU 3 51503757 51503757 single base substitution C T intron_variant PACA-AU 3 51508072 51508072 single base substitution G A intron_variant PACA-AU 3 51509328 51509345 deletion of <=200bp GGCCTCTGGGCCAGGCAC - intron_variant PACA-AU 3 51510486 51510486 single base substitution T G intron_variant PACA-AU 3 51515014 51515014 single base substitution G C intron_variant PACA-AU 3 51515080 51515080 single base substitution C A intron_variant PACA-AU 3 51515081 51515081 single base substitution G A intron_variant PACA-AU 3 51527287 51527287 single base substitution C T intron_variant PACA-AU 3 51528077 51528077 single base substitution G A intron_variant PACA-AU 3 51529029 51529029 single base substitution T C intron_variant PACA-AU 3 51536288 51536288 single base substitution G T upstream_gene_variant PACA-AU 3 51537795 51537795 single base substitution G A upstream_gene_variant PACA-AU 3 51538433 51538433 single base substitution G A upstream_gene_variant PACA-CA 3 51428362 51428362 single base substitution C T downstream_gene_variant PACA-CA 3 51430380 51430380 single base substitution A G downstream_gene_variant PACA-CA 3 51435730 51435730 single base substitution A G 3_prime_UTR_variant PACA-CA 3 51435730 51435730 single base substitution A G intron_variant PACA-CA 3 51439661 51439661 single base substitution G A intron_variant PACA-CA 3 51440703 51440703 single base substitution C T missense_variant G1018R 3052G>A PACA-CA 3 51440703 51440703 single base substitution C T missense_variant G998R 2992G>A PACA-CA 3 51440722 51440722 single base substitution G A synonymous_variant D1011D 3033C>T PACA-CA 3 51440722 51440722 single base substitution G A synonymous_variant D991D 2973C>T PACA-CA 3 51440953 51440953 single base substitution G A intron_variant PACA-CA 3 51444378 51444378 single base substitution A T intron_variant PACA-CA 3 51444887 51444887 single base substitution T A intron_variant PACA-CA 3 51446092 51446092 single base substitution A G intron_variant PACA-CA 3 51451501 51451501 single base substitution G A splice_region_variant PACA-CA 3 51454733 51454733 single base substitution C T intron_variant PACA-CA 3 51456279 51456279 single base substitution G A synonymous_variant F647F 1941C>T PACA-CA 3 51456279 51456279 single base substitution G A synonymous_variant F667F 2001C>T PACA-CA 3 51458722 51458722 deletion of <=200bp T - intron_variant PACA-CA 3 51463878 51463891 deletion of <=200bp CTCAAACTTCGGAC - intron_variant PACA-CA 3 51472915 51472915 single base substitution C T downstream_gene_variant PACA-CA 3 51472915 51472915 single base substitution C T intron_variant PACA-CA 3 51478706 51478706 single base substitution A G intron_variant PACA-CA 3 51481452 51481452 single base substitution A G intron_variant PACA-CA 3 51483232 51483232 insertion of <=200bp - T intron_variant PACA-CA 3 51484970 51484970 insertion of <=200bp - A intron_variant PACA-CA 3 51488784 51488784 single base substitution G T intron_variant PACA-CA 3 51491767 51491767 single base substitution C A intron_variant PACA-CA 3 51492259 51492259 single base substitution A G intron_variant PACA-CA 3 51495996 51495996 single base substitution T C intron_variant PACA-CA 3 51497353 51497353 single base substitution G T intron_variant PACA-CA 3 51501476 51501476 single base substitution G A intron_variant PACA-CA 3 51509121 51509121 deletion of <=200bp T - intron_variant PACA-CA 3 51511920 51511920 single base substitution T A intron_variant PACA-CA 3 51515166 51515166 single base substitution G A intron_variant PACA-CA 3 51518824 51518824 single base substitution G A intron_variant PACA-CA 3 51518824 51518824 single base substitution G A upstream_gene_variant PACA-CA 3 51520639 51520639 single base substitution T C intron_variant PACA-CA 3 51520639 51520639 single base substitution T C upstream_gene_variant PACA-CA 3 51521550 51521550 single base substitution T A intron_variant PACA-CA 3 51521550 51521550 single base substitution T A upstream_gene_variant PACA-CA 3 51523969 51523971 deletion of <=200bp ATT - intron_variant PACA-CA 3 51531620 51531620 single base substitution A T intron_variant PACA-CA 3 51535487 51535487 single base substitution C T upstream_gene_variant PACA-CA 3 51535796 51535796 single base substitution C T upstream_gene_variant PACA-CA 3 51536643 51536643 single base substitution A G upstream_gene_variant PACA-CA 3 51538850 51538850 single base substitution C G upstream_gene_variant PAEN-AU 3 51518785 51518785 single base substitution A C intron_variant PAEN-AU 3 51518785 51518785 single base substitution A C upstream_gene_variant PAEN-IT 3 51437372 51437372 single base substitution G C intron_variant PAEN-IT 3 51534787 51534787 single base substitution G T upstream_gene_variant PBCA-DE 3 51443968 51443968 single base substitution A T intron_variant PBCA-DE 3 51449809 51449809 single base substitution A G intron_variant PBCA-DE 3 51451726 51451726 single base substitution C A intron_variant PBCA-DE 3 51471898 51471898 single base substitution G T downstream_gene_variant PBCA-DE 3 51471898 51471898 single base substitution G T intron_variant PBCA-DE 3 51471898 51471898 single base substitution G T upstream_gene_variant PBCA-DE 3 51478706 51478706 single base substitution A G intron_variant PBCA-DE 3 51482934 51482934 insertion of <=200bp - T intron_variant PBCA-DE 3 51489976 51489976 single base substitution T G intron_variant PBCA-DE 3 51494954 51494954 deletion of <=200bp G - intron_variant PBCA-DE 3 51510538 51510538 insertion of <=200bp - A intron_variant PBCA-DE 3 51511334 51511334 deletion of <=200bp A - intron_variant PBCA-DE 3 51511523 51511523 single base substitution A C intron_variant PBCA-DE 3 51524614 51524614 single base substitution G A intron_variant PBCA-DE 3 51536573 51536573 insertion of <=200bp - A upstream_gene_variant PRAD-CA 3 51432284 51432284 single base substitution C T downstream_gene_variant PRAD-CA 3 51476566 51476566 single base substitution T A intron_variant PRAD-CA 3 51496646 51496646 single base substitution C T intron_variant PRAD-UK 3 51449357 51449357 single base substitution A T intron_variant PRAD-UK 3 51455213 51455213 single base substitution G C intron_variant PRAD-UK 3 51478009 51478009 single base substitution T A intron_variant PRAD-UK 3 51478314 51478314 single base substitution T C intron_variant PRAD-UK 3 51489006 51489006 single base substitution T C intron_variant PRAD-UK 3 51490706 51490706 single base substitution G A intron_variant PRAD-UK 3 51490927 51490927 single base substitution G T intron_variant PRAD-UK 3 51504186 51504186 single base substitution C G intron_variant PRAD-UK 3 51523267 51523267 single base substitution T C intron_variant PRAD-UK 3 51533233 51533247 deletion of <=200bp GGAAATAGACTCCAG - intron_variant PRAD-US 3 51457368 51457368 single base substitution C T missense_variant C570Y 1709G>A PRAD-US 3 51457368 51457368 single base substitution C T missense_variant C590Y 1769G>A READ-US 3 51457364 51457364 single base substitution C A missense_variant K571N 1713G>T READ-US 3 51457364 51457364 single base substitution C A missense_variant K591N 1773G>T READ-US 3 51504954 51504954 single base substitution G A stop_gained R60* 178C>T READ-US 3 51505005 51505005 single base substitution C A stop_gained E43* 127G>T RECA-EU 3 51442264 51442264 single base substitution G C intron_variant RECA-EU 3 51468820 51468820 single base substitution A T intron_variant RECA-EU 3 51468820 51468820 single base substitution A T upstream_gene_variant RECA-EU 3 51470087 51470087 single base substitution G T downstream_gene_variant RECA-EU 3 51470087 51470087 single base substitution G T intron_variant RECA-EU 3 51470087 51470087 single base substitution G T upstream_gene_variant RECA-EU 3 51474865 51474865 single base substitution T A downstream_gene_variant RECA-EU 3 51474865 51474865 single base substitution T A intron_variant RECA-EU 3 51478115 51478115 single base substitution A G intron_variant SKCA-BR 3 51437015 51437015 single base substitution G A intron_variant SKCA-BR 3 51437575 51437575 single base substitution T A intron_variant SKCA-BR 3 51438737 51438737 single base substitution G A intron_variant SKCA-BR 3 51438738 51438738 single base substitution G A intron_variant SKCA-BR 3 51438870 51438870 single base substitution G A intron_variant SKCA-BR 3 51440916 51440916 single base substitution T G intron_variant SKCA-BR 3 51441916 51441916 single base substitution T A intron_variant SKCA-BR 3 51441928 51441928 single base substitution A T intron_variant SKCA-BR 3 51441939 51441939 single base substitution A C intron_variant SKCA-BR 3 51444901 51444901 single base substitution G A intron_variant SKCA-BR 3 51446932 51446932 single base substitution G A intron_variant SKCA-BR 3 51455882 51455882 single base substitution C T intron_variant SKCA-BR 3 51468743 51468743 single base substitution T G intron_variant SKCA-BR 3 51468743 51468743 single base substitution T G upstream_gene_variant SKCA-BR 3 51469624 51469624 single base substitution A G intron_variant SKCA-BR 3 51469624 51469624 single base substitution A G upstream_gene_variant SKCA-BR 3 51470640 51470640 single base substitution G A downstream_gene_variant SKCA-BR 3 51470640 51470640 single base substitution G A intron_variant SKCA-BR 3 51470640 51470640 single base substitution G A upstream_gene_variant SKCA-BR 3 51474851 51474851 single base substitution G A downstream_gene_variant SKCA-BR 3 51474851 51474851 single base substitution G A intron_variant SKCA-BR 3 51475031 51475031 single base substitution G A intron_variant SKCA-BR 3 51475031 51475031 single base substitution G A synonymous_variant D361D 1083C>T SKCA-BR 3 51478638 51478638 single base substitution G A intron_variant SKCA-BR 3 51480979 51480979 insertion of <=200bp - AAATAATAAT intron_variant SKCA-BR 3 51490156 51490156 single base substitution G A intron_variant SKCA-BR 3 51490356 51490356 single base substitution G A intron_variant SKCA-BR 3 51496211 51496211 single base substitution G T intron_variant SKCA-BR 3 51496212 51496212 single base substitution G A intron_variant SKCA-BR 3 51496990 51496990 single base substitution C G intron_variant SKCA-BR 3 51501334 51501334 single base substitution G A intron_variant SKCA-BR 3 51502286 51502286 single base substitution C A intron_variant SKCA-BR 3 51502595 51502595 single base substitution T A intron_variant SKCA-BR 3 51503463 51503463 single base substitution C T intron_variant SKCA-BR 3 51503811 51503811 single base substitution T G intron_variant SKCA-BR 3 51505033 51505033 single base substitution G A intron_variant SKCA-BR 3 51505137 51505137 single base substitution A T intron_variant SKCA-BR 3 51506951 51506951 single base substitution G A intron_variant SKCA-BR 3 51509254 51509254 insertion of <=200bp - GA intron_variant SKCA-BR 3 51511523 51511523 single base substitution A C intron_variant SKCA-BR 3 51514614 51514614 insertion of <=200bp - CA intron_variant SKCA-BR 3 51515704 51515704 single base substitution A T intron_variant SKCA-BR 3 51517534 51517534 single base substitution G A intron_variant SKCA-BR 3 51518838 51518838 single base substitution A T intron_variant SKCA-BR 3 51518838 51518838 single base substitution A T upstream_gene_variant SKCA-BR 3 51519246 51519246 single base substitution G C intron_variant SKCA-BR 3 51519246 51519246 single base substitution G C upstream_gene_variant SKCA-BR 3 51519911 51519911 single base substitution T A intron_variant SKCA-BR 3 51519911 51519911 single base substitution T A upstream_gene_variant SKCA-BR 3 51520944 51520944 single base substitution G A intron_variant SKCA-BR 3 51520944 51520944 single base substitution G A upstream_gene_variant SKCA-BR 3 51520950 51520950 single base substitution G A intron_variant SKCA-BR 3 51520950 51520950 single base substitution G A upstream_gene_variant SKCA-BR 3 51521208 51521208 single base substitution G A intron_variant SKCA-BR 3 51521208 51521208 single base substitution G A upstream_gene_variant SKCA-BR 3 51523554 51523554 single base substitution C T intron_variant SKCA-BR 3 51525056 51525057 deletion of <=200bp GA - intron_variant SKCA-BR 3 51531104 51531104 single base substitution A G intron_variant SKCA-BR 3 51531297 51531297 single base substitution G A intron_variant SKCA-BR 3 51535759 51535759 single base substitution C T upstream_gene_variant SKCA-BR 3 51535776 51535776 single base substitution T C upstream_gene_variant SKCA-BR 3 51536729 51536729 single base substitution G A upstream_gene_variant SKCA-BR 3 51536862 51536862 single base substitution A G upstream_gene_variant SKCA-BR 3 51538282 51538282 single base substitution G A upstream_gene_variant SKCA-BR 3 51538283 51538283 single base substitution A C upstream_gene_variant SKCM-US 3 51430259 51430259 single base substitution C T downstream_gene_variant SKCM-US 3 51430285 51430285 single base substitution C T downstream_gene_variant SKCM-US 3 51430322 51430322 single base substitution C T downstream_gene_variant SKCM-US 3 51430373 51430373 single base substitution G A downstream_gene_variant SKCM-US 3 51430738 51430738 deletion of <=200bp C - downstream_gene_variant SKCM-US 3 51431421 51431421 single base substitution A G downstream_gene_variant SKCM-US 3 51440667 51440667 single base substitution C A stop_gained E1010* 3028G>T SKCM-US 3 51440667 51440667 single base substitution C A stop_gained E1030* 3088G>T SKCM-US 3 51440680 51440680 single base substitution G A synonymous_variant F1005F 3015C>T SKCM-US 3 51440680 51440680 single base substitution G A synonymous_variant F1025F 3075C>T SKCM-US 3 51450468 51450468 single base substitution G A synonymous_variant D914D 2742C>T SKCM-US 3 51450468 51450468 single base substitution G A synonymous_variant D934D 2802C>T SKCM-US 3 51456246 51456246 single base substitution G A synonymous_variant F658F 1974C>T SKCM-US 3 51456246 51456246 single base substitution G A synonymous_variant F678F 2034C>T SKCM-US 3 51456309 51456309 single base substitution G A synonymous_variant F637F 1911C>T SKCM-US 3 51456309 51456309 single base substitution G A synonymous_variant F657F 1971C>T SKCM-US 3 51458162 51458162 single base substitution G A synonymous_variant I305I 915C>T SKCM-US 3 51458162 51458162 single base substitution G A synonymous_variant I325I 975C>T SKCM-US 3 51467536 51467536 single base substitution G A intron_variant SKCM-US 3 51467536 51467536 single base substitution G A synonymous_variant A43A 129C>T SKCM-US 3 51467537 51467537 single base substitution G A intron_variant SKCM-US 3 51467537 51467537 single base substitution G A missense_variant A43V 128C>T SKCM-US 3 51475452 51475452 single base substitution G A intron_variant SKCM-US 3 51475452 51475452 single base substitution G A synonymous_variant I325I 975C>T SKCM-US 3 51475656 51475656 single base substitution G A intron_variant SKCM-US 3 51475656 51475656 single base substitution G A synonymous_variant T257T 771C>T SKCM-US 3 51475776 51475776 single base substitution G A synonymous_variant D217D 651C>T SKCM-US 3 51475813 51475813 single base substitution G A missense_variant P205L 614C>T SKCM-US 3 51475831 51475831 single base substitution C T missense_variant R199Q 596G>A SKCM-US 3 51475839 51475839 single base substitution G T synonymous_variant P196P 588C>A SKCM-US 3 51517738 51517738 single base substitution G A missense_variant T36I 107C>T STAD-US 3 51429820 51429820 single base substitution G T downstream_gene_variant STAD-US 3 51429992 51429992 single base substitution G T downstream_gene_variant STAD-US 3 51430017 51430017 single base substitution C T downstream_gene_variant STAD-US 3 51430610 51430610 single base substitution C T downstream_gene_variant STAD-US 3 51430611 51430611 single base substitution G T downstream_gene_variant STAD-US 3 51430740 51430742 deletion of <=200bp AGG - downstream_gene_variant STAD-US 3 51430882 51430882 single base substitution C T downstream_gene_variant STAD-US 3 51430939 51430939 single base substitution C T downstream_gene_variant STAD-US 3 51431126 51431126 single base substitution G A downstream_gene_variant STAD-US 3 51431424 51431424 single base substitution A G downstream_gene_variant STAD-US 3 51455629 51455629 single base substitution A G synonymous_variant S704S 2112T>C STAD-US 3 51455629 51455629 single base substitution A G synonymous_variant S724S 2172T>C STAD-US 3 51457448 51457448 deletion of <=200bp T - frameshift_variant K543 STAD-US 3 51457448 51457448 deletion of <=200bp T - frameshift_variant K563 STAD-US 3 51457448 51457448 insertion of <=200bp - T frameshift_variant K543K? STAD-US 3 51457448 51457448 insertion of <=200bp - T frameshift_variant K563K? STAD-US 3 51457615 51457615 deletion of <=200bp G - frameshift_variant Q488 STAD-US 3 51457615 51457615 deletion of <=200bp G - frameshift_variant Q508 STAD-US 3 51457723 51457723 single base substitution G A stop_gained R452* 1354C>T STAD-US 3 51457723 51457723 single base substitution G A stop_gained R472* 1414C>T STAD-US 3 51457862 51457862 single base substitution T C missense_variant I405M 1215A>G STAD-US 3 51457862 51457862 single base substitution T C missense_variant I425M 1275A>G STAD-US 3 51458110 51458110 single base substitution G T synonymous_variant R323R 967C>A STAD-US 3 51458110 51458110 single base substitution G T synonymous_variant R343R 1027C>A STAD-US 3 51458330 51458330 single base substitution A G synonymous_variant S249S 747T>C STAD-US 3 51458330 51458330 single base substitution A G synonymous_variant S269S 807T>C STAD-US 3 51458366 51458366 single base substitution G A synonymous_variant I237I 711C>T STAD-US 3 51458366 51458366 single base substitution G A synonymous_variant I257I 771C>T STAD-US 3 51464895 51464895 single base substitution A G intron_variant STAD-US 3 51464895 51464895 single base substitution A G missense_variant L163P 488T>C STAD-US 3 51464938 51464938 single base substitution A G intron_variant STAD-US 3 51464938 51464938 single base substitution A G missense_variant Y149H 445T>C STAD-US 3 51475546 51475546 single base substitution C T intron_variant STAD-US 3 51475546 51475546 single base substitution C T missense_variant R294H 881G>A STAD-US 3 51475715 51475715 single base substitution C T intron_variant STAD-US 3 51475715 51475715 single base substitution C T missense_variant E238K 712G>A STAD-US 3 51497201 51497201 single base substitution T G missense_variant N102H 304A>C THCA-SA 3 51430631 51430631 single base substitution A G downstream_gene_variant THCA-SA 3 51432268 51432268 single base substitution T C downstream_gene_variant THCA-SA 3 51533915 51533915 single base substitution C T 5_prime_UTR_variant THCA-US 3 51429678 51429678 single base substitution C T downstream_gene_variant UCEC-US 3 51430210 51430210 single base substitution C T downstream_gene_variant UCEC-US 3 51430237 51430237 single base substitution C A downstream_gene_variant UCEC-US 3 51430341 51430341 single base substitution C T downstream_gene_variant UCEC-US 3 51430381 51430381 single base substitution C G downstream_gene_variant UCEC-US 3 51430822 51430824 deletion of <=200bp CCA - downstream_gene_variant UCEC-US 3 51430840 51430840 single base substitution C T downstream_gene_variant UCEC-US 3 51430939 51430939 single base substitution C T downstream_gene_variant UCEC-US 3 51431059 51431059 single base substitution C T downstream_gene_variant UCEC-US 3 51431542 51431542 single base substitution A G downstream_gene_variant UCEC-US 3 51431559 51431559 single base substitution A G downstream_gene_variant UCEC-US 3 51431586 51431586 single base substitution T G downstream_gene_variant UCEC-US 3 51440668 51440668 single base substitution A G synonymous_variant D1009D 3027T>C UCEC-US 3 51440668 51440668 single base substitution A G synonymous_variant D1029D 3087T>C UCEC-US 3 51449845 51449845 single base substitution T A missense_variant E951D 2853A>T UCEC-US 3 51449845 51449845 single base substitution T A missense_variant E971D 2913A>T UCEC-US 3 51449893 51449893 single base substitution G A synonymous_variant C935C 2805C>T UCEC-US 3 51449893 51449893 single base substitution G A synonymous_variant C955C 2865C>T UCEC-US 3 51450502 51450502 single base substitution C T missense_variant R903Q 2708G>A UCEC-US 3 51450502 51450502 single base substitution C T missense_variant R923Q 2768G>A UCEC-US 3 51450751 51450751 single base substitution C A missense_variant D892Y 2674G>T UCEC-US 3 51450751 51450751 single base substitution C A missense_variant D912Y 2734G>T UCEC-US 3 51454240 51454240 single base substitution C T splice_donor_variant UCEC-US 3 51456130 51456130 single base substitution A G splice_donor_variant UCEC-US 3 51456222 51456222 single base substitution C T synonymous_variant G666G 1998G>A UCEC-US 3 51456222 51456222 single base substitution C T synonymous_variant G686G 2058G>A UCEC-US 3 51456331 51456331 single base substitution C A splice_acceptor_variant UCEC-US 3 51457674 51457674 single base substitution G A missense_variant A468V 1403C>T UCEC-US 3 51457674 51457674 single base substitution G A missense_variant A488V 1463C>T UCEC-US 3 51457713 51457713 single base substitution C T missense_variant R455H 1364G>A UCEC-US 3 51457713 51457713 single base substitution C T missense_variant R475H 1424G>A UCEC-US 3 51457723 51457723 single base substitution G T synonymous_variant R452R 1354C>A UCEC-US 3 51457723 51457723 single base substitution G T synonymous_variant R472R 1414C>A UCEC-US 3 51457860 51457860 single base substitution C T missense_variant R406Q 1217G>A UCEC-US 3 51457860 51457860 single base substitution C T missense_variant R426Q 1277G>A UCEC-US 3 51458180 51458180 single base substitution G C missense_variant I299M 897C>G UCEC-US 3 51458180 51458180 single base substitution G C missense_variant I319M 957C>G UCEC-US 3 51458310 51458310 single base substitution C T missense_variant G256D 767G>A UCEC-US 3 51458310 51458310 single base substitution C T missense_variant G276D 827G>A UCEC-US 3 51458366 51458366 single base substitution G T synonymous_variant I237I 711C>A UCEC-US 3 51458366 51458366 single base substitution G T synonymous_variant I257I 771C>A UCEC-US 3 51459778 51459778 single base substitution C T intron_variant UCEC-US 3 51459778 51459778 single base substitution C T missense_variant G222E 665G>A UCEC-US 3 51459868 51459868 single base substitution C A intron_variant UCEC-US 3 51459868 51459868 single base substitution C A missense_variant R192L 575G>T UCEC-US 3 51459868 51459868 single base substitution C T intron_variant UCEC-US 3 51459868 51459868 single base substitution C T missense_variant R192H 575G>A UCEC-US 3 51464927 51464927 single base substitution C T intron_variant UCEC-US 3 51464927 51464927 single base substitution C T synonymous_variant A152A 456G>A UCEC-US 3 51464969 51464969 single base substitution C A intron_variant UCEC-US 3 51464969 51464969 single base substitution C A missense_variant Q138H 414G>T UCEC-US 3 51466849 51466849 single base substitution C T intron_variant UCEC-US 3 51466849 51466849 single base substitution C T missense_variant R85H 254G>A UCEC-US 3 51475897 51475897 single base substitution C T missense_variant R177Q 530G>A UCEC-US 3 51477907 51477907 single base substitution C T missense_variant E130K 388G>A UCEC-US 3 51500836 51500836 single base substitution C A missense_variant D82Y 244G>T UCEC-US 3 51505009 51505009 single base substitution C A missense_variant L41F 123G>T UCEC-US 3 51517749 51517749 single base substitution T C synonymous_variant V32V 96A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 451 COSM1742512 c.2059C>G p.Q687E Substitution - Missense 3:51420923-51420923 - GC8_T COSM149396 c.309T>C p.T103T Substitution - coding silent 3:51463180-51463180 - NYU658 COSM4771326 c.4141G>A p.A1381T Substitution - Missense 3:51412462-51412462 - sysucc-834T COSM1046695 c.1874G>A p.R625H Substitution - Missense 3:51422417-51422417 - 8015127 COSM1159204 c.3682A>C p.K1228Q Substitution - Missense 3:51414791-51414791 - TCGA-BK-A0C9-01 COSM1046689 c.2483G>A p.G828D Substitution - Missense 3:51420499-51420499 - TCGA-22-5478-01 COSM731167 c.789A>G p.G263G Substitution - coding silent 3:51441622-51441622 - TCGA-AY-6386-01 COSM1424267 c.3065G>A p.R1022H Substitution - Missense 3:51419917-51419917 - TCGA-AR-A24H-01 COSM1485350 c.4448A>T p.D1483V Substitution - Missense 3:51403172-51403172 - TCGA-ES-A2HT-01 COSM4938758 c.3389A>G p.Q1130R Substitution - Missense 3:51418736-51418736 - sysucc-1365T COSM5766672 c.2842G>A p.G948S Substitution - Missense 3:51420140-51420140 - 2492708 COSM5399690 c.2094C>T p.N698N Substitution - coding silent 3:51420888-51420888 - PCSI_0283_Pa_P_526 COSM4807022 c.3850-4C>T p.? Unknown 3:51414047-51414047 - 587376 COSM1232301 c.3072G>T p.K1024N Substitution - Missense 3:51419910-51419910 - TCGA-BS-A0UJ-01 COSM1046692 c.2070C>A p.I690I Substitution - coding silent 3:51420912-51420912 - TCGA-AX-A05Z-01 COSM1046702 c.244G>T p.D82Y Substitution - Missense 3:51466820-51466820 - S01023 COSM5666658 c.1948G>T p.V650L Substitution - Missense 3:51422343-51422343 - TCGA-A2-A0YE-01 COSM3824250 c.2923A>G p.K975E Substitution - Missense 3:51420059-51420059 - TCGA-BG-A0LX-01 COSM1046677 c.4386T>C p.D1462D Substitution - coding silent 3:51403234-51403234 - T55 COSM4740392 c.2081G>A p.C694Y Substitution - Missense 3:51420901-51420901 - LC_S20 COSM1186306 c.781G>T p.D261Y Substitution - Missense 3:51441630-51441630 - TCGA-EI-6917-01 COSM1424273 c.127G>T p.E43* Substitution - Nonsense 3:51470989-51470989 - TCGA-AX-A0J0-01 COSM222807 c.2576G>A p.R859Q Substitution - Missense 3:51420406-51420406 - TCGA-AD-6895-01 COSM1424272 c.433A>G p.T145A Substitution - Missense 3:51443846-51443846 - TCGA-Q1-A5R1-01 COSM4818695 c.2456G>A p.R819Q Substitution - Missense 3:51420526-51420526 - CH-144-T2 COSM5650735 c.3593G>A p.G1198D Substitution - Missense 3:51416809-51416809 - T2643 COSM4740386 c.4169T>C p.L1390P Substitution - Missense 3:51412434-51412434 - TCGA-AC-A23H-01 COSM3824252 c.861C>G p.F287L Substitution - Missense 3:51441550-51441550 - BD124T COSM5224693 c.2988delA p.K996fs*16 Deletion - Frameshift 3:51419994-51419994 - T155 COSM1177087 c.3707C>T p.P1236L Substitution - Missense 3:51414766-51414766 - TCGA-F5-6814-01 COSM1232301 c.3072G>T p.K1024N Substitution - Missense 3:51419910-51419910 - TCGA-AP-A056-01 COSM1046704 c.96A>G p.V32V Substitution - coding silent 3:51483733-51483733 - AOCS-139-12-5 COSM4149982 c.2617G>T p.V873L Substitution - Missense 3:51420365-51420365 - ESCC_4 COSM5622906 c.4016G>A p.R1339Q Substitution - Missense 3:51413314-51413314 - TCGA-CM-5868-01 COSM1424273 c.127G>T p.E43* Substitution - Nonsense 3:51470989-51470989 - TCGA-EB-A3XE-01 COSM3595764 c.3333C>T p.F1111F Substitution - coding silent 3:51418792-51418792 - CHC1201T COSM4801697 c.4016G>T p.R1339L Substitution - Missense 3:51413314-51413314 - TCGA-BT-A3PJ-01 COSM3775203 c.2025C>T p.F675F Substitution - coding silent 3:51420957-51420957 - CHC1201T COSM4801697 c.4016G>T p.R1339L Substitution - Missense 3:51413314-51413314 - T2269 COSM222807 c.2576G>A p.R859Q Substitution - Missense 3:51420406-51420406 - 8012341 COSM3781658 c.1143G>C p.L381L Substitution - coding silent 3:51440272-51440272 - BD142T COSM5490946 c.2820_2821insC p.Q941fs*20 Insertion - Frameshift 3:51420161-51420162 - TCGA-QU-A6IL-01 COSM4393772 c.3068G>A p.C1023Y Substitution - Missense 3:51419914-51419914 - 587228 COSM1232297 c.4526T>C p.L1509P Substitution - Missense 3:51398779-51398779 - TCGA-BR-A4QL-01 COSM4118855 c.712G>A p.E238K Substitution - Missense 3:51441699-51441699 - T2950 COSM4740394 c.61T>C p.W21R Substitution - Missense 3:51483768-51483768 - TCGA-EJ-5518-01 COSM1131384 c.3300C>T p.F1100F Substitution - coding silent 3:51418825-51418825 - TCGA-EP-A2KB-01 COSM4921547 c.3411T>C p.C1137C Substitution - coding silent 3:51418714-51418714 - TCGA-G9-6377-01 COSM3674002 c.3272G>T p.R1091L Substitution - Missense 3:51418853-51418853 - TCGA-BQ-7053-01 COSM3993185 c.2814G>C p.R938R Substitution - coding silent 3:51420168-51420168 - ICGC_0050 COSM1159204 c.3682A>C p.K1228Q Substitution - Missense 3:51414791-51414791 - HCC094T COSM5806582 c.1613T>C p.I538T Substitution - Missense 3:51429337-51429337 - TCGA-66-2773-01 COSM731170 c.2692G>A p.A898T Substitution - Missense 3:51420290-51420290 - T1154 COSM4740390 c.2647A>G p.T883A Substitution - Missense 3:51420335-51420335 - TCGA-24-1849-01 COSM1328137 c.2334C>T p.I778I Substitution - coding silent 3:51420648-51420648 - 2176 COSM5014346 c.1817A>T p.Q606L Substitution - Missense 3:51427414-51427414 - S02291 COSM5687052 c.4117A>G p.I1373V Substitution - Missense 3:51412998-51412998 - CSCC-19-T COSM4537775 c.2631G>A p.E877E Substitution - coding silent 3:51420351-51420351 - C008 COSM5524172 c.618T>A p.L206L Substitution - coding silent 3:51441793-51441793 - sysucc-1067T COSM5479836 c.2504G>T p.R835L Substitution - Missense 3:51420478-51420478 - OSCC-GB_00020111 COSM3714582 c.1519G>T p.A507S Substitution - Missense 3:51429431-51429431 - TCGA-AG-A002-01 COSM264652 c.378G>T p.E126D Substitution - Missense 3:51443901-51443901 - 19 COSM5746134 c.616C>A p.L206I Substitution - Missense 3:51441795-51441795 - T3080 COSM4740388 c.2966G>A p.S989N Substitution - Missense 3:51420016-51420016 - 475 COSM4438393 c.2812C>T p.R938W Substitution - Missense 3:51420170-51420170 - 2492710 COSM5399690 c.2094C>T p.N698N Substitution - coding silent 3:51420888-51420888 - ME002T COSM221995 c.64G>T p.E22* Substitution - Nonsense 3:51483765-51483765 - TCGA-A8-A0A6-01 COSM3824249 c.3015A>C p.P1005P Substitution - coding silent 3:51419967-51419967 - sysucc-880T COSM5463276 c.710T>C p.M237T Substitution - Missense 3:51441701-51441701 - TCGA-B1-A655-01 COSM4414753 c.3616-2A>C p.? Unknown 3:51414859-51414859 - Pat_16_A COSM5864934 c.188-2A>G p.? Unknown 3:51466878-51466878 - S02397 COSM5699284 c.2416C>T p.H806Y Substitution - Missense 3:51420566-51420566 - TCGA-BG-A0VZ-01 COSM1046688 c.2713C>A p.R905R Substitution - coding silent 3:51420269-51420269 - TCGA-GN-A26A-06 COSM3595768 c.1427C>T p.A476V Substitution - Missense 3:51430085-51430085 - 032T COSM1728449 c.828G>T p.E276D Substitution - Missense 3:51441583-51441583 - Pat_24_A COSM5864933 c.2102C>T p.S701F Substitution - Missense 3:51420880-51420880 - TCGA-AP-A051-01 COSM1046686 c.2762C>T p.A921V Substitution - Missense 3:51420220-51420220 - PT37 COSM5918305 c.2543C>T p.S848F Substitution - Missense 3:51420439-51420439 - 587338 COSM1232299 c.4329G>C p.E1443D Substitution - Missense 3:51403291-51403291 - TCGA-BG-A0M4-01 COSM1046678 c.4212A>T p.E1404D Substitution - Missense 3:51412391-51412391 - TCGA-B5-A0JY-01 COSM1046681 c.4033G>T p.D1345Y Substitution - Missense 3:51413297-51413297 - TCGA-AP-A051-01 COSM1046693 c.1964G>A p.G655E Substitution - Missense 3:51422327-51422327 - 587316 COSM1232298 c.3736G>A p.V1246I Substitution - Missense 3:51414737-51414737 - Pat_24_B COSM5864933 c.2102C>T p.S701F Substitution - Missense 3:51420880-51420880 - PCSI_0082_Pa_X COSM1131384 c.3300C>T p.F1100F Substitution - coding silent 3:51418825-51418825 - TCGA-EE-A182-06 COSM3595769 c.975C>T p.I325I Substitution - coding silent 3:51441436-51441436 - 61 COSM5736630 c.2350C>A p.L784I Substitution - Missense 3:51420632-51420632 - TCGA-BR-8680-01 COSM4118856 c.304A>C p.N102H Substitution - Missense 3:51463185-51463185 - Pat_37_B COSM5224693 c.2988delA p.K996fs*16 Deletion - Frameshift 3:51419994-51419994 - TCGA-BG-A0M4-01 COSM1046699 c.954T>C p.L318L Substitution - coding silent 3:51441457-51441457 - T2932 COSM4740391 c.2082_2083delTG p.C694fs*4 Deletion - Frameshift 3:51420899-51420900 - ME009T COSM222807 c.2576G>A p.R859Q Substitution - Missense 3:51420406-51420406 - MSK-PCa3_organoid COSM5423685 c.679G>C p.D227H Substitution - Missense 3:51441732-51441732 - TCGA-BH-A0W7-01 COSM446776 c.3419C>G p.S1140* Substitution - Nonsense 3:51418706-51418706 - 587338 COSM1232300 c.2728G>A p.A910T Substitution - Missense 3:51420254-51420254 - 46M COSM5589338 c.2865C>T p.S955S Substitution - coding silent 3:51420117-51420117 - CHC1185T COSM4118847 c.2713C>T p.R905* Substitution - Nonsense 3:51420269-51420269 - TCGA-BR-4361-01 COSM4118850 c.2106T>C p.S702S Substitution - coding silent 3:51420876-51420876 - CHC1207T COSM4800014 c.1502A>G p.N501S Substitution - Missense 3:51429448-51429448 - 8012342 COSM3781658 c.1143G>C p.L381L Substitution - coding silent 3:51440272-51440272 - YUNEKI COSM5399692 c.1904C>T p.T635I Substitution - Missense 3:51422387-51422387 - TCGA-B5-A0JY-01 COSM1046685 c.3249-1G>T p.? Unknown 3:51418877-51418877 - YULOCUS COSM5399689 c.2095C>T p.R699* Substitution - Nonsense 3:51420887-51420887 - TCGA-DS-A0VM-01 COSM460760 c.3064C>T p.R1022C Substitution - Missense 3:51419918-51419918 - TCGA-BR-8591-01 COSM4118852 c.1787T>C p.L596P Substitution - Missense 3:51427444-51427444 - TCGA-33-4582-01 COSM731166 c.98C>G p.P33R Substitution - Missense 3:51483731-51483731 - YULOCUS COSM5399690 c.2094C>T p.N698N Substitution - coding silent 3:51420888-51420888 - HN_62739 COSM130165 c.2374C>A p.Q792K Substitution - Missense 3:51420608-51420608 - 290 COSM146092 c.229A>C p.I77L Substitution - Missense 3:51466835-51466835 - TCGA-DA-A1I4-06 COSM3595762 c.4374C>T p.F1458F Substitution - coding silent 3:51403246-51403246 - TCGA-AC-A23H-01 COSM3824248 c.3967G>A p.D1323N Substitution - Missense 3:51413363-51413363 - AOCS-139-1-5 COSM4149982 c.2617G>T p.V873L Substitution - Missense 3:51420365-51420365 - TCGA-AP-A056-01 COSM222807 c.2576G>A p.R859Q Substitution - Missense 3:51420406-51420406 - 2492709 COSM5399690 c.2094C>T p.N698N Substitution - coding silent 3:51420888-51420888 - TCGA-AP-A059-01 COSM1046687 c.2723G>A p.R908H Substitution - Missense 3:51420259-51420259 - YUOMEGA COSM5399688 c.2698C>T p.P900S Substitution - Missense 3:51420284-51420284 - KM12 COSM2851927 c.2829G>A p.P943P Substitution - coding silent 3:51420153-51420153 - TCGA-AX-A0J1-01 COSM1046682 c.3615+1G>A p.? Unknown 3:51416786-51416786 - TCGA-CG-4306-01 COSM4118853 c.1744T>C p.Y582H Substitution - Missense 3:51427487-51427487 - TCGA-34-5239-01 COSM731168 c.1029A>G p.L343L Substitution - coding silent 3:51441069-51441069 - TCGA-D1-A17H-01 COSM1046683 c.3447+2T>C p.? Unknown 3:51418676-51418676 - TCGA-FS-A1ZC-06 COSM3595767 c.1428C>T p.A476A Substitution - coding silent 3:51430084-51430084 - TCGA-A3-3387-01 COSM480260 c.117T>C p.S39S Substitution - coding silent 3:51470999-51470999 - GC_356T-GC_356N COSM4774553 c.3963_3971delTGAAGATGA p.E1322_D1324delEDD Deletion - In frame 3:51413359-51413367 - TCGA-A8-A07R-01 COSM446775 c.3952C>T p.Q1318* Substitution - Nonsense 3:51413378-51413378 - TCGA-G4-6309-01 COSM1424265 c.3767T>C p.I1256T Substitution - Missense 3:51414706-51414706 - TCGA-BR-6457-01 COSM4118848 c.2574A>G p.I858M Substitution - Missense 3:51420408-51420408 - TCGA-GN-A269-01 COSM3595775 c.107C>T p.T36I Substitution - Missense 3:51483722-51483722 - PCSI_0076_Pa_P COSM3380639 c.4351G>A p.G1451R Substitution - Missense 3:51403269-51403269 - PT53 COSM5931427 c.409C>T p.R137* Substitution - Nonsense 3:51443870-51443870 - TCGA-GN-A265-06 COSM3595773 c.596G>A p.R199Q Substitution - Missense 3:51441815-51441815 - HCT8 COSM2851934 c.2617G>A p.V873M Substitution - Missense 3:51420365-51420365 - DLD1 COSM2851934 c.2617G>A p.V873M Substitution - Missense 3:51420365-51420365 - YUTUCO COSM3595762 c.4374C>T p.F1458F Substitution - coding silent 3:51403246-51403246 - TCGA-ER-A194-01 COSM3595770 c.771C>T p.T257T Substitution - coding silent 3:51441640-51441640 - CSCC-27-T COSM4486638 c.3252C>T p.F1084F Substitution - coding silent 3:51418873-51418873 - TCGA-BS-A0UA-01 COSM1046691 c.2126G>A p.G709D Substitution - Missense 3:51420856-51420856 - TCGA-BS-A0TC-01 COSM1046703 c.123G>T p.L41F Substitution - Missense 3:51470993-51470993 - TCGA-D3-A5GO-06 COSM3595766 c.2274C>T p.I758I Substitution - coding silent 3:51420708-51420708 - TCGA-D3-A3C8-06 COSM3595772 c.614C>T p.P205L Substitution - Missense 3:51441797-51441797 - TCGA-18-3409-01 COSM731169 c.1462C>T p.R488C Substitution - Missense 3:51430050-51430050 - TCGA-CG-4306-01 COSM4118846 c.3471T>C p.S1157S Substitution - coding silent 3:51418175-51418175 - CHC798T COSM4958300 c.2816C>T p.P939L Substitution - Missense 3:51420166-51420166 - TCGA-AP-A0LP-01 COSM1046694 c.1874G>T p.R625L Substitution - Missense 3:51422417-51422417 - TCGA-AP-A0LD-01 COSM1046701 c.388G>A p.E130K Substitution - Missense 3:51443891-51443891 - 2334191 COSM324251 c.719C>T p.S240F Substitution - Missense 3:51441692-51441692 - KPOPBR-19-T COSM5964405 c.3081T>G p.V1027V Substitution - coding silent 3:51419901-51419901 - TCGA-AP-A0LM-01 COSM1046698 c.1553G>A p.R518H Substitution - Missense 3:51429397-51429397 - TCGA-EW-A1IZ-01 COSM1485351 c.3670G>A p.A1224T Substitution - Missense 3:51414803-51414803 - 2521259 COSM5889975 c.265G>A p.V89M Substitution - Missense 3:51463224-51463224 - CHC1207T COSM4800014 c.1502A>G p.N501S Substitution - Missense 3:51429448-51429448 - PT48 COSM5931427 c.409C>T p.R137* Substitution - Nonsense 3:51443870-51443870 - CHC892T COSM4795800 c.3182G>A p.R1061K Substitution - Missense 3:51419800-51419800 - CSCC-32-T COSM4547032 c.4305G>T p.Q1435H Substitution - Missense 3:51403315-51403315 - PTC-14C COSM4158186 c.2482G>T p.G828C Substitution - Missense 3:51420500-51420500 - LUAD-S00488 COSM395272 c.2429G>T p.C810F Substitution - Missense 3:51420553-51420553 - TCGA-CA-6718-01 COSM1424266 c.3184G>A p.A1062T Substitution - Missense 3:51419798-51419798 - EWS502 COSM4584497 c.4472G>A p.G1491E Substitution - Missense 3:51403148-51403148 - TCGA-A6-6653-01 COSM1424264 c.3907G>A p.V1303M Substitution - Missense 3:51413986-51413986 - TCGA-AA-A010-01 COSM286453 c.359T>C p.V120A Substitution - Missense 3:51463130-51463130 - TCGA-EB-A5UM-01 COSM3595771 c.651C>T p.D217D Substitution - coding silent 3:51441760-51441760 - PAPNNX COSM3595773 c.596G>A p.R199Q Substitution - Missense 3:51441815-51441815 - CSCC-44-T COSM4546856 c.4267G>A p.D1423N Substitution - Missense 3:51403353-51403353 - TCGA-BT-A2LB-01 COSM3775204 c.1822A>C p.I608L Substitution - Missense 3:51427409-51427409 - HCC074T COSM5810150 c.3772A>T p.K1258* Substitution - Nonsense 3:51414701-51414701 - HT115 COSM222807 c.2576G>A p.R859Q Substitution - Missense 3:51420406-51420406 - TCGA-D1-A0ZS-01 COSM1046695 c.1874G>A p.R625H Substitution - Missense 3:51422417-51422417 - CSCC-20-T COSM4483362 c.2866C>T p.P956S Substitution - Missense 3:51420116-51420116 - YUOTHO COSM5399691 c.1940C>T p.S647L Substitution - Missense 3:51422351-51422351 - SC_9008 COSM5549460 c.2280C>A p.A760A Substitution - coding silent 3:51420702-51420702 - LC_C27 COSM1186305 c.1682C>T p.P561L Substitution - Missense 3:51429268-51429268 - TCGA-EE-A184-06 COSM3595774 c.588C>A p.P196P Substitution - coding silent 3:51441823-51441823 - COLO-829 COSM36856 c.926C>T p.P309L Substitution - Missense 3:51441485-51441485 - TCGA-A2-A4RW-01 COSM3824251 c.1705C>T p.H569Y Substitution - Missense 3:51427526-51427526 - LC_S11 COSM1186304 c.2931A>T p.R977S Substitution - Missense 3:51420051-51420051 - MO_1012 COSM5547917 c.1255-10delA p.? Unknown 3:51439701-51439701 - RK120_C01 COSM3702453 c.463A>G p.M155V Substitution - Missense 3:51443816-51443816 - TCGA-AP-A059-01 COSM1046700 c.530G>A p.R177Q Substitution - Missense 3:51441881-51441881 - TCGA-21-5782-01 COSM731171 c.3789T>C p.N1263N Substitution - coding silent 3:51414684-51414684 - RK023_C01 COSM1633244 c.3688A>T p.N1230Y Substitution - Missense 3:51414785-51414785 - DLD1 COSM2851939 c.1963G>A p.G655R Substitution - Missense 3:51422328-51422328 - 290-1950-01TD COSM146092 c.229A>C p.I77L Substitution - Missense 3:51466835-51466835 - CHC798T COSM4958300 c.2816C>T p.P939L Substitution - Missense 3:51420166-51420166 - U2940 COSM5622137 c.2840C>T p.P947L Substitution - Missense 3:51420142-51420142 - TCGA-BT-A2LD-01 COSM1309309 c.2813G>A p.R938Q Substitution - Missense 3:51420169-51420169 - BD124T COSM5490946 c.2820_2821insC p.Q941fs*20 Insertion - Frameshift 3:51420161-51420162 - B24-Tumor COSM4005580 c.2205C>A p.S735S Substitution - coding silent 3:51420777-51420777 - ESCC_125 COSM5641154 c.1454A>C p.D485A Substitution - Missense 3:51430058-51430058 - 3N61-VS-3T61 COSM4984382 c.2541C>T p.I847I Substitution - coding silent 3:51420441-51420441 - 4_RESISTANT COSM1724694 c.1985-9delT p.? Unknown 3:51421006-51421006 - LUAD-NYU284 COSM373112 c.4390G>A p.E1464K Substitution - Missense 3:51403230-51403230 - TCGA-CG-5728-01 COSM4118849 c.2326C>A p.R776R Substitution - coding silent 3:51420656-51420656 - TCGA-BS-A0UV-01 COSM1046680 c.4067G>A p.R1356Q Substitution - Missense 3:51413048-51413048 - CSCC-15-T COSM4481823 c.2718C>T p.T906T Substitution - coding silent 3:51420264-51420264 - TCGA-A6-6653-01 COSM1424268 c.1384T>C p.C462R Substitution - Missense 3:51430128-51430128 - LUAD-B00859 COSM332429 c.2852A>G p.Y951C Substitution - Missense 3:51420130-51420130 - SC_9047 COSM5560247 c.338T>C p.M113T Substitution - Missense 3:51463151-51463151 - HCT15 COSM2851934 c.2617G>A p.V873M Substitution - Missense 3:51420365-51420365 - TCGA-IR-A3LH-01 COSM3595766 c.2274C>T p.I758I Substitution - coding silent 3:51420708-51420708 - TCGA-B5-A11E-01 COSM1046679 c.4164C>T p.C1388C Substitution - coding silent 3:51412439-51412439 - Pat_45_B COSM5864931 c.3203G>A p.G1068E Substitution - Missense 3:51419779-51419779 - sysucc-1072T COSM5482930 c.2036C>T p.A679V Substitution - Missense 3:51420946-51420946 - CHC1185T COSM4118847 c.2713C>T p.R905* Substitution - Nonsense 3:51420269-51420269 - TCGA-D8-A1XM-01 COSM1485352 c.2072A>G p.N691S Substitution - Missense 3:51420910-51420910 - 587222 COSM1046700 c.530G>A p.R177Q Substitution - Missense 3:51441881-51441881 - TCGA-BR-4267-01 COSM4118851 c.2070C>T p.I690I Substitution - coding silent 3:51420912-51420912 - TCGA-AG-A002-01 COSM264653 c.116C>A p.S39Y Substitution - Missense 3:51471000-51471000 - CSCC-57-T COSM4511237 c.861C>T p.F287F Substitution - coding silent 3:51441550-51441550 - TCGA-B6-A0IQ-01 COSM446777 c.2285C>A p.A762D Substitution - Missense 3:51420697-51420697 - CHC892T COSM4795800 c.3182G>A p.R1061K Substitution - Missense 3:51419800-51419800 - ESCC-190T COSM3940583 c.262-1G>A p.? Unknown 3:51463228-51463228 - PT32 COSM5907304 c.4189C>T p.R1397C Substitution - Missense 3:51412414-51412414 - CSCC-54-T COSM4490356 c.3798C>T p.I1266I Substitution - coding silent 3:51414675-51414675 - T3535 COSM2851909 c.4015C>T p.R1339* Substitution - Nonsense 3:51413315-51413315 - TCGA-BS-A0UF-01 COSM1046696 c.1755G>A p.A585A Substitution - coding silent 3:51427476-51427476 - CSCC-27-T COSM4479434 c.2495C>T p.S832F Substitution - Missense 3:51420487-51420487 - TCGA-BQ-7058-01 COSM3993184 c.3408C>A p.N1136K Substitution - Missense 3:51418717-51418717 - T3503 COSM4740387 c.3923C>T p.T1308M Substitution - Missense 3:51413970-51413970 - TCGA-EI-6917-01 COSM3427728 c.178C>T p.R60* Substitution - Nonsense 3:51470938-51470938 - 3N09-VS-3T09 COSM4979253 c.529C>T p.R177* Substitution - Nonsense 3:51441882-51441882 - 2T COSM3714582 c.1519G>T p.A507S Substitution - Missense 3:51429431-51429431 - HCT15 COSM2851939 c.1963G>A p.G655R Substitution - Missense 3:51422328-51422328 - TCGA-BR-4184-01 COSM4118854 c.881G>A p.R294H Substitution - Missense 3:51441530-51441530 - HCC025T COSM5803521 c.3532C>T p.H1178Y Substitution - Missense 3:51416870-51416870 - TCGA-AB-2839-03 COSM1318657 c.1589A>G p.K530R Substitution - Missense 3:51429361-51429361 - Pat_41_B COSM5864932 c.2633C>T p.A878V Substitution - Missense 3:51420349-51420349 - TCGA-EE-A29R-06 COSM3595765 c.3270C>T p.F1090F Substitution - coding silent 3:51418855-51418855 - PT32 COSM5943707 c.4191delT p.L1398fs*31 Deletion - Frameshift 3:51412412-51412412 - AOCS-139-6-3 COSM4149982 c.2617G>T p.V873L Substitution - Missense 3:51420365-51420365 - TCGA-D1-A103-01 COSM1046684 c.3357G>A p.G1119G Substitution - coding silent 3:51418768-51418768 - 193-01-1TD COSM146091 c.3026A>G p.D1009G Substitution - Missense 3:51419956-51419956 - tumor_4107137 COSM3357728 c.288C>A p.S96R Substitution - Missense 3:51463201-51463201 - RK280_C01 COSM4944406 c.110+7A>G p.? Unknown 3:51483712-51483712 - T2269 COSM4740393 c.1991G>A p.S664N Substitution - Missense 3:51420991-51420991 - TCGA-AP-A059-01 COSM222807 c.2576G>A p.R859Q Substitution - Missense 3:51420406-51420406 - TCGA-AP-A059-01 COSM1046697 c.1713G>T p.Q571H Substitution - Missense 3:51427518-51427518 - PT15_1 COSM5897479 c.2864C>T p.S955F Substitution - Missense 3:51420118-51420118 - CSCC-7-T COSM4490476 c.3814C>T p.P1272S Substitution - Missense 3:51414659-51414659 - TCGA-BP-4770-01 COSM480259 c.3501T>G p.L1167L Substitution - coding silent 3:51418145-51418145 - ESCC_8 COSM5623503 c.764C>A p.S255* Substitution - Nonsense 3:51441647-51441647 - HCC2998 COSM2851946 c.1495A>C p.I499L Substitution - Missense 3:51429455-51429455 - TCGA-B7-5816-01 COSM4118847 c.2713C>T p.R905* Substitution - Nonsense 3:51420269-51420269 - SC_9047 COSM5571349 c.2493T>C p.V831V Substitution - coding silent 3:51420489-51420489 - TCGA-09-2049-01 COSM73256 c.73C>T p.H25Y Substitution - Missense 3:51483756-51483756 - TCGA-GF-A2C7-01 COSM3595763 c.4101C>T p.D1367D Substitution - coding silent 3:51413014-51413014 - T36 COSM4740389 c.2821_2822insC p.Q941fs*20 Insertion - Frameshift 3:51420160-51420161 - 66 COSM5742958 c.2831T>G p.L944R Substitution - Missense 3:51420151-51420151 - A1 COSM5350999 c.3202G>T p.G1068* Substitution - Nonsense 3:51419780-51419780 - TCGA-G4-6309-01 COSM1424269 c.1114T>G p.F372V Substitution - Missense 3:51440984-51440984 - 193 COSM146091 c.3026A>G p.D1009G Substitution - Missense 3:51419956-51419956 - TCGA-EE-A184-06 COSM3595761 c.4387G>T p.E1463* Substitution - Nonsense 3:51403233-51403233 - TCGA-FI-A2F8-01 COSM1046690 c.2256C>G p.I752M Substitution - Missense 3:51420726-51420726 - D28 COSM5546107 c.3102C>T p.S1034S Substitution - coding silent 3:51419880-51419880 - LUAD-E00934 COSM393618 c.3015A>T p.P1005P Substitution - coding silent 3:51419967-51419967 - Pat_11_B COSM5224693 c.2988delA p.K996fs*16 Deletion - Frameshift 3:51419994-51419994 - TCGA-A5-A0VP-01 COSM1046696 c.1755G>A p.A585A Substitution - coding silent 3:51427476-51427476 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.716560;Hs.716562;Hs.716566;Hs.716569;Hs.716570;Hs.716577;Hs.716590;Hs.716593;Hs.716603;Hs.716605;Hs.716610;Hs.716614;Hs.716615;Hs.716617;Hs.716620;Hs.716621;Hs.716623 3p21.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.L734L c.2202T>G 3 51455599 RCCC A G SpliceDonorSNV . c.2148+2T>C 3 51456130 UCEC A G Synonymous p.D1029D c.3087T>C 3 51440668 UCEC A G Synonymous p.N830N c.2490T>C 3 51452138 LUSC A G Synonymous p.S724S c.2172T>C 3 51455629 STAD C A Missense p.E1052D c.3156G>T 3 51440599 LUAD C A Missense p.R658L c.1973G>T 3 51456307 PRAD C A Nonsense p.E1030* c.3088G>T 3 51440667 CM C A Nonsense p.E533* c.1597G>T 3 51457540 LUAD C G Missense p.G902R c.2704G>C 3 51450781 HNSC C G Missense p.L45F c.135G>C 3 51467530 CM C T Missense p.A465T c.1393G>A 3 51457744 LUSC C T Missense p.A886T c.2656G>A 3 51450829 HNSC C T Missense p.C590Y c.1769G>A 3 51457368 PRAD C T Missense p.D1001N c.3001G>A 3 51440754 COREAD C T Missense p.G276D c.827G>A 3 51458310 UCEC C T Missense p.R266Q c.797G>A 3 51458340 CM C T Missense p.R426Q c.1277G>A 3 51457860 CM C T Missense p.R505Q c.1514G>A 3 51457623 BLCA G A Missense p.P278S c.832C>T 3 51458305 ALL G A Missense p.T32I c.95C>T 3 51467570 CM G A Nonsense p.Q885* c.2653C>T 3 51450832 BRCA G A Nonsense p.R472* c.1414C>T 3 51457723 STAD G A Synonymous p.D934D c.2802C>T 3 51450468 CM G A Synonymous p.F1025F c.3075C>T 3 51440680 CM G A Synonymous p.F657F c.1971C>T 3 51456309 CM G A Synonymous p.I257I c.771C>T 3 51458366 STAD G A Synonymous p.S268S c.804C>T 3 51458333 CM G A Synonymous p.S314S c.942C>T 3 51458195 CM G C Missense p.I319M c.957C>G 3 51458180 UCEC G C Nonsense p.S707* c.2120C>G 3 51456160 BRCA GG AA Missense p.P900L c.2699_2700delinsTT 3 51450785 CM G T Missense p.A329D c.986C>A 3 51458151 BRCA G T Missense p.Q359K c.1075C>A 3 51458062 HNSC G T Synonymous p.R343R c.1027C>A 3 51458110 STAD G T Synonymous p.R472R c.1414C>A 3 51457723 UCEC T A Missense p.D1050V c.3149A>T 3 51440606 BRCA T A Missense p.E971D c.2913A>T 3 51449845 UCEC T A Missense p.N797Y c.2389A>T 3 51452239 HC T C Missense p.D576G c.1727A>G 3 51457410 CLL T C Missense p.I425M c.1275A>G 3 51457862 STAD T C Missense p.N258S c.773A>G 3 51458364 BRCA T C Missense p.Y936C c.2807A>G 3 51450463 COREAD T C Synonymous p.P593P c.1779A>G 3 51457358 LUAD T G Missense p.K795Q c.2383A>C 3 51452245 PAAD