Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 22 30730592 30730592 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr22:30730592C>T c.2373G>A c.(2371-2373)agG>agA p.R791R BLCA 22 30731722 30731722 + Silent SNP G G C TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr22:30731722G>C c.2127C>G c.(2125-2127)gtC>gtG p.V709V BLCA 22 30733035 30733035 + Nonsense_Mutation SNP C C A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr22:30733035C>A c.2086G>T c.(2086-2088)Gag>Tag p.E696* BLCA 22 30733138 30733138 + Silent SNP G G T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 g.chr22:30733138G>T c.1983C>A c.(1981-1983)gtC>gtA p.V661V BLCA 22 30735229 30735229 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr22:30735229C>G c.1387G>C c.(1387-1389)Gag>Cag p.E463Q BLCA 22 30738222 30738222 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 g.chr22:30738222C>T c.844G>A c.(844-846)Gtg>Atg p.V282M BLCA 22 30741064 30741064 + Missense_Mutation SNP G G A TCGA-FD-A6TK-01A-42D-A339-08 TCGA-FD-A6TK-10A-21D-A339-08 g.chr22:30741064G>A c.509C>T c.(508-510)aCg>aTg p.T170M BLCA 22 30741131 30741131 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 g.chr22:30741131G>A c.442C>T c.(442-444)Cct>Tct p.P148S BLCA 22 30742444 30742444 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 g.chr22:30742444G>C c.250C>G c.(250-252)Ctg>Gtg p.L84V BLCA 22 30748978 30748978 + Silent SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 g.chr22:30748978G>C c.147C>G c.(145-147)gtC>gtG p.V49V BRCA 22 30733776 30733776 + Silent SNP C C T TCGA-D8-A1XZ-01A-11D-A14K-09 TCGA-D8-A1XZ-10A-01D-A14K-09 g.chr22:30733776C>T c.1854G>A c.(1852-1854)ccG>ccA p.P618P BRCA 22 30733834 30733834 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr22:30733834C>T c.1796G>A c.(1795-1797)cGg>cAg p.R599Q BRCA 22 30736331 30736331 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr22:30736331T>C c.1229A>G c.(1228-1230)tAt>tGt p.Y410C CESC 22 30736706 30736706 + Silent SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr22:30736706G>C c.1167C>G c.(1165-1167)gtC>gtG p.V389V COAD 22 30733706 30733706 + Frame_Shift_Del DEL G G - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr22:30733706delG c.1924delC c.(1924-1926)cgcfs p.R642fs COAD 22 30733726 30733726 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr22:30733726G>A c.1904C>T c.(1903-1905)gCc>gTc p.A635V COAD 22 30734826 30734826 + Silent SNP G G A TCGA-AA-3844-01A-01W-0995-10 TCGA-AA-3844-10A-01W-0995-10 g.chr22:30734826G>A c.1695C>T c.(1693-1695)aaC>aaT p.N565N COAD 22 30734847 30734847 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr22:30734847C>T c.1674G>A c.(1672-1674)ccG>ccA p.P558P COAD 22 30734990 30734990 + Missense_Mutation SNP G G A TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr22:30734990G>A c.1531C>T c.(1531-1533)Cgg>Tgg p.R511W COAD 22 30735119 30735119 + Splice_Site SNP C C A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr22:30735119C>A c.1497G>T c.(1495-1497)aaG>aaT p.K499N COAD 22 30735182 30735182 + Silent SNP A A G TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr22:30735182A>G c.1434T>C c.(1432-1434)ggT>ggC p.G478G COAD 22 30735183 30735183 + Missense_Mutation SNP C C A TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr22:30735183C>A c.1433G>T c.(1432-1434)gGt>gTt p.G478V COAD 22 30735184 30735184 + Missense_Mutation SNP C C A TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr22:30735184C>A c.1432G>T c.(1432-1434)Ggt>Tgt p.G478C COAD 22 30735202 30735202 + Missense_Mutation SNP G G A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr22:30735202G>A c.1414C>T c.(1414-1416)Cgg>Tgg p.R472W COAD 22 30737865 30737865 + Missense_Mutation SNP G G T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr22:30737865G>T c.887C>A c.(886-888)cCt>cAt p.P296H COAD 22 30741064 30741064 + Missense_Mutation SNP G G A TCGA-AA-3980-01A-02W-0995-10 TCGA-AA-3980-10A-01W-0999-10 g.chr22:30741064G>A c.509C>T c.(508-510)aCg>aTg p.T170M COAD 22 30742327 30742328 + In_Frame_Ins INS - - CTG TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr22:30742327_30742328insCTG c.366_367insCAG c.(364-369)cagacc>cagCAGacc p.122_123insQ COAD 22 30742466 30742466 + Silent SNP G G A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr22:30742466G>A c.228C>T c.(226-228)atC>atT p.I76I COAD 22 30752746 30752746 + Silent SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr22:30752746C>T c.36G>A c.(34-36)ccG>ccA p.P12P COADREAD 22 30733706 30733706 + Frame_Shift_Del DEL G G - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr22:30733706delG c.1924delC c.(1924-1926)cgcfs p.R642fs COADREAD 22 30733726 30733726 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr22:30733726G>A c.1904C>T c.(1903-1905)gCc>gTc p.A635V COADREAD 22 30734826 30734826 + Silent SNP G G A TCGA-AA-3844-01A-01W-0995-10 TCGA-AA-3844-10A-01W-0995-10 g.chr22:30734826G>A c.1695C>T c.(1693-1695)aaC>aaT p.N565N COADREAD 22 30734847 30734847 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr22:30734847C>T c.1674G>A c.(1672-1674)ccG>ccA p.P558P COADREAD 22 30734990 30734990 + Missense_Mutation SNP G G A TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr22:30734990G>A c.1531C>T c.(1531-1533)Cgg>Tgg p.R511W COADREAD 22 30735119 30735119 + Splice_Site SNP C C A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr22:30735119C>A c.1497G>T c.(1495-1497)aaG>aaT p.K499N COADREAD 22 30735169 30735169 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr22:30735169C>T c.1447G>A c.(1447-1449)Gcc>Acc p.A483T COADREAD 22 30735182 30735182 + Silent SNP A A G TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr22:30735182A>G c.1434T>C c.(1432-1434)ggT>ggC p.G478G COADREAD 22 30735183 30735183 + Missense_Mutation SNP C C A TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr22:30735183C>A c.1433G>T c.(1432-1434)gGt>gTt p.G478V COADREAD 22 30735184 30735184 + Missense_Mutation SNP C C A TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr22:30735184C>A c.1432G>T c.(1432-1434)Ggt>Tgt p.G478C COADREAD 22 30735202 30735202 + Missense_Mutation SNP G G A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr22:30735202G>A c.1414C>T c.(1414-1416)Cgg>Tgg p.R472W COADREAD 22 30737865 30737865 + Missense_Mutation SNP G G T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr22:30737865G>T c.887C>A c.(886-888)cCt>cAt p.P296H COADREAD 22 30741064 30741064 + Missense_Mutation SNP G G A TCGA-AA-3980-01A-02W-0995-10 TCGA-AA-3980-10A-01W-0999-10 g.chr22:30741064G>A c.509C>T c.(508-510)aCg>aTg p.T170M COADREAD 22 30742327 30742328 + In_Frame_Ins INS - - CTG TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr22:30742327_30742328insCTG c.366_367insCAG c.(364-369)cagacc>cagCAGacc p.122_123insQ COADREAD 22 30742466 30742466 + Silent SNP G G A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr22:30742466G>A c.228C>T c.(226-228)atC>atT p.I76I COADREAD 22 30752746 30752746 + Silent SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr22:30752746C>T c.36G>A c.(34-36)ccG>ccA p.P12P ESCA 22 30730595 30730595 + Silent SNP C C G TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr22:30730595C>G c.2370G>C c.(2368-2370)ggG>ggC p.G790G ESCA 22 30736220 30736220 + Missense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 g.chr22:30736220C>T c.1340G>A c.(1339-1341)cGt>cAt p.R447H ESCA 22 30736779 30736780 + In_Frame_Ins INS - - CTT TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 g.chr22:30736779_30736780insCTT c.1093_1094insAAG c.(1093-1095)ggg>gAAGgg p.364_365insE ESCA 22 30738219 30738219 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 g.chr22:30738219C>T c.847G>A c.(847-849)Gaa>Aaa p.E283K ESCA 22 30741014 30741014 + Nonsense_Mutation SNP G G A TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 g.chr22:30741014G>A c.559C>T c.(559-561)Cag>Tag p.Q187* GBM 22 30738319 30738319 + Nonsense_Mutation SNP C C T TCGA-41-2571-01A-01D-1495-08 TCGA-41-2571-10A-01D-1495-08 g.chr22:30738319C>T c.747G>A c.(745-747)tgG>tgA p.W249* GBM 22 30738811 30738811 + Nonsense_Mutation SNP G G A TCGA-06-0128-01A-01D-1490-08 TCGA-06-0128-10A-01D-1490-08 g.chr22:30738811G>A c.709C>T c.(709-711)Cga>Tga p.R237* GBMLGG 22 30738319 30738319 + Nonsense_Mutation SNP C C T TCGA-41-2571-01A-01D-1495-08 TCGA-41-2571-10A-01D-1495-08 g.chr22:30738319C>T c.747G>A c.(745-747)tgG>tgA p.W249* GBMLGG 22 30738811 30738811 + Nonsense_Mutation SNP G G A TCGA-06-0128-01A-01D-1490-08 TCGA-06-0128-10A-01D-1490-08 g.chr22:30738811G>A c.709C>T c.(709-711)Cga>Tga p.R237* HNSC 22 30730681 30730681 + Missense_Mutation SNP T T C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 g.chr22:30730681T>C c.2284A>G c.(2284-2286)Atc>Gtc p.I762V HNSC 22 30736230 30736230 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr22:30736230G>A c.1330C>T c.(1330-1332)Cgc>Tgc p.R444C HNSC 22 30736775 30736775 + Silent SNP C C T TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 g.chr22:30736775C>T c.1098G>A c.(1096-1098)caG>caA p.Q366Q KIPAN 22 30731504 30731513 + Frame_Shift_Del DEL AATCTTCACC AATCTTCACC - TCGA-5P-A9JZ-01A-11D-A42J-10 TCGA-5P-A9JZ-10A-01D-A42M-10 g.chr22:30731504_30731513delAATCTTCACC c.2223_2232delGGTGAAGATT c.(2221-2232)aaggtgaagattfs p.KVKI741fs KIPAN 22 30736281 30736281 + Missense_Mutation SNP C C G TCGA-B0-5695-01A-11D-1534-10 TCGA-B0-5695-11A-01D-1534-10 g.chr22:30736281C>G c.1279G>C c.(1279-1281)Gaa>Caa p.E427Q KIPAN 22 30737847 30737847 + Missense_Mutation SNP T T A TCGA-BQ-5885-01A-11D-1589-08 TCGA-BQ-5885-11A-01D-1589-08 g.chr22:30737847T>A c.905A>T c.(904-906)gAg>gTg p.E302V KIPAN 22 30740940 30740940 + Silent SNP T T A TCGA-EU-5906-01A-11D-1669-08 TCGA-EU-5906-10A-01D-1669-08 g.chr22:30740940T>A c.633A>T c.(631-633)ctA>ctT p.L211L KIRC 22 30736281 30736281 + Missense_Mutation SNP C C G TCGA-B0-5695-01A-11D-1534-10 TCGA-B0-5695-11A-01D-1534-10 g.chr22:30736281C>G c.1279G>C c.(1279-1281)Gaa>Caa p.E427Q KIRC 22 30740940 30740940 + Silent SNP T T A TCGA-EU-5906-01A-11D-1669-08 TCGA-EU-5906-10A-01D-1669-08 g.chr22:30740940T>A c.633A>T c.(631-633)ctA>ctT p.L211L KIRP 22 30731504 30731513 + Frame_Shift_Del DEL AATCTTCACC AATCTTCACC - TCGA-5P-A9JZ-01A-11D-A42J-10 TCGA-5P-A9JZ-10A-01D-A42M-10 g.chr22:30731504_30731513delAATCTTCACC c.2223_2232delGGTGAAGATT c.(2221-2232)aaggtgaagattfs p.KVKI741fs KIRP 22 30737847 30737847 + Missense_Mutation SNP T T A TCGA-BQ-5885-01A-11D-1589-08 TCGA-BQ-5885-11A-01D-1589-08 g.chr22:30737847T>A c.905A>T c.(904-906)gAg>gTg p.E302V LIHC 22 30731656 30731656 + Silent SNP G G C TCGA-DD-AADD-01A-11D-A40R-10 TCGA-DD-AADD-10A-01D-A40U-10 g.chr22:30731656G>C c.2193C>G c.(2191-2193)ctC>ctG p.L731L LIHC 22 30733037 30733037 + Missense_Mutation SNP T T A TCGA-UB-A7MF-01A-11D-A33K-10 TCGA-UB-A7MF-10A-01D-A33K-10 g.chr22:30733037T>A c.2084A>T c.(2083-2085)gAg>gTg p.E695V LIHC 22 30733103 30733103 + Frame_Shift_Del DEL G G - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr22:30733103delG c.2018delC c.(2017-2019)ccafs p.P675fs LIHC 22 30736780 30736782 + In_Frame_Del DEL CTT CTT - TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr22:30736780_30736782delCTT c.1091_1093delAAG c.(1090-1095)gaaggg>ggg p.E364del LUAD 22 30735012 30735012 + Silent SNP A A G TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr22:30735012A>G c.1509T>C c.(1507-1509)gaT>gaC p.D503D LUAD 22 30735151 30735151 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 g.chr22:30735151C>A c.1465G>T c.(1465-1467)Ggt>Tgt p.G489C LUAD 22 30736319 30736319 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr22:30736319G>T c.1241C>A c.(1240-1242)cCc>cAc p.P414H LUAD 22 30737734 30737734 + Nonsense_Mutation SNP C C A TCGA-97-7546-01A-11D-2036-08 TCGA-97-7546-10A-01D-2036-08 g.chr22:30737734C>A c.1018G>T c.(1018-1020)Gag>Tag p.E340* LUAD 22 30738254 30738254 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chr22:30738254T>C c.812A>G c.(811-813)tAt>tGt p.Y271C LUAD 22 30738815 30738815 + Silent SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 g.chr22:30738815G>A c.705C>T c.(703-705)aaC>aaT p.N235N LUAD 22 30738840 30738840 + Nonsense_Mutation SNP G G C TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr22:30738840G>C c.680C>G c.(679-681)tCa>tGa p.S227* LUAD 22 30740979 30740979 + Silent SNP G G C TCGA-MP-A4TI-01A-21D-A24P-08 TCGA-MP-A4TI-10A-01D-A24P-08 g.chr22:30740979G>C c.594C>G c.(592-594)ctC>ctG p.L198L LUAD 22 30740986 30740986 + Missense_Mutation SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr22:30740986T>C c.587A>G c.(586-588)gAc>gGc p.D196G LUAD 22 30741108 30741108 + Missense_Mutation SNP A A C TCGA-62-A46Y-01A-11D-A24D-08 TCGA-62-A46Y-10A-01D-A24F-08 g.chr22:30741108A>C c.465T>G c.(463-465)gaT>gaG p.D155E LUAD 22 30741134 30741134 + Missense_Mutation SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 g.chr22:30741134G>A c.439C>T c.(439-441)Cct>Tct p.P147S LUAD 22 30741167 30741167 + Missense_Mutation SNP C C A TCGA-MP-A4T4-01A-11D-A25L-08 TCGA-MP-A4T4-10A-01D-A25L-08 g.chr22:30741167C>A c.406G>T c.(406-408)Gta>Tta p.V136L LUAD 22 30742488 30742488 + Missense_Mutation SNP G G C TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 g.chr22:30742488G>C c.206C>G c.(205-207)gCt>gGt p.A69G LUSC 22 30730595 30730595 + Silent SNP C C T TCGA-34-2600-01A-01D-1522-08 TCGA-34-2600-11A-01D-1522-08 g.chr22:30730595C>T c.2370G>A c.(2368-2370)ggG>ggA p.G790G LUSC 22 30735139 30735139 + Missense_Mutation SNP T T A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 g.chr22:30735139T>A c.1477A>T c.(1477-1479)Atc>Ttc p.I493F OV 22 30731718 30731718 + Missense_Mutation SNP C C A TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 g.chr22:30731718C>A c.2131G>T c.(2131-2133)Gtg>Ttg p.V711L OV 22 30735183 30735183 + Missense_Mutation SNP C C A TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 g.chr22:30735183C>A c.1433G>T c.(1432-1434)gGt>gTt p.G478V OV 22 30742390 30742390 + Nonsense_Mutation SNP T T A TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 g.chr22:30742390T>A c.304A>T c.(304-306)Aag>Tag p.K102* PAAD 22 30735152 30735152 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr22:30735152G>A c.1464C>T c.(1462-1464)atC>atT p.I488I PAAD 22 30737858 30737858 + Silent SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr22:30737858G>T c.894C>A c.(892-894)ccC>ccA p.P298P PRAD 22 30735202 30735202 + Missense_Mutation SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 g.chr22:30735202G>A c.1414C>T c.(1414-1416)Cgg>Tgg p.R472W PRAD 22 30736751 30736751 + Silent SNP T T C TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 g.chr22:30736751T>C c.1122A>G c.(1120-1122)acA>acG p.T374T PRAD 22 30737773 30737773 + Missense_Mutation SNP C C A TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 g.chr22:30737773C>A c.979G>T c.(979-981)Gtc>Ttc p.V327F PRAD 22 30752730 30752730 + Frame_Shift_Del DEL C C - TCGA-M7-A724-01A-12D-A32B-08 TCGA-M7-A724-10A-01D-A329-08 g.chr22:30752730delC c.52delG c.(52-54)gagfs p.E18fs READ 22 30735169 30735169 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr22:30735169C>T c.1447G>A c.(1447-1449)Gcc>Acc p.A483T SKCM 22 30733846 30733846 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr22:30733846G>A c.1784C>T c.(1783-1785)cCc>cTc p.P595L SKCM 22 30735145 30735145 + Missense_Mutation SNP C C T TCGA-GN-A262-06A-11D-A196-08 TCGA-GN-A262-10A-01D-A198-08 g.chr22:30735145C>T c.1471G>A c.(1471-1473)Gag>Aag p.E491K SKCM 22 30735185 30735185 + Silent SNP G G A TCGA-DA-A1HW-06A-11D-A19A-08 TCGA-DA-A1HW-10A-01D-A19A-08 g.chr22:30735185G>A c.1431C>T c.(1429-1431)ttC>ttT p.F477F SKCM 22 30741037 30741037 + Missense_Mutation SNP C C T TCGA-ER-A3EV-06A-11D-A20D-08 TCGA-ER-A3EV-10A-01D-A20D-08 g.chr22:30741037C>T c.536G>A c.(535-537)cGc>cAc p.R179H SKCM 22 30741121 30741121 + Missense_Mutation SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr22:30741121T>G c.452A>C c.(451-453)gAg>gCg p.E151A SKCM 22 30741175 30741175 + Missense_Mutation SNP T T G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr22:30741175T>G c.398A>C c.(397-399)cAa>cCa p.Q133P SKCM 22 30742459 30742459 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr22:30742459G>A c.235C>T c.(235-237)Ccc>Tcc p.P79S SKCM 22 30742481 30742481 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr22:30742481G>A c.213C>T c.(211-213)atC>atT p.I71I

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 22 30742366 30742366 single base substitution A G exon_variant BLCA-CN 22 30742366 30742366 single base substitution A G intron_variant BLCA-CN 22 30742366 30742366 single base substitution A G missense_variant S110P 328T>C BLCA-CN 22 30742366 30742366 single base substitution A G splice_region_variant BLCA-CN 22 30742366 30742366 single base substitution A G upstream_gene_variant BLCA-US 22 30730592 30730592 single base substitution C T downstream_gene_variant BLCA-US 22 30730592 30730592 single base substitution C T synonymous_variant R726R 2178G>A BLCA-US 22 30730592 30730592 single base substitution C T synonymous_variant R791R 2373G>A BLCA-US 22 30733035 30733035 single base substitution C A downstream_gene_variant BLCA-US 22 30733035 30733035 single base substitution C A stop_gained E631* 1891G>T BLCA-US 22 30733035 30733035 single base substitution C A stop_gained E696* 2086G>T BLCA-US 22 30735229 30735229 single base substitution C G downstream_gene_variant BLCA-US 22 30735229 30735229 single base substitution C G exon_variant BLCA-US 22 30735229 30735229 single base substitution C G intron_variant BLCA-US 22 30735229 30735229 single base substitution C G missense_variant E398Q 1192G>C BLCA-US 22 30735229 30735229 single base substitution C G missense_variant E463Q 1387G>C BLCA-US 22 30742328 30742330 deletion of <=200bp CTG - exon_variant BLCA-US 22 30742328 30742330 deletion of <=200bp CTG - inframe_deletion Q122 BLCA-US 22 30742328 30742330 deletion of <=200bp CTG - intron_variant BLCA-US 22 30742328 30742330 deletion of <=200bp CTG - upstream_gene_variant BLCA-US 22 30748978 30748978 single base substitution G C exon_variant BLCA-US 22 30748978 30748978 single base substitution G C intron_variant BLCA-US 22 30748978 30748978 single base substitution G C synonymous_variant V49V 147C>G BOCA-FR 22 30740905 30740905 single base substitution C G downstream_gene_variant BOCA-FR 22 30740905 30740905 single base substitution C G exon_variant BOCA-FR 22 30740905 30740905 single base substitution C G intron_variant BOCA-FR 22 30740905 30740905 single base substitution C G upstream_gene_variant BRCA-EU 22 30723697 30723697 single base substitution C T downstream_gene_variant BRCA-EU 22 30725060 30725060 single base substitution G T downstream_gene_variant BRCA-EU 22 30726141 30726141 deletion of <=200bp A - downstream_gene_variant BRCA-EU 22 30729880 30729880 single base substitution C G 3_prime_UTR_variant BRCA-EU 22 30729880 30729880 single base substitution C G downstream_gene_variant BRCA-EU 22 30730066 30730066 single base substitution C T 3_prime_UTR_variant BRCA-EU 22 30730066 30730066 single base substitution C T downstream_gene_variant BRCA-EU 22 30730700 30730700 single base substitution C A downstream_gene_variant BRCA-EU 22 30730700 30730700 single base substitution C A intron_variant BRCA-EU 22 30730945 30730945 single base substitution G C downstream_gene_variant BRCA-EU 22 30730945 30730945 single base substitution G C intron_variant BRCA-EU 22 30731099 30731099 single base substitution G C downstream_gene_variant BRCA-EU 22 30731099 30731099 single base substitution G C intron_variant BRCA-EU 22 30731773 30731773 single base substitution G T downstream_gene_variant BRCA-EU 22 30731773 30731773 single base substitution G T intron_variant BRCA-EU 22 30732573 30732573 single base substitution C T downstream_gene_variant BRCA-EU 22 30732573 30732573 single base substitution C T intron_variant BRCA-EU 22 30736462 30736462 single base substitution C G downstream_gene_variant BRCA-EU 22 30736462 30736462 single base substitution C G exon_variant BRCA-EU 22 30736462 30736462 single base substitution C G intron_variant BRCA-EU 22 30736462 30736462 single base substitution C G upstream_gene_variant BRCA-EU 22 30737079 30737079 insertion of <=200bp - G downstream_gene_variant BRCA-EU 22 30737079 30737079 insertion of <=200bp - G intron_variant BRCA-EU 22 30737079 30737079 insertion of <=200bp - G upstream_gene_variant BRCA-EU 22 30737579 30737579 single base substitution T A downstream_gene_variant BRCA-EU 22 30737579 30737579 single base substitution T A intron_variant BRCA-EU 22 30737579 30737579 single base substitution T A upstream_gene_variant BRCA-EU 22 30737815 30737815 single base substitution G A downstream_gene_variant BRCA-EU 22 30737815 30737815 single base substitution G A intron_variant BRCA-EU 22 30737815 30737815 single base substitution G A missense_variant R248C 742C>T BRCA-EU 22 30737815 30737815 single base substitution G A missense_variant R313C 937C>T BRCA-EU 22 30737815 30737815 single base substitution G A missense_variant R9C 25C>T BRCA-EU 22 30737815 30737815 single base substitution G A upstream_gene_variant BRCA-EU 22 30737910 30737910 single base substitution C G downstream_gene_variant BRCA-EU 22 30737910 30737910 single base substitution C G intron_variant BRCA-EU 22 30737910 30737910 single base substitution C G upstream_gene_variant BRCA-EU 22 30739935 30739935 single base substitution G A downstream_gene_variant BRCA-EU 22 30739935 30739935 single base substitution G A intron_variant BRCA-EU 22 30739935 30739935 single base substitution G A upstream_gene_variant BRCA-EU 22 30740037 30740064 deletion of <=200bp TTTGCAATAAATTAATAATCTGATTATT - downstream_gene_variant BRCA-EU 22 30740037 30740064 deletion of <=200bp TTTGCAATAAATTAATAATCTGATTATT - intron_variant BRCA-EU 22 30740037 30740064 deletion of <=200bp TTTGCAATAAATTAATAATCTGATTATT - upstream_gene_variant BRCA-EU 22 30740314 30740314 single base substitution G C downstream_gene_variant BRCA-EU 22 30740314 30740314 single base substitution G C intron_variant BRCA-EU 22 30740314 30740314 single base substitution G C upstream_gene_variant BRCA-EU 22 30740353 30740353 single base substitution C T downstream_gene_variant BRCA-EU 22 30740353 30740353 single base substitution C T intron_variant BRCA-EU 22 30740353 30740353 single base substitution C T upstream_gene_variant BRCA-EU 22 30740716 30740716 single base substitution C T downstream_gene_variant BRCA-EU 22 30740716 30740716 single base substitution C T intron_variant BRCA-EU 22 30740716 30740716 single base substitution C T upstream_gene_variant BRCA-EU 22 30741969 30741969 single base substitution C A downstream_gene_variant BRCA-EU 22 30741969 30741969 single base substitution C A intron_variant BRCA-EU 22 30741969 30741969 single base substitution C A upstream_gene_variant BRCA-EU 22 30742813 30742813 deletion of <=200bp A - intron_variant BRCA-EU 22 30742813 30742813 deletion of <=200bp A - upstream_gene_variant BRCA-EU 22 30743079 30743079 single base substitution G C intron_variant BRCA-EU 22 30743079 30743079 single base substitution G C upstream_gene_variant BRCA-EU 22 30743202 30743202 single base substitution C G intron_variant BRCA-EU 22 30743202 30743202 single base substitution C G upstream_gene_variant BRCA-EU 22 30743686 30743686 single base substitution G A downstream_gene_variant BRCA-EU 22 30743686 30743686 single base substitution G A intron_variant BRCA-EU 22 30743686 30743686 single base substitution G A upstream_gene_variant BRCA-EU 22 30749455 30749455 single base substitution T C intron_variant BRCA-EU 22 30750392 30750392 single base substitution C G intron_variant BRCA-EU 22 30751896 30751896 single base substitution C G intron_variant BRCA-EU 22 30754195 30754195 single base substitution C T upstream_gene_variant BRCA-EU 22 30756035 30756035 single base substitution G C upstream_gene_variant BRCA-EU 22 30756158 30756158 single base substitution T A upstream_gene_variant BRCA-EU 22 30756721 30756721 single base substitution T C upstream_gene_variant BRCA-FR 22 30725060 30725060 single base substitution G T downstream_gene_variant BRCA-FR 22 30729880 30729880 single base substitution C G 3_prime_UTR_variant BRCA-FR 22 30729880 30729880 single base substitution C G downstream_gene_variant BRCA-FR 22 30730945 30730945 single base substitution G C downstream_gene_variant BRCA-FR 22 30730945 30730945 single base substitution G C intron_variant BRCA-FR 22 30739284 30739284 single base substitution C A downstream_gene_variant BRCA-FR 22 30739284 30739284 single base substitution C A intron_variant BRCA-FR 22 30739284 30739284 single base substitution C A upstream_gene_variant BRCA-FR 22 30741969 30741969 single base substitution C A downstream_gene_variant BRCA-FR 22 30741969 30741969 single base substitution C A intron_variant BRCA-FR 22 30741969 30741969 single base substitution C A upstream_gene_variant BRCA-FR 22 30749131 30749131 single base substitution C A intron_variant BRCA-FR 22 30749497 30749497 single base substitution A C intron_variant BRCA-FR 22 30755160 30755160 single base substitution C T upstream_gene_variant BRCA-FR 22 30756035 30756035 single base substitution G C upstream_gene_variant BRCA-UK 22 30740037 30740064 deletion of <=200bp TTTGCAATAAATTAATAATCTGATTATT - downstream_gene_variant BRCA-UK 22 30740037 30740064 deletion of <=200bp TTTGCAATAAATTAATAATCTGATTATT - intron_variant BRCA-UK 22 30740037 30740064 deletion of <=200bp TTTGCAATAAATTAATAATCTGATTATT - upstream_gene_variant BRCA-US 22 30733776 30733776 single base substitution C T downstream_gene_variant BRCA-US 22 30733776 30733776 single base substitution C T synonymous_variant P553P 1659G>A BRCA-US 22 30733776 30733776 single base substitution C T synonymous_variant P618P 1854G>A BRCA-US 22 30733834 30733834 single base substitution C T 3_prime_UTR_variant BRCA-US 22 30733834 30733834 single base substitution C T downstream_gene_variant BRCA-US 22 30733834 30733834 single base substitution C T missense_variant R250Q 749G>A BRCA-US 22 30733834 30733834 single base substitution C T missense_variant R534Q 1601G>A BRCA-US 22 30733834 30733834 single base substitution C T missense_variant R599Q 1796G>A BRCA-US 22 30736331 30736331 single base substitution T C downstream_gene_variant BRCA-US 22 30736331 30736331 single base substitution T C exon_variant BRCA-US 22 30736331 30736331 single base substitution T C intron_variant BRCA-US 22 30736331 30736331 single base substitution T C missense_variant Y106C 317A>G BRCA-US 22 30736331 30736331 single base substitution T C missense_variant Y345C 1034A>G BRCA-US 22 30736331 30736331 single base substitution T C missense_variant Y410C 1229A>G CESC-US 22 30736706 30736706 single base substitution G C downstream_gene_variant CESC-US 22 30736706 30736706 single base substitution G C exon_variant CESC-US 22 30736706 30736706 single base substitution G C intron_variant CESC-US 22 30736706 30736706 single base substitution G C synonymous_variant V324V 972C>G CESC-US 22 30736706 30736706 single base substitution G C synonymous_variant V389V 1167C>G CESC-US 22 30736706 30736706 single base substitution G C synonymous_variant V85V 255C>G CESC-US 22 30736706 30736706 single base substitution G C upstream_gene_variant CLLE-ES 22 30728711 30728711 single base substitution C G 3_prime_UTR_variant COAD-US 22 30733726 30733726 single base substitution G A downstream_gene_variant COAD-US 22 30733726 30733726 single base substitution G A missense_variant A570V 1709C>T COAD-US 22 30733726 30733726 single base substitution G A missense_variant A635V 1904C>T COAD-US 22 30734847 30734847 single base substitution C T 3_prime_UTR_variant COAD-US 22 30734847 30734847 single base substitution C T downstream_gene_variant COAD-US 22 30734847 30734847 single base substitution C T exon_variant COAD-US 22 30734847 30734847 single base substitution C T synonymous_variant P209P 627G>A COAD-US 22 30734847 30734847 single base substitution C T synonymous_variant P493P 1479G>A COAD-US 22 30734847 30734847 single base substitution C T synonymous_variant P558P 1674G>A COAD-US 22 30735202 30735202 single base substitution G A downstream_gene_variant COAD-US 22 30735202 30735202 single base substitution G A exon_variant COAD-US 22 30735202 30735202 single base substitution G A intron_variant COAD-US 22 30735202 30735202 single base substitution G A missense_variant R407W 1219C>T COAD-US 22 30735202 30735202 single base substitution G A missense_variant R472W 1414C>T COAD-US 22 30737865 30737865 single base substitution G T downstream_gene_variant COAD-US 22 30737865 30737865 single base substitution G T intron_variant COAD-US 22 30737865 30737865 single base substitution G T missense_variant P231H 692C>A COAD-US 22 30737865 30737865 single base substitution G T missense_variant P296H 887C>A COAD-US 22 30737865 30737865 single base substitution G T upstream_gene_variant COAD-US 22 30742327 30742327 insertion of <=200bp - CTG exon_variant COAD-US 22 30742327 30742327 insertion of <=200bp - CTG inframe_insertion T123TA COAD-US 22 30742327 30742327 insertion of <=200bp - CTG intron_variant COAD-US 22 30742327 30742327 insertion of <=200bp - CTG upstream_gene_variant COCA-CN 22 30735093 30735093 single base substitution G A downstream_gene_variant COCA-CN 22 30735093 30735093 single base substitution G A exon_variant COCA-CN 22 30735093 30735093 single base substitution G A intron_variant COCA-CN 22 30736366 30736366 single base substitution G T downstream_gene_variant COCA-CN 22 30736366 30736366 single base substitution G T exon_variant COCA-CN 22 30736366 30736366 single base substitution G T intron_variant COCA-CN 22 30736366 30736366 single base substitution G T synonymous_variant S333S 999C>A COCA-CN 22 30736366 30736366 single base substitution G T synonymous_variant S398S 1194C>A COCA-CN 22 30736366 30736366 single base substitution G T synonymous_variant S94S 282C>A COCA-CN 22 30742472 30742472 single base substitution G A exon_variant COCA-CN 22 30742472 30742472 single base substitution G A intron_variant COCA-CN 22 30742472 30742472 single base substitution G A synonymous_variant N74N 222C>T COCA-CN 22 30742472 30742472 single base substitution G A upstream_gene_variant COCA-CN 22 30749079 30749079 single base substitution G T intron_variant EOPC-DE 22 30733764 30733764 single base substitution G A downstream_gene_variant EOPC-DE 22 30733764 30733764 single base substitution G A synonymous_variant H557H 1671C>T EOPC-DE 22 30733764 30733764 single base substitution G A synonymous_variant H622H 1866C>T EOPC-DE 22 30748127 30748127 single base substitution A G downstream_gene_variant EOPC-DE 22 30748127 30748127 single base substitution A G intron_variant ESAD-UK 22 30723052 30723052 deletion of <=200bp C - downstream_gene_variant ESAD-UK 22 30729741 30729741 single base substitution A C 3_prime_UTR_variant ESAD-UK 22 30729741 30729741 single base substitution A C downstream_gene_variant ESAD-UK 22 30730241 30730241 single base substitution T C 3_prime_UTR_variant ESAD-UK 22 30730241 30730241 single base substitution T C downstream_gene_variant ESAD-UK 22 30730773 30730773 single base substitution C T downstream_gene_variant ESAD-UK 22 30730773 30730773 single base substitution C T intron_variant ESAD-UK 22 30735766 30735766 single base substitution A T downstream_gene_variant ESAD-UK 22 30735766 30735766 single base substitution A T intron_variant ESAD-UK 22 30744421 30744421 single base substitution C A downstream_gene_variant ESAD-UK 22 30744421 30744421 single base substitution C A intron_variant ESAD-UK 22 30744421 30744421 single base substitution C A upstream_gene_variant ESAD-UK 22 30744422 30744422 single base substitution A G downstream_gene_variant ESAD-UK 22 30744422 30744422 single base substitution A G intron_variant ESAD-UK 22 30744422 30744422 single base substitution A G upstream_gene_variant ESAD-UK 22 30746664 30746664 deletion of <=200bp A - downstream_gene_variant ESAD-UK 22 30746664 30746664 deletion of <=200bp A - intron_variant ESAD-UK 22 30746664 30746664 deletion of <=200bp A - upstream_gene_variant ESAD-UK 22 30747996 30747996 single base substitution G A downstream_gene_variant ESAD-UK 22 30747996 30747996 single base substitution G A intron_variant GBM-US 22 30736312 30736312 single base substitution A C downstream_gene_variant GBM-US 22 30736312 30736312 single base substitution A C exon_variant GBM-US 22 30736312 30736312 single base substitution A C intron_variant GBM-US 22 30736312 30736312 single base substitution A C synonymous_variant T112T 336T>G GBM-US 22 30736312 30736312 single base substitution A C synonymous_variant T351T 1053T>G GBM-US 22 30736312 30736312 single base substitution A C synonymous_variant T416T 1248T>G GBM-US 22 30738319 30738319 single base substitution C T 3_prime_UTR_variant GBM-US 22 30738319 30738319 single base substitution C T downstream_gene_variant GBM-US 22 30738319 30738319 single base substitution C T intron_variant GBM-US 22 30738319 30738319 single base substitution C T stop_gained W184* 552G>A GBM-US 22 30738319 30738319 single base substitution C T stop_gained W249* 747G>A GBM-US 22 30738319 30738319 single base substitution C T upstream_gene_variant GBM-US 22 30738811 30738811 single base substitution G A 3_prime_UTR_variant GBM-US 22 30738811 30738811 single base substitution G A downstream_gene_variant GBM-US 22 30738811 30738811 single base substitution G A exon_variant GBM-US 22 30738811 30738811 single base substitution G A intron_variant GBM-US 22 30738811 30738811 single base substitution G A stop_gained R172* 514C>T GBM-US 22 30738811 30738811 single base substitution G A stop_gained R237* 709C>T GBM-US 22 30738811 30738811 single base substitution G A upstream_gene_variant KIRC-US 22 30736281 30736281 single base substitution C G downstream_gene_variant KIRC-US 22 30736281 30736281 single base substitution C G exon_variant KIRC-US 22 30736281 30736281 single base substitution C G intron_variant KIRC-US 22 30736281 30736281 single base substitution C G missense_variant E123Q 367G>C KIRC-US 22 30736281 30736281 single base substitution C G missense_variant E362Q 1084G>C KIRC-US 22 30736281 30736281 single base substitution C G missense_variant E427Q 1279G>C KIRC-US 22 30740940 30740940 single base substitution T A downstream_gene_variant KIRC-US 22 30740940 30740940 single base substitution T A exon_variant KIRC-US 22 30740940 30740940 single base substitution T A intron_variant KIRC-US 22 30740940 30740940 single base substitution T A synonymous_variant L146L 438A>T KIRC-US 22 30740940 30740940 single base substitution T A synonymous_variant L211L 633A>T KIRC-US 22 30740940 30740940 single base substitution T A upstream_gene_variant KIRP-US 22 30737847 30737847 single base substitution T A downstream_gene_variant KIRP-US 22 30737847 30737847 single base substitution T A intron_variant KIRP-US 22 30737847 30737847 single base substitution T A missense_variant E237V 710A>T KIRP-US 22 30737847 30737847 single base substitution T A missense_variant E302V 905A>T KIRP-US 22 30737847 30737847 single base substitution T A upstream_gene_variant LAML-KR 22 30748083 30748083 single base substitution T G downstream_gene_variant LAML-KR 22 30748083 30748083 single base substitution T G intron_variant LAML-KR 22 30749405 30749405 single base substitution G T intron_variant LICA-FR 22 30737836 30737836 single base substitution C T downstream_gene_variant LICA-FR 22 30737836 30737836 single base substitution C T intron_variant LICA-FR 22 30737836 30737836 single base substitution C T missense_variant A241T 721G>A LICA-FR 22 30737836 30737836 single base substitution C T missense_variant A2T 4G>A LICA-FR 22 30737836 30737836 single base substitution C T missense_variant A306T 916G>A LICA-FR 22 30737836 30737836 single base substitution C T upstream_gene_variant LICA-FR 22 30742398 30742398 single base substitution C T exon_variant LICA-FR 22 30742398 30742398 single base substitution C T intron_variant LICA-FR 22 30742398 30742398 single base substitution C T missense_variant S99N 296G>A LICA-FR 22 30742398 30742398 single base substitution C T upstream_gene_variant LICA-FR 22 30749018 30749018 single base substitution G A exon_variant LICA-FR 22 30749018 30749018 single base substitution G A intron_variant LICA-FR 22 30749018 30749018 single base substitution G A missense_variant S36F 107C>T LIHC-US 22 30733037 30733037 single base substitution T A downstream_gene_variant LIHC-US 22 30733037 30733037 single base substitution T A missense_variant E630V 1889A>T LIHC-US 22 30733037 30733037 single base substitution T A missense_variant E695V 2084A>T LIHC-US 22 30742471 30742471 single base substitution C T exon_variant LIHC-US 22 30742471 30742471 single base substitution C T intron_variant LIHC-US 22 30742471 30742471 single base substitution C T missense_variant E75K 223G>A LIHC-US 22 30742471 30742471 single base substitution C T upstream_gene_variant LINC-JP 22 30723035 30723035 single base substitution C T downstream_gene_variant LINC-JP 22 30728763 30728763 single base substitution T C 3_prime_UTR_variant LINC-JP 22 30735156 30735156 single base substitution T C downstream_gene_variant LINC-JP 22 30735156 30735156 single base substitution T C exon_variant LINC-JP 22 30735156 30735156 single base substitution T C intron_variant LINC-JP 22 30735156 30735156 single base substitution T C missense_variant K422R 1265A>G LINC-JP 22 30735156 30735156 single base substitution T C missense_variant K487R 1460A>G LINC-JP 22 30736468 30736468 single base substitution T C downstream_gene_variant LINC-JP 22 30736468 30736468 single base substitution T C exon_variant LINC-JP 22 30736468 30736468 single base substitution T C intron_variant LINC-JP 22 30736468 30736468 single base substitution T C upstream_gene_variant LINC-JP 22 30737315 30737315 single base substitution C T downstream_gene_variant LINC-JP 22 30737315 30737315 single base substitution C T intron_variant LINC-JP 22 30737315 30737315 single base substitution C T upstream_gene_variant LINC-JP 22 30738814 30738814 single base substitution G T 3_prime_UTR_variant LINC-JP 22 30738814 30738814 single base substitution G T downstream_gene_variant LINC-JP 22 30738814 30738814 single base substitution G T exon_variant LINC-JP 22 30738814 30738814 single base substitution G T intron_variant LINC-JP 22 30738814 30738814 single base substitution G T missense_variant P171T 511C>A LINC-JP 22 30738814 30738814 single base substitution G T missense_variant P236T 706C>A LINC-JP 22 30738814 30738814 single base substitution G T upstream_gene_variant LINC-JP 22 30746609 30746621 deletion of <=200bp TGGAAAAATGCTT - downstream_gene_variant LINC-JP 22 30746609 30746621 deletion of <=200bp TGGAAAAATGCTT - intron_variant LINC-JP 22 30746609 30746621 deletion of <=200bp TGGAAAAATGCTT - upstream_gene_variant LINC-JP 22 30751815 30751815 single base substitution G C intron_variant LIRI-JP 22 30724871 30724871 single base substitution T C downstream_gene_variant LIRI-JP 22 30725690 30725690 single base substitution A G downstream_gene_variant LIRI-JP 22 30729776 30729776 single base substitution T A 3_prime_UTR_variant LIRI-JP 22 30729776 30729776 single base substitution T A downstream_gene_variant LIRI-JP 22 30730241 30730241 single base substitution T C 3_prime_UTR_variant LIRI-JP 22 30730241 30730241 single base substitution T C downstream_gene_variant LIRI-JP 22 30730347 30730347 single base substitution A G 3_prime_UTR_variant LIRI-JP 22 30730347 30730347 single base substitution A G downstream_gene_variant LIRI-JP 22 30734664 30734664 single base substitution G C downstream_gene_variant LIRI-JP 22 30734664 30734664 single base substitution G C intron_variant LIRI-JP 22 30735054 30735054 single base substitution T G downstream_gene_variant LIRI-JP 22 30735054 30735054 single base substitution T G exon_variant LIRI-JP 22 30735054 30735054 single base substitution T G intron_variant LIRI-JP 22 30735312 30735312 single base substitution T A downstream_gene_variant LIRI-JP 22 30735312 30735312 single base substitution T A intron_variant LIRI-JP 22 30738012 30738012 single base substitution C T downstream_gene_variant LIRI-JP 22 30738012 30738012 single base substitution C T intron_variant LIRI-JP 22 30738012 30738012 single base substitution C T upstream_gene_variant LIRI-JP 22 30738396 30738396 single base substitution G C downstream_gene_variant LIRI-JP 22 30738396 30738396 single base substitution G C intron_variant LIRI-JP 22 30738396 30738396 single base substitution G C upstream_gene_variant LIRI-JP 22 30738657 30738657 single base substitution C A downstream_gene_variant LIRI-JP 22 30738657 30738657 single base substitution C A exon_variant LIRI-JP 22 30738657 30738657 single base substitution C A intron_variant LIRI-JP 22 30738657 30738657 single base substitution C A upstream_gene_variant LIRI-JP 22 30738741 30738741 single base substitution T C downstream_gene_variant LIRI-JP 22 30738741 30738741 single base substitution T C exon_variant LIRI-JP 22 30738741 30738741 single base substitution T C intron_variant LIRI-JP 22 30738741 30738741 single base substitution T C upstream_gene_variant LIRI-JP 22 30738899 30738899 insertion of <=200bp - A downstream_gene_variant LIRI-JP 22 30738899 30738899 insertion of <=200bp - A intron_variant LIRI-JP 22 30738899 30738899 insertion of <=200bp - A upstream_gene_variant LIRI-JP 22 30739061 30739061 single base substitution A T downstream_gene_variant LIRI-JP 22 30739061 30739061 single base substitution A T intron_variant LIRI-JP 22 30739061 30739061 single base substitution A T upstream_gene_variant LIRI-JP 22 30739728 30739728 single base substitution T C downstream_gene_variant LIRI-JP 22 30739728 30739728 single base substitution T C intron_variant LIRI-JP 22 30739728 30739728 single base substitution T C upstream_gene_variant LIRI-JP 22 30740660 30740660 single base substitution T A downstream_gene_variant LIRI-JP 22 30740660 30740660 single base substitution T A intron_variant LIRI-JP 22 30740660 30740660 single base substitution T A upstream_gene_variant LIRI-JP 22 30743747 30743747 single base substitution T C downstream_gene_variant LIRI-JP 22 30743747 30743747 single base substitution T C intron_variant LIRI-JP 22 30743747 30743747 single base substitution T C upstream_gene_variant LIRI-JP 22 30744354 30744354 single base substitution C T downstream_gene_variant LIRI-JP 22 30744354 30744354 single base substitution C T intron_variant LIRI-JP 22 30744354 30744354 single base substitution C T upstream_gene_variant LIRI-JP 22 30745982 30745982 single base substitution G A downstream_gene_variant LIRI-JP 22 30745982 30745982 single base substitution G A intron_variant LIRI-JP 22 30745982 30745982 single base substitution G A upstream_gene_variant LIRI-JP 22 30750111 30750111 single base substitution T C intron_variant LIRI-JP 22 30750500 30750500 single base substitution C A intron_variant LIRI-JP 22 30755184 30755184 single base substitution C T upstream_gene_variant LIRI-JP 22 30755334 30755334 single base substitution G T upstream_gene_variant LUSC-KR 22 30723102 30723102 single base substitution C A downstream_gene_variant LUSC-KR 22 30727887 30727887 single base substitution C A downstream_gene_variant LUSC-KR 22 30729507 30729507 single base substitution G A 3_prime_UTR_variant LUSC-KR 22 30729507 30729507 single base substitution G A downstream_gene_variant LUSC-KR 22 30731183 30731183 single base substitution C T downstream_gene_variant LUSC-KR 22 30731183 30731183 single base substitution C T intron_variant LUSC-KR 22 30735177 30735177 single base substitution T A downstream_gene_variant LUSC-KR 22 30735177 30735177 single base substitution T A exon_variant LUSC-KR 22 30735177 30735177 single base substitution T A intron_variant LUSC-KR 22 30735177 30735177 single base substitution T A missense_variant E415V 1244A>T LUSC-KR 22 30735177 30735177 single base substitution T A missense_variant E480V 1439A>T LUSC-KR 22 30736911 30736911 single base substitution G A downstream_gene_variant LUSC-KR 22 30736911 30736911 single base substitution G A intron_variant LUSC-KR 22 30736911 30736911 single base substitution G A upstream_gene_variant LUSC-KR 22 30740264 30740264 single base substitution T A downstream_gene_variant LUSC-KR 22 30740264 30740264 single base substitution T A intron_variant LUSC-KR 22 30740264 30740264 single base substitution T A upstream_gene_variant LUSC-KR 22 30749472 30749472 single base substitution T C intron_variant LUSC-KR 22 30751199 30751199 single base substitution T A intron_variant LUSC-KR 22 30752549 30752549 single base substitution G T intron_variant LUSC-KR 22 30752581 30752581 single base substitution T C intron_variant LUSC-KR 22 30755944 30755944 single base substitution G A upstream_gene_variant LUSC-US 22 30730595 30730595 single base substitution C T downstream_gene_variant LUSC-US 22 30730595 30730595 single base substitution C T synonymous_variant G725G 2175G>A LUSC-US 22 30730595 30730595 single base substitution C T synonymous_variant G790G 2370G>A LUSC-US 22 30735139 30735139 single base substitution T A downstream_gene_variant LUSC-US 22 30735139 30735139 single base substitution T A exon_variant LUSC-US 22 30735139 30735139 single base substitution T A intron_variant LUSC-US 22 30735139 30735139 single base substitution T A missense_variant I428F 1282A>T LUSC-US 22 30735139 30735139 single base substitution T A missense_variant I493F 1477A>T MALY-DE 22 30725125 30725125 single base substitution T C downstream_gene_variant MALY-DE 22 30745395 30745395 single base substitution A G downstream_gene_variant MALY-DE 22 30745395 30745395 single base substitution A G intron_variant MALY-DE 22 30745395 30745395 single base substitution A G upstream_gene_variant MALY-DE 22 30745687 30745687 single base substitution C T downstream_gene_variant MALY-DE 22 30745687 30745687 single base substitution C T intron_variant MALY-DE 22 30745687 30745687 single base substitution C T upstream_gene_variant MALY-DE 22 30749962 30749962 single base substitution A G intron_variant MELA-AU 22 30723053 30723053 single base substitution C T downstream_gene_variant MELA-AU 22 30723115 30723115 single base substitution C T downstream_gene_variant MELA-AU 22 30723296 30723296 single base substitution G A downstream_gene_variant MELA-AU 22 30723655 30723655 single base substitution G A downstream_gene_variant MELA-AU 22 30723968 30723968 single base substitution C T downstream_gene_variant MELA-AU 22 30724800 30724800 single base substitution C T downstream_gene_variant MELA-AU 22 30725178 30725178 single base substitution G A downstream_gene_variant MELA-AU 22 30725424 30725424 single base substitution G A downstream_gene_variant MELA-AU 22 30725489 30725489 single base substitution G A downstream_gene_variant MELA-AU 22 30725904 30725904 single base substitution A G downstream_gene_variant MELA-AU 22 30726554 30726554 single base substitution G A downstream_gene_variant MELA-AU 22 30727225 30727226 multiple base substitution (>=2bp and <=200bp) GG AC downstream_gene_variant MELA-AU 22 30728188 30728188 single base substitution T C 3_prime_UTR_variant MELA-AU 22 30728244 30728244 single base substitution C G 3_prime_UTR_variant MELA-AU 22 30729069 30729069 single base substitution C T 3_prime_UTR_variant MELA-AU 22 30729069 30729069 single base substitution C T downstream_gene_variant MELA-AU 22 30730235 30730235 single base substitution C G 3_prime_UTR_variant MELA-AU 22 30730235 30730235 single base substitution C G downstream_gene_variant MELA-AU 22 30730619 30730619 single base substitution G A downstream_gene_variant MELA-AU 22 30730619 30730619 single base substitution G A synonymous_variant H717H 2151C>T MELA-AU 22 30730619 30730619 single base substitution G A synonymous_variant H782H 2346C>T MELA-AU 22 30732644 30732644 single base substitution G A downstream_gene_variant MELA-AU 22 30732644 30732644 single base substitution G A intron_variant MELA-AU 22 30732657 30732657 single base substitution A T downstream_gene_variant MELA-AU 22 30732657 30732657 single base substitution A T intron_variant MELA-AU 22 30733009 30733009 single base substitution A G downstream_gene_variant MELA-AU 22 30733009 30733009 single base substitution A G splice_region_variant MELA-AU 22 30733341 30733341 single base substitution G A downstream_gene_variant MELA-AU 22 30733341 30733341 single base substitution G A intron_variant MELA-AU 22 30733555 30733555 insertion of <=200bp - CT downstream_gene_variant MELA-AU 22 30733555 30733555 insertion of <=200bp - CT intron_variant MELA-AU 22 30733788 30733788 single base substitution G A downstream_gene_variant MELA-AU 22 30733788 30733788 single base substitution G A synonymous_variant I549I 1647C>T MELA-AU 22 30733788 30733788 single base substitution G A synonymous_variant I614I 1842C>T MELA-AU 22 30733790 30733790 single base substitution T A 3_prime_UTR_variant MELA-AU 22 30733790 30733790 single base substitution T A downstream_gene_variant MELA-AU 22 30733790 30733790 single base substitution T A missense_variant I549F 1645A>T MELA-AU 22 30733790 30733790 single base substitution T A missense_variant I614F 1840A>T MELA-AU 22 30733803 30733803 single base substitution G A 3_prime_UTR_variant MELA-AU 22 30733803 30733803 single base substitution G A downstream_gene_variant MELA-AU 22 30733803 30733803 single base substitution G A synonymous_variant P544P 1632C>T MELA-AU 22 30733803 30733803 single base substitution G A synonymous_variant P609P 1827C>T MELA-AU 22 30733846 30733846 single base substitution G A 3_prime_UTR_variant MELA-AU 22 30733846 30733846 single base substitution G A downstream_gene_variant MELA-AU 22 30733846 30733846 single base substitution G A missense_variant P246L 737C>T MELA-AU 22 30733846 30733846 single base substitution G A missense_variant P530L 1589C>T MELA-AU 22 30733846 30733846 single base substitution G A missense_variant P595L 1784C>T MELA-AU 22 30734044 30734044 single base substitution C T downstream_gene_variant MELA-AU 22 30734044 30734044 single base substitution C T intron_variant MELA-AU 22 30734809 30734809 single base substitution G A 3_prime_UTR_variant MELA-AU 22 30734809 30734809 single base substitution G A downstream_gene_variant MELA-AU 22 30734809 30734809 single base substitution G A missense_variant P222L 665C>T MELA-AU 22 30734809 30734809 single base substitution G A missense_variant P506L 1517C>T MELA-AU 22 30734809 30734809 single base substitution G A missense_variant P571L 1712C>T MELA-AU 22 30736012 30736012 single base substitution G A downstream_gene_variant MELA-AU 22 30736012 30736012 single base substitution G A intron_variant MELA-AU 22 30736045 30736045 single base substitution G A downstream_gene_variant MELA-AU 22 30736045 30736045 single base substitution G A intron_variant MELA-AU 22 30736170 30736170 single base substitution G A downstream_gene_variant MELA-AU 22 30736170 30736170 single base substitution G A intron_variant MELA-AU 22 30736761 30736761 single base substitution G A downstream_gene_variant MELA-AU 22 30736761 30736761 single base substitution G A exon_variant MELA-AU 22 30736761 30736761 single base substitution G A intron_variant MELA-AU 22 30736761 30736761 single base substitution G A missense_variant P306L 917C>T MELA-AU 22 30736761 30736761 single base substitution G A missense_variant P371L 1112C>T MELA-AU 22 30736761 30736761 single base substitution G A missense_variant P67L 200C>T MELA-AU 22 30736761 30736761 single base substitution G A upstream_gene_variant MELA-AU 22 30739378 30739378 single base substitution G A downstream_gene_variant MELA-AU 22 30739378 30739378 single base substitution G A intron_variant MELA-AU 22 30739378 30739378 single base substitution G A upstream_gene_variant MELA-AU 22 30740520 30740521 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 30740520 30740521 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 30740520 30740521 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 22 30741170 30741170 single base substitution G A downstream_gene_variant MELA-AU 22 30741170 30741170 single base substitution G A exon_variant MELA-AU 22 30741170 30741170 single base substitution G A intron_variant MELA-AU 22 30741170 30741170 single base substitution G A stop_gained Q135* 403C>T MELA-AU 22 30741170 30741170 single base substitution G A upstream_gene_variant MELA-AU 22 30741853 30741853 single base substitution G A downstream_gene_variant MELA-AU 22 30741853 30741853 single base substitution G A intron_variant MELA-AU 22 30741853 30741853 single base substitution G A upstream_gene_variant MELA-AU 22 30744797 30744797 single base substitution G A downstream_gene_variant MELA-AU 22 30744797 30744797 single base substitution G A intron_variant MELA-AU 22 30744797 30744797 single base substitution G A upstream_gene_variant MELA-AU 22 30745373 30745373 single base substitution G A downstream_gene_variant MELA-AU 22 30745373 30745373 single base substitution G A intron_variant MELA-AU 22 30745373 30745373 single base substitution G A upstream_gene_variant MELA-AU 22 30745625 30745625 single base substitution G A downstream_gene_variant MELA-AU 22 30745625 30745625 single base substitution G A intron_variant MELA-AU 22 30745625 30745625 single base substitution G A upstream_gene_variant MELA-AU 22 30746107 30746107 single base substitution G A downstream_gene_variant MELA-AU 22 30746107 30746107 single base substitution G A intron_variant MELA-AU 22 30746107 30746107 single base substitution G A upstream_gene_variant MELA-AU 22 30746386 30746386 single base substitution A G downstream_gene_variant MELA-AU 22 30746386 30746386 single base substitution A G intron_variant MELA-AU 22 30746386 30746386 single base substitution A G upstream_gene_variant MELA-AU 22 30747522 30747522 single base substitution G T downstream_gene_variant MELA-AU 22 30747522 30747522 single base substitution G T intron_variant MELA-AU 22 30747712 30747712 single base substitution C T downstream_gene_variant MELA-AU 22 30747712 30747712 single base substitution C T intron_variant MELA-AU 22 30748446 30748446 single base substitution A G downstream_gene_variant MELA-AU 22 30748446 30748446 single base substitution A G intron_variant MELA-AU 22 30748817 30748817 single base substitution T C exon_variant MELA-AU 22 30748817 30748817 single base substitution T C intron_variant MELA-AU 22 30749283 30749283 single base substitution C T intron_variant MELA-AU 22 30749723 30749723 single base substitution T C intron_variant MELA-AU 22 30750502 30750502 single base substitution C T intron_variant MELA-AU 22 30751058 30751058 single base substitution G A intron_variant MELA-AU 22 30752452 30752452 single base substitution T C intron_variant MELA-AU 22 30752929 30752929 single base substitution C T 5_prime_UTR_variant MELA-AU 22 30752929 30752929 single base substitution C T upstream_gene_variant MELA-AU 22 30752929 30752930 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 22 30752929 30752930 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 22 30752959 30752959 single base substitution C T upstream_gene_variant MELA-AU 22 30753725 30753725 single base substitution G A upstream_gene_variant MELA-AU 22 30753850 30753850 single base substitution C T upstream_gene_variant MELA-AU 22 30754143 30754143 single base substitution C T upstream_gene_variant MELA-AU 22 30754175 30754175 single base substitution G A upstream_gene_variant MELA-AU 22 30754288 30754288 single base substitution G C upstream_gene_variant MELA-AU 22 30754361 30754361 single base substitution G A upstream_gene_variant MELA-AU 22 30754408 30754408 single base substitution T A upstream_gene_variant MELA-AU 22 30754753 30754753 single base substitution G A upstream_gene_variant MELA-AU 22 30755712 30755712 single base substitution T C upstream_gene_variant MELA-AU 22 30755902 30755902 single base substitution G A upstream_gene_variant MELA-AU 22 30756209 30756210 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 22 30756488 30756488 single base substitution C T upstream_gene_variant MELA-AU 22 30756760 30756760 single base substitution G A upstream_gene_variant MELA-AU 22 30757004 30757004 single base substitution C T upstream_gene_variant ORCA-IN 22 30724697 30724697 single base substitution T C downstream_gene_variant ORCA-IN 22 30735240 30735240 single base substitution C G downstream_gene_variant ORCA-IN 22 30735240 30735240 single base substitution C G intron_variant ORCA-IN 22 30735240 30735240 single base substitution C G missense_variant G394A 1181G>C ORCA-IN 22 30735240 30735240 single base substitution C G missense_variant G459A 1376G>C ORCA-IN 22 30735240 30735240 single base substitution C G splice_region_variant ORCA-IN 22 30737576 30737576 single base substitution C G downstream_gene_variant ORCA-IN 22 30737576 30737576 single base substitution C G intron_variant ORCA-IN 22 30737576 30737576 single base substitution C G upstream_gene_variant OV-AU 22 30724175 30724175 single base substitution C T downstream_gene_variant OV-AU 22 30728384 30728384 single base substitution C A 3_prime_UTR_variant OV-AU 22 30729200 30729200 single base substitution T C 3_prime_UTR_variant OV-AU 22 30729200 30729200 single base substitution T C downstream_gene_variant OV-AU 22 30751112 30751112 single base substitution C G intron_variant OV-US 22 30735183 30735183 single base substitution C A downstream_gene_variant OV-US 22 30735183 30735183 single base substitution C A exon_variant OV-US 22 30735183 30735183 single base substitution C A intron_variant OV-US 22 30735183 30735183 single base substitution C A missense_variant G413V 1238G>T OV-US 22 30735183 30735183 single base substitution C A missense_variant G478V 1433G>T OV-US 22 30742390 30742390 single base substitution T A exon_variant OV-US 22 30742390 30742390 single base substitution T A intron_variant OV-US 22 30742390 30742390 single base substitution T A stop_gained K102* 304A>T OV-US 22 30742390 30742390 single base substitution T A upstream_gene_variant PACA-AU 22 30723822 30723822 single base substitution C G downstream_gene_variant PACA-AU 22 30732670 30732670 single base substitution C A downstream_gene_variant PACA-AU 22 30732670 30732670 single base substitution C A intron_variant PACA-AU 22 30738351 30738351 single base substitution G A downstream_gene_variant PACA-AU 22 30738351 30738351 single base substitution G A intron_variant PACA-AU 22 30738351 30738351 single base substitution G A upstream_gene_variant PACA-AU 22 30738430 30738430 single base substitution G A downstream_gene_variant PACA-AU 22 30738430 30738430 single base substitution G A intron_variant PACA-AU 22 30738430 30738430 single base substitution G A upstream_gene_variant PACA-AU 22 30742328 30742330 deletion of <=200bp CTG - exon_variant PACA-AU 22 30742328 30742330 deletion of <=200bp CTG - inframe_deletion Q122 PACA-AU 22 30742328 30742330 deletion of <=200bp CTG - intron_variant PACA-AU 22 30742328 30742330 deletion of <=200bp CTG - upstream_gene_variant PACA-AU 22 30744822 30744822 single base substitution A G downstream_gene_variant PACA-AU 22 30744822 30744822 single base substitution A G intron_variant PACA-AU 22 30744822 30744822 single base substitution A G upstream_gene_variant PACA-AU 22 30748562 30748562 single base substitution T C exon_variant PACA-AU 22 30748562 30748562 single base substitution T C intron_variant PACA-AU 22 30752402 30752402 single base substitution C G intron_variant PACA-AU 22 30756557 30756557 single base substitution G A upstream_gene_variant PACA-CA 22 30724198 30724198 single base substitution G C downstream_gene_variant PACA-CA 22 30724211 30724211 single base substitution A G downstream_gene_variant PACA-CA 22 30724695 30724695 single base substitution C G downstream_gene_variant PACA-CA 22 30727577 30727577 single base substitution C A downstream_gene_variant PACA-CA 22 30728626 30728626 single base substitution A T 3_prime_UTR_variant PACA-CA 22 30744162 30744162 single base substitution G A downstream_gene_variant PACA-CA 22 30744162 30744162 single base substitution G A intron_variant PACA-CA 22 30744162 30744162 single base substitution G A upstream_gene_variant PACA-CA 22 30745727 30745727 single base substitution C G downstream_gene_variant PACA-CA 22 30745727 30745727 single base substitution C G intron_variant PACA-CA 22 30745727 30745727 single base substitution C G upstream_gene_variant PACA-CA 22 30748387 30748387 single base substitution G C downstream_gene_variant PACA-CA 22 30748387 30748387 single base substitution G C intron_variant PACA-CA 22 30748499 30748499 single base substitution C A downstream_gene_variant PACA-CA 22 30748499 30748499 single base substitution C A intron_variant PACA-CA 22 30752865 30752865 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 22 30752865 30752865 single base substitution G A exon_variant PAEN-AU 22 30749810 30749810 single base substitution G A intron_variant PAEN-IT 22 30736338 30736338 single base substitution C A downstream_gene_variant PAEN-IT 22 30736338 30736338 single base substitution C A exon_variant PAEN-IT 22 30736338 30736338 single base substitution C A intron_variant PAEN-IT 22 30736338 30736338 single base substitution C A missense_variant D104Y 310G>T PAEN-IT 22 30736338 30736338 single base substitution C A missense_variant D343Y 1027G>T PAEN-IT 22 30736338 30736338 single base substitution C A missense_variant D408Y 1222G>T PAEN-IT 22 30743729 30743729 single base substitution C T downstream_gene_variant PAEN-IT 22 30743729 30743729 single base substitution C T intron_variant PAEN-IT 22 30743729 30743729 single base substitution C T upstream_gene_variant PBCA-DE 22 30726141 30726141 insertion of <=200bp - A downstream_gene_variant PBCA-DE 22 30730370 30730371 deletion of <=200bp AG - 3_prime_UTR_variant PBCA-DE 22 30730370 30730371 deletion of <=200bp AG - downstream_gene_variant PBCA-DE 22 30740637 30740637 single base substitution A C downstream_gene_variant PBCA-DE 22 30740637 30740637 single base substitution A C intron_variant PBCA-DE 22 30740637 30740637 single base substitution A C upstream_gene_variant PRAD-CA 22 30747016 30747016 single base substitution G A downstream_gene_variant PRAD-CA 22 30747016 30747016 single base substitution G A intron_variant PRAD-CA 22 30747016 30747016 single base substitution G A upstream_gene_variant PRAD-CA 22 30748147 30748147 single base substitution A C downstream_gene_variant PRAD-CA 22 30748147 30748147 single base substitution A C intron_variant PRAD-UK 22 30723257 30723257 single base substitution C T downstream_gene_variant PRAD-UK 22 30731539 30731539 single base substitution A C downstream_gene_variant PRAD-UK 22 30731539 30731539 single base substitution A C intron_variant PRAD-UK 22 30737294 30737294 single base substitution G C downstream_gene_variant PRAD-UK 22 30737294 30737294 single base substitution G C intron_variant PRAD-UK 22 30737294 30737294 single base substitution G C upstream_gene_variant PRAD-US 22 30735202 30735202 single base substitution G A downstream_gene_variant PRAD-US 22 30735202 30735202 single base substitution G A exon_variant PRAD-US 22 30735202 30735202 single base substitution G A intron_variant PRAD-US 22 30735202 30735202 single base substitution G A missense_variant R407W 1219C>T PRAD-US 22 30735202 30735202 single base substitution G A missense_variant R472W 1414C>T PRAD-US 22 30736751 30736751 single base substitution T C downstream_gene_variant PRAD-US 22 30736751 30736751 single base substitution T C exon_variant PRAD-US 22 30736751 30736751 single base substitution T C intron_variant PRAD-US 22 30736751 30736751 single base substitution T C synonymous_variant T309T 927A>G PRAD-US 22 30736751 30736751 single base substitution T C synonymous_variant T374T 1122A>G PRAD-US 22 30736751 30736751 single base substitution T C synonymous_variant T70T 210A>G PRAD-US 22 30736751 30736751 single base substitution T C upstream_gene_variant PRAD-US 22 30737773 30737773 single base substitution C A downstream_gene_variant PRAD-US 22 30737773 30737773 single base substitution C A intron_variant PRAD-US 22 30737773 30737773 single base substitution C A missense_variant V23F 67G>T PRAD-US 22 30737773 30737773 single base substitution C A missense_variant V262F 784G>T PRAD-US 22 30737773 30737773 single base substitution C A missense_variant V327F 979G>T PRAD-US 22 30737773 30737773 single base substitution C A upstream_gene_variant PRAD-US 22 30742328 30742330 deletion of <=200bp CTG - exon_variant PRAD-US 22 30742328 30742330 deletion of <=200bp CTG - inframe_deletion Q122 PRAD-US 22 30742328 30742330 deletion of <=200bp CTG - intron_variant PRAD-US 22 30742328 30742330 deletion of <=200bp CTG - upstream_gene_variant RECA-EU 22 30739192 30739192 single base substitution G A downstream_gene_variant RECA-EU 22 30739192 30739192 single base substitution G A intron_variant RECA-EU 22 30739192 30739192 single base substitution G A upstream_gene_variant RECA-EU 22 30743298 30743298 single base substitution A T intron_variant RECA-EU 22 30743298 30743298 single base substitution A T upstream_gene_variant SKCA-BR 22 30726259 30726259 single base substitution G A downstream_gene_variant SKCA-BR 22 30726354 30726354 single base substitution C T downstream_gene_variant SKCA-BR 22 30726601 30726601 single base substitution G A downstream_gene_variant SKCA-BR 22 30731144 30731144 single base substitution A G downstream_gene_variant SKCA-BR 22 30731144 30731144 single base substitution A G intron_variant SKCA-BR 22 30732641 30732641 single base substitution G A downstream_gene_variant SKCA-BR 22 30732641 30732641 single base substitution G A intron_variant SKCA-BR 22 30733030 30733030 single base substitution G A downstream_gene_variant SKCA-BR 22 30733030 30733030 single base substitution G A synonymous_variant F632F 1896C>T SKCA-BR 22 30733030 30733030 single base substitution G A synonymous_variant F697F 2091C>T SKCA-BR 22 30733874 30733874 single base substitution C G 3_prime_UTR_variant SKCA-BR 22 30733874 30733874 single base substitution C G downstream_gene_variant SKCA-BR 22 30733874 30733874 single base substitution C G missense_variant V237L 709G>C SKCA-BR 22 30733874 30733874 single base substitution C G missense_variant V521L 1561G>C SKCA-BR 22 30733874 30733874 single base substitution C G missense_variant V586L 1756G>C SKCA-BR 22 30734541 30734541 single base substitution C T downstream_gene_variant SKCA-BR 22 30734541 30734541 single base substitution C T intron_variant SKCA-BR 22 30736323 30736323 single base substitution A G downstream_gene_variant SKCA-BR 22 30736323 30736323 single base substitution A G exon_variant SKCA-BR 22 30736323 30736323 single base substitution A G intron_variant SKCA-BR 22 30736323 30736323 single base substitution A G missense_variant S109P 325T>C SKCA-BR 22 30736323 30736323 single base substitution A G missense_variant S348P 1042T>C SKCA-BR 22 30736323 30736323 single base substitution A G missense_variant S413P 1237T>C SKCA-BR 22 30737867 30737867 single base substitution G A downstream_gene_variant SKCA-BR 22 30737867 30737867 single base substitution G A intron_variant SKCA-BR 22 30737867 30737867 single base substitution G A synonymous_variant F230F 690C>T SKCA-BR 22 30737867 30737867 single base substitution G A synonymous_variant F295F 885C>T SKCA-BR 22 30737867 30737867 single base substitution G A upstream_gene_variant SKCA-BR 22 30738066 30738066 single base substitution G A downstream_gene_variant SKCA-BR 22 30738066 30738066 single base substitution G A intron_variant SKCA-BR 22 30738066 30738066 single base substitution G A upstream_gene_variant SKCA-BR 22 30740524 30740524 single base substitution G A downstream_gene_variant SKCA-BR 22 30740524 30740524 single base substitution G A intron_variant SKCA-BR 22 30740524 30740524 single base substitution G A upstream_gene_variant SKCA-BR 22 30742440 30742440 single base substitution T G exon_variant SKCA-BR 22 30742440 30742440 single base substitution T G intron_variant SKCA-BR 22 30742440 30742440 single base substitution T G missense_variant N85T 254A>C SKCA-BR 22 30742440 30742440 single base substitution T G upstream_gene_variant SKCA-BR 22 30748061 30748061 single base substitution G A downstream_gene_variant SKCA-BR 22 30748061 30748061 single base substitution G A intron_variant SKCA-BR 22 30753148 30753148 single base substitution A C upstream_gene_variant SKCA-BR 22 30753657 30753658 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 22 30754143 30754143 single base substitution C T upstream_gene_variant SKCA-BR 22 30754250 30754250 single base substitution A G upstream_gene_variant SKCA-BR 22 30755060 30755060 single base substitution G A upstream_gene_variant SKCA-BR 22 30757295 30757295 single base substitution A G upstream_gene_variant SKCM-US 22 30733846 30733846 single base substitution G A 3_prime_UTR_variant SKCM-US 22 30733846 30733846 single base substitution G A downstream_gene_variant SKCM-US 22 30733846 30733846 single base substitution G A missense_variant P246L 737C>T SKCM-US 22 30733846 30733846 single base substitution G A missense_variant P530L 1589C>T SKCM-US 22 30733846 30733846 single base substitution G A missense_variant P595L 1784C>T SKCM-US 22 30735145 30735145 single base substitution C T downstream_gene_variant SKCM-US 22 30735145 30735145 single base substitution C T exon_variant SKCM-US 22 30735145 30735145 single base substitution C T intron_variant SKCM-US 22 30735145 30735145 single base substitution C T missense_variant E426K 1276G>A SKCM-US 22 30735145 30735145 single base substitution C T missense_variant E491K 1471G>A SKCM-US 22 30735185 30735185 single base substitution G A downstream_gene_variant SKCM-US 22 30735185 30735185 single base substitution G A exon_variant SKCM-US 22 30735185 30735185 single base substitution G A intron_variant SKCM-US 22 30735185 30735185 single base substitution G A synonymous_variant F412F 1236C>T SKCM-US 22 30735185 30735185 single base substitution G A synonymous_variant F477F 1431C>T SKCM-US 22 30741037 30741037 single base substitution C T downstream_gene_variant SKCM-US 22 30741037 30741037 single base substitution C T exon_variant SKCM-US 22 30741037 30741037 single base substitution C T intron_variant SKCM-US 22 30741037 30741037 single base substitution C T missense_variant R114H 341G>A SKCM-US 22 30741037 30741037 single base substitution C T missense_variant R179H 536G>A SKCM-US 22 30741037 30741037 single base substitution C T upstream_gene_variant SKCM-US 22 30741121 30741121 single base substitution T G downstream_gene_variant SKCM-US 22 30741121 30741121 single base substitution T G exon_variant SKCM-US 22 30741121 30741121 single base substitution T G intron_variant SKCM-US 22 30741121 30741121 single base substitution T G missense_variant E151A 452A>C SKCM-US 22 30741121 30741121 single base substitution T G upstream_gene_variant SKCM-US 22 30741170 30741170 single base substitution G A downstream_gene_variant SKCM-US 22 30741170 30741170 single base substitution G A exon_variant SKCM-US 22 30741170 30741170 single base substitution G A intron_variant SKCM-US 22 30741170 30741170 single base substitution G A stop_gained Q135* 403C>T SKCM-US 22 30741170 30741170 single base substitution G A upstream_gene_variant SKCM-US 22 30741175 30741175 single base substitution T G downstream_gene_variant SKCM-US 22 30741175 30741175 single base substitution T G exon_variant SKCM-US 22 30741175 30741175 single base substitution T G intron_variant SKCM-US 22 30741175 30741175 single base substitution T G missense_variant Q133P 398A>C SKCM-US 22 30741175 30741175 single base substitution T G upstream_gene_variant SKCM-US 22 30742328 30742330 deletion of <=200bp CTG - exon_variant SKCM-US 22 30742328 30742330 deletion of <=200bp CTG - inframe_deletion Q122 SKCM-US 22 30742328 30742330 deletion of <=200bp CTG - intron_variant SKCM-US 22 30742328 30742330 deletion of <=200bp CTG - upstream_gene_variant SKCM-US 22 30742459 30742459 single base substitution G A exon_variant SKCM-US 22 30742459 30742459 single base substitution G A intron_variant SKCM-US 22 30742459 30742459 single base substitution G A missense_variant P79S 235C>T SKCM-US 22 30742459 30742459 single base substitution G A upstream_gene_variant SKCM-US 22 30742481 30742481 single base substitution G A exon_variant SKCM-US 22 30742481 30742481 single base substitution G A intron_variant SKCM-US 22 30742481 30742481 single base substitution G A synonymous_variant I71I 213C>T SKCM-US 22 30742481 30742481 single base substitution G A upstream_gene_variant STAD-US 22 30730630 30730630 single base substitution C T downstream_gene_variant STAD-US 22 30730630 30730630 single base substitution C T missense_variant A714T 2140G>A STAD-US 22 30730630 30730630 single base substitution C T missense_variant A779T 2335G>A STAD-US 22 30730631 30730631 single base substitution G A downstream_gene_variant STAD-US 22 30730631 30730631 single base substitution G A synonymous_variant G713G 2139C>T STAD-US 22 30730631 30730631 single base substitution G A synonymous_variant G778G 2334C>T STAD-US 22 30731741 30731741 single base substitution C T downstream_gene_variant STAD-US 22 30731741 30731741 single base substitution C T missense_variant G638D 1913G>A STAD-US 22 30731741 30731741 single base substitution C T missense_variant G703D 2108G>A STAD-US 22 30734814 30734814 single base substitution C T 3_prime_UTR_variant STAD-US 22 30734814 30734814 single base substitution C T downstream_gene_variant STAD-US 22 30734814 30734814 single base substitution C T synonymous_variant S220S 660G>A STAD-US 22 30734814 30734814 single base substitution C T synonymous_variant S504S 1512G>A STAD-US 22 30734814 30734814 single base substitution C T synonymous_variant S569S 1707G>A STAD-US 22 30734847 30734847 single base substitution C T 3_prime_UTR_variant STAD-US 22 30734847 30734847 single base substitution C T downstream_gene_variant STAD-US 22 30734847 30734847 single base substitution C T exon_variant STAD-US 22 30734847 30734847 single base substitution C T synonymous_variant P209P 627G>A STAD-US 22 30734847 30734847 single base substitution C T synonymous_variant P493P 1479G>A STAD-US 22 30734847 30734847 single base substitution C T synonymous_variant P558P 1674G>A STAD-US 22 30738209 30738209 single base substitution T C downstream_gene_variant STAD-US 22 30738209 30738209 single base substitution T C intron_variant STAD-US 22 30738209 30738209 single base substitution T C missense_variant D221G 662A>G STAD-US 22 30738209 30738209 single base substitution T C missense_variant D286G 857A>G STAD-US 22 30738209 30738209 single base substitution T C upstream_gene_variant THCA-SA 22 30729507 30729507 single base substitution G A 3_prime_UTR_variant THCA-SA 22 30729507 30729507 single base substitution G A downstream_gene_variant THCA-US 22 30734812 30734812 single base substitution G A 3_prime_UTR_variant THCA-US 22 30734812 30734812 single base substitution G A downstream_gene_variant THCA-US 22 30734812 30734812 single base substitution G A missense_variant A221V 662C>T THCA-US 22 30734812 30734812 single base substitution G A missense_variant A505V 1514C>T THCA-US 22 30734812 30734812 single base substitution G A missense_variant A570V 1709C>T UCEC-US 22 30733844 30733844 single base substitution C T 3_prime_UTR_variant UCEC-US 22 30733844 30733844 single base substitution C T downstream_gene_variant UCEC-US 22 30733844 30733844 single base substitution C T missense_variant V247I 739G>A UCEC-US 22 30733844 30733844 single base substitution C T missense_variant V531I 1591G>A UCEC-US 22 30733844 30733844 single base substitution C T missense_variant V596I 1786G>A UCEC-US 22 30734815 30734815 single base substitution G A 3_prime_UTR_variant UCEC-US 22 30734815 30734815 single base substitution G A downstream_gene_variant UCEC-US 22 30734815 30734815 single base substitution G A missense_variant S220L 659C>T UCEC-US 22 30734815 30734815 single base substitution G A missense_variant S504L 1511C>T UCEC-US 22 30734815 30734815 single base substitution G A missense_variant S569L 1706C>T UCEC-US 22 30738244 30738244 single base substitution G A downstream_gene_variant UCEC-US 22 30738244 30738244 single base substitution G A intron_variant UCEC-US 22 30738244 30738244 single base substitution G A synonymous_variant I209I 627C>T UCEC-US 22 30738244 30738244 single base substitution G A synonymous_variant I274I 822C>T UCEC-US 22 30738244 30738244 single base substitution G A upstream_gene_variant UCEC-US 22 30741087 30741087 single base substitution G A downstream_gene_variant UCEC-US 22 30741087 30741087 single base substitution G A exon_variant UCEC-US 22 30741087 30741087 single base substitution G A intron_variant UCEC-US 22 30741087 30741087 single base substitution G A synonymous_variant F162F 486C>T UCEC-US 22 30741087 30741087 single base substitution G A upstream_gene_variant UCEC-US 22 30742337 30742337 single base substitution C T exon_variant UCEC-US 22 30742337 30742337 single base substitution C T intron_variant UCEC-US 22 30742337 30742337 single base substitution C T synonymous_variant Q119Q 357G>A UCEC-US 22 30742337 30742337 single base substitution C T upstream_gene_variant UCEC-US 22 30742368 30742368 single base substitution G C exon_variant UCEC-US 22 30742368 30742368 single base substitution G C intron_variant UCEC-US 22 30742368 30742368 single base substitution G C missense_variant P109R 326C>G UCEC-US 22 30742368 30742368 single base substitution G C splice_region_variant UCEC-US 22 30742368 30742368 single base substitution G C upstream_gene_variant UCEC-US 22 30742485 30742485 single base substitution C A exon_variant UCEC-US 22 30742485 30742485 single base substitution C A intron_variant UCEC-US 22 30742485 30742485 single base substitution C A missense_variant R70M 209G>T UCEC-US 22 30742485 30742485 single base substitution C A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PDA_102 COSM5003607 c.173G>T p.S58I Substitution - Missense 22:30352963-30352963 - TCGA-C4-A0F6-01 COSM419598 c.147C>G p.V49V Substitution - coding silent 22:30352989-30352989 - 7b COSM1415712 c.36G>A p.P12P Substitution - coding silent 22:30356757-30356757 - TCGA-EE-A2M5-06 COSM3553279 c.403C>T p.Q135* Substitution - Nonsense 22:30345181-30345181 - TCGA-EM-A2CN-01 COSM3371892 c.1709C>T p.A570V Substitution - Missense 22:30338823-30338823 - TCGA-CM-4746-01 COSM1415709 c.1414C>T p.R472W Substitution - Missense 22:30339213-30339213 - Mx32 COSM32683 c.1531C>T p.R511W Substitution - Missense 22:30339001-30339001 - TCGA-EJ-A46G-01 COSM3783545 c.979G>T p.V327F Substitution - Missense 22:30341784-30341784 - TCGA-DA-A1HW-06 COSM1177475 c.1431C>T p.F477F Substitution - coding silent 22:30339196-30339196 - 4_RESISTANT COSM1724647 c.364_366delCAG p.Q122delQ Deletion - In frame 22:30346339-30346341 - 18 COSM184726 c.509C>T p.T170M Substitution - Missense 22:30345075-30345075 - T3724 COSM4725281 c.2061A>G p.T687T Substitution - coding silent 22:30337071-30337071 - TCGA-EJ-5519-01 COSM1130461 c.1122A>G p.T374T Substitution - coding silent 22:30340762-30340762 - TCGA-BR-4184-01 COSM4103419 c.2334C>T p.G778G Substitution - coding silent 22:30334642-30334642 - T670 COSM1724647 c.364_366delCAG p.Q122delQ Deletion - In frame 22:30346339-30346341 - NCI-H716 COSM4647008 c.1162A>C p.I388L Substitution - Missense 22:30340722-30340722 - 2521259 COSM5891242 c.1330C>T p.R444C Substitution - Missense 22:30340241-30340241 - TCGA-FW-A3R5-06 COSM3912596 c.213C>T p.I71I Substitution - coding silent 22:30346492-30346492 - sysucc-1397T COSM2936975 c.222C>T p.N74N Substitution - coding silent 22:30346483-30346483 - HCA7 COSM4630728 c.297C>T p.S99S Substitution - coding silent 22:30346408-30346408 - pfg127T COSM4103418 c.2335G>A p.A779T Substitution - Missense 22:30334641-30334641 - Pat_06_A COSM1724647 c.364_366delCAG p.Q122delQ Deletion - In frame 22:30346339-30346341 - TCGA-D8-A1XZ-01 COSM1484149 c.1854G>A p.P618P Substitution - coding silent 22:30337787-30337787 - SNU-175 COSM2936972 c.284G>A p.R95H Substitution - Missense 22:30346421-30346421 - PD8739a COSM4385229 c.1952-7T>G p.? Unknown 22:30337187-30337187 - TCGA-34-2600-01 COSM725960 c.2370G>A p.G790G Substitution - coding silent 22:30334606-30334606 - Pat_37_B COSM1724647 c.364_366delCAG p.Q122delQ Deletion - In frame 22:30346339-30346341 - TCGA-AA-3510-01 COSM1415706 c.1674G>A p.P558P Substitution - coding silent 22:30338858-30338858 - TCGA-FD-A3SS-01 COSM3800128 c.1387G>C p.E463Q Substitution - Missense 22:30339240-30339240 - AML_611 COSM5879806 c.1757T>G p.V586G Substitution - Missense 22:30337884-30337884 - TCGA-BR-8591-01 COSM4103421 c.1707G>A p.S569S Substitution - coding silent 22:30338825-30338825 - PT35 COSM5914431 c.592C>T p.L198F Substitution - Missense 22:30344992-30344992 - TCGA-BH-A18G-01 COSM3842457 c.1796G>A p.R599Q Substitution - Missense 22:30337845-30337845 - MO_1410 COSM5562283 c.1105C>T p.P369S Substitution - Missense 22:30340779-30340779 - TCGA-EU-5906-01 COSM478860 c.633A>T p.L211L Substitution - coding silent 22:30344951-30344951 - T3535 COSM4725282 c.2026A>G p.M676V Substitution - Missense 22:30337106-30337106 - AML_490 COSM5879808 c.1444A>G p.T482A Substitution - Missense 22:30339183-30339183 - TCGA-13-1510-01 COSM117468 c.856G>T p.D286Y Substitution - Missense 22:30342221-30342221 - TCGA-BC-4073-01 COSM4385231 c.223G>A p.E75K Substitution - Missense 22:30346482-30346482 - CSCC-31-T COSM4474235 c.1905C>T p.A635A Substitution - coding silent 22:30337736-30337736 - 2321332 COSM4775038 c.222C>G p.N74K Substitution - Missense 22:30346483-30346483 - TCGA-D8-A1XK-01 COSM3842458 c.1229A>G p.Y410C Substitution - Missense 22:30340342-30340342 - Pat_53_B COSM1724647 c.364_366delCAG p.Q122delQ Deletion - In frame 22:30346339-30346341 - TCGA-AP-A051-01 COSM1033261 c.209G>T p.R70M Substitution - Missense 22:30346496-30346496 - MDS-07 COSM211503 c.692A>C p.K231T Substitution - Missense 22:30342839-30342839 - TCGA-06-0128-01 COSM3405584 c.709C>T p.R237* Substitution - Nonsense 22:30342822-30342822 - 2321354 COSM4385231 c.223G>A p.E75K Substitution - Missense 22:30346482-30346482 - TCGA-AZ-6598-01 COSM1415710 c.887C>A p.P296H Substitution - Missense 22:30341876-30341876 - TCGA-66-2778-01 COSM725958 c.1477A>T p.I493F Substitution - Missense 22:30339150-30339150 - 17 COSM5762938 c.475A>G p.I159V Substitution - Missense 22:30345109-30345109 - LUAD-E00934 COSM393498 c.423C>T p.I141I Substitution - coding silent 22:30345161-30345161 - TCGA-CM-6674-01 COSM1415711 c.366_367insCAG p.Q122_T123insQ Insertion - In frame 22:30346338-30346339 - EOPC-031_tumor COSM5950573 c.1866C>T p.H622H Substitution - coding silent 22:30337775-30337775 - TCGA-BG-A0LX-01 COSM1033254 c.2095C>T p.R699C Substitution - Missense 22:30337037-30337037 - CHC1731T COSM4792058 c.107C>T p.S36F Substitution - Missense 22:30353029-30353029 - SW1463 COSM2936937 c.1843G>A p.A615T Substitution - Missense 22:30337798-30337798 - ESO-0015 COSM1265372 c.2241C>T p.A747A Substitution - coding silent 22:30335506-30335506 - HCC131T COSM1616360 c.1744-9C>A p.? Unknown 22:30337906-30337906 - BN26T COSM1616361 c.706C>A p.P236T Substitution - Missense 22:30342825-30342825 - TCGA-GN-A262-06 COSM3553278 c.1471G>A p.E491K Substitution - Missense 22:30339156-30339156 - TCGA-AA-3663-01 COSM1415705 c.1904C>T p.A635V Substitution - Missense 22:30337737-30337737 - 2321367 COSM4385231 c.223G>A p.E75K Substitution - Missense 22:30346482-30346482 - TCGA-FS-A1ZW-06 COSM3553280 c.398A>C p.Q133P Substitution - Missense 22:30345186-30345186 - TCGA-41-2571-01 COSM3405583 c.747G>A p.W249* Substitution - Nonsense 22:30342330-30342330 - TCGA-B5-A0K2-01 COSM1033259 c.357G>A p.Q119Q Substitution - coding silent 22:30346348-30346348 - PD7872a COSM5945451 c.1532G>A p.R511Q Substitution - Missense 22:30339000-30339000 - TCGA-AX-A0IW-01 COSM1033260 c.326C>G p.P109R Substitution - Missense 22:30346379-30346379 - AML_76 COSM5879807 c.1583C>A p.A528D Substitution - Missense 22:30338949-30338949 - Pat_24_A COSM5859153 c.1465G>A p.G489S Substitution - Missense 22:30339162-30339162 - ESCC-F21 COSM5047350 c.991G>A p.E331K Substitution - Missense 22:30341772-30341772 - TCGA-Q1-A73O-01 COSM4835127 c.1167C>G p.V389V Substitution - coding silent 22:30340717-30340717 - TCGA-BR-6452-01 COSM4103422 c.857A>G p.D286G Substitution - Missense 22:30342220-30342220 - T2583 COSM1724647 c.364_366delCAG p.Q122delQ Deletion - In frame 22:30346339-30346341 - CSCC-7-T COSM4479736 c.2352C>T p.A784A Substitution - coding silent 22:30334624-30334624 - TCGA-ER-A3EV-06 COSM3912594 c.536G>A p.R179H Substitution - Missense 22:30345048-30345048 - CHC892T COSM4797007 c.296G>A p.S99N Substitution - Missense 22:30346409-30346409 - Pa37X COSM84757 c.65C>A p.P22H Substitution - Missense 22:30353071-30353071 - PD7077a COSM4385228 c.2096G>A p.R699H Substitution - Missense 22:30337036-30337036 - SC_9083 COSM5566591 c.1925G>C p.R642P Substitution - Missense 22:30337716-30337716 - pfg212T COSM4752028 c.469C>T p.P157S Substitution - Missense 22:30345115-30345115 - B109-Tumor COSM4004892 c.328T>C p.S110P Substitution - Missense 22:30346377-30346377 - YUOMEGA COSM5393399 c.442C>T p.P148S Substitution - Missense 22:30345142-30345142 - J30_T COSM3964194 c.1439A>T p.E480V Substitution - Missense 22:30339188-30339188 - CSCC-27-T COSM1177475 c.1431C>T p.F477F Substitution - coding silent 22:30339196-30339196 - YUOMEGA COSM5393397 c.1659C>T p.I553I Substitution - coding silent 22:30338873-30338873 - T3225 COSM1484149 c.1854G>A p.P618P Substitution - coding silent 22:30337787-30337787 - H1155 COSM1196071 c.809C>T p.A270V Substitution - Missense 22:30342268-30342268 - PTC-14C COSM4156134 c.1263C>A p.P421P Substitution - coding silent 22:30340308-30340308 - YUJUBE COSM5393398 c.823G>A p.D275N Substitution - Missense 22:30342254-30342254 - TCGA-AA-3844-01 COSM295301 c.1695C>T p.N565N Substitution - coding silent 22:30338837-30338837 - LS180 COSM2936930 c.2248A>G p.M750V Substitution - Missense 22:30335499-30335499 - PD8936a COSM4385230 c.651+3G>A p.? Unknown 22:30344930-30344930 - TCGA-13-0920-01 COSM79282 c.304A>T p.K102* Substitution - Nonsense 22:30346401-30346401 - LS174T COSM2936935 c.2024C>A p.P675H Substitution - Missense 22:30337108-30337108 - S01453 COSM315113 c.1448_1450delCCA p.A483_I484>V Complex - deletion inframe 22:30339177-30339179 - S01453 COSM315113 c.1448_1450delCCA p.A483_I484>V Complex - deletion inframe 22:30339177-30339179 - TCGA-BR-4184-01 COSM1415706 c.1674G>A p.P558P Substitution - coding silent 22:30338858-30338858 - S02376 COSM5697114 c.1423G>T p.D475Y Substitution - Missense 22:30339204-30339204 - YUKLAB COSM1714264 c.2024C>T p.P675L Substitution - Missense 22:30337108-30337108 - LC_C9 COSM1190415 c.957G>T p.E319D Substitution - Missense 22:30341806-30341806 - CAL27 COSM2936970 c.361C>T p.Q121* Substitution - Nonsense 22:30346344-30346344 - RKO COSM2936936 c.1889C>T p.P630L Substitution - Missense 22:30337752-30337752 - TCGA-D9-A6EC-06 COSM4404092 c.452A>C p.E151A Substitution - Missense 22:30345132-30345132 - MOLT-4 COSM1682196 c.603G>T p.Q201H Substitution - Missense 22:30344981-30344981 - 2321332 COSM4385231 c.223G>A p.E75K Substitution - Missense 22:30346482-30346482 - Pat_41_B COSM5859154 c.770G>A p.R257K Substitution - Missense 22:30342307-30342307 - CHC892T COSM4797007 c.296G>A p.S99N Substitution - Missense 22:30346409-30346409 - TCGA-KK-A6E2-01 COSM1415709 c.1414C>T p.R472W Substitution - Missense 22:30339213-30339213 - HCC58 COSM3708203 c.1460A>G p.K487R Substitution - Missense 22:30339167-30339167 - S0029 COSM5883665 c.2330A>T p.N777I Substitution - Missense 22:30334646-30334646 - Pat_41_B COSM5859155 c.394G>A p.V132I Substitution - Missense 22:30345190-30345190 - TCGA-UB-A7MF-01 COSM4918938 c.2084A>T p.E695V Substitution - Missense 22:30337048-30337048 - CHC892T COSM4960107 c.916G>A p.A306T Substitution - Missense 22:30341847-30341847 - IGROV-1 COSM1682195 c.1516T>G p.S506A Substitution - Missense 22:30339016-30339016 - CHC892T COSM4960107 c.916G>A p.A306T Substitution - Missense 22:30341847-30341847 - TCGA-BQ-5885-01 COSM3992091 c.905A>T p.E302V Substitution - Missense 22:30341858-30341858 - T155 COSM1177475 c.1431C>T p.F477F Substitution - coding silent 22:30339196-30339196 - LS174T COSM2936930 c.2248A>G p.M750V Substitution - Missense 22:30335499-30335499 - 863TCS COSM673763 c.615_616insC p.N206fs*29 Insertion - Frameshift 22:30344968-30344969 - CHC1731T COSM4792058 c.107C>T p.S36F Substitution - Missense 22:30353029-30353029 - Pat_06_B COSM1724647 c.364_366delCAG p.Q122delQ Deletion - In frame 22:30346339-30346341 - TCGA-BR-6452-01 COSM4103418 c.2335G>A p.A779T Substitution - Missense 22:30334641-30334641 - T1154 COSM4725283 c.1760G>A p.R587H Substitution - Missense 22:30337881-30337881 - TCGA-12-0821-01 COSM3748171 c.1248T>G p.T416T Substitution - coding silent 22:30340323-30340323 - LIM2405 COSM4642617 c.1353C>T p.S451S Substitution - coding silent 22:30340218-30340218 - PET052T COSM5824999 c.1222G>T p.D408Y Substitution - Missense 22:30340349-30340349 - TCGA-D1-A16F-01 COSM1033255 c.1786G>A p.V596I Substitution - Missense 22:30337855-30337855 - Pat_41_B COSM5859152 c.2173C>T p.Q725* Substitution - Nonsense 22:30335687-30335687 - OSCC-GB_01060111 COSM4882665 c.1376G>C p.G459A Substitution - Missense 22:30339251-30339251 - TCGA-B5-A0JY-01 COSM1033257 c.822C>T p.I274I Substitution - coding silent 22:30342255-30342255 - TCGA-B0-5695-01 COSM478859 c.1279G>C p.E427Q Substitution - Missense 22:30340292-30340292 - HRA19 COSM4637876 c.271C>T p.H91Y Substitution - Missense 22:30346434-30346434 - PD7219a COSM5775148 c.937C>T p.R313C Substitution - Missense 22:30341826-30341826 - PD6185a COSM4385231 c.223G>A p.E75K Substitution - Missense 22:30346482-30346482 - STC232 COSM1033254 c.2095C>T p.R699C Substitution - Missense 22:30337037-30337037 - TCGA-24-2024-01 COSM72610 c.2131G>T p.V711L Substitution - Missense 22:30335729-30335729 - T3059 COSM1724647 c.364_366delCAG p.Q122delQ Deletion - In frame 22:30346339-30346341 - TCGA-23-1124-01 COSM76397 c.1433G>T p.G478V Substitution - Missense 22:30339194-30339194 - TCGA-EE-A29L-06 COSM3553277 c.1784C>T p.P595L Substitution - Missense 22:30337857-30337857 - Pat_53_A COSM1724647 c.364_366delCAG p.Q122delQ Deletion - In frame 22:30346339-30346341 - TCGA-AP-A0LM-01 COSM1033258 c.486C>T p.F162F Substitution - coding silent 22:30345098-30345098 - BN26 COSM1616361 c.706C>A p.P236T Substitution - Missense 22:30342825-30342825 - ESCC-D4 COSM5046279 c.721G>C p.D241H Substitution - Missense 22:30342810-30342810 - SYN07PT2 COSM1732534 c.920G>T p.R307L Substitution - Missense 22:30341843-30341843 - SC_9107 COSM5562283 c.1105C>T p.P369S Substitution - Missense 22:30340779-30340779 - TCGA-AP-A0LM-01 COSM1033256 c.1706C>T p.S569L Substitution - Missense 22:30338826-30338826 - LS180 COSM2936935 c.2024C>A p.P675H Substitution - Missense 22:30337108-30337108 - PD6110a COSM4385231 c.223G>A p.E75K Substitution - Missense 22:30346482-30346482 - TCGA-FW-A3R5-06 COSM3912595 c.235C>T p.P79S Substitution - Missense 22:30346470-30346470 - TCGA-DK-A2I4-01 COSM3800126 c.2373G>A p.R791R Substitution - coding silent 22:30334603-30334603 - CSCC-31-T COSM4565943 c.275_276CC>TT p.A92V Substitution - Missense 22:30346429-30346430 - pfg016T COSM1641527 c.2063_2064delAG p.E688fs*29 Deletion - Frameshift 22:30337068-30337069 - HCC58T COSM3708203 c.1460A>G p.K487R Substitution - Missense 22:30339167-30339167 - TCGA-DK-A3X1-01 COSM3800127 c.2086G>T p.E696* Substitution - Nonsense 22:30337046-30337046 - sysucc-1397T COSM5474412 c.1194C>A p.S398S Substitution - coding silent 22:30340377-30340377 - YULAPE COSM1714265 c.1334C>T p.S445F Substitution - Missense 22:30340237-30340237 - TCGA-BR-A4PD-01 COSM4103420 c.2108G>A p.G703D Substitution - Missense 22:30335752-30335752 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.406277 22q12.2 605595

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.T416T c.1248T>G 22 30736312 GBM C A Missense p.D286Y c.856G>T 22 30738210 OV C A Missense p.G478V c.1433G>T 22 30735183 OV C A Missense p.G489C c.1465G>T 22 30735151 LUAD C A Missense p.P22H c.65C>A 22 30749060 PAAD C A Missense p.V327F c.979G>T 22 30737773 PRAD C A Missense p.V711L c.2131G>T 22 30731718 OV C G Missense p.E427Q c.1279G>C 22 30736281 RCCC CT - Frameshift p.E688Gfs*29 c.2063_2064delAG 22 30733057 STAD CTG - InFrameDeletion p.Q122delQ c.364_366delCAG 22 30742328 CM C T Missense p.E491K c.1471G>A 22 30735145 CM C T Missense p.R179H c.536G>A 22 30741037 CM C T Missense p.R511W c.1531C>T 22 30734990 COREAD C T Missense p.V596I c.1786G>A 22 30733844 UCEC C T Nonsense p.W249* c.747G>A 22 30738319 GBM C T Synonymous p.E302E c.906G>A 22 30737846 CM C T Synonymous p.G790G c.2370G>A 22 30730595 LUSC C T Synonymous p.P618P c.1854G>A 22 30733776 BRCA C T Synonymous p.Q119Q c.357G>A 22 30742337 UCEC C T Synonymous p.R791R c.2373G>A 22 30730592 BLCA G A Missense p.A570V c.1709C>T 22 30734812 THCA G A Missense p.P147S c.439C>T 22 30741134 LUAD G A Missense p.P595L c.1784C>T 22 30733846 CM G A Missense p.R472W c.1414C>T 22 30735202 PRAD G A Missense p.T170M c.509C>T 22 30741064 COREAD G A Nonsense p.Q135* c.403C>T 22 30741170 CM G A Nonsense p.R237* c.709C>T 22 30738811 GBM G A Synonymous p.A747A c.2241C>T 22 30731495 ESCA G A Synonymous p.F477F c.1431C>T 22 30735185 CM G A Synonymous p.L309L c.927C>T 22 30737825 CM G A Synonymous p.N565N c.1695C>T 22 30734826 COREAD G C Missense p.A69G c.206C>G 22 30742488 LUAD G C Missense p.P109R c.326C>G 22 30742368 UCEC G C Synonymous p.V49V c.147C>G 22 30748978 BLCA T A Missense p.I493F c.1477A>T 22 30735139 LUSC T A Nonsense p.K102* c.304A>T 22 30742390 OV T A Synonymous p.L211L c.633A>T 22 30740940 RCCC T C Missense p.I762V c.2284A>G 22 30730681 HNSC T C Missense p.Y271C c.812A>G 22 30738254 LUAD T C Synonymous p.T374T c.1122A>G 22 30736751 PRAD T G Missense p.Q133P c.398A>C 22 30741175 CM