Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 22 19373067 19373067 + Frame_Shift_Del DEL C C - TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr22:19373067delC c.1306delG c.(1306-1308)gagfs p.E436fs BLCA 22 19338903 19338903 + Missense_Mutation SNP C C A TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr22:19338903C>A c.2915G>T c.(2914-2916)aGc>aTc p.S972I BLCA 22 19341607 19341607 + Nonsense_Mutation SNP G G A TCGA-YF-AA3L-01A-11D-A38G-08 TCGA-YF-AA3L-10A-01D-A38J-08 g.chr22:19341607G>A c.2596C>T c.(2596-2598)Cag>Tag p.Q866* BLCA 22 19347005 19347005 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr22:19347005G>C c.2088C>G c.(2086-2088)gtC>gtG p.V696V BLCA 22 19349330 19349330 + Missense_Mutation SNP C C G TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr22:19349330C>G c.1900G>C c.(1900-1902)Gag>Cag p.E634Q BLCA 22 19349417 19349417 + Nonsense_Mutation SNP G G A TCGA-4Z-AA7O-01A-31D-A391-08 TCGA-4Z-AA7O-10A-01D-A394-08 g.chr22:19349417G>A c.1813C>T c.(1813-1815)Cga>Tga p.R605* BLCA 22 19363188 19363188 + Missense_Mutation SNP C C A TCGA-CU-A72E-01A-12D-A339-08 TCGA-CU-A72E-10A-01D-A339-08 g.chr22:19363188C>A c.1741G>T c.(1741-1743)Gcc>Tcc p.A581S BLCA 22 19365415 19365415 + Silent SNP T T C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 g.chr22:19365415T>C c.1590A>G c.(1588-1590)gcA>gcG p.A530A BLCA 22 19365559 19365559 + Silent SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr22:19365559G>T c.1446C>A c.(1444-1446)atC>atA p.I482I BLCA 22 19371166 19371166 + Silent SNP G G C TCGA-GD-A6C6-01A-21D-A31L-08 TCGA-GD-A6C6-10A-01D-A31J-08 g.chr22:19371166G>C c.1392C>G c.(1390-1392)ctC>ctG p.L464L BLCA 22 19379666 19379666 + Nonsense_Mutation SNP G G T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr22:19379666G>T c.894C>A c.(892-894)tgC>tgA p.C298* BLCA 22 19379720 19379720 + Missense_Mutation SNP G G C TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 g.chr22:19379720G>C c.840C>G c.(838-840)atC>atG p.I280M BLCA 22 19384454 19384454 + Silent SNP C C T TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr22:19384454C>T c.510G>A c.(508-510)ctG>ctA p.L170L BLCA 22 19384471 19384471 + Splice_Site SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 g.chr22:19384471C>T c.e7-1 BLCA 22 19393309 19393309 + Splice_Site SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 g.chr22:19393309C>T c.397G>A c.(397-399)Gat>Aat p.D133N BLCA 22 19396014 19396014 + Missense_Mutation SNP T T C TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr22:19396014T>C c.203A>G c.(202-204)aAt>aGt p.N68S BLCA 22 19398286 19398286 + Missense_Mutation SNP G G A TCGA-UY-A9PD-01A-11D-A38G-08 TCGA-UY-A9PD-10A-01D-A38J-08 g.chr22:19398286G>A c.53C>T c.(52-54)tCa>tTa p.S18L BLCA 22 19418988 19418988 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr22:19418988C>T c.12G>A c.(10-12)ctG>ctA p.L4L BRCA 22 19338952 19338952 + Nonsense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr22:19338952G>A c.2866C>T c.(2866-2868)Cga>Tga p.R956* BRCA 22 19344476 19344476 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 g.chr22:19344476G>C c.2333C>G c.(2332-2334)tCt>tGt p.S778C BRCA 22 19346930 19346930 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 g.chr22:19346930C>T c.2163G>A c.(2161-2163)ctG>ctA p.L721L BRCA 22 19348811 19348811 + Silent SNP T T C TCGA-A2-A0T3-01A-21D-A10Y-09 TCGA-A2-A0T3-10A-01D-A110-09 g.chr22:19348811T>C c.2034A>G c.(2032-2034)gcA>gcG p.A678A BRCA 22 19349295 19349295 + Silent SNP C C T TCGA-B6-A0RU-01A-11D-A099-09 TCGA-B6-A0RU-10A-01D-A099-09 g.chr22:19349295C>T c.1935G>A c.(1933-1935)cgG>cgA p.R645R BRCA 22 19349345 19349345 + Nonsense_Mutation SNP G G A TCGA-BH-A0E7-01A-11W-A050-09 TCGA-BH-A0E7-10A-01W-A055-09 g.chr22:19349345G>A c.1885C>T c.(1885-1887)Cga>Tga p.R629* BRCA 22 19394707 19394707 + Splice_Site SNP G G A TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr22:19394707G>A c.302C>T c.(301-303)aCg>aTg p.T101M BRCA 22 19396057 19396057 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr22:19396057C>T c.160G>A c.(160-162)Gag>Aag p.E54K CESC 22 19349384 19349384 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr22:19349384C>G c.1846G>C c.(1846-1848)Gag>Cag p.E616Q CESC 22 19373227 19373227 + Missense_Mutation SNP G G T TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 g.chr22:19373227G>T c.1146C>A c.(1144-1146)agC>agA p.S382R CHOL 22 19344493 19344493 + Silent SNP G G A TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr22:19344493G>A c.2316C>T c.(2314-2316)ctC>ctT p.L772L CHOL 22 19373053 19373053 + Silent SNP A A G TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr22:19373053A>G c.1320T>C c.(1318-1320)gaT>gaC p.D440D COAD 22 19344545 19344545 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr22:19344545C>T c.2264G>A c.(2263-2265)aGg>aAg p.R755K COAD 22 19346868 19346868 + Missense_Mutation SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr22:19346868G>A c.2225C>T c.(2224-2226)gCg>gTg p.A742V COAD 22 19348774 19348774 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr22:19348774C>T c.2071G>A c.(2071-2073)Gca>Aca p.A691T COAD 22 19349279 19349280 + Frame_Shift_Del DEL GA GA - TCGA-AA-A02Y-01A-43W-A096-10 TCGA-AA-A02Y-10A-01W-A096-10 g.chr22:19349279_19349280delGA c.1950_1951delTC c.(1948-1953)tctcgtfs p.R651fs COAD 22 19365444 19365444 + Missense_Mutation SNP G G A TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr22:19365444G>A c.1561C>T c.(1561-1563)Cct>Tct p.P521S COAD 22 19373106 19373106 + Missense_Mutation SNP T T C TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr22:19373106T>C c.1267A>G c.(1267-1269)Atg>Gtg p.M423V COAD 22 19373135 19373136 + In_Frame_Ins INS - - GCT TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr22:19373135_19373136insGCT c.1237_1238insAGC c.(1237-1239)ctg>cAGCtg p.412_413insQ COAD 22 19373157 19373157 + Nonsense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr22:19373157G>A c.1216C>T c.(1216-1218)Cga>Tga p.R406* COAD 22 19373190 19373190 + Missense_Mutation SNP C C T TCGA-D5-6541-01A-11D-1719-10 TCGA-D5-6541-10A-01D-1719-10 g.chr22:19373190C>T c.1183G>A c.(1183-1185)Gtc>Atc p.V395I COAD 22 19373220 19373220 + Missense_Mutation SNP T T C TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr22:19373220T>C c.1153A>G c.(1153-1155)Atc>Gtc p.I385V COAD 22 19376060 19376060 + Silent SNP C C T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr22:19376060C>T c.954G>A c.(952-954)cgG>cgA p.R318R COAD 22 19379725 19379725 + Missense_Mutation SNP T T G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr22:19379725T>G c.835A>C c.(835-837)Aaa>Caa p.K279Q COAD 22 19393347 19393347 + Missense_Mutation SNP T T C TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr22:19393347T>C c.359A>G c.(358-360)cAg>cGg p.Q120R COAD 22 19393399 19393399 + Missense_Mutation SNP T T C TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr22:19393399T>C c.307A>G c.(307-309)Atc>Gtc p.I103V COAD 22 19398255 19398255 + Silent SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr22:19398255G>A c.84C>T c.(82-84)ttC>ttT p.F28F COADREAD 22 19340888 19340888 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr22:19340888C>T c.2839G>A c.(2839-2841)Gta>Ata p.V947I COADREAD 22 19344545 19344545 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr22:19344545C>T c.2264G>A c.(2263-2265)aGg>aAg p.R755K COADREAD 22 19346868 19346868 + Missense_Mutation SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr22:19346868G>A c.2225C>T c.(2224-2226)gCg>gTg p.A742V COADREAD 22 19348774 19348774 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr22:19348774C>T c.2071G>A c.(2071-2073)Gca>Aca p.A691T COADREAD 22 19349279 19349280 + Frame_Shift_Del DEL GA GA - TCGA-AA-A02Y-01A-43W-A096-10 TCGA-AA-A02Y-10A-01W-A096-10 g.chr22:19349279_19349280delGA c.1950_1951delTC c.(1948-1953)tctcgtfs p.R651fs COADREAD 22 19363215 19363215 + Missense_Mutation SNP G G A TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chr22:19363215G>A c.1714C>T c.(1714-1716)Cgg>Tgg p.R572W COADREAD 22 19365444 19365444 + Missense_Mutation SNP G G A TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr22:19365444G>A c.1561C>T c.(1561-1563)Cct>Tct p.P521S COADREAD 22 19373106 19373106 + Missense_Mutation SNP T T C TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr22:19373106T>C c.1267A>G c.(1267-1269)Atg>Gtg p.M423V COADREAD 22 19373135 19373136 + In_Frame_Ins INS - - GCT TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr22:19373135_19373136insGCT c.1237_1238insAGC c.(1237-1239)ctg>cAGCtg p.412_413insQ COADREAD 22 19373157 19373157 + Nonsense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr22:19373157G>A c.1216C>T c.(1216-1218)Cga>Tga p.R406* COADREAD 22 19373190 19373190 + Missense_Mutation SNP C C T TCGA-D5-6541-01A-11D-1719-10 TCGA-D5-6541-10A-01D-1719-10 g.chr22:19373190C>T c.1183G>A c.(1183-1185)Gtc>Atc p.V395I COADREAD 22 19373220 19373220 + Missense_Mutation SNP T T C TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr22:19373220T>C c.1153A>G c.(1153-1155)Atc>Gtc p.I385V COADREAD 22 19376060 19376060 + Silent SNP C C T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr22:19376060C>T c.954G>A c.(952-954)cgG>cgA p.R318R COADREAD 22 19379725 19379725 + Missense_Mutation SNP T T G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr22:19379725T>G c.835A>C c.(835-837)Aaa>Caa p.K279Q COADREAD 22 19393347 19393347 + Missense_Mutation SNP T T C TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr22:19393347T>C c.359A>G c.(358-360)cAg>cGg p.Q120R COADREAD 22 19393399 19393399 + Missense_Mutation SNP T T C TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr22:19393399T>C c.307A>G c.(307-309)Atc>Gtc p.I103V COADREAD 22 19398255 19398255 + Silent SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr22:19398255G>A c.84C>T c.(82-84)ttC>ttT p.F28F DLBC 22 19340928 19340928 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr22:19340928G>A c.2799C>T c.(2797-2799)caC>caT p.H933H DLBC 22 19385570 19385570 + Silent SNP T T C TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr22:19385570T>C c.438A>G c.(436-438)ctA>ctG p.L146L ESCA 22 19365551 19365551 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 g.chr22:19365551G>A c.1454C>T c.(1453-1455)tCg>tTg p.S485L ESCA 22 19373136 19373138 + In_Frame_Del DEL GCT GCT - TCGA-L5-A88Z-01A-11D-A36J-09 TCGA-L5-A88Z-11A-11D-A36M-09 g.chr22:19373136_19373138delGCT c.1235_1237delAGC c.(1234-1239)cagctg>ctg p.Q412del ESCA 22 19384325 19384325 + Silent SNP G G T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 g.chr22:19384325G>T c.639C>A c.(637-639)acC>acA p.T213T GBM 22 19318996 19318996 + Silent SNP A A G TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 g.chr22:19318996A>G c.3021T>C c.(3019-3021)tgT>tgC p.C1007C GBM 22 19365576 19365576 + Missense_Mutation SNP C C T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 g.chr22:19365576C>T c.1429G>A c.(1429-1431)Gca>Aca p.A477T GBM 22 19398254 19398254 + Missense_Mutation SNP C C T TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr22:19398254C>T c.85G>A c.(85-87)Gca>Aca p.A29T GBMLGG 22 19318996 19318996 + Silent SNP A A G TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 g.chr22:19318996A>G c.3021T>C c.(3019-3021)tgT>tgC p.C1007C GBMLGG 22 19319035 19319035 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:19319035G>A c.2982C>T c.(2980-2982)atC>atT p.I994I GBMLGG 22 19365445 19365445 + Missense_Mutation SNP C C G TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 g.chr22:19365445C>G c.1560G>C c.(1558-1560)gaG>gaC p.E520D GBMLGG 22 19365463 19365463 + Silent SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:19365463G>T c.1542C>A c.(1540-1542)gcC>gcA p.A514A GBMLGG 22 19365576 19365576 + Missense_Mutation SNP C C T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 g.chr22:19365576C>T c.1429G>A c.(1429-1431)Gca>Aca p.A477T GBMLGG 22 19381928 19381928 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:19381928G>A c.759C>T c.(757-759)atC>atT p.I253I GBMLGG 22 19381985 19381985 + Silent SNP C C A TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 g.chr22:19381985C>A c.702G>T c.(700-702)ggG>ggT p.G234G GBMLGG 22 19384429 19384429 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:19384429C>A c.535G>T c.(535-537)Ggg>Tgg p.G179W GBMLGG 22 19385612 19385612 + Splice_Site SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:19385612T>C c.e6-2 GBMLGG 22 19398254 19398254 + Missense_Mutation SNP C C T TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr22:19398254C>T c.85G>A c.(85-87)Gca>Aca p.A29T HNSC 22 19340889 19340889 + Silent SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 g.chr22:19340889G>A c.2838C>T c.(2836-2838)ctC>ctT p.L946L HNSC 22 19343784 19343784 + Silent SNP C C T TCGA-P3-A6T4-01A-11D-A34J-08 TCGA-P3-A6T4-10A-01D-A34M-08 g.chr22:19343784C>T c.2424G>A c.(2422-2424)gtG>gtA p.V808V HNSC 22 19343812 19343812 + Splice_Site SNP C C G TCGA-P3-A6T4-01A-11D-A34J-08 TCGA-P3-A6T4-10A-01D-A34M-08 g.chr22:19343812C>G c.e20-1 HNSC 22 19344526 19344526 + Silent SNP G G T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 g.chr22:19344526G>T c.2283C>A c.(2281-2283)tcC>tcA p.S761S HNSC 22 19344534 19344534 + Missense_Mutation SNP C C G TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr22:19344534C>G c.2275G>C c.(2275-2277)Gtg>Ctg p.V759L HNSC 22 19346902 19346902 + Missense_Mutation SNP C C T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 g.chr22:19346902C>T c.2191G>A c.(2191-2193)Gag>Aag p.E731K HNSC 22 19349267 19349267 + Missense_Mutation SNP C C A TCGA-C9-A47Z-01A-11D-A24D-08 TCGA-C9-A47Z-10A-01D-A24F-08 g.chr22:19349267C>A c.1963G>T c.(1963-1965)Gtg>Ttg p.V655L HNSC 22 19363199 19363199 + Missense_Mutation SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 g.chr22:19363199G>A c.1730C>T c.(1729-1731)cCa>cTa p.P577L HNSC 22 19363264 19363264 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr22:19363264G>A c.1665C>T c.(1663-1665)acC>acT p.T555T HNSC 22 19373150 19373150 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr22:19373150T>C c.1223A>G c.(1222-1224)cAg>cGg p.Q408R HNSC 22 19384358 19384358 + Silent SNP C C T TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 g.chr22:19384358C>T c.606G>A c.(604-606)agG>agA p.R202R HNSC 22 19384466 19384466 + Silent SNP A A T TCGA-UF-A71B-01A-12D-A34J-08 TCGA-UF-A71B-10B-01D-A34M-08 g.chr22:19384466A>T c.498T>A c.(496-498)atT>atA p.I166I HNSC 22 19393354 19393354 + Missense_Mutation SNP C C T TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 g.chr22:19393354C>T c.352G>A c.(352-354)Gtg>Atg p.V118M HNSC 22 19398284 19398284 + Missense_Mutation SNP C C T TCGA-HD-7229-01A-11D-2012-08 TCGA-HD-7229-10A-01D-2013-08 g.chr22:19398284C>T c.55G>A c.(55-57)Gtt>Att p.V19I KICH 22 19363305 19363305 + Missense_Mutation SNP T T C TCGA-KO-8408-01A-11D-2310-10 TCGA-KO-8408-11A-01D-2311-10 g.chr22:19363305T>C c.1624A>G c.(1624-1626)Acc>Gcc p.T542A KIPAN 22 19344494 19344495 + Frame_Shift_Ins INS - - C TCGA-SX-A7SQ-01A-12D-A35Z-10 TCGA-SX-A7SQ-10A-01D-A35Z-10 g.chr22:19344494_19344495insC c.2314_2315insG c.(2314-2316)ctcfs p.L772fs KIPAN 22 19344495 19344496 + Frame_Shift_Ins INS - - AT TCGA-SX-A7SQ-01A-12D-A35Z-10 TCGA-SX-A7SQ-10A-01D-A35Z-10 g.chr22:19344495_19344496insAT c.2313_2314insAT c.(2311-2316)atcctcfs p.L772fs KIPAN 22 19363305 19363305 + Missense_Mutation SNP T T C TCGA-KO-8408-01A-11D-2310-10 TCGA-KO-8408-11A-01D-2311-10 g.chr22:19363305T>C c.1624A>G c.(1624-1626)Acc>Gcc p.T542A KIPAN 22 19393327 19393327 + Missense_Mutation SNP G G T TCGA-DW-7838-01A-11D-2136-08 TCGA-DW-7838-10A-01D-2136-08 g.chr22:19393327G>T c.379C>A c.(379-381)Ctc>Atc p.L127I KIRP 22 19344494 19344495 + Frame_Shift_Ins INS - - C TCGA-SX-A7SQ-01A-12D-A35Z-10 TCGA-SX-A7SQ-10A-01D-A35Z-10 g.chr22:19344494_19344495insC c.2314_2315insG c.(2314-2316)ctcfs p.L772fs KIRP 22 19344495 19344496 + Frame_Shift_Ins INS - - AT TCGA-SX-A7SQ-01A-12D-A35Z-10 TCGA-SX-A7SQ-10A-01D-A35Z-10 g.chr22:19344495_19344496insAT c.2313_2314insAT c.(2311-2316)atcctcfs p.L772fs KIRP 22 19393327 19393327 + Missense_Mutation SNP G G T TCGA-DW-7838-01A-11D-2136-08 TCGA-DW-7838-10A-01D-2136-08 g.chr22:19393327G>T c.379C>A c.(379-381)Ctc>Atc p.L127I LGG 22 19319035 19319035 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:19319035G>A c.2982C>T c.(2980-2982)atC>atT p.I994I LGG 22 19365445 19365445 + Missense_Mutation SNP C C G TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 g.chr22:19365445C>G c.1560G>C c.(1558-1560)gaG>gaC p.E520D LGG 22 19365463 19365463 + Silent SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:19365463G>T c.1542C>A c.(1540-1542)gcC>gcA p.A514A LGG 22 19381928 19381928 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:19381928G>A c.759C>T c.(757-759)atC>atT p.I253I LGG 22 19381985 19381985 + Silent SNP C C A TCGA-TM-A7CF-01A-11D-A32B-08 TCGA-TM-A7CF-10A-01D-A329-08 g.chr22:19381985C>A c.702G>T c.(700-702)ggG>ggT p.G234G LGG 22 19384429 19384429 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:19384429C>A c.535G>T c.(535-537)Ggg>Tgg p.G179W LGG 22 19385612 19385612 + Splice_Site SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:19385612T>C c.e6-2 LIHC 22 19344473 19344473 + Missense_Mutation SNP G G A TCGA-WQ-A9G7-01A-11D-A36X-10 TCGA-WQ-A9G7-10A-01D-A370-10 g.chr22:19344473G>A c.2336C>T c.(2335-2337)aCt>aTt p.T779I LIHC 22 19346949 19346949 + Frame_Shift_Del DEL C C - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr22:19346949delC c.2144delG c.(2143-2145)ggcfs p.G715fs LIHC 22 19346949 19346949 + Frame_Shift_Del DEL C C - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr22:19346949delC c.2144delG c.(2143-2145)ggcfs p.G715fs LIHC 22 19373215 19373215 + Missense_Mutation SNP C C T TCGA-DD-AACJ-01A-11D-A40R-10 TCGA-DD-AACJ-10A-01D-A40U-10 g.chr22:19373215C>T c.1158G>A c.(1156-1158)atG>atA p.M386I LIHC 22 19376069 19376069 + Silent SNP A A G TCGA-DD-A116-01A-11D-A12Z-10 TCGA-DD-A116-10A-01D-A12Z-10 g.chr22:19376069A>G c.945T>C c.(943-945)tgT>tgC p.C315C LUAD 22 19318997 19318997 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chr22:19318997C>A c.3020G>T c.(3019-3021)tGt>tTt p.C1007F LUAD 22 19343313 19343313 + Missense_Mutation SNP G G A TCGA-55-7995-01A-11D-2184-08 TCGA-55-7995-10A-01D-2184-08 g.chr22:19343313G>A c.2531C>T c.(2530-2532)gCg>gTg p.A844V LUAD 22 19365417 19365417 + Missense_Mutation SNP C C G TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 g.chr22:19365417C>G c.1588G>C c.(1588-1590)Gca>Cca p.A530P LUAD 22 19365548 19365548 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 g.chr22:19365548C>A c.1457G>T c.(1456-1458)gGc>gTc p.G486V LUAD 22 19365549 19365549 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 g.chr22:19365549C>A c.1456G>T c.(1456-1458)Ggc>Tgc p.G486C LUAD 22 19376021 19376021 + Missense_Mutation SNP G G C TCGA-MP-A4TI-01A-21D-A24P-08 TCGA-MP-A4TI-10A-01D-A24P-08 g.chr22:19376021G>C c.993C>G c.(991-993)atC>atG p.I331M LUAD 22 19376025 19376025 + Missense_Mutation SNP G G C TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr22:19376025G>C c.989C>G c.(988-990)tCc>tGc p.S330C LUAD 22 19379649 19379649 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr22:19379649C>A c.911G>T c.(910-912)aGc>aTc p.S304I LUAD 22 19382003 19382003 + Silent SNP G G A TCGA-55-8092-01A-11D-2238-08 TCGA-55-8092-10A-01D-2238-08 g.chr22:19382003G>A c.684C>T c.(682-684)ctC>ctT p.L228L LUAD 22 19398295 19398295 + Missense_Mutation SNP G G A TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 g.chr22:19398295G>A c.44C>T c.(43-45)cCg>cTg p.P15L LUSC 22 19371175 19371175 + Silent SNP G G T TCGA-18-4721-01A-01D-1441-08 TCGA-18-4721-11A-01D-1441-08 g.chr22:19371175G>T c.1383C>A c.(1381-1383)atC>atA p.I461I LUSC 22 19371184 19371184 + Silent SNP C C T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr22:19371184C>T c.1374G>A c.(1372-1374)cgG>cgA p.R458R LUSC 22 19384325 19384325 + Silent SNP G G C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr22:19384325G>C c.639C>G c.(637-639)acC>acG p.T213T LUSC 22 19384447 19384447 + Missense_Mutation SNP G G A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 g.chr22:19384447G>A c.517C>T c.(517-519)Cat>Tat p.H173Y LUSC 22 19384472 19384472 + Splice_Site SNP T T C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 g.chr22:19384472T>C c.e7-2 LUSC 22 19394780 19394780 + Missense_Mutation SNP G G A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 g.chr22:19394780G>A c.229C>T c.(229-231)Cgg>Tgg p.R77W OV 22 19341597 19341597 + Missense_Mutation SNP T T A TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 g.chr22:19341597T>A c.2606A>T c.(2605-2607)gAc>gTc p.D869V OV 22 19373104 19373104 + Missense_Mutation SNP C C G TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 g.chr22:19373104C>G c.1269G>C c.(1267-1269)atG>atC p.M423I OV 22 19396100 19396100 + Silent SNP C C T TCGA-04-1353-01A-01D-1526-09 TCGA-04-1353-11B-01D-1526-09 g.chr22:19396100C>T c.117G>A c.(115-117)aaG>aaA p.K39K PAAD 22 19365576 19365576 + Missense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 g.chr22:19365576C>T c.1429G>A c.(1429-1431)Gca>Aca p.A477T PAAD 22 19373136 19373138 + In_Frame_Del DEL GCT GCT - TCGA-LB-A7SX-01A-11D-A33T-08 TCGA-LB-A7SX-10A-01D-A33W-08 g.chr22:19373136_19373138delGCT c.1235_1237delAGC c.(1234-1239)cagctg>ctg p.Q412del PAAD 22 19373136 19373138 + In_Frame_Del DEL GCT GCT - TCGA-US-A77E-01A-11D-A32N-08 TCGA-US-A77E-11A-11D-A32N-08 g.chr22:19373136_19373138delGCT c.1235_1237delAGC c.(1234-1239)cagctg>ctg p.Q412del PAAD 22 19373136 19373138 + In_Frame_Del DEL GCT GCT - TCGA-US-A77J-01A-11D-A32N-08 TCGA-US-A77J-11A-11D-A32N-08 g.chr22:19373136_19373138delGCT c.1235_1237delAGC c.(1234-1239)cagctg>ctg p.Q412del PAAD 22 19373136 19373138 + In_Frame_Del DEL GCT GCT - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 g.chr22:19373136_19373138delGCT c.1235_1237delAGC c.(1234-1239)cagctg>ctg p.Q412del PRAD 22 19365430 19365430 + Frame_Shift_Del DEL G G - TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 g.chr22:19365430delG c.1575delC c.(1573-1575)gccfs p.A525fs READ 22 19340888 19340888 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr22:19340888C>T c.2839G>A c.(2839-2841)Gta>Ata p.V947I READ 22 19363215 19363215 + Missense_Mutation SNP G G A TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chr22:19363215G>A c.1714C>T c.(1714-1716)Cgg>Tgg p.R572W SARC 22 19384361 19384361 + Missense_Mutation SNP C C G TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 g.chr22:19384361C>G c.603G>C c.(601-603)tgG>tgC p.W201C SKCM 22 19319022 19319022 + Nonsense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr22:19319022G>A c.2995C>T c.(2995-2997)Cga>Tga p.R999* SKCM 22 19319035 19319035 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr22:19319035G>A c.2982C>T c.(2980-2982)atC>atT p.I994I SKCM 22 19341013 19341013 + Missense_Mutation SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr22:19341013G>A c.2714C>T c.(2713-2715)tCc>tTc p.S905F SKCM 22 19344421 19344421 + Silent SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr22:19344421G>A c.2388C>T c.(2386-2388)ctC>ctT p.L796L SKCM 22 19346879 19346879 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr22:19346879G>A c.2214C>T c.(2212-2214)atC>atT p.I738I SKCM 22 19346936 19346936 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr22:19346936G>A c.2157C>T c.(2155-2157)agC>agT p.S719S SKCM 22 19348763 19348763 + Silent SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr22:19348763G>A c.2082C>T c.(2080-2082)ctC>ctT p.L694L SKCM 22 19348765 19348765 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr22:19348765G>A c.2080C>T c.(2080-2082)Ctc>Ttc p.L694F SKCM 22 19349263 19349263 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr22:19349263G>A c.1967C>T c.(1966-1968)tCt>tTt p.S656F SKCM 22 19363311 19363311 + Missense_Mutation SNP T T C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr22:19363311T>C c.1618A>G c.(1618-1620)Aat>Gat p.N540D SKCM 22 19371175 19371175 + Silent SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr22:19371175G>A c.1383C>T c.(1381-1383)atC>atT p.I461I SKCM 22 19373209 19373209 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr22:19373209C>T c.1164G>A c.(1162-1164)gaG>gaA p.E388E SKCM 22 19375254 19375254 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr22:19375254G>A c.1093C>T c.(1093-1095)Ccc>Tcc p.P365S SKCM 22 19375274 19375274 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr22:19375274G>A c.1073C>T c.(1072-1074)tCc>tTc p.S358F SKCM 22 19384447 19384447 + Missense_Mutation SNP G G A TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr22:19384447G>A c.517C>T c.(517-519)Cat>Tat p.H173Y SKCM 22 19384456 19384456 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr22:19384456G>A c.508C>T c.(508-510)Ctg>Ttg p.L170L SKCM 22 19385519 19385519 + Silent SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr22:19385519G>A c.489C>T c.(487-489)ttC>ttT p.F163F SKCM 22 19393350 19393350 + Missense_Mutation SNP T T C TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr22:19393350T>C c.356A>G c.(355-357)gAg>gGg p.E119G SKCM 22 19396038 19396038 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr22:19396038G>A c.179C>T c.(178-180)cCc>cTc p.P60L SKCM 22 19396072 19396072 + Missense_Mutation SNP G G A TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr22:19396072G>A c.145C>T c.(145-147)Ctc>Ttc p.L49F

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 19371224 19371224 single base substitution A C missense_variant L401R 1202T>G BLCA-CN 22 19371224 19371224 single base substitution A C missense_variant L445R 1334T>G BLCA-CN 22 19373167 19373167 single base substitution G C synonymous_variant L358L 1074C>G BLCA-CN 22 19373167 19373167 single base substitution G C synonymous_variant L402L 1206C>G BLCA-US 22 19384471 19384471 single base substitution C T downstream_gene_variant BLCA-US 22 19384471 19384471 single base substitution C T splice_acceptor_variant BLCA-US 22 19393309 19393309 single base substitution C T missense_variant D133N 397G>A BLCA-US 22 19393309 19393309 single base substitution C T missense_variant D89N 265G>A BLCA-US 22 19393309 19393309 single base substitution C T splice_region_variant BLCA-US 22 19418988 19418988 single base substitution C T intron_variant BLCA-US 22 19418988 19418988 single base substitution C T synonymous_variant L4L 12G>A BLCA-US 22 19418988 19418988 single base substitution C T upstream_gene_variant BLCA-US 22 19422269 19422269 single base substitution C T intron_variant BLCA-US 22 19422269 19422269 single base substitution C T upstream_gene_variant BLCA-US 22 19423455 19423455 single base substitution G C intron_variant BLCA-US 22 19423455 19423455 single base substitution G C upstream_gene_variant BOCA-FR 22 19342198 19342198 single base substitution A G intron_variant BOCA-FR 22 19383076 19383076 single base substitution G A downstream_gene_variant BOCA-FR 22 19383076 19383076 single base substitution G A intron_variant BRCA-EU 22 19313927 19313927 single base substitution C A downstream_gene_variant BRCA-EU 22 19313992 19313992 single base substitution C T downstream_gene_variant BRCA-EU 22 19314206 19314206 single base substitution C A downstream_gene_variant BRCA-EU 22 19314696 19314696 single base substitution C A downstream_gene_variant BRCA-EU 22 19315034 19315034 single base substitution C G downstream_gene_variant BRCA-EU 22 19315136 19315136 single base substitution T G downstream_gene_variant BRCA-EU 22 19315153 19315153 single base substitution C G downstream_gene_variant BRCA-EU 22 19315244 19315244 single base substitution C T downstream_gene_variant BRCA-EU 22 19315330 19315330 single base substitution C G downstream_gene_variant BRCA-EU 22 19315347 19315347 single base substitution G A downstream_gene_variant BRCA-EU 22 19316080 19316080 single base substitution G A downstream_gene_variant BRCA-EU 22 19317407 19317407 single base substitution A C downstream_gene_variant BRCA-EU 22 19318598 19318598 single base substitution A G 3_prime_UTR_variant BRCA-EU 22 19318714 19318714 single base substitution G A 3_prime_UTR_variant BRCA-EU 22 19319689 19319689 single base substitution G T intron_variant BRCA-EU 22 19320345 19320345 insertion of <=200bp - T intron_variant BRCA-EU 22 19321321 19321321 single base substitution C T intron_variant BRCA-EU 22 19321839 19321839 single base substitution G C intron_variant BRCA-EU 22 19322486 19322486 single base substitution C G intron_variant BRCA-EU 22 19322780 19322780 single base substitution T G intron_variant BRCA-EU 22 19323614 19323614 deletion of <=200bp A - intron_variant BRCA-EU 22 19324906 19324906 single base substitution C T intron_variant BRCA-EU 22 19325465 19325465 single base substitution C G intron_variant BRCA-EU 22 19325538 19325538 single base substitution C T intron_variant BRCA-EU 22 19327248 19327248 single base substitution C G intron_variant BRCA-EU 22 19327251 19327251 single base substitution G C intron_variant BRCA-EU 22 19327344 19327344 single base substitution G T intron_variant BRCA-EU 22 19327345 19327345 insertion of <=200bp - T intron_variant BRCA-EU 22 19328576 19328576 single base substitution C T intron_variant BRCA-EU 22 19328793 19328793 single base substitution G A intron_variant BRCA-EU 22 19329399 19329399 single base substitution T C intron_variant BRCA-EU 22 19330740 19330740 single base substitution C A intron_variant BRCA-EU 22 19330925 19330925 single base substitution A G intron_variant BRCA-EU 22 19331319 19331319 single base substitution G A intron_variant BRCA-EU 22 19331351 19331351 single base substitution G C intron_variant BRCA-EU 22 19331410 19331410 insertion of <=200bp - G intron_variant BRCA-EU 22 19333055 19333055 insertion of <=200bp - T intron_variant BRCA-EU 22 19334342 19334342 single base substitution C T downstream_gene_variant BRCA-EU 22 19334342 19334342 single base substitution C T intron_variant BRCA-EU 22 19337789 19337789 single base substitution C A downstream_gene_variant BRCA-EU 22 19337789 19337789 single base substitution C A intron_variant BRCA-EU 22 19338177 19338177 single base substitution C G downstream_gene_variant BRCA-EU 22 19338177 19338177 single base substitution C G intron_variant BRCA-EU 22 19338569 19338569 single base substitution C T downstream_gene_variant BRCA-EU 22 19338569 19338569 single base substitution C T intron_variant BRCA-EU 22 19339185 19339185 single base substitution C T intron_variant BRCA-EU 22 19340006 19340006 single base substitution T C intron_variant BRCA-EU 22 19340633 19340633 single base substitution T C intron_variant BRCA-EU 22 19341568 19341568 single base substitution C T missense_variant A672T 2014G>A BRCA-EU 22 19341568 19341568 single base substitution C T missense_variant A835T 2503G>A BRCA-EU 22 19341568 19341568 single base substitution C T missense_variant A879T 2635G>A BRCA-EU 22 19341568 19341568 single base substitution C T synonymous_variant T799T 2397G>A BRCA-EU 22 19342482 19342482 single base substitution G A intron_variant BRCA-EU 22 19343424 19343424 single base substitution C T intron_variant BRCA-EU 22 19343701 19343701 single base substitution G C intron_variant BRCA-EU 22 19345953 19345953 single base substitution G A intron_variant BRCA-EU 22 19346143 19346143 single base substitution C G intron_variant BRCA-EU 22 19349758 19349758 deletion of <=200bp A - intron_variant BRCA-EU 22 19349950 19349950 single base substitution G A intron_variant BRCA-EU 22 19350460 19350460 deletion of <=200bp A - intron_variant BRCA-EU 22 19356354 19356354 deletion of <=200bp C - intron_variant BRCA-EU 22 19356935 19356935 single base substitution A G intron_variant BRCA-EU 22 19358962 19358962 insertion of <=200bp - T intron_variant BRCA-EU 22 19359731 19359731 single base substitution A C intron_variant BRCA-EU 22 19360495 19360495 single base substitution C G intron_variant BRCA-EU 22 19361421 19361421 single base substitution G A intron_variant BRCA-EU 22 19361603 19361603 single base substitution C G intron_variant BRCA-EU 22 19362157 19362157 single base substitution C T intron_variant BRCA-EU 22 19362431 19362431 single base substitution C T intron_variant BRCA-EU 22 19362887 19362887 single base substitution C G intron_variant BRCA-EU 22 19363326 19363326 single base substitution G T intron_variant BRCA-EU 22 19364480 19364480 single base substitution G A intron_variant BRCA-EU 22 19365935 19365935 single base substitution C T intron_variant BRCA-EU 22 19366462 19366462 single base substitution T C intron_variant BRCA-EU 22 19367517 19367517 single base substitution G C intron_variant BRCA-EU 22 19369118 19369118 single base substitution T G intron_variant BRCA-EU 22 19369394 19369394 single base substitution G C intron_variant BRCA-EU 22 19370208 19370208 single base substitution T C intron_variant BRCA-EU 22 19372186 19372186 single base substitution T C intron_variant BRCA-EU 22 19372642 19372642 single base substitution C T intron_variant BRCA-EU 22 19375496 19375496 deletion of <=200bp G - intron_variant BRCA-EU 22 19377887 19377887 single base substitution G A intron_variant BRCA-EU 22 19378032 19378032 single base substitution C A intron_variant BRCA-EU 22 19378323 19378323 single base substitution G C intron_variant BRCA-EU 22 19379247 19379247 single base substitution C A intron_variant BRCA-EU 22 19379888 19379888 single base substitution G T intron_variant BRCA-EU 22 19380429 19380429 single base substitution G T intron_variant BRCA-EU 22 19381409 19381409 single base substitution G T downstream_gene_variant BRCA-EU 22 19381409 19381409 single base substitution G T intron_variant BRCA-EU 22 19381751 19381751 single base substitution T G downstream_gene_variant BRCA-EU 22 19381751 19381751 single base substitution T G intron_variant BRCA-EU 22 19381993 19381993 single base substitution G A downstream_gene_variant BRCA-EU 22 19381993 19381993 single base substitution G A missense_variant P188S 562C>T BRCA-EU 22 19381993 19381993 single base substitution G A missense_variant P232S 694C>T BRCA-EU 22 19382187 19382187 single base substitution G A downstream_gene_variant BRCA-EU 22 19382187 19382187 single base substitution G A intron_variant BRCA-EU 22 19383178 19383178 single base substitution C G downstream_gene_variant BRCA-EU 22 19383178 19383178 single base substitution C G intron_variant BRCA-EU 22 19384823 19384823 single base substitution C T downstream_gene_variant BRCA-EU 22 19384823 19384823 single base substitution C T intron_variant BRCA-EU 22 19386316 19386316 single base substitution A G intron_variant BRCA-EU 22 19386327 19386327 single base substitution C G intron_variant BRCA-EU 22 19387919 19387919 single base substitution G A intron_variant BRCA-EU 22 19388855 19388855 single base substitution G C intron_variant BRCA-EU 22 19389042 19389042 single base substitution C G intron_variant BRCA-EU 22 19389501 19389501 single base substitution C A intron_variant BRCA-EU 22 19390783 19390783 single base substitution T C intron_variant BRCA-EU 22 19391965 19391965 single base substitution G C intron_variant BRCA-EU 22 19395160 19395160 deletion of <=200bp A - intron_variant BRCA-EU 22 19396153 19396153 single base substitution G A intron_variant BRCA-EU 22 19396303 19396303 single base substitution C T intron_variant BRCA-EU 22 19397454 19397454 single base substitution C A intron_variant BRCA-EU 22 19399219 19399219 single base substitution G A intron_variant BRCA-EU 22 19399467 19399467 single base substitution C G intron_variant BRCA-EU 22 19402400 19402422 deletion of <=200bp ACTGTCTCAAGAAACAAAACAAA - intron_variant BRCA-EU 22 19403677 19403677 single base substitution G C intron_variant BRCA-EU 22 19404379 19404379 single base substitution C T intron_variant BRCA-EU 22 19404678 19404678 single base substitution G A intron_variant BRCA-EU 22 19405148 19405148 single base substitution A T intron_variant BRCA-EU 22 19405655 19405655 single base substitution G C intron_variant BRCA-EU 22 19406308 19406308 single base substitution A G intron_variant BRCA-EU 22 19406684 19406684 single base substitution G C intron_variant BRCA-EU 22 19407871 19407871 single base substitution C T intron_variant BRCA-EU 22 19408392 19408392 single base substitution C A intron_variant BRCA-EU 22 19410928 19410928 single base substitution C A intron_variant BRCA-EU 22 19415275 19415275 single base substitution T C intron_variant BRCA-EU 22 19415691 19415691 single base substitution C G intron_variant BRCA-EU 22 19416533 19416533 single base substitution G C intron_variant BRCA-EU 22 19416836 19416836 deletion of <=200bp T - intron_variant BRCA-EU 22 19417387 19417387 single base substitution C T intron_variant BRCA-EU 22 19418036 19418036 single base substitution A C intron_variant BRCA-EU 22 19418036 19418036 single base substitution A C upstream_gene_variant BRCA-EU 22 19418298 19418298 single base substitution G A intron_variant BRCA-EU 22 19418298 19418298 single base substitution G A upstream_gene_variant BRCA-EU 22 19420275 19420275 single base substitution T C intron_variant BRCA-EU 22 19420275 19420275 single base substitution T C upstream_gene_variant BRCA-EU 22 19420634 19420634 single base substitution G C intron_variant BRCA-EU 22 19420634 19420634 single base substitution G C upstream_gene_variant BRCA-EU 22 19420854 19420854 single base substitution G A intron_variant BRCA-EU 22 19420854 19420854 single base substitution G A upstream_gene_variant BRCA-EU 22 19424127 19424127 single base substitution G T intron_variant BRCA-EU 22 19424127 19424127 single base substitution G T upstream_gene_variant BRCA-EU 22 19424278 19424278 single base substitution G C intron_variant BRCA-EU 22 19424345 19424345 insertion of <=200bp - A intron_variant BRCA-EU 22 19425451 19425451 single base substitution G C intron_variant BRCA-EU 22 19426327 19426327 single base substitution T A intron_variant BRCA-EU 22 19427209 19427209 single base substitution G C intron_variant BRCA-EU 22 19428628 19428628 single base substitution C G intron_variant BRCA-EU 22 19429416 19429416 single base substitution C G intron_variant BRCA-EU 22 19431188 19431188 single base substitution G C intron_variant BRCA-EU 22 19431909 19431909 single base substitution G C intron_variant BRCA-EU 22 19432609 19432609 single base substitution C G intron_variant BRCA-EU 22 19433813 19433813 deletion of <=200bp T - intron_variant BRCA-EU 22 19434108 19434108 single base substitution C G intron_variant BRCA-EU 22 19439754 19439754 single base substitution G C upstream_gene_variant BRCA-FR 22 19316080 19316080 single base substitution G A downstream_gene_variant BRCA-FR 22 19329399 19329399 single base substitution T C intron_variant BRCA-FR 22 19333526 19333526 single base substitution T A intron_variant BRCA-FR 22 19339185 19339185 single base substitution C T intron_variant BRCA-FR 22 19340683 19340683 single base substitution C G intron_variant BRCA-FR 22 19341568 19341568 single base substitution C T missense_variant A672T 2014G>A BRCA-FR 22 19341568 19341568 single base substitution C T missense_variant A835T 2503G>A BRCA-FR 22 19341568 19341568 single base substitution C T missense_variant A879T 2635G>A BRCA-FR 22 19341568 19341568 single base substitution C T synonymous_variant T799T 2397G>A BRCA-FR 22 19343424 19343424 single base substitution C T intron_variant BRCA-FR 22 19346019 19346019 single base substitution G C intron_variant BRCA-FR 22 19372681 19372681 single base substitution C G intron_variant BRCA-FR 22 19372762 19372762 single base substitution C G intron_variant BRCA-FR 22 19372804 19372804 single base substitution C T intron_variant BRCA-FR 22 19374921 19374921 single base substitution C T intron_variant BRCA-FR 22 19375142 19375142 single base substitution C G intron_variant BRCA-FR 22 19382842 19382842 single base substitution C T downstream_gene_variant BRCA-FR 22 19382842 19382842 single base substitution C T intron_variant BRCA-FR 22 19384626 19384626 single base substitution C T downstream_gene_variant BRCA-FR 22 19384626 19384626 single base substitution C T intron_variant BRCA-FR 22 19384628 19384628 single base substitution C A downstream_gene_variant BRCA-FR 22 19384628 19384628 single base substitution C A intron_variant BRCA-FR 22 19384693 19384693 single base substitution C T downstream_gene_variant BRCA-FR 22 19384693 19384693 single base substitution C T intron_variant BRCA-FR 22 19384709 19384709 single base substitution C G downstream_gene_variant BRCA-FR 22 19384709 19384709 single base substitution C G intron_variant BRCA-FR 22 19384816 19384816 single base substitution C G downstream_gene_variant BRCA-FR 22 19384816 19384816 single base substitution C G intron_variant BRCA-FR 22 19384914 19384914 single base substitution C G downstream_gene_variant BRCA-FR 22 19384914 19384914 single base substitution C G intron_variant BRCA-FR 22 19384921 19384921 single base substitution C G downstream_gene_variant BRCA-FR 22 19384921 19384921 single base substitution C G intron_variant BRCA-FR 22 19384977 19384977 single base substitution C G downstream_gene_variant BRCA-FR 22 19384977 19384977 single base substitution C G intron_variant BRCA-FR 22 19385086 19385086 single base substitution C G downstream_gene_variant BRCA-FR 22 19385086 19385086 single base substitution C G intron_variant BRCA-FR 22 19385090 19385090 single base substitution C A downstream_gene_variant BRCA-FR 22 19385090 19385090 single base substitution C A intron_variant BRCA-FR 22 19385266 19385266 single base substitution C G downstream_gene_variant BRCA-FR 22 19385266 19385266 single base substitution C G intron_variant BRCA-FR 22 19385313 19385313 single base substitution C G downstream_gene_variant BRCA-FR 22 19385313 19385313 single base substitution C G intron_variant BRCA-FR 22 19385340 19385340 single base substitution C G downstream_gene_variant BRCA-FR 22 19385340 19385340 single base substitution C G intron_variant BRCA-FR 22 19385419 19385419 single base substitution C G downstream_gene_variant BRCA-FR 22 19385419 19385419 single base substitution C G intron_variant BRCA-FR 22 19385459 19385459 single base substitution C G downstream_gene_variant BRCA-FR 22 19385459 19385459 single base substitution C G intron_variant BRCA-FR 22 19385494 19385494 single base substitution C G downstream_gene_variant BRCA-FR 22 19385494 19385494 single base substitution C G intron_variant BRCA-FR 22 19385554 19385554 single base substitution C G downstream_gene_variant BRCA-FR 22 19385554 19385554 single base substitution C G missense_variant D108H 322G>C BRCA-FR 22 19385554 19385554 single base substitution C G missense_variant D152H 454G>C BRCA-FR 22 19387104 19387104 single base substitution C T intron_variant BRCA-FR 22 19391115 19391115 single base substitution A G intron_variant BRCA-FR 22 19399219 19399219 single base substitution G A intron_variant BRCA-FR 22 19405655 19405655 single base substitution G C intron_variant BRCA-FR 22 19410928 19410928 single base substitution C A intron_variant BRCA-FR 22 19418036 19418036 single base substitution A C intron_variant BRCA-FR 22 19418036 19418036 single base substitution A C upstream_gene_variant BRCA-FR 22 19423631 19423631 single base substitution A T intron_variant BRCA-FR 22 19423631 19423631 single base substitution A T upstream_gene_variant BRCA-FR 22 19424127 19424127 single base substitution G T intron_variant BRCA-FR 22 19424127 19424127 single base substitution G T upstream_gene_variant BRCA-FR 22 19424278 19424278 single base substitution G C intron_variant BRCA-FR 22 19429661 19429661 single base substitution C G intron_variant BRCA-FR 22 19432609 19432609 single base substitution C G intron_variant BRCA-UK 22 19381927 19381927 single base substitution C A downstream_gene_variant BRCA-UK 22 19381927 19381927 single base substitution C A stop_gained E210* 628G>T BRCA-UK 22 19381927 19381927 single base substitution C A stop_gained E254* 760G>T BRCA-UK 22 19408392 19408392 single base substitution C A intron_variant BRCA-UK 22 19429416 19429416 single base substitution C G intron_variant BRCA-US 22 19338952 19338952 single base substitution G A 3_prime_UTR_variant BRCA-US 22 19338952 19338952 single base substitution G A stop_gained R749* 2245C>T BRCA-US 22 19338952 19338952 single base substitution G A stop_gained R912* 2734C>T BRCA-US 22 19338952 19338952 single base substitution G A stop_gained R956* 2866C>T BRCA-US 22 19344476 19344476 single base substitution G C intron_variant BRCA-US 22 19344476 19344476 single base substitution G C missense_variant S734C 2201C>G BRCA-US 22 19344476 19344476 single base substitution G C missense_variant S778C 2333C>G BRCA-US 22 19346930 19346930 single base substitution C T intron_variant BRCA-US 22 19346930 19346930 single base substitution C T synonymous_variant L677L 2031G>A BRCA-US 22 19346930 19346930 single base substitution C T synonymous_variant L721L 2163G>A BRCA-US 22 19348811 19348811 single base substitution T C intron_variant BRCA-US 22 19348811 19348811 single base substitution T C synonymous_variant A634A 1902A>G BRCA-US 22 19348811 19348811 single base substitution T C synonymous_variant A678A 2034A>G BRCA-US 22 19349295 19349295 single base substitution C T intron_variant BRCA-US 22 19349295 19349295 single base substitution C T synonymous_variant R601R 1803G>A BRCA-US 22 19349295 19349295 single base substitution C T synonymous_variant R645R 1935G>A BRCA-US 22 19349345 19349345 single base substitution G A intron_variant BRCA-US 22 19349345 19349345 single base substitution G A stop_gained R585* 1753C>T BRCA-US 22 19349345 19349345 single base substitution G A stop_gained R629* 1885C>T BRCA-US 22 19394707 19394707 single base substitution G A missense_variant T101M 302C>T BRCA-US 22 19394707 19394707 single base substitution G A missense_variant T57M 170C>T BRCA-US 22 19394707 19394707 single base substitution G A splice_region_variant BRCA-US 22 19396057 19396057 single base substitution C T 3_prime_UTR_variant BRCA-US 22 19396057 19396057 single base substitution C T exon_variant BRCA-US 22 19396057 19396057 single base substitution C T missense_variant E10K 28G>A BRCA-US 22 19396057 19396057 single base substitution C T missense_variant E54K 160G>A BRCA-US 22 19423260 19423260 single base substitution G C intron_variant BRCA-US 22 19423260 19423260 single base substitution G C upstream_gene_variant BTCA-JP 22 19341012 19341012 single base substitution G A 3_prime_UTR_variant BTCA-JP 22 19341012 19341012 single base substitution G A synonymous_variant S698S 2094C>T BTCA-JP 22 19341012 19341012 single base substitution G A synonymous_variant S861S 2583C>T BTCA-JP 22 19341012 19341012 single base substitution G A synonymous_variant S905S 2715C>T BTCA-JP 22 19341569 19341569 single base substitution G A missense_variant T799M 2396C>T BTCA-JP 22 19341569 19341569 single base substitution G A synonymous_variant D671D 2013C>T BTCA-JP 22 19341569 19341569 single base substitution G A synonymous_variant D834D 2502C>T BTCA-JP 22 19341569 19341569 single base substitution G A synonymous_variant D878D 2634C>T BTCA-JP 22 19348776 19348776 single base substitution C T intron_variant BTCA-JP 22 19348776 19348776 single base substitution C T missense_variant R646K 1937G>A BTCA-JP 22 19348776 19348776 single base substitution C T missense_variant R690K 2069G>A BTCA-JP 22 19365539 19365539 single base substitution G A missense_variant A445V 1334C>T BTCA-JP 22 19365539 19365539 single base substitution G A missense_variant A489V 1466C>T BTCA-JP 22 19371150 19371150 single base substitution C T missense_variant D426N 1276G>A BTCA-JP 22 19371150 19371150 single base substitution C T missense_variant D470N 1408G>A BTCA-JP 22 19381722 19381722 single base substitution G A downstream_gene_variant BTCA-JP 22 19381722 19381722 single base substitution G A intron_variant BTCA-JP 22 19434931 19434931 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 22 19434931 19434931 single base substitution G T exon_variant BTCA-JP 22 19434931 19434931 single base substitution G T intron_variant BTCA-JP 22 19435276 19435276 single base substitution G A upstream_gene_variant CESC-US 22 19349384 19349384 single base substitution C G intron_variant CESC-US 22 19349384 19349384 single base substitution C G missense_variant E572Q 1714G>C CESC-US 22 19349384 19349384 single base substitution C G missense_variant E616Q 1846G>C CESC-US 22 19373227 19373227 single base substitution G T missense_variant S338R 1014C>A CESC-US 22 19373227 19373227 single base substitution G T missense_variant S382R 1146C>A CESC-US 22 19423532 19423532 single base substitution G A intron_variant CESC-US 22 19423532 19423532 single base substitution G A upstream_gene_variant CLLE-ES 22 19328130 19328130 single base substitution C T intron_variant CLLE-ES 22 19366462 19366462 insertion of <=200bp - T intron_variant CLLE-ES 22 19383970 19383970 single base substitution C T downstream_gene_variant CLLE-ES 22 19383970 19383970 single base substitution C T intron_variant CLLE-ES 22 19390660 19390660 single base substitution T A intron_variant CLLE-ES 22 19391361 19391361 single base substitution C T intron_variant CLLE-ES 22 19392491 19392491 single base substitution G A intron_variant CLLE-ES 22 19408451 19408451 single base substitution A T intron_variant CLLE-ES 22 19421397 19421397 single base substitution T G intron_variant CLLE-ES 22 19421397 19421397 single base substitution T G upstream_gene_variant CLLE-ES 22 19434062 19434062 single base substitution G A intron_variant COAD-US 22 19344545 19344545 single base substitution C T intron_variant COAD-US 22 19344545 19344545 single base substitution C T missense_variant R711K 2132G>A COAD-US 22 19344545 19344545 single base substitution C T missense_variant R755K 2264G>A COAD-US 22 19346868 19346868 single base substitution G A intron_variant COAD-US 22 19346868 19346868 single base substitution G A missense_variant A698V 2093C>T COAD-US 22 19346868 19346868 single base substitution G A missense_variant A742V 2225C>T COAD-US 22 19348774 19348774 single base substitution C T intron_variant COAD-US 22 19348774 19348774 single base substitution C T missense_variant A647T 1939G>A COAD-US 22 19348774 19348774 single base substitution C T missense_variant A691T 2071G>A COAD-US 22 19373135 19373135 insertion of <=200bp - GCT disruptive_inframe_insertion L369LA COAD-US 22 19373135 19373135 insertion of <=200bp - GCT disruptive_inframe_insertion L413LA COAD-US 22 19373157 19373157 single base substitution G A stop_gained R362* 1084C>T COAD-US 22 19373157 19373157 single base substitution G A stop_gained R406* 1216C>T COAD-US 22 19373190 19373190 single base substitution C T missense_variant V351I 1051G>A COAD-US 22 19373190 19373190 single base substitution C T missense_variant V395I 1183G>A COAD-US 22 19376060 19376060 single base substitution C T synonymous_variant R274R 822G>A COAD-US 22 19376060 19376060 single base substitution C T synonymous_variant R318R 954G>A COAD-US 22 19379725 19379725 single base substitution T G missense_variant K235Q 703A>C COAD-US 22 19379725 19379725 single base substitution T G missense_variant K279Q 835A>C COAD-US 22 19393347 19393347 single base substitution T C 3_prime_UTR_variant COAD-US 22 19393347 19393347 single base substitution T C exon_variant COAD-US 22 19393347 19393347 single base substitution T C missense_variant Q120R 359A>G COAD-US 22 19393347 19393347 single base substitution T C missense_variant Q76R 227A>G COAD-US 22 19420109 19420109 single base substitution T C intron_variant COAD-US 22 19420109 19420109 single base substitution T C upstream_gene_variant COAD-US 22 19438247 19438247 single base substitution G A upstream_gene_variant COCA-CN 22 19338821 19338821 single base substitution A C downstream_gene_variant COCA-CN 22 19338821 19338821 single base substitution A C intron_variant COCA-CN 22 19365360 19365360 single base substitution A G intron_variant COCA-CN 22 19375883 19375883 single base substitution C T intron_variant COCA-CN 22 19381808 19381808 single base substitution G T downstream_gene_variant COCA-CN 22 19381808 19381808 single base substitution G T intron_variant COCA-CN 22 19393342 19393342 single base substitution G A 3_prime_UTR_variant COCA-CN 22 19393342 19393342 single base substitution G A exon_variant COCA-CN 22 19393342 19393342 single base substitution G A missense_variant R122W 364C>T COCA-CN 22 19393342 19393342 single base substitution G A missense_variant R78W 232C>T COCA-CN 22 19398165 19398165 single base substitution G A intron_variant COCA-CN 22 19398255 19398255 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 22 19398255 19398255 single base substitution G A exon_variant COCA-CN 22 19398255 19398255 single base substitution G A synonymous_variant F28F 84C>T COCA-CN 22 19402307 19402307 single base substitution A G intron_variant COCA-CN 22 19419106 19419106 single base substitution C T 5_prime_UTR_variant COCA-CN 22 19419106 19419106 single base substitution C T intron_variant COCA-CN 22 19419106 19419106 single base substitution C T upstream_gene_variant COCA-CN 22 19438373 19438373 single base substitution C A upstream_gene_variant EOPC-DE 22 19392950 19392950 single base substitution G A intron_variant ESAD-UK 22 19313426 19313426 single base substitution C T downstream_gene_variant ESAD-UK 22 19314394 19314394 single base substitution G A downstream_gene_variant ESAD-UK 22 19315501 19315501 single base substitution C T downstream_gene_variant ESAD-UK 22 19315570 19315570 single base substitution C T downstream_gene_variant ESAD-UK 22 19317829 19317829 single base substitution C T downstream_gene_variant ESAD-UK 22 19318870 19318870 single base substitution C A 3_prime_UTR_variant ESAD-UK 22 19321645 19321645 single base substitution C T intron_variant ESAD-UK 22 19322386 19322386 single base substitution A C intron_variant ESAD-UK 22 19322428 19322428 single base substitution G A intron_variant ESAD-UK 22 19322578 19322578 single base substitution G A intron_variant ESAD-UK 22 19325984 19325984 single base substitution T C intron_variant ESAD-UK 22 19327872 19327872 single base substitution G A intron_variant ESAD-UK 22 19331044 19331044 single base substitution C G intron_variant ESAD-UK 22 19332168 19332168 single base substitution A T intron_variant ESAD-UK 22 19333541 19333541 single base substitution G A intron_variant ESAD-UK 22 19334614 19334614 single base substitution C T downstream_gene_variant ESAD-UK 22 19334614 19334614 single base substitution C T intron_variant ESAD-UK 22 19338846 19338846 single base substitution A T downstream_gene_variant ESAD-UK 22 19338846 19338846 single base substitution A T intron_variant ESAD-UK 22 19340683 19340683 single base substitution C G intron_variant ESAD-UK 22 19343666 19343666 single base substitution C A intron_variant ESAD-UK 22 19354847 19354847 single base substitution G A intron_variant ESAD-UK 22 19356034 19356034 single base substitution T C intron_variant ESAD-UK 22 19356043 19356043 single base substitution A C intron_variant ESAD-UK 22 19361309 19361309 single base substitution G C intron_variant ESAD-UK 22 19362009 19362009 insertion of <=200bp - A intron_variant ESAD-UK 22 19364709 19364709 single base substitution C T intron_variant ESAD-UK 22 19365461 19365461 single base substitution G A missense_variant S471L 1412C>T ESAD-UK 22 19365461 19365461 single base substitution G A missense_variant S515L 1544C>T ESAD-UK 22 19371107 19371107 single base substitution G A intron_variant ESAD-UK 22 19371228 19371228 single base substitution T A missense_variant N400Y 1198A>T ESAD-UK 22 19371228 19371228 single base substitution T A missense_variant N444Y 1330A>T ESAD-UK 22 19372338 19372338 single base substitution G A intron_variant ESAD-UK 22 19377192 19377192 single base substitution G A intron_variant ESAD-UK 22 19378667 19378667 single base substitution G A intron_variant ESAD-UK 22 19384336 19384336 single base substitution T C downstream_gene_variant ESAD-UK 22 19384336 19384336 single base substitution T C missense_variant T166A 496A>G ESAD-UK 22 19384336 19384336 single base substitution T C missense_variant T210A 628A>G ESAD-UK 22 19391507 19391507 single base substitution G A intron_variant ESAD-UK 22 19393331 19393332 deletion of <=200bp AG - 3_prime_UTR_variant ESAD-UK 22 19393331 19393332 deletion of <=200bp AG - exon_variant ESAD-UK 22 19393331 19393332 deletion of <=200bp AG - frameshift_variant S125 ESAD-UK 22 19393331 19393332 deletion of <=200bp AG - frameshift_variant S81 ESAD-UK 22 19393538 19393538 single base substitution G T intron_variant ESAD-UK 22 19393832 19393843 deletion of <=200bp CTAAATTGTATA - intron_variant ESAD-UK 22 19395608 19395608 single base substitution T C intron_variant ESAD-UK 22 19397095 19397095 single base substitution C T intron_variant ESAD-UK 22 19398076 19398076 single base substitution T A intron_variant ESAD-UK 22 19406347 19406347 single base substitution G A intron_variant ESAD-UK 22 19408216 19408216 single base substitution C A intron_variant ESAD-UK 22 19411411 19411411 single base substitution G T intron_variant ESAD-UK 22 19411837 19411837 single base substitution G A intron_variant ESAD-UK 22 19413750 19413750 single base substitution G A intron_variant ESAD-UK 22 19417551 19417551 single base substitution G A intron_variant ESAD-UK 22 19419711 19419711 single base substitution G A intron_variant ESAD-UK 22 19419711 19419711 single base substitution G A upstream_gene_variant ESAD-UK 22 19419883 19419883 single base substitution C T intron_variant ESAD-UK 22 19419883 19419883 single base substitution C T upstream_gene_variant ESAD-UK 22 19420065 19420065 single base substitution G T intron_variant ESAD-UK 22 19420065 19420065 single base substitution G T upstream_gene_variant ESAD-UK 22 19426838 19426838 single base substitution C T intron_variant ESAD-UK 22 19427391 19427391 single base substitution T A intron_variant ESAD-UK 22 19427727 19427727 single base substitution C T intron_variant ESAD-UK 22 19428919 19428919 single base substitution A G intron_variant ESAD-UK 22 19432781 19432781 single base substitution G C intron_variant ESAD-UK 22 19436621 19436621 single base substitution G C upstream_gene_variant ESAD-UK 22 19438244 19438244 single base substitution G A upstream_gene_variant ESAD-UK 22 19438258 19438258 single base substitution C T upstream_gene_variant ESCA-CN 22 19344536 19344536 single base substitution G A intron_variant ESCA-CN 22 19344536 19344536 single base substitution G A missense_variant S714L 2141C>T ESCA-CN 22 19344536 19344536 single base substitution G A missense_variant S758L 2273C>T ESCA-CN 22 19375257 19375257 single base substitution C T missense_variant D320N 958G>A ESCA-CN 22 19375257 19375257 single base substitution C T missense_variant D364N 1090G>A ESCA-CN 22 19423249 19423249 single base substitution C T intron_variant ESCA-CN 22 19423249 19423249 single base substitution C T upstream_gene_variant ESCA-CN 22 19423493 19423493 single base substitution G A intron_variant ESCA-CN 22 19423493 19423493 single base substitution G A upstream_gene_variant ESCA-CN 22 19438362 19438362 single base substitution A G upstream_gene_variant GBM-US 22 19318996 19318996 single base substitution A G synonymous_variant C1007C 3021T>C GBM-US 22 19318996 19318996 single base substitution A G synonymous_variant C800C 2400T>C GBM-US 22 19318996 19318996 single base substitution A G synonymous_variant C963C 2889T>C GBM-US 22 19365576 19365576 single base substitution C T missense_variant A433T 1297G>A GBM-US 22 19365576 19365576 single base substitution C T missense_variant A477T 1429G>A GBM-US 22 19398254 19398254 single base substitution C T 5_prime_UTR_variant GBM-US 22 19398254 19398254 single base substitution C T exon_variant GBM-US 22 19398254 19398254 single base substitution C T missense_variant A29T 85G>A KIRP-US 22 19423455 19423455 single base substitution G T intron_variant KIRP-US 22 19423455 19423455 single base substitution G T upstream_gene_variant KIRP-US 22 19435297 19435299 deletion of <=200bp AGA - upstream_gene_variant LAML-KR 22 19341502 19341502 single base substitution G A intron_variant LAML-KR 22 19364432 19364432 single base substitution G C intron_variant LAML-KR 22 19375495 19375495 single base substitution C G intron_variant LAML-KR 22 19404565 19404565 single base substitution C A intron_variant LGG-US 22 19365445 19365445 single base substitution C G missense_variant E476D 1428G>C LGG-US 22 19365445 19365445 single base substitution C G missense_variant E520D 1560G>C LICA-CN 22 19348819 19348819 single base substitution C T intron_variant LICA-CN 22 19348819 19348819 single base substitution C T missense_variant A632T 1894G>A LICA-CN 22 19348819 19348819 single base substitution C T missense_variant A676T 2026G>A LICA-CN 22 19381939 19381939 single base substitution C T downstream_gene_variant LICA-CN 22 19381939 19381939 single base substitution C T missense_variant A206T 616G>A LICA-CN 22 19381939 19381939 single base substitution C T missense_variant A250T 748G>A LICA-FR 22 19314030 19314040 deletion of <=200bp TATGGGGTTTC - downstream_gene_variant LICA-FR 22 19320982 19320982 single base substitution T C intron_variant LICA-FR 22 19358430 19358430 deletion of <=200bp G - intron_variant LICA-FR 22 19367450 19367450 single base substitution G A intron_variant LICA-FR 22 19379769 19379769 single base substitution T C intron_variant LICA-FR 22 19382522 19382522 single base substitution T C downstream_gene_variant LICA-FR 22 19382522 19382522 single base substitution T C intron_variant LICA-FR 22 19385603 19385603 single base substitution C A 3_prime_UTR_variant LICA-FR 22 19385603 19385603 single base substitution C A exon_variant LICA-FR 22 19385603 19385603 single base substitution C A missense_variant M135I 405G>T LICA-FR 22 19385603 19385603 single base substitution C A missense_variant M91I 273G>T LICA-FR 22 19394726 19394726 single base substitution T C 3_prime_UTR_variant LICA-FR 22 19394726 19394726 single base substitution T C exon_variant LICA-FR 22 19394726 19394726 single base substitution T C missense_variant M51V 151A>G LICA-FR 22 19394726 19394726 single base substitution T C missense_variant M95V 283A>G LICA-FR 22 19395913 19395913 single base substitution G C intron_variant LICA-FR 22 19423308 19423308 deletion of <=200bp G - intron_variant LICA-FR 22 19423308 19423308 deletion of <=200bp G - upstream_gene_variant LIHC-US 22 19376069 19376069 single base substitution A G synonymous_variant C271C 813T>C LIHC-US 22 19376069 19376069 single base substitution A G synonymous_variant C315C 945T>C LINC-JP 22 19314878 19314878 single base substitution A C downstream_gene_variant LINC-JP 22 19316153 19316153 single base substitution T G downstream_gene_variant LINC-JP 22 19332277 19332277 single base substitution T C intron_variant LINC-JP 22 19343536 19343536 deletion of <=200bp T - intron_variant LINC-JP 22 19344133 19344133 single base substitution C T intron_variant LINC-JP 22 19349602 19349602 single base substitution T C intron_variant LINC-JP 22 19358978 19358978 deletion of <=200bp T - intron_variant LINC-JP 22 19371237 19371237 single base substitution G A intron_variant LINC-JP 22 19393142 19393142 single base substitution G A intron_variant LINC-JP 22 19422175 19422175 single base substitution C T intron_variant LINC-JP 22 19422175 19422175 single base substitution C T upstream_gene_variant LINC-JP 22 19422389 19422389 single base substitution A G intron_variant LINC-JP 22 19422389 19422389 single base substitution A G upstream_gene_variant LINC-JP 22 19423474 19423474 deletion of <=200bp T - intron_variant LINC-JP 22 19423474 19423474 deletion of <=200bp T - upstream_gene_variant LINC-JP 22 19431913 19431913 single base substitution G T intron_variant LINC-JP 22 19435250 19435250 single base substitution G C upstream_gene_variant LINC-JP 22 19438283 19438283 single base substitution A C upstream_gene_variant LIRI-JP 22 19313737 19313737 single base substitution A G downstream_gene_variant LIRI-JP 22 19314877 19314877 single base substitution G C downstream_gene_variant LIRI-JP 22 19315732 19315732 single base substitution A G downstream_gene_variant LIRI-JP 22 19318579 19318579 single base substitution C G 3_prime_UTR_variant LIRI-JP 22 19318579 19318579 single base substitution C G downstream_gene_variant LIRI-JP 22 19321287 19321287 single base substitution T G intron_variant LIRI-JP 22 19321520 19321520 single base substitution T A intron_variant LIRI-JP 22 19322480 19322480 single base substitution A G intron_variant LIRI-JP 22 19323082 19323082 single base substitution T C intron_variant LIRI-JP 22 19323518 19323518 single base substitution C T intron_variant LIRI-JP 22 19324923 19324923 single base substitution A G intron_variant LIRI-JP 22 19325248 19325248 single base substitution T G intron_variant LIRI-JP 22 19325416 19325416 single base substitution G A intron_variant LIRI-JP 22 19326242 19326242 single base substitution A C intron_variant LIRI-JP 22 19327522 19327522 single base substitution G A intron_variant LIRI-JP 22 19331474 19331474 single base substitution A T intron_variant LIRI-JP 22 19332408 19332408 single base substitution T C intron_variant LIRI-JP 22 19333361 19333361 single base substitution G A intron_variant LIRI-JP 22 19333512 19333512 single base substitution G A intron_variant LIRI-JP 22 19334053 19334054 deletion of <=200bp TA - downstream_gene_variant LIRI-JP 22 19334053 19334054 deletion of <=200bp TA - intron_variant LIRI-JP 22 19334577 19334577 deletion of <=200bp G - downstream_gene_variant LIRI-JP 22 19334577 19334577 deletion of <=200bp G - intron_variant LIRI-JP 22 19336582 19336582 single base substitution T C downstream_gene_variant LIRI-JP 22 19336582 19336582 single base substitution T C intron_variant LIRI-JP 22 19336707 19336707 single base substitution C A downstream_gene_variant LIRI-JP 22 19336707 19336707 single base substitution C A intron_variant LIRI-JP 22 19341110 19341110 single base substitution T C intron_variant LIRI-JP 22 19342742 19342742 single base substitution A G intron_variant LIRI-JP 22 19343533 19343533 single base substitution C A intron_variant LIRI-JP 22 19346406 19346406 single base substitution C T intron_variant LIRI-JP 22 19348449 19348449 single base substitution A G intron_variant LIRI-JP 22 19350789 19350789 single base substitution T C intron_variant LIRI-JP 22 19351764 19351764 single base substitution A C intron_variant LIRI-JP 22 19352967 19352967 single base substitution A C intron_variant LIRI-JP 22 19353863 19353863 single base substitution C T intron_variant LIRI-JP 22 19355930 19355930 single base substitution T C intron_variant LIRI-JP 22 19357638 19357638 single base substitution T C intron_variant LIRI-JP 22 19359738 19359738 single base substitution T C intron_variant LIRI-JP 22 19360631 19360631 single base substitution C T intron_variant LIRI-JP 22 19363361 19363361 single base substitution G T intron_variant LIRI-JP 22 19365980 19365980 single base substitution T C intron_variant LIRI-JP 22 19367460 19367460 single base substitution T C intron_variant LIRI-JP 22 19367656 19367656 single base substitution T C intron_variant LIRI-JP 22 19369120 19369120 single base substitution G T intron_variant LIRI-JP 22 19369142 19369142 single base substitution C T intron_variant LIRI-JP 22 19369587 19369587 single base substitution C T intron_variant LIRI-JP 22 19371613 19371613 single base substitution T C intron_variant LIRI-JP 22 19372411 19372411 single base substitution A G intron_variant LIRI-JP 22 19372427 19372427 single base substitution T C intron_variant LIRI-JP 22 19372433 19372433 single base substitution T C intron_variant LIRI-JP 22 19374089 19374089 single base substitution C A intron_variant LIRI-JP 22 19374140 19374140 single base substitution C A intron_variant LIRI-JP 22 19375161 19375161 single base substitution G C intron_variant LIRI-JP 22 19376586 19376586 single base substitution G A intron_variant LIRI-JP 22 19377554 19377554 single base substitution T G intron_variant LIRI-JP 22 19377865 19377865 single base substitution C A intron_variant LIRI-JP 22 19378761 19378761 single base substitution G C intron_variant LIRI-JP 22 19379577 19379577 single base substitution A T intron_variant LIRI-JP 22 19384515 19384515 single base substitution C T downstream_gene_variant LIRI-JP 22 19384515 19384515 single base substitution C T intron_variant LIRI-JP 22 19384606 19384606 single base substitution G A downstream_gene_variant LIRI-JP 22 19384606 19384606 single base substitution G A intron_variant LIRI-JP 22 19385689 19385689 single base substitution G A intron_variant LIRI-JP 22 19385805 19385805 single base substitution C T intron_variant LIRI-JP 22 19386387 19386387 single base substitution G T intron_variant LIRI-JP 22 19387550 19387550 single base substitution G C intron_variant LIRI-JP 22 19389638 19389638 single base substitution T G intron_variant LIRI-JP 22 19390146 19390146 single base substitution G A intron_variant LIRI-JP 22 19390270 19390270 single base substitution G A intron_variant LIRI-JP 22 19392961 19392961 single base substitution T G intron_variant LIRI-JP 22 19394274 19394274 single base substitution T A intron_variant LIRI-JP 22 19396513 19396513 single base substitution A G intron_variant LIRI-JP 22 19396910 19396910 single base substitution G T intron_variant LIRI-JP 22 19400390 19400390 single base substitution G T intron_variant LIRI-JP 22 19404251 19404251 single base substitution T C intron_variant LIRI-JP 22 19405148 19405148 single base substitution A T intron_variant LIRI-JP 22 19405267 19405267 single base substitution T C intron_variant LIRI-JP 22 19408325 19408325 single base substitution T C intron_variant LIRI-JP 22 19409638 19409638 single base substitution T C intron_variant LIRI-JP 22 19411607 19411607 single base substitution T G intron_variant LIRI-JP 22 19413816 19413816 single base substitution C T intron_variant LIRI-JP 22 19414189 19414189 single base substitution C A intron_variant LIRI-JP 22 19414635 19414635 single base substitution T C intron_variant LIRI-JP 22 19415915 19415915 single base substitution T C intron_variant LIRI-JP 22 19415917 19415917 single base substitution C G intron_variant LIRI-JP 22 19417759 19417759 single base substitution G C exon_variant LIRI-JP 22 19417759 19417759 single base substitution G C intron_variant LIRI-JP 22 19417828 19417828 single base substitution T C intron_variant LIRI-JP 22 19417828 19417828 single base substitution T C upstream_gene_variant LIRI-JP 22 19418331 19418331 insertion of <=200bp - CT intron_variant LIRI-JP 22 19418331 19418331 insertion of <=200bp - CT upstream_gene_variant LIRI-JP 22 19422538 19422538 deletion of <=200bp C - intron_variant LIRI-JP 22 19422538 19422538 deletion of <=200bp C - upstream_gene_variant LIRI-JP 22 19427178 19427178 single base substitution A G intron_variant LIRI-JP 22 19428843 19428843 single base substitution G T intron_variant LIRI-JP 22 19429583 19429583 single base substitution G T intron_variant LIRI-JP 22 19429775 19429775 single base substitution A G intron_variant LIRI-JP 22 19431037 19431037 single base substitution T C intron_variant LIRI-JP 22 19432960 19432960 single base substitution A C intron_variant LIRI-JP 22 19433225 19433225 single base substitution T C intron_variant LIRI-JP 22 19433603 19433603 single base substitution G C intron_variant LIRI-JP 22 19435638 19435638 single base substitution A G upstream_gene_variant LUSC-KR 22 19314742 19314742 single base substitution A T downstream_gene_variant LUSC-KR 22 19325842 19325842 single base substitution C G intron_variant LUSC-KR 22 19331771 19331771 single base substitution T C intron_variant LUSC-KR 22 19341403 19341403 single base substitution G T intron_variant LUSC-KR 22 19344126 19344126 single base substitution G A intron_variant LUSC-KR 22 19354228 19354228 single base substitution C G intron_variant LUSC-KR 22 19355124 19355124 single base substitution A G intron_variant LUSC-KR 22 19370083 19370083 single base substitution T C intron_variant LUSC-KR 22 19380838 19380838 single base substitution T C downstream_gene_variant LUSC-KR 22 19380838 19380838 single base substitution T C intron_variant LUSC-KR 22 19381177 19381177 single base substitution C A downstream_gene_variant LUSC-KR 22 19381177 19381177 single base substitution C A intron_variant LUSC-KR 22 19382022 19382022 single base substitution G A downstream_gene_variant LUSC-KR 22 19382022 19382022 single base substitution G A missense_variant T178M 533C>T LUSC-KR 22 19382022 19382022 single base substitution G A missense_variant T222M 665C>T LUSC-KR 22 19383131 19383131 single base substitution G C downstream_gene_variant LUSC-KR 22 19383131 19383131 single base substitution G C intron_variant LUSC-KR 22 19392240 19392240 single base substitution C T intron_variant LUSC-KR 22 19395702 19395702 single base substitution C G intron_variant LUSC-KR 22 19397576 19397576 single base substitution G A intron_variant LUSC-KR 22 19400148 19400148 single base substitution T C intron_variant LUSC-KR 22 19415144 19415144 single base substitution C A intron_variant LUSC-KR 22 19416682 19416682 single base substitution G T intron_variant LUSC-KR 22 19417210 19417210 single base substitution C G intron_variant LUSC-KR 22 19423629 19423629 single base substitution T A intron_variant LUSC-KR 22 19423629 19423629 single base substitution T A upstream_gene_variant LUSC-US 22 19371175 19371175 single base substitution G T synonymous_variant I417I 1251C>A LUSC-US 22 19371175 19371175 single base substitution G T synonymous_variant I461I 1383C>A LUSC-US 22 19371184 19371184 single base substitution C T synonymous_variant R414R 1242G>A LUSC-US 22 19371184 19371184 single base substitution C T synonymous_variant R458R 1374G>A LUSC-US 22 19384325 19384325 single base substitution G C downstream_gene_variant LUSC-US 22 19384325 19384325 single base substitution G C synonymous_variant T169T 507C>G LUSC-US 22 19384325 19384325 single base substitution G C synonymous_variant T213T 639C>G LUSC-US 22 19384447 19384447 single base substitution G A downstream_gene_variant LUSC-US 22 19384447 19384447 single base substitution G A missense_variant H129Y 385C>T LUSC-US 22 19384447 19384447 single base substitution G A missense_variant H173Y 517C>T LUSC-US 22 19384472 19384472 single base substitution T C downstream_gene_variant LUSC-US 22 19384472 19384472 single base substitution T C splice_acceptor_variant LUSC-US 22 19394780 19394780 single base substitution G A 3_prime_UTR_variant LUSC-US 22 19394780 19394780 single base substitution G A exon_variant LUSC-US 22 19394780 19394780 single base substitution G A missense_variant R33W 97C>T LUSC-US 22 19394780 19394780 single base substitution G A missense_variant R77W 229C>T MALY-DE 22 19314229 19314229 single base substitution T A downstream_gene_variant MALY-DE 22 19314962 19314962 single base substitution A T downstream_gene_variant MALY-DE 22 19323396 19323396 single base substitution C G intron_variant MALY-DE 22 19326445 19326445 single base substitution T C intron_variant MALY-DE 22 19328233 19328233 single base substitution C T intron_variant MALY-DE 22 19336493 19336493 single base substitution G A downstream_gene_variant MALY-DE 22 19336493 19336493 single base substitution G A intron_variant MALY-DE 22 19347146 19347146 single base substitution G T intron_variant MALY-DE 22 19350028 19350028 single base substitution A T intron_variant MALY-DE 22 19351963 19351963 single base substitution C A intron_variant MALY-DE 22 19355227 19355227 single base substitution C A intron_variant MALY-DE 22 19367461 19367461 single base substitution A G intron_variant MALY-DE 22 19367462 19367462 single base substitution G C intron_variant MALY-DE 22 19372492 19372492 single base substitution C T intron_variant MALY-DE 22 19374688 19374688 single base substitution G A intron_variant MALY-DE 22 19390414 19390414 single base substitution A C intron_variant MALY-DE 22 19407564 19407565 deletion of <=200bp TG - intron_variant MALY-DE 22 19408640 19408640 single base substitution G T intron_variant MALY-DE 22 19414703 19414708 deletion of <=200bp CCCCTA - intron_variant MALY-DE 22 19417424 19417424 single base substitution T G intron_variant MALY-DE 22 19428042 19428042 single base substitution G A intron_variant MALY-DE 22 19428662 19428662 single base substitution A T intron_variant MELA-AU 22 19313228 19313228 single base substitution G A downstream_gene_variant MELA-AU 22 19313526 19313526 single base substitution A G downstream_gene_variant MELA-AU 22 19313636 19313636 single base substitution C A downstream_gene_variant MELA-AU 22 19313751 19313751 single base substitution G A downstream_gene_variant MELA-AU 22 19314116 19314116 single base substitution G A downstream_gene_variant MELA-AU 22 19314435 19314435 single base substitution G A downstream_gene_variant MELA-AU 22 19314468 19314468 single base substitution C T downstream_gene_variant MELA-AU 22 19314513 19314513 single base substitution G A downstream_gene_variant MELA-AU 22 19314553 19314553 deletion of <=200bp C - downstream_gene_variant MELA-AU 22 19314782 19314782 single base substitution G A downstream_gene_variant MELA-AU 22 19316767 19316767 single base substitution G A downstream_gene_variant MELA-AU 22 19316872 19316872 single base substitution G A downstream_gene_variant MELA-AU 22 19317527 19317527 single base substitution G A downstream_gene_variant MELA-AU 22 19318098 19318098 single base substitution G A downstream_gene_variant MELA-AU 22 19318392 19318392 single base substitution A G 3_prime_UTR_variant MELA-AU 22 19318392 19318392 single base substitution A G downstream_gene_variant MELA-AU 22 19318710 19318710 single base substitution G A 3_prime_UTR_variant MELA-AU 22 19319216 19319217 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 22 19319265 19319265 single base substitution G A intron_variant MELA-AU 22 19319283 19319283 single base substitution G T intron_variant MELA-AU 22 19320826 19320826 single base substitution G A intron_variant MELA-AU 22 19320967 19320967 single base substitution G A intron_variant MELA-AU 22 19321013 19321013 single base substitution T C intron_variant MELA-AU 22 19321720 19321720 single base substitution G C intron_variant MELA-AU 22 19321767 19321767 single base substitution G A intron_variant MELA-AU 22 19321880 19321880 single base substitution A G intron_variant MELA-AU 22 19322222 19322222 single base substitution G T intron_variant MELA-AU 22 19323208 19323208 single base substitution G A intron_variant MELA-AU 22 19323283 19323283 single base substitution G A intron_variant MELA-AU 22 19323686 19323686 single base substitution G A intron_variant MELA-AU 22 19323687 19323687 single base substitution G A intron_variant MELA-AU 22 19323700 19323700 single base substitution G A intron_variant MELA-AU 22 19323765 19323766 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 19324337 19324337 single base substitution G A intron_variant MELA-AU 22 19324701 19324701 single base substitution G A intron_variant MELA-AU 22 19325681 19325681 single base substitution C T intron_variant MELA-AU 22 19326602 19326602 single base substitution G A intron_variant MELA-AU 22 19326752 19326752 single base substitution G A intron_variant MELA-AU 22 19326870 19326870 single base substitution G A intron_variant MELA-AU 22 19326886 19326886 single base substitution G T intron_variant MELA-AU 22 19326950 19326950 single base substitution G A intron_variant MELA-AU 22 19327685 19327685 single base substitution G A intron_variant MELA-AU 22 19327798 19327798 single base substitution G A intron_variant MELA-AU 22 19327948 19327948 single base substitution A T intron_variant MELA-AU 22 19328220 19328220 single base substitution A T intron_variant MELA-AU 22 19329003 19329003 single base substitution G A intron_variant MELA-AU 22 19330102 19330102 single base substitution G T intron_variant MELA-AU 22 19330323 19330323 single base substitution C T intron_variant MELA-AU 22 19332075 19332075 single base substitution T C intron_variant MELA-AU 22 19332749 19332749 single base substitution G A intron_variant MELA-AU 22 19333302 19333302 single base substitution C T intron_variant MELA-AU 22 19333510 19333510 single base substitution G A intron_variant MELA-AU 22 19333575 19333575 single base substitution G A intron_variant MELA-AU 22 19333704 19333704 single base substitution G A intron_variant MELA-AU 22 19333924 19333924 single base substitution G A downstream_gene_variant MELA-AU 22 19333924 19333924 single base substitution G A intron_variant MELA-AU 22 19333992 19333992 single base substitution G A downstream_gene_variant MELA-AU 22 19333992 19333992 single base substitution G A intron_variant MELA-AU 22 19334304 19334304 single base substitution G A downstream_gene_variant MELA-AU 22 19334304 19334304 single base substitution G A intron_variant MELA-AU 22 19334332 19334332 single base substitution G A downstream_gene_variant MELA-AU 22 19334332 19334332 single base substitution G A intron_variant MELA-AU 22 19334372 19334372 single base substitution G A downstream_gene_variant MELA-AU 22 19334372 19334372 single base substitution G A intron_variant MELA-AU 22 19334509 19334509 single base substitution C T downstream_gene_variant MELA-AU 22 19334509 19334509 single base substitution C T intron_variant MELA-AU 22 19334583 19334583 single base substitution C T downstream_gene_variant MELA-AU 22 19334583 19334583 single base substitution C T intron_variant MELA-AU 22 19334660 19334660 single base substitution C A downstream_gene_variant MELA-AU 22 19334660 19334660 single base substitution C A intron_variant MELA-AU 22 19335009 19335009 single base substitution G A downstream_gene_variant MELA-AU 22 19335009 19335009 single base substitution G A intron_variant MELA-AU 22 19335009 19335009 single base substitution G C downstream_gene_variant MELA-AU 22 19335009 19335009 single base substitution G C intron_variant MELA-AU 22 19335044 19335044 single base substitution G A downstream_gene_variant MELA-AU 22 19335044 19335044 single base substitution G A intron_variant MELA-AU 22 19335060 19335060 single base substitution G A downstream_gene_variant MELA-AU 22 19335060 19335060 single base substitution G A intron_variant MELA-AU 22 19335736 19335736 single base substitution G A downstream_gene_variant MELA-AU 22 19335736 19335736 single base substitution G A intron_variant MELA-AU 22 19335882 19335882 single base substitution G A downstream_gene_variant MELA-AU 22 19335882 19335882 single base substitution G A intron_variant MELA-AU 22 19336368 19336368 single base substitution G A downstream_gene_variant MELA-AU 22 19336368 19336368 single base substitution G A intron_variant MELA-AU 22 19336653 19336653 single base substitution G A downstream_gene_variant MELA-AU 22 19336653 19336653 single base substitution G A intron_variant MELA-AU 22 19338240 19338241 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 19338240 19338241 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 19338252 19338252 single base substitution C T downstream_gene_variant MELA-AU 22 19338252 19338252 single base substitution C T intron_variant MELA-AU 22 19338870 19338870 single base substitution G A downstream_gene_variant MELA-AU 22 19338870 19338870 single base substitution G A intron_variant MELA-AU 22 19339023 19339023 single base substitution G A intron_variant MELA-AU 22 19339239 19339239 single base substitution G A intron_variant MELA-AU 22 19339360 19339360 single base substitution G A intron_variant MELA-AU 22 19340022 19340022 single base substitution G A intron_variant MELA-AU 22 19340171 19340171 single base substitution T C intron_variant MELA-AU 22 19340449 19340449 single base substitution G A intron_variant MELA-AU 22 19341015 19341015 single base substitution G A 3_prime_UTR_variant MELA-AU 22 19341015 19341015 single base substitution G A synonymous_variant F697F 2091C>T MELA-AU 22 19341015 19341015 single base substitution G A synonymous_variant F860F 2580C>T MELA-AU 22 19341015 19341015 single base substitution G A synonymous_variant F904F 2712C>T MELA-AU 22 19341024 19341024 single base substitution G A 3_prime_UTR_variant MELA-AU 22 19341024 19341024 single base substitution G A synonymous_variant A694A 2082C>T MELA-AU 22 19341024 19341024 single base substitution G A synonymous_variant A857A 2571C>T MELA-AU 22 19341024 19341024 single base substitution G A synonymous_variant A901A 2703C>T MELA-AU 22 19341313 19341314 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 19341550 19341550 single base substitution G A missense_variant P678S 2032C>T MELA-AU 22 19341550 19341550 single base substitution G A missense_variant P841S 2521C>T MELA-AU 22 19341550 19341550 single base substitution G A missense_variant P885S 2653C>T MELA-AU 22 19341550 19341550 single base substitution G A synonymous_variant D805D 2415C>T MELA-AU 22 19342276 19342277 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 19343127 19343127 single base substitution G A intron_variant MELA-AU 22 19344202 19344202 single base substitution A G intron_variant MELA-AU 22 19344336 19344337 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 19344739 19344739 single base substitution G A intron_variant MELA-AU 22 19344813 19344813 single base substitution G A intron_variant MELA-AU 22 19345408 19345408 single base substitution C T intron_variant MELA-AU 22 19345427 19345427 single base substitution G A intron_variant MELA-AU 22 19345546 19345546 single base substitution A G intron_variant MELA-AU 22 19345838 19345838 single base substitution G A intron_variant MELA-AU 22 19346089 19346089 single base substitution G A intron_variant MELA-AU 22 19346216 19346216 single base substitution C T intron_variant MELA-AU 22 19346501 19346501 single base substitution C T intron_variant MELA-AU 22 19346550 19346550 single base substitution G A intron_variant MELA-AU 22 19346995 19346995 single base substitution G A intron_variant MELA-AU 22 19346995 19346995 single base substitution G A missense_variant P656S 1966C>T MELA-AU 22 19346995 19346995 single base substitution G A missense_variant P700S 2098C>T MELA-AU 22 19347154 19347154 single base substitution G A intron_variant MELA-AU 22 19347303 19347304 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 19347334 19347334 single base substitution A C intron_variant MELA-AU 22 19347836 19347836 single base substitution G A intron_variant MELA-AU 22 19347848 19347848 single base substitution G A intron_variant MELA-AU 22 19348053 19348053 single base substitution G A intron_variant MELA-AU 22 19348687 19348687 single base substitution G A intron_variant MELA-AU 22 19348733 19348733 single base substitution G A intron_variant MELA-AU 22 19348998 19348998 single base substitution G A intron_variant MELA-AU 22 19349089 19349089 single base substitution G A intron_variant MELA-AU 22 19349682 19349682 single base substitution A G intron_variant MELA-AU 22 19350578 19350578 single base substitution G A intron_variant MELA-AU 22 19351085 19351085 single base substitution G A intron_variant MELA-AU 22 19351563 19351563 single base substitution T A intron_variant MELA-AU 22 19351565 19351565 single base substitution G A intron_variant MELA-AU 22 19352617 19352617 single base substitution G A intron_variant MELA-AU 22 19352662 19352662 single base substitution G A intron_variant MELA-AU 22 19353086 19353086 single base substitution G A intron_variant MELA-AU 22 19353259 19353259 single base substitution C T intron_variant MELA-AU 22 19353811 19353811 single base substitution G A intron_variant MELA-AU 22 19354233 19354233 single base substitution G A intron_variant MELA-AU 22 19354282 19354282 single base substitution G T intron_variant MELA-AU 22 19354386 19354386 single base substitution G A intron_variant MELA-AU 22 19355014 19355014 single base substitution C A intron_variant MELA-AU 22 19355158 19355158 single base substitution G A intron_variant MELA-AU 22 19355392 19355392 single base substitution G A intron_variant MELA-AU 22 19355567 19355567 single base substitution G A intron_variant MELA-AU 22 19355801 19355801 single base substitution G A intron_variant MELA-AU 22 19356155 19356155 single base substitution G A intron_variant MELA-AU 22 19356264 19356264 single base substitution G A intron_variant MELA-AU 22 19356546 19356546 single base substitution G A intron_variant MELA-AU 22 19356791 19356791 single base substitution G A intron_variant MELA-AU 22 19357077 19357077 single base substitution G A intron_variant MELA-AU 22 19357312 19357313 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 19357339 19357339 single base substitution C T intron_variant MELA-AU 22 19358100 19358100 single base substitution C T intron_variant MELA-AU 22 19359555 19359555 single base substitution G A intron_variant MELA-AU 22 19360009 19360009 single base substitution A T intron_variant MELA-AU 22 19360046 19360046 single base substitution A T intron_variant MELA-AU 22 19360118 19360118 single base substitution G A intron_variant MELA-AU 22 19360952 19360952 single base substitution C T intron_variant MELA-AU 22 19361024 19361024 single base substitution G A intron_variant MELA-AU 22 19361242 19361242 single base substitution C T intron_variant MELA-AU 22 19361648 19361648 single base substitution G A intron_variant MELA-AU 22 19361767 19361767 single base substitution G A intron_variant MELA-AU 22 19362017 19362017 single base substitution G C intron_variant MELA-AU 22 19362428 19362428 single base substitution C T intron_variant MELA-AU 22 19362452 19362452 single base substitution T C intron_variant MELA-AU 22 19362831 19362831 single base substitution C T intron_variant MELA-AU 22 19363005 19363005 single base substitution G A intron_variant MELA-AU 22 19363158 19363158 single base substitution C T missense_variant E547K 1639G>A MELA-AU 22 19363158 19363158 single base substitution C T missense_variant E591K 1771G>A MELA-AU 22 19363360 19363360 single base substitution G A intron_variant MELA-AU 22 19363497 19363497 single base substitution G A intron_variant MELA-AU 22 19364977 19364977 single base substitution G A intron_variant MELA-AU 22 19365244 19365244 single base substitution A T intron_variant MELA-AU 22 19365472 19365472 single base substitution G A synonymous_variant S467S 1401C>T MELA-AU 22 19365472 19365472 single base substitution G A synonymous_variant S511S 1533C>T MELA-AU 22 19365775 19365775 single base substitution G A intron_variant MELA-AU 22 19366061 19366061 single base substitution G A intron_variant MELA-AU 22 19366355 19366355 single base substitution G A intron_variant MELA-AU 22 19366706 19366706 single base substitution T C intron_variant MELA-AU 22 19367749 19367749 single base substitution A T intron_variant MELA-AU 22 19368957 19368957 single base substitution G A intron_variant MELA-AU 22 19369691 19369691 single base substitution G A intron_variant MELA-AU 22 19369802 19369802 single base substitution G T intron_variant MELA-AU 22 19370236 19370236 single base substitution G T intron_variant MELA-AU 22 19370496 19370496 single base substitution A C intron_variant MELA-AU 22 19370584 19370584 single base substitution G A intron_variant MELA-AU 22 19370588 19370589 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 19370643 19370643 single base substitution G A intron_variant MELA-AU 22 19370673 19370673 single base substitution A G intron_variant MELA-AU 22 19370792 19370792 single base substitution C T intron_variant MELA-AU 22 19371723 19371723 single base substitution C T intron_variant MELA-AU 22 19372866 19372866 single base substitution A C intron_variant MELA-AU 22 19373033 19373033 single base substitution A G intron_variant MELA-AU 22 19373737 19373737 single base substitution G A intron_variant MELA-AU 22 19373743 19373743 single base substitution G A intron_variant MELA-AU 22 19374495 19374495 single base substitution G A intron_variant MELA-AU 22 19376953 19376953 single base substitution G A intron_variant MELA-AU 22 19376991 19376991 single base substitution G A intron_variant MELA-AU 22 19377024 19377024 single base substitution G A intron_variant MELA-AU 22 19377192 19377192 single base substitution G A intron_variant MELA-AU 22 19377265 19377265 single base substitution G A intron_variant MELA-AU 22 19377691 19377691 single base substitution G A intron_variant MELA-AU 22 19378128 19378128 single base substitution A T intron_variant MELA-AU 22 19378246 19378246 single base substitution G A intron_variant MELA-AU 22 19378504 19378504 single base substitution A G intron_variant MELA-AU 22 19378895 19378895 single base substitution G A intron_variant MELA-AU 22 19379471 19379471 single base substitution G A intron_variant MELA-AU 22 19379495 19379495 single base substitution G A intron_variant MELA-AU 22 19379600 19379600 single base substitution A G intron_variant MELA-AU 22 19380167 19380167 single base substitution G A intron_variant MELA-AU 22 19380709 19380709 single base substitution G A downstream_gene_variant MELA-AU 22 19380709 19380709 single base substitution G A intron_variant MELA-AU 22 19380709 19380710 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 19380709 19380710 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 19380722 19380722 single base substitution G A downstream_gene_variant MELA-AU 22 19380722 19380722 single base substitution G A intron_variant MELA-AU 22 19380899 19380899 single base substitution G A downstream_gene_variant MELA-AU 22 19380899 19380899 single base substitution G A intron_variant MELA-AU 22 19381119 19381119 single base substitution T C downstream_gene_variant MELA-AU 22 19381119 19381119 single base substitution T C intron_variant MELA-AU 22 19381670 19381670 single base substitution G A downstream_gene_variant MELA-AU 22 19381670 19381670 single base substitution G A intron_variant MELA-AU 22 19381945 19381945 single base substitution G A downstream_gene_variant MELA-AU 22 19381945 19381945 single base substitution G A missense_variant P204S 610C>T MELA-AU 22 19381945 19381945 single base substitution G A missense_variant P248S 742C>T MELA-AU 22 19382100 19382100 single base substitution G A downstream_gene_variant MELA-AU 22 19382100 19382100 single base substitution G A intron_variant MELA-AU 22 19382577 19382577 single base substitution G A downstream_gene_variant MELA-AU 22 19382577 19382577 single base substitution G A intron_variant MELA-AU 22 19383176 19383176 single base substitution C A downstream_gene_variant MELA-AU 22 19383176 19383176 single base substitution C A intron_variant MELA-AU 22 19383438 19383438 single base substitution G A downstream_gene_variant MELA-AU 22 19383438 19383438 single base substitution G A intron_variant MELA-AU 22 19383617 19383617 single base substitution A G downstream_gene_variant MELA-AU 22 19383617 19383617 single base substitution A G intron_variant MELA-AU 22 19383650 19383650 single base substitution C T downstream_gene_variant MELA-AU 22 19383650 19383650 single base substitution C T intron_variant MELA-AU 22 19383837 19383837 single base substitution G A downstream_gene_variant MELA-AU 22 19383837 19383837 single base substitution G A intron_variant MELA-AU 22 19384119 19384119 single base substitution G A downstream_gene_variant MELA-AU 22 19384119 19384119 single base substitution G A intron_variant MELA-AU 22 19384257 19384257 single base substitution G A downstream_gene_variant MELA-AU 22 19384257 19384257 single base substitution G A intron_variant MELA-AU 22 19385007 19385007 single base substitution G A downstream_gene_variant MELA-AU 22 19385007 19385007 single base substitution G A intron_variant MELA-AU 22 19385441 19385441 single base substitution G A downstream_gene_variant MELA-AU 22 19385441 19385441 single base substitution G A intron_variant MELA-AU 22 19385736 19385736 single base substitution A T intron_variant MELA-AU 22 19386132 19386132 single base substitution G A intron_variant MELA-AU 22 19386395 19386395 single base substitution G A intron_variant MELA-AU 22 19387177 19387177 insertion of <=200bp - AGAC intron_variant MELA-AU 22 19387324 19387324 single base substitution G A intron_variant MELA-AU 22 19387475 19387475 single base substitution T C intron_variant MELA-AU 22 19387822 19387822 single base substitution G A intron_variant MELA-AU 22 19388006 19388006 single base substitution G A intron_variant MELA-AU 22 19388077 19388077 single base substitution G A intron_variant MELA-AU 22 19388525 19388525 single base substitution A G intron_variant MELA-AU 22 19389835 19389835 single base substitution G A intron_variant MELA-AU 22 19389983 19389983 single base substitution T A intron_variant MELA-AU 22 19390074 19390074 single base substitution C T intron_variant MELA-AU 22 19390102 19390102 single base substitution C T intron_variant MELA-AU 22 19390430 19390430 single base substitution A C intron_variant MELA-AU 22 19390553 19390553 single base substitution G A intron_variant MELA-AU 22 19391046 19391046 insertion of <=200bp - A intron_variant MELA-AU 22 19391158 19391158 single base substitution T C intron_variant MELA-AU 22 19392286 19392286 single base substitution A C intron_variant MELA-AU 22 19392761 19392761 single base substitution G A intron_variant MELA-AU 22 19393617 19393617 single base substitution G A intron_variant MELA-AU 22 19393802 19393802 single base substitution G A intron_variant MELA-AU 22 19394263 19394263 single base substitution C T intron_variant MELA-AU 22 19394429 19394429 single base substitution G A intron_variant MELA-AU 22 19394612 19394612 single base substitution G A intron_variant MELA-AU 22 19395008 19395008 single base substitution G A intron_variant MELA-AU 22 19395167 19395167 single base substitution G A intron_variant MELA-AU 22 19395516 19395516 single base substitution G A intron_variant MELA-AU 22 19395965 19395965 single base substitution C A intron_variant MELA-AU 22 19396153 19396153 single base substitution G A intron_variant MELA-AU 22 19396380 19396380 single base substitution G A intron_variant MELA-AU 22 19396555 19396555 single base substitution G A intron_variant MELA-AU 22 19396624 19396624 single base substitution C T intron_variant MELA-AU 22 19396660 19396660 single base substitution G A intron_variant MELA-AU 22 19396725 19396725 single base substitution G A intron_variant MELA-AU 22 19397390 19397390 single base substitution G A intron_variant MELA-AU 22 19397876 19397876 deletion of <=200bp T - intron_variant MELA-AU 22 19398872 19398872 single base substitution G A intron_variant MELA-AU 22 19399961 19399961 single base substitution G A intron_variant MELA-AU 22 19400081 19400081 single base substitution C T intron_variant MELA-AU 22 19400775 19400775 single base substitution G A intron_variant MELA-AU 22 19401114 19401114 single base substitution G A intron_variant MELA-AU 22 19401123 19401123 single base substitution T C intron_variant MELA-AU 22 19401126 19401126 single base substitution T C intron_variant MELA-AU 22 19401156 19401156 single base substitution A G intron_variant MELA-AU 22 19401184 19401184 single base substitution G A intron_variant MELA-AU 22 19402951 19402951 single base substitution G A intron_variant MELA-AU 22 19403130 19403130 single base substitution G A intron_variant MELA-AU 22 19403414 19403414 single base substitution G A intron_variant MELA-AU 22 19403812 19403812 single base substitution G A intron_variant MELA-AU 22 19404549 19404549 single base substitution C T intron_variant MELA-AU 22 19405077 19405078 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 19405078 19405078 single base substitution G A intron_variant MELA-AU 22 19405273 19405273 single base substitution T C intron_variant MELA-AU 22 19405425 19405425 single base substitution G A intron_variant MELA-AU 22 19405753 19405753 single base substitution G A intron_variant MELA-AU 22 19405837 19405837 single base substitution G A intron_variant MELA-AU 22 19405938 19405938 single base substitution G A intron_variant MELA-AU 22 19406082 19406082 single base substitution G A intron_variant MELA-AU 22 19406088 19406088 single base substitution G A intron_variant MELA-AU 22 19406899 19406900 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 19407077 19407077 single base substitution G A intron_variant MELA-AU 22 19407900 19407900 single base substitution G A intron_variant MELA-AU 22 19408190 19408190 single base substitution G A intron_variant MELA-AU 22 19408719 19408719 single base substitution G A intron_variant MELA-AU 22 19409979 19409979 single base substitution G A intron_variant MELA-AU 22 19410124 19410124 single base substitution A G intron_variant MELA-AU 22 19410387 19410387 single base substitution G A intron_variant MELA-AU 22 19411151 19411151 single base substitution T C intron_variant MELA-AU 22 19411200 19411200 single base substitution C T intron_variant MELA-AU 22 19411456 19411456 single base substitution G A intron_variant MELA-AU 22 19412115 19412115 single base substitution G A intron_variant MELA-AU 22 19412386 19412386 single base substitution G A intron_variant MELA-AU 22 19412449 19412450 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 19412951 19412952 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 19413291 19413291 single base substitution G A intron_variant MELA-AU 22 19413903 19413903 single base substitution C T intron_variant MELA-AU 22 19414971 19414971 single base substitution C T intron_variant MELA-AU 22 19414977 19414977 single base substitution G A intron_variant MELA-AU 22 19415071 19415071 single base substitution G A intron_variant MELA-AU 22 19416032 19416032 single base substitution G A intron_variant MELA-AU 22 19416929 19416929 single base substitution G A intron_variant MELA-AU 22 19417542 19417542 single base substitution C T intron_variant MELA-AU 22 19419874 19419874 single base substitution A T intron_variant MELA-AU 22 19419874 19419874 single base substitution A T upstream_gene_variant MELA-AU 22 19420824 19420824 single base substitution T G intron_variant MELA-AU 22 19420824 19420824 single base substitution T G upstream_gene_variant MELA-AU 22 19421160 19421160 single base substitution C T intron_variant MELA-AU 22 19421160 19421160 single base substitution C T upstream_gene_variant MELA-AU 22 19422440 19422440 single base substitution G A intron_variant MELA-AU 22 19422440 19422440 single base substitution G A upstream_gene_variant MELA-AU 22 19423327 19423327 single base substitution C T intron_variant MELA-AU 22 19423327 19423327 single base substitution C T upstream_gene_variant MELA-AU 22 19423398 19423398 single base substitution C A intron_variant MELA-AU 22 19423398 19423398 single base substitution C A upstream_gene_variant MELA-AU 22 19423416 19423416 single base substitution C G intron_variant MELA-AU 22 19423416 19423416 single base substitution C G upstream_gene_variant MELA-AU 22 19423629 19423629 single base substitution T A intron_variant MELA-AU 22 19423629 19423629 single base substitution T A upstream_gene_variant MELA-AU 22 19428300 19428300 single base substitution C T intron_variant MELA-AU 22 19428570 19428570 single base substitution G A intron_variant MELA-AU 22 19429883 19429883 single base substitution A T intron_variant MELA-AU 22 19431268 19431268 single base substitution A G intron_variant MELA-AU 22 19431337 19431337 single base substitution A G intron_variant MELA-AU 22 19431448 19431449 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 22 19431756 19431756 single base substitution G A intron_variant MELA-AU 22 19431966 19431966 single base substitution C T intron_variant MELA-AU 22 19432710 19432710 single base substitution C T intron_variant MELA-AU 22 19433596 19433596 single base substitution T C intron_variant MELA-AU 22 19434155 19434155 single base substitution C T intron_variant MELA-AU 22 19434514 19434514 single base substitution T C intron_variant MELA-AU 22 19435279 19435279 single base substitution A C upstream_gene_variant MELA-AU 22 19436146 19436146 single base substitution T C upstream_gene_variant MELA-AU 22 19436626 19436626 single base substitution C T upstream_gene_variant MELA-AU 22 19437310 19437310 single base substitution G A upstream_gene_variant MELA-AU 22 19438611 19438612 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 22 19439461 19439461 single base substitution C T upstream_gene_variant MELA-AU 22 19439800 19439800 single base substitution A T upstream_gene_variant MELA-AU 22 19439934 19439934 single base substitution G A upstream_gene_variant ORCA-IN 22 19322970 19322970 single base substitution G A intron_variant ORCA-IN 22 19342365 19342365 deletion of <=200bp A - intron_variant ORCA-IN 22 19343760 19343760 single base substitution G A synonymous_variant I609I 1827C>T ORCA-IN 22 19343760 19343760 single base substitution G A synonymous_variant I772I 2316C>T ORCA-IN 22 19343760 19343760 single base substitution G A synonymous_variant I816I 2448C>T ORCA-IN 22 19355062 19355062 single base substitution G A intron_variant ORCA-IN 22 19370293 19370294 deletion of <=200bp TC - intron_variant ORCA-IN 22 19373097 19373097 single base substitution C A missense_variant A382S 1144G>T ORCA-IN 22 19373097 19373097 single base substitution C A missense_variant A426S 1276G>T ORCA-IN 22 19383583 19383583 single base substitution G A downstream_gene_variant ORCA-IN 22 19383583 19383583 single base substitution G A intron_variant ORCA-IN 22 19388895 19388895 single base substitution A G intron_variant ORCA-IN 22 19407935 19407935 single base substitution G A intron_variant ORCA-IN 22 19429563 19429563 single base substitution C G intron_variant OV-AU 22 19315917 19315917 single base substitution G T downstream_gene_variant OV-AU 22 19319079 19319079 single base substitution C A missense_variant G773C 2317G>T OV-AU 22 19319079 19319079 single base substitution C A missense_variant G936C 2806G>T OV-AU 22 19319079 19319079 single base substitution C A missense_variant G980C 2938G>T OV-AU 22 19335220 19335220 single base substitution G A downstream_gene_variant OV-AU 22 19335220 19335220 single base substitution G A intron_variant OV-AU 22 19337850 19337850 single base substitution A T downstream_gene_variant OV-AU 22 19337850 19337850 single base substitution A T intron_variant OV-AU 22 19347968 19347968 single base substitution G C intron_variant OV-AU 22 19363857 19363857 single base substitution C G intron_variant OV-AU 22 19369423 19369423 single base substitution G A intron_variant OV-AU 22 19371172 19371188 deletion of <=200bp CGTGATTCTTCTCCGGC - frameshift_variant GRRRIT413 OV-AU 22 19371172 19371188 deletion of <=200bp CGTGATTCTTCTCCGGC - frameshift_variant GRRRIT457 OV-AU 22 19374310 19374310 single base substitution C G intron_variant OV-AU 22 19377496 19377496 single base substitution T C intron_variant OV-AU 22 19385290 19385290 single base substitution C G downstream_gene_variant OV-AU 22 19385290 19385290 single base substitution C G intron_variant OV-AU 22 19390015 19390015 single base substitution G C intron_variant OV-AU 22 19399582 19399582 single base substitution A C intron_variant OV-AU 22 19401938 19401938 single base substitution G C intron_variant OV-AU 22 19406651 19406651 single base substitution C T intron_variant OV-AU 22 19413291 19413291 single base substitution G A intron_variant OV-AU 22 19419035 19419035 single base substitution G A 5_prime_UTR_variant OV-AU 22 19419035 19419035 single base substitution G A intron_variant OV-AU 22 19419035 19419035 single base substitution G A upstream_gene_variant OV-AU 22 19424726 19424726 single base substitution A G intron_variant OV-AU 22 19427014 19427014 single base substitution G C intron_variant OV-AU 22 19430173 19430173 single base substitution C G intron_variant PACA-AU 22 19316367 19316367 single base substitution C T downstream_gene_variant PACA-AU 22 19320006 19320006 single base substitution T C intron_variant PACA-AU 22 19325060 19325060 single base substitution G C intron_variant PACA-AU 22 19325637 19325637 single base substitution C A intron_variant PACA-AU 22 19329051 19329051 single base substitution C G intron_variant PACA-AU 22 19333778 19333778 single base substitution G A intron_variant PACA-AU 22 19340598 19340598 single base substitution T A intron_variant PACA-AU 22 19351216 19351216 single base substitution T C intron_variant PACA-AU 22 19357666 19357666 single base substitution G A intron_variant PACA-AU 22 19357914 19357914 single base substitution G A intron_variant PACA-AU 22 19362080 19362080 single base substitution T C intron_variant PACA-AU 22 19369053 19369054 deletion of <=200bp GA - intron_variant PACA-AU 22 19372901 19372901 single base substitution G A intron_variant PACA-AU 22 19373136 19373138 deletion of <=200bp GCT - disruptive_inframe_deletion QL368L PACA-AU 22 19373136 19373138 deletion of <=200bp GCT - disruptive_inframe_deletion QL412L PACA-AU 22 19376573 19376573 single base substitution G A intron_variant PACA-AU 22 19378142 19378142 single base substitution A G intron_variant PACA-AU 22 19379799 19379799 single base substitution C G intron_variant PACA-AU 22 19383146 19383146 single base substitution G C downstream_gene_variant PACA-AU 22 19383146 19383146 single base substitution G C intron_variant PACA-AU 22 19383210 19383210 single base substitution T A downstream_gene_variant PACA-AU 22 19383210 19383210 single base substitution T A intron_variant PACA-AU 22 19389418 19389418 single base substitution C T intron_variant PACA-AU 22 19389774 19389774 single base substitution T A intron_variant PACA-AU 22 19393356 19393356 single base substitution T C 3_prime_UTR_variant PACA-AU 22 19393356 19393356 single base substitution T C exon_variant PACA-AU 22 19393356 19393356 single base substitution T C missense_variant N117S 350A>G PACA-AU 22 19393356 19393356 single base substitution T C missense_variant N73S 218A>G PACA-AU 22 19394072 19394072 single base substitution G C intron_variant PACA-AU 22 19401119 19401119 insertion of <=200bp - TATT intron_variant PACA-AU 22 19404090 19404090 single base substitution T C intron_variant PACA-AU 22 19408704 19408705 deletion of <=200bp CC - intron_variant PACA-AU 22 19409273 19409273 single base substitution C T intron_variant PACA-AU 22 19416090 19416090 single base substitution C T intron_variant PACA-AU 22 19416259 19416259 single base substitution C T intron_variant PACA-AU 22 19420402 19420402 single base substitution G A intron_variant PACA-AU 22 19420402 19420402 single base substitution G A upstream_gene_variant PACA-AU 22 19430565 19430565 single base substitution C G intron_variant PACA-AU 22 19430620 19430620 single base substitution A C intron_variant PACA-AU 22 19432429 19432437 deletion of <=200bp TGCCACTTA - intron_variant PACA-CA 22 19315153 19315155 deletion of <=200bp CTA - downstream_gene_variant PACA-CA 22 19328869 19328869 single base substitution A G intron_variant PACA-CA 22 19331797 19331797 single base substitution A G intron_variant PACA-CA 22 19332408 19332408 single base substitution T C intron_variant PACA-CA 22 19334712 19334712 single base substitution C A downstream_gene_variant PACA-CA 22 19334712 19334712 single base substitution C A intron_variant PACA-CA 22 19336955 19336955 single base substitution T C downstream_gene_variant PACA-CA 22 19336955 19336955 single base substitution T C intron_variant PACA-CA 22 19337263 19337263 single base substitution G T downstream_gene_variant PACA-CA 22 19337263 19337263 single base substitution G T intron_variant PACA-CA 22 19338968 19338968 single base substitution C A splice_region_variant PACA-CA 22 19339939 19339939 single base substitution A C intron_variant PACA-CA 22 19340794 19340794 single base substitution T C intron_variant PACA-CA 22 19350767 19350767 single base substitution C A intron_variant PACA-CA 22 19353621 19353621 single base substitution C T intron_variant PACA-CA 22 19354952 19354952 single base substitution T G intron_variant PACA-CA 22 19356927 19356927 single base substitution G A intron_variant PACA-CA 22 19357518 19357518 single base substitution G C intron_variant PACA-CA 22 19358921 19358921 single base substitution C G intron_variant PACA-CA 22 19363371 19363371 single base substitution T C intron_variant PACA-CA 22 19366005 19366005 single base substitution A C intron_variant PACA-CA 22 19369986 19369986 single base substitution T A intron_variant PACA-CA 22 19370195 19370195 single base substitution T A intron_variant PACA-CA 22 19370558 19370558 single base substitution C T intron_variant PACA-CA 22 19370672 19370672 deletion of <=200bp A - intron_variant PACA-CA 22 19376326 19376326 single base substitution T A intron_variant PACA-CA 22 19378495 19378495 single base substitution A T intron_variant PACA-CA 22 19378658 19378658 single base substitution T A intron_variant PACA-CA 22 19379909 19379909 single base substitution A G intron_variant PACA-CA 22 19384368 19384368 single base substitution T C downstream_gene_variant PACA-CA 22 19384368 19384368 single base substitution T C missense_variant K155R 464A>G PACA-CA 22 19384368 19384368 single base substitution T C missense_variant K199R 596A>G PACA-CA 22 19384598 19384598 single base substitution C A downstream_gene_variant PACA-CA 22 19384598 19384598 single base substitution C A intron_variant PACA-CA 22 19384848 19384848 single base substitution A C downstream_gene_variant PACA-CA 22 19384848 19384848 single base substitution A C intron_variant PACA-CA 22 19386491 19386491 insertion of <=200bp - A intron_variant PACA-CA 22 19387976 19387976 single base substitution T C intron_variant PACA-CA 22 19401121 19401121 single base substitution T C intron_variant PACA-CA 22 19401156 19401156 single base substitution A G intron_variant PACA-CA 22 19408906 19408906 single base substitution C A intron_variant PACA-CA 22 19411165 19411168 deletion of <=200bp TCAA - intron_variant PACA-CA 22 19411313 19411313 single base substitution T G intron_variant PACA-CA 22 19415362 19415362 single base substitution C A intron_variant PACA-CA 22 19418222 19418222 single base substitution A C intron_variant PACA-CA 22 19418222 19418222 single base substitution A C upstream_gene_variant PACA-CA 22 19424467 19424467 single base substitution C T intron_variant PACA-CA 22 19429073 19429073 single base substitution A G intron_variant PACA-CA 22 19435308 19435308 single base substitution T C upstream_gene_variant PACA-CA 22 19436040 19436040 single base substitution C T upstream_gene_variant PAEN-AU 22 19381916 19381916 single base substitution T C downstream_gene_variant PAEN-AU 22 19381916 19381916 single base substitution T C synonymous_variant G213G 639A>G PAEN-AU 22 19381916 19381916 single base substitution T C synonymous_variant G257G 771A>G PAEN-AU 22 19400054 19400054 single base substitution T A intron_variant PAEN-AU 22 19436076 19436076 single base substitution A C upstream_gene_variant PAEN-IT 22 19337970 19337970 single base substitution T C downstream_gene_variant PAEN-IT 22 19337970 19337970 single base substitution T C intron_variant PAEN-IT 22 19340311 19340311 single base substitution G C intron_variant PAEN-IT 22 19413004 19413004 single base substitution C T intron_variant PBCA-DE 22 19314654 19314654 insertion of <=200bp - GCCTTA downstream_gene_variant PBCA-DE 22 19318839 19318839 single base substitution A C 3_prime_UTR_variant PBCA-DE 22 19336476 19336476 deletion of <=200bp T - downstream_gene_variant PBCA-DE 22 19336476 19336476 deletion of <=200bp T - intron_variant PBCA-DE 22 19339918 19339918 single base substitution G A intron_variant PBCA-DE 22 19344624 19344624 single base substitution C A intron_variant PBCA-DE 22 19350090 19350092 deletion of <=200bp TTT - intron_variant PBCA-DE 22 19355953 19355953 deletion of <=200bp T - intron_variant PBCA-DE 22 19406449 19406450 deletion of <=200bp AC - intron_variant PBCA-DE 22 19407564 19407565 deletion of <=200bp TG - intron_variant PBCA-DE 22 19409726 19409726 single base substitution T C intron_variant PBCA-DE 22 19409728 19409728 single base substitution T C intron_variant PBCA-DE 22 19409734 19409734 single base substitution T C intron_variant PBCA-DE 22 19421581 19421581 single base substitution C T intron_variant PBCA-DE 22 19421581 19421581 single base substitution C T upstream_gene_variant PRAD-CA 22 19322452 19322452 single base substitution A G intron_variant PRAD-CA 22 19394598 19394598 single base substitution G A intron_variant PRAD-CA 22 19426573 19426573 single base substitution A G intron_variant PRAD-CA 22 19430827 19430827 single base substitution C T intron_variant PRAD-UK 22 19321793 19321793 single base substitution C A intron_variant PRAD-UK 22 19327028 19327028 single base substitution C T intron_variant PRAD-UK 22 19341785 19341785 single base substitution C G intron_variant PRAD-UK 22 19345421 19345421 deletion of <=200bp G - intron_variant PRAD-UK 22 19349766 19349766 single base substitution C A intron_variant PRAD-UK 22 19372310 19372310 single base substitution G T intron_variant PRAD-UK 22 19373780 19373780 single base substitution T A intron_variant PRAD-UK 22 19380295 19380295 deletion of <=200bp C - intron_variant PRAD-UK 22 19391006 19391006 single base substitution G A intron_variant PRAD-UK 22 19414658 19414658 single base substitution A G intron_variant PRAD-UK 22 19419387 19419387 single base substitution G C intron_variant PRAD-UK 22 19419387 19419387 single base substitution G C upstream_gene_variant PRAD-UK 22 19431150 19431150 single base substitution T C intron_variant PRAD-UK 22 19433496 19433496 single base substitution C T intron_variant PRAD-US 22 19423224 19423224 single base substitution G T intron_variant PRAD-US 22 19423224 19423224 single base substitution G T upstream_gene_variant READ-US 22 19363215 19363215 single base substitution G A missense_variant R528W 1582C>T READ-US 22 19363215 19363215 single base substitution G A missense_variant R572W 1714C>T READ-US 22 19363238 19363238 single base substitution G A missense_variant A520V 1559C>T READ-US 22 19363238 19363238 single base substitution G A missense_variant A564V 1691C>T READ-US 22 19365469 19365469 single base substitution G A synonymous_variant F468F 1404C>T READ-US 22 19365469 19365469 single base substitution G A synonymous_variant F512F 1536C>T RECA-EU 22 19314924 19314924 single base substitution G C downstream_gene_variant RECA-EU 22 19316339 19316339 single base substitution C A downstream_gene_variant RECA-EU 22 19325209 19325209 single base substitution G T intron_variant RECA-EU 22 19326521 19326521 single base substitution T A intron_variant RECA-EU 22 19327923 19327923 single base substitution C G intron_variant RECA-EU 22 19328097 19328097 single base substitution A G intron_variant RECA-EU 22 19329312 19329312 single base substitution C A intron_variant RECA-EU 22 19366202 19366202 single base substitution G C intron_variant RECA-EU 22 19372517 19372517 single base substitution T G intron_variant RECA-EU 22 19372591 19372591 single base substitution C A intron_variant RECA-EU 22 19383582 19383582 single base substitution C A downstream_gene_variant RECA-EU 22 19383582 19383582 single base substitution C A intron_variant RECA-EU 22 19388027 19388027 single base substitution T C intron_variant RECA-EU 22 19394666 19394666 single base substitution C T intron_variant RECA-EU 22 19417759 19417759 single base substitution G A exon_variant RECA-EU 22 19417759 19417759 single base substitution G A intron_variant RECA-EU 22 19418190 19418190 single base substitution C G intron_variant RECA-EU 22 19418190 19418190 single base substitution C G upstream_gene_variant RECA-EU 22 19435935 19435935 single base substitution A G upstream_gene_variant SKCA-BR 22 19316572 19316573 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 22 19316641 19316641 single base substitution G A downstream_gene_variant SKCA-BR 22 19319258 19319258 single base substitution T G intron_variant SKCA-BR 22 19319284 19319284 single base substitution A G intron_variant SKCA-BR 22 19320345 19320345 single base substitution T A intron_variant SKCA-BR 22 19321767 19321767 single base substitution G A intron_variant SKCA-BR 22 19327938 19327938 single base substitution C T intron_variant SKCA-BR 22 19330368 19330368 single base substitution C T intron_variant SKCA-BR 22 19331651 19331651 single base substitution G A intron_variant SKCA-BR 22 19333252 19333252 single base substitution C T intron_variant SKCA-BR 22 19334372 19334372 single base substitution G A downstream_gene_variant SKCA-BR 22 19334372 19334372 single base substitution G A intron_variant SKCA-BR 22 19335208 19335208 single base substitution T C downstream_gene_variant SKCA-BR 22 19335208 19335208 single base substitution T C intron_variant SKCA-BR 22 19335286 19335286 single base substitution A C downstream_gene_variant SKCA-BR 22 19335286 19335286 single base substitution A C intron_variant SKCA-BR 22 19336023 19336023 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 22 19336023 19336023 insertion of <=200bp - AT intron_variant SKCA-BR 22 19337535 19337535 single base substitution G A downstream_gene_variant SKCA-BR 22 19337535 19337535 single base substitution G A intron_variant SKCA-BR 22 19340496 19340496 single base substitution G A intron_variant SKCA-BR 22 19341012 19341012 single base substitution G A 3_prime_UTR_variant SKCA-BR 22 19341012 19341012 single base substitution G A synonymous_variant S698S 2094C>T SKCA-BR 22 19341012 19341012 single base substitution G A synonymous_variant S861S 2583C>T SKCA-BR 22 19341012 19341012 single base substitution G A synonymous_variant S905S 2715C>T SKCA-BR 22 19341488 19341488 single base substitution G A intron_variant SKCA-BR 22 19346214 19346214 single base substitution G C intron_variant SKCA-BR 22 19346557 19346557 single base substitution G A intron_variant SKCA-BR 22 19347306 19347306 single base substitution A C intron_variant SKCA-BR 22 19352545 19352545 single base substitution A C intron_variant SKCA-BR 22 19355079 19355079 single base substitution G A intron_variant SKCA-BR 22 19355329 19355329 single base substitution G A intron_variant SKCA-BR 22 19359482 19359482 single base substitution C T intron_variant SKCA-BR 22 19365947 19365947 single base substitution T G intron_variant SKCA-BR 22 19365986 19365986 single base substitution A C intron_variant SKCA-BR 22 19368348 19368348 single base substitution T C intron_variant SKCA-BR 22 19371459 19371459 single base substitution C A intron_variant SKCA-BR 22 19371736 19371736 single base substitution G A intron_variant SKCA-BR 22 19375467 19375467 single base substitution G T intron_variant SKCA-BR 22 19377682 19377682 single base substitution A C intron_variant SKCA-BR 22 19378723 19378723 single base substitution C T intron_variant SKCA-BR 22 19380714 19380714 single base substitution A C downstream_gene_variant SKCA-BR 22 19380714 19380714 single base substitution A C intron_variant SKCA-BR 22 19384485 19384485 single base substitution G A downstream_gene_variant SKCA-BR 22 19384485 19384485 single base substitution G A intron_variant SKCA-BR 22 19388071 19388071 single base substitution C A intron_variant SKCA-BR 22 19393049 19393049 single base substitution G A intron_variant SKCA-BR 22 19396811 19396811 insertion of <=200bp - CT intron_variant SKCA-BR 22 19399610 19399610 single base substitution G A intron_variant SKCA-BR 22 19406114 19406114 insertion of <=200bp - CACCA intron_variant SKCA-BR 22 19406448 19406450 deletion of <=200bp AAC - intron_variant SKCA-BR 22 19407985 19407985 insertion of <=200bp - CA intron_variant SKCA-BR 22 19408354 19408354 single base substitution C T intron_variant SKCA-BR 22 19408355 19408355 single base substitution C T intron_variant SKCA-BR 22 19409716 19409726 deletion of <=200bp CATACACATAT - intron_variant SKCA-BR 22 19411033 19411049 deletion of <=200bp CACACACACACACACAT - intron_variant SKCA-BR 22 19411043 19411049 deletion of <=200bp CACACAT - intron_variant SKCA-BR 22 19411045 19411049 deletion of <=200bp CACAT - intron_variant SKCA-BR 22 19412475 19412475 single base substitution C G intron_variant SKCA-BR 22 19412686 19412686 single base substitution G A intron_variant SKCA-BR 22 19416495 19416495 single base substitution C T intron_variant SKCA-BR 22 19419162 19419162 single base substitution T C 5_prime_UTR_variant SKCA-BR 22 19419162 19419162 single base substitution T C intron_variant SKCA-BR 22 19419162 19419162 single base substitution T C upstream_gene_variant SKCA-BR 22 19419382 19419382 single base substitution A G intron_variant SKCA-BR 22 19419382 19419382 single base substitution A G upstream_gene_variant SKCA-BR 22 19421229 19421229 single base substitution G A intron_variant SKCA-BR 22 19421229 19421229 single base substitution G A upstream_gene_variant SKCA-BR 22 19421622 19421622 single base substitution T A intron_variant SKCA-BR 22 19421622 19421622 single base substitution T A upstream_gene_variant SKCA-BR 22 19425109 19425110 deletion of <=200bp AT - intron_variant SKCA-BR 22 19430608 19430608 single base substitution A C intron_variant SKCA-BR 22 19430614 19430614 single base substitution A C intron_variant SKCA-BR 22 19431062 19431062 single base substitution G A intron_variant SKCA-BR 22 19431533 19431533 single base substitution A C intron_variant SKCA-BR 22 19436092 19436093 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 22 19438643 19438643 insertion of <=200bp - CA upstream_gene_variant SKCM-US 22 19319022 19319022 single base substitution G A stop_gained R792* 2374C>T SKCM-US 22 19319022 19319022 single base substitution G A stop_gained R955* 2863C>T SKCM-US 22 19319022 19319022 single base substitution G A stop_gained R999* 2995C>T SKCM-US 22 19319035 19319035 single base substitution G A synonymous_variant I787I 2361C>T SKCM-US 22 19319035 19319035 single base substitution G A synonymous_variant I950I 2850C>T SKCM-US 22 19319035 19319035 single base substitution G A synonymous_variant I994I 2982C>T SKCM-US 22 19341013 19341013 single base substitution G A 3_prime_UTR_variant SKCM-US 22 19341013 19341013 single base substitution G A missense_variant S698F 2093C>T SKCM-US 22 19341013 19341013 single base substitution G A missense_variant S861F 2582C>T SKCM-US 22 19341013 19341013 single base substitution G A missense_variant S905F 2714C>T SKCM-US 22 19344421 19344421 single base substitution G A intron_variant SKCM-US 22 19344421 19344421 single base substitution G A synonymous_variant L752L 2256C>T SKCM-US 22 19344421 19344421 single base substitution G A synonymous_variant L796L 2388C>T SKCM-US 22 19346879 19346879 single base substitution G A intron_variant SKCM-US 22 19346879 19346879 single base substitution G A synonymous_variant I694I 2082C>T SKCM-US 22 19346879 19346879 single base substitution G A synonymous_variant I738I 2214C>T SKCM-US 22 19346936 19346936 single base substitution G A intron_variant SKCM-US 22 19346936 19346936 single base substitution G A synonymous_variant S675S 2025C>T SKCM-US 22 19346936 19346936 single base substitution G A synonymous_variant S719S 2157C>T SKCM-US 22 19348763 19348763 single base substitution G A intron_variant SKCM-US 22 19348763 19348763 single base substitution G A synonymous_variant L650L 1950C>T SKCM-US 22 19348763 19348763 single base substitution G A synonymous_variant L694L 2082C>T SKCM-US 22 19348765 19348765 single base substitution G A intron_variant SKCM-US 22 19348765 19348765 single base substitution G A missense_variant L650F 1948C>T SKCM-US 22 19348765 19348765 single base substitution G A missense_variant L694F 2080C>T SKCM-US 22 19349263 19349263 single base substitution G A intron_variant SKCM-US 22 19349263 19349263 single base substitution G A missense_variant S612F 1835C>T SKCM-US 22 19349263 19349263 single base substitution G A missense_variant S656F 1967C>T SKCM-US 22 19363311 19363311 single base substitution T C missense_variant N496D 1486A>G SKCM-US 22 19363311 19363311 single base substitution T C missense_variant N540D 1618A>G SKCM-US 22 19371175 19371175 single base substitution G A synonymous_variant I417I 1251C>T SKCM-US 22 19371175 19371175 single base substitution G A synonymous_variant I461I 1383C>T SKCM-US 22 19373209 19373209 single base substitution C T synonymous_variant E344E 1032G>A SKCM-US 22 19373209 19373209 single base substitution C T synonymous_variant E388E 1164G>A SKCM-US 22 19375254 19375254 single base substitution G A missense_variant P321S 961C>T SKCM-US 22 19375254 19375254 single base substitution G A missense_variant P365S 1093C>T SKCM-US 22 19375274 19375274 single base substitution G A missense_variant S314F 941C>T SKCM-US 22 19375274 19375274 single base substitution G A missense_variant S358F 1073C>T SKCM-US 22 19379700 19379700 single base substitution T C missense_variant N243S 728A>G SKCM-US 22 19379700 19379700 single base substitution T C missense_variant N287S 860A>G SKCM-US 22 19384447 19384447 single base substitution G A downstream_gene_variant SKCM-US 22 19384447 19384447 single base substitution G A missense_variant H129Y 385C>T SKCM-US 22 19384447 19384447 single base substitution G A missense_variant H173Y 517C>T SKCM-US 22 19384456 19384456 single base substitution G A downstream_gene_variant SKCM-US 22 19384456 19384456 single base substitution G A synonymous_variant L126L 376C>T SKCM-US 22 19384456 19384456 single base substitution G A synonymous_variant L170L 508C>T SKCM-US 22 19385519 19385519 single base substitution G A downstream_gene_variant SKCM-US 22 19385519 19385519 single base substitution G A synonymous_variant F119F 357C>T SKCM-US 22 19385519 19385519 single base substitution G A synonymous_variant F163F 489C>T SKCM-US 22 19393350 19393350 single base substitution T C 3_prime_UTR_variant SKCM-US 22 19393350 19393350 single base substitution T C exon_variant SKCM-US 22 19393350 19393350 single base substitution T C missense_variant E119G 356A>G SKCM-US 22 19393350 19393350 single base substitution T C missense_variant E75G 224A>G SKCM-US 22 19396072 19396072 single base substitution G A 3_prime_UTR_variant SKCM-US 22 19396072 19396072 single base substitution G A exon_variant SKCM-US 22 19396072 19396072 single base substitution G A missense_variant L49F 145C>T SKCM-US 22 19396072 19396072 single base substitution G A missense_variant L5F 13C>T SKCM-US 22 19420819 19420819 single base substitution G A intron_variant SKCM-US 22 19420819 19420819 single base substitution G A upstream_gene_variant SKCM-US 22 19423218 19423218 single base substitution G A intron_variant SKCM-US 22 19423218 19423218 single base substitution G A upstream_gene_variant STAD-US 22 19319037 19319037 single base substitution T C missense_variant I787V 2359A>G STAD-US 22 19319037 19319037 single base substitution T C missense_variant I950V 2848A>G STAD-US 22 19319037 19319037 single base substitution T C missense_variant I994V 2980A>G STAD-US 22 19340920 19340920 single base substitution C T 3_prime_UTR_variant STAD-US 22 19340920 19340920 single base substitution C T missense_variant R729H 2186G>A STAD-US 22 19340920 19340920 single base substitution C T missense_variant R892H 2675G>A STAD-US 22 19340920 19340920 single base substitution C T missense_variant R936H 2807G>A STAD-US 22 19341012 19341012 single base substitution G A 3_prime_UTR_variant STAD-US 22 19341012 19341012 single base substitution G A synonymous_variant S698S 2094C>T STAD-US 22 19341012 19341012 single base substitution G A synonymous_variant S861S 2583C>T STAD-US 22 19341012 19341012 single base substitution G A synonymous_variant S905S 2715C>T STAD-US 22 19341023 19341023 single base substitution G C 3_prime_UTR_variant STAD-US 22 19341023 19341023 single base substitution G C missense_variant R695G 2083C>G STAD-US 22 19341023 19341023 single base substitution G C missense_variant R858G 2572C>G STAD-US 22 19341023 19341023 single base substitution G C missense_variant R902G 2704C>G STAD-US 22 19341549 19341549 single base substitution G A missense_variant P678L 2033C>T STAD-US 22 19341549 19341549 single base substitution G A missense_variant P841L 2522C>T STAD-US 22 19341549 19341549 single base substitution G A missense_variant P885L 2654C>T STAD-US 22 19341549 19341549 single base substitution G A missense_variant R806C 2416C>T STAD-US 22 19344515 19344515 single base substitution C T intron_variant STAD-US 22 19344515 19344515 single base substitution C T missense_variant R721H 2162G>A STAD-US 22 19344515 19344515 single base substitution C T missense_variant R765H 2294G>A STAD-US 22 19346867 19346867 single base substitution C T intron_variant STAD-US 22 19346867 19346867 single base substitution C T synonymous_variant A698A 2094G>A STAD-US 22 19346867 19346867 single base substitution C T synonymous_variant A742A 2226G>A STAD-US 22 19349416 19349416 single base substitution C T intron_variant STAD-US 22 19349416 19349416 single base substitution C T missense_variant R561Q 1682G>A STAD-US 22 19349416 19349416 single base substitution C T missense_variant R605Q 1814G>A STAD-US 22 19363188 19363188 single base substitution C A missense_variant A537S 1609G>T STAD-US 22 19363188 19363188 single base substitution C A missense_variant A581S 1741G>T STAD-US 22 19363240 19363240 single base substitution T C synonymous_variant K519K 1557A>G STAD-US 22 19363240 19363240 single base substitution T C synonymous_variant K563K 1689A>G STAD-US 22 19371200 19371200 single base substitution C T missense_variant R409Q 1226G>A STAD-US 22 19371200 19371200 single base substitution C T missense_variant R453Q 1358G>A STAD-US 22 19379688 19379688 single base substitution G A missense_variant A247V 740C>T STAD-US 22 19379688 19379688 single base substitution G A missense_variant A291V 872C>T STAD-US 22 19381879 19381879 single base substitution C T downstream_gene_variant STAD-US 22 19381879 19381879 single base substitution C T missense_variant A226T 676G>A STAD-US 22 19381879 19381879 single base substitution C T missense_variant A270T 808G>A STAD-US 22 19396041 19396041 single base substitution A T 3_prime_UTR_variant STAD-US 22 19396041 19396041 single base substitution A T exon_variant STAD-US 22 19396041 19396041 single base substitution A T missense_variant I15N 44T>A STAD-US 22 19396041 19396041 single base substitution A T missense_variant I59N 176T>A STAD-US 22 19396104 19396104 single base substitution C A 5_prime_UTR_variant STAD-US 22 19396104 19396104 single base substitution C A exon_variant STAD-US 22 19396104 19396104 single base substitution C A missense_variant G38V 113G>T STAD-US 22 19398237 19398237 single base substitution A G splice_donor_variant STAD-US 22 19398267 19398267 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 22 19398267 19398267 single base substitution G A exon_variant STAD-US 22 19398267 19398267 single base substitution G A synonymous_variant D24D 72C>T STAD-US 22 19420868 19420868 single base substitution T C intron_variant STAD-US 22 19420868 19420868 single base substitution T C upstream_gene_variant STAD-US 22 19438229 19438229 single base substitution T C upstream_gene_variant THCA-SA 22 19341001 19341003 deletion of <=200bp ACA - 3_prime_UTR_variant THCA-SA 22 19341001 19341003 deletion of <=200bp ACA - disruptive_inframe_deletion HV701Q THCA-SA 22 19341001 19341003 deletion of <=200bp ACA - disruptive_inframe_deletion HV864Q THCA-SA 22 19341001 19341003 deletion of <=200bp ACA - disruptive_inframe_deletion HV908Q THCA-SA 22 19420109 19420109 single base substitution T C intron_variant THCA-SA 22 19420109 19420109 single base substitution T C upstream_gene_variant THCA-SA 22 19423250 19423250 single base substitution G A intron_variant THCA-SA 22 19423250 19423250 single base substitution G A upstream_gene_variant THCA-SA 22 19435267 19435267 single base substitution G A upstream_gene_variant UCEC-US 22 19319018 19319018 single base substitution A C missense_variant F1000C 2999T>G UCEC-US 22 19319018 19319018 single base substitution A C missense_variant F793C 2378T>G UCEC-US 22 19319018 19319018 single base substitution A C missense_variant F956C 2867T>G UCEC-US 22 19340907 19340907 single base substitution G A 3_prime_UTR_variant UCEC-US 22 19340907 19340907 single base substitution G A synonymous_variant L733L 2199C>T UCEC-US 22 19340907 19340907 single base substitution G A synonymous_variant L896L 2688C>T UCEC-US 22 19340907 19340907 single base substitution G A synonymous_variant L940L 2820C>T UCEC-US 22 19343791 19343791 single base substitution A C missense_variant V599G 1796T>G UCEC-US 22 19343791 19343791 single base substitution A C missense_variant V762G 2285T>G UCEC-US 22 19343791 19343791 single base substitution A C missense_variant V806G 2417T>G UCEC-US 22 19344540 19344540 single base substitution G A intron_variant UCEC-US 22 19344540 19344540 single base substitution G A synonymous_variant L713L 2137C>T UCEC-US 22 19344540 19344540 single base substitution G A synonymous_variant L757L 2269C>T UCEC-US 22 19349269 19349269 single base substitution G T intron_variant UCEC-US 22 19349269 19349269 single base substitution G T missense_variant P610H 1829C>A UCEC-US 22 19349269 19349269 single base substitution G T missense_variant P654H 1961C>A UCEC-US 22 19349398 19349398 single base substitution C T intron_variant UCEC-US 22 19349398 19349398 single base substitution C T missense_variant S567N 1700G>A UCEC-US 22 19349398 19349398 single base substitution C T missense_variant S611N 1832G>A UCEC-US 22 19363252 19363252 single base substitution G A synonymous_variant I515I 1545C>T UCEC-US 22 19363252 19363252 single base substitution G A synonymous_variant I559I 1677C>T UCEC-US 22 19365412 19365412 single base substitution G A synonymous_variant G487G 1461C>T UCEC-US 22 19365412 19365412 single base substitution G A synonymous_variant G531G 1593C>T UCEC-US 22 19365551 19365551 single base substitution G A missense_variant S441L 1322C>T UCEC-US 22 19365551 19365551 single base substitution G A missense_variant S485L 1454C>T UCEC-US 22 19373148 19373148 single base substitution G A stop_gained Q365* 1093C>T UCEC-US 22 19373148 19373148 single base substitution G A stop_gained Q409* 1225C>T UCEC-US 22 19379724 19379724 single base substitution T A missense_variant K235I 704A>T UCEC-US 22 19379724 19379724 single base substitution T A missense_variant K279I 836A>T UCEC-US 22 19393342 19393342 single base substitution G A 3_prime_UTR_variant UCEC-US 22 19393342 19393342 single base substitution G A exon_variant UCEC-US 22 19393342 19393342 single base substitution G A missense_variant R122W 364C>T UCEC-US 22 19393342 19393342 single base substitution G A missense_variant R78W 232C>T UCEC-US 22 19396040 19396040 single base substitution A T 3_prime_UTR_variant UCEC-US 22 19396040 19396040 single base substitution A T exon_variant UCEC-US 22 19396040 19396040 single base substitution A T synonymous_variant I15I 45T>A UCEC-US 22 19396040 19396040 single base substitution A T synonymous_variant I59I 177T>A UCEC-US 22 19422320 19422320 single base substitution C T intron_variant UCEC-US 22 19422320 19422320 single base substitution C T upstream_gene_variant UCEC-US 22 19422393 19422393 single base substitution C A intron_variant UCEC-US 22 19422393 19422393 single base substitution C A upstream_gene_variant UCEC-US 22 19423197 19423197 single base substitution T C intron_variant UCEC-US 22 19423197 19423197 single base substitution T C upstream_gene_variant UCEC-US 22 19431873 19431873 single base substitution G T intron_variant UCEC-US 22 19431891 19431891 single base substitution C T intron_variant UCEC-US 22 19438243 19438243 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 8665_CLM COSM3842183 c.302C>T p.T101M Substitution - Missense 22:19407184-19407184 - CSCC-31-T COSM4466943 c.1461C>T p.S487S Substitution - coding silent 22:19378021-19378021 - TCGA-EB-A3XC-01 COSM3552171 c.860A>G p.N287S Substitution - Missense 22:19392177-19392177 - ESCC-190T COSM3939559 c.1090G>A p.D364N Substitution - Missense 22:19387734-19387734 - TCGA-D5-6541-01 COSM1414878 c.1183G>A p.V395I Substitution - Missense 22:19385667-19385667 - TCGA-A6-A566-01 COSM5096212 c.1372C>T p.R458W Substitution - Missense 22:19383663-19383663 - WA16 COSM240113 c.343C>A p.L115I Substitution - Missense 22:19405840-19405840 - 1_RESISTANT COSM1721244 c.212-9delT p.? Unknown 22:19407283-19407283 - TCGA-FS-A1ZA-06 COSM1714143 c.145C>T p.L49F Substitution - Missense 22:19408549-19408549 - TCGA-18-4721-01 COSM725613 c.1383C>A p.I461I Substitution - coding silent 22:19383652-19383652 - 545 COSM5612840 c.2238C>T p.D746D Substitution - coding silent 22:19357048-19357048 - TCGA-NH-A5IV-01 COSM5183627 c.2684+8A>G p.? Unknown 22:19353988-19353988 - Pat_41_B COSM5858906 c.242G>A p.S81N Substitution - Missense 22:19407244-19407244 - TCGA-AA-3663-01 COSM5101270 c.431C>T p.A144V Substitution - Missense 22:19398054-19398054 - H1155 COSM1196098 c.1999G>A p.A667T Substitution - Missense 22:19361323-19361323 - TCGA-DC-6682-01 COSM1566008 c.1714C>T p.R572W Substitution - Missense 22:19375692-19375692 - TCGA-BH-A2L8-01 COSM3842182 c.2163G>A p.L721L Substitution - coding silent 22:19359407-19359407 - SW1222 COSM4654843 c.2887C>T p.L963L Substitution - coding silent 22:19351408-19351408 - CSCC-38-T COSM4468219 c.1532C>T p.S511F Substitution - Missense 22:19377950-19377950 - BCM759T COSM4956702 c.283A>G p.M95V Substitution - Missense 22:19407203-19407203 - TCGA-29-1702-01 COSM1327333 c.2606A>T p.D869V Substitution - Missense 22:19354074-19354074 - TCGA-39-5037-01 COSM725608 c.229C>T p.R77W Substitution - Missense 22:19407257-19407257 - 223 COSM4403867 c.2082C>T p.L694L Substitution - coding silent 22:19361240-19361240 - 8665_PT COSM3842183 c.302C>T p.T101M Substitution - Missense 22:19407184-19407184 - CSCC-47-T COSM4569870 c.2111T>C p.I704T Substitution - Missense 22:19359459-19359459 - TCGA-CZ-5469-01 COSM478727 c.1035A>G p.V345V Substitution - coding silent 22:19387789-19387789 - RKO COSM4648513 c.985A>T p.K329* Substitution - Nonsense 22:19388506-19388506 - TCGA-BG-A0VX-01 COSM1032082 c.2688G>A p.S896S Substitution - coding silent 22:19353516-19353516 - TCGA-G2-A3IB-01 COSM1307946 c.397G>A p.D133N Substitution - Missense 22:19405786-19405786 - N744T COSM236450 c.153G>T p.E51D Substitution - Missense 22:19408541-19408541 - TCGA-A2-A0T3-01 COSM444698 c.2034A>G p.A678A Substitution - coding silent 22:19361288-19361288 - PCA89-1 COSM5415524 c.400G>A p.V134M Substitution - Missense 22:19398085-19398085 - TCGA-DK-A1AC-01 COSM1307947 c.12G>A p.L4L Substitution - coding silent 22:19431465-19431465 - PTC_285 COSM5959115 c.2724_2726delTGT p.H908_V909>Q Complex - deletion inframe 22:19353478-19353480 - TCGA-BR-4368-01 COSM4102563 c.2980A>G p.I994V Substitution - Missense 22:19331514-19331514 - TCGA-60-2698-01 COSM725611 c.639C>G p.T213T Substitution - coding silent 22:19396802-19396802 - T3225 COSM1032090 c.1225C>T p.Q409* Substitution - Nonsense 22:19385625-19385625 - TCGA-B5-A0JY-01 COSM1032091 c.836A>T p.K279I Substitution - Missense 22:19392201-19392201 - Gp2D COSM4627986 c.42G>A p.K14K Substitution - coding silent 22:19410774-19410774 - T3724 COSM4690380 c.2263_2264insA p.R755fs*67 Insertion - Frameshift 22:19357022-19357023 - CLL068 COSM1291216 c.396C>T p.G132G Substitution - coding silent 22:19405787-19405787 - TCGA-CK-4951-01 COSM5151182 c.1139G>A p.G380D Substitution - Missense 22:19385711-19385711 - TCGA-BR-4368-01 COSM4102572 c.1358G>A p.R453Q Substitution - Missense 22:19383677-19383677 - TCGA-FS-A1Z3-06 COSM725610 c.517C>T p.H173Y Substitution - Missense 22:19396924-19396924 - LP6005500-DNA_A01 COSM4413630 c.628A>G p.T210A Substitution - Missense 22:19396813-19396813 - pfg316T COSM4750757 c.1250G>C p.S417T Substitution - Missense 22:19385600-19385600 - AOCS-155-3-5 COSM4137319 c.2938G>T p.G980C Substitution - Missense 22:19331556-19331556 - CHC1154T COSM4952113 c.405G>T p.M135I Substitution - Missense 22:19398080-19398080 - TCGA-BR-4292-01 COSM4102573 c.872C>T p.A291V Substitution - Missense 22:19392165-19392165 - S0078 COSM5883655 c.2468C>T p.T823M Substitution - Missense 22:19355853-19355853 - TCGA-AA-A00N-01 COSM275467 c.84C>T p.F28F Substitution - coding silent 22:19410732-19410732 - TCGA-D3-A51T-06 COSM3552160 c.2995C>T p.R999* Substitution - Nonsense 22:19331499-19331499 - T3024 COSM4690379 c.2532G>A p.A844A Substitution - coding silent 22:19355789-19355789 - LIM2551 COSM4613958 c.848delA p.K283fs*34 Deletion - Frameshift 22:19392189-19392189 - TCGA-BR-4184-01 COSM2892228 c.2226G>A p.A742A Substitution - coding silent 22:19359344-19359344 - TCGA-B5-A0JV-01 COSM1032093 c.364C>T p.R122W Substitution - Missense 22:19405819-19405819 - PD4613a COSM5768435 c.694C>T p.P232S Substitution - Missense 22:19394470-19394470 - Pat_26_A COSM5858904 c.1102G>A p.E368K Substitution - Missense 22:19387722-19387722 - HT115 COSM2892232 c.1933C>T p.R645W Substitution - Missense 22:19361774-19361774 - TCGA-EI-6917-01 COSM3424031 c.1691C>T p.A564V Substitution - Missense 22:19375715-19375715 - BD124T COSM1714142 c.1466C>T p.A489V Substitution - Missense 22:19378016-19378016 - T3188 COSM4690382 c.1744C>T p.L582L Substitution - coding silent 22:19375662-19375662 - LUAD-F00282 COSM367314 c.2739G>A p.E913E Substitution - coding silent 22:19353465-19353465 - TCGA-DR-A0ZM-01 COSM461161 c.1846G>C p.E616Q Substitution - Missense 22:19361861-19361861 - TCGA-B5-A0JY-01 COSM1032080 c.2999T>G p.F1000C Substitution - Missense 22:19331495-19331495 - TCGA-BS-A0TA-01 COSM1032094 c.177T>A p.I59I Substitution - coding silent 22:19408517-19408517 - B109 COSM1751717 c.1206C>G p.L402L Substitution - coding silent 22:19385644-19385644 - S02243 COSM5677835 c.1715G>C p.R572P Substitution - Missense 22:19375691-19375691 - TCGA-EE-A29D-06 COSM3552173 c.489C>T p.F163F Substitution - coding silent 22:19397996-19397996 - TCGA-06-0877-01 COSM3748163 c.3021T>C p.C1007C Substitution - coding silent 22:19331473-19331473 - TCGA-EE-A29M-06 COSM3552164 c.2214C>T p.I738I Substitution - coding silent 22:19359356-19359356 - S01563 COSM311780 c.2909C>G p.T970S Substitution - Missense 22:19351386-19351386 - 7 COSM327445 c.2396+1G>A p.? Unknown 22:19356889-19356889 - TCGA-BR-6452-01 COSM4102567 c.2654C>T p.P885L Substitution - Missense 22:19354026-19354026 - YUKRIN COSM1714142 c.1466C>T p.A489V Substitution - Missense 22:19378016-19378016 - SH-0622 COSM5019025 c.1926_1928delGAA p.K643delK Deletion - In frame 22:19361779-19361781 - Pat_53_B COSM2892236 c.1715G>A p.R572Q Substitution - Missense 22:19375691-19375691 - T2769 COSM2892256 c.764G>A p.R255Q Substitution - Missense 22:19394400-19394400 - 30996 COSM5043882 c.518A>G p.H173R Substitution - Missense 22:19396923-19396923 - SNU-175 COSM2892233 c.1842C>T p.S614S Substitution - coding silent 22:19361865-19361865 - SNU-175 COSM2892210 c.2618G>A p.S873N Substitution - Missense 22:19354062-19354062 - PCA78-1 COSM5046359 c.451G>A p.V151M Substitution - Missense 22:19398034-19398034 - LS411 COSM2892261 c.262G>A p.G88R Substitution - Missense 22:19407224-19407224 - T3090 COSM4690381 c.2144delG p.G715fs*2 Deletion - Frameshift 22:19359426-19359426 - TCGA-60-2698-01 COSM725612 c.1374G>A p.R458R Substitution - coding silent 22:19383661-19383661 - CHC1154T COSM4952113 c.405G>T p.M135I Substitution - Missense 22:19398080-19398080 - TCGA-AD-6964-01 COSM1414871 c.2264G>A p.R755K Substitution - Missense 22:19357022-19357022 - TCGA-A6-A565-01 COSM725608 c.229C>T p.R77W Substitution - Missense 22:19407257-19407257 - HCC4T COSM1616232 c.1330-9C>T p.? Unknown 22:19383714-19383714 - TCGA-AP-A0LM-01 COSM1032088 c.1593C>T p.G531G Substitution - coding silent 22:19377889-19377889 - YUPAT COSM1714141 c.2800G>A p.E934K Substitution - Missense 22:19353404-19353404 - PCA89-2 COSM5415524 c.400G>A p.V134M Substitution - Missense 22:19398085-19398085 - OSCC-GB_00500111 COSM3713613 c.2448C>T p.I816I Substitution - coding silent 22:19356237-19356237 - 587220 COSM1209693 c.1214A>C p.Q405P Substitution - Missense 22:19385636-19385636 - DN14041 COSM5960706 c.454G>C p.D152H Substitution - Missense 22:19398031-19398031 - RKO COSM2892202 c.2859C>T p.Y953Y Substitution - coding silent 22:19351436-19351436 - PCSI_0529_Pa_P_526 COSM5761249 c.596A>G p.K199R Substitution - Missense 22:19396845-19396845 - 8012346 COSM3390089 c.350A>G p.N117S Substitution - Missense 22:19405833-19405833 - ESCC-148T COSM3939558 c.2273C>T p.S758L Substitution - Missense 22:19357013-19357013 - S01563 COSM311780 c.2909C>G p.T970S Substitution - Missense 22:19351386-19351386 - TCGA-EE-A3AF-06 COSM3552163 c.2388C>T p.L796L Substitution - coding silent 22:19356898-19356898 - TCGA-09-1669-01 COSM77845 c.1269G>C p.M423I Substitution - Missense 22:19385581-19385581 - TCGA-AA-A010-01 COSM281704 c.2085+8C>A p.? Unknown 22:19361229-19361229 - TCGA-D3-A5GO-06 COSM3552161 c.2982C>T p.I994I Substitution - coding silent 22:19331512-19331512 - TCGA-D5-6930-01 COSM1414872 c.2225C>T p.A742V Substitution - Missense 22:19359345-19359345 - D28 COSM5545097 c.1702C>T p.R568W Substitution - Missense 22:19375704-19375704 - CSCC-44-T COSM4506040 c.709C>T p.L237L Substitution - coding silent 22:19394455-19394455 - LUAD-5V8LT COSM402257 c.1903G>C p.V635L Substitution - Missense 22:19361804-19361804 - TCGA-BS-A0UL-01 COSM1032092 c.570T>C p.A190A Substitution - coding silent 22:19396871-19396871 - 587342 COSM1209697 c.1220G>T p.R407M Substitution - Missense 22:19385630-19385630 - BK0059 COSM4188363 c.53C>A p.S18* Substitution - Nonsense 22:19410763-19410763 - HCC056T COSM5816136 c.748G>A p.A250T Substitution - Missense 22:19394416-19394416 - TCGA-BR-4361-01 COSM4102565 c.2715C>T p.S905S Substitution - coding silent 22:19353489-19353489 - TCGA-21-1076-01 COSM725609 c.494-2A>G p.? Unknown 22:19396949-19396949 - ASHPC_0026_Pa_P COSM4962640 c.2850G>T p.G950G Substitution - coding silent 22:19351445-19351445 - LC_C15 COSM1190386 c.662G>A p.G221E Substitution - Missense 22:19394502-19394502 - pfg016T COSM1641491 c.1488_1489delTA p.H496fs*14 Deletion - Frameshift 22:19377993-19377994 - 13280 COSM5617050 c.1008-7C>G p.? Unknown 22:19387823-19387823 - STC252 COSM1714142 c.1466C>T p.A489V Substitution - Missense 22:19378016-19378016 - YUKIL COSM1714143 c.145C>T p.L49F Substitution - Missense 22:19408549-19408549 - LUAD-5V8LT COSM402256 c.2086-1G>T p.? Unknown 22:19359485-19359485 - TCGA-EI-6917-01 COSM3424032 c.1536C>T p.F512F Substitution - coding silent 22:19377946-19377946 - TP_2054 COSM5551091 c.892T>C p.C298R Substitution - Missense 22:19392145-19392145 - TCGA-CG-5728-01 COSM4102574 c.808G>A p.A270T Substitution - Missense 22:19394356-19394356 - TCGA-CG-5726-01 COSM4102577 c.100+2T>C p.? Unknown 22:19410714-19410714 - CSCC-27-T COSM4468219 c.1532C>T p.S511F Substitution - Missense 22:19377950-19377950 - PT49 COSM5936707 c.937-8C>T p.? Unknown 22:19388562-19388562 - SH-0622 COSM391036 c.1235_1237delAGC p.Q412delQ Deletion - In frame 22:19385613-19385615 - TCGA-HU-A4GQ-01 COSM4102575 c.176T>A p.I59N Substitution - Missense 22:19408518-19408518 - TCGA-AP-A051-01 COSM1032085 c.1961C>A p.P654H Substitution - Missense 22:19361746-19361746 - SW480 COSM4655845 c.1811C>T p.P604L Substitution - Missense 22:19361896-19361896 - BD110T COSM5514366 c.2634C>T p.D878D Substitution - coding silent 22:19354046-19354046 - TCGA-AY-6197-01 COSM1414880 c.954G>A p.R318R Substitution - coding silent 22:19388537-19388537 - TCGA-BH-A0E7-01 COSM444700 c.1885C>T p.R629* Substitution - Nonsense 22:19361822-19361822 - TCGA-CA-6718-01 COSM1414881 c.835A>C p.K279Q Substitution - Missense 22:19392202-19392202 - ESCC-D5 COSM5046359 c.451G>A p.V151M Substitution - Missense 22:19398034-19398034 - T2938 COSM4690378 c.2860C>T p.R954* Substitution - Nonsense 22:19351435-19351435 - TCGA-AX-A0J0-01 COSM1032083 c.2417T>G p.V806G Substitution - Missense 22:19356268-19356268 - TARGET-30-PAPTLA COSM1285371 c.1044G>T p.M348I Substitution - Missense 22:19387780-19387780 - T3090 COSM4690377 c.3034G>A p.D1012N Substitution - Missense 22:19331460-19331460 - TCGA-06-5858-01 COSM3405508 c.85G>A p.A29T Substitution - Missense 22:19410731-19410731 - 50T COSM3713613 c.2448C>T p.I816I Substitution - coding silent 22:19356237-19356237 - 585265 COSM320824 c.891C>A p.Y297* Substitution - Nonsense 22:19392146-19392146 - TCGA-BR-8059-01 COSM4102570 c.1741G>T p.A581S Substitution - Missense 22:19375665-19375665 - TCGA-CD-A4MI-01 COSM4102564 c.2807G>A p.R936H Substitution - Missense 22:19353397-19353397 - 8012347 COSM3390089 c.350A>G p.N117S Substitution - Missense 22:19405833-19405833 - T3064 COSM4690383 c.1373G>A p.R458Q Substitution - Missense 22:19383662-19383662 - B74-Tumor COSM1751716 c.1334T>G p.L445R Substitution - Missense 22:19383701-19383701 - TCGA-BR-6566-01 COSM4102578 c.72C>T p.D24D Substitution - coding silent 22:19410744-19410744 - CSB19 COSM5028781 c.531C>T p.V177V Substitution - coding silent 22:19396910-19396910 - TCGA-EA-A6QX-01 COSM4828737 c.1146C>A p.S382R Substitution - Missense 22:19385704-19385704 - ESCC_62 COSM5633133 c.2489C>G p.T830R Substitution - Missense 22:19355832-19355832 - OSCC-GB_00180111 COSM3713653 c.1276G>T p.A426S Substitution - Missense 22:19385574-19385574 - TCGA-D8-A1XQ-01 COSM3842183 c.302C>T p.T101M Substitution - Missense 22:19407184-19407184 - HCT-116 COSM1682100 c.53C>T p.S18L Substitution - Missense 22:19410763-19410763 - 4_RESISTANT COSM1724544 c.212-9_212-8insT p.? Unknown 22:19407282-19407283 - CSCC-35-T COSM4460670 c.1175C>T p.S392F Substitution - Missense 22:19385675-19385675 - KYSE180 COSM2892208 c.2642T>C p.L881P Substitution - Missense 22:19354038-19354038 - 587332 COSM1209695 c.82T>C p.F28L Substitution - Missense 22:19410734-19410734 - T1844 COSM4102578 c.72C>T p.D24D Substitution - coding silent 22:19410744-19410744 - TCGA-D5-6928-01 COSM1414873 c.2071G>A p.A691T Substitution - Missense 22:19361251-19361251 - pfg016T COSM1641490 c.2023_2026delTCTG p.S675fs*6 Deletion - Frameshift 22:19361296-19361299 - TCGA-CM-6171-01 COSM1414882 c.359A>G p.Q120R Substitution - Missense 22:19405824-19405824 - HX13T COSM1616232 c.1330-9C>T p.? Unknown 22:19383714-19383714 - BCM759T COSM4956702 c.283A>G p.M95V Substitution - Missense 22:19407203-19407203 - TCGA-AP-A0LE-01 COSM1032086 c.1832G>A p.S611N Substitution - Missense 22:19361875-19361875 - 1517_PT COSM5755705 c.2463T>A p.D821E Substitution - Missense 22:19355858-19355858 - TCGA-D9-A6EC-06 COSM4403867 c.2082C>T p.L694L Substitution - coding silent 22:19361240-19361240 - TCGA-43-5668-01 COSM725610 c.517C>T p.H173Y Substitution - Missense 22:19396924-19396924 - BD57T COSM4102565 c.2715C>T p.S905S Substitution - coding silent 22:19353489-19353489 - B74 COSM1751716 c.1334T>G p.L445R Substitution - Missense 22:19383701-19383701 - ESCC-F15 COSM5047197 c.1382T>C p.I461T Substitution - Missense 22:19383653-19383653 - DLD1 COSM4624576 c.2679C>A p.T893T Substitution - coding silent 22:19354001-19354001 - TCGA-A5-A0G9-01 COSM1032089 c.1454C>T p.S485L Substitution - Missense 22:19378028-19378028 - TCGA-D5-6530-01 COSM5162765 c.1744C>A p.L582M Substitution - Missense 22:19375662-19375662 - SS6003115 COSM2892241 c.1544C>T p.S515L Substitution - Missense 22:19377938-19377938 - HCC4 COSM1616232 c.1330-9C>T p.? Unknown 22:19383714-19383714 - Pat_58_B COSM5858905 c.1033G>T p.V345L Substitution - Missense 22:19387791-19387791 - TCGA-A5-A0GH-01 COSM1032090 c.1225C>T p.Q409* Substitution - Nonsense 22:19385625-19385625 - 1N30-VS-1T30 COSM1714141 c.2800G>A p.E934K Substitution - Missense 22:19353404-19353404 - LUAD-B00523 COSM405242 c.1235_1238delAGCT p.Q412fs*34 Deletion - Frameshift 22:19385612-19385615 - TCGA-EE-A2MR-06 COSM3552165 c.2157C>T p.S719S Substitution - coding silent 22:19359413-19359413 - AD10 COSM5966188 c.2821G>T p.V941F Substitution - Missense 22:19353383-19353383 - 587278 COSM1209694 c.1690G>A p.A564T Substitution - Missense 22:19375716-19375716 - pfg016T COSM725608 c.229C>T p.R77W Substitution - Missense 22:19407257-19407257 - PT27 COSM5906152 c.1008-7C>T p.? Unknown 22:19387823-19387823 - V-PH-05T COSM4770316 c.2705G>A p.R902Q Substitution - Missense 22:19353499-19353499 - TCGA-B6-A0RU-01 COSM444699 c.1935G>A p.R645R Substitution - coding silent 22:19361772-19361772 - 2984_T COSM3964091 c.1468G>A p.G490S Substitution - Missense 22:19378014-19378014 - TCGA-61-2110-01 COSM115956 c.2766G>T p.Q922H Substitution - Missense 22:19353438-19353438 - CADO-ES1 COSM2892253 c.873G>A p.A291A Substitution - coding silent 22:19392164-19392164 - STC291 COSM3552161 c.2982C>T p.I994I Substitution - coding silent 22:19331512-19331512 - TCGA-AZ-4615-01 COSM5140035 c.2623C>T p.P875S Substitution - Missense 22:19354057-19354057 - 587342 COSM1209696 c.3002A>G p.Q1001R Substitution - Missense 22:19331492-19331492 - TCGA-AY-6197-01 COSM1414876 c.1237_1238insAGC p.Q412_L413insQ Insertion - In frame 22:19385612-19385613 - TCGA-AN-A046-01 COSM3842184 c.160G>A p.E54K Substitution - Missense 22:19408534-19408534 - TCGA-AP-A0LM-01 COSM1032087 c.1677C>T p.I559I Substitution - coding silent 22:19375729-19375729 - GC_315T-GC_315N COSM4773895 c.2521G>A p.D841N Substitution - Missense 22:19355800-19355800 - CSCC-62-T COSM4511721 c.878C>A p.P293H Substitution - Missense 22:19392159-19392159 - LUAD-YINHD COSM350286 c.993C>G p.I331M Substitution - Missense 22:19388498-19388498 - TCGA-EE-A3JI-06 COSM3552169 c.1164G>A p.E388E Substitution - coding silent 22:19385686-19385686 - TCGA-FS-A4FC-06 COSM3552162 c.2714C>T p.S905F Substitution - Missense 22:19353490-19353490 - TCGA-FS-A1ZK-06 COSM3552172 c.508C>T p.L170L Substitution - coding silent 22:19396933-19396933 - TCGA-EE-A2GO-06 COSM3552167 c.1967C>T p.S656F Substitution - Missense 22:19361740-19361740 - PD11345a COSM5789873 c.2635G>A p.A879T Substitution - Missense 22:19354045-19354045 - CHOL19 COSM1743496 c.2210G>A p.R737Q Substitution - Missense 22:19359360-19359360 - LAU165 COSM233964 c.2086-7C>T p.? Unknown 22:19359491-19359491 - TCGA-D7-8576-01 COSM4102566 c.2704C>G p.R902G Substitution - Missense 22:19353500-19353500 - T368 COSM4690384 c.924G>A p.S308S Substitution - coding silent 22:19392113-19392113 - BZ12 COSM5758248 c.64C>T p.H22Y Substitution - Missense 22:19410752-19410752 - SWE-39 COSM1179909 c.820G>A p.V274M Substitution - Missense 22:19394344-19394344 - TCGA-AP-A0LM-01 COSM1032081 c.2820C>T p.L940L Substitution - coding silent 22:19353384-19353384 - SC_9081 COSM5552392 c.1843G>A p.D615N Substitution - Missense 22:19361864-19361864 - LUAD-B00523 COSM391036 c.1235_1237delAGC p.Q412delQ Deletion - In frame 22:19385613-19385615 - TCGA-AZ-4315-01 COSM1414877 c.1216C>T p.R406* Substitution - Nonsense 22:19385634-19385634 - HCC2998 COSM275467 c.84C>T p.F28F Substitution - coding silent 22:19410732-19410732 - TCGA-A2-A0YK-01 COSM444697 c.2333C>G p.S778C Substitution - Missense 22:19356953-19356953 - YUOMEGA COSM1032087 c.1677C>T p.I559I Substitution - coding silent 22:19375729-19375729 - LUAD-S01345 COSM397148 c.574C>G p.Q192E Substitution - Missense 22:19396867-19396867 - U343 COSM5712967 c.2619C>G p.S873R Substitution - Missense 22:19354061-19354061 - PD4004a COSM161528 c.760G>T p.E254* Substitution - Nonsense 22:19394404-19394404 - DN120A6 COSM5789873 c.2635G>A p.A879T Substitution - Missense 22:19354045-19354045 - TCGA-AN-A046-01 COSM3842181 c.2866C>T p.R956* Substitution - Nonsense 22:19351429-19351429 - HCC093T COSM5810988 c.2026G>A p.A676T Substitution - Missense 22:19361296-19361296 - CHEWS021 COSM4582193 c.988T>G p.S330A Substitution - Missense 22:19388503-19388503 - TARGET-30-PATDWN COSM1285372 c.2171A>C p.N724T Substitution - Missense 22:19359399-19359399 - TCGA-EE-A2GR-06 COSM3552168 c.1383C>T p.I461I Substitution - coding silent 22:19383652-19383652 - TCGA-H4-A2HQ-01 COSM1307945 c.494-1G>A p.? Unknown 22:19396948-19396948 - BK0094 COSM4188887 c.1178C>T p.T393I Substitution - Missense 22:19385672-19385672 - pfg017T COSM1641492 c.212-8_212-7insT p.? Unknown 22:19407281-19407282 - TCGA-BR-4188-01 COSM4102569 c.1814G>A p.R605Q Substitution - Missense 22:19361893-19361893 - TCGA-AA-A01P-01 COSM5122301 c.1775+10A>G p.? Unknown 22:19375621-19375621 - TCGA-FW-A3R5-06 COSM3912383 c.1093C>T p.P365S Substitution - Missense 22:19387731-19387731 - 18T COSM3713653 c.1276G>T p.A426S Substitution - Missense 22:19385574-19385574 - CHEWS024 COSM4102569 c.1814G>A p.R605Q Substitution - Missense 22:19361893-19361893 - CSCC-55-T COSM4558385 c.765G>A p.R255R Substitution - coding silent 22:19394399-19394399 - 6115233 COSM5571860 c.226G>T p.V76L Substitution - Missense 22:19407260-19407260 - CSCC-29-T COSM4484055 c.2764C>T p.Q922* Substitution - Nonsense 22:19353440-19353440 - TCGA-D3-A3ML-06 COSM3552174 c.356A>G p.E119G Substitution - Missense 22:19405827-19405827 - LUAD-NYU1051S COSM368817 c.2669A>T p.Q890L Substitution - Missense 22:19354011-19354011 - TCGA-BR-8589-01 COSM4102571 c.1689A>G p.K563K Substitution - coding silent 22:19375717-19375717 - TCGA-DD-A116-01 COSM4912258 c.945T>C p.C315C Substitution - coding silent 22:19388546-19388546 - TCGA-D9-A6EC-06 COSM4402043 c.1618A>G p.N540D Substitution - Missense 22:19375788-19375788 - PA285 COSM1163305 c.1175C>A p.S392Y Substitution - Missense 22:19385675-19385675 - TCGA-EE-A2MS-06 COSM3552166 c.2080C>T p.L694F Substitution - Missense 22:19361242-19361242 - MD-088 COSM302369 c.2737G>T p.E913* Substitution - Nonsense 22:19353467-19353467 - TCGA-32-1991-01 COSM3405507 c.1429G>A p.A477T Substitution - Missense 22:19378053-19378053 - LUAD-CHTN-3090346 COSM356964 c.2280C>T p.F760F Substitution - coding silent 22:19357006-19357006 - 8068608 COSM4135279 c.771A>G p.G257G Substitution - coding silent 22:19394393-19394393 - TCGA-EE-A29M-06 COSM3552170 c.1073C>T p.S358F Substitution - Missense 22:19387751-19387751 - 35M COSM5581309 c.1518C>T p.S506S Substitution - coding silent 22:19377964-19377964 - TCGA-CG-4306-01 COSM4102576 c.113G>T p.G38V Substitution - Missense 22:19408581-19408581 - Pat_44_B COSM5046359 c.451G>A p.V151M Substitution - Missense 22:19398034-19398034 - B109-Tumor COSM1751717 c.1206C>G p.L402L Substitution - coding silent 22:19385644-19385644 - TCGA-AA-A02Y-01 COSM301041 c.1950_1951delTC p.R651fs*54 Deletion - Frameshift 22:19361756-19361757 - K-562 COSM1682099 c.2069G>C p.R690T Substitution - Missense 22:19361253-19361253 - PT21_2 COSM5902168 c.1460C>T p.S487F Substitution - Missense 22:19378022-19378022 - TCGA-P5-A5EZ-01 COSM4420572 c.1560G>C p.E520D Substitution - Missense 22:19377922-19377922 - sysucc-880T COSM1032093 c.364C>T p.R122W Substitution - Missense 22:19405819-19405819 - C135 COSM4618156 c.1257G>A p.A419A Substitution - coding silent 22:19385593-19385593 - TCGA-AX-A0J1-01 COSM1032084 c.2269C>T p.L757L Substitution - coding silent 22:19357017-19357017 - PC-9BRc1 COSM1685065 c.2397G>T p.W799C Substitution - Missense 22:19356288-19356288 - HCC2998 COSM2892241 c.1544C>T p.S515L Substitution - Missense 22:19377938-19377938 - TCGA-BR-A4QL-01 COSM4102568 c.2294G>A p.R765H Substitution - Missense 22:19356992-19356992 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.474206 22q11.21 600237

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.C1007C c.3021T>C 22 19318996 GBM - A IntronicInsertion . c.212-9dupT 22 19394807 STAD A T Synonymous p.I59I c.177T>A 22 19396040 UCEC CAGA - Frameshift p.S675Hfs*6 c.2023_2026delTCTG 22 19348819 STAD C A Missense p.A250S c.748G>T 22 19381939 CM C A Missense p.C1007F c.3020G>T 22 19318997 LUAD C A Missense p.G38V c.113G>T 22 19396104 STAD C A Missense p.M348I c.1044G>T 22 19375303 NB C A Missense p.Q922H c.2766G>T 22 19340961 OV C A Nonsense p.E254* c.760G>T 22 19381927 BRCA CC AA Missense p.G486F c.1456_1457delinsTT 22 19365548 LUAD C - Frameshift p.G715Afs*2 c.2144delG 22 19346949 STAD C G 3-UTRSNV . c.3051+387G>C 22 19318579 HC C G Missense p.A530P c.1588G>C 22 19365417 LUAD C G Missense p.M423I c.1269G>C 22 19373104 OV C T Missense p.A270T c.808G>A 22 19381879 STAD C T Missense p.A477T c.1429G>A 22 19365576 GBM C T Missense p.D133N c.397G>A 22 19393309 BLCA C T Missense p.E731K c.2191G>A 22 19346902 HNSC C T Missense p.R453Q c.1358G>A 22 19371200 STAD C T Missense p.R605Q c.1814G>A 22 19349416 STAD C T Missense p.S611N c.1832G>A 22 19349398 UCEC C T Missense p.V118M c.352G>A 22 19393354 HNSC C T Missense p.V19I c.55G>A 22 19398284 HNSC C T SpliceAcceptorSNV . c.494-1G>A 22 19384471 BLCA C T Synonymous p.E388E c.1164G>A 22 19373209 CM C T Synonymous p.R202R c.606G>A 22 19384358 HNSC C T Synonymous p.R645R c.1935G>A 22 19349295 BRCA GA - Frameshift p.R651Sfs*54 c.1950_1951delTC 22 19349279 COREAD G A Missense p.A291V c.872C>T 22 19379688 STAD G A Missense p.H173Y c.517C>T 22 19384447 CM G A Missense p.H173Y c.517C>T 22 19384447 LUSC G A Missense p.L49F c.145C>T 22 19396072 CM G A Missense p.L694F c.2080C>T 22 19348765 CM G A Missense p.P15L c.44C>T 22 19398295 LUAD G A Missense p.P15S c.43C>T 22 19398296 CM G A Missense p.R122W c.364C>T 22 19393342 UCEC G A Missense p.R77W c.229C>T 22 19394780 LUSC G A Missense p.R77W c.229C>T 22 19394780 STAD G A Missense p.S358F c.1073C>T 22 19375274 CM G A Missense p.S485L c.1454C>T 22 19365551 UCEC G A Missense p.S487F c.1460C>T 22 19365545 CM G A Missense p.S656F c.1967C>T 22 19349263 CM G A Nonsense p.Q409* c.1225C>T 22 19373148 UCEC G A Nonsense p.R629* c.1885C>T 22 19349345 BRCA G A Synonymous p.G132G c.396C>T 22 19393310 CLL G A Synonymous p.I461I c.1383C>T 22 19371175 CM G A Synonymous p.I738I c.2214C>T 22 19346879 CM G A Synonymous p.L170L c.508C>T 22 19384456 CM G A Synonymous p.L488L c.1462C>T 22 19365543 CM G A Synonymous p.L796L c.2388C>T 22 19344421 CM G A Synonymous p.L946L c.2838C>T 22 19340889 HNSC G A Synonymous p.S358S c.1074C>T 22 19375273 CM G A Synonymous p.V177V c.531C>T 22 19384433 BRCA G A Synonymous p.V618V c.1854C>T 22 19349376 CM G C IntronicSNV . c.1008-7C>G 22 19375346 NSCLC G C Missense p.S330C c.989C>G 22 19376025 LUAD G C Missense p.S778C c.2333C>G 22 19344476 BRCA G C Missense p.T970S c.2909C>G 22 19338909 SCLC G T Nonsense p.Y297* c.891C>A 22 19379669 SCLC G T Synonymous p.I461I c.1383C>A 22 19371175 LUSC G T Synonymous p.S761S c.2283C>A 22 19344526 HNSC - GTT IntronicInsertion . c.1416-873_1416-872insACA 22 19366462 CLL TA - Frameshift p.H496Qfs*14 c.1488_1489delTA 22 19365516 STAD T C Missense p.E119G c.356A>G 22 19393350 CM T C Missense p.I994V c.2980A>G 22 19319037 STAD T C Missense p.T542A c.1624A>G 22 19363305 CM T C SpliceAcceptorSNV . c.494-2A>G 22 19384472 LUSC T C Synonymous p.A678A c.2034A>G 22 19348811 BRCA T G Missense p.N724T c.2171A>C 22 19346922 NB