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 4 25419944 25419944 + Silent SNP C C T TCGA-OR-A5K4-01A-11D-A29I-10 TCGA-OR-A5K4-10A-01D-A29L-10 g.chr4:25419944C>T c.2367C>T c.(2365-2367)gcC>gcT p.A789A BLCA 4 25384988 25384988 + Missense_Mutation SNP A A G TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chr4:25384988A>G c.341A>G c.(340-342)cAt>cGt p.H114R BLCA 4 25391770 25391770 + Silent SNP C C T TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr4:25391770C>T c.528C>T c.(526-528)ctC>ctT p.L176L BLCA 4 25391798 25391798 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr4:25391798G>C c.556G>C c.(556-558)Gag>Cag p.E186Q BLCA 4 25393963 25393963 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 g.chr4:25393963G>C c.709G>C c.(709-711)Gaa>Caa p.E237Q BLCA 4 25395483 25395483 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr4:25395483G>C c.846G>C c.(844-846)caG>caC p.Q282H BLCA 4 25415982 25415982 + Missense_Mutation SNP A A G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 g.chr4:25415982A>G c.1660A>G c.(1660-1662)Att>Gtt p.I554V BLCA 4 25417159 25417159 + Missense_Mutation SNP G G C TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr4:25417159G>C c.1898G>C c.(1897-1899)aGa>aCa p.R633T BLCA 4 25419310 25419311 + Frame_Shift_Del DEL TA TA - TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr4:25419310_25419311delTA c.2148_2149delTA c.(2146-2151)agtatgfs p.M717fs BLCA 4 25419344 25419344 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr4:25419344C>T c.2182C>T c.(2182-2184)Cga>Tga p.R728* BRCA 4 25390191 25390191 + Frame_Shift_Del DEL A A - TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr4:25390191delA c.438delA c.(436-438)ccafs p.P146fs BRCA 4 25390489 25390489 + Missense_Mutation SNP T T C TCGA-HN-A2NL-01A-11D-A18P-09 TCGA-HN-A2NL-10A-01D-A18P-09 g.chr4:25390489T>C c.500T>C c.(499-501)cTc>cCc p.L167P BRCA 4 25391815 25391815 + Silent SNP A A G TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr4:25391815A>G c.573A>G c.(571-573)ggA>ggG p.G191G BRCA 4 25395932 25395932 + Splice_Site SNP G G T TCGA-E9-A1NI-01A-11W-A16H-09 TCGA-E9-A1NI-10A-01D-A17G-09 g.chr4:25395932G>T c.877G>T c.(877-879)Gaa>Taa p.E293* BRCA 4 25408876 25408876 + Splice_Site SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 g.chr4:25408876G>T c.e20+1 CHOL 4 25419867 25419867 + Missense_Mutation SNP G G A TCGA-3X-AAVA-01A-11D-A417-09 TCGA-3X-AAVA-10A-01D-A41A-09 g.chr4:25419867G>A c.2290G>A c.(2290-2292)Gcc>Acc p.A764T COAD 4 25379094 25379094 + Silent SNP A A C TCGA-AA-A00K-01A-02W-A005-10 TCGA-AA-A00K-10A-01W-A005-10 g.chr4:25379094A>C c.45A>C c.(43-45)ggA>ggC p.G15G COAD 4 25381999 25381999 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:25381999T>G c.133T>G c.(133-135)Tta>Gta p.L45V COAD 4 25390133 25390133 + Nonsense_Mutation SNP C C A TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr4:25390133C>A c.380C>A c.(379-381)tCa>tAa p.S127* COAD 4 25390357 25390357 + Silent SNP A A G TCGA-A6-2683-01A-01W-0831-10 TCGA-A6-2683-10A-01W-0831-10 g.chr4:25390357A>G c.462A>G c.(460-462)aaA>aaG p.K154K COAD 4 25390358 25390358 + Missense_Mutation SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:25390358A>C c.463A>C c.(463-465)Ata>Cta p.I155L COAD 4 25392590 25392590 + Missense_Mutation SNP G G A TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr4:25392590G>A c.658G>A c.(658-660)Gtc>Atc p.V220I COAD 4 25392590 25392590 + Missense_Mutation SNP G G T TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr4:25392590G>T c.658G>T c.(658-660)Gtc>Ttc p.V220F COAD 4 25392591 25392591 + Missense_Mutation SNP T T C TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr4:25392591T>C c.659T>C c.(658-660)gTc>gCc p.V220A COAD 4 25392591 25392591 + Missense_Mutation SNP T T C TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr4:25392591T>C c.659T>C c.(658-660)gTc>gCc p.V220A COAD 4 25392591 25392591 + Missense_Mutation SNP T T C TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr4:25392591T>C c.659T>C c.(658-660)gTc>gCc p.V220A COAD 4 25417117 25417117 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:25417117A>C c.1856A>C c.(1855-1857)aAa>aCa p.K619T COAD 4 25417155 25417155 + Missense_Mutation SNP A A G TCGA-CM-6676-01A-11D-1835-10 TCGA-CM-6676-10A-01D-1835-10 g.chr4:25417155A>G c.1894A>G c.(1894-1896)Aga>Gga p.R632G COAD 4 25417156 25417156 + Missense_Mutation SNP G G A TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr4:25417156G>A c.1895G>A c.(1894-1896)aGa>aAa p.R632K COAD 4 25419839 25419839 + Silent SNP C C T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr4:25419839C>T c.2262C>T c.(2260-2262)ctC>ctT p.L754L COADREAD 4 25379094 25379094 + Silent SNP A A C TCGA-AA-A00K-01A-02W-A005-10 TCGA-AA-A00K-10A-01W-A005-10 g.chr4:25379094A>C c.45A>C c.(43-45)ggA>ggC p.G15G COADREAD 4 25379130 25379130 + Silent SNP C C T TCGA-AG-3601-01A-01W-0833-10 TCGA-AG-3601-10A-01W-0833-10 g.chr4:25379130C>T c.81C>T c.(79-81)gtC>gtT p.V27V COADREAD 4 25381999 25381999 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:25381999T>G c.133T>G c.(133-135)Tta>Gta p.L45V COADREAD 4 25390133 25390133 + Nonsense_Mutation SNP C C A TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr4:25390133C>A c.380C>A c.(379-381)tCa>tAa p.S127* COADREAD 4 25390357 25390357 + Silent SNP A A G TCGA-A6-2683-01A-01W-0831-10 TCGA-A6-2683-10A-01W-0831-10 g.chr4:25390357A>G c.462A>G c.(460-462)aaA>aaG p.K154K COADREAD 4 25390358 25390358 + Missense_Mutation SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:25390358A>C c.463A>C c.(463-465)Ata>Cta p.I155L COADREAD 4 25392590 25392590 + Missense_Mutation SNP G G A TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr4:25392590G>A c.658G>A c.(658-660)Gtc>Atc p.V220I COADREAD 4 25392590 25392590 + Missense_Mutation SNP G G T TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr4:25392590G>T c.658G>T c.(658-660)Gtc>Ttc p.V220F COADREAD 4 25392591 25392591 + Missense_Mutation SNP T T C TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr4:25392591T>C c.659T>C c.(658-660)gTc>gCc p.V220A COADREAD 4 25392591 25392591 + Missense_Mutation SNP T T C TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr4:25392591T>C c.659T>C c.(658-660)gTc>gCc p.V220A COADREAD 4 25392591 25392591 + Missense_Mutation SNP T T C TCGA-F5-6812-01A-11D-1826-10 TCGA-F5-6812-10A-01D-1826-10 g.chr4:25392591T>C c.659T>C c.(658-660)gTc>gCc p.V220A COADREAD 4 25392591 25392591 + Missense_Mutation SNP T T C TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr4:25392591T>C c.659T>C c.(658-660)gTc>gCc p.V220A COADREAD 4 25404633 25404633 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:25404633C>T c.1255C>T c.(1255-1257)Cgg>Tgg p.R419W COADREAD 4 25416116 25416116 + Missense_Mutation SNP T T A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:25416116T>A c.1714T>A c.(1714-1716)Ttt>Att p.F572I COADREAD 4 25417117 25417117 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:25417117A>C c.1856A>C c.(1855-1857)aAa>aCa p.K619T COADREAD 4 25417155 25417155 + Missense_Mutation SNP A A G TCGA-CM-6676-01A-11D-1835-10 TCGA-CM-6676-10A-01D-1835-10 g.chr4:25417155A>G c.1894A>G c.(1894-1896)Aga>Gga p.R632G COADREAD 4 25417156 25417156 + Missense_Mutation SNP G G A TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr4:25417156G>A c.1895G>A c.(1894-1896)aGa>aAa p.R632K COADREAD 4 25418160 25418160 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:25418160C>A c.2015C>A c.(2014-2016)tCt>tAt p.S672Y COADREAD 4 25419839 25419839 + Silent SNP C C T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr4:25419839C>T c.2262C>T c.(2260-2262)ctC>ctT p.L754L ESCA 4 25394002 25394002 + Missense_Mutation SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 g.chr4:25394002C>T c.748C>T c.(748-750)Cgg>Tgg p.R250W ESCA 4 25419982 25419982 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 g.chr4:25419982T>G c.2405T>G c.(2404-2406)cTt>cGt p.L802R GBM 4 25396471 25396471 + Missense_Mutation SNP G G T TCGA-02-0003-01A-01D-1490-08 TCGA-02-0003-10A-01D-1490-08 g.chr4:25396471G>T c.1005G>T c.(1003-1005)caG>caT p.Q335H GBM 4 25416009 25416009 + Splice_Site SNP T T C TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 g.chr4:25416009T>C c.e23+2 GBMLGG 4 25396471 25396471 + Missense_Mutation SNP G G T TCGA-02-0003-01A-01D-1490-08 TCGA-02-0003-10A-01D-1490-08 g.chr4:25396471G>T c.1005G>T c.(1003-1005)caG>caT p.Q335H GBMLGG 4 25416009 25416009 + Splice_Site SNP T T C TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 g.chr4:25416009T>C c.e23+2 HNSC 4 25390488 25390488 + Missense_Mutation SNP C C G TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 g.chr4:25390488C>G c.499C>G c.(499-501)Ctc>Gtc p.L167V HNSC 4 25395956 25395956 + Missense_Mutation SNP C C A TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 g.chr4:25395956C>A c.901C>A c.(901-903)Caa>Aaa p.Q301K HNSC 4 25418140 25418140 + Silent SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 g.chr4:25418140C>G c.1995C>G c.(1993-1995)ctC>ctG p.L665L KICH 4 25415322 25415322 + Silent SNP G G A TCGA-KL-8335-01A-11D-2310-10 TCGA-KL-8335-11A-01D-2310-10 g.chr4:25415322G>A c.1581G>A c.(1579-1581)agG>agA p.R527R KIPAN 4 25415322 25415322 + Silent SNP G G A TCGA-KL-8335-01A-11D-2310-10 TCGA-KL-8335-11A-01D-2310-10 g.chr4:25415322G>A c.1581G>A c.(1579-1581)agG>agA p.R527R KIPAN 4 25418164 25418164 + Frame_Shift_Del DEL A A - TCGA-B0-4810-01A-01D-1501-10 TCGA-B0-4810-11A-02D-1501-10 g.chr4:25418164delA c.2019delA c.(2017-2019)ttafs p.L673fs KIRC 4 25418164 25418164 + Frame_Shift_Del DEL A A - TCGA-B0-4810-01A-01D-1501-10 TCGA-B0-4810-11A-02D-1501-10 g.chr4:25418164delA c.2019delA c.(2017-2019)ttafs p.L673fs LIHC 4 25390352 25390352 + Missense_Mutation SNP T T C TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr4:25390352T>C c.457T>C c.(457-459)Tca>Cca p.S153P LUAD 4 25382048 25382048 + Missense_Mutation SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 g.chr4:25382048A>G c.182A>G c.(181-183)aAt>aGt p.N61S LUAD 4 25391839 25391839 + Silent SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr4:25391839A>T c.597A>T c.(595-597)acA>acT p.T199T LUAD 4 25394003 25394003 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 g.chr4:25394003G>A c.749G>A c.(748-750)cGg>cAg p.R250Q LUAD 4 25395985 25395985 + Missense_Mutation SNP G G C TCGA-44-7669-01A-21D-2063-08 TCGA-44-7669-10A-01D-2063-08 g.chr4:25395985G>C c.930G>C c.(928-930)tgG>tgC p.W310C LUAD 4 25408818 25408818 + Splice_Site SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 g.chr4:25408818G>T c.e20-1 LUAD 4 25416101 25416101 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chr4:25416101C>T c.1699C>T c.(1699-1701)Cgt>Tgt p.R567C LUAD 4 25417102 25417102 + Missense_Mutation SNP G G T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 g.chr4:25417102G>T c.1841G>T c.(1840-1842)gGa>gTa p.G614V LUSC 4 25391798 25391798 + Nonsense_Mutation SNP G G T TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 g.chr4:25391798G>T c.556G>T c.(556-558)Gag>Tag p.E186* LUSC 4 25416277 25416277 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr4:25416277C>T c.1781C>T c.(1780-1782)tCa>tTa p.S594L LUSC 4 25419243 25419243 + Missense_Mutation SNP A A G TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 g.chr4:25419243A>G c.2081A>G c.(2080-2082)gAt>gGt p.D694G OV 4 25392590 25392590 + Missense_Mutation SNP G G C TCGA-09-2045-01A-01W-0799-08 TCGA-09-2045-11A-01W-0799-08 g.chr4:25392590G>C c.658G>C c.(658-660)Gtc>Ctc p.V220L OV 4 25417157 25417157 + Silent SNP A A G TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 g.chr4:25417157A>G c.1896A>G c.(1894-1896)agA>agG p.R632R PAAD 4 25390499 25390499 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:25390499C>T c.510C>T c.(508-510)gaC>gaT p.D170D PAAD 4 25393972 25393972 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:25393972C>A c.718C>A c.(718-720)Ctg>Atg p.L240M PAAD 4 25395511 25395511 + Nonsense_Mutation SNP C C T TCGA-2L-AAQL-01A-11D-A38G-08 TCGA-2L-AAQL-11A-11D-A38J-08 g.chr4:25395511C>T c.874C>T c.(874-876)Cag>Tag p.Q292* PAAD 4 25418146 25418146 + Silent SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:25418146C>A c.2001C>A c.(1999-2001)gtC>gtA p.V667V PAAD 4 25418162 25418162 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:25418162T>G c.2017T>G c.(2017-2019)Tta>Gta p.L673V PRAD 4 25382011 25382011 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr4:25382011C>T c.145C>T c.(145-147)Ctg>Ttg p.L49L PRAD 4 25393993 25393993 + Nonsense_Mutation SNP G G T TCGA-V1-A8MF-01A-11D-A364-08 TCGA-V1-A8MF-10A-01D-A362-08 g.chr4:25393993G>T c.739G>T c.(739-741)Gaa>Taa p.E247* READ 4 25379130 25379130 + Silent SNP C C T TCGA-AG-3601-01A-01W-0833-10 TCGA-AG-3601-10A-01W-0833-10 g.chr4:25379130C>T c.81C>T c.(79-81)gtC>gtT p.V27V READ 4 25392591 25392591 + Missense_Mutation SNP T T C TCGA-F5-6812-01A-11D-1826-10 TCGA-F5-6812-10A-01D-1826-10 g.chr4:25392591T>C c.659T>C c.(658-660)gTc>gCc p.V220A READ 4 25404633 25404633 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:25404633C>T c.1255C>T c.(1255-1257)Cgg>Tgg p.R419W READ 4 25416116 25416116 + Missense_Mutation SNP T T A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:25416116T>A c.1714T>A c.(1714-1716)Ttt>Att p.F572I READ 4 25418160 25418160 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:25418160C>A c.2015C>A c.(2014-2016)tCt>tAt p.S672Y SARC 4 25384985 25384985 + Missense_Mutation SNP T T A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 g.chr4:25384985T>A c.338T>A c.(337-339)aTg>aAg p.M113K SKCM 4 25379058 25379058 + Frame_Shift_Del DEL T T - TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 g.chr4:25379058delT c.9delT c.(7-9)cgtfs p.R3fs SKCM 4 25379078 25379078 + Missense_Mutation SNP C C T TCGA-D3-A51J-06A-11D-A25O-08 TCGA-D3-A51J-10A-01D-A25O-08 g.chr4:25379078C>T c.29C>T c.(28-30)tCc>tTc p.S10F SKCM 4 25379079 25379079 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr4:25379079C>T c.30C>T c.(28-30)tcC>tcT p.S10S SKCM 4 25379079 25379079 + Silent SNP C C T TCGA-D3-A51J-06A-11D-A25O-08 TCGA-D3-A51J-10A-01D-A25O-08 g.chr4:25379079C>T c.30C>T c.(28-30)tcC>tcT p.S10S SKCM 4 25379079 25379079 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr4:25379079C>T c.30C>T c.(28-30)tcC>tcT p.S10S SKCM 4 25379083 25379083 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr4:25379083C>T c.34C>T c.(34-36)Cgg>Tgg p.R12W SKCM 4 25379139 25379139 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr4:25379139C>T c.90C>T c.(88-90)ccC>ccT p.P30P SKCM 4 25384968 25384968 + Silent SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr4:25384968G>A c.321G>A c.(319-321)gaG>gaA p.E107E SKCM 4 25398357 25398357 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr4:25398357C>T c.1133C>T c.(1132-1134)cCt>cTt p.P378L SKCM 4 25416220 25416220 + Splice_Site SNP G G A TCGA-D3-A5GS-06A-11D-A27K-08 TCGA-D3-A5GS-10A-01D-A27N-08 g.chr4:25416220G>A c.e25-1 SKCM 4 25419792 25419792 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr4:25419792C>T c.2215C>T c.(2215-2217)Cgt>Tgt p.R739C SKCM 4 25419869 25419869 + Silent SNP C C T TCGA-EE-A2MM-06A-11D-A196-08 TCGA-EE-A2MM-10A-01D-A198-08 g.chr4:25419869C>T c.2292C>T c.(2290-2292)gcC>gcT p.A764A

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 4 25384988 25384988 single base substitution A G 3_prime_UTR_variant BLCA-US 4 25384988 25384988 single base substitution A G downstream_gene_variant BLCA-US 4 25384988 25384988 single base substitution A G missense_variant H114R 341A>G BLCA-US 4 25395483 25395483 single base substitution G C downstream_gene_variant BLCA-US 4 25395483 25395483 single base substitution G C exon_variant BLCA-US 4 25395483 25395483 single base substitution G C missense_variant Q282H 846G>C BLCA-US 4 25395483 25395483 single base substitution G C upstream_gene_variant BLCA-US 4 25419344 25419344 single base substitution C T downstream_gene_variant BLCA-US 4 25419344 25419344 single base substitution C T exon_variant BLCA-US 4 25419344 25419344 single base substitution C T stop_gained R728* 2182C>T BLCA-US 4 25419344 25419344 single base substitution C T stop_gained R729* 2185C>T BOCA-UK 4 25419319 25419319 single base substitution A G downstream_gene_variant BOCA-UK 4 25419319 25419319 single base substitution A G exon_variant BOCA-UK 4 25419319 25419319 single base substitution A G synonymous_variant A719A 2157A>G BOCA-UK 4 25419319 25419319 single base substitution A G synonymous_variant A720A 2160A>G BRCA-EU 4 25374136 25374136 single base substitution A G upstream_gene_variant BRCA-EU 4 25374363 25374363 single base substitution C T upstream_gene_variant BRCA-EU 4 25375150 25375150 single base substitution C T upstream_gene_variant BRCA-EU 4 25377687 25377687 single base substitution T G upstream_gene_variant BRCA-EU 4 25380203 25380203 single base substitution G C intron_variant BRCA-EU 4 25381315 25381315 single base substitution G C intron_variant BRCA-EU 4 25381376 25381376 single base substitution G C intron_variant BRCA-EU 4 25383236 25383236 single base substitution C A downstream_gene_variant BRCA-EU 4 25383236 25383236 single base substitution C A intron_variant BRCA-EU 4 25384583 25384583 single base substitution C A downstream_gene_variant BRCA-EU 4 25384583 25384583 single base substitution C A intron_variant BRCA-EU 4 25387375 25387375 single base substitution T C intron_variant BRCA-EU 4 25389144 25389144 single base substitution C T intron_variant BRCA-EU 4 25391111 25391111 single base substitution C T downstream_gene_variant BRCA-EU 4 25391111 25391111 single base substitution C T intron_variant BRCA-EU 4 25391111 25391111 single base substitution C T upstream_gene_variant BRCA-EU 4 25392843 25392843 single base substitution A G downstream_gene_variant BRCA-EU 4 25392843 25392843 single base substitution A G intron_variant BRCA-EU 4 25392843 25392843 single base substitution A G upstream_gene_variant BRCA-EU 4 25392943 25392943 single base substitution A G downstream_gene_variant BRCA-EU 4 25392943 25392943 single base substitution A G intron_variant BRCA-EU 4 25392943 25392943 single base substitution A G upstream_gene_variant BRCA-EU 4 25393639 25393639 single base substitution C T downstream_gene_variant BRCA-EU 4 25393639 25393639 single base substitution C T intron_variant BRCA-EU 4 25393639 25393639 single base substitution C T upstream_gene_variant BRCA-EU 4 25395910 25395910 insertion of <=200bp - T downstream_gene_variant BRCA-EU 4 25395910 25395910 insertion of <=200bp - T intron_variant BRCA-EU 4 25395910 25395910 insertion of <=200bp - T upstream_gene_variant BRCA-EU 4 25399736 25399736 single base substitution G C downstream_gene_variant BRCA-EU 4 25399736 25399736 single base substitution G C intron_variant BRCA-EU 4 25399839 25399839 single base substitution C T downstream_gene_variant BRCA-EU 4 25399839 25399839 single base substitution C T intron_variant BRCA-EU 4 25399904 25399904 single base substitution G A downstream_gene_variant BRCA-EU 4 25399904 25399904 single base substitution G A intron_variant BRCA-EU 4 25400498 25400498 single base substitution G C downstream_gene_variant BRCA-EU 4 25400498 25400498 single base substitution G C intron_variant BRCA-EU 4 25401115 25401115 deletion of <=200bp T - downstream_gene_variant BRCA-EU 4 25401115 25401115 deletion of <=200bp T - intron_variant BRCA-EU 4 25403212 25403212 single base substitution C T intron_variant BRCA-EU 4 25403212 25403212 single base substitution C T upstream_gene_variant BRCA-EU 4 25403781 25403781 single base substitution A G intron_variant BRCA-EU 4 25403781 25403781 single base substitution A G upstream_gene_variant BRCA-EU 4 25404140 25404140 single base substitution G A intron_variant BRCA-EU 4 25404140 25404140 single base substitution G A upstream_gene_variant BRCA-EU 4 25406485 25406485 single base substitution G T intron_variant BRCA-EU 4 25406485 25406485 single base substitution G T upstream_gene_variant BRCA-EU 4 25406894 25406894 single base substitution T G intron_variant BRCA-EU 4 25406894 25406894 single base substitution T G upstream_gene_variant BRCA-EU 4 25407423 25407423 single base substitution C T intron_variant BRCA-EU 4 25409248 25409248 single base substitution A G intron_variant BRCA-EU 4 25417725 25417725 single base substitution G T downstream_gene_variant BRCA-EU 4 25417725 25417725 single base substitution G T exon_variant BRCA-EU 4 25417725 25417725 single base substitution G T intron_variant BRCA-EU 4 25419295 25419295 single base substitution G C downstream_gene_variant BRCA-EU 4 25419295 25419295 single base substitution G C exon_variant BRCA-EU 4 25419295 25419295 single base substitution G C missense_variant W711C 2133G>C BRCA-EU 4 25419295 25419295 single base substitution G C missense_variant W712C 2136G>C BRCA-EU 4 25420697 25420697 single base substitution T C downstream_gene_variant BRCA-EU 4 25420978 25420978 single base substitution T C downstream_gene_variant BRCA-EU 4 25422255 25422255 single base substitution C T downstream_gene_variant BRCA-EU 4 25423418 25423418 single base substitution T A downstream_gene_variant BRCA-EU 4 25424321 25424321 single base substitution C T downstream_gene_variant BRCA-EU 4 25424814 25424814 single base substitution C G downstream_gene_variant BRCA-FR 4 25380203 25380203 single base substitution G C intron_variant BRCA-FR 4 25384583 25384583 single base substitution C A downstream_gene_variant BRCA-FR 4 25384583 25384583 single base substitution C A intron_variant BRCA-FR 4 25394659 25394659 single base substitution A G downstream_gene_variant BRCA-FR 4 25394659 25394659 single base substitution A G intron_variant BRCA-FR 4 25394659 25394659 single base substitution A G upstream_gene_variant BRCA-FR 4 25400955 25400955 single base substitution G T downstream_gene_variant BRCA-FR 4 25400955 25400955 single base substitution G T intron_variant BRCA-FR 4 25417725 25417725 single base substitution G T downstream_gene_variant BRCA-FR 4 25417725 25417725 single base substitution G T exon_variant BRCA-FR 4 25417725 25417725 single base substitution G T intron_variant BRCA-FR 4 25420697 25420697 single base substitution T C downstream_gene_variant BRCA-FR 4 25424321 25424321 single base substitution C T downstream_gene_variant BRCA-UK 4 25377513 25377513 single base substitution C T upstream_gene_variant BRCA-UK 4 25419295 25419295 single base substitution G C downstream_gene_variant BRCA-UK 4 25419295 25419295 single base substitution G C exon_variant BRCA-UK 4 25419295 25419295 single base substitution G C missense_variant W711C 2133G>C BRCA-UK 4 25419295 25419295 single base substitution G C missense_variant W712C 2136G>C BRCA-US 4 25390191 25390191 deletion of <=200bp A - 3_prime_UTR_variant BRCA-US 4 25390191 25390191 deletion of <=200bp A - frameshift_variant P146 BRCA-US 4 25391815 25391815 single base substitution A G downstream_gene_variant BRCA-US 4 25391815 25391815 single base substitution A G synonymous_variant G191G 573A>G BRCA-US 4 25391815 25391815 single base substitution A G upstream_gene_variant BRCA-US 4 25395932 25395932 single base substitution G T downstream_gene_variant BRCA-US 4 25395932 25395932 single base substitution G T splice_region_variant BRCA-US 4 25395932 25395932 single base substitution G T stop_gained E293* 877G>T BRCA-US 4 25395932 25395932 single base substitution G T upstream_gene_variant BRCA-US 4 25408876 25408876 single base substitution G T splice_donor_variant BTCA-JP 4 25390521 25390521 single base substitution A C downstream_gene_variant BTCA-JP 4 25390521 25390521 single base substitution A C intron_variant BTCA-JP 4 25390521 25390521 single base substitution A C upstream_gene_variant BTCA-JP 4 25396540 25396540 single base substitution C T downstream_gene_variant BTCA-JP 4 25396540 25396540 single base substitution C T exon_variant BTCA-JP 4 25396540 25396540 single base substitution C T intron_variant BTCA-JP 4 25396540 25396540 single base substitution C T upstream_gene_variant BTCA-JP 4 25404481 25404481 single base substitution G A intron_variant BTCA-JP 4 25404481 25404481 single base substitution G A upstream_gene_variant BTCA-JP 4 25411459 25411459 single base substitution A G downstream_gene_variant BTCA-JP 4 25411459 25411459 single base substitution A G intron_variant BTCA-JP 4 25411459 25411459 single base substitution A G upstream_gene_variant BTCA-JP 4 25417258 25417258 single base substitution G A downstream_gene_variant BTCA-JP 4 25417258 25417258 single base substitution G A exon_variant BTCA-JP 4 25417258 25417258 single base substitution G A intron_variant BTCA-JP 4 25418261 25418261 deletion of <=200bp T - downstream_gene_variant BTCA-JP 4 25418261 25418261 deletion of <=200bp T - exon_variant BTCA-JP 4 25418261 25418261 deletion of <=200bp T - intron_variant BTCA-JP 4 25418261 25418261 single base substitution T C downstream_gene_variant BTCA-JP 4 25418261 25418261 single base substitution T C exon_variant BTCA-JP 4 25418261 25418261 single base substitution T C intron_variant BTCA-JP 4 25419221 25419221 deletion of <=200bp T - downstream_gene_variant BTCA-JP 4 25419221 25419221 deletion of <=200bp T - exon_variant BTCA-JP 4 25419221 25419221 deletion of <=200bp T - intron_variant BTCA-JP 4 25419317 25419317 single base substitution G A downstream_gene_variant BTCA-JP 4 25419317 25419317 single base substitution G A exon_variant BTCA-JP 4 25419317 25419317 single base substitution G A missense_variant A719T 2155G>A BTCA-JP 4 25419317 25419317 single base substitution G A missense_variant A720T 2158G>A BTCA-JP 4 25419868 25419868 single base substitution C T downstream_gene_variant BTCA-JP 4 25419868 25419868 single base substitution C T exon_variant BTCA-JP 4 25419868 25419868 single base substitution C T missense_variant A764V 2291C>T BTCA-JP 4 25419868 25419868 single base substitution C T missense_variant A765V 2294C>T CLLE-ES 4 25394089 25394089 single base substitution C T downstream_gene_variant CLLE-ES 4 25394089 25394089 single base substitution C T intron_variant CLLE-ES 4 25394089 25394089 single base substitution C T upstream_gene_variant CLLE-ES 4 25404918 25404918 single base substitution C T intron_variant CLLE-ES 4 25404918 25404918 single base substitution C T upstream_gene_variant CLLE-ES 4 25409513 25409513 single base substitution T C intron_variant COAD-US 4 25381999 25381999 single base substitution T G exon_variant COAD-US 4 25381999 25381999 single base substitution T G missense_variant L45V 133T>G COAD-US 4 25390133 25390133 single base substitution C A 3_prime_UTR_variant COAD-US 4 25390133 25390133 single base substitution C A stop_gained S127* 380C>A COAD-US 4 25398292 25398292 single base substitution G A downstream_gene_variant COAD-US 4 25398292 25398292 single base substitution G A exon_variant COAD-US 4 25398292 25398292 single base substitution G A synonymous_variant S356S 1068G>A COAD-US 4 25398292 25398292 single base substitution G A upstream_gene_variant COAD-US 4 25417117 25417117 single base substitution A C downstream_gene_variant COAD-US 4 25417117 25417117 single base substitution A C exon_variant COAD-US 4 25417117 25417117 single base substitution A C missense_variant K619T 1856A>C COAD-US 4 25417117 25417117 single base substitution A C missense_variant K620T 1859A>C COAD-US 4 25419839 25419839 single base substitution C T downstream_gene_variant COAD-US 4 25419839 25419839 single base substitution C T exon_variant COAD-US 4 25419839 25419839 single base substitution C T synonymous_variant L754L 2262C>T COAD-US 4 25419839 25419839 single base substitution C T synonymous_variant L755L 2265C>T COCA-CN 4 25382077 25382077 single base substitution C A exon_variant COCA-CN 4 25382077 25382077 single base substitution C A intron_variant COCA-CN 4 25382077 25382077 single base substitution C A missense_variant L71M 211C>A COCA-CN 4 25384882 25384882 single base substitution G T downstream_gene_variant COCA-CN 4 25384882 25384882 single base substitution G T splice_acceptor_variant COCA-CN 4 25390224 25390224 single base substitution A G intron_variant COCA-CN 4 25393889 25393889 single base substitution C T downstream_gene_variant COCA-CN 4 25393889 25393889 single base substitution C T intron_variant COCA-CN 4 25393889 25393889 single base substitution C T upstream_gene_variant COCA-CN 4 25394016 25394016 single base substitution G T downstream_gene_variant COCA-CN 4 25394016 25394016 single base substitution G T missense_variant K254N 762G>T COCA-CN 4 25394016 25394016 single base substitution G T upstream_gene_variant COCA-CN 4 25408838 25408838 single base substitution G A exon_variant COCA-CN 4 25408838 25408838 single base substitution G A missense_variant R465Q 1394G>A COCA-CN 4 25408838 25408838 single base substitution G A missense_variant R466Q 1397G>A COCA-CN 4 25408843 25408843 single base substitution G A exon_variant COCA-CN 4 25408843 25408843 single base substitution G A missense_variant G467R 1399G>A COCA-CN 4 25408843 25408843 single base substitution G A missense_variant G468R 1402G>A COCA-CN 4 25411329 25411329 single base substitution G T exon_variant COCA-CN 4 25411329 25411329 single base substitution G T missense_variant D481Y 1441G>T COCA-CN 4 25411329 25411329 single base substitution G T missense_variant D482Y 1444G>T COCA-CN 4 25411329 25411329 single base substitution G T upstream_gene_variant COCA-CN 4 25416291 25416291 single base substitution T C downstream_gene_variant COCA-CN 4 25416291 25416291 single base substitution T C exon_variant COCA-CN 4 25416291 25416291 single base substitution T C missense_variant C599R 1795T>C COCA-CN 4 25416291 25416291 single base substitution T C missense_variant C600R 1798T>C COCA-CN 4 25416291 25416291 single base substitution T C upstream_gene_variant COCA-CN 4 25419184 25419184 single base substitution T C downstream_gene_variant COCA-CN 4 25419184 25419184 single base substitution T C exon_variant COCA-CN 4 25419184 25419184 single base substitution T C intron_variant ESAD-UK 4 25374579 25374579 single base substitution G A upstream_gene_variant ESAD-UK 4 25376916 25376916 single base substitution T C upstream_gene_variant ESAD-UK 4 25378771 25378771 single base substitution C T upstream_gene_variant ESAD-UK 4 25378853 25378853 single base substitution T C 5_prime_UTR_variant ESAD-UK 4 25378853 25378853 single base substitution T C upstream_gene_variant ESAD-UK 4 25379441 25379441 single base substitution C T intron_variant ESAD-UK 4 25383744 25383744 single base substitution T C downstream_gene_variant ESAD-UK 4 25383744 25383744 single base substitution T C intron_variant ESAD-UK 4 25385217 25385217 single base substitution T C downstream_gene_variant ESAD-UK 4 25385217 25385217 single base substitution T C intron_variant ESAD-UK 4 25388608 25388608 single base substitution T G intron_variant ESAD-UK 4 25391151 25391151 single base substitution A T downstream_gene_variant ESAD-UK 4 25391151 25391151 single base substitution A T intron_variant ESAD-UK 4 25391151 25391151 single base substitution A T upstream_gene_variant ESAD-UK 4 25396093 25396093 single base substitution T A downstream_gene_variant ESAD-UK 4 25396093 25396093 single base substitution T A intron_variant ESAD-UK 4 25396093 25396093 single base substitution T A upstream_gene_variant ESAD-UK 4 25398213 25398213 single base substitution T G downstream_gene_variant ESAD-UK 4 25398213 25398213 single base substitution T G intron_variant ESAD-UK 4 25398213 25398213 single base substitution T G upstream_gene_variant ESAD-UK 4 25403462 25403462 deletion of <=200bp A - intron_variant ESAD-UK 4 25403462 25403462 deletion of <=200bp A - upstream_gene_variant ESAD-UK 4 25405937 25405937 single base substitution T C intron_variant ESAD-UK 4 25405937 25405937 single base substitution T C upstream_gene_variant ESAD-UK 4 25410067 25410067 single base substitution G A intron_variant ESAD-UK 4 25410067 25410067 single base substitution G A upstream_gene_variant ESAD-UK 4 25411802 25411802 insertion of <=200bp - GT downstream_gene_variant ESAD-UK 4 25411802 25411802 insertion of <=200bp - GT intron_variant ESAD-UK 4 25411802 25411802 insertion of <=200bp - GT upstream_gene_variant ESAD-UK 4 25413011 25413011 single base substitution A G downstream_gene_variant ESAD-UK 4 25413011 25413011 single base substitution A G intron_variant ESAD-UK 4 25413011 25413011 single base substitution A G upstream_gene_variant ESAD-UK 4 25413277 25413277 single base substitution C T downstream_gene_variant ESAD-UK 4 25413277 25413277 single base substitution C T intron_variant ESAD-UK 4 25413277 25413277 single base substitution C T upstream_gene_variant ESAD-UK 4 25413576 25413576 single base substitution C T downstream_gene_variant ESAD-UK 4 25413576 25413576 single base substitution C T intron_variant ESAD-UK 4 25413576 25413576 single base substitution C T upstream_gene_variant ESAD-UK 4 25416641 25416641 single base substitution T C downstream_gene_variant ESAD-UK 4 25416641 25416641 single base substitution T C intron_variant ESAD-UK 4 25416641 25416641 single base substitution T C upstream_gene_variant ESAD-UK 4 25417454 25417454 single base substitution G A downstream_gene_variant ESAD-UK 4 25417454 25417454 single base substitution G A exon_variant ESAD-UK 4 25417454 25417454 single base substitution G A intron_variant ESAD-UK 4 25420009 25420009 single base substitution G T 3_prime_UTR_variant ESAD-UK 4 25420009 25420009 single base substitution G T downstream_gene_variant ESAD-UK 4 25420009 25420009 single base substitution G T exon_variant ESAD-UK 4 25422147 25422147 single base substitution T A downstream_gene_variant ESCA-CN 4 25408576 25408576 single base substitution A T intron_variant ESCA-CN 4 25408870 25408870 single base substitution G T exon_variant ESCA-CN 4 25408870 25408870 single base substitution G T missense_variant G476C 1426G>T ESCA-CN 4 25408870 25408870 single base substitution G T missense_variant G477C 1429G>T GBM-US 4 25396471 25396471 single base substitution G T downstream_gene_variant GBM-US 4 25396471 25396471 single base substitution G T exon_variant GBM-US 4 25396471 25396471 single base substitution G T missense_variant Q335H 1005G>T GBM-US 4 25396471 25396471 single base substitution G T upstream_gene_variant GBM-US 4 25416009 25416009 single base substitution T C downstream_gene_variant GBM-US 4 25416009 25416009 single base substitution T C exon_variant GBM-US 4 25416009 25416009 single base substitution T C splice_donor_variant GBM-US 4 25416009 25416009 single base substitution T C upstream_gene_variant KIRC-US 4 25418164 25418164 deletion of <=200bp A - downstream_gene_variant KIRC-US 4 25418164 25418164 deletion of <=200bp A - exon_variant KIRC-US 4 25418164 25418164 deletion of <=200bp A - frameshift_variant L673 KIRC-US 4 25418164 25418164 deletion of <=200bp A - frameshift_variant L674 KIRP-US 4 25396298 25396298 single base substitution A G downstream_gene_variant KIRP-US 4 25396298 25396298 single base substitution A G exon_variant KIRP-US 4 25396298 25396298 single base substitution A G missense_variant E316G 947A>G KIRP-US 4 25396298 25396298 single base substitution A G upstream_gene_variant LAML-KR 4 25374892 25374892 single base substitution G A upstream_gene_variant LAML-KR 4 25392728 25392728 single base substitution G A downstream_gene_variant LAML-KR 4 25392728 25392728 single base substitution G A intron_variant LAML-KR 4 25392728 25392728 single base substitution G A upstream_gene_variant LAML-KR 4 25418331 25418331 single base substitution T G downstream_gene_variant LAML-KR 4 25418331 25418331 single base substitution T G exon_variant LAML-KR 4 25418331 25418331 single base substitution T G intron_variant LICA-CN 4 25382054 25382054 single base substitution A G exon_variant LICA-CN 4 25382054 25382054 single base substitution A G missense_variant N63S 188A>G LICA-FR 4 25399388 25399388 single base substitution A C downstream_gene_variant LICA-FR 4 25399388 25399388 single base substitution A C intron_variant LICA-FR 4 25400681 25400681 single base substitution A G downstream_gene_variant LICA-FR 4 25400681 25400681 single base substitution A G intron_variant LICA-FR 4 25404964 25404964 single base substitution A G intron_variant LICA-FR 4 25404964 25404964 single base substitution A G upstream_gene_variant LICA-FR 4 25409915 25409915 single base substitution A G intron_variant LICA-FR 4 25409915 25409915 single base substitution A G upstream_gene_variant LINC-JP 4 25374311 25374311 single base substitution G A upstream_gene_variant LINC-JP 4 25378686 25378686 single base substitution C T upstream_gene_variant LINC-JP 4 25380408 25380408 single base substitution G T intron_variant LINC-JP 4 25385180 25385180 single base substitution C T downstream_gene_variant LINC-JP 4 25385180 25385180 single base substitution C T intron_variant LINC-JP 4 25392014 25392014 single base substitution A G downstream_gene_variant LINC-JP 4 25392014 25392014 single base substitution A G intron_variant LINC-JP 4 25392014 25392014 single base substitution A G upstream_gene_variant LINC-JP 4 25392495 25392495 single base substitution T C downstream_gene_variant LINC-JP 4 25392495 25392495 single base substitution T C intron_variant LINC-JP 4 25392495 25392495 single base substitution T C upstream_gene_variant LINC-JP 4 25392855 25392855 single base substitution G T downstream_gene_variant LINC-JP 4 25392855 25392855 single base substitution G T intron_variant LINC-JP 4 25392855 25392855 single base substitution G T upstream_gene_variant LINC-JP 4 25393851 25393851 single base substitution A G downstream_gene_variant LINC-JP 4 25393851 25393851 single base substitution A G intron_variant LINC-JP 4 25393851 25393851 single base substitution A G upstream_gene_variant LINC-JP 4 25395184 25395184 single base substitution T G downstream_gene_variant LINC-JP 4 25395184 25395184 single base substitution T G intron_variant LINC-JP 4 25395184 25395184 single base substitution T G upstream_gene_variant LINC-JP 4 25404555 25404555 single base substitution C A intron_variant LINC-JP 4 25404555 25404555 single base substitution C A upstream_gene_variant LINC-JP 4 25407284 25407284 single base substitution G T intron_variant LINC-JP 4 25408981 25408981 single base substitution T C intron_variant LINC-JP 4 25411474 25411474 single base substitution A C downstream_gene_variant LINC-JP 4 25411474 25411474 single base substitution A C intron_variant LINC-JP 4 25411474 25411474 single base substitution A C upstream_gene_variant LINC-JP 4 25415575 25415575 single base substitution A G downstream_gene_variant LINC-JP 4 25415575 25415575 single base substitution A G exon_variant LINC-JP 4 25415575 25415575 single base substitution A G intron_variant LINC-JP 4 25415575 25415575 single base substitution A G upstream_gene_variant LINC-JP 4 25417357 25417357 single base substitution C A downstream_gene_variant LINC-JP 4 25417357 25417357 single base substitution C A exon_variant LINC-JP 4 25417357 25417357 single base substitution C A intron_variant LINC-JP 4 25417386 25417386 single base substitution A G downstream_gene_variant LINC-JP 4 25417386 25417386 single base substitution A G exon_variant LINC-JP 4 25417386 25417386 single base substitution A G intron_variant LINC-JP 4 25419269 25419269 single base substitution C T downstream_gene_variant LINC-JP 4 25419269 25419269 single base substitution C T exon_variant LINC-JP 4 25419269 25419269 single base substitution C T missense_variant R703C 2107C>T LINC-JP 4 25419269 25419269 single base substitution C T missense_variant R704C 2110C>T LIRI-JP 4 25375238 25375238 single base substitution G A upstream_gene_variant LIRI-JP 4 25377474 25377474 single base substitution A G upstream_gene_variant LIRI-JP 4 25378869 25378869 insertion of <=200bp - GGCGG 5_prime_UTR_variant LIRI-JP 4 25378869 25378869 insertion of <=200bp - GGCGG upstream_gene_variant LIRI-JP 4 25379973 25379973 single base substitution G C intron_variant LIRI-JP 4 25379975 25379975 single base substitution A G intron_variant LIRI-JP 4 25380977 25380977 single base substitution C T intron_variant LIRI-JP 4 25382089 25382089 single base substitution C T exon_variant LIRI-JP 4 25382089 25382089 single base substitution C T intron_variant LIRI-JP 4 25382089 25382089 single base substitution C T missense_variant P75S 223C>T LIRI-JP 4 25382463 25382463 single base substitution A G downstream_gene_variant LIRI-JP 4 25382463 25382463 single base substitution A G intron_variant LIRI-JP 4 25383213 25383213 single base substitution C A downstream_gene_variant LIRI-JP 4 25383213 25383213 single base substitution C A intron_variant LIRI-JP 4 25383501 25383501 single base substitution G C downstream_gene_variant LIRI-JP 4 25383501 25383501 single base substitution G C intron_variant LIRI-JP 4 25384025 25384025 single base substitution A G downstream_gene_variant LIRI-JP 4 25384025 25384025 single base substitution A G intron_variant LIRI-JP 4 25384371 25384371 single base substitution T C downstream_gene_variant LIRI-JP 4 25384371 25384371 single base substitution T C intron_variant LIRI-JP 4 25389371 25389374 deletion of <=200bp TAAA - intron_variant LIRI-JP 4 25390225 25390225 single base substitution A G intron_variant LIRI-JP 4 25390265 25390265 single base substitution C A intron_variant LIRI-JP 4 25394892 25394892 single base substitution T A downstream_gene_variant LIRI-JP 4 25394892 25394892 single base substitution T A intron_variant LIRI-JP 4 25394892 25394892 single base substitution T A upstream_gene_variant LIRI-JP 4 25396244 25396244 single base substitution C T downstream_gene_variant LIRI-JP 4 25396244 25396244 single base substitution C T intron_variant LIRI-JP 4 25396244 25396244 single base substitution C T upstream_gene_variant LIRI-JP 4 25396751 25396751 single base substitution T A downstream_gene_variant LIRI-JP 4 25396751 25396751 single base substitution T A exon_variant LIRI-JP 4 25396751 25396751 single base substitution T A intron_variant LIRI-JP 4 25396751 25396751 single base substitution T A upstream_gene_variant LIRI-JP 4 25396802 25396802 single base substitution A C downstream_gene_variant LIRI-JP 4 25396802 25396802 single base substitution A C exon_variant LIRI-JP 4 25396802 25396802 single base substitution A C intron_variant LIRI-JP 4 25396802 25396802 single base substitution A C upstream_gene_variant LIRI-JP 4 25398425 25398425 single base substitution G A downstream_gene_variant LIRI-JP 4 25398425 25398425 single base substitution G A intron_variant LIRI-JP 4 25400977 25400977 single base substitution C G downstream_gene_variant LIRI-JP 4 25400977 25400977 single base substitution C G intron_variant LIRI-JP 4 25404433 25404433 single base substitution G A intron_variant LIRI-JP 4 25404433 25404433 single base substitution G A upstream_gene_variant LIRI-JP 4 25404529 25404529 single base substitution A C intron_variant LIRI-JP 4 25404529 25404529 single base substitution A C upstream_gene_variant LIRI-JP 4 25405413 25405413 single base substitution G T intron_variant LIRI-JP 4 25405413 25405413 single base substitution G T upstream_gene_variant LIRI-JP 4 25406492 25406492 single base substitution T A intron_variant LIRI-JP 4 25406492 25406492 single base substitution T A upstream_gene_variant LIRI-JP 4 25410058 25410058 single base substitution T C intron_variant LIRI-JP 4 25410058 25410058 single base substitution T C upstream_gene_variant LIRI-JP 4 25411470 25411470 single base substitution T G downstream_gene_variant LIRI-JP 4 25411470 25411470 single base substitution T G intron_variant LIRI-JP 4 25411470 25411470 single base substitution T G upstream_gene_variant LIRI-JP 4 25411961 25411961 single base substitution A C downstream_gene_variant LIRI-JP 4 25411961 25411961 single base substitution A C intron_variant LIRI-JP 4 25411961 25411961 single base substitution A C upstream_gene_variant LIRI-JP 4 25416532 25416532 single base substitution A G downstream_gene_variant LIRI-JP 4 25416532 25416532 single base substitution A G intron_variant LIRI-JP 4 25416532 25416532 single base substitution A G upstream_gene_variant LIRI-JP 4 25422772 25422785 deletion of <=200bp TTGTGGTGATTATC - downstream_gene_variant LIRI-JP 4 25424682 25424682 single base substitution A G downstream_gene_variant LIRI-JP 4 25425034 25425034 single base substitution G A downstream_gene_variant LUSC-KR 4 25376478 25376478 single base substitution G A upstream_gene_variant LUSC-KR 4 25379255 25379255 single base substitution C A intron_variant LUSC-KR 4 25380159 25380159 single base substitution G A intron_variant LUSC-KR 4 25384890 25384890 single base substitution C G downstream_gene_variant LUSC-KR 4 25384890 25384890 single base substitution C G exon_variant LUSC-KR 4 25384890 25384890 single base substitution C G synonymous_variant A81A 243C>G LUSC-KR 4 25391148 25391148 single base substitution C G downstream_gene_variant LUSC-KR 4 25391148 25391148 single base substitution C G intron_variant LUSC-KR 4 25391148 25391148 single base substitution C G upstream_gene_variant LUSC-KR 4 25392728 25392728 single base substitution G A downstream_gene_variant LUSC-KR 4 25392728 25392728 single base substitution G A intron_variant LUSC-KR 4 25392728 25392728 single base substitution G A upstream_gene_variant LUSC-KR 4 25394078 25394078 single base substitution A G downstream_gene_variant LUSC-KR 4 25394078 25394078 single base substitution A G intron_variant LUSC-KR 4 25394078 25394078 single base substitution A G upstream_gene_variant LUSC-KR 4 25394217 25394217 single base substitution A G downstream_gene_variant LUSC-KR 4 25394217 25394217 single base substitution A G intron_variant LUSC-KR 4 25394217 25394217 single base substitution A G upstream_gene_variant LUSC-KR 4 25398245 25398245 single base substitution G A downstream_gene_variant LUSC-KR 4 25398245 25398245 single base substitution G A intron_variant LUSC-KR 4 25398245 25398245 single base substitution G A upstream_gene_variant LUSC-KR 4 25404553 25404553 single base substitution C T intron_variant LUSC-KR 4 25404553 25404553 single base substitution C T upstream_gene_variant LUSC-KR 4 25408516 25408516 single base substitution T A intron_variant LUSC-KR 4 25408724 25408724 single base substitution A G intron_variant LUSC-KR 4 25411202 25411202 single base substitution T G intron_variant LUSC-KR 4 25411202 25411202 single base substitution T G upstream_gene_variant LUSC-KR 4 25415810 25415810 single base substitution C A downstream_gene_variant LUSC-KR 4 25415810 25415810 single base substitution C A exon_variant LUSC-KR 4 25415810 25415810 single base substitution C A intron_variant LUSC-KR 4 25415810 25415810 single base substitution C A upstream_gene_variant LUSC-KR 4 25416620 25416620 single base substitution A G downstream_gene_variant LUSC-KR 4 25416620 25416620 single base substitution A G intron_variant LUSC-KR 4 25416620 25416620 single base substitution A G upstream_gene_variant LUSC-KR 4 25417244 25417244 single base substitution C T downstream_gene_variant LUSC-KR 4 25417244 25417244 single base substitution C T exon_variant LUSC-KR 4 25417244 25417244 single base substitution C T intron_variant LUSC-KR 4 25419283 25419283 single base substitution T C downstream_gene_variant LUSC-KR 4 25419283 25419283 single base substitution T C exon_variant LUSC-KR 4 25419283 25419283 single base substitution T C synonymous_variant F707F 2121T>C LUSC-KR 4 25419283 25419283 single base substitution T C synonymous_variant F708F 2124T>C LUSC-KR 4 25419954 25419954 single base substitution C A downstream_gene_variant LUSC-KR 4 25419954 25419954 single base substitution C A exon_variant LUSC-KR 4 25419954 25419954 single base substitution C A missense_variant P793T 2377C>A LUSC-KR 4 25419954 25419954 single base substitution C A missense_variant P794T 2380C>A LUSC-KR 4 25424566 25424566 single base substitution G T downstream_gene_variant LUSC-US 4 25391798 25391798 single base substitution G T 3_prime_UTR_variant LUSC-US 4 25391798 25391798 single base substitution G T downstream_gene_variant LUSC-US 4 25391798 25391798 single base substitution G T stop_gained E186* 556G>T LUSC-US 4 25391798 25391798 single base substitution G T upstream_gene_variant LUSC-US 4 25416277 25416277 single base substitution C T downstream_gene_variant LUSC-US 4 25416277 25416277 single base substitution C T exon_variant LUSC-US 4 25416277 25416277 single base substitution C T missense_variant S594L 1781C>T LUSC-US 4 25416277 25416277 single base substitution C T missense_variant S595L 1784C>T LUSC-US 4 25416277 25416277 single base substitution C T upstream_gene_variant LUSC-US 4 25419243 25419243 single base substitution A G downstream_gene_variant LUSC-US 4 25419243 25419243 single base substitution A G exon_variant LUSC-US 4 25419243 25419243 single base substitution A G missense_variant D694G 2081A>G LUSC-US 4 25419243 25419243 single base substitution A G missense_variant D695G 2084A>G MALY-DE 4 25376837 25376837 single base substitution T A upstream_gene_variant MALY-DE 4 25382982 25382982 single base substitution C G downstream_gene_variant MALY-DE 4 25382982 25382982 single base substitution C G intron_variant MALY-DE 4 25405796 25405796 single base substitution A G intron_variant MALY-DE 4 25405796 25405796 single base substitution A G upstream_gene_variant MALY-DE 4 25415553 25415554 deletion of <=200bp GT - downstream_gene_variant MALY-DE 4 25415553 25415554 deletion of <=200bp GT - exon_variant MALY-DE 4 25415553 25415554 deletion of <=200bp GT - intron_variant MALY-DE 4 25415553 25415554 deletion of <=200bp GT - upstream_gene_variant MELA-AU 4 25374289 25374289 single base substitution C T upstream_gene_variant MELA-AU 4 25374623 25374623 single base substitution C T upstream_gene_variant MELA-AU 4 25376268 25376268 single base substitution C T upstream_gene_variant MELA-AU 4 25376927 25376927 single base substitution T G upstream_gene_variant MELA-AU 4 25377307 25377307 single base substitution C T upstream_gene_variant MELA-AU 4 25378224 25378224 single base substitution C T upstream_gene_variant MELA-AU 4 25378409 25378410 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 25378869 25378869 insertion of <=200bp - GGCGG 5_prime_UTR_variant MELA-AU 4 25378869 25378869 insertion of <=200bp - GGCGG upstream_gene_variant MELA-AU 4 25379001 25379001 single base substitution G A 5_prime_UTR_variant MELA-AU 4 25379001 25379001 single base substitution G A exon_variant MELA-AU 4 25379001 25379001 single base substitution G A intron_variant MELA-AU 4 25379078 25379078 single base substitution C T exon_variant MELA-AU 4 25379078 25379078 single base substitution C T missense_variant S10F 29C>T MELA-AU 4 25379079 25379079 single base substitution C T exon_variant MELA-AU 4 25379079 25379079 single base substitution C T synonymous_variant S10S 30C>T MELA-AU 4 25379288 25379288 single base substitution C T intron_variant MELA-AU 4 25379490 25379490 single base substitution A G intron_variant MELA-AU 4 25379768 25379768 single base substitution A G intron_variant MELA-AU 4 25379905 25379905 single base substitution C T intron_variant MELA-AU 4 25380447 25380447 single base substitution C T intron_variant MELA-AU 4 25380951 25380951 single base substitution G A intron_variant MELA-AU 4 25381162 25381162 single base substitution C T intron_variant MELA-AU 4 25381718 25381718 single base substitution C T intron_variant MELA-AU 4 25382949 25382949 single base substitution C T downstream_gene_variant MELA-AU 4 25382949 25382949 single base substitution C T intron_variant MELA-AU 4 25384331 25384331 single base substitution T C downstream_gene_variant MELA-AU 4 25384331 25384331 single base substitution T C intron_variant MELA-AU 4 25384526 25384526 single base substitution C T downstream_gene_variant MELA-AU 4 25384526 25384526 single base substitution C T intron_variant MELA-AU 4 25385957 25385957 single base substitution C T downstream_gene_variant MELA-AU 4 25385957 25385957 single base substitution C T intron_variant MELA-AU 4 25386198 25386198 single base substitution C T downstream_gene_variant MELA-AU 4 25386198 25386198 single base substitution C T intron_variant MELA-AU 4 25386675 25386675 single base substitution C T downstream_gene_variant MELA-AU 4 25386675 25386675 single base substitution C T intron_variant MELA-AU 4 25386765 25386765 single base substitution A T downstream_gene_variant MELA-AU 4 25386765 25386765 single base substitution A T intron_variant MELA-AU 4 25387114 25387114 single base substitution C T downstream_gene_variant MELA-AU 4 25387114 25387114 single base substitution C T intron_variant MELA-AU 4 25387412 25387413 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 4 25387465 25387465 single base substitution C T intron_variant MELA-AU 4 25387582 25387582 single base substitution C T intron_variant MELA-AU 4 25387865 25387865 single base substitution C T intron_variant MELA-AU 4 25387869 25387869 single base substitution C T intron_variant MELA-AU 4 25388217 25388217 single base substitution C T intron_variant MELA-AU 4 25389376 25389376 single base substitution A G intron_variant MELA-AU 4 25390944 25390944 single base substitution C T downstream_gene_variant MELA-AU 4 25390944 25390944 single base substitution C T intron_variant MELA-AU 4 25390944 25390944 single base substitution C T upstream_gene_variant MELA-AU 4 25391173 25391174 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 25391173 25391174 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 25391173 25391174 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 25391635 25391635 single base substitution C T downstream_gene_variant MELA-AU 4 25391635 25391635 single base substitution C T intron_variant MELA-AU 4 25391635 25391635 single base substitution C T upstream_gene_variant MELA-AU 4 25391982 25391982 single base substitution C T downstream_gene_variant MELA-AU 4 25391982 25391982 single base substitution C T intron_variant MELA-AU 4 25391982 25391982 single base substitution C T upstream_gene_variant MELA-AU 4 25392735 25392735 single base substitution A G downstream_gene_variant MELA-AU 4 25392735 25392735 single base substitution A G intron_variant MELA-AU 4 25392735 25392735 single base substitution A G upstream_gene_variant MELA-AU 4 25392753 25392753 single base substitution C T downstream_gene_variant MELA-AU 4 25392753 25392753 single base substitution C T intron_variant MELA-AU 4 25392753 25392753 single base substitution C T upstream_gene_variant MELA-AU 4 25392906 25392906 single base substitution C T downstream_gene_variant MELA-AU 4 25392906 25392906 single base substitution C T intron_variant MELA-AU 4 25392906 25392906 single base substitution C T upstream_gene_variant MELA-AU 4 25394239 25394239 single base substitution C T downstream_gene_variant MELA-AU 4 25394239 25394239 single base substitution C T intron_variant MELA-AU 4 25394239 25394239 single base substitution C T upstream_gene_variant MELA-AU 4 25394275 25394275 single base substitution C T downstream_gene_variant MELA-AU 4 25394275 25394275 single base substitution C T intron_variant MELA-AU 4 25394275 25394275 single base substitution C T upstream_gene_variant MELA-AU 4 25394386 25394386 single base substitution T C downstream_gene_variant MELA-AU 4 25394386 25394386 single base substitution T C intron_variant MELA-AU 4 25394386 25394386 single base substitution T C upstream_gene_variant MELA-AU 4 25394785 25394785 single base substitution C T downstream_gene_variant MELA-AU 4 25394785 25394785 single base substitution C T intron_variant MELA-AU 4 25394785 25394785 single base substitution C T upstream_gene_variant MELA-AU 4 25396983 25396984 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 4 25396983 25396984 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 25396983 25396984 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 25397000 25397000 single base substitution C T exon_variant MELA-AU 4 25397000 25397000 single base substitution C T intron_variant MELA-AU 4 25397000 25397000 single base substitution C T upstream_gene_variant MELA-AU 4 25397246 25397246 single base substitution A G downstream_gene_variant MELA-AU 4 25397246 25397246 single base substitution A G intron_variant MELA-AU 4 25397246 25397246 single base substitution A G upstream_gene_variant MELA-AU 4 25398463 25398463 single base substitution C T downstream_gene_variant MELA-AU 4 25398463 25398463 single base substitution C T splice_region_variant MELA-AU 4 25398546 25398546 single base substitution C T downstream_gene_variant MELA-AU 4 25398546 25398546 single base substitution C T intron_variant MELA-AU 4 25398991 25398991 single base substitution C T downstream_gene_variant MELA-AU 4 25398991 25398991 single base substitution C T intron_variant MELA-AU 4 25399145 25399145 single base substitution A T downstream_gene_variant MELA-AU 4 25399145 25399145 single base substitution A T intron_variant MELA-AU 4 25399160 25399160 single base substitution A C downstream_gene_variant MELA-AU 4 25399160 25399160 single base substitution A C intron_variant MELA-AU 4 25400383 25400383 single base substitution G A downstream_gene_variant MELA-AU 4 25400383 25400383 single base substitution G A intron_variant MELA-AU 4 25400516 25400516 single base substitution C T downstream_gene_variant MELA-AU 4 25400516 25400516 single base substitution C T intron_variant MELA-AU 4 25401249 25401249 single base substitution C T downstream_gene_variant MELA-AU 4 25401249 25401249 single base substitution C T intron_variant MELA-AU 4 25401744 25401744 single base substitution C T downstream_gene_variant MELA-AU 4 25401744 25401744 single base substitution C T intron_variant MELA-AU 4 25402041 25402041 single base substitution T C downstream_gene_variant MELA-AU 4 25402041 25402041 single base substitution T C intron_variant MELA-AU 4 25402177 25402177 single base substitution G A intron_variant MELA-AU 4 25402773 25402773 single base substitution C T intron_variant MELA-AU 4 25402773 25402773 single base substitution C T upstream_gene_variant MELA-AU 4 25402862 25402862 single base substitution T C intron_variant MELA-AU 4 25402862 25402862 single base substitution T C upstream_gene_variant MELA-AU 4 25403011 25403011 single base substitution T A intron_variant MELA-AU 4 25403011 25403011 single base substitution T A upstream_gene_variant MELA-AU 4 25403026 25403026 single base substitution C T intron_variant MELA-AU 4 25403026 25403026 single base substitution C T upstream_gene_variant MELA-AU 4 25403028 25403028 single base substitution C T intron_variant MELA-AU 4 25403028 25403028 single base substitution C T upstream_gene_variant MELA-AU 4 25404183 25404183 single base substitution C T intron_variant MELA-AU 4 25404183 25404183 single base substitution C T upstream_gene_variant MELA-AU 4 25404287 25404287 single base substitution T C intron_variant MELA-AU 4 25404287 25404287 single base substitution T C upstream_gene_variant MELA-AU 4 25404434 25404434 single base substitution C T intron_variant MELA-AU 4 25404434 25404434 single base substitution C T upstream_gene_variant MELA-AU 4 25407529 25407529 single base substitution T C intron_variant MELA-AU 4 25407564 25407564 single base substitution C T intron_variant MELA-AU 4 25407675 25407675 single base substitution C T intron_variant MELA-AU 4 25408090 25408090 single base substitution C T intron_variant MELA-AU 4 25408607 25408607 single base substitution C T intron_variant MELA-AU 4 25408845 25408845 single base substitution A G exon_variant MELA-AU 4 25408845 25408845 single base substitution A G synonymous_variant G467G 1401A>G MELA-AU 4 25408845 25408845 single base substitution A G synonymous_variant G468G 1404A>G MELA-AU 4 25409403 25409403 single base substitution G A intron_variant MELA-AU 4 25409926 25409926 single base substitution C T intron_variant MELA-AU 4 25409926 25409926 single base substitution C T upstream_gene_variant MELA-AU 4 25412060 25412060 single base substitution T C downstream_gene_variant MELA-AU 4 25412060 25412060 single base substitution T C intron_variant MELA-AU 4 25412060 25412060 single base substitution T C upstream_gene_variant MELA-AU 4 25412351 25412351 single base substitution C T downstream_gene_variant MELA-AU 4 25412351 25412351 single base substitution C T intron_variant MELA-AU 4 25412351 25412351 single base substitution C T upstream_gene_variant MELA-AU 4 25412795 25412795 single base substitution A G downstream_gene_variant MELA-AU 4 25412795 25412795 single base substitution A G intron_variant MELA-AU 4 25412795 25412795 single base substitution A G upstream_gene_variant MELA-AU 4 25413269 25413269 single base substitution C T downstream_gene_variant MELA-AU 4 25413269 25413269 single base substitution C T intron_variant MELA-AU 4 25413269 25413269 single base substitution C T upstream_gene_variant MELA-AU 4 25413692 25413692 single base substitution C T downstream_gene_variant MELA-AU 4 25413692 25413692 single base substitution C T intron_variant MELA-AU 4 25413692 25413692 single base substitution C T upstream_gene_variant MELA-AU 4 25413716 25413716 single base substitution A G downstream_gene_variant MELA-AU 4 25413716 25413716 single base substitution A G intron_variant MELA-AU 4 25413716 25413716 single base substitution A G upstream_gene_variant MELA-AU 4 25413850 25413850 single base substitution C T downstream_gene_variant MELA-AU 4 25413850 25413850 single base substitution C T intron_variant MELA-AU 4 25413850 25413850 single base substitution C T upstream_gene_variant MELA-AU 4 25413999 25413999 single base substitution C T downstream_gene_variant MELA-AU 4 25413999 25413999 single base substitution C T intron_variant MELA-AU 4 25413999 25413999 single base substitution C T upstream_gene_variant MELA-AU 4 25414536 25414536 single base substitution C T downstream_gene_variant MELA-AU 4 25414536 25414536 single base substitution C T intron_variant MELA-AU 4 25414536 25414536 single base substitution C T upstream_gene_variant MELA-AU 4 25415738 25415738 single base substitution C T downstream_gene_variant MELA-AU 4 25415738 25415738 single base substitution C T exon_variant MELA-AU 4 25415738 25415738 single base substitution C T intron_variant MELA-AU 4 25415738 25415738 single base substitution C T upstream_gene_variant MELA-AU 4 25416049 25416049 single base substitution A G downstream_gene_variant MELA-AU 4 25416049 25416049 single base substitution A G exon_variant MELA-AU 4 25416049 25416049 single base substitution A G intron_variant MELA-AU 4 25416049 25416049 single base substitution A G upstream_gene_variant MELA-AU 4 25416076 25416076 single base substitution C T downstream_gene_variant MELA-AU 4 25416076 25416076 single base substitution C T exon_variant MELA-AU 4 25416076 25416076 single base substitution C T intron_variant MELA-AU 4 25416076 25416076 single base substitution C T upstream_gene_variant MELA-AU 4 25416406 25416406 single base substitution G A downstream_gene_variant MELA-AU 4 25416406 25416406 single base substitution G A intron_variant MELA-AU 4 25416406 25416406 single base substitution G A upstream_gene_variant MELA-AU 4 25417245 25417246 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 4 25417245 25417246 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 4 25417245 25417246 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 25418562 25418562 single base substitution C T downstream_gene_variant MELA-AU 4 25418562 25418562 single base substitution C T exon_variant MELA-AU 4 25418562 25418562 single base substitution C T intron_variant MELA-AU 4 25419869 25419869 single base substitution C T downstream_gene_variant MELA-AU 4 25419869 25419869 single base substitution C T exon_variant MELA-AU 4 25419869 25419869 single base substitution C T synonymous_variant A764A 2292C>T MELA-AU 4 25419869 25419869 single base substitution C T synonymous_variant A765A 2295C>T MELA-AU 4 25420580 25420580 single base substitution T C downstream_gene_variant MELA-AU 4 25420585 25420585 single base substitution A G downstream_gene_variant MELA-AU 4 25420718 25420718 single base substitution G T downstream_gene_variant MELA-AU 4 25424187 25424187 single base substitution C T downstream_gene_variant ORCA-IN 4 25412645 25412645 single base substitution A G downstream_gene_variant ORCA-IN 4 25412645 25412645 single base substitution A G intron_variant ORCA-IN 4 25412645 25412645 single base substitution A G upstream_gene_variant ORCA-IN 4 25412650 25412650 single base substitution T G downstream_gene_variant ORCA-IN 4 25412650 25412650 single base substitution T G intron_variant ORCA-IN 4 25412650 25412650 single base substitution T G upstream_gene_variant ORCA-IN 4 25417608 25417608 single base substitution C T downstream_gene_variant ORCA-IN 4 25417608 25417608 single base substitution C T exon_variant ORCA-IN 4 25417608 25417608 single base substitution C T intron_variant OV-AU 4 25377561 25377561 single base substitution C T upstream_gene_variant OV-AU 4 25387064 25387064 single base substitution C T downstream_gene_variant OV-AU 4 25387064 25387064 single base substitution C T intron_variant OV-AU 4 25395695 25395695 single base substitution G C downstream_gene_variant OV-AU 4 25395695 25395695 single base substitution G C intron_variant OV-AU 4 25395695 25395695 single base substitution G C upstream_gene_variant OV-AU 4 25401777 25401777 single base substitution T G downstream_gene_variant OV-AU 4 25401777 25401777 single base substitution T G intron_variant OV-US 4 25417157 25417157 single base substitution A G downstream_gene_variant OV-US 4 25417157 25417157 single base substitution A G exon_variant OV-US 4 25417157 25417157 single base substitution A G synonymous_variant R632R 1896A>G OV-US 4 25417157 25417157 single base substitution A G synonymous_variant R633R 1899A>G PACA-AU 4 25373975 25373975 single base substitution G A upstream_gene_variant PACA-AU 4 25383755 25383755 single base substitution A G downstream_gene_variant PACA-AU 4 25383755 25383755 single base substitution A G intron_variant PACA-AU 4 25398114 25398114 single base substitution C A downstream_gene_variant PACA-AU 4 25398114 25398114 single base substitution C A intron_variant PACA-AU 4 25398114 25398114 single base substitution C A upstream_gene_variant PACA-AU 4 25398844 25398844 single base substitution T C downstream_gene_variant PACA-AU 4 25398844 25398844 single base substitution T C intron_variant PACA-AU 4 25409939 25409939 single base substitution G A intron_variant PACA-AU 4 25409939 25409939 single base substitution G A upstream_gene_variant PACA-AU 4 25414368 25414368 single base substitution G T downstream_gene_variant PACA-AU 4 25414368 25414368 single base substitution G T intron_variant PACA-AU 4 25414368 25414368 single base substitution G T upstream_gene_variant PACA-AU 4 25414370 25414370 single base substitution C T downstream_gene_variant PACA-AU 4 25414370 25414370 single base substitution C T intron_variant PACA-AU 4 25414370 25414370 single base substitution C T upstream_gene_variant PACA-AU 4 25418320 25418320 single base substitution G A downstream_gene_variant PACA-AU 4 25418320 25418320 single base substitution G A exon_variant PACA-AU 4 25418320 25418320 single base substitution G A intron_variant PACA-AU 4 25421312 25421312 single base substitution G T downstream_gene_variant PACA-AU 4 25421495 25421495 single base substitution G T downstream_gene_variant PACA-CA 4 25374215 25374215 single base substitution A G upstream_gene_variant PACA-CA 4 25374794 25374794 single base substitution T C upstream_gene_variant PACA-CA 4 25375526 25375526 single base substitution A T upstream_gene_variant PACA-CA 4 25378949 25378949 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 4 25378949 25378949 single base substitution C T upstream_gene_variant PACA-CA 4 25379199 25379199 single base substitution C T intron_variant PACA-CA 4 25390535 25390535 single base substitution C A downstream_gene_variant PACA-CA 4 25390535 25390535 single base substitution C A intron_variant PACA-CA 4 25390535 25390535 single base substitution C A upstream_gene_variant PACA-CA 4 25391052 25391052 single base substitution T A downstream_gene_variant PACA-CA 4 25391052 25391052 single base substitution T A intron_variant PACA-CA 4 25391052 25391052 single base substitution T A upstream_gene_variant PACA-CA 4 25397498 25397498 single base substitution G T downstream_gene_variant PACA-CA 4 25397498 25397498 single base substitution G T intron_variant PACA-CA 4 25397498 25397498 single base substitution G T upstream_gene_variant PACA-CA 4 25401115 25401115 deletion of <=200bp T - downstream_gene_variant PACA-CA 4 25401115 25401115 deletion of <=200bp T - intron_variant PACA-CA 4 25403264 25403264 single base substitution C T intron_variant PACA-CA 4 25403264 25403264 single base substitution C T upstream_gene_variant PACA-CA 4 25403461 25403461 insertion of <=200bp - A intron_variant PACA-CA 4 25403461 25403461 insertion of <=200bp - A upstream_gene_variant PACA-CA 4 25405115 25405115 single base substitution A C intron_variant PACA-CA 4 25405115 25405115 single base substitution A C upstream_gene_variant PACA-CA 4 25408838 25408838 single base substitution G A exon_variant PACA-CA 4 25408838 25408838 single base substitution G A missense_variant R465Q 1394G>A PACA-CA 4 25408838 25408838 single base substitution G A missense_variant R466Q 1397G>A PACA-CA 4 25409470 25409470 single base substitution T G intron_variant PACA-CA 4 25417990 25417990 single base substitution A T downstream_gene_variant PACA-CA 4 25417990 25417990 single base substitution A T exon_variant PACA-CA 4 25417990 25417990 single base substitution A T intron_variant PACA-CA 4 25419895 25419895 single base substitution A T downstream_gene_variant PACA-CA 4 25419895 25419895 single base substitution A T exon_variant PACA-CA 4 25419895 25419895 single base substitution A T missense_variant E773V 2318A>T PACA-CA 4 25419895 25419895 single base substitution A T missense_variant E774V 2321A>T PACA-CA 4 25420416 25420416 single base substitution G C downstream_gene_variant PACA-CA 4 25423347 25423347 deletion of <=200bp T - downstream_gene_variant PACA-CA 4 25424882 25424882 insertion of <=200bp - T downstream_gene_variant PAEN-AU 4 25386206 25386206 single base substitution T G downstream_gene_variant PAEN-AU 4 25386206 25386206 single base substitution T G intron_variant PAEN-IT 4 25391716 25391716 single base substitution G T downstream_gene_variant PAEN-IT 4 25391716 25391716 single base substitution G T intron_variant PAEN-IT 4 25391716 25391716 single base substitution G T upstream_gene_variant PAEN-IT 4 25406473 25406473 single base substitution T C intron_variant PAEN-IT 4 25406473 25406473 single base substitution T C upstream_gene_variant PAEN-IT 4 25410851 25410851 single base substitution A G intron_variant PAEN-IT 4 25410851 25410851 single base substitution A G upstream_gene_variant PBCA-DE 4 25378022 25378022 single base substitution C T upstream_gene_variant PBCA-DE 4 25386422 25386422 insertion of <=200bp - A downstream_gene_variant PBCA-DE 4 25386422 25386422 insertion of <=200bp - A intron_variant PBCA-DE 4 25396595 25396595 single base substitution C T downstream_gene_variant PBCA-DE 4 25396595 25396595 single base substitution C T exon_variant PBCA-DE 4 25396595 25396595 single base substitution C T intron_variant PBCA-DE 4 25396595 25396595 single base substitution C T upstream_gene_variant PBCA-DE 4 25402042 25402042 single base substitution T A downstream_gene_variant PBCA-DE 4 25402042 25402042 single base substitution T A intron_variant PBCA-DE 4 25402963 25402963 single base substitution A C intron_variant PBCA-DE 4 25402963 25402963 single base substitution A C upstream_gene_variant PBCA-DE 4 25411966 25411966 single base substitution C T downstream_gene_variant PBCA-DE 4 25411966 25411966 single base substitution C T intron_variant PBCA-DE 4 25411966 25411966 single base substitution C T upstream_gene_variant PBCA-DE 4 25415553 25415554 deletion of <=200bp GT - downstream_gene_variant PBCA-DE 4 25415553 25415554 deletion of <=200bp GT - exon_variant PBCA-DE 4 25415553 25415554 deletion of <=200bp GT - intron_variant PBCA-DE 4 25415553 25415554 deletion of <=200bp GT - upstream_gene_variant PBCA-DE 4 25421894 25421894 single base substitution C A downstream_gene_variant PRAD-CA 4 25377812 25377812 single base substitution C A upstream_gene_variant PRAD-CA 4 25381548 25381548 single base substitution T A intron_variant PRAD-CA 4 25403089 25403089 single base substitution G A intron_variant PRAD-CA 4 25403089 25403089 single base substitution G A upstream_gene_variant PRAD-CA 4 25408848 25408848 single base substitution A G exon_variant PRAD-CA 4 25408848 25408848 single base substitution A G synonymous_variant K468K 1404A>G PRAD-CA 4 25408848 25408848 single base substitution A G synonymous_variant K469K 1407A>G PRAD-UK 4 25384160 25384162 deletion of <=200bp TAT - downstream_gene_variant PRAD-UK 4 25384160 25384162 deletion of <=200bp TAT - intron_variant PRAD-UK 4 25396022 25396022 single base substitution T G downstream_gene_variant PRAD-UK 4 25396022 25396022 single base substitution T G intron_variant PRAD-UK 4 25396022 25396022 single base substitution T G upstream_gene_variant PRAD-UK 4 25396114 25396114 single base substitution A C downstream_gene_variant PRAD-UK 4 25396114 25396114 single base substitution A C intron_variant PRAD-UK 4 25396114 25396114 single base substitution A C upstream_gene_variant PRAD-UK 4 25409687 25409687 single base substitution C T intron_variant PRAD-UK 4 25409687 25409687 single base substitution C T upstream_gene_variant READ-US 4 25384897 25384897 single base substitution C T downstream_gene_variant READ-US 4 25384897 25384897 single base substitution C T exon_variant READ-US 4 25384897 25384897 single base substitution C T missense_variant L84F 250C>T READ-US 4 25398383 25398383 single base substitution G A downstream_gene_variant READ-US 4 25398383 25398383 single base substitution G A exon_variant READ-US 4 25398383 25398383 single base substitution G A missense_variant E387K 1159G>A READ-US 4 25408463 25408463 single base substitution G T exon_variant READ-US 4 25408463 25408463 single base substitution G T missense_variant D444Y 1330G>T READ-US 4 25408463 25408463 single base substitution G T missense_variant D445Y 1333G>T READ-US 4 25419793 25419793 single base substitution G A downstream_gene_variant READ-US 4 25419793 25419793 single base substitution G A exon_variant READ-US 4 25419793 25419793 single base substitution G A missense_variant R739H 2216G>A READ-US 4 25419793 25419793 single base substitution G A missense_variant R740H 2219G>A RECA-EU 4 25378029 25378029 single base substitution G A upstream_gene_variant RECA-EU 4 25379730 25379730 single base substitution A C intron_variant RECA-EU 4 25388865 25388865 single base substitution T C intron_variant RECA-EU 4 25392515 25392515 single base substitution G T downstream_gene_variant RECA-EU 4 25392515 25392515 single base substitution G T intron_variant RECA-EU 4 25392515 25392515 single base substitution G T upstream_gene_variant RECA-EU 4 25404224 25404224 single base substitution A G intron_variant RECA-EU 4 25404224 25404224 single base substitution A G upstream_gene_variant RECA-EU 4 25407017 25407017 single base substitution A G intron_variant RECA-EU 4 25407017 25407017 single base substitution A G upstream_gene_variant RECA-EU 4 25408565 25408565 single base substitution A G intron_variant SKCA-BR 4 25374218 25374218 single base substitution C T upstream_gene_variant SKCA-BR 4 25377756 25377790 deletion of <=200bp GCTCACTGCAAGCTCCGCCTCACTGCAAGCCCCGC - upstream_gene_variant SKCA-BR 4 25377769 25377786 deletion of <=200bp TCCGCCTCACTGCAAGCC - upstream_gene_variant SKCA-BR 4 25378665 25378665 single base substitution C T upstream_gene_variant SKCA-BR 4 25378713 25378713 single base substitution G A upstream_gene_variant SKCA-BR 4 25378845 25378845 single base substitution G A 5_prime_UTR_variant SKCA-BR 4 25378845 25378845 single base substitution G A upstream_gene_variant SKCA-BR 4 25383377 25383377 single base substitution C T downstream_gene_variant SKCA-BR 4 25383377 25383377 single base substitution C T intron_variant SKCA-BR 4 25387152 25387152 single base substitution T G downstream_gene_variant SKCA-BR 4 25387152 25387152 single base substitution T G intron_variant SKCA-BR 4 25397534 25397534 single base substitution C T downstream_gene_variant SKCA-BR 4 25397534 25397534 single base substitution C T intron_variant SKCA-BR 4 25397534 25397534 single base substitution C T upstream_gene_variant SKCA-BR 4 25397593 25397593 single base substitution A C downstream_gene_variant SKCA-BR 4 25397593 25397593 single base substitution A C intron_variant SKCA-BR 4 25397593 25397593 single base substitution A C upstream_gene_variant SKCA-BR 4 25398726 25398726 single base substitution C A downstream_gene_variant SKCA-BR 4 25398726 25398726 single base substitution C A intron_variant SKCA-BR 4 25400463 25400463 single base substitution A T downstream_gene_variant SKCA-BR 4 25400463 25400463 single base substitution A T intron_variant SKCA-BR 4 25404508 25404508 single base substitution T G intron_variant SKCA-BR 4 25404508 25404508 single base substitution T G upstream_gene_variant SKCA-BR 4 25408799 25408799 single base substitution C T intron_variant SKCA-BR 4 25416014 25416014 single base substitution C T downstream_gene_variant SKCA-BR 4 25416014 25416014 single base substitution C T exon_variant SKCA-BR 4 25416014 25416014 single base substitution C T intron_variant SKCA-BR 4 25416014 25416014 single base substitution C T splice_region_variant SKCA-BR 4 25416014 25416014 single base substitution C T upstream_gene_variant SKCM-US 4 25379058 25379058 deletion of <=200bp T - exon_variant SKCM-US 4 25379058 25379058 deletion of <=200bp T - frameshift_variant R3 SKCM-US 4 25379079 25379079 single base substitution C T exon_variant SKCM-US 4 25379079 25379079 single base substitution C T synonymous_variant S10S 30C>T SKCM-US 4 25379083 25379083 single base substitution C T exon_variant SKCM-US 4 25379083 25379083 single base substitution C T missense_variant R12W 34C>T SKCM-US 4 25379139 25379139 single base substitution C T exon_variant SKCM-US 4 25379139 25379139 single base substitution C T synonymous_variant P30P 90C>T SKCM-US 4 25384968 25384968 single base substitution G A 3_prime_UTR_variant SKCM-US 4 25384968 25384968 single base substitution G A downstream_gene_variant SKCM-US 4 25384968 25384968 single base substitution G A synonymous_variant E107E 321G>A SKCM-US 4 25398357 25398357 single base substitution C T downstream_gene_variant SKCM-US 4 25398357 25398357 single base substitution C T exon_variant SKCM-US 4 25398357 25398357 single base substitution C T missense_variant P378L 1133C>T SKCM-US 4 25416220 25416220 single base substitution G A downstream_gene_variant SKCM-US 4 25416220 25416220 single base substitution G A splice_acceptor_variant SKCM-US 4 25416220 25416220 single base substitution G A upstream_gene_variant SKCM-US 4 25419792 25419792 single base substitution C T downstream_gene_variant SKCM-US 4 25419792 25419792 single base substitution C T exon_variant SKCM-US 4 25419792 25419792 single base substitution C T missense_variant R739C 2215C>T SKCM-US 4 25419792 25419792 single base substitution C T missense_variant R740C 2218C>T SKCM-US 4 25419869 25419869 single base substitution C T downstream_gene_variant SKCM-US 4 25419869 25419869 single base substitution C T exon_variant SKCM-US 4 25419869 25419869 single base substitution C T synonymous_variant A764A 2292C>T SKCM-US 4 25419869 25419869 single base substitution C T synonymous_variant A765A 2295C>T UCEC-US 4 25384996 25384996 single base substitution G A 3_prime_UTR_variant UCEC-US 4 25384996 25384996 single base substitution G A downstream_gene_variant UCEC-US 4 25384996 25384996 single base substitution G A missense_variant E117K 349G>A UCEC-US 4 25390470 25390470 single base substitution T C 3_prime_UTR_variant UCEC-US 4 25390470 25390470 single base substitution T C missense_variant S161P 481T>C UCEC-US 4 25394002 25394002 single base substitution C T downstream_gene_variant UCEC-US 4 25394002 25394002 single base substitution C T missense_variant R250W 748C>T UCEC-US 4 25394002 25394002 single base substitution C T upstream_gene_variant UCEC-US 4 25404628 25404628 single base substitution T G exon_variant UCEC-US 4 25404628 25404628 single base substitution T G missense_variant F417C 1250T>G UCEC-US 4 25404628 25404628 single base substitution T G upstream_gene_variant UCEC-US 4 25408837 25408837 single base substitution C T exon_variant UCEC-US 4 25408837 25408837 single base substitution C T stop_gained R465* 1393C>T UCEC-US 4 25408837 25408837 single base substitution C T stop_gained R466* 1396C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PR-3048 COSM242934 c.581A>C p.K194T Substitution - Missense 4:25390201-25390201 + T6 COSM149658 c.2121T>C p.F707F Substitution - coding silent 4:25417661-25417661 + RK119_C01 COSM3767830 c.223C>T p.P75S Substitution - Missense 4:25380467-25380467 + TCGA-BP-5202-01 COSM481184 c.874C>T p.Q292* Substitution - Nonsense 4:25393889-25393889 + HT115 COSM3133297 c.1823C>A p.S608Y Substitution - Missense 4:25414697-25414697 + TCGA-AA-A010-01 COSM299052 c.1901+4A>C p.? Unknown 4:25415544-25415544 + M001-LN COSM1738952 c.985-7T>A p.? Unknown 4:25394822-25394822 + YUKLAB COSM1694213 c.157C>T p.H53Y Substitution - Missense 4:25380401-25380401 + P129 COSM5008428 c.1848T>A p.I616I Substitution - coding silent 4:25415487-25415487 + 2521259 COSM5889984 c.129+7G>A p.? Unknown 4:25377563-25377563 + TCGA-AP-A051-01 COSM1054666 c.349G>A p.E117K Substitution - Missense 4:25383374-25383374 + SNUH_G76_S1 COSM149658 c.2121T>C p.F707F Substitution - coding silent 4:25417661-25417661 + TCGA-02-0003 COSM2148918 c.1005G>T p.Q335H Substitution - Missense 4:25394849-25394849 + CSCC-56-T COSM4459664 c.1135C>T p.L379F Substitution - Missense 4:25396737-25396737 + TCGA-EE-A3JI-06 COSM3603080 c.90C>T p.P30P Substitution - coding silent 4:25377517-25377517 + TCGA-B0-4700-01 COSM481185 c.1318A>G p.M440V Substitution - Missense 4:25406829-25406829 + TCGA-E9-A1NI-01 COSM1485922 c.877G>T p.E293* Substitution - Nonsense 4:25394310-25394310 + 88_T COSM3946292 c.441A>C p.K147N Substitution - Missense 4:25388572-25388572 + PT50 COSM5937130 c.1163-8C>T p.? Unknown 4:25396840-25396840 + Pat_59_A COSM5866229 c.142C>T p.R48* Substitution - Nonsense 4:25380386-25380386 + GC8_T COSM149658 c.2121T>C p.F707F Substitution - coding silent 4:25417661-25417661 + P12 COSM5008428 c.1848T>A p.I616I Substitution - coding silent 4:25415487-25415487 + H1155 COSM1195841 c.2195G>A p.C732Y Substitution - Missense 4:25417735-25417735 + TCGA-CA-6717-01 COSM1429261 c.1856A>C p.K619T Substitution - Missense 4:25415495-25415495 + ME035T COSM227473 c.1184C>A p.S395Y Substitution - Missense 4:25396869-25396869 + CSCC-27-T COSM4480496 c.2424C>T p.S808S Substitution - coding silent 4:25418379-25418379 + TCGA-DW-5561-01 COSM3993625 c.947A>G p.E316G Substitution - Missense 4:25394676-25394676 + TCGA-AG-3601-01 COSM288052 c.81C>T p.V27V Substitution - coding silent 4:25377508-25377508 + TCGA-EE-A181-06 COSM3603081 c.321G>A p.E107E Substitution - coding silent 4:25383346-25383346 + LUAD-S01315 COSM345621 c.616C>T p.L206F Substitution - Missense 4:25390926-25390926 + TCGA-GC-A3RC-01 COSM3775773 c.341A>G p.H114R Substitution - Missense 4:25383366-25383366 + TCGA-EI-6882-01 COSM3428448 c.2216G>A p.R739H Substitution - Missense 4:25418171-25418171 + BD121T COSM5514995 c.2155G>A p.A719T Substitution - Missense 4:25417695-25417695 + TCGA-F5-6814-01 COSM3749870 c.1330G>T p.D444Y Substitution - Missense 4:25406841-25406841 + B89-5 COSM1753695 c.1068G>C p.S356S Substitution - coding silent 4:25396670-25396670 + Pat_06_B COSM5225464 c.438delA p.N148fs*67 Deletion - Frameshift 4:25388569-25388569 + sysucc-882T COSM5447605 c.1795T>C p.C599R Substitution - Missense 4:25414669-25414669 + HCC053T COSM5803824 c.188A>G p.N63S Substitution - Missense 4:25380432-25380432 + P13 COSM149659 c.2331G>T p.S777S Substitution - coding silent 4:25418286-25418286 + ESCC_BICR_016T COSM5439579 c.1426G>T p.G476C Substitution - Missense 4:25407248-25407248 + CSCC-20-T COSM3603080 c.90C>T p.P30P Substitution - coding silent 4:25377517-25377517 + TCGA-EB-A41A-01 COSM3603084 c.2215C>T p.R739C Substitution - Missense 4:25418170-25418170 + TCGA-DS-A1OC-01 COSM1294138 c.1603C>T p.Q535* Substitution - Nonsense 4:25413722-25413722 + PD3904a COSM219197 c.2133G>C p.W711C Substitution - Missense 4:25417673-25417673 + YURAY COSM5401050 c.1640C>T p.S547L Substitution - Missense 4:25414340-25414340 + Pat_04_A COSM5866230 c.178C>T p.P60S Substitution - Missense 4:25380422-25380422 + TCGA-CA-6717-01 COSM1429256 c.133T>G p.L45V Substitution - Missense 4:25380377-25380377 + T3011 COSM4661487 c.839T>G p.L280R Substitution - Missense 4:25393854-25393854 + TCGA-AK-3465-01 COSM1319344 c.236-2A>T p.? Unknown 4:25383259-25383259 + J33_T COSM3946291 c.243C>G p.A81A Substitution - coding silent 4:25383268-25383268 + TCGA-EE-A2MM-06 COSM3603085 c.2292C>T p.A764A Substitution - coding silent 4:25418247-25418247 + T3145 COSM1540101 c.749G>A p.R250Q Substitution - Missense 4:25392381-25392381 + TCGA-EE-A2GR-06 COSM3603079 c.34C>T p.R12W Substitution - Missense 4:25377461-25377461 + 403 COSM4429942 c.385T>C p.Y129H Substitution - Missense 4:25388516-25388516 + C141 COSM4441501 c.944C>A p.A315D Substitution - Missense 4:25394673-25394673 + TCGA-02-0003-01 COSM2148918 c.1005G>T p.Q335H Substitution - Missense 4:25394849-25394849 + SNUH_G10_S1 COSM149658 c.2121T>C p.F707F Substitution - coding silent 4:25417661-25417661 + PD6753a COSM1637802 c.2157A>G p.A719A Substitution - coding silent 4:25417697-25417697 + BD236T COSM5518520 c.2291C>T p.A764V Substitution - Missense 4:25418246-25418246 + TCGA-A6-6141-01 COSM1429264 c.2262C>T p.L754L Substitution - coding silent 4:25418217-25418217 + TCGA-AG-A002-01 COSM259417 c.2015C>A p.S672Y Substitution - Missense 4:25416538-25416538 + 2492730 COSM5729548 c.611C>T p.T204I Substitution - Missense 4:25390921-25390921 + 27 COSM3749870 c.1330G>T p.D444Y Substitution - Missense 4:25406841-25406841 + LS174T COSM4646105 c.2088G>A p.Q696Q Substitution - coding silent 4:25417628-25417628 + TCGA-B5-A0JY-01 COSM1054667 c.481T>C p.S161P Substitution - Missense 4:25388848-25388848 + TCGA-DK-A2I4-01 COSM3775774 c.846G>C p.Q282H Substitution - Missense 4:25393861-25393861 + C608 COSM4442986 c.904G>T p.D302Y Substitution - Missense 4:25394337-25394337 + Pa09C COSM84851 c.2013G>T p.L671F Substitution - Missense 4:25416536-25416536 + TCGA-EE-A29M-06 COSM3603084 c.2215C>T p.R739C Substitution - Missense 4:25418170-25418170 + ESCC_72 COSM5634369 c.677A>G p.N226S Substitution - Missense 4:25390987-25390987 + TCGA-A5-A0G9-01 COSM1054668 c.748C>T p.R250W Substitution - Missense 4:25392380-25392380 + TCGA-13-0920-01 COSM80862 c.1896A>G p.R632R Substitution - coding silent 4:25415535-25415535 + pfg181T COSM4751454 c.766A>G p.T256A Substitution - Missense 4:25392398-25392398 + CSCC-7-T COSM4517272 c.29_30CC>AT p.S10Y Substitution - Missense 4:25377456-25377457 + LN18 COSM1054666 c.349G>A p.E117K Substitution - Missense 4:25383374-25383374 + TCGA-18-3409-01 COSM733654 c.1781C>T p.S594L Substitution - Missense 4:25414655-25414655 + TCGA-AP-A0LM-01 COSM1054669 c.1250T>G p.F417C Substitution - Missense 4:25403006-25403006 + TCGA-AX-A0J0-01 COSM1054670 c.1393C>T p.R465* Substitution - Nonsense 4:25407215-25407215 + FM474T COSM673928 c.529G>A p.V177I Substitution - Missense 4:25390149-25390149 + SNUH_G73_S1 COSM149658 c.2121T>C p.F707F Substitution - coding silent 4:25417661-25417661 + YUSMI COSM5401049 c.1395delA p.G467fs*13 Deletion - Frameshift 4:25407217-25407217 + P60 COSM149658 c.2121T>C p.F707F Substitution - coding silent 4:25417661-25417661 + sysucc-311T COSM5420011 c.1394G>A p.R465Q Substitution - Missense 4:25407216-25407216 + YULAN COSM1694214 c.482C>T p.S161F Substitution - Missense 4:25388849-25388849 + TCGA-A8-A07R-01 COSM447747 c.1431+1G>T p.? Unknown 4:25407254-25407254 + RK26-R2 COSM4411017 c.404C>G p.S135* Substitution - Nonsense 4:25388535-25388535 + P13 COSM149658 c.2121T>C p.F707F Substitution - coding silent 4:25417661-25417661 + TCGA-A6-6141-01 COSM1429257 c.380C>A p.S127* Substitution - Nonsense 4:25388511-25388511 + YUBOT COSM1694216 c.2360G>T p.G787V Substitution - Missense 4:25418315-25418315 + TCGA-F5-6814-01 COSM3428447 c.1159G>A p.E387K Substitution - Missense 4:25396761-25396761 + P158 COSM5008536 c.272T>C p.V91A Substitution - Missense 4:25383297-25383297 + TCGA-21-5782-01 COSM733653 c.2081A>G p.D694G Substitution - Missense 4:25417621-25417621 + TCGA-EE-A2MR-06 COSM3603078 c.30C>T p.S10S Substitution - coding silent 4:25377457-25377457 + SNUH_G10_S1 COSM149659 c.2331G>T p.S777S Substitution - coding silent 4:25418286-25418286 + YUPAT COSM1694215 c.856C>T p.R286C Substitution - Missense 4:25393871-25393871 + TCGA-A6-2683-01 COSM291206 c.462A>G p.K154K Substitution - coding silent 4:25388735-25388735 + GC8_T COSM149659 c.2331G>T p.S777S Substitution - coding silent 4:25418286-25418286 + TCGA-AA-A00K-01 COSM298424 c.45A>C p.G15G Substitution - coding silent 4:25377472-25377472 + TCGA-EE-A29V-06 COSM3603082 c.1133C>T p.P378L Substitution - Missense 4:25396735-25396735 + 254 COSM3731521 c.1724+8T>G p.? Unknown 4:25414512-25414512 + HCT8 COSM4635133 c.206C>T p.T69M Substitution - Missense 4:25380450-25380450 + D10 COSM5007014 c.2129A>G p.H710R Substitution - Missense 4:25417669-25417669 + 88_T COSM3946293 c.442A>C p.N148H Substitution - Missense 4:25388573-25388573 + D20 COSM5007850 c.1399G>A p.G467R Substitution - Missense 4:25407221-25407221 + 53M COSM3603078 c.30C>T p.S10S Substitution - coding silent 4:25377457-25377457 + T2769 COSM4661489 c.1414G>A p.V472I Substitution - Missense 4:25407236-25407236 + PD3904a COSM219197 c.2133G>C p.W711C Substitution - Missense 4:25417673-25417673 + M001-PB COSM1738952 c.985-7T>A p.? Unknown 4:25394822-25394822 + 331 COSM1742138 c.2276A>T p.D759V Substitution - Missense 4:25418231-25418231 + RK26-R3 COSM4411017 c.404C>G p.S135* Substitution - Nonsense 4:25388535-25388535 + TCGA-D3-A3C7-06 COSM3603078 c.30C>T p.S10S Substitution - coding silent 4:25377457-25377457 + TCGA-AG-A002-01 COSM259416 c.1714T>A p.F572I Substitution - Missense 4:25414494-25414494 + CPCG0098-F1 COSM4880239 c.1404A>G p.K468K Substitution - coding silent 4:25407226-25407226 + Gp5D COSM3133294 c.1524A>G p.K508K Substitution - coding silent 4:25409790-25409790 + J85_T COSM3946294 c.2377C>A p.P793T Substitution - Missense 4:25418332-25418332 + TCGA-DK-A3WW-01 COSM3775775 c.2182C>T p.R728* Substitution - Nonsense 4:25417722-25417722 + 01-P459 COSM4585019 c.1944T>C p.T648T Substitution - coding silent 4:25416467-25416467 + Pat_45_B COSM5866231 c.566C>T p.A189V Substitution - Missense 4:25390186-25390186 + T578 COSM4661486 c.496A>C p.K166Q Substitution - Missense 4:25388863-25388863 + RK26-R1 COSM4411017 c.404C>G p.S135* Substitution - Nonsense 4:25388535-25388535 + TCGA-AB-2840-03 COSM1319344 c.236-2A>T p.? Unknown 4:25383259-25383259 + TCGA-AK-3465-01 COSM1495801 c.2200-2A>T p.? Unknown 4:25418153-25418153 + RMS2030 COSM5880515 c.1607G>C p.C536S Substitution - Missense 4:25413726-25413726 + TCGA-D3-A5GS-06 COSM3603083 c.1725-1G>A p.? Unknown 4:25414598-25414598 + TCGA-F5-6814-01 COSM3428446 c.250C>T p.L84F Substitution - Missense 4:25383275-25383275 + HCC20T COSM3661040 c.2107C>T p.R703C Substitution - Missense 4:25417647-25417647 + Co74 COSM33080 c.463A>G p.I155V Substitution - Missense 4:25388736-25388736 + RK26-R4 COSM4411017 c.404C>G p.S135* Substitution - Nonsense 4:25388535-25388535 + TCGA-09-2045-01 COSM69632 c.658G>C p.V220L Substitution - Missense 4:25390968-25390968 + P60 COSM5008428 c.1848T>A p.I616I Substitution - coding silent 4:25415487-25415487 + T3262 COSM4661488 c.1256G>A p.R419Q Substitution - Missense 4:25403012-25403012 + TCGA-A8-A09Z-01 COSM3825716 c.573A>G p.G191G Substitution - coding silent 4:25390193-25390193 + TCGA-21-5787-01 COSM733655 c.556G>T p.E186* Substitution - Nonsense 4:25390176-25390176 + T155 COSM1177374 c.1158C>T p.I386I Substitution - coding silent 4:25396760-25396760 + HCC20 COSM3661040 c.2107C>T p.R703C Substitution - Missense 4:25417647-25417647 + TCGA-D8-A1XQ-01 COSM5225464 c.438delA p.N148fs*67 Deletion - Frameshift 4:25388569-25388569 + TCGA-AA-A00N-01 COSM273965 c.463A>C p.I155L Substitution - Missense 4:25388736-25388736 + PCSI_0038_Pa_X COSM5420011 c.1394G>A p.R465Q Substitution - Missense 4:25407216-25407216 + Pat_22_B COSM5866232 c.1126T>C p.Y376H Substitution - Missense 4:25396728-25396728 + YUKAT COSM5401048 c.173T>C p.F58S Substitution - Missense 4:25380417-25380417 + 1T COSM109115 c.1543C>T p.P515S Substitution - Missense 4:25413662-25413662 + TCGA-AK-3427-01 COSM1319344 c.236-2A>T p.? Unknown 4:25383259-25383259 + TCGA-AZ-6601-01 COSM3760559 c.1068G>A p.S356S Substitution - coding silent 4:25396670-25396670 + TCGA-81-5910-01 COSM3409238 c.1685+2T>C p.? Unknown 4:25414387-25414387 + 3N44-VS-3T44 COSM4982283 c.15G>T p.P5P Substitution - coding silent 4:25377442-25377442 + 46M COSM5401050 c.1640C>T p.S547L Substitution - Missense 4:25414340-25414340 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.152173 4p15.2 606947

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.G15G c.45A>C 4 25379094 COREAD A - Frameshift p.V674Yfs*20 c.2019delA 4 25418164 RCCC A G 3-UTRSNV . c.2424+42A>G 4 25420043 ESCA A G IntronicSNV . c.2200-61A>G 4 25419716 CM A G Missense p.D694G c.2081A>G 4 25419243 LUSC A G Missense p.I155V c.463A>G 4 25390358 COREAD A G Missense p.N61S c.182A>G 4 25382048 LUAD A G Synonymous p.K154K c.462A>G 4 25390357 COREAD A G Synonymous p.R632R c.1896A>G 4 25417157 OV A - IntronicDeletion . c.369-140delA 4 25389982 ESCA A T Missense p.K17M c.50A>T 4 25379099 COREAD C A Missense p.Q405K c.1213C>A 4 25398520 CM C A Missense p.S395Y c.1184C>A 4 25398491 CM - C Frameshift p.E357Gfs*9 c.1067dupC 4 25398291 BRCA C T IntronicSNV . c.1061+68C>T 4 25396595 MB C T IntronicSNV . c.1686-14C>T 4 25416074 CM C T IntronicSNV . c.2075+141C>T 4 25418361 CM C T Missense p.P20L c.59C>T 4 25379108 CM C T Missense p.P378L c.1133C>T 4 25398357 CM C T Missense p.P555L c.1664C>T 4 25415986 CM C T Missense p.R12W c.34C>T 4 25379083 CM C T Missense p.R250W c.748C>T 4 25394002 UCEC C T Missense p.R739C c.2215C>T 4 25419792 CM C T Missense p.S736L c.2207C>T 4 25419784 CM C T Synonymous p.A764A c.2292C>T 4 25419869 CM C T Synonymous p.P30P c.90C>T 4 25379139 CM C T Synonymous p.S10S c.30C>T 4 25379079 CM C T Synonymous p.V27V c.81C>T 4 25379130 COREAD G A IntronicSNV . c.1901+295G>A 4 25417457 ALL G A Synonymous p.E107E c.321G>A 4 25384968 CM G C Missense p.Q282H c.846G>C 4 25395483 BLCA G C Missense p.V220L c.658G>C 4 25392590 OV G T Missense p.L671F c.2013G>T 4 25418158 PAAD G T Missense p.Q335H c.1005G>T 4 25396471 GBM G T Nonsense p.E186* c.556G>T 4 25391798 LUSC G T Nonsense p.E293* c.877G>T 4 25395932 BRCA G T SpliceAcceptorSNV . c.1375-1G>T 4 25408818 LUAD G T SpliceDonorSNV . c.1431+1G>T 4 25408876 BRCA T A IntronicSNV . c.1061+224T>A 4 25396751 HC T C Missense p.L79P c.236T>C 4 25384883 HNSC T C SpliceDonorSNV . c.1685+2T>C 4 25416009 GBM T - Frameshift p.P5Rfs*64 c.12delT 4 25379058 CM