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 165962195 165962195 + Missense_Mutation SNP G G A TCGA-OR-A5LO-01A-11D-A29I-10 TCGA-OR-A5LO-10A-01D-A29L-10 g.chr4:165962195G>A c.971G>A c.(970-972)cGa>cAa p.R324Q BLCA 4 165961555 165961555 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 g.chr4:165961555G>A c.331G>A c.(331-333)Gat>Aat p.D111N BLCA 4 165961621 165961621 + Missense_Mutation SNP A A G TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr4:165961621A>G c.397A>G c.(397-399)Att>Gtt p.I133V BLCA 4 165961669 165961669 + Missense_Mutation SNP G G C TCGA-4Z-AA89-01A-11D-A391-08 TCGA-4Z-AA89-10A-01D-A394-08 g.chr4:165961669G>C c.445G>C c.(445-447)Gag>Cag p.E149Q BLCA 4 165962176 165962176 + Nonsense_Mutation SNP C C T TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr4:165962176C>T c.952C>T c.(952-954)Cga>Tga p.R318* BLCA 4 165962443 165962443 + Silent SNP C C T TCGA-G2-AA3D-01A-11D-A391-08 TCGA-G2-AA3D-10A-01D-A394-08 g.chr4:165962443C>T c.1219C>T c.(1219-1221)Ctg>Ttg p.L407L BLCA 4 165962632 165962632 + Missense_Mutation SNP G G C TCGA-XF-AAN5-01A-11D-A42E-08 TCGA-XF-AAN5-10A-01D-A42H-08 g.chr4:165962632G>C c.1408G>C c.(1408-1410)Gaa>Caa p.E470Q BRCA 4 165961479 165961479 + Silent SNP G G A TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 g.chr4:165961479G>A c.255G>A c.(253-255)agG>agA p.R85R BRCA 4 165961497 165961497 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 g.chr4:165961497G>A c.273G>A c.(271-273)caG>caA p.Q91Q BRCA 4 165961589 165961589 + Missense_Mutation SNP C C A TCGA-A8-A099-01A-11W-A019-09 TCGA-A8-A099-10A-01W-A021-09 g.chr4:165961589C>A c.365C>A c.(364-366)tCc>tAc p.S122Y BRCA 4 165961691 165961691 + Missense_Mutation SNP A A G TCGA-AR-A24L-01A-11D-A167-09 TCGA-AR-A24L-10A-01D-A167-09 g.chr4:165961691A>G c.467A>G c.(466-468)gAa>gGa p.E156G BRCA 4 165962158 165962158 + Missense_Mutation SNP G G C TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 g.chr4:165962158G>C c.934G>C c.(934-936)Gag>Cag p.E312Q COAD 4 165961383 165961383 + Nonsense_Mutation SNP T T A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr4:165961383T>A c.159T>A c.(157-159)tgT>tgA p.C53* COAD 4 165961393 165961393 + Missense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr4:165961393C>T c.169C>T c.(169-171)Cgt>Tgt p.R57C COAD 4 165961416 165961416 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:165961416C>T c.192C>T c.(190-192)agC>agT p.S64S COAD 4 165961535 165961535 + Missense_Mutation SNP T T G TCGA-A6-6137-01A-11D-1771-10 TCGA-A6-6137-10A-01D-1806-10 g.chr4:165961535T>G c.311T>G c.(310-312)cTg>cGg p.L104R COAD 4 165961792 165961792 + Missense_Mutation SNP A A G TCGA-CM-6164-01A-11D-1650-10 TCGA-CM-6164-10A-01D-1650-10 g.chr4:165961792A>G c.568A>G c.(568-570)Ata>Gta p.I190V COAD 4 165961881 165961881 + Missense_Mutation SNP C C A TCGA-F4-6459-01A-11D-1771-10 TCGA-F4-6459-10A-01D-1771-10 g.chr4:165961881C>A c.657C>A c.(655-657)aaC>aaA p.N219K COAD 4 165962037 165962037 + Silent SNP A A G TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr4:165962037A>G c.813A>G c.(811-813)agA>agG p.R271R COAD 4 165962187 165962187 + Frame_Shift_Del DEL A A - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr4:165962187delA c.963delA c.(961-963)agafs p.R321fs COAD 4 165962222 165962222 + Missense_Mutation SNP T T G TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr4:165962222T>G c.998T>G c.(997-999)tTt>tGt p.F333C COAD 4 165962379 165962379 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr4:165962379C>A c.1155C>A c.(1153-1155)ttC>ttA p.F385L COAD 4 165962393 165962393 + Missense_Mutation SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr4:165962393G>A c.1169G>A c.(1168-1170)cGa>cAa p.R390Q COAD 4 165962417 165962417 + Missense_Mutation SNP C C T TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr4:165962417C>T c.1193C>T c.(1192-1194)gCg>gTg p.A398V COAD 4 165962541 165962541 + Silent SNP T T G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:165962541T>G c.1317T>G c.(1315-1317)acT>acG p.T439T COADREAD 4 165961383 165961383 + Nonsense_Mutation SNP T T A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr4:165961383T>A c.159T>A c.(157-159)tgT>tgA p.C53* COADREAD 4 165961393 165961393 + Missense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr4:165961393C>T c.169C>T c.(169-171)Cgt>Tgt p.R57C COADREAD 4 165961416 165961416 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:165961416C>T c.192C>T c.(190-192)agC>agT p.S64S COADREAD 4 165961535 165961535 + Missense_Mutation SNP T T G TCGA-A6-6137-01A-11D-1771-10 TCGA-A6-6137-10A-01D-1806-10 g.chr4:165961535T>G c.311T>G c.(310-312)cTg>cGg p.L104R COADREAD 4 165961792 165961792 + Missense_Mutation SNP A A G TCGA-CM-6164-01A-11D-1650-10 TCGA-CM-6164-10A-01D-1650-10 g.chr4:165961792A>G c.568A>G c.(568-570)Ata>Gta p.I190V COADREAD 4 165961881 165961881 + Missense_Mutation SNP C C A TCGA-F4-6459-01A-11D-1771-10 TCGA-F4-6459-10A-01D-1771-10 g.chr4:165961881C>A c.657C>A c.(655-657)aaC>aaA p.N219K COADREAD 4 165962036 165962036 + Missense_Mutation SNP G G T TCGA-F5-6464-01A-11D-1733-10 TCGA-F5-6464-10A-01D-1733-10 g.chr4:165962036G>T c.812G>T c.(811-813)aGa>aTa p.R271I COADREAD 4 165962037 165962037 + Silent SNP A A G TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr4:165962037A>G c.813A>G c.(811-813)agA>agG p.R271R COADREAD 4 165962187 165962187 + Frame_Shift_Del DEL A A - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr4:165962187delA c.963delA c.(961-963)agafs p.R321fs COADREAD 4 165962195 165962195 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:165962195G>A c.971G>A c.(970-972)cGa>cAa p.R324Q COADREAD 4 165962222 165962222 + Missense_Mutation SNP T T G TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr4:165962222T>G c.998T>G c.(997-999)tTt>tGt p.F333C COADREAD 4 165962379 165962379 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr4:165962379C>A c.1155C>A c.(1153-1155)ttC>ttA p.F385L COADREAD 4 165962393 165962393 + Missense_Mutation SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr4:165962393G>A c.1169G>A c.(1168-1170)cGa>cAa p.R390Q COADREAD 4 165962417 165962417 + Missense_Mutation SNP C C T TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr4:165962417C>T c.1193C>T c.(1192-1194)gCg>gTg p.A398V COADREAD 4 165962541 165962541 + Silent SNP T T G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:165962541T>G c.1317T>G c.(1315-1317)acT>acG p.T439T COADREAD 4 165962580 165962580 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:165962580C>A c.1356C>A c.(1354-1356)ttC>ttA p.F452L ESCA 4 165961334 165961334 + Missense_Mutation SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 g.chr4:165961334G>A c.110G>A c.(109-111)cGc>cAc p.R37H ESCA 4 165961854 165961854 + Missense_Mutation SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr4:165961854G>A c.630G>A c.(628-630)atG>atA p.M210I ESCA 4 165962177 165962177 + Missense_Mutation SNP G G T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 g.chr4:165962177G>T c.953G>T c.(952-954)cGa>cTa p.R318L ESCA 4 165962598 165962598 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 g.chr4:165962598C>T c.1374C>T c.(1372-1374)tcC>tcT p.S458S GBMLGG 4 165961663 165961663 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:165961663A>G c.439A>G c.(439-441)Agc>Ggc p.S147G GBMLGG 4 165962269 165962269 + Nonsense_Mutation SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 g.chr4:165962269C>T c.1045C>T c.(1045-1047)Cga>Tga p.R349* GBMLGG 4 165962517 165962517 + Missense_Mutation SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 g.chr4:165962517G>A c.1293G>A c.(1291-1293)atG>atA p.M431I HNSC 4 165961346 165961346 + Missense_Mutation SNP G G A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 g.chr4:165961346G>A c.122G>A c.(121-123)aGt>aAt p.S41N HNSC 4 165961778 165961778 + Missense_Mutation SNP C C T TCGA-CN-A6UY-01A-12D-A34J-08 TCGA-CN-A6UY-10B-01D-A34M-08 g.chr4:165961778C>T c.554C>T c.(553-555)tCt>tTt p.S185F HNSC 4 165962140 165962140 + Missense_Mutation SNP C C A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 g.chr4:165962140C>A c.916C>A c.(916-918)Cct>Act p.P306T HNSC 4 165962216 165962216 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr4:165962216G>A c.992G>A c.(991-993)aGg>aAg p.R331K HNSC 4 165962293 165962293 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr4:165962293G>A c.1069G>A c.(1069-1071)Gga>Aga p.G357R LGG 4 165961663 165961663 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:165961663A>G c.439A>G c.(439-441)Agc>Ggc p.S147G LGG 4 165962269 165962269 + Nonsense_Mutation SNP C C T TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 g.chr4:165962269C>T c.1045C>T c.(1045-1047)Cga>Tga p.R349* LGG 4 165962517 165962517 + Missense_Mutation SNP G G A TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 g.chr4:165962517G>A c.1293G>A c.(1291-1293)atG>atA p.M431I LIHC 4 165962511 165962511 + Frame_Shift_Del DEL T T - TCGA-DD-AAC8-01A-11D-A40R-10 TCGA-DD-AAC8-10A-01D-A40U-10 g.chr4:165962511delT c.1287delT c.(1285-1287)tatfs p.Y429fs LIHC 4 165962541 165962541 + Silent SNP T T C TCGA-G3-A3CG-01A-11D-A20W-10 TCGA-G3-A3CG-10A-01D-A20W-10 g.chr4:165962541T>C c.1317T>C c.(1315-1317)acT>acC p.T439T LIHC 4 165962559 165962559 + Silent SNP A A T TCGA-UB-A7MA-01A-11D-A33Q-10 TCGA-UB-A7MA-10A-01D-A33Q-10 g.chr4:165962559A>T c.1335A>T c.(1333-1335)acA>acT p.T445T LUAD 4 165961387 165961387 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 g.chr4:165961387G>T c.163G>T c.(163-165)Gtc>Ttc p.V55F LUAD 4 165961462 165961462 + Missense_Mutation SNP C C A TCGA-55-A494-01A-11D-A24P-08 TCGA-55-A494-10A-01D-A24P-08 g.chr4:165961462C>A c.238C>A c.(238-240)Caa>Aaa p.Q80K LUAD 4 165961467 165961467 + Silent SNP C C A TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr4:165961467C>A c.243C>A c.(241-243)ctC>ctA p.L81L LUAD 4 165961514 165961514 + Missense_Mutation SNP G G T TCGA-73-4677-01A-01D-1265-08 TCGA-73-4677-11A-01D-1265-08 g.chr4:165961514G>T c.290G>T c.(289-291)tGt>tTt p.C97F LUAD 4 165961674 165961674 + Silent SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr4:165961674C>T c.450C>T c.(448-450)ccC>ccT p.P150P LUAD 4 165961707 165961707 + Silent SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 g.chr4:165961707G>A c.483G>A c.(481-483)gtG>gtA p.V161V LUAD 4 165961743 165961743 + Silent SNP A A G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 g.chr4:165961743A>G c.519A>G c.(517-519)aaA>aaG p.K173K LUAD 4 165962485 165962485 + Missense_Mutation SNP T T A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr4:165962485T>A c.1261T>A c.(1261-1263)Tat>Aat p.Y421N LUAD 4 165962548 165962548 + Missense_Mutation SNP G G T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 g.chr4:165962548G>T c.1324G>T c.(1324-1326)Gat>Tat p.D442Y LUAD 4 165962566 165962566 + Missense_Mutation SNP G G A TCGA-44-2665-01A-01D-1040-01 TCGA-44-2665-10A-01D-1040-01 g.chr4:165962566G>A c.1342G>A c.(1342-1344)Gtt>Att p.V448I LUAD 4 165962618 165962618 + Nonsense_Mutation SNP C C G TCGA-55-A48Y-01A-11D-A24D-08 TCGA-55-A48Y-10A-01D-A24F-08 g.chr4:165962618C>G c.1394C>G c.(1393-1395)tCa>tGa p.S465* LUSC 4 165961430 165961430 + Missense_Mutation SNP C C T TCGA-37-4133-01A-01D-1352-08 TCGA-37-4133-10A-01D-1352-08 g.chr4:165961430C>T c.206C>T c.(205-207)cCc>cTc p.P69L LUSC 4 165961611 165961611 + Silent SNP C C T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 g.chr4:165961611C>T c.387C>T c.(385-387)taC>taT p.Y129Y LUSC 4 165962132 165962132 + Missense_Mutation SNP C C A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 g.chr4:165962132C>A c.908C>A c.(907-909)aCa>aAa p.T303K LUSC 4 165962382 165962382 + Nonsense_Mutation SNP G G A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr4:165962382G>A c.1158G>A c.(1156-1158)tgG>tgA p.W386* OV 4 165962417 165962417 + Missense_Mutation SNP C C T TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 g.chr4:165962417C>T c.1193C>T c.(1192-1194)gCg>gTg p.A398V PAAD 4 165962020 165962020 + Nonsense_Mutation SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr4:165962020G>T c.796G>T c.(796-798)Gaa>Taa p.E266* PAAD 4 165962546 165962546 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:165962546A>G c.1322A>G c.(1321-1323)aAc>aGc p.N441S PRAD 4 165962457 165962457 + Silent SNP A A G TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr4:165962457A>G c.1233A>G c.(1231-1233)aaA>aaG p.K411K PRAD 4 165962535 165962535 + Silent SNP C C G TCGA-J9-A8CL-01A-11D-A34U-08 TCGA-J9-A8CL-10A-01D-A34X-08 g.chr4:165962535C>G c.1311C>G c.(1309-1311)ctC>ctG p.L437L READ 4 165962036 165962036 + Missense_Mutation SNP G G T TCGA-F5-6464-01A-11D-1733-10 TCGA-F5-6464-10A-01D-1733-10 g.chr4:165962036G>T c.812G>T c.(811-813)aGa>aTa p.R271I READ 4 165962195 165962195 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:165962195G>A c.971G>A c.(970-972)cGa>cAa p.R324Q READ 4 165962580 165962580 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:165962580C>A c.1356C>A c.(1354-1356)ttC>ttA p.F452L SKCM 4 165961274 165961274 + Missense_Mutation SNP C C T TCGA-GN-A262-06A-11D-A196-08 TCGA-GN-A262-10A-01D-A198-08 g.chr4:165961274C>T c.50C>T c.(49-51)cCc>cTc p.P17L SKCM 4 165961311 165961311 + Silent SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr4:165961311C>T c.87C>T c.(85-87)atC>atT p.I29I SKCM 4 165961360 165961360 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr4:165961360G>A c.136G>A c.(136-138)Gat>Aat p.D46N SKCM 4 165961379 165961379 + Missense_Mutation SNP C C T TCGA-EE-A29T-06A-11D-A197-08 TCGA-EE-A29T-10A-01D-A199-08 g.chr4:165961379C>T c.155C>T c.(154-156)cCc>cTc p.P52L SKCM 4 165961516 165961516 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr4:165961516G>A c.292G>A c.(292-294)Gaa>Aaa p.E98K SKCM 4 165961679 165961679 + Missense_Mutation SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr4:165961679G>A c.455G>A c.(454-456)aGg>aAg p.R152K SKCM 4 165961962 165961962 + Silent SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr4:165961962G>A c.738G>A c.(736-738)ctG>ctA p.L246L SKCM 4 165962087 165962087 + Missense_Mutation SNP G G A TCGA-EE-A2GH-06A-11D-A196-08 TCGA-EE-A2GH-10A-01D-A198-08 g.chr4:165962087G>A c.863G>A c.(862-864)aGa>aAa p.R288K SKCM 4 165962177 165962177 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr4:165962177G>A c.953G>A c.(952-954)cGa>cAa p.R318Q SKCM 4 165962177 165962177 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr4:165962177G>A c.953G>A c.(952-954)cGa>cAa p.R318Q SKCM 4 165962195 165962195 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr4:165962195G>A c.971G>A c.(970-972)cGa>cAa p.R324Q SKCM 4 165962195 165962195 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:165962195G>A c.971G>A c.(970-972)cGa>cAa p.R324Q SKCM 4 165962255 165962255 + Missense_Mutation SNP G G A TCGA-FS-A1ZF-06A-12D-A197-08 TCGA-FS-A1ZF-10A-01D-A199-08 g.chr4:165962255G>A c.1031G>A c.(1030-1032)aGa>aAa p.R344K SKCM 4 165962309 165962309 + Nonsense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 g.chr4:165962309G>A c.1085G>A c.(1084-1086)tGg>tAg p.W362* SKCM 4 165962425 165962425 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:165962425C>T c.1201C>T c.(1201-1203)Cct>Tct p.P401S SKCM 4 165962460 165962460 + Silent SNP C C T TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr4:165962460C>T c.1236C>T c.(1234-1236)ccC>ccT p.P412P SKCM 4 165962504 165962504 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:165962504C>T c.1280C>T c.(1279-1281)tCc>tTc p.S427F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 4 165961487 165961487 single base substitution G C missense_variant R88T 263G>C BLCA-CN 4 165961557 165961557 single base substitution T A downstream_gene_variant BLCA-CN 4 165961557 165961557 single base substitution T A missense_variant D111E 333T>A BLCA-US 4 165961621 165961621 single base substitution A G downstream_gene_variant BLCA-US 4 165961621 165961621 single base substitution A G missense_variant I133V 397A>G BRCA-EU 4 165952119 165952119 single base substitution T C upstream_gene_variant BRCA-EU 4 165952299 165952299 single base substitution C T upstream_gene_variant BRCA-EU 4 165952450 165952450 single base substitution A C upstream_gene_variant BRCA-EU 4 165952768 165952768 single base substitution C G upstream_gene_variant BRCA-EU 4 165953184 165953184 single base substitution G C 5_prime_UTR_variant BRCA-EU 4 165953405 165953405 deletion of <=200bp T - intron_variant BRCA-EU 4 165953447 165953447 single base substitution C T intron_variant BRCA-EU 4 165954685 165954685 single base substitution C A intron_variant BRCA-EU 4 165955006 165955006 single base substitution G C intron_variant BRCA-EU 4 165955217 165955217 single base substitution G A intron_variant BRCA-EU 4 165955542 165955542 single base substitution G A intron_variant BRCA-EU 4 165955542 165955542 single base substitution G A upstream_gene_variant BRCA-EU 4 165956231 165956231 deletion of <=200bp T - intron_variant BRCA-EU 4 165956231 165956231 deletion of <=200bp T - upstream_gene_variant BRCA-EU 4 165957854 165957854 single base substitution G A intron_variant BRCA-EU 4 165957854 165957854 single base substitution G A upstream_gene_variant BRCA-EU 4 165958121 165958121 single base substitution G A intron_variant BRCA-EU 4 165958121 165958121 single base substitution G A upstream_gene_variant BRCA-EU 4 165958280 165958280 single base substitution G A intron_variant BRCA-EU 4 165958280 165958280 single base substitution G A upstream_gene_variant BRCA-EU 4 165959537 165959537 single base substitution T C intron_variant BRCA-EU 4 165959537 165959537 single base substitution T C upstream_gene_variant BRCA-EU 4 165960003 165960003 single base substitution G C intron_variant BRCA-EU 4 165960003 165960003 single base substitution G C upstream_gene_variant BRCA-EU 4 165960022 165960022 single base substitution T A intron_variant BRCA-EU 4 165960022 165960022 single base substitution T A upstream_gene_variant BRCA-EU 4 165960041 165960041 single base substitution C G intron_variant BRCA-EU 4 165960041 165960041 single base substitution C G upstream_gene_variant BRCA-EU 4 165960457 165960457 single base substitution G A intron_variant BRCA-EU 4 165960943 165960943 single base substitution C T intron_variant BRCA-EU 4 165961333 165961333 single base substitution C A missense_variant R37S 109C>A BRCA-EU 4 165962130 165962130 single base substitution C G downstream_gene_variant BRCA-EU 4 165962130 165962130 single base substitution C G missense_variant N302K 906C>G BRCA-EU 4 165963390 165963390 single base substitution A C downstream_gene_variant BRCA-EU 4 165963464 165963464 single base substitution A G downstream_gene_variant BRCA-EU 4 165964014 165964014 single base substitution C T downstream_gene_variant BRCA-EU 4 165965380 165965380 single base substitution G C downstream_gene_variant BRCA-EU 4 165966206 165966206 single base substitution T C downstream_gene_variant BRCA-EU 4 165966453 165966453 single base substitution G C downstream_gene_variant BRCA-EU 4 165967002 165967002 single base substitution T G downstream_gene_variant BRCA-EU 4 165967637 165967637 single base substitution G A downstream_gene_variant BRCA-EU 4 165967638 165967638 single base substitution G A downstream_gene_variant BRCA-FR 4 165958121 165958121 single base substitution G A intron_variant BRCA-FR 4 165958121 165958121 single base substitution G A upstream_gene_variant BRCA-FR 4 165965380 165965380 single base substitution G C downstream_gene_variant BRCA-FR 4 165966453 165966453 single base substitution G C downstream_gene_variant BRCA-UK 4 165955006 165955006 single base substitution G C intron_variant BRCA-US 4 165961479 165961479 single base substitution G A synonymous_variant R85R 255G>A BRCA-US 4 165961497 165961497 single base substitution G A downstream_gene_variant BRCA-US 4 165961497 165961497 single base substitution G A synonymous_variant Q91Q 273G>A BRCA-US 4 165961589 165961589 single base substitution C A downstream_gene_variant BRCA-US 4 165961589 165961589 single base substitution C A missense_variant S122Y 365C>A BRCA-US 4 165961691 165961691 single base substitution A G downstream_gene_variant BRCA-US 4 165961691 165961691 single base substitution A G missense_variant E156G 467A>G BRCA-US 4 165962158 165962158 single base substitution G C downstream_gene_variant BRCA-US 4 165962158 165962158 single base substitution G C missense_variant E312Q 934G>C BRCA-US 4 165962604 165962604 single base substitution T C downstream_gene_variant BRCA-US 4 165962604 165962604 single base substitution T C synonymous_variant P460P 1380T>C COAD-US 4 165961383 165961383 single base substitution T A stop_gained C53* 159T>A COAD-US 4 165961393 165961393 single base substitution C T missense_variant R57C 169C>T COAD-US 4 165961535 165961535 single base substitution T G downstream_gene_variant COAD-US 4 165961535 165961535 single base substitution T G missense_variant L104R 311T>G COAD-US 4 165961792 165961792 single base substitution A G downstream_gene_variant COAD-US 4 165961792 165961792 single base substitution A G missense_variant I190V 568A>G COAD-US 4 165961881 165961881 single base substitution C A downstream_gene_variant COAD-US 4 165961881 165961881 single base substitution C A missense_variant N219K 657C>A COAD-US 4 165961988 165961988 single base substitution T G downstream_gene_variant COAD-US 4 165961988 165961988 single base substitution T G missense_variant M255R 764T>G COAD-US 4 165962187 165962187 deletion of <=200bp A - downstream_gene_variant COAD-US 4 165962187 165962187 deletion of <=200bp A - frameshift_variant R321 COAD-US 4 165962379 165962379 single base substitution C A downstream_gene_variant COAD-US 4 165962379 165962379 single base substitution C A missense_variant F385L 1155C>A COAD-US 4 165962417 165962417 single base substitution C T downstream_gene_variant COAD-US 4 165962417 165962417 single base substitution C T missense_variant A398V 1193C>T COCA-CN 4 165962005 165962005 single base substitution A C downstream_gene_variant COCA-CN 4 165962005 165962005 single base substitution A C missense_variant N261H 781A>C COCA-CN 4 165962475 165962475 single base substitution T G downstream_gene_variant COCA-CN 4 165962475 165962475 single base substitution T G missense_variant I417M 1251T>G EOPC-DE 4 165954811 165954811 single base substitution G C intron_variant ESAD-UK 4 165948528 165948528 single base substitution T G upstream_gene_variant ESAD-UK 4 165949457 165949457 single base substitution T C upstream_gene_variant ESAD-UK 4 165949608 165949608 single base substitution A G upstream_gene_variant ESAD-UK 4 165949891 165949891 single base substitution C A upstream_gene_variant ESAD-UK 4 165950328 165950328 single base substitution C A upstream_gene_variant ESAD-UK 4 165951029 165951029 single base substitution T A upstream_gene_variant ESAD-UK 4 165951527 165951527 single base substitution T C upstream_gene_variant ESAD-UK 4 165952186 165952186 insertion of <=200bp - C upstream_gene_variant ESAD-UK 4 165952538 165952538 single base substitution G A upstream_gene_variant ESAD-UK 4 165953073 165953073 single base substitution C T upstream_gene_variant ESAD-UK 4 165953172 165953172 single base substitution C G 5_prime_UTR_variant ESAD-UK 4 165953515 165953515 single base substitution C G intron_variant ESAD-UK 4 165953625 165953625 single base substitution T G intron_variant ESAD-UK 4 165953713 165953713 single base substitution C T intron_variant ESAD-UK 4 165953881 165953881 single base substitution G A intron_variant ESAD-UK 4 165954066 165954066 single base substitution C T intron_variant ESAD-UK 4 165954852 165954852 single base substitution G T intron_variant ESAD-UK 4 165955078 165955078 single base substitution C T intron_variant ESAD-UK 4 165955654 165955654 single base substitution A C intron_variant ESAD-UK 4 165955654 165955654 single base substitution A C upstream_gene_variant ESAD-UK 4 165956100 165956100 deletion of <=200bp T - intron_variant ESAD-UK 4 165956100 165956100 deletion of <=200bp T - upstream_gene_variant ESAD-UK 4 165956189 165956189 single base substitution A G intron_variant ESAD-UK 4 165956189 165956189 single base substitution A G upstream_gene_variant ESAD-UK 4 165956869 165956869 deletion of <=200bp T - intron_variant ESAD-UK 4 165956869 165956869 deletion of <=200bp T - upstream_gene_variant ESAD-UK 4 165956961 165956961 single base substitution G T intron_variant ESAD-UK 4 165956961 165956961 single base substitution G T upstream_gene_variant ESAD-UK 4 165957416 165957416 single base substitution C A intron_variant ESAD-UK 4 165957416 165957416 single base substitution C A upstream_gene_variant ESAD-UK 4 165957570 165957570 insertion of <=200bp - T intron_variant ESAD-UK 4 165957570 165957570 insertion of <=200bp - T upstream_gene_variant ESAD-UK 4 165957649 165957649 single base substitution G T intron_variant ESAD-UK 4 165957649 165957649 single base substitution G T upstream_gene_variant ESAD-UK 4 165958143 165958143 single base substitution T C intron_variant ESAD-UK 4 165958143 165958143 single base substitution T C upstream_gene_variant ESAD-UK 4 165958216 165958216 single base substitution G A intron_variant ESAD-UK 4 165958216 165958216 single base substitution G A upstream_gene_variant ESAD-UK 4 165958450 165958450 single base substitution C T intron_variant ESAD-UK 4 165958450 165958450 single base substitution C T upstream_gene_variant ESAD-UK 4 165959870 165959870 single base substitution G A intron_variant ESAD-UK 4 165959870 165959870 single base substitution G A upstream_gene_variant ESAD-UK 4 165960660 165960660 single base substitution G A 5_prime_UTR_variant ESAD-UK 4 165960660 165960660 single base substitution G A intron_variant ESAD-UK 4 165961257 165961257 single base substitution A G synonymous_variant Q11Q 33A>G ESAD-UK 4 165961943 165961943 single base substitution A G downstream_gene_variant ESAD-UK 4 165961943 165961943 single base substitution A G missense_variant K240R 719A>G ESAD-UK 4 165962283 165962285 deletion of <=200bp AGT - downstream_gene_variant ESAD-UK 4 165962283 165962285 deletion of <=200bp AGT - inframe_deletion EV353E ESAD-UK 4 165962441 165962441 single base substitution T G downstream_gene_variant ESAD-UK 4 165962441 165962441 single base substitution T G missense_variant L406R 1217T>G ESAD-UK 4 165963963 165963963 single base substitution A C downstream_gene_variant ESAD-UK 4 165965519 165965519 single base substitution A C downstream_gene_variant ESAD-UK 4 165965928 165965928 single base substitution A G downstream_gene_variant ESAD-UK 4 165966403 165966403 single base substitution A G downstream_gene_variant ESAD-UK 4 165966486 165966486 single base substitution C T downstream_gene_variant ESAD-UK 4 165966754 165966754 single base substitution G T downstream_gene_variant ESAD-UK 4 165966824 165966824 single base substitution T G downstream_gene_variant ESAD-UK 4 165967708 165967708 single base substitution A C downstream_gene_variant ESAD-UK 4 165967781 165967781 single base substitution A T downstream_gene_variant ESCA-CN 4 165961291 165961291 single base substitution T C synonymous_variant L23L 67T>C ESCA-CN 4 165962902 165962902 deletion of <=200bp T - downstream_gene_variant LAML-CN 4 165962500 165962500 single base substitution C A downstream_gene_variant LAML-CN 4 165962500 165962500 single base substitution C A missense_variant L426I 1276C>A LGG-US 4 165962269 165962269 single base substitution C T downstream_gene_variant LGG-US 4 165962269 165962269 single base substitution C T stop_gained R349* 1045C>T LGG-US 4 165962517 165962517 single base substitution G A downstream_gene_variant LGG-US 4 165962517 165962517 single base substitution G A missense_variant M431I 1293G>A LICA-CN 4 165961947 165961947 single base substitution T A downstream_gene_variant LICA-CN 4 165961947 165961947 single base substitution T A synonymous_variant S241S 723T>A LICA-FR 4 165951754 165951754 single base substitution A T upstream_gene_variant LICA-FR 4 165957518 165957518 single base substitution C A intron_variant LICA-FR 4 165957518 165957518 single base substitution C A upstream_gene_variant LICA-FR 4 165961573 165961573 single base substitution A T downstream_gene_variant LICA-FR 4 165961573 165961573 single base substitution A T missense_variant T117S 349A>T LICA-FR 4 165962482 165962482 single base substitution G T downstream_gene_variant LICA-FR 4 165962482 165962482 single base substitution G T missense_variant D420Y 1258G>T LIHC-US 4 165962556 165962556 single base substitution C T downstream_gene_variant LIHC-US 4 165962556 165962556 single base substitution C T synonymous_variant F444F 1332C>T LIHC-US 4 165962559 165962559 single base substitution A T downstream_gene_variant LIHC-US 4 165962559 165962559 single base substitution A T synonymous_variant T445T 1335A>T LINC-JP 4 165964431 165964431 single base substitution A G downstream_gene_variant LINC-JP 4 165967776 165967776 single base substitution C T downstream_gene_variant LIRI-JP 4 165948552 165948552 single base substitution G A upstream_gene_variant LIRI-JP 4 165949039 165949039 single base substitution A G upstream_gene_variant LIRI-JP 4 165950212 165950212 single base substitution G A upstream_gene_variant LIRI-JP 4 165950638 165950638 single base substitution C A upstream_gene_variant LIRI-JP 4 165952223 165952223 single base substitution C T upstream_gene_variant LIRI-JP 4 165953488 165953488 single base substitution C T intron_variant LIRI-JP 4 165953681 165953681 single base substitution G A intron_variant LIRI-JP 4 165955836 165955836 deletion of <=200bp A - intron_variant LIRI-JP 4 165955836 165955836 deletion of <=200bp A - upstream_gene_variant LIRI-JP 4 165956226 165956226 single base substitution C A intron_variant LIRI-JP 4 165956226 165956226 single base substitution C A upstream_gene_variant LIRI-JP 4 165956608 165956608 single base substitution A T intron_variant LIRI-JP 4 165956608 165956608 single base substitution A T upstream_gene_variant LIRI-JP 4 165956824 165956824 single base substitution A G intron_variant LIRI-JP 4 165956824 165956824 single base substitution A G upstream_gene_variant LIRI-JP 4 165957850 165957850 single base substitution T C intron_variant LIRI-JP 4 165957850 165957850 single base substitution T C upstream_gene_variant LIRI-JP 4 165959054 165959054 single base substitution T A intron_variant LIRI-JP 4 165959054 165959054 single base substitution T A upstream_gene_variant LIRI-JP 4 165963312 165963312 single base substitution A G downstream_gene_variant LIRI-JP 4 165963774 165963774 single base substitution G A downstream_gene_variant LIRI-JP 4 165964133 165964133 single base substitution T A downstream_gene_variant LIRI-JP 4 165965049 165965049 single base substitution T C downstream_gene_variant LUSC-KR 4 165950162 165950162 single base substitution C A upstream_gene_variant LUSC-KR 4 165954710 165954710 single base substitution T C intron_variant LUSC-KR 4 165955842 165955842 single base substitution C G intron_variant LUSC-KR 4 165955842 165955842 single base substitution C G upstream_gene_variant LUSC-KR 4 165958480 165958480 single base substitution T A intron_variant LUSC-KR 4 165958480 165958480 single base substitution T A upstream_gene_variant LUSC-KR 4 165962901 165962901 single base substitution A T downstream_gene_variant LUSC-KR 4 165963730 165963730 single base substitution T C downstream_gene_variant LUSC-KR 4 165965396 165965396 single base substitution C T downstream_gene_variant LUSC-KR 4 165967309 165967309 single base substitution T C downstream_gene_variant LUSC-US 4 165961430 165961430 single base substitution C T missense_variant P69L 206C>T LUSC-US 4 165961611 165961611 single base substitution C T downstream_gene_variant LUSC-US 4 165961611 165961611 single base substitution C T synonymous_variant Y129Y 387C>T LUSC-US 4 165962132 165962132 single base substitution C A downstream_gene_variant LUSC-US 4 165962132 165962132 single base substitution C A missense_variant T303K 908C>A LUSC-US 4 165962382 165962382 single base substitution G A downstream_gene_variant LUSC-US 4 165962382 165962382 single base substitution G A stop_gained W386* 1158G>A MALY-DE 4 165948666 165948666 single base substitution C T upstream_gene_variant MALY-DE 4 165948942 165948942 single base substitution A C upstream_gene_variant MALY-DE 4 165950408 165950408 single base substitution A C upstream_gene_variant MALY-DE 4 165953101 165953101 single base substitution G A upstream_gene_variant MALY-DE 4 165957861 165957861 single base substitution C T intron_variant MALY-DE 4 165957861 165957861 single base substitution C T upstream_gene_variant MALY-DE 4 165959537 165959537 single base substitution T C intron_variant MALY-DE 4 165959537 165959537 single base substitution T C upstream_gene_variant MALY-DE 4 165959859 165959859 single base substitution A G intron_variant MALY-DE 4 165959859 165959859 single base substitution A G upstream_gene_variant MALY-DE 4 165964243 165964243 single base substitution G A downstream_gene_variant MELA-AU 4 165948322 165948322 single base substitution C T upstream_gene_variant MELA-AU 4 165948342 165948342 single base substitution G A upstream_gene_variant MELA-AU 4 165948465 165948465 single base substitution C T upstream_gene_variant MELA-AU 4 165948556 165948556 single base substitution G A upstream_gene_variant MELA-AU 4 165948717 165948717 single base substitution G A upstream_gene_variant MELA-AU 4 165949017 165949017 single base substitution G A upstream_gene_variant MELA-AU 4 165949093 165949093 single base substitution G A upstream_gene_variant MELA-AU 4 165949138 165949138 single base substitution G A upstream_gene_variant MELA-AU 4 165949157 165949157 single base substitution C T upstream_gene_variant MELA-AU 4 165949355 165949355 single base substitution G A upstream_gene_variant MELA-AU 4 165949376 165949376 single base substitution G A upstream_gene_variant MELA-AU 4 165949525 165949525 single base substitution C T upstream_gene_variant MELA-AU 4 165949656 165949656 single base substitution C T upstream_gene_variant MELA-AU 4 165949824 165949824 single base substitution A G upstream_gene_variant MELA-AU 4 165949865 165949865 single base substitution G A upstream_gene_variant MELA-AU 4 165949925 165949925 single base substitution C T upstream_gene_variant MELA-AU 4 165949944 165949945 multiple base substitution (>=2bp and <=200bp) AG GA upstream_gene_variant MELA-AU 4 165950087 165950087 single base substitution C T upstream_gene_variant MELA-AU 4 165950111 165950111 single base substitution G A upstream_gene_variant MELA-AU 4 165950197 165950197 single base substitution G A upstream_gene_variant MELA-AU 4 165950251 165950251 single base substitution G A upstream_gene_variant MELA-AU 4 165950261 165950261 single base substitution C T upstream_gene_variant MELA-AU 4 165950594 165950594 single base substitution G A upstream_gene_variant MELA-AU 4 165950610 165950610 single base substitution G A upstream_gene_variant MELA-AU 4 165950658 165950658 single base substitution G A upstream_gene_variant MELA-AU 4 165950740 165950740 single base substitution G A upstream_gene_variant MELA-AU 4 165950793 165950793 single base substitution C T upstream_gene_variant MELA-AU 4 165950813 165950813 single base substitution C T upstream_gene_variant MELA-AU 4 165950983 165950983 single base substitution C T upstream_gene_variant MELA-AU 4 165951302 165951302 single base substitution C T upstream_gene_variant MELA-AU 4 165951493 165951493 single base substitution G A upstream_gene_variant MELA-AU 4 165951584 165951584 single base substitution C T upstream_gene_variant MELA-AU 4 165951667 165951667 single base substitution C T upstream_gene_variant MELA-AU 4 165952123 165952123 single base substitution G A upstream_gene_variant MELA-AU 4 165952159 165952159 single base substitution G A upstream_gene_variant MELA-AU 4 165952209 165952209 single base substitution A G upstream_gene_variant MELA-AU 4 165952395 165952395 single base substitution C T upstream_gene_variant MELA-AU 4 165952397 165952397 single base substitution G A upstream_gene_variant MELA-AU 4 165952429 165952429 single base substitution C T upstream_gene_variant MELA-AU 4 165952608 165952609 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 4 165952649 165952649 single base substitution G C upstream_gene_variant MELA-AU 4 165952778 165952778 single base substitution G A upstream_gene_variant MELA-AU 4 165952859 165952859 single base substitution C T upstream_gene_variant MELA-AU 4 165952873 165952873 single base substitution T A upstream_gene_variant MELA-AU 4 165952953 165952953 single base substitution G A upstream_gene_variant MELA-AU 4 165953053 165953053 single base substitution C T upstream_gene_variant MELA-AU 4 165953098 165953098 single base substitution C T upstream_gene_variant MELA-AU 4 165953158 165953158 single base substitution G A 5_prime_UTR_variant MELA-AU 4 165953250 165953250 single base substitution G A 5_prime_UTR_variant MELA-AU 4 165953285 165953285 single base substitution G A intron_variant MELA-AU 4 165953289 165953289 single base substitution G A intron_variant MELA-AU 4 165953360 165953360 single base substitution C T intron_variant MELA-AU 4 165953469 165953469 single base substitution C T intron_variant MELA-AU 4 165953643 165953643 single base substitution C T intron_variant MELA-AU 4 165953713 165953713 single base substitution C T intron_variant MELA-AU 4 165953875 165953875 single base substitution C T intron_variant MELA-AU 4 165953880 165953880 single base substitution C T intron_variant MELA-AU 4 165954091 165954091 single base substitution G A intron_variant MELA-AU 4 165954100 165954100 single base substitution G A intron_variant MELA-AU 4 165954197 165954197 single base substitution C T intron_variant MELA-AU 4 165954360 165954360 single base substitution G A intron_variant MELA-AU 4 165954380 165954380 single base substitution C T intron_variant MELA-AU 4 165954417 165954417 single base substitution G A intron_variant MELA-AU 4 165954433 165954433 single base substitution G A intron_variant MELA-AU 4 165954627 165954627 single base substitution G A intron_variant MELA-AU 4 165954779 165954779 single base substitution G A intron_variant MELA-AU 4 165954860 165954860 single base substitution G A intron_variant MELA-AU 4 165955235 165955235 single base substitution G T intron_variant MELA-AU 4 165955343 165955343 single base substitution C T intron_variant MELA-AU 4 165955496 165955496 single base substitution G A intron_variant MELA-AU 4 165955496 165955496 single base substitution G A upstream_gene_variant MELA-AU 4 165955525 165955525 single base substitution C T intron_variant MELA-AU 4 165955525 165955525 single base substitution C T upstream_gene_variant MELA-AU 4 165955606 165955606 single base substitution G A intron_variant MELA-AU 4 165955606 165955606 single base substitution G A upstream_gene_variant MELA-AU 4 165955635 165955635 single base substitution C T intron_variant MELA-AU 4 165955635 165955635 single base substitution C T upstream_gene_variant MELA-AU 4 165955657 165955657 single base substitution C T intron_variant MELA-AU 4 165955657 165955657 single base substitution C T upstream_gene_variant MELA-AU 4 165955714 165955714 single base substitution C T intron_variant MELA-AU 4 165955714 165955714 single base substitution C T upstream_gene_variant MELA-AU 4 165956110 165956110 single base substitution G A intron_variant MELA-AU 4 165956110 165956110 single base substitution G A upstream_gene_variant MELA-AU 4 165956370 165956370 single base substitution C T intron_variant MELA-AU 4 165956370 165956370 single base substitution C T upstream_gene_variant MELA-AU 4 165956401 165956401 single base substitution G A intron_variant MELA-AU 4 165956401 165956401 single base substitution G A upstream_gene_variant MELA-AU 4 165956613 165956613 single base substitution C T intron_variant MELA-AU 4 165956613 165956613 single base substitution C T upstream_gene_variant MELA-AU 4 165956673 165956673 single base substitution G A intron_variant MELA-AU 4 165956673 165956673 single base substitution G A upstream_gene_variant MELA-AU 4 165956741 165956741 single base substitution G A intron_variant MELA-AU 4 165956741 165956741 single base substitution G A upstream_gene_variant MELA-AU 4 165956965 165956965 single base substitution C T intron_variant MELA-AU 4 165956965 165956965 single base substitution C T upstream_gene_variant MELA-AU 4 165956984 165956984 single base substitution C T intron_variant MELA-AU 4 165956984 165956984 single base substitution C T upstream_gene_variant MELA-AU 4 165957536 165957536 single base substitution G A intron_variant MELA-AU 4 165957536 165957536 single base substitution G A upstream_gene_variant MELA-AU 4 165957599 165957599 single base substitution C T intron_variant MELA-AU 4 165957599 165957599 single base substitution C T upstream_gene_variant MELA-AU 4 165957661 165957661 single base substitution G A intron_variant MELA-AU 4 165957661 165957661 single base substitution G A upstream_gene_variant MELA-AU 4 165957723 165957723 single base substitution A T intron_variant MELA-AU 4 165957723 165957723 single base substitution A T upstream_gene_variant MELA-AU 4 165957856 165957856 single base substitution A G intron_variant MELA-AU 4 165957856 165957856 single base substitution A G upstream_gene_variant MELA-AU 4 165957943 165957943 single base substitution G A intron_variant MELA-AU 4 165957943 165957943 single base substitution G A upstream_gene_variant MELA-AU 4 165957959 165957959 single base substitution G A intron_variant MELA-AU 4 165957959 165957959 single base substitution G A upstream_gene_variant MELA-AU 4 165957981 165957981 single base substitution C T intron_variant MELA-AU 4 165957981 165957981 single base substitution C T upstream_gene_variant MELA-AU 4 165958030 165958030 single base substitution T C intron_variant MELA-AU 4 165958030 165958030 single base substitution T C upstream_gene_variant MELA-AU 4 165958186 165958186 single base substitution C T intron_variant MELA-AU 4 165958186 165958186 single base substitution C T upstream_gene_variant MELA-AU 4 165958357 165958357 single base substitution G A intron_variant MELA-AU 4 165958357 165958357 single base substitution G A upstream_gene_variant MELA-AU 4 165958539 165958539 single base substitution G A intron_variant MELA-AU 4 165958539 165958539 single base substitution G A upstream_gene_variant MELA-AU 4 165958556 165958556 single base substitution A G intron_variant MELA-AU 4 165958556 165958556 single base substitution A G upstream_gene_variant MELA-AU 4 165958598 165958598 single base substitution C T intron_variant MELA-AU 4 165958598 165958598 single base substitution C T upstream_gene_variant MELA-AU 4 165958626 165958626 single base substitution C T intron_variant MELA-AU 4 165958626 165958626 single base substitution C T upstream_gene_variant MELA-AU 4 165958813 165958813 single base substitution G A intron_variant MELA-AU 4 165958813 165958813 single base substitution G A upstream_gene_variant MELA-AU 4 165959011 165959011 single base substitution C T intron_variant MELA-AU 4 165959011 165959011 single base substitution C T upstream_gene_variant MELA-AU 4 165959140 165959140 single base substitution G A intron_variant MELA-AU 4 165959140 165959140 single base substitution G A upstream_gene_variant MELA-AU 4 165959281 165959281 single base substitution G A intron_variant MELA-AU 4 165959281 165959281 single base substitution G A upstream_gene_variant MELA-AU 4 165959281 165959282 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 4 165959281 165959282 multiple base substitution (>=2bp and <=200bp) GA AT upstream_gene_variant MELA-AU 4 165959359 165959359 single base substitution T C intron_variant MELA-AU 4 165959359 165959359 single base substitution T C upstream_gene_variant MELA-AU 4 165959363 165959363 single base substitution C G intron_variant MELA-AU 4 165959363 165959363 single base substitution C G upstream_gene_variant MELA-AU 4 165959494 165959494 single base substitution C T intron_variant MELA-AU 4 165959494 165959494 single base substitution C T upstream_gene_variant MELA-AU 4 165959825 165959825 single base substitution C T intron_variant MELA-AU 4 165959825 165959825 single base substitution C T upstream_gene_variant MELA-AU 4 165959918 165959918 single base substitution A C intron_variant MELA-AU 4 165959918 165959918 single base substitution A C upstream_gene_variant MELA-AU 4 165960481 165960481 single base substitution A G intron_variant MELA-AU 4 165960554 165960554 single base substitution C T intron_variant MELA-AU 4 165960555 165960555 single base substitution C T intron_variant MELA-AU 4 165960571 165960571 single base substitution T C intron_variant MELA-AU 4 165960643 165960643 single base substitution C T 5_prime_UTR_variant MELA-AU 4 165960643 165960643 single base substitution C T intron_variant MELA-AU 4 165960668 165960668 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 4 165960668 165960668 single base substitution C T intron_variant MELA-AU 4 165960698 165960698 single base substitution C T 5_prime_UTR_variant MELA-AU 4 165960698 165960698 single base substitution C T intron_variant MELA-AU 4 165961142 165961142 single base substitution C T intron_variant MELA-AU 4 165961144 165961144 single base substitution C T intron_variant MELA-AU 4 165961479 165961479 single base substitution G A synonymous_variant R85R 255G>A MELA-AU 4 165961516 165961516 single base substitution G A downstream_gene_variant MELA-AU 4 165961516 165961516 single base substitution G A missense_variant E98K 292G>A MELA-AU 4 165961679 165961679 single base substitution G A downstream_gene_variant MELA-AU 4 165961679 165961679 single base substitution G A missense_variant R152K 455G>A MELA-AU 4 165961849 165961849 single base substitution G A downstream_gene_variant MELA-AU 4 165961849 165961849 single base substitution G A missense_variant E209K 625G>A MELA-AU 4 165961907 165961907 single base substitution C T downstream_gene_variant MELA-AU 4 165961907 165961907 single base substitution C T missense_variant S228F 683C>T MELA-AU 4 165962051 165962051 single base substitution G A downstream_gene_variant MELA-AU 4 165962051 165962051 single base substitution G A missense_variant G276D 827G>A MELA-AU 4 165962195 165962195 single base substitution G A downstream_gene_variant MELA-AU 4 165962195 165962195 single base substitution G A missense_variant R324Q 971G>A MELA-AU 4 165962217 165962217 single base substitution G A downstream_gene_variant MELA-AU 4 165962217 165962217 single base substitution G A synonymous_variant R331R 993G>A MELA-AU 4 165962504 165962504 single base substitution C T downstream_gene_variant MELA-AU 4 165962504 165962504 single base substitution C T missense_variant S427F 1280C>T MELA-AU 4 165962548 165962548 single base substitution G A downstream_gene_variant MELA-AU 4 165962548 165962548 single base substitution G A missense_variant D442N 1324G>A MELA-AU 4 165962658 165962658 single base substitution C T 3_prime_UTR_variant MELA-AU 4 165962658 165962658 single base substitution C T downstream_gene_variant MELA-AU 4 165962743 165962743 single base substitution G A 3_prime_UTR_variant MELA-AU 4 165962743 165962743 single base substitution G A downstream_gene_variant MELA-AU 4 165962769 165962769 single base substitution T A 3_prime_UTR_variant MELA-AU 4 165962769 165962769 single base substitution T A downstream_gene_variant MELA-AU 4 165963160 165963160 single base substitution C T downstream_gene_variant MELA-AU 4 165963218 165963218 single base substitution C T downstream_gene_variant MELA-AU 4 165963232 165963232 single base substitution G A downstream_gene_variant MELA-AU 4 165963294 165963294 single base substitution C T downstream_gene_variant MELA-AU 4 165963496 165963496 single base substitution G A downstream_gene_variant MELA-AU 4 165963577 165963577 single base substitution C T downstream_gene_variant MELA-AU 4 165963604 165963604 single base substitution C T downstream_gene_variant MELA-AU 4 165963613 165963613 single base substitution G A downstream_gene_variant MELA-AU 4 165963624 165963625 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 4 165963655 165963655 single base substitution G A downstream_gene_variant MELA-AU 4 165963966 165963966 single base substitution G A downstream_gene_variant MELA-AU 4 165964191 165964191 single base substitution C T downstream_gene_variant MELA-AU 4 165964318 165964318 single base substitution C T downstream_gene_variant MELA-AU 4 165964417 165964417 insertion of <=200bp - GCCTTTG downstream_gene_variant MELA-AU 4 165964435 165964435 single base substitution C T downstream_gene_variant MELA-AU 4 165964560 165964560 single base substitution C T downstream_gene_variant MELA-AU 4 165964588 165964588 single base substitution C T downstream_gene_variant MELA-AU 4 165964708 165964708 single base substitution C T downstream_gene_variant MELA-AU 4 165964844 165964844 single base substitution G A downstream_gene_variant MELA-AU 4 165964852 165964852 single base substitution C T downstream_gene_variant MELA-AU 4 165964862 165964862 single base substitution G A downstream_gene_variant MELA-AU 4 165965143 165965143 single base substitution G A downstream_gene_variant MELA-AU 4 165965194 165965194 single base substitution C T downstream_gene_variant MELA-AU 4 165965213 165965214 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 165965467 165965467 single base substitution G A downstream_gene_variant MELA-AU 4 165965489 165965489 single base substitution G A downstream_gene_variant MELA-AU 4 165965547 165965547 single base substitution C T downstream_gene_variant MELA-AU 4 165965596 165965596 single base substitution G A downstream_gene_variant MELA-AU 4 165965677 165965677 single base substitution A T downstream_gene_variant MELA-AU 4 165965734 165965734 single base substitution G A downstream_gene_variant MELA-AU 4 165965770 165965770 single base substitution G A downstream_gene_variant MELA-AU 4 165965911 165965911 single base substitution G A downstream_gene_variant MELA-AU 4 165965932 165965932 single base substitution C T downstream_gene_variant MELA-AU 4 165965947 165965947 single base substitution C T downstream_gene_variant MELA-AU 4 165965963 165965963 single base substitution G A downstream_gene_variant MELA-AU 4 165965965 165965965 single base substitution G A downstream_gene_variant MELA-AU 4 165966073 165966073 single base substitution A C downstream_gene_variant MELA-AU 4 165966094 165966094 single base substitution G A downstream_gene_variant MELA-AU 4 165966133 165966133 single base substitution C T downstream_gene_variant MELA-AU 4 165966372 165966372 single base substitution G A downstream_gene_variant MELA-AU 4 165966459 165966459 single base substitution G A downstream_gene_variant MELA-AU 4 165966734 165966734 single base substitution G A downstream_gene_variant MELA-AU 4 165966738 165966738 single base substitution G A downstream_gene_variant MELA-AU 4 165966798 165966798 single base substitution G A downstream_gene_variant MELA-AU 4 165966877 165966877 single base substitution G A downstream_gene_variant MELA-AU 4 165966930 165966930 single base substitution C T downstream_gene_variant MELA-AU 4 165967029 165967029 single base substitution C T downstream_gene_variant MELA-AU 4 165967184 165967184 single base substitution A G downstream_gene_variant MELA-AU 4 165967219 165967219 single base substitution C T downstream_gene_variant MELA-AU 4 165967263 165967263 single base substitution A T downstream_gene_variant MELA-AU 4 165967553 165967553 single base substitution A G downstream_gene_variant MELA-AU 4 165967591 165967591 single base substitution G A downstream_gene_variant MELA-AU 4 165967662 165967662 single base substitution C T downstream_gene_variant MELA-AU 4 165967681 165967681 single base substitution G A downstream_gene_variant MELA-AU 4 165967774 165967774 single base substitution C T downstream_gene_variant MELA-AU 4 165967814 165967814 single base substitution C T downstream_gene_variant MELA-AU 4 165967853 165967853 single base substitution C T downstream_gene_variant OV-AU 4 165953423 165953423 single base substitution C G intron_variant OV-AU 4 165961389 165961389 single base substitution C G synonymous_variant V55V 165C>G OV-AU 4 165962871 165962871 single base substitution G A 3_prime_UTR_variant OV-AU 4 165962871 165962871 single base substitution G A downstream_gene_variant OV-AU 4 165966364 165966364 single base substitution G T downstream_gene_variant OV-AU 4 165966454 165966454 single base substitution A T downstream_gene_variant PACA-AU 4 165948583 165948583 single base substitution G A upstream_gene_variant PACA-AU 4 165952836 165952836 single base substitution G A upstream_gene_variant PACA-AU 4 165953158 165953158 single base substitution G A 5_prime_UTR_variant PACA-AU 4 165953201 165953201 single base substitution G T 5_prime_UTR_variant PACA-AU 4 165953423 165953423 single base substitution C T intron_variant PACA-AU 4 165956050 165956050 single base substitution G A intron_variant PACA-AU 4 165956050 165956050 single base substitution G A upstream_gene_variant PACA-AU 4 165956709 165956709 single base substitution A T intron_variant PACA-AU 4 165956709 165956709 single base substitution A T upstream_gene_variant PACA-AU 4 165959132 165959132 single base substitution G T intron_variant PACA-AU 4 165959132 165959132 single base substitution G T upstream_gene_variant PACA-AU 4 165961216 165961216 single base substitution C T intron_variant PACA-AU 4 165961759 165961759 single base substitution A T downstream_gene_variant PACA-AU 4 165961759 165961759 single base substitution A T stop_gained K179* 535A>T PACA-AU 4 165964035 165964041 deletion of <=200bp AGGGAAA - downstream_gene_variant PACA-AU 4 165965303 165965303 single base substitution T A downstream_gene_variant PACA-AU 4 165966381 165966381 single base substitution G T downstream_gene_variant PACA-AU 4 165966499 165966499 single base substitution C T downstream_gene_variant PACA-AU 4 165966843 165966843 single base substitution T A downstream_gene_variant PACA-CA 4 165948655 165948655 insertion of <=200bp - A upstream_gene_variant PACA-CA 4 165948881 165948881 single base substitution T C upstream_gene_variant PACA-CA 4 165953171 165953171 single base substitution C A 5_prime_UTR_variant PACA-CA 4 165953470 165953470 single base substitution G A intron_variant PACA-CA 4 165954104 165954104 single base substitution C T intron_variant PACA-CA 4 165955450 165955450 single base substitution C T intron_variant PACA-CA 4 165955450 165955450 single base substitution C T upstream_gene_variant PACA-CA 4 165955699 165955699 single base substitution G A intron_variant PACA-CA 4 165955699 165955699 single base substitution G A upstream_gene_variant PACA-CA 4 165956572 165956572 single base substitution G T intron_variant PACA-CA 4 165956572 165956572 single base substitution G T upstream_gene_variant PACA-CA 4 165958356 165958356 single base substitution C T intron_variant PACA-CA 4 165958356 165958356 single base substitution C T upstream_gene_variant PACA-CA 4 165959285 165959286 deletion of <=200bp AG - intron_variant PACA-CA 4 165959285 165959286 deletion of <=200bp AG - upstream_gene_variant PACA-CA 4 165960559 165960559 single base substitution A G intron_variant PACA-CA 4 165961394 165961394 single base substitution G A missense_variant R57H 170G>A PACA-CA 4 165961914 165961914 single base substitution A T downstream_gene_variant PACA-CA 4 165961914 165961914 single base substitution A T missense_variant L230F 690A>T PACA-CA 4 165962211 165962211 single base substitution C A downstream_gene_variant PACA-CA 4 165962211 165962211 single base substitution C A missense_variant D329E 987C>A PACA-CA 4 165962290 165962290 single base substitution G T downstream_gene_variant PACA-CA 4 165962290 165962290 single base substitution G T missense_variant V356L 1066G>T PACA-CA 4 165963819 165963819 single base substitution C T downstream_gene_variant PACA-CA 4 165964428 165964428 single base substitution G C downstream_gene_variant PACA-CA 4 165967217 165967217 single base substitution C T downstream_gene_variant PACA-CA 4 165967855 165967855 single base substitution G A downstream_gene_variant PAEN-IT 4 165955238 165955238 single base substitution G T intron_variant PBCA-DE 4 165960584 165960584 single base substitution T A intron_variant PBCA-DE 4 165962902 165962902 deletion of <=200bp T - downstream_gene_variant PRAD-CA 4 165948254 165948254 single base substitution A C upstream_gene_variant PRAD-CA 4 165952236 165952236 single base substitution G A upstream_gene_variant PRAD-CA 4 165965927 165965927 single base substitution G A downstream_gene_variant PRAD-CA 4 165966267 165966267 single base substitution T A downstream_gene_variant PRAD-UK 4 165949429 165949429 single base substitution C G upstream_gene_variant PRAD-UK 4 165953714 165953714 single base substitution G A intron_variant PRAD-UK 4 165953881 165953881 single base substitution G A intron_variant PRAD-UK 4 165953981 165953981 single base substitution G A intron_variant PRAD-UK 4 165956114 165956114 single base substitution T G intron_variant PRAD-UK 4 165956114 165956114 single base substitution T G upstream_gene_variant PRAD-UK 4 165963153 165963153 insertion of <=200bp - T downstream_gene_variant PRAD-UK 4 165963160 165963160 insertion of <=200bp - T downstream_gene_variant PRAD-UK 4 165965418 165965418 single base substitution G A downstream_gene_variant PRAD-US 4 165962457 165962457 single base substitution A G downstream_gene_variant PRAD-US 4 165962457 165962457 single base substitution A G synonymous_variant K411K 1233A>G READ-US 4 165961648 165961648 single base substitution G T downstream_gene_variant READ-US 4 165961648 165961648 single base substitution G T stop_gained E142* 424G>T RECA-EU 4 165948212 165948212 single base substitution C A upstream_gene_variant RECA-EU 4 165948398 165948398 single base substitution C T upstream_gene_variant RECA-EU 4 165957825 165957825 single base substitution G C intron_variant RECA-EU 4 165957825 165957825 single base substitution G C upstream_gene_variant RECA-EU 4 165959276 165959276 single base substitution C A intron_variant RECA-EU 4 165959276 165959276 single base substitution C A upstream_gene_variant SKCA-BR 4 165948342 165948342 single base substitution G A upstream_gene_variant SKCA-BR 4 165948433 165948433 single base substitution G A upstream_gene_variant SKCA-BR 4 165949406 165949426 deletion of <=200bp CTGCCTCCTCAAGATTACTCT - upstream_gene_variant SKCA-BR 4 165949527 165949527 single base substitution C T upstream_gene_variant SKCA-BR 4 165949637 165949637 single base substitution C T upstream_gene_variant SKCA-BR 4 165949740 165949740 single base substitution G A upstream_gene_variant SKCA-BR 4 165950664 165950664 single base substitution T G upstream_gene_variant SKCA-BR 4 165952135 165952135 single base substitution G A upstream_gene_variant SKCA-BR 4 165952350 165952362 deletion of <=200bp GAGACTCCGTCTC - upstream_gene_variant SKCA-BR 4 165952711 165952711 single base substitution C T upstream_gene_variant SKCA-BR 4 165952870 165952870 single base substitution G A upstream_gene_variant SKCA-BR 4 165954504 165954504 single base substitution G A intron_variant SKCA-BR 4 165954651 165954651 single base substitution G A intron_variant SKCA-BR 4 165955235 165955235 single base substitution G A intron_variant SKCA-BR 4 165956360 165956360 single base substitution G A intron_variant SKCA-BR 4 165956360 165956360 single base substitution G A upstream_gene_variant SKCA-BR 4 165956498 165956498 single base substitution G A intron_variant SKCA-BR 4 165956498 165956498 single base substitution G A upstream_gene_variant SKCA-BR 4 165958703 165958703 single base substitution T A intron_variant SKCA-BR 4 165958703 165958703 single base substitution T A upstream_gene_variant SKCA-BR 4 165959281 165959281 single base substitution G A intron_variant SKCA-BR 4 165959281 165959281 single base substitution G A upstream_gene_variant SKCA-BR 4 165960956 165960957 deletion of <=200bp CA - intron_variant SKCA-BR 4 165961516 165961516 single base substitution G A downstream_gene_variant SKCA-BR 4 165961516 165961516 single base substitution G A missense_variant E98K 292G>A SKCA-BR 4 165961673 165961673 single base substitution C T downstream_gene_variant SKCA-BR 4 165961673 165961673 single base substitution C T missense_variant P150L 449C>T SKCA-BR 4 165963855 165963855 single base substitution C T downstream_gene_variant SKCA-BR 4 165964424 165964424 single base substitution A C downstream_gene_variant SKCA-BR 4 165965438 165965438 single base substitution G A downstream_gene_variant SKCA-BR 4 165965808 165965808 single base substitution C T downstream_gene_variant SKCA-BR 4 165966350 165966350 single base substitution C A downstream_gene_variant SKCA-BR 4 165966634 165966634 single base substitution G A downstream_gene_variant SKCA-BR 4 165967107 165967107 single base substitution A G downstream_gene_variant SKCA-BR 4 165967266 165967266 single base substitution G A downstream_gene_variant SKCA-BR 4 165967472 165967472 insertion of <=200bp - CA downstream_gene_variant SKCM-US 4 165961274 165961274 single base substitution C T missense_variant P17L 50C>T SKCM-US 4 165961311 165961311 single base substitution C T synonymous_variant I29I 87C>T SKCM-US 4 165961360 165961360 single base substitution G A missense_variant D46N 136G>A SKCM-US 4 165961516 165961516 single base substitution G A downstream_gene_variant SKCM-US 4 165961516 165961516 single base substitution G A missense_variant E98K 292G>A SKCM-US 4 165961536 165961536 single base substitution G A downstream_gene_variant SKCM-US 4 165961536 165961536 single base substitution G A synonymous_variant L104L 312G>A SKCM-US 4 165961679 165961679 single base substitution G A downstream_gene_variant SKCM-US 4 165961679 165961679 single base substitution G A missense_variant R152K 455G>A SKCM-US 4 165961962 165961962 single base substitution G A downstream_gene_variant SKCM-US 4 165961962 165961962 single base substitution G A synonymous_variant L246L 738G>A SKCM-US 4 165962087 165962087 single base substitution G A downstream_gene_variant SKCM-US 4 165962087 165962087 single base substitution G A missense_variant R288K 863G>A SKCM-US 4 165962177 165962177 single base substitution G A downstream_gene_variant SKCM-US 4 165962177 165962177 single base substitution G A missense_variant R318Q 953G>A SKCM-US 4 165962195 165962195 single base substitution G A downstream_gene_variant SKCM-US 4 165962195 165962195 single base substitution G A missense_variant R324Q 971G>A SKCM-US 4 165962219 165962219 single base substitution G A downstream_gene_variant SKCM-US 4 165962219 165962219 single base substitution G A missense_variant R332K 995G>A SKCM-US 4 165962255 165962255 single base substitution G A downstream_gene_variant SKCM-US 4 165962255 165962255 single base substitution G A missense_variant R344K 1031G>A SKCM-US 4 165962281 165962281 single base substitution G A downstream_gene_variant SKCM-US 4 165962281 165962281 single base substitution G A missense_variant E353K 1057G>A SKCM-US 4 165962309 165962309 single base substitution G A downstream_gene_variant SKCM-US 4 165962309 165962309 single base substitution G A stop_gained W362* 1085G>A SKCM-US 4 165962409 165962409 single base substitution T G downstream_gene_variant SKCM-US 4 165962409 165962409 single base substitution T G synonymous_variant G395G 1185T>G SKCM-US 4 165962425 165962425 single base substitution C T downstream_gene_variant SKCM-US 4 165962425 165962425 single base substitution C T missense_variant P401S 1201C>T SKCM-US 4 165962504 165962504 single base substitution C T downstream_gene_variant SKCM-US 4 165962504 165962504 single base substitution C T missense_variant S427F 1280C>T STAD-US 4 165961252 165961252 single base substitution C A missense_variant L10I 28C>A STAD-US 4 165961350 165961350 single base substitution A G synonymous_variant V42V 126A>G STAD-US 4 165961428 165961428 deletion of <=200bp C - frameshift_variant N68 STAD-US 4 165961522 165961522 single base substitution C T downstream_gene_variant STAD-US 4 165961522 165961522 single base substitution C T missense_variant H100Y 298C>T STAD-US 4 165962283 165962283 single base substitution A C downstream_gene_variant STAD-US 4 165962283 165962283 single base substitution A C missense_variant E353D 1059A>C STAD-US 4 165962340 165962340 single base substitution T A downstream_gene_variant STAD-US 4 165962340 165962340 single base substitution T A synonymous_variant L372L 1116T>A STAD-US 4 165962417 165962417 single base substitution C T downstream_gene_variant STAD-US 4 165962417 165962417 single base substitution C T missense_variant A398V 1193C>T STAD-US 4 165962586 165962586 single base substitution T C downstream_gene_variant STAD-US 4 165962586 165962586 single base substitution T C synonymous_variant T454T 1362T>C UCEC-US 4 165961269 165961269 single base substitution C T synonymous_variant S15S 45C>T UCEC-US 4 165961438 165961438 single base substitution C T missense_variant R72C 214C>T UCEC-US 4 165961440 165961440 single base substitution T A synonymous_variant R72R 216T>A UCEC-US 4 165961487 165961487 single base substitution G T missense_variant R88I 263G>T UCEC-US 4 165961530 165961530 single base substitution G A downstream_gene_variant UCEC-US 4 165961530 165961530 single base substitution G A synonymous_variant Q102Q 306G>A UCEC-US 4 165962176 165962176 single base substitution C T downstream_gene_variant UCEC-US 4 165962176 165962176 single base substitution C T stop_gained R318* 952C>T UCEC-US 4 165962177 165962177 single base substitution G A downstream_gene_variant UCEC-US 4 165962177 165962177 single base substitution G A missense_variant R318Q 953G>A UCEC-US 4 165962355 165962355 single base substitution T C downstream_gene_variant UCEC-US 4 165962355 165962355 single base substitution T C synonymous_variant D377D 1131T>C UCEC-US 4 165962616 165962616 single base substitution C A downstream_gene_variant UCEC-US 4 165962616 165962616 single base substitution C A stop_gained C464* 1392C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-FW-A3R5-06 COSM3917397 c.1201C>T p.P401S Substitution - Missense 4:165041273-165041273 + TCGA-CM-6164-01 COSM1428389 c.568A>G p.I190V Substitution - Missense 4:165040640-165040640 + PCSI_0311_Pa_P_526 COSM3781124 c.987C>A p.D329E Substitution - Missense 4:165041059-165041059 + TCGA-BS-A0TE-01 COSM1052916 c.1292T>C p.M431T Substitution - Missense 4:165041364-165041364 + SM-4AX84 COSM4411997 c.1217T>G p.L406R Substitution - Missense 4:165041289-165041289 + TCGA-KK-A59V-01 COSM4878100 c.1233A>G p.K411K Substitution - coding silent 4:165041305-165041305 + HOP-92 COSM1671416 c.316C>A p.L106I Substitution - Missense 4:165040388-165040388 + LS411 COSM3335443 c.356G>A p.C119Y Substitution - Missense 4:165040428-165040428 + TCGA-EE-A2MR-06 COSM173539 c.971G>A p.R324Q Substitution - Missense 4:165041043-165041043 + TCGA-A8-A099-01 COSM447579 c.365C>A p.S122Y Substitution - Missense 4:165040437-165040437 + P142 COSM1737030 c.1177A>G p.K393E Substitution - Missense 4:165041249-165041249 + LUAD-S01357 COSM387502 c.1112T>A p.L371H Substitution - Missense 4:165041184-165041184 + 8012854 COSM3392769 c.535A>T p.K179* Substitution - Nonsense 4:165040607-165040607 + CHC1604T COSM4787834 c.1258G>T p.D420Y Substitution - Missense 4:165041330-165041330 + CSCC-11-T COSM4486798 c.30C>T p.L10L Substitution - coding silent 4:165040102-165040102 + TCGA-EE-A29D-06 COSM3601672 c.1057G>A p.E353K Substitution - Missense 4:165041129-165041129 + TCGA-FW-A3R5-06 COSM3917398 c.1280C>T p.S427F Substitution - Missense 4:165041352-165041352 + TCGA-FS-A1ZF-06 COSM3601671 c.1031G>A p.R344K Substitution - Missense 4:165041103-165041103 + TCGA-CG-4305-01 COSM4123287 c.28C>A p.L10I Substitution - Missense 4:165040100-165040100 + S02397 COSM1052909 c.214C>T p.R72C Substitution - Missense 4:165040286-165040286 + CSCC-44-T COSM3601673 c.1085G>A p.W362* Substitution - Nonsense 4:165041157-165041157 + T3262 COSM4736195 c.1248T>C p.G416G Substitution - coding silent 4:165041320-165041320 + T3225 COSM4736194 c.962_963insA p.R324fs*6 Insertion - Frameshift 4:165041034-165041035 + HT115 COSM3335463 c.1323C>T p.N441N Substitution - coding silent 4:165041395-165041395 + LUAD-F00365 COSM340689 c.245A>T p.Q82L Substitution - Missense 4:165040317-165040317 + U251 COSM1671416 c.316C>A p.L106I Substitution - Missense 4:165040388-165040388 + TCGA-FW-A3R5-06 COSM173539 c.971G>A p.R324Q Substitution - Missense 4:165041043-165041043 + 587400 COSM1230380 c.1297G>A p.D433N Substitution - Missense 4:165041369-165041369 + LUAD-S01315 COSM345604 c.204C>T p.N68N Substitution - coding silent 4:165040276-165040276 + Pat_66_A COSM227739 c.953G>A p.R318Q Substitution - Missense 4:165041025-165041025 + RMS2030 COSM5880517 c.844C>A p.Q282K Substitution - Missense 4:165040916-165040916 + TCGA-EE-A2GH-06 COSM3917395 c.863G>A p.R288K Substitution - Missense 4:165040935-165040935 + TCGA-A6-6137-01 COSM1428388 c.311T>G p.L104R Substitution - Missense 4:165040383-165040383 + HCC2998 COSM1671417 c.466G>T p.E156* Substitution - Nonsense 4:165040538-165040538 + ESCC_31 COSM1230379 c.1168C>T p.R390* Substitution - Nonsense 4:165041240-165041240 + TCGA-BT-A2LB-01 COSM3775680 c.397A>G p.I133V Substitution - Missense 4:165040469-165040469 + TCGA-DM-A1D4-01 COSM1328616 c.1193C>T p.A398V Substitution - Missense 4:165041265-165041265 + TCGA-EE-A181-06 COSM3601670 c.738G>A p.L246L Substitution - coding silent 4:165040810-165040810 + CSCC-27-T COSM3601672 c.1057G>A p.E353K Substitution - Missense 4:165041129-165041129 + PD4985a COSM5797483 c.906C>G p.N302K Substitution - Missense 4:165040978-165040978 + PT13 COSM5895744 c.859G>A p.D287N Substitution - Missense 4:165040931-165040931 + COLO-829 COSM23471 c.812G>C p.R271T Substitution - Missense 4:165040884-165040884 + PT55 COSM4510574 c.841C>T p.P281S Substitution - Missense 4:165040913-165040913 + TCGA-D3-A1QA-06 COSM227739 c.953G>A p.R318Q Substitution - Missense 4:165041025-165041025 + TCGA-60-2698-01 COSM733190 c.1158G>A p.W386* Substitution - Nonsense 4:165041230-165041230 + TCGA-BR-4368-01 COSM4123289 c.298C>T p.H100Y Substitution - Missense 4:165040370-165040370 + Pat_16_A COSM5866002 c.1369G>A p.D457N Substitution - Missense 4:165041441-165041441 + LIM2099 COSM4641213 c.1124G>T p.W375L Substitution - Missense 4:165041196-165041196 + LUAD-CHTN-Z4716A COSM362317 c.84C>G p.T28T Substitution - coding silent 4:165040156-165040156 + TCGA-22-1012-01 COSM733193 c.387C>T p.Y129Y Substitution - coding silent 4:165040459-165040459 + TCGA-BH-A1ES-06 COSM3825493 c.1380T>C p.P460P Substitution - coding silent 4:165041452-165041452 + TCGA-GN-A269-01 COSM3917396 c.1185T>G p.G395G Substitution - coding silent 4:165041257-165041257 + CSCC-15-T COSM4510574 c.841C>T p.P281S Substitution - Missense 4:165040913-165040913 + S02351 COSM4123289 c.298C>T p.H100Y Substitution - Missense 4:165040370-165040370 + PDA_042 COSM5000271 c.1013C>A p.A338D Substitution - Missense 4:165041085-165041085 + S00936 COSM316165 c.1149C>T p.G383G Substitution - coding silent 4:165041221-165041221 + T2269 COSM1230379 c.1168C>T p.R390* Substitution - Nonsense 4:165041240-165041240 + TCGA-A5-A0GP-01 COSM1052914 c.952C>T p.R318* Substitution - Nonsense 4:165041024-165041024 + TCGA-BH-A2L8-01 COSM3825491 c.273G>A p.Q91Q Substitution - coding silent 4:165040345-165040345 + TCGA-GN-A262-06 COSM3601664 c.50C>T p.P17L Substitution - Missense 4:165040122-165040122 + PCSI_0218_Pa_P_526 COSM3781123 c.690A>T p.L230F Substitution - Missense 4:165040762-165040762 + Pat_16_B COSM5866002 c.1369G>A p.D457N Substitution - Missense 4:165041441-165041441 + TCGA-AP-A059-01 COSM227739 c.953G>A p.R318Q Substitution - Missense 4:165041025-165041025 + TCGA-AP-A051-01 COSM1052908 c.45C>T p.S15S Substitution - coding silent 4:165040117-165040117 + TCGA-BF-A1Q0-01 COSM3601668 c.312G>A p.L104L Substitution - coding silent 4:165040384-165040384 + TCGA-F4-6459-01 COSM1428390 c.657C>A p.N219K Substitution - Missense 4:165040729-165040729 + TCGA-BR-4184-01 COSM1328616 c.1193C>T p.A398V Substitution - Missense 4:165041265-165041265 + AOCS-094-1-1 COSM4135479 c.165C>G p.V55V Substitution - coding silent 4:165040237-165040237 + 8034291 COSM3392768 c.97C>T p.H33Y Substitution - Missense 4:165040169-165040169 + SNU-C4 COSM4653789 c.1301G>T p.R434M Substitution - Missense 4:165041373-165041373 + TCGA-B5-A0K2-01 COSM1052909 c.214C>T p.R72C Substitution - Missense 4:165040286-165040286 + B57-Tumor COSM1753624 c.333T>A p.D111E Substitution - Missense 4:165040405-165040405 + YULAN COSM1695207 c.1157G>A p.W386* Substitution - Nonsense 4:165041229-165041229 + ESCC_164 COSM5648337 c.627G>C p.E209D Substitution - Missense 4:165040699-165040699 + TCGA-A6-5661-01 COSM1428386 c.159T>A p.C53* Substitution - Nonsense 4:165040231-165040231 + S02291 COSM5687059 c.631A>T p.N211Y Substitution - Missense 4:165040703-165040703 + SA218 COSM212394 c.1216C>T p.L406F Substitution - Missense 4:165041288-165041288 + TCGA-FG-6688-01 COSM3974805 c.1045C>T p.R349* Substitution - Nonsense 4:165041117-165041117 + TCGA-EE-A2MS-06 COSM3601666 c.136G>A p.D46N Substitution - Missense 4:165040208-165040208 + TCGA-56-6546-01 COSM733191 c.908C>A p.T303K Substitution - Missense 4:165040980-165040980 + 35M COSM5582855 c.992G>A p.R331K Substitution - Missense 4:165041064-165041064 + S02065 COSM5672862 c.1257delG p.D420fs*12 Deletion - Frameshift 4:165041329-165041329 + 01-P034 COSM4584895 c.1362T>G p.T454T Substitution - coding silent 4:165041434-165041434 + MO_1410 COSM227739 c.953G>A p.R318Q Substitution - Missense 4:165041025-165041025 + CHC1602T COSM4789192 c.349A>T p.T117S Substitution - Missense 4:165040421-165040421 + TCGA-A5-A0GM-01 COSM1052913 c.835C>A p.L279I Substitution - Missense 4:165040907-165040907 + TCGA-AN-A0AR-01 COSM447578 c.255G>A p.R85R Substitution - coding silent 4:165040327-165040327 + HCT8 COSM4635118 c.28C>T p.L10F Substitution - Missense 4:165040100-165040100 + UM-SCC-2 COSM4599427 c.1346G>A p.W449* Substitution - Nonsense 4:165041418-165041418 + YULAN COSM1695205 c.722C>T p.S241F Substitution - Missense 4:165040794-165040794 + 40M COSM227739 c.953G>A p.R318Q Substitution - Missense 4:165041025-165041025 + CLN3 COSM5024599 c.958G>T p.E320* Substitution - Nonsense 4:165041030-165041030 + TCGA-37-4133-01 COSM733194 c.206C>T p.P69L Substitution - Missense 4:165040278-165040278 + CLL018 COSM1291863 c.169C>A p.R57S Substitution - Missense 4:165040241-165040241 + CHC1602T COSM4789192 c.349A>T p.T117S Substitution - Missense 4:165040421-165040421 + 11M COSM5577152 c.878T>G p.F293C Substitution - Missense 4:165040950-165040950 + T3152 COSM4736193 c.854G>C p.G285A Substitution - Missense 4:165040926-165040926 + C086 COSM5540824 c.796G>A p.E266K Substitution - Missense 4:165040868-165040868 + TCGA-EE-A29E-06 COSM3601665 c.87C>T p.I29I Substitution - coding silent 4:165040159-165040159 + SJHGG028_D COSM4969580 c.23T>A p.V8E Substitution - Missense 4:165040095-165040095 + Gp5D COSM3335442 c.123T>C p.S41S Substitution - coding silent 4:165040195-165040195 + S01366 COSM316166 c.1129G>C p.D377H Substitution - Missense 4:165041201-165041201 + CSCC-27-T COSM1230378 c.1375G>A p.E459K Substitution - Missense 4:165041447-165041447 + PD18024a COSM5777253 c.109C>A p.R37S Substitution - Missense 4:165040181-165040181 + TCGA-AM-5820-01 COSM3696520 c.764T>G p.M255R Substitution - Missense 4:165040836-165040836 + PT46 COSM5928637 c.652G>A p.E218K Substitution - Missense 4:165040724-165040724 + CML057T COSM5802932 c.1276C>A p.L426I Substitution - Missense 4:165041348-165041348 + LUAD-S00486 COSM343321 c.994A>T p.R332* Substitution - Nonsense 4:165041066-165041066 + ESO-866 COSM1230379 c.1168C>T p.R390* Substitution - Nonsense 4:165041240-165041240 + ESCC-D7 COSM586492 c.1342G>A p.V448I Substitution - Missense 4:165041414-165041414 + WSU-HN30 COSM4600940 c.1357T>C p.Y453H Substitution - Missense 4:165041429-165041429 + ZZUFHECRKL-G012T COSM5435371 c.67T>C p.L23L Substitution - coding silent 4:165040139-165040139 + 19M COSM5579766 c.1321delA p.N441fs*>31 Deletion - Frameshift 4:165041393-165041393 + TCGA-D1-A17Q-01 COSM1052911 c.263G>T p.R88I Substitution - Missense 4:165040335-165040335 + HCC018T COSM5820117 c.723T>A p.S241S Substitution - coding silent 4:165040795-165040795 + YUPAT COSM1695203 c.154C>T p.P52S Substitution - Missense 4:165040226-165040226 + TCGA-EE-A29E-06 COSM227739 c.953G>A p.R318Q Substitution - Missense 4:165041025-165041025 + TCGA-BR-8487-01 COSM4123288 c.126A>G p.V42V Substitution - coding silent 4:165040198-165040198 + CSCC-27-T COSM4547450 c.422G>A p.R141K Substitution - Missense 4:165040494-165040494 + RD COSM3335451 c.668T>C p.L223P Substitution - Missense 4:165040740-165040740 + YUWHIM COSM1695206 c.995G>A p.R332K Substitution - Missense 4:165041067-165041067 + ME037T COSM227739 c.953G>A p.R318Q Substitution - Missense 4:165041025-165041025 + B65 COSM1753623 c.263G>C p.R88T Substitution - Missense 4:165040335-165040335 + B65-Tumor COSM1753623 c.263G>C p.R88T Substitution - Missense 4:165040335-165040335 + SW480 COSM4655903 c.99C>T p.H33H Substitution - coding silent 4:165040171-165040171 + TCGA-AG-A002-01 COSM264195 c.1356C>A p.F452L Substitution - Missense 4:165041428-165041428 + TCGA-AA-3510-01 COSM1428393 c.1155C>A p.F385L Substitution - Missense 4:165041227-165041227 + TCGA-FG-7643-01 COSM3974806 c.1293G>A p.M431I Substitution - Missense 4:165041365-165041365 + S02382 COSM5697941 c.1296T>A p.N432K Substitution - Missense 4:165041368-165041368 + LUAD-RT-S01813 COSM383402 c.971G>T p.R324L Substitution - Missense 4:165041043-165041043 + TCGA-EE-A3AA-06 COSM3601669 c.455G>A p.R152K Substitution - Missense 4:165040527-165040527 + TCGA-AR-A24L-01 COSM1485819 c.467A>G p.E156G Substitution - Missense 4:165040539-165040539 + YUBER COSM1695202 c.145G>A p.D49N Substitution - Missense 4:165040217-165040217 + CHC1604T COSM4787834 c.1258G>T p.D420Y Substitution - Missense 4:165041330-165041330 + TCGA-GN-A26C-01 COSM1695206 c.995G>A p.R332K Substitution - Missense 4:165041067-165041067 + D28 COSM5546025 c.622G>A p.E208K Substitution - Missense 4:165040694-165040694 + 032T COSM1728462 c.1247G>T p.G416V Substitution - Missense 4:165041319-165041319 + YUQUEST COSM207642 c.1169G>A p.R390Q Substitution - Missense 4:165041241-165041241 + TCGA-AA-A010-01 COSM285956 c.192C>T p.S64S Substitution - coding silent 4:165040264-165040264 + TCGA-AA-A00N-01 COSM277808 c.1317T>G p.T439T Substitution - coding silent 4:165041389-165041389 + LUAD-5V8LT COSM402531 c.664G>A p.E222K Substitution - Missense 4:165040736-165040736 + CSCC-11-T COSM4516082 c.155_156CC>TT p.P52L Substitution - Missense 4:165040227-165040228 + LUAD-B00915 COSM332948 c.985G>T p.D329Y Substitution - Missense 4:165041057-165041057 + TCGA-EE-A29M-06 COSM3601667 c.292G>A p.E98K Substitution - Missense 4:165040364-165040364 + 2492730 COSM5730073 c.165C>T p.V55V Substitution - coding silent 4:165040237-165040237 + 01-P8014 COSM4584894 c.162T>C p.P54P Substitution - coding silent 4:165040234-165040234 + 1946219 COSM1578272 c.417T>C p.Y139Y Substitution - coding silent 4:165040489-165040489 + PCSI_0311_Pa_P_526 COSM3781125 c.1066G>T p.V356L Substitution - Missense 4:165041138-165041138 + TCGA-CG-4444-01 COSM4123290 c.1059A>C p.E353D Substitution - Missense 4:165041131-165041131 + BK0100 COSM4189119 c.386A>T p.Y129F Substitution - Missense 4:165040458-165040458 + TCGA-AX-A0J1-01 COSM1052917 c.1392C>A p.C464* Substitution - Nonsense 4:165041464-165041464 + TCGA-ER-A19H-06 COSM3601673 c.1085G>A p.W362* Substitution - Nonsense 4:165041157-165041157 + S02285 COSM5683777 c.1109G>T p.C370F Substitution - Missense 4:165041181-165041181 + YULLON COSM1695204 c.244C>T p.Q82* Substitution - Nonsense 4:165040316-165040316 + 223 COSM4425528 c.12G>A p.V4V Substitution - coding silent 4:165040084-165040084 + HCC2998 COSM1671417 c.466G>T p.E156* Substitution - Nonsense 4:165040538-165040538 + TCGA-BR-4191-01 COSM4123291 c.1116T>A p.L372L Substitution - coding silent 4:165041188-165041188 + CLL018 COSM1291864 c.186C>A p.Y62* Substitution - Nonsense 4:165040258-165040258 + PT37 COSM5918540 c.449C>T p.P150L Substitution - Missense 4:165040521-165040521 + TCGA-D1-A103-01 COSM1052912 c.306G>A p.Q102Q Substitution - coding silent 4:165040378-165040378 + TCGA-29-1695-01 COSM1328616 c.1193C>T p.A398V Substitution - Missense 4:165041265-165041265 + TCGA-A6-6653-01 COSM1428387 c.169C>T p.R57C Substitution - Missense 4:165040241-165040241 + TCGA-F5-6814-01 COSM3428311 c.424G>T p.E142* Substitution - Nonsense 4:165040496-165040496 + TCGA-UB-A7MA-01 COSM4910074 c.1335A>T p.T445T Substitution - coding silent 4:165041407-165041407 + S01366 COSM316166 c.1129G>C p.D377H Substitution - Missense 4:165041201-165041201 + LUAD-S00488 COSM404077 c.515T>G p.L172R Substitution - Missense 4:165040587-165040587 + TCGA-BS-A0UJ-01 COSM1052910 c.216T>A p.R72R Substitution - coding silent 4:165040288-165040288 + HN_62854 COSM129905 c.880C>G p.Q294E Substitution - Missense 4:165040952-165040952 + S02279 COSM5683777 c.1109G>T p.C370F Substitution - Missense 4:165041181-165041181 + TCGA-BS-A0UV-01 COSM1052915 c.1131T>C p.D377D Substitution - coding silent 4:165041203-165041203 + Gp2D COSM3335442 c.123T>C p.S41S Substitution - coding silent 4:165040195-165040195 + SC_9061 COSM5564855 c.573A>T p.R191S Substitution - Missense 4:165040645-165040645 + HCC2998 COSM3335459 c.1176G>T p.M392I Substitution - Missense 4:165041248-165041248 + 587224 COSM1230378 c.1375G>A p.E459K Substitution - Missense 4:165041447-165041447 + 8068539 COSM3392769 c.535A>T p.K179* Substitution - Nonsense 4:165040607-165040607 + TCGA-BR-8487-01 COSM4123292 c.1362T>C p.T454T Substitution - coding silent 4:165041434-165041434 + TCGA-GM-A2DI-01 COSM3825492 c.934G>C p.E312Q Substitution - Missense 4:165041006-165041006 + B57 COSM1753624 c.333T>A p.D111E Substitution - Missense 4:165040405-165040405 + CSCC-11-T COSM4523686 c.1228G>A p.V410I Substitution - Missense 4:165041300-165041300 + MN-1066 COSM1578869 c.1324G>A p.D442N Substitution - Missense 4:165041396-165041396 + 587284 COSM1230379 c.1168C>T p.R390* Substitution - Nonsense 4:165041240-165041240 + TCGA-UB-A7MA-01 COSM4910086 c.1332C>T p.F444F Substitution - coding silent 4:165041404-165041404 + T3658 COSM316165 c.1149C>T p.G383G Substitution - coding silent 4:165041221-165041221 + TCGA-A6-6781-01 COSM1428392 c.963delA p.K323fs*18 Deletion - Frameshift 4:165041035-165041035 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.368004 4q32.3 254615|dbSNP|BC100986|G/T|non-coding||187|Validated; 631116|dbSNP|BC100986|C/T|non-coding||178|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E353D c.1059A>C 4 165962283 STAD A G Missense p.E156G c.467A>G 4 165961691 BRCA A G Missense p.I133V c.397A>G 4 165961621 BLCA A G Synonymous p.K173K c.519A>G 4 165961743 LUAD A T Missense p.R314S c.942A>T 4 165962166 STAD C A Missense p.L10I c.28C>A 4 165961252 STAD C A Missense p.P306T c.916C>A 4 165962140 HNSC C A Missense p.R57S c.169C>A 4 165961393 CLL C A Missense p.S122Y c.365C>A 4 165961589 BRCA C A Missense p.T303K c.908C>A 4 165962132 LUSC C A Nonsense p.Y62* c.186C>A 4 165961410 CLL C A Synonymous p.L81L c.243C>A 4 165961467 LUAD C G Missense p.Q294E c.880C>G 4 165962104 HNSC C T Missense p.H100Y c.298C>T 4 165961522 STAD C T Missense p.L406F c.1216C>T 4 165962440 BRCA C T Missense p.P17L c.50C>T 4 165961274 CM C T Missense p.P52L c.155C>T 4 165961379 CM C T Missense p.P52S c.154C>T 4 165961378 CM C T Missense p.P69L c.206C>T 4 165961430 LUSC C T Missense p.R72C c.214C>T 4 165961438 UCEC C T Nonsense p.R318* c.952C>T 4 165962176 UCEC C T Nonsense p.R349* c.1045C>T 4 165962269 LGG C T Nonsense p.R390* c.1168C>T 4 165962392 ESCA C T Synonymous p.F385F c.1155C>T 4 165962379 CM C T Synonymous p.G383G c.1149C>T 4 165962373 SCLC C T Synonymous p.Y129Y c.387C>T 4 165961611 LUSC G A 3-UTRSNV . c.1413+106G>A 4 165962743 CM G A Missense p.D457N c.1369G>A 4 165962593 CM G A Missense p.D46N c.136G>A 4 165961360 CM G A Missense p.E159K c.475G>A 4 165961699 CM G A Missense p.E98K c.292G>A 4 165961516 CM G A Missense p.M431I c.1293G>A 4 165962517 LGG G A Missense p.R152K c.455G>A 4 165961679 CM G A Missense p.R288K c.863G>A 4 165962087 CM G A Missense p.R318Q c.953G>A 4 165962177 CM G A Missense p.R332K c.995G>A 4 165962219 CM G A Missense p.R344K c.1031G>A 4 165962255 CM G A Missense p.V448I c.1342G>A 4 165962566 LUAD G A Nonsense p.W362* c.1085G>A 4 165962309 CM G A Synonymous p.L246L c.738G>A 4 165961962 CM G A Synonymous p.R85R c.255G>A 4 165961479 BRCA G A Synonymous p.V161V c.483G>A 4 165961707 LUAD G C Missense p.D377H c.1129G>C 4 165962353 SCLC G T Missense p.C97F c.290G>T 4 165961514 LUAD G T Missense p.D442Y c.1324G>T 4 165962548 LUAD G T Missense p.E238D c.714G>T 4 165961938 LUAD T A Synonymous p.L372L c.1116T>A 4 165962340 STAD T G Synonymous p.G395G c.1185T>G 4 165962409 CM