Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 247614387 247614387 + Missense_Mutation SNP C C G TCGA-GU-AATP-01A-11D-A391-08 TCGA-GU-AATP-10A-01D-A394-08 g.chr1:247614387C>G c.898G>C c.(898-900)Gat>Cat p.D300H BLCA 1 247614709 247614709 + Silent SNP C C T TCGA-GV-A3QG-01A-11D-A21Z-08 TCGA-GV-A3QG-10A-01D-A21Z-08 g.chr1:247614709C>T c.576G>A c.(574-576)tcG>tcA p.S192S BLCA 1 247614801 247614801 + Missense_Mutation SNP C C A TCGA-UY-A9PD-01A-11D-A38G-08 TCGA-UY-A9PD-10A-01D-A38J-08 g.chr1:247614801C>A c.484G>T c.(484-486)Gtg>Ttg p.V162L BLCA 1 247614864 247614864 + Missense_Mutation SNP G G C TCGA-4Z-AA7M-01A-11D-A391-08 TCGA-4Z-AA7M-10A-01D-A394-08 g.chr1:247614864G>C c.421C>G c.(421-423)Cac>Gac p.H141D BRCA 1 247614687 247614687 + Missense_Mutation SNP C C T TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 g.chr1:247614687C>T c.598G>A c.(598-600)Gac>Aac p.D200N BRCA 1 247614794 247614794 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 g.chr1:247614794A>C c.491T>G c.(490-492)gTg>gGg p.V164G COAD 1 247614485 247614485 + Frame_Shift_Del DEL G G - TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr1:247614485delG c.800delC c.(799-801)cctfs p.P267fs COAD 1 247614486 247614486 + Missense_Mutation SNP G G A TCGA-AA-3681-01A-01W-0900-09 TCGA-AA-3681-10A-01W-0900-09 g.chr1:247614486G>A c.799C>T c.(799-801)Cct>Tct p.P267S COAD 1 247614508 247614508 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:247614508C>T c.777G>A c.(775-777)gcG>gcA p.A259A COAD 1 247614572 247614572 + Missense_Mutation SNP C C T TCGA-AA-3544-01A-01W-0831-10 TCGA-AA-3544-10A-01W-0831-10 g.chr1:247614572C>T c.713G>A c.(712-714)cGa>cAa p.R238Q COAD 1 247614765 247614765 + Missense_Mutation SNP C C T TCGA-AA-A01S-01A-21W-A096-10 TCGA-AA-A01S-11A-21W-A096-10 g.chr1:247614765C>T c.520G>A c.(520-522)Ggg>Agg p.G174R COAD 1 247614785 247614785 + Missense_Mutation SNP G G A TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chr1:247614785G>A c.500C>T c.(499-501)aCg>aTg p.T167M COAD 1 247614975 247614975 + Nonsense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:247614975G>A c.310C>T c.(310-312)Caa>Taa p.Q104* COAD 1 247615090 247615090 + Silent SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:247615090G>T c.195C>A c.(193-195)atC>atA p.I65I COAD 1 247615147 247615147 + Silent SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr1:247615147G>A c.138C>T c.(136-138)aaC>aaT p.N46N COAD 1 247615281 247615281 + Missense_Mutation SNP T T C TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr1:247615281T>C c.4A>G c.(4-6)Aaa>Gaa p.K2E COADREAD 1 247614485 247614485 + Frame_Shift_Del DEL G G - TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr1:247614485delG c.800delC c.(799-801)cctfs p.P267fs COADREAD 1 247614486 247614486 + Missense_Mutation SNP G G A TCGA-AA-3681-01A-01W-0900-09 TCGA-AA-3681-10A-01W-0900-09 g.chr1:247614486G>A c.799C>T c.(799-801)Cct>Tct p.P267S COADREAD 1 247614508 247614508 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:247614508C>T c.777G>A c.(775-777)gcG>gcA p.A259A COADREAD 1 247614572 247614572 + Missense_Mutation SNP C C T TCGA-AA-3544-01A-01W-0831-10 TCGA-AA-3544-10A-01W-0831-10 g.chr1:247614572C>T c.713G>A c.(712-714)cGa>cAa p.R238Q COADREAD 1 247614573 247614573 + Nonsense_Mutation SNP G G A TCGA-G5-6641-01A-11D-1826-10 TCGA-G5-6641-10A-01D-1826-10 g.chr1:247614573G>A c.712C>T c.(712-714)Cga>Tga p.R238* COADREAD 1 247614710 247614710 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:247614710G>A c.575C>T c.(574-576)tCg>tTg p.S192L COADREAD 1 247614762 247614762 + Silent SNP G G T TCGA-AG-3608-01A-01W-0833-10 TCGA-AG-3608-10A-01W-0833-10 g.chr1:247614762G>T c.523C>A c.(523-525)Cgg>Agg p.R175R COADREAD 1 247614765 247614765 + Missense_Mutation SNP C C T TCGA-AA-A01S-01A-21W-A096-10 TCGA-AA-A01S-11A-21W-A096-10 g.chr1:247614765C>T c.520G>A c.(520-522)Ggg>Agg p.G174R COADREAD 1 247614785 247614785 + Missense_Mutation SNP G G A TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chr1:247614785G>A c.500C>T c.(499-501)aCg>aTg p.T167M COADREAD 1 247614975 247614975 + Nonsense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:247614975G>A c.310C>T c.(310-312)Caa>Taa p.Q104* COADREAD 1 247615090 247615090 + Silent SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:247615090G>T c.195C>A c.(193-195)atC>atA p.I65I COADREAD 1 247615147 247615147 + Silent SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr1:247615147G>A c.138C>T c.(136-138)aaC>aaT p.N46N COADREAD 1 247615281 247615281 + Missense_Mutation SNP T T C TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr1:247615281T>C c.4A>G c.(4-6)Aaa>Gaa p.K2E GBM 1 247614696 247614696 + Missense_Mutation SNP C C T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 g.chr1:247614696C>T c.589G>A c.(589-591)Gct>Act p.A197T GBM 1 247614785 247614785 + Missense_Mutation SNP G G A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 g.chr1:247614785G>A c.500C>T c.(499-501)aCg>aTg p.T167M GBMLGG 1 247614479 247614479 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:247614479C>T c.806G>A c.(805-807)aGc>aAc p.S269N GBMLGG 1 247614696 247614696 + Missense_Mutation SNP C C T TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 g.chr1:247614696C>T c.589G>A c.(589-591)Gct>Act p.A197T GBMLGG 1 247614765 247614765 + Missense_Mutation SNP C C T TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 g.chr1:247614765C>T c.520G>A c.(520-522)Ggg>Agg p.G174R GBMLGG 1 247614785 247614785 + Missense_Mutation SNP G G A TCGA-06-0877-01A-01W-0424-08 TCGA-06-0877-10A-01W-0424-08 g.chr1:247614785G>A c.500C>T c.(499-501)aCg>aTg p.T167M HNSC 1 247614634 247614634 + Silent SNP G G A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 g.chr1:247614634G>A c.651C>T c.(649-651)ctC>ctT p.L217L HNSC 1 247614723 247614723 + Missense_Mutation SNP C C A TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr1:247614723C>A c.562G>T c.(562-564)Gtg>Ttg p.V188L HNSC 1 247615247 247615247 + Missense_Mutation SNP G G T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 g.chr1:247615247G>T c.38C>A c.(37-39)cCt>cAt p.P13H KICH 1 247615262 247615262 + Missense_Mutation SNP A A G TCGA-KL-8342-01A-11D-2310-10 TCGA-KL-8342-11A-01D-2310-10 g.chr1:247615262A>G c.23T>C c.(22-24)tTc>tCc p.F8S KIPAN 1 247614532 247614532 + Silent SNP G G A TCGA-BP-5200-01A-01D-1429-08 TCGA-BP-5200-11A-01D-1429-08 g.chr1:247614532G>A c.753C>T c.(751-753)atC>atT p.I251I KIPAN 1 247614975 247614975 + Missense_Mutation SNP G G T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 g.chr1:247614975G>T c.310C>A c.(310-312)Caa>Aaa p.Q104K KIPAN 1 247615262 247615262 + Missense_Mutation SNP A A G TCGA-KL-8342-01A-11D-2310-10 TCGA-KL-8342-11A-01D-2310-10 g.chr1:247615262A>G c.23T>C c.(22-24)tTc>tCc p.F8S KIRC 1 247614532 247614532 + Silent SNP G G A TCGA-BP-5200-01A-01D-1429-08 TCGA-BP-5200-11A-01D-1429-08 g.chr1:247614532G>A c.753C>T c.(751-753)atC>atT p.I251I KIRC 1 247614975 247614975 + Missense_Mutation SNP G G T TCGA-B4-5835-01A-11D-1669-08 TCGA-B4-5835-10A-01D-1669-08 g.chr1:247614975G>T c.310C>A c.(310-312)Caa>Aaa p.Q104K LGG 1 247614479 247614479 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:247614479C>T c.806G>A c.(805-807)aGc>aAc p.S269N LGG 1 247614765 247614765 + Missense_Mutation SNP C C T TCGA-P5-A5EW-01A-11D-A27K-08 TCGA-P5-A5EW-10A-01D-A27N-08 g.chr1:247614765C>T c.520G>A c.(520-522)Ggg>Agg p.G174R LIHC 1 247614391 247614391 + Silent SNP A A G TCGA-CC-A1HT-01A-11D-A12Z-10 TCGA-CC-A1HT-10A-01D-A12Z-10 g.chr1:247614391A>G c.894T>C c.(892-894)aaT>aaC p.N298N LIHC 1 247614647 247614647 + Missense_Mutation SNP A A T TCGA-DD-AAEG-01A-11D-A38X-10 TCGA-DD-AAEG-10A-01D-A38X-10 g.chr1:247614647A>T c.638T>A c.(637-639)gTg>gAg p.V213E LIHC 1 247614658 247614658 + Missense_Mutation SNP G G T TCGA-BC-A112-01A-11D-A12Z-10 TCGA-BC-A112-11A-11D-A12Z-10 g.chr1:247614658G>T c.627C>A c.(625-627)ttC>ttA p.F209L LIHC 1 247615038 247615038 + Missense_Mutation SNP G G C TCGA-DD-AAE3-01A-11D-A40R-10 TCGA-DD-AAE3-10A-01D-A40U-10 g.chr1:247615038G>C c.247C>G c.(247-249)Cct>Gct p.P83A LIHC 1 247615077 247615077 + Frame_Shift_Del DEL G G - TCGA-BC-A10T-01A-11D-A12Z-10 TCGA-BC-A10T-11A-11D-A12Z-10 g.chr1:247615077delG c.208delC c.(208-210)ctgfs p.L70fs LIHC 1 247615107 247615108 + Missense_Mutation DNP GG GG TT TCGA-DD-A115-01A-11D-A12Z-10 TCGA-DD-A115-10A-01D-A12Z-10 g.chr1:247615107_247615108GG>TT c.177_178CC>AA c.(175-180)ctCCac>ctAAac p.H60N LUAD 1 247614339 247614339 + Missense_Mutation SNP A A T TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr1:247614339A>T c.946T>A c.(946-948)Tgt>Agt p.C316S LUAD 1 247614347 247614347 + Missense_Mutation SNP C C A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 g.chr1:247614347C>A c.938G>T c.(937-939)tGg>tTg p.W313L LUAD 1 247614375 247614375 + Frame_Shift_Del DEL C C - TCGA-38-4628-01A-01D-1265-08 TCGA-38-4628-11A-01D-1265-08 g.chr1:247614375delC c.910delG c.(910-912)gctfs p.A304fs LUAD 1 247614463 247614463 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr1:247614463C>A c.822G>T c.(820-822)caG>caT p.Q274H LUAD 1 247614468 247614468 + Frame_Shift_Del DEL C C - TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 g.chr1:247614468delC c.817delG c.(817-819)gagfs p.E273fs LUAD 1 247614514 247614514 + Silent SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr1:247614514T>A c.771A>T c.(769-771)ctA>ctT p.L257L LUAD 1 247614520 247614520 + Missense_Mutation SNP G G T TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chr1:247614520G>T c.765C>A c.(763-765)ttC>ttA p.F255L LUAD 1 247614524 247614524 + Missense_Mutation SNP A A T TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chr1:247614524A>T c.761T>A c.(760-762)cTc>cAc p.L254H LUAD 1 247614592 247614592 + Missense_Mutation SNP C C A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 g.chr1:247614592C>A c.693G>T c.(691-693)agG>agT p.R231S LUAD 1 247614601 247614601 + Silent SNP T T A TCGA-55-8616-01A-11D-2393-08 TCGA-55-8616-10A-01D-2393-08 g.chr1:247614601T>A c.684A>T c.(682-684)gcA>gcT p.A228A LUAD 1 247614655 247614655 + Silent SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 g.chr1:247614655G>A c.630C>T c.(628-630)ttC>ttT p.F210F LUAD 1 247614656 247614656 + Missense_Mutation SNP A A C TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 g.chr1:247614656A>C c.629T>G c.(628-630)tTc>tGc p.F210C LUAD 1 247614710 247614710 + Missense_Mutation SNP G G C TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr1:247614710G>C c.575C>G c.(574-576)tCg>tGg p.S192W LUAD 1 247614726 247614726 + Missense_Mutation SNP C C G TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr1:247614726C>G c.559G>C c.(559-561)Gcc>Ccc p.A187P LUAD 1 247614730 247614730 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chr1:247614730C>A c.555G>T c.(553-555)gtG>gtT p.V185V LUAD 1 247614733 247614733 + Missense_Mutation SNP C C G TCGA-MP-A4TF-01A-11D-A25L-08 TCGA-MP-A4TF-10A-01D-A25L-08 g.chr1:247614733C>G c.552G>C c.(550-552)gaG>gaC p.E184D LUAD 1 247614745 247614745 + Missense_Mutation SNP G G C TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 g.chr1:247614745G>C c.540C>G c.(538-540)aaC>aaG p.N180K LUAD 1 247614761 247614761 + Missense_Mutation SNP C C T TCGA-86-7701-01A-11D-2167-08 TCGA-86-7701-10A-01D-2167-08 g.chr1:247614761C>T c.524G>A c.(523-525)cGg>cAg p.R175Q LUAD 1 247614852 247614852 + Missense_Mutation SNP A A C TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr1:247614852A>C c.433T>G c.(433-435)Tgt>Ggt p.C145G LUAD 1 247614894 247614894 + Missense_Mutation SNP A A T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 g.chr1:247614894A>T c.391T>A c.(391-393)Tgc>Agc p.C131S LUAD 1 247614915 247614915 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr1:247614915G>C c.370C>G c.(370-372)Ctg>Gtg p.L124V LUAD 1 247614961 247614961 + Missense_Mutation SNP G G T TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr1:247614961G>T c.324C>A c.(322-324)ttC>ttA p.F108L LUAD 1 247614966 247614966 + Missense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 g.chr1:247614966C>A c.319G>T c.(319-321)Gtc>Ttc p.V107F LUAD 1 247615009 247615009 + Silent SNP G G T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr1:247615009G>T c.276C>A c.(274-276)tcC>tcA p.S92S LUAD 1 247615073 247615073 + Missense_Mutation SNP G G T TCGA-17-Z049-01A-01W-0746-08 TCGA-17-Z049-11A-01W-0747-08 g.chr1:247615073G>T c.212C>A c.(211-213)tCc>tAc p.S71Y LUAD 1 247615096 247615096 + Missense_Mutation SNP C C A TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 g.chr1:247615096C>A c.189G>T c.(187-189)atG>atT p.M63I LUAD 1 247615100 247615100 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr1:247615100G>C c.185C>G c.(184-186)cCc>cGc p.P62R LUAD 1 247615142 247615142 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr1:247615142G>T c.143C>A c.(142-144)gCc>gAc p.A48D LUAD 1 247615143 247615143 + Missense_Mutation SNP C C T TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 g.chr1:247615143C>T c.142G>A c.(142-144)Gcc>Acc p.A48T LUSC 1 247614352 247614352 + Silent SNP C C T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 g.chr1:247614352C>T c.933G>A c.(931-933)agG>agA p.R311R LUSC 1 247614643 247614643 + Silent SNP G G C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 g.chr1:247614643G>C c.642C>G c.(640-642)ccC>ccG p.P214P LUSC 1 247614672 247614672 + Missense_Mutation SNP C C G TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 g.chr1:247614672C>G c.613G>C c.(613-615)Gtg>Ctg p.V205L LUSC 1 247614764 247614764 + Missense_Mutation SNP C C A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 g.chr1:247614764C>A c.521G>T c.(520-522)gGg>gTg p.G174V LUSC 1 247614885 247614885 + Silent SNP G G A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 g.chr1:247614885G>A c.400C>T c.(400-402)Ctg>Ttg p.L134L LUSC 1 247614912 247614912 + Missense_Mutation SNP C C G TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 g.chr1:247614912C>G c.373G>C c.(373-375)Gac>Cac p.D125H LUSC 1 247614915 247614915 + Missense_Mutation SNP G G T TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 g.chr1:247614915G>T c.370C>A c.(370-372)Ctg>Atg p.L124M LUSC 1 247614957 247614957 + Frame_Shift_Del DEL A A - TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 g.chr1:247614957delA c.328delT c.(328-330)tggfs p.W110fs LUSC 1 247615099 247615100 + Missense_Mutation DNP GG GG TT TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 g.chr1:247615099_247615100GG>TT c.185_186CC>AA c.(184-186)cCC>cAA p.P62Q LUSC 1 247615153 247615153 + Missense_Mutation SNP C C A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr1:247615153C>A c.132G>T c.(130-132)ttG>ttT p.L44F LUSC 1 247615256 247615256 + Missense_Mutation SNP C C A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 g.chr1:247615256C>A c.29G>T c.(28-30)gGg>gTg p.G10V LUSC 1 247615256 247615256 + Missense_Mutation SNP C C A TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr1:247615256C>A c.29G>T c.(28-30)gGg>gTg p.G10V OV 1 247614505 247614505 + Silent SNP A A T TCGA-61-1919-01A-01W-0699-08 TCGA-61-1919-11A-01W-0700-08 g.chr1:247614505A>T c.780T>A c.(778-780)atT>atA p.I260I OV 1 247614820 247614820 + Silent SNP A A G TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 g.chr1:247614820A>G c.465T>C c.(463-465)agT>agC p.S155S OV 1 247615261 247615261 + Frame_Shift_Del DEL G G - TCGA-25-1631-01A-01W-0615-10 TCGA-25-1631-10A-01W-0615-10 g.chr1:247615261delG c.24delC c.(22-24)ttcfs p.F8fs PAAD 1 247614372 247614372 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:247614372G>T c.913C>A c.(913-915)Ctg>Atg p.L305M PAAD 1 247614391 247614391 + Silent SNP A A G TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 g.chr1:247614391A>G c.894T>C c.(892-894)aaT>aaC p.N298N PAAD 1 247614397 247614397 + Silent SNP C C A TCGA-YB-A89D-01A-12D-A36O-08 TCGA-YB-A89D-10A-01D-A367-08 g.chr1:247614397C>A c.888G>T c.(886-888)ctG>ctT p.L296L PRAD 1 247614342 247614342 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:247614342G>A c.943C>T c.(943-945)Ctc>Ttc p.L315F PRAD 1 247614412 247614412 + Silent SNP G G T TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 g.chr1:247614412G>T c.873C>A c.(871-873)ccC>ccA p.P291P PRAD 1 247614554 247614554 + Missense_Mutation SNP G G A TCGA-KK-A7B2-01A-12D-A32B-08 TCGA-KK-A7B2-11A-11D-A329-08 g.chr1:247614554G>A c.731C>T c.(730-732)aCg>aTg p.T244M PRAD 1 247614682 247614682 + Silent SNP G G A TCGA-XK-AAK1-01A-11D-A41K-08 TCGA-XK-AAK1-10A-01D-A41N-08 g.chr1:247614682G>A c.603C>T c.(601-603)acC>acT p.T201T READ 1 247614573 247614573 + Nonsense_Mutation SNP G G A TCGA-G5-6641-01A-11D-1826-10 TCGA-G5-6641-10A-01D-1826-10 g.chr1:247614573G>A c.712C>T c.(712-714)Cga>Tga p.R238* READ 1 247614710 247614710 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:247614710G>A c.575C>T c.(574-576)tCg>tTg p.S192L READ 1 247614762 247614762 + Silent SNP G G T TCGA-AG-3608-01A-01W-0833-10 TCGA-AG-3608-10A-01W-0833-10 g.chr1:247614762G>T c.523C>A c.(523-525)Cgg>Agg p.R175R SARC 1 247614903 247614903 + Missense_Mutation SNP C C T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 g.chr1:247614903C>T c.382G>A c.(382-384)Gtg>Atg p.V128M SARC 1 247615033 247615033 + Missense_Mutation SNP C C A TCGA-DX-A8BJ-01A-11D-A417-09 TCGA-DX-A8BJ-10B-01D-A41A-09 g.chr1:247615033C>A c.252G>T c.(250-252)caG>caT p.Q84H SKCM 1 247614382 247614382 + Missense_Mutation SNP C C T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 g.chr1:247614382C>T c.903G>A c.(901-903)atG>atA p.M301I SKCM 1 247614447 247614447 + Missense_Mutation SNP G G A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 g.chr1:247614447G>A c.838C>T c.(838-840)Ctc>Ttc p.L280F SKCM 1 247614472 247614472 + Silent SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr1:247614472G>A c.813C>T c.(811-813)tcC>tcT p.S271S SKCM 1 247614572 247614572 + Missense_Mutation SNP C C T TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr1:247614572C>T c.713G>A c.(712-714)cGa>cAa p.R238Q SKCM 1 247614625 247614625 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr1:247614625G>A c.660C>T c.(658-660)ctC>ctT p.L220L SKCM 1 247614628 247614628 + Silent SNP A A G TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr1:247614628A>G c.657T>C c.(655-657)ctT>ctC p.L219L SKCM 1 247614630 247614630 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:247614630G>A c.655C>T c.(655-657)Ctt>Ttt p.L219F SKCM 1 247614640 247614640 + Silent SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr1:247614640C>T c.645G>A c.(643-645)ctG>ctA p.L215L SKCM 1 247614655 247614655 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:247614655G>A c.630C>T c.(628-630)ttC>ttT p.F210F SKCM 1 247614683 247614683 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr1:247614683G>A c.602C>T c.(601-603)aCc>aTc p.T201I SKCM 1 247614755 247614755 + Missense_Mutation SNP A A C TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:247614755A>C c.530T>G c.(529-531)gTg>gGg p.V177G SKCM 1 247614802 247614802 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:247614802G>A c.483C>T c.(481-483)ttC>ttT p.F161F SKCM 1 247614805 247614805 + Silent SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr1:247614805G>A c.480C>T c.(478-480)tcC>tcT p.S160S SKCM 1 247614805 247614805 + Silent SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr1:247614805G>T c.480C>A c.(478-480)tcC>tcA p.S160S SKCM 1 247614919 247614919 + Missense_Mutation SNP C C T TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr1:247614919C>T c.366G>A c.(364-366)atG>atA p.M122I SKCM 1 247614943 247614943 + Silent SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 g.chr1:247614943C>T c.342G>A c.(340-342)acG>acA p.T114T SKCM 1 247614950 247614950 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr1:247614950C>T c.335G>A c.(334-336)gGa>gAa p.G112E SKCM 1 247614961 247614961 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr1:247614961G>A c.324C>T c.(322-324)ttC>ttT p.F108F SKCM 1 247615041 247615041 + Missense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr1:247615041C>T c.244G>A c.(244-246)Gtc>Atc p.V82I SKCM 1 247615087 247615087 + Silent SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 g.chr1:247615087G>A c.198C>T c.(196-198)ttC>ttT p.F66F SKCM 1 247615124 247615124 + Missense_Mutation SNP C C T TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 g.chr1:247615124C>T c.161G>A c.(160-162)cGg>cAg p.R54Q SKCM 1 247615197 247615197 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr1:247615197G>A c.88C>T c.(88-90)Cct>Tct p.P30S

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 1 247614555 247614555 single base substitution T G missense_variant T244P 730A>C BLCA-US 1 247614709 247614709 single base substitution C T synonymous_variant S192S 576G>A BRCA-EU 1 247609689 247609689 single base substitution C G downstream_gene_variant BRCA-EU 1 247610123 247610123 single base substitution C G downstream_gene_variant BRCA-EU 1 247610272 247610272 single base substitution G T downstream_gene_variant BRCA-EU 1 247611178 247611178 single base substitution G C downstream_gene_variant BRCA-EU 1 247612666 247612666 single base substitution C G downstream_gene_variant BRCA-EU 1 247613147 247613147 single base substitution C A downstream_gene_variant BRCA-EU 1 247614088 247614088 single base substitution C T downstream_gene_variant BRCA-EU 1 247614813 247614813 single base substitution C T missense_variant G158S 472G>A BRCA-EU 1 247615684 247615684 single base substitution G A upstream_gene_variant BRCA-EU 1 247615809 247615809 single base substitution T G upstream_gene_variant BRCA-EU 1 247615828 247615828 single base substitution T A upstream_gene_variant BRCA-EU 1 247616130 247616130 single base substitution C T upstream_gene_variant BRCA-EU 1 247616189 247616189 single base substitution C T upstream_gene_variant BRCA-EU 1 247616560 247616560 single base substitution C T upstream_gene_variant BRCA-EU 1 247616852 247616852 single base substitution G C upstream_gene_variant BRCA-EU 1 247616961 247616961 single base substitution G C upstream_gene_variant BRCA-EU 1 247617781 247617781 single base substitution C G upstream_gene_variant BRCA-EU 1 247617966 247617966 single base substitution C G upstream_gene_variant BRCA-EU 1 247618023 247618023 single base substitution C G upstream_gene_variant BRCA-EU 1 247618708 247618708 single base substitution C G upstream_gene_variant BRCA-EU 1 247618981 247618981 single base substitution C T upstream_gene_variant BRCA-EU 1 247619642 247619642 single base substitution G A upstream_gene_variant BRCA-EU 1 247619682 247619682 single base substitution C A upstream_gene_variant BRCA-FR 1 247616130 247616130 single base substitution C T upstream_gene_variant BRCA-FR 1 247617781 247617781 single base substitution C G upstream_gene_variant BRCA-FR 1 247618708 247618708 single base substitution C G upstream_gene_variant BRCA-UK 1 247610498 247610498 single base substitution C G downstream_gene_variant BRCA-US 1 247614687 247614687 single base substitution C T missense_variant D200N 598G>A BRCA-US 1 247614794 247614794 single base substitution A C missense_variant V164G 491T>G BTCA-JP 1 247611593 247611593 single base substitution A T downstream_gene_variant BTCA-JP 1 247614814 247614814 single base substitution G A synonymous_variant F157F 471C>T COAD-US 1 247611746 247611746 single base substitution G A downstream_gene_variant COAD-US 1 247614485 247614485 deletion of <=200bp G - frameshift_variant P267 COAD-US 1 247614785 247614785 single base substitution G A missense_variant T167M 500C>T COAD-US 1 247614896 247614896 single base substitution A C missense_variant I130S 389T>G COAD-US 1 247614975 247614975 single base substitution G A stop_gained Q104* 310C>T COAD-US 1 247615090 247615090 single base substitution G T synonymous_variant I65I 195C>A COAD-US 1 247615147 247615147 single base substitution G A synonymous_variant N46N 138C>T COAD-US 1 247615281 247615281 single base substitution T C missense_variant K2E 4A>G COCA-CN 1 247611794 247611794 single base substitution G T downstream_gene_variant COCA-CN 1 247615008 247615008 single base substitution G A stop_gained Q93* 277C>T ESAD-UK 1 247609679 247609679 single base substitution T G downstream_gene_variant ESAD-UK 1 247610068 247610068 single base substitution G T downstream_gene_variant ESAD-UK 1 247610525 247610525 single base substitution C A downstream_gene_variant ESAD-UK 1 247612741 247612741 single base substitution T G downstream_gene_variant ESAD-UK 1 247614320 247614320 single base substitution T G 3_prime_UTR_variant ESAD-UK 1 247614491 247614491 single base substitution T G missense_variant Q265P 794A>C ESAD-UK 1 247614777 247614777 single base substitution A C missense_variant L170V 508T>G ESAD-UK 1 247614860 247614860 single base substitution C T missense_variant R142H 425G>A ESAD-UK 1 247614996 247614996 single base substitution T C missense_variant S97G 289A>G ESAD-UK 1 247615004 247615004 single base substitution T G missense_variant K94T 281A>C ESAD-UK 1 247615610 247615610 single base substitution G A upstream_gene_variant ESAD-UK 1 247616532 247616532 single base substitution G T upstream_gene_variant ESAD-UK 1 247617443 247617443 single base substitution T G upstream_gene_variant ESAD-UK 1 247618108 247618108 single base substitution A G upstream_gene_variant ESAD-UK 1 247618166 247618166 single base substitution T C upstream_gene_variant ESAD-UK 1 247618484 247618514 deletion of <=200bp ACCTACTCCATCACACAAGATGGAAAATCAA - upstream_gene_variant ESAD-UK 1 247619699 247619699 single base substitution T G upstream_gene_variant ESAD-UK 1 247619865 247619865 single base substitution A G upstream_gene_variant ESCA-CN 1 247614408 247614408 single base substitution T C missense_variant T293A 877A>G ESCA-CN 1 247614535 247614535 single base substitution C G missense_variant M250I 750G>C ESCA-CN 1 247614958 247614958 single base substitution G A synonymous_variant H109H 327C>T GBM-US 1 247614696 247614696 single base substitution C T missense_variant A197T 589G>A GBM-US 1 247614785 247614785 single base substitution G A missense_variant T167M 500C>T KIRC-US 1 247614532 247614532 single base substitution G A synonymous_variant I251I 753C>T LGG-US 1 247614765 247614765 single base substitution C T missense_variant G174R 520G>A LICA-CN 1 247614755 247614755 single base substitution A G missense_variant V177A 530T>C LICA-FR 1 247614918 247614918 single base substitution C T missense_variant A123T 367G>A LIHC-US 1 247614391 247614391 single base substitution A G synonymous_variant N298N 894T>C LIHC-US 1 247614658 247614658 single base substitution G T missense_variant F209L 627C>A LIHC-US 1 247615077 247615077 deletion of <=200bp G - frameshift_variant L70 LINC-JP 1 247611459 247611459 single base substitution G A downstream_gene_variant LINC-JP 1 247612881 247612881 single base substitution A G downstream_gene_variant LINC-JP 1 247614570 247614570 single base substitution G A missense_variant H239Y 715C>T LINC-JP 1 247614865 247614865 single base substitution C A missense_variant M140I 420G>T LINC-JP 1 247615092 247615092 single base substitution T A missense_variant I65F 193A>T LINC-JP 1 247617933 247617933 single base substitution T C upstream_gene_variant LIRI-JP 1 247609549 247609549 single base substitution T C downstream_gene_variant LIRI-JP 1 247610299 247610299 single base substitution A G downstream_gene_variant LIRI-JP 1 247610317 247610317 single base substitution C T downstream_gene_variant LIRI-JP 1 247610539 247610539 single base substitution G A downstream_gene_variant LIRI-JP 1 247610540 247610540 single base substitution C A downstream_gene_variant LIRI-JP 1 247610691 247610691 single base substitution A T downstream_gene_variant LIRI-JP 1 247611948 247611948 single base substitution C G downstream_gene_variant LIRI-JP 1 247613536 247613536 single base substitution C G downstream_gene_variant LIRI-JP 1 247614583 247614583 single base substitution G A synonymous_variant S234S 702C>T LIRI-JP 1 247615015 247615015 single base substitution G T synonymous_variant G90G 270C>A LIRI-JP 1 247615161 247615161 single base substitution C T missense_variant A42T 124G>A LIRI-JP 1 247615763 247615763 single base substitution A G upstream_gene_variant LIRI-JP 1 247616039 247616039 single base substitution A T upstream_gene_variant LIRI-JP 1 247616511 247616511 single base substitution C A upstream_gene_variant LIRI-JP 1 247617068 247617068 single base substitution C A upstream_gene_variant LIRI-JP 1 247617428 247617428 single base substitution T C upstream_gene_variant LIRI-JP 1 247617755 247617755 single base substitution A G upstream_gene_variant LIRI-JP 1 247619383 247619383 single base substitution G A upstream_gene_variant LUSC-KR 1 247609816 247609816 single base substitution T G downstream_gene_variant LUSC-KR 1 247611526 247611526 single base substitution C A downstream_gene_variant LUSC-KR 1 247615252 247615252 single base substitution G A synonymous_variant D11D 33C>T LUSC-KR 1 247618652 247618652 single base substitution G C upstream_gene_variant LUSC-KR 1 247619553 247619553 single base substitution G A upstream_gene_variant LUSC-US 1 247614352 247614352 single base substitution C T synonymous_variant R311R 933G>A LUSC-US 1 247614643 247614643 single base substitution G C synonymous_variant P214P 642C>G LUSC-US 1 247614672 247614672 single base substitution C G missense_variant V205L 613G>C LUSC-US 1 247614764 247614764 single base substitution C A missense_variant G174V 521G>T LUSC-US 1 247614885 247614885 single base substitution G A synonymous_variant L134L 400C>T LUSC-US 1 247614912 247614912 single base substitution C G missense_variant D125H 373G>C LUSC-US 1 247614915 247614915 single base substitution G T missense_variant L124M 370C>A LUSC-US 1 247614957 247614957 deletion of <=200bp A - frameshift_variant W110 LUSC-US 1 247615099 247615099 single base substitution G T synonymous_variant P62P 186C>A LUSC-US 1 247615100 247615100 single base substitution G T missense_variant P62H 185C>A LUSC-US 1 247615153 247615153 single base substitution C A missense_variant L44F 132G>T LUSC-US 1 247615256 247615256 single base substitution C A missense_variant G10V 29G>T MELA-AU 1 247609444 247609444 single base substitution A T downstream_gene_variant MELA-AU 1 247609466 247609466 single base substitution C T downstream_gene_variant MELA-AU 1 247609721 247609721 single base substitution C T downstream_gene_variant MELA-AU 1 247609728 247609728 single base substitution C T downstream_gene_variant MELA-AU 1 247609737 247609737 single base substitution C T downstream_gene_variant MELA-AU 1 247610108 247610108 single base substitution C T downstream_gene_variant MELA-AU 1 247610273 247610273 single base substitution G A downstream_gene_variant MELA-AU 1 247610491 247610491 single base substitution C T downstream_gene_variant MELA-AU 1 247610503 247610503 single base substitution G A downstream_gene_variant MELA-AU 1 247610532 247610532 single base substitution C T downstream_gene_variant MELA-AU 1 247610534 247610534 single base substitution G A downstream_gene_variant MELA-AU 1 247610680 247610680 single base substitution C T downstream_gene_variant MELA-AU 1 247610713 247610713 single base substitution C T downstream_gene_variant MELA-AU 1 247610876 247610876 single base substitution G A downstream_gene_variant MELA-AU 1 247610908 247610908 single base substitution C T downstream_gene_variant MELA-AU 1 247611266 247611266 single base substitution A C downstream_gene_variant MELA-AU 1 247612059 247612059 single base substitution G A downstream_gene_variant MELA-AU 1 247612234 247612234 single base substitution G A downstream_gene_variant MELA-AU 1 247612429 247612429 single base substitution C T downstream_gene_variant MELA-AU 1 247612826 247612826 single base substitution C T downstream_gene_variant MELA-AU 1 247612994 247612994 single base substitution G A downstream_gene_variant MELA-AU 1 247613180 247613180 single base substitution G A downstream_gene_variant MELA-AU 1 247613299 247613299 single base substitution T G downstream_gene_variant MELA-AU 1 247613510 247613510 single base substitution G A downstream_gene_variant MELA-AU 1 247613540 247613540 single base substitution G A downstream_gene_variant MELA-AU 1 247614179 247614179 single base substitution G A downstream_gene_variant MELA-AU 1 247614352 247614352 single base substitution C T synonymous_variant R311R 933G>A MELA-AU 1 247614508 247614508 single base substitution C T synonymous_variant A259A 777G>A MELA-AU 1 247614532 247614532 single base substitution G A synonymous_variant I251I 753C>T MELA-AU 1 247614535 247614535 single base substitution C T missense_variant M250I 750G>A MELA-AU 1 247614572 247614572 single base substitution C T missense_variant R238Q 713G>A MELA-AU 1 247614655 247614655 single base substitution G A synonymous_variant F210F 630C>T MELA-AU 1 247614683 247614683 single base substitution G A missense_variant T201I 602C>T MELA-AU 1 247614875 247614875 single base substitution G A missense_variant A137V 410C>T MELA-AU 1 247615010 247615010 single base substitution G A missense_variant S92F 275C>T MELA-AU 1 247615069 247615069 single base substitution G A synonymous_variant F72F 216C>T MELA-AU 1 247615087 247615087 single base substitution G A synonymous_variant F66F 198C>T MELA-AU 1 247615392 247615392 single base substitution C T upstream_gene_variant MELA-AU 1 247615554 247615554 single base substitution A T upstream_gene_variant MELA-AU 1 247615732 247615732 single base substitution C T upstream_gene_variant MELA-AU 1 247615775 247615775 single base substitution G A upstream_gene_variant MELA-AU 1 247615877 247615877 single base substitution C T upstream_gene_variant MELA-AU 1 247615885 247615885 single base substitution C T upstream_gene_variant MELA-AU 1 247616071 247616071 single base substitution G A upstream_gene_variant MELA-AU 1 247616072 247616072 single base substitution G A upstream_gene_variant MELA-AU 1 247616146 247616146 single base substitution G A upstream_gene_variant MELA-AU 1 247616452 247616452 single base substitution C A upstream_gene_variant MELA-AU 1 247616634 247616634 single base substitution G A upstream_gene_variant MELA-AU 1 247616832 247616832 single base substitution C T upstream_gene_variant MELA-AU 1 247617496 247617497 multiple base substitution (>=2bp and <=200bp) CA TG upstream_gene_variant MELA-AU 1 247617572 247617572 single base substitution G A upstream_gene_variant MELA-AU 1 247617638 247617638 single base substitution C T upstream_gene_variant MELA-AU 1 247617703 247617703 single base substitution C T upstream_gene_variant MELA-AU 1 247617735 247617735 single base substitution C T upstream_gene_variant MELA-AU 1 247617753 247617753 single base substitution G A upstream_gene_variant MELA-AU 1 247617796 247617796 single base substitution C T upstream_gene_variant MELA-AU 1 247617804 247617804 single base substitution C T upstream_gene_variant MELA-AU 1 247618075 247618075 single base substitution C T upstream_gene_variant MELA-AU 1 247618077 247618077 single base substitution G A upstream_gene_variant MELA-AU 1 247618100 247618100 single base substitution C T upstream_gene_variant MELA-AU 1 247618126 247618126 single base substitution C T upstream_gene_variant MELA-AU 1 247618131 247618131 single base substitution G A upstream_gene_variant MELA-AU 1 247618211 247618211 single base substitution G A upstream_gene_variant MELA-AU 1 247618372 247618372 single base substitution G A upstream_gene_variant MELA-AU 1 247618373 247618373 single base substitution G T upstream_gene_variant MELA-AU 1 247618418 247618418 single base substitution C T upstream_gene_variant MELA-AU 1 247618492 247618492 single base substitution C T upstream_gene_variant MELA-AU 1 247618666 247618666 single base substitution C T upstream_gene_variant MELA-AU 1 247618697 247618697 single base substitution G A upstream_gene_variant MELA-AU 1 247618699 247618699 single base substitution G A upstream_gene_variant MELA-AU 1 247618750 247618750 single base substitution C T upstream_gene_variant MELA-AU 1 247618800 247618800 single base substitution C A upstream_gene_variant MELA-AU 1 247618808 247618808 single base substitution C T upstream_gene_variant MELA-AU 1 247618817 247618817 single base substitution G A upstream_gene_variant MELA-AU 1 247618829 247618829 single base substitution C T upstream_gene_variant MELA-AU 1 247618899 247618899 single base substitution G A upstream_gene_variant MELA-AU 1 247619052 247619052 single base substitution G A upstream_gene_variant MELA-AU 1 247619147 247619147 single base substitution C T upstream_gene_variant MELA-AU 1 247619262 247619262 single base substitution G A upstream_gene_variant MELA-AU 1 247619328 247619328 single base substitution G T upstream_gene_variant MELA-AU 1 247619459 247619459 single base substitution C T upstream_gene_variant MELA-AU 1 247619529 247619529 single base substitution G A upstream_gene_variant MELA-AU 1 247619669 247619669 single base substitution G A upstream_gene_variant MELA-AU 1 247619770 247619770 single base substitution G A upstream_gene_variant MELA-AU 1 247619822 247619822 single base substitution G A upstream_gene_variant MELA-AU 1 247619823 247619823 single base substitution G A upstream_gene_variant MELA-AU 1 247619892 247619892 single base substitution G A upstream_gene_variant MELA-AU 1 247620044 247620044 single base substitution T G upstream_gene_variant MELA-AU 1 247620072 247620072 single base substitution C T upstream_gene_variant MELA-AU 1 247620294 247620294 single base substitution C T upstream_gene_variant OV-AU 1 247613975 247613975 single base substitution C G downstream_gene_variant OV-AU 1 247616026 247616026 single base substitution G A upstream_gene_variant OV-AU 1 247616368 247616368 single base substitution C T upstream_gene_variant OV-AU 1 247619272 247619272 single base substitution T A upstream_gene_variant PACA-AU 1 247610362 247610362 single base substitution A C downstream_gene_variant PACA-AU 1 247610708 247610708 single base substitution C A downstream_gene_variant PACA-AU 1 247613223 247613223 single base substitution G C downstream_gene_variant PACA-AU 1 247613256 247613256 single base substitution G A downstream_gene_variant PACA-AU 1 247613359 247613359 single base substitution C A downstream_gene_variant PACA-AU 1 247614843 247614843 single base substitution G A missense_variant L148F 442C>T PACA-AU 1 247614925 247614925 single base substitution G A synonymous_variant A120A 360C>T PACA-AU 1 247616401 247616401 single base substitution G A upstream_gene_variant PACA-AU 1 247617335 247617335 single base substitution G A upstream_gene_variant PACA-CA 1 247610953 247610953 single base substitution G T downstream_gene_variant PACA-CA 1 247613298 247613298 single base substitution C G downstream_gene_variant PACA-CA 1 247613353 247613353 single base substitution C T downstream_gene_variant PACA-CA 1 247614548 247614548 single base substitution G A missense_variant S246F 737C>T PACA-CA 1 247614801 247614801 single base substitution C T missense_variant V162M 484G>A PACA-CA 1 247614924 247614924 single base substitution C T missense_variant A121T 361G>A PACA-CA 1 247615029 247615029 single base substitution G A synonymous_variant L86L 256C>T PACA-CA 1 247616283 247616283 single base substitution C T upstream_gene_variant PACA-CA 1 247618228 247618228 single base substitution C T upstream_gene_variant PAEN-IT 1 247617268 247617268 single base substitution A T upstream_gene_variant PBCA-DE 1 247613192 247613192 single base substitution G T downstream_gene_variant PBCA-DE 1 247613535 247613535 single base substitution G A downstream_gene_variant PRAD-CA 1 247610773 247610773 single base substitution C T downstream_gene_variant PRAD-UK 1 247613609 247613609 single base substitution C A downstream_gene_variant PRAD-US 1 247614412 247614412 single base substitution G T synonymous_variant P291P 873C>A PRAD-US 1 247615283 247615283 single base substitution A T start_lost M1K 2T>A READ-US 1 247614449 247614449 single base substitution G T missense_variant S279Y 836C>A READ-US 1 247614573 247614573 single base substitution G A stop_gained R238* 712C>T RECA-EU 1 247613697 247613697 single base substitution T A downstream_gene_variant RECA-EU 1 247614412 247614412 single base substitution G T synonymous_variant P291P 873C>A SKCA-BR 1 247609379 247609379 single base substitution C T downstream_gene_variant SKCA-BR 1 247613581 247613581 single base substitution C T downstream_gene_variant SKCA-BR 1 247614288 247614288 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 247614802 247614802 single base substitution G A synonymous_variant F161F 483C>T SKCA-BR 1 247618100 247618100 single base substitution C T upstream_gene_variant SKCA-BR 1 247618446 247618446 single base substitution G A upstream_gene_variant SKCA-BR 1 247619862 247619862 single base substitution C T upstream_gene_variant SKCA-BR 1 247620305 247620305 single base substitution C T upstream_gene_variant SKCM-US 1 247614382 247614382 single base substitution C T missense_variant M301I 903G>A SKCM-US 1 247614409 247614409 single base substitution G A synonymous_variant F292F 876C>T SKCM-US 1 247614447 247614447 single base substitution G A missense_variant L280F 838C>T SKCM-US 1 247614472 247614472 single base substitution G A synonymous_variant S271S 813C>T SKCM-US 1 247614532 247614532 single base substitution G A synonymous_variant I251I 753C>T SKCM-US 1 247614572 247614572 single base substitution C T missense_variant R238Q 713G>A SKCM-US 1 247614625 247614625 single base substitution G A synonymous_variant L220L 660C>T SKCM-US 1 247614628 247614628 single base substitution A G synonymous_variant L219L 657T>C SKCM-US 1 247614630 247614630 single base substitution G A missense_variant L219F 655C>T SKCM-US 1 247614640 247614640 single base substitution C T synonymous_variant L215L 645G>A SKCM-US 1 247614655 247614655 single base substitution G A synonymous_variant F210F 630C>T SKCM-US 1 247614683 247614683 single base substitution G A missense_variant T201I 602C>T SKCM-US 1 247614755 247614755 single base substitution A C missense_variant V177G 530T>G SKCM-US 1 247614802 247614802 single base substitution G A synonymous_variant F161F 483C>T SKCM-US 1 247614805 247614805 single base substitution G A synonymous_variant S160S 480C>T SKCM-US 1 247614805 247614805 single base substitution G T synonymous_variant S160S 480C>A SKCM-US 1 247614919 247614919 single base substitution C T missense_variant M122I 366G>A SKCM-US 1 247614950 247614950 single base substitution C T missense_variant G112E 335G>A SKCM-US 1 247614961 247614961 single base substitution G A synonymous_variant F108F 324C>T SKCM-US 1 247615041 247615041 single base substitution C T missense_variant V82I 244G>A SKCM-US 1 247615087 247615087 single base substitution G A synonymous_variant F66F 198C>T SKCM-US 1 247615197 247615197 single base substitution G A missense_variant P30S 88C>T STAD-US 1 247614356 247614356 single base substitution G A missense_variant A310V 929C>T STAD-US 1 247614782 247614782 single base substitution A T missense_variant V168E 503T>A STAD-US 1 247614785 247614785 single base substitution G A missense_variant T167M 500C>T STAD-US 1 247614817 247614817 single base substitution G T synonymous_variant G156G 468C>A STAD-US 1 247614857 247614857 single base substitution G A missense_variant A143V 428C>T STAD-US 1 247614943 247614943 single base substitution C T synonymous_variant T114T 342G>A THCA-SA 1 247612036 247612036 single base substitution G C downstream_gene_variant THCA-SA 1 247614617 247614617 single base substitution C T missense_variant G223D 668G>A THCA-SA 1 247614933 247614933 single base substitution C T missense_variant V118I 352G>A UCEC-US 1 247611774 247611774 single base substitution G A downstream_gene_variant UCEC-US 1 247614342 247614342 single base substitution G A missense_variant L315F 943C>T UCEC-US 1 247614532 247614532 single base substitution G A synonymous_variant I251I 753C>T UCEC-US 1 247614573 247614573 single base substitution G A stop_gained R238* 712C>T UCEC-US 1 247614654 247614654 single base substitution C T missense_variant V211M 631G>A UCEC-US 1 247614762 247614762 single base substitution G A missense_variant R175W 523C>T UCEC-US 1 247614766 247614766 single base substitution G A synonymous_variant C173C 519C>T UCEC-US 1 247614785 247614785 single base substitution G A missense_variant T167M 500C>T UCEC-US 1 247614814 247614814 single base substitution G A synonymous_variant F157F 471C>T UCEC-US 1 247614861 247614861 single base substitution G A missense_variant R142C 424C>T UCEC-US 1 247614947 247614947 single base substitution C T missense_variant C113Y 338G>A UCEC-US 1 247615086 247615086 single base substitution G A missense_variant L67F 199C>T UCEC-US 1 247615090 247615090 single base substitution G T synonymous_variant I65I 195C>A UCEC-US 1 247615234 247615234 single base substitution G C missense_variant I17M 51C>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BC-A112-01 COSM4936576 c.627C>A p.F209L Substitution - Missense 1:247451356-247451356 - TCGA-GN-A266-06 COSM3486640 c.480C>A p.S160S Substitution - coding silent 1:247451503-247451503 - TCGA-B5-A11E-01 COSM907011 c.199C>T p.L67F Substitution - Missense 1:247451784-247451784 - LP6005690-DNA_F02 COSM4412316 c.508T>G p.L170V Substitution - Missense 1:247451475-247451475 - TCGA-EE-A3JI-06 COSM3486638 c.602C>T p.T201I Substitution - Missense 1:247451381-247451381 - TCGA-EE-A3JD-06 COSM4396136 c.645G>A p.L215L Substitution - coding silent 1:247451338-247451338 - ESCC_BICR_022T COSM5443023 c.327C>T p.H109H Substitution - coding silent 1:247451656-247451656 - RK202_C01 COSM3741165 c.270C>A p.G90G Substitution - coding silent 1:247451713-247451713 - TCGA-EE-A2GO-06 COSM3486644 c.88C>T p.P30S Substitution - Missense 1:247451895-247451895 - PTC-7C COSM3751085 c.389T>G p.I130S Substitution - Missense 1:247451594-247451594 - RC-1 COSM328601 c.732G>A p.T244T Substitution - coding silent 1:247451251-247451251 - TCGA-AA-3681-01 COSM268083 c.799C>T p.P267S Substitution - Missense 1:247451184-247451184 - RC-8 COSM328601 c.732G>A p.T244T Substitution - coding silent 1:247451251-247451251 - TCGA-DA-A1I2-06 COSM3486643 c.198C>T p.F66F Substitution - coding silent 1:247451785-247451785 - TCGA-60-2715-01 COSM680717 c.370C>A p.L124M Substitution - Missense 1:247451613-247451613 - TCGA-CC-A1HT-01 COSM4928291 c.894T>C p.N298N Substitution - coding silent 1:247451089-247451089 - TCGA-25-1631-01 COSM111562 c.24delC p.L9fs*1 Deletion - Frameshift 1:247451959-247451959 - LS180 COSM2232043 c.418A>G p.M140V Substitution - Missense 1:247451565-247451565 - TCGA-FW-A3R5-06 COSM533839 c.630C>T p.F210F Substitution - coding silent 1:247451353-247451353 - TCGA-HU-A4GX-01 COSM907008 c.500C>T p.T167M Substitution - Missense 1:247451483-247451483 - YUKAT COSM5380359 c.341C>A p.T114K Substitution - Missense 1:247451642-247451642 - TCGA-D1-A17L-01 COSM907006 c.523C>T p.R175W Substitution - Missense 1:247451460-247451460 - 2492703 COSM5600110 c.186C>T p.P62P Substitution - coding silent 1:247451797-247451797 - TCGA-EE-A2GI-06 COSM3486641 c.324C>T p.F108F Substitution - coding silent 1:247451659-247451659 - 2492700 COSM5600110 c.186C>T p.P62P Substitution - coding silent 1:247451797-247451797 - TCGA-EJ-5521-01 COSM680723 c.873C>A p.P291P Substitution - coding silent 1:247451110-247451110 - 388 COSM97904 c.382G>A p.V128M Substitution - Missense 1:247451601-247451601 - CHC322T COSM3746893 c.668G>A p.G223D Substitution - Missense 1:247451315-247451315 - T144 COSM307510 c.754G>A p.V252I Substitution - Missense 1:247451229-247451229 - PR-04-3113 COSM246221 c.431T>A p.L144H Substitution - Missense 1:247451552-247451552 - TCGA-AM-5821-01 COSM3751085 c.389T>G p.I130S Substitution - Missense 1:247451594-247451594 - 8031644 COSM3386006 c.442C>T p.L148F Substitution - Missense 1:247451541-247451541 - RC-16 COSM328601 c.732G>A p.T244T Substitution - coding silent 1:247451251-247451251 - TCGA-D1-A103-01 COSM907005 c.631G>A p.V211M Substitution - Missense 1:247451352-247451352 - TCGA-BP-5200-01 COSM464286 c.753C>T p.I251I Substitution - coding silent 1:247451230-247451230 - TCGA-60-2726-01 COSM680720 c.521G>T p.G174V Substitution - Missense 1:247451462-247451462 - CSCC-27-T COSM4507887 c.759C>T p.S253S Substitution - coding silent 1:247451224-247451224 - HCC89T COSM1602066 c.715C>T p.H239Y Substitution - Missense 1:247451268-247451268 - S00050 COSM317734 c.35C>A p.S12Y Substitution - Missense 1:247451948-247451948 - RC-12 COSM328601 c.732G>A p.T244T Substitution - coding silent 1:247451251-247451251 - TCGA-BS-A0UV-01 COSM907007 c.519C>T p.C173C Substitution - coding silent 1:247451464-247451464 - ESCC_12 COSM2232045 c.367G>A p.A123T Substitution - Missense 1:247451616-247451616 - TCGA-BG-A0VW-01 COSM907010 c.338G>A p.C113Y Substitution - Missense 1:247451645-247451645 - TCGA-EE-A29V-06 COSM3486642 c.244G>A p.V82I Substitution - Missense 1:247451739-247451739 - TCGA-19-1790-01 COSM2232038 c.589G>A p.A197T Substitution - Missense 1:247451394-247451394 - TCGA-BR-6458-01 COSM4030548 c.503T>A p.V168E Substitution - Missense 1:247451480-247451480 - TCGA-06-0877-01 COSM907008 c.500C>T p.T167M Substitution - Missense 1:247451483-247451483 - CSCC-38-T COSM4493184 c.410C>T p.A137V Substitution - Missense 1:247451573-247451573 - TCGA-F4-6856-01 COSM1340976 c.138C>T p.N46N Substitution - coding silent 1:247451845-247451845 - TCGA-G5-6641-01 COSM246222 c.712C>T p.R238* Substitution - Nonsense 1:247451271-247451271 - ESO-043 COSM1260113 c.74C>T p.P25L Substitution - Missense 1:247451909-247451909 - LUAD-5V8LT COSM400996 c.928G>T p.A310S Substitution - Missense 1:247451055-247451055 - Patient1_Tu COSM1235650 c.245T>C p.V82A Substitution - Missense 1:247451738-247451738 - YUBAN COSM1690089 c.758C>T p.S253F Substitution - Missense 1:247451225-247451225 - HCC148 COSM3705715 c.420G>T p.M140I Substitution - Missense 1:247451563-247451563 - TCGA-AA-A01S-01 COSM300194 c.520G>A p.G174R Substitution - Missense 1:247451463-247451463 - 041T COSM1728922 c.181A>T p.S61C Substitution - Missense 1:247451802-247451802 - TCGA-AX-A0J0-01 COSM210684 c.471C>T p.F157F Substitution - coding silent 1:247451512-247451512 - 2492711 COSM907007 c.519C>T p.C173C Substitution - coding silent 1:247451464-247451464 - TCGA-AX-A0J0-01 COSM464286 c.753C>T p.I251I Substitution - coding silent 1:247451230-247451230 - TCGA-18-3416-01 COSM680722 c.642C>G p.P214P Substitution - coding silent 1:247451341-247451341 - S00841 COSM317735 c.826A>G p.K276E Substitution - Missense 1:247451157-247451157 - YUGAFFE COSM1690090 c.366G>A p.M122I Substitution - Missense 1:247451617-247451617 - TCGA-A2-A0T6-01 COSM3804688 c.491T>G p.V164G Substitution - Missense 1:247451492-247451492 - SNUH_G73_S1 COSM3751085 c.389T>G p.I130S Substitution - Missense 1:247451594-247451594 - T98G COSM5713051 c.23delT p.F8fs*2 Deletion - Frameshift 1:247451960-247451960 - PCSI_0164_Pa_P_526 COSM3785222 c.737C>T p.S246F Substitution - Missense 1:247451246-247451246 - TCGA-06-0877 COSM907008 c.500C>T p.T167M Substitution - Missense 1:247451483-247451483 - RK259_C01 COSM4944571 c.702C>T p.S234S Substitution - coding silent 1:247451281-247451281 - 824_T COSM3977406 c.813C>G p.S271S Substitution - coding silent 1:247451170-247451170 - sysucc-1370T COSM5470018 c.277C>T p.Q93* Substitution - Nonsense 1:247451706-247451706 - S00827 COSM4030547 c.929C>T p.A310V Substitution - Missense 1:247451054-247451054 - TCGA-AG-3608-01 COSM288116 c.523C>A p.R175R Substitution - coding silent 1:247451460-247451460 - CSCC-44-T COSM4456152 c.321_322CT>TC p.F108L Substitution - Missense 1:247451661-247451662 - LUAD-F00368 COSM367667 c.552G>T p.E184D Substitution - Missense 1:247451431-247451431 - HCC89 COSM1602066 c.715C>T p.H239Y Substitution - Missense 1:247451268-247451268 - RC-T COSM328601 c.732G>A p.T244T Substitution - coding silent 1:247451251-247451251 - CSCC-40-T COSM3865054 c.483C>T p.F161F Substitution - coding silent 1:247451500-247451500 - TCGA-AA-A00N-01 COSM276473 c.777G>A p.A259A Substitution - coding silent 1:247451206-247451206 - TCGA-BK-A139-01 COSM907013 c.51C>G p.I17M Substitution - Missense 1:247451932-247451932 - S00050 COSM317734 c.35C>A p.S12Y Substitution - Missense 1:247451948-247451948 - 2492702 COSM5600110 c.186C>T p.P62P Substitution - coding silent 1:247451797-247451797 - PS-286-7D COSM2232056 c.108G>A p.L36L Substitution - coding silent 1:247451875-247451875 - HCC021T COSM5815441 c.530T>C p.V177A Substitution - Missense 1:247451453-247451453 - SJHGG012_D COSM533834 c.142G>A p.A48T Substitution - Missense 1:247451841-247451841 - RC-13 COSM328601 c.732G>A p.T244T Substitution - coding silent 1:247451251-247451251 - 134427 COSM322254 c.718A>G p.K240E Substitution - Missense 1:247451265-247451265 - RK308_C01 COSM3741166 c.124G>A p.A42T Substitution - Missense 1:247451859-247451859 - HCC166T COSM3705716 c.193A>T p.I65F Substitution - Missense 1:247451790-247451790 - LN18 COSM5713051 c.23delT p.F8fs*2 Deletion - Frameshift 1:247451960-247451960 - T469 COSM4709748 c.488A>T p.Q163L Substitution - Missense 1:247451495-247451495 - TCGA-AX-A06H-01 COSM907008 c.500C>T p.T167M Substitution - Missense 1:247451483-247451483 - TCGA-21-1077-01 COSM680714 c.185C>A p.P62H Substitution - Missense 1:247451798-247451798 - TCGA-FW-A3R5-06 COSM3865052 c.655C>T p.L219F Substitution - Missense 1:247451328-247451328 - ESCC-216T COSM3934620 c.750G>C p.M250I Substitution - Missense 1:247451233-247451233 - LS174T COSM2232043 c.418A>G p.M140V Substitution - Missense 1:247451565-247451565 - LUAD_E01419 COSM390948 c.207C>A p.H69Q Substitution - Missense 1:247451776-247451776 - 49M COSM464286 c.753C>T p.I251I Substitution - coding silent 1:247451230-247451230 - TCGA-BR-8081-01 COSM4030551 c.342G>A p.T114T Substitution - coding silent 1:247451641-247451641 - MOLT-4 COSM1668640 c.556C>T p.P186S Substitution - Missense 1:247451427-247451427 - TCGA-EE-A3JD-06 COSM3486635 c.813C>T p.S271S Substitution - coding silent 1:247451170-247451170 - 2492714 COSM907007 c.519C>T p.C173C Substitution - coding silent 1:247451464-247451464 - TCGA-21-1077-01 COSM680716 c.186C>A p.P62P Substitution - coding silent 1:247451797-247451797 - SNUH_G10_S1 COSM3746893 c.668G>A p.G223D Substitution - Missense 1:247451315-247451315 - S02344 COSM5693250 c.792G>T p.L264L Substitution - coding silent 1:247451191-247451191 - CSCC-19-T COSM4563026 c.953G>A p.*318* Substitution - coding silent 1:247451030-247451030 - CHC1534T COSM2232045 c.367G>A p.A123T Substitution - Missense 1:247451616-247451616 - YULAN COSM1690088 c.823G>A p.G275S Substitution - Missense 1:247451160-247451160 - TCGA-21-5787-01 COSM680713 c.29G>T p.G10V Substitution - Missense 1:247451954-247451954 - PTC-7C COSM3746893 c.668G>A p.G223D Substitution - Missense 1:247451315-247451315 - TCGA-BG-A0VT-01 COSM246222 c.712C>T p.R238* Substitution - Nonsense 1:247451271-247451271 - S00841 COSM317735 c.826A>G p.K276E Substitution - Missense 1:247451157-247451157 - C086 COSM3785222 c.737C>T p.S246F Substitution - Missense 1:247451246-247451246 - CSCC-7-T COSM4505573 c.696C>T p.I232I Substitution - coding silent 1:247451287-247451287 - TCGA-39-5030-01 COSM680718 c.373G>C p.D125H Substitution - Missense 1:247451610-247451610 - PD9582a COSM2232040 c.472G>A p.G158S Substitution - Missense 1:247451511-247451511 - BD121T COSM210684 c.471C>T p.F157F Substitution - coding silent 1:247451512-247451512 - SNU-175 COSM2232042 c.430C>T p.L144F Substitution - Missense 1:247451553-247451553 - T1772 COSM4709749 c.57G>T p.L19L Substitution - coding silent 1:247451926-247451926 - TCGA-EB-A3XC-01 COSM464286 c.753C>T p.I251I Substitution - coding silent 1:247451230-247451230 - CSCC-15-T COSM4490856 c.36C>T p.S12S Substitution - coding silent 1:247451947-247451947 - TCGA-34-5232-01 COSM680724 c.933G>A p.R311R Substitution - coding silent 1:247451050-247451050 - TCGA-AP-A056-01 COSM907004 c.943C>T p.L315F Substitution - Missense 1:247451040-247451040 - TCGA-B5-A0JY-01 COSM907009 c.424C>T p.R142C Substitution - Missense 1:247451559-247451559 - LUAD-D01603 COSM391464 c.367delG p.A123fs*44 Deletion - Frameshift 1:247451616-247451616 - 8069443 COSM3771684 c.360C>T p.A120A Substitution - coding silent 1:247451623-247451623 - RC-11 COSM328601 c.732G>A p.T244T Substitution - coding silent 1:247451251-247451251 - HCC2998 COSM210684 c.471C>T p.F157F Substitution - coding silent 1:247451512-247451512 - 2492701 COSM5600110 c.186C>T p.P62P Substitution - coding silent 1:247451797-247451797 - TCGA-EI-6917-01 COSM3419027 c.836C>A p.S279Y Substitution - Missense 1:247451147-247451147 - ESCC-127T COSM3934619 c.877A>G p.T293A Substitution - Missense 1:247451106-247451106 - TCGA-B4-5835-01 COSM1492007 c.310C>A p.Q104K Substitution - Missense 1:247451673-247451673 - LUAD-S01357 COSM386250 c.812C>A p.S271Y Substitution - Missense 1:247451171-247451171 - TCGA-CG-5728-01 COSM4030550 c.428C>T p.A143V Substitution - Missense 1:247451555-247451555 - LUAD-RT-S01477 COSM377386 c.800C>T p.P267L Substitution - Missense 1:247451183-247451183 - RC-4 COSM328601 c.732G>A p.T244T Substitution - coding silent 1:247451251-247451251 - PA333 COSM307510 c.754G>A p.V252I Substitution - Missense 1:247451229-247451229 - TCGA-G9-6343-01 COSM3671691 c.2T>A p.M1K Substitution - Missense 1:247451981-247451981 - 2492712 COSM907007 c.519C>T p.C173C Substitution - coding silent 1:247451464-247451464 - B89-4-Tumor COSM1748289 c.730A>C p.T244P Substitution - Missense 1:247451253-247451253 - TCGA-FS-A1YX-06 COSM3486632 c.903G>A p.M301I Substitution - Missense 1:247451080-247451080 - YUTUR COSM5380360 c.165G>A p.V55V Substitution - coding silent 1:247451818-247451818 - U373 COSM5713051 c.23delT p.F8fs*2 Deletion - Frameshift 1:247451960-247451960 - 2492713 COSM907007 c.519C>T p.C173C Substitution - coding silent 1:247451464-247451464 - CSCC-16-T COSM4504344 c.662C>T p.S221F Substitution - Missense 1:247451321-247451321 - CHC1534T COSM2232045 c.367G>A p.A123T Substitution - Missense 1:247451616-247451616 - TCGA-56-6546-01 COSM680721 c.613G>C p.V205L Substitution - Missense 1:247451370-247451370 - YUJUBE COSM5380358 c.370C>T p.L124L Substitution - coding silent 1:247451613-247451613 - TCGA-61-1919-01 COSM118629 c.780T>A p.I260I Substitution - coding silent 1:247451203-247451203 - HCC166 COSM3705716 c.193A>T p.I65F Substitution - Missense 1:247451790-247451790 - C086 COSM5536079 c.82G>A p.E28K Substitution - Missense 1:247451901-247451901 - Patient_1 COSM3865052 c.655C>T p.L219F Substitution - Missense 1:247451328-247451328 - TCGA-CA-6717-01 COSM907012 c.195C>A p.I65I Substitution - coding silent 1:247451788-247451788 - LIM1215 COSM4235486 c.616C>T p.L206L Substitution - coding silent 1:247451367-247451367 - YUPAER COSM2232029 c.849C>T p.S283S Substitution - coding silent 1:247451134-247451134 - Au4 COSM5604338 c.275C>T p.S92F Substitution - Missense 1:247451708-247451708 - TCGA-GV-A3QG-01 COSM1296139 c.576G>A p.S192S Substitution - coding silent 1:247451407-247451407 - TCGA-GN-A269-01 COSM3486633 c.876C>T p.F292F Substitution - coding silent 1:247451107-247451107 - TCGA-EB-A299-01 COSM3486635 c.813C>T p.S271S Substitution - coding silent 1:247451170-247451170 - SM-4AX82 COSM5036785 c.425G>A p.R142H Substitution - Missense 1:247451558-247451558 - TCGA-24-1846-01 COSM1320276 c.465T>C p.S155S Substitution - coding silent 1:247451518-247451518 - C0030T COSM680723 c.873C>A p.P291P Substitution - coding silent 1:247451110-247451110 - TCGA-BR-7723-01 COSM4030549 c.468C>A p.G156G Substitution - coding silent 1:247451515-247451515 - LIM2099 COSM4641033 c.925C>A p.L309M Substitution - Missense 1:247451058-247451058 - TCGA-EE-A29B-06 COSM3486637 c.657T>C p.L219L Substitution - coding silent 1:247451326-247451326 - CSCC-27-T COSM4506546 c.723C>T p.A241A Substitution - coding silent 1:247451260-247451260 - TCGA-P5-A5EW-01 COSM300194 c.520G>A p.G174R Substitution - Missense 1:247451463-247451463 - TCGA-FW-A3R5-06 COSM3865054 c.483C>T p.F161F Substitution - coding silent 1:247451500-247451500 - TCGA-A2-A0SY-01 COSM425868 c.598G>A p.D200N Substitution - Missense 1:247451385-247451385 - TCGA-33-4566-01 COSM533833 c.132G>T p.L44F Substitution - Missense 1:247451851-247451851 - C086 COSM5536078 c.760C>T p.L254F Substitution - Missense 1:247451223-247451223 - TCGA-CG-4455-01 COSM4030547 c.929C>T p.A310V Substitution - Missense 1:247451054-247451054 - TCGA-G4-6588-01 COSM1218584 c.310C>T p.Q104* Substitution - Nonsense 1:247451673-247451673 - TCGA-39-5031-01 COSM680713 c.29G>T p.G10V Substitution - Missense 1:247451954-247451954 - PCSI_0521_Pa_P_526 COSM5761805 c.484G>A p.V162M Substitution - Missense 1:247451499-247451499 - TCGA-DA-A3F8-06 COSM1690090 c.366G>A p.M122I Substitution - Missense 1:247451617-247451617 - RC-5 COSM328601 c.732G>A p.T244T Substitution - coding silent 1:247451251-247451251 - Au2 COSM5600110 c.186C>T p.P62P Substitution - coding silent 1:247451797-247451797 - 35M COSM5581961 c.169C>T p.P57S Substitution - Missense 1:247451814-247451814 - 587298 COSM1218585 c.268G>C p.G90R Substitution - Missense 1:247451715-247451715 - CSCC-29-T COSM533839 c.630C>T p.F210F Substitution - coding silent 1:247451353-247451353 - HCC148T COSM3705715 c.420G>T p.M140I Substitution - Missense 1:247451563-247451563 - CSCC-62-T COSM2232040 c.472G>A p.G158S Substitution - Missense 1:247451511-247451511 - 587284 COSM1218584 c.310C>T p.Q104* Substitution - Nonsense 1:247451673-247451673 - 53M COSM5595033 c.77G>A p.W26* Substitution - Nonsense 1:247451906-247451906 - TCGA-EE-A2MR-06 COSM3865053 c.530T>G p.V177G Substitution - Missense 1:247451453-247451453 - 388 COSM97904 c.382G>A p.V128M Substitution - Missense 1:247451601-247451601 - TCGA-34-5929-01 COSM680719 c.400C>T p.L134L Substitution - coding silent 1:247451583-247451583 - TCGA-EE-A29D-06 COSM3486639 c.480C>T p.S160S Substitution - coding silent 1:247451503-247451503 - TCGA-ER-A19A-06 COSM3486634 c.838C>T p.L280F Substitution - Missense 1:247451145-247451145 - TCGA-ER-A19F-06 COSM3486636 c.660C>T p.L220L Substitution - coding silent 1:247451323-247451323 - DLD1 COSM4622627 c.705C>T p.S235S Substitution - coding silent 1:247451278-247451278 - TCGA-CM-5861-01 COSM1340977 c.4A>G p.K2E Substitution - Missense 1:247451979-247451979 - LUAD-CHTN-MAD06-00668 COSM358372 c.166G>T p.D56Y Substitution - Missense 1:247451817-247451817 - LUAD-RT-S01702 COSM307510 c.754G>A p.V252I Substitution - Missense 1:247451229-247451229 - TCGA-A6-6780-01 COSM1340975 c.800delC p.P267fs*18 Deletion - Frameshift 1:247451183-247451183 - TCGA-EE-A183-06 COSM210683 c.713G>A p.R238Q Substitution - Missense 1:247451270-247451270 - ESO-859 COSM1239680 c.240G>A p.T80T Substitution - coding silent 1:247451743-247451743 - S02219 COSM5675529 c.247C>A p.P83T Substitution - Missense 1:247451736-247451736 - LUAD-NYU508 COSM374754 c.707A>T p.K236M Substitution - Missense 1:247451276-247451276 - CSCC-17-T COSM4511097 c.857C>T p.T286I Substitution - Missense 1:247451126-247451126 - U343 COSM5713051 c.23delT p.F8fs*2 Deletion - Frameshift 1:247451960-247451960 - LUAD-RT-S01813 COSM383013 c.782A>T p.Y261F Substitution - Missense 1:247451201-247451201 - 587278 COSM1218583 c.376C>T p.R126C Substitution - Missense 1:247451607-247451607 - Au8 COSM907007 c.519C>T p.C173C Substitution - coding silent 1:247451464-247451464 - B89-4 COSM1748289 c.730A>C p.T244P Substitution - Missense 1:247451253-247451253 - PR-06-1999 COSM246222 c.712C>T p.R238* Substitution - Nonsense 1:247451271-247451271 - LIM2405 COSM4641722 c.921A>T p.R307S Substitution - Missense 1:247451062-247451062 - RC-6 COSM328601 c.732G>A p.T244T Substitution - coding silent 1:247451251-247451251 - TCGA-A6-5660-01 COSM907008 c.500C>T p.T167M Substitution - Missense 1:247451483-247451483 - 58 COSM4945225 c.469T>C p.F157L Substitution - Missense 1:247451514-247451514 - RC-7 COSM328601 c.732G>A p.T244T Substitution - coding silent 1:247451251-247451251 - HCA7 COSM4629946 c.352G>A p.V118I Substitution - Missense 1:247451631-247451631 - A3 COSM5350089 c.372G>T p.L124L Substitution - coding silent 1:247451611-247451611 - 526LT COSM4382732 c.776C>T p.A259V Substitution - Missense 1:247451207-247451207 - PCSI_0090_Pa_X COSM3377090 c.361G>A p.A121T Substitution - Missense 1:247451622-247451622 - TCGA-B5-A0JY-01 COSM907012 c.195C>A p.I65I Substitution - coding silent 1:247451788-247451788 - TCGA-EE-A3J7-06 COSM3865055 c.335G>A p.G112E Substitution - Missense 1:247451648-247451648 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.446999 1q44

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.W110Gfs*57 c.328delT 1 247614957 LUSC A G Synonymous p.L219L c.657T>C 1 247614628 CM A T Missense p.M1K c.2T>A 1 247615283 PRAD A T Missense p.V168E c.503T>A 1 247614782 STAD A T Synonymous p.I260I c.780T>A 1 247614505 OV C A Missense p.G10V c.29G>T 1 247615256 LUSC C A Missense p.G174V c.521G>T 1 247614764 LUSC C A Missense p.K94N c.282G>T 1 247615003 LUAD C A Missense p.M63I c.189G>T 1 247615096 LUAD C A Missense p.Q274H c.822G>T 1 247614463 LUAD C A Missense p.R231S c.693G>T 1 247614592 LUAD C A Missense p.V107F c.319G>T 1 247614966 LUAD C A Missense p.W313L c.938G>T 1 247614347 LUAD C A Synonymous p.V185V c.555G>T 1 247614730 LUAD C G Missense p.D125H c.373G>C 1 247614912 LUSC C G Missense p.V205L c.613G>C 1 247614672 LUSC C T Missense p.A197T c.589G>A 1 247614696 GBM C T Missense p.A48T c.142G>A 1 247615143 LUAD C T Missense p.C113Y c.338G>A 1 247614947 UCEC C T Missense p.D200N c.598G>A 1 247614687 BRCA C T Missense p.G112E c.335G>A 1 247614950 CM C T Missense p.G174R c.520G>A 1 247614765 COREAD C T Missense p.G243R c.727G>A 1 247614558 CM C T Missense p.M122I c.366G>A 1 247614919 CM C T Missense p.M301I c.903G>A 1 247614382 CM C T Missense p.R238Q c.713G>A 1 247614572 CM C T Missense p.R238Q c.713G>A 1 247614572 COREAD C T Missense p.V207M c.619G>A 1 247614666 CM C T Missense p.V82I c.244G>A 1 247615041 CM C T Synonymous p.L215L c.645G>A 1 247614640 CM C T Synonymous p.Q93Q c.279G>A 1 247615006 CM C T Synonymous p.R311R c.933G>A 1 247614352 CM C T Synonymous p.R311R c.933G>A 1 247614352 LUSC C T Synonymous p.S192S c.576G>A 1 247614709 BLCA C T Synonymous p.V164V c.492G>A 1 247614793 CM G A Missense p.A143V c.428C>T 1 247614857 STAD G A Missense p.L280F c.838C>T 1 247614447 CM G A Missense p.P267S c.799C>T 1 247614486 COREAD G A Missense p.P30S c.88C>T 1 247615197 CM G A Missense p.R175W c.523C>T 1 247614762 UCEC G A Missense p.T201I c.602C>T 1 247614683 CM G A Nonsense p.Q233* c.697C>T 1 247614588 CM G A Nonsense p.R238* c.712C>T 1 247614573 BRCA G A Nonsense p.R238* c.712C>T 1 247614573 UCEC G A Synonymous p.A226A c.678C>T 1 247614607 CM G A Synonymous p.C173C c.519C>T 1 247614766 BRCA G A Synonymous p.F108F c.324C>T 1 247614961 CM G A Synonymous p.F157F c.471C>T 1 247614814 CM G A Synonymous p.F161F c.483C>T 1 247614802 CM G A Synonymous p.F210F c.630C>T 1 247614655 CM G A Synonymous p.F210F c.630C>T 1 247614655 LUAD G A Synonymous p.F292F c.876C>T 1 247614409 CM G A Synonymous p.F66F c.198C>T 1 247615087 CM G A Synonymous p.I251I c.753C>T 1 247614532 RCCC G A Synonymous p.L134L c.400C>T 1 247614885 LUSC G A Synonymous p.L217L c.651C>T 1 247614634 HNSC G A Synonymous p.L220L c.660C>T 1 247614625 CM G A Synonymous p.S271S c.813C>T 1 247614472 CM G C Missense p.I17M c.51C>G 1 247615234 UCEC G C Missense p.L124V c.370C>G 1 247614915 LUAD G C Synonymous p.P214P c.642C>G 1 247614643 LUSC G - Frameshift p.L9*fs*1 c.24delC 1 247615261 OV G T Missense p.L124M c.370C>A 1 247614915 LUSC G T Missense p.P13H c.38C>A 1 247615247 HNSC G T Missense p.P62H c.185C>A 1 247615100 LUSC G T Missense p.S12Y c.35C>A 1 247615250 SCLC G T Missense p.S71Y c.212C>A 1 247615073 LUAD G T Synonymous p.P291P c.873C>A 1 247614412 PRAD G T Synonymous p.P62P c.186C>A 1 247615099 LUSC G T Synonymous p.R175R c.523C>A 1 247614762 COREAD T A Synonymous p.L257L c.771A>T 1 247614514 LUAD T C Missense p.K240E c.718A>G 1 247614567 SCLC T C Missense p.K276E c.826A>G 1 247614459 SCLC T G Missense p.S61R c.181A>C 1 247615104 CM