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 19 45281452 45281452 + Missense_Mutation SNP G G T TCGA-OR-A5JB-01A-11D-A29I-10 TCGA-OR-A5JB-10A-01D-A29L-10 g.chr19:45281452G>T c.264G>T c.(262-264)gaG>gaT p.E88D BLCA 19 45281355 45281355 + Missense_Mutation SNP G G C TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chr19:45281355G>C c.167G>C c.(166-168)cGa>cCa p.R56P BLCA 19 45284558 45284558 + Missense_Mutation SNP G G A TCGA-FD-A43P-01A-31D-A23U-08 TCGA-FD-A43P-10A-01D-A23U-08 g.chr19:45284558G>A c.595G>A c.(595-597)Gac>Aac p.D199N BLCA 19 45285644 45285644 + Silent SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 g.chr19:45285644C>G c.675C>G c.(673-675)ctC>ctG p.L225L BLCA 19 45285711 45285711 + Missense_Mutation SNP C C G TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 g.chr19:45285711C>G c.742C>G c.(742-744)Caa>Gaa p.Q248E BLCA 19 45287647 45287647 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr19:45287647G>A c.906G>A c.(904-906)caG>caA p.Q302Q BLCA 19 45296769 45296769 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 g.chr19:45296769G>A c.1176G>A c.(1174-1176)gaG>gaA p.E392E BRCA 19 45284307 45284307 + Splice_Site SNP C C G TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 g.chr19:45284307C>G c.499C>G c.(499-501)Cgg>Ggg p.R167G BRCA 19 45284602 45284602 + Frame_Shift_Del DEL C C - TCGA-A8-A06X-01A-21W-A019-09 TCGA-A8-A06X-10A-01W-A021-09 g.chr19:45284602delC c.639delC c.(637-639)gtcfs p.V213fs BRCA 19 45284606 45284606 + Missense_Mutation SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr19:45284606A>C c.643A>C c.(643-645)Acc>Ccc p.T215P BRCA 19 45285673 45285673 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 g.chr19:45285673A>C c.704A>C c.(703-705)cAc>cCc p.H235P BRCA 19 45285709 45285709 + Missense_Mutation SNP T T C TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr19:45285709T>C c.740T>C c.(739-741)gTc>gCc p.V247A BRCA 19 45287592 45287593 + Frame_Shift_Del DEL TC TC - TCGA-A8-A09C-01A-11W-A019-09 TCGA-A8-A09C-10A-01W-A021-09 g.chr19:45287592_45287593delTC c.851_852delTC c.(850-852)atcfs p.I284fs BRCA 19 45297490 45297490 + Silent SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr19:45297490A>C c.1314A>C c.(1312-1314)ccA>ccC p.P438P BRCA 19 45303662 45303662 + Missense_Mutation SNP C C G TCGA-AR-A1AY-01A-21D-A12Q-09 TCGA-AR-A1AY-10A-01D-A12Q-09 g.chr19:45303662C>G c.1387C>G c.(1387-1389)Cca>Gca p.P463A CESC 19 45281228 45281228 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 g.chr19:45281228G>A c.40G>A c.(40-42)Gag>Aag p.E14K CESC 19 45295700 45295700 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr19:45295700G>A c.1066G>A c.(1066-1068)Gag>Aag p.E356K CESC 19 45295767 45295767 + Nonsense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 g.chr19:45295767G>A c.1133G>A c.(1132-1134)tGg>tAg p.W378* COAD 19 45285675 45285675 + Missense_Mutation SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr19:45285675C>T c.706C>T c.(706-708)Cca>Tca p.P236S COAD 19 45296846 45296847 + Frame_Shift_Ins INS - - C TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr19:45296846_45296847insC c.1253_1254insC c.(1252-1257)gaccagfs p.Q419fs COAD 19 45297471 45297471 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr19:45297471C>T c.1295C>T c.(1294-1296)tCg>tTg p.S432L COADREAD 19 45285675 45285675 + Missense_Mutation SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr19:45285675C>T c.706C>T c.(706-708)Cca>Tca p.P236S COADREAD 19 45296846 45296847 + Frame_Shift_Ins INS - - C TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr19:45296846_45296847insC c.1253_1254insC c.(1252-1257)gaccagfs p.Q419fs COADREAD 19 45297471 45297471 + Missense_Mutation SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr19:45297471C>T c.1295C>T c.(1294-1296)tCg>tTg p.S432L DLBC 19 45281375 45281375 + Missense_Mutation SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr19:45281375C>T c.187C>T c.(187-189)Cgg>Tgg p.R63W DLBC 19 45284495 45284495 + Missense_Mutation SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr19:45284495C>T c.532C>T c.(532-534)Ctc>Ttc p.L178F DLBC 19 45285734 45285734 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr19:45285734G>A c.765G>A c.(763-765)agG>agA p.R255R ESCA 19 45295697 45295697 + Missense_Mutation SNP G G A TCGA-VR-A8ET-01A-11D-A403-09 TCGA-VR-A8ET-10B-01D-A403-09 g.chr19:45295697G>A c.1063G>A c.(1063-1065)Gct>Act p.A355T ESCA 19 45295733 45295733 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr19:45295733G>A c.1099G>A c.(1099-1101)Ggg>Agg p.G367R ESCA 19 45296802 45296802 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 g.chr19:45296802G>T c.1209G>T c.(1207-1209)caG>caT p.Q403H GBMLGG 19 45281321 45281321 + Missense_Mutation SNP C C T TCGA-HT-7875-01A-11D-2395-08 TCGA-HT-7875-10A-01D-2396-08 g.chr19:45281321C>T c.133C>T c.(133-135)Cgg>Tgg p.R45W GBMLGG 19 45284225 45284225 + Silent SNP C C T TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 g.chr19:45284225C>T c.417C>T c.(415-417)ttC>ttT p.F139F GBMLGG 19 45296783 45296783 + Missense_Mutation SNP A A T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:45296783A>T c.1190A>T c.(1189-1191)gAg>gTg p.E397V HNSC 19 45281403 45281403 + Missense_Mutation SNP G G T TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr19:45281403G>T c.215G>T c.(214-216)gGt>gTt p.G72V HNSC 19 45296736 45296736 + Silent SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 g.chr19:45296736G>A c.1143G>A c.(1141-1143)tcG>tcA p.S381S KIPAN 19 45281521 45281521 + Missense_Mutation SNP C C G TCGA-B9-A69E-01A-11D-A31X-10 TCGA-B9-A69E-10A-01D-A31X-10 g.chr19:45281521C>G c.333C>G c.(331-333)ttC>ttG p.F111L KIRP 19 45281521 45281521 + Missense_Mutation SNP C C G TCGA-B9-A69E-01A-11D-A31X-10 TCGA-B9-A69E-10A-01D-A31X-10 g.chr19:45281521C>G c.333C>G c.(331-333)ttC>ttG p.F111L LGG 19 45281321 45281321 + Missense_Mutation SNP C C T TCGA-HT-7875-01A-11D-2395-08 TCGA-HT-7875-10A-01D-2396-08 g.chr19:45281321C>T c.133C>T c.(133-135)Cgg>Tgg p.R45W LGG 19 45284225 45284225 + Silent SNP C C T TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 g.chr19:45284225C>T c.417C>T c.(415-417)ttC>ttT p.F139F LGG 19 45296783 45296783 + Missense_Mutation SNP A A T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:45296783A>T c.1190A>T c.(1189-1191)gAg>gTg p.E397V LIHC 19 45285709 45285709 + Missense_Mutation SNP T T C TCGA-DD-A3A1-01A-11D-A20W-10 TCGA-DD-A3A1-11A-11D-A20W-10 g.chr19:45285709T>C c.740T>C c.(739-741)gTc>gCc p.V247A LIHC 19 45303670 45303670 + Silent SNP G G T TCGA-DD-AACL-01A-11D-A40R-10 TCGA-DD-AACL-10A-01D-A40U-10 g.chr19:45303670G>T c.1395G>T c.(1393-1395)gcG>gcT p.A465A LUAD 19 45303666 45303666 + Missense_Mutation SNP C C G TCGA-35-5375-01A-01D-1625-08 TCGA-35-5375-10A-01D-1625-08 g.chr19:45303666C>G c.1391C>G c.(1390-1392)gCt>gGt p.A464G LUSC 19 45284515 45284515 + Silent SNP T T C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 g.chr19:45284515T>C c.552T>C c.(550-552)ccT>ccC p.P184P OV 19 45296791 45296791 + Frame_Shift_Del DEL A A - TCGA-13-0804-01A-01W-0372-09 TCGA-13-0804-10A-01W-0372-09 g.chr19:45296791delA c.1198delA c.(1198-1200)agtfs p.S400fs OV 19 45297507 45297507 + Missense_Mutation SNP C C T TCGA-24-1557-01A-01W-0615-10 TCGA-24-1557-10A-01W-0615-10 g.chr19:45297507C>T c.1331C>T c.(1330-1332)cCc>cTc p.P444L PAAD 19 45284309 45284309 + Splice_Site SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 g.chr19:45284309G>A c.e2+1 PAAD 19 45287578 45287578 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:45287578C>T c.837C>T c.(835-837)agC>agT p.S279S PRAD 19 45284308 45284308 + Splice_Site SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr19:45284308G>A c.500G>A c.(499-501)cGg>cAg p.R167Q SARC 19 45285744 45285744 + Missense_Mutation SNP G G T TCGA-RN-AAAQ-01A-21D-A38Z-09 TCGA-RN-AAAQ-10A-01D-A38Z-09 g.chr19:45285744G>T c.775G>T c.(775-777)Ggc>Tgc p.G259C SKCM 19 45281205 45281205 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:45281205C>T c.17C>T c.(16-18)gCc>gTc p.A6V SKCM 19 45281206 45281206 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:45281206C>T c.18C>T c.(16-18)gcC>gcT p.A6A SKCM 19 45281316 45281316 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr19:45281316C>T c.128C>T c.(127-129)tCg>tTg p.S43L SKCM 19 45281354 45281354 + Nonsense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr19:45281354C>T c.166C>T c.(166-168)Cga>Tga p.R56* SKCM 19 45281402 45281402 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:45281402G>A c.214G>A c.(214-216)Ggt>Agt p.G72S SKCM 19 45281419 45281419 + Silent SNP G G A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr19:45281419G>A c.231G>A c.(229-231)ggG>ggA p.G77G SKCM 19 45281486 45281486 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr19:45281486C>T c.298C>T c.(298-300)Ccc>Tcc p.P100S SKCM 19 45281499 45281499 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr19:45281499G>A c.311G>A c.(310-312)aGg>aAg p.R104K SKCM 19 45281499 45281499 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr19:45281499G>A c.311G>A c.(310-312)aGg>aAg p.R104K SKCM 19 45281500 45281500 + Missense_Mutation SNP G G T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr19:45281500G>T c.312G>T c.(310-312)agG>agT p.R104S SKCM 19 45284184 45284184 + Missense_Mutation SNP A A C TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr19:45284184A>C c.376A>C c.(376-378)Atc>Ctc p.I126L SKCM 19 45284519 45284519 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr19:45284519G>A c.556G>A c.(556-558)Gaa>Aaa p.E186K SKCM 19 45284519 45284519 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:45284519G>A c.556G>A c.(556-558)Gaa>Aaa p.E186K SKCM 19 45284534 45284534 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr19:45284534G>A c.571G>A c.(571-573)Gcc>Acc p.A191T SKCM 19 45284584 45284584 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:45284584C>T c.621C>T c.(619-621)tcC>tcT p.S207S SKCM 19 45284596 45284596 + Silent SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 g.chr19:45284596C>T c.633C>T c.(631-633)ttC>ttT p.F211F SKCM 19 45284596 45284596 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 g.chr19:45284596C>T c.633C>T c.(631-633)ttC>ttT p.F211F SKCM 19 45285647 45285647 + Silent SNP G G A TCGA-ER-A19J-06A-11D-A196-08 TCGA-ER-A19J-10A-01D-A198-08 g.chr19:45285647G>A c.678G>A c.(676-678)aaG>aaA p.K226K SKCM 19 45285708 45285708 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr19:45285708G>A c.739G>A c.(739-741)Gtc>Atc p.V247I SKCM 19 45293285 45293285 + Silent SNP C C T TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 g.chr19:45293285C>T c.942C>T c.(940-942)acC>acT p.T314T SKCM 19 45295716 45295716 + Missense_Mutation SNP T T C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr19:45295716T>C c.1082T>C c.(1081-1083)gTg>gCg p.V361A SKCM 19 45297465 45297465 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:45297465C>T c.1289C>T c.(1288-1290)cCc>cTc p.P430L SKCM 19 45297477 45297477 + Missense_Mutation SNP C C T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 g.chr19:45297477C>T c.1301C>T c.(1300-1302)cCt>cTt p.P434L SKCM 19 45297532 45297532 + Silent SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr19:45297532G>A c.1356G>A c.(1354-1356)ccG>ccA p.P452P SKCM 19 45303658 45303658 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr19:45303658C>T c.1383C>T c.(1381-1383)tcC>tcT p.S461S SKCM 19 45303658 45303658 + Silent SNP C C T TCGA-ER-A1A1-06A-11D-A197-08 TCGA-ER-A1A1-10A-01D-A199-08 g.chr19:45303658C>T c.1383C>T c.(1381-1383)tcC>tcT p.S461S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 19 45285644 45285644 single base substitution C G synonymous_variant L225L 675C>G BLCA-US 19 45287647 45287647 single base substitution G A intron_variant BLCA-US 19 45287647 45287647 single base substitution G A synonymous_variant Q302Q 906G>A BLCA-US 19 45296769 45296769 single base substitution G A synonymous_variant E346E 1038G>A BLCA-US 19 45296769 45296769 single base substitution G A synonymous_variant E392E 1176G>A BOCA-FR 19 45284121 45284121 single base substitution G A intron_variant BRCA-EU 19 45276879 45276879 single base substitution C T upstream_gene_variant BRCA-EU 19 45277086 45277086 single base substitution G T upstream_gene_variant BRCA-EU 19 45277624 45277624 single base substitution G T upstream_gene_variant BRCA-EU 19 45277982 45277982 single base substitution T A upstream_gene_variant BRCA-EU 19 45278095 45278095 single base substitution G A upstream_gene_variant BRCA-EU 19 45278939 45278939 single base substitution C G upstream_gene_variant BRCA-EU 19 45278964 45278964 single base substitution C T upstream_gene_variant BRCA-EU 19 45278993 45278993 single base substitution G A upstream_gene_variant BRCA-EU 19 45279854 45279854 single base substitution T A upstream_gene_variant BRCA-EU 19 45279879 45279879 single base substitution C T upstream_gene_variant BRCA-EU 19 45280345 45280345 single base substitution G A upstream_gene_variant BRCA-EU 19 45282205 45282205 single base substitution G A intron_variant BRCA-EU 19 45282387 45282387 single base substitution T G intron_variant BRCA-EU 19 45283004 45283007 deletion of <=200bp CTTG - intron_variant BRCA-EU 19 45283370 45283370 single base substitution C T intron_variant BRCA-EU 19 45283610 45283610 single base substitution C T intron_variant BRCA-EU 19 45284752 45284752 single base substitution G A intron_variant BRCA-EU 19 45284826 45284826 single base substitution G A intron_variant BRCA-EU 19 45284980 45284980 single base substitution C T intron_variant BRCA-EU 19 45285017 45285017 single base substitution T C intron_variant BRCA-EU 19 45288035 45288035 single base substitution C G intron_variant BRCA-EU 19 45288895 45288895 deletion of <=200bp T - intron_variant BRCA-EU 19 45291194 45291194 single base substitution C T intron_variant BRCA-EU 19 45291993 45291993 single base substitution C G intron_variant BRCA-EU 19 45292334 45292334 single base substitution A G intron_variant BRCA-EU 19 45293624 45293624 single base substitution C G intron_variant BRCA-EU 19 45295376 45295376 single base substitution G C intron_variant BRCA-EU 19 45297286 45297286 single base substitution G A intron_variant BRCA-EU 19 45298399 45298399 single base substitution G C intron_variant BRCA-EU 19 45299980 45299980 single base substitution C T intron_variant BRCA-EU 19 45300382 45300382 single base substitution C T intron_variant BRCA-EU 19 45302154 45302154 insertion of <=200bp - CC intron_variant BRCA-EU 19 45303400 45303400 single base substitution G C intron_variant BRCA-EU 19 45304223 45304223 single base substitution C G downstream_gene_variant BRCA-EU 19 45304991 45304991 single base substitution C T downstream_gene_variant BRCA-EU 19 45305814 45305814 single base substitution G C downstream_gene_variant BRCA-EU 19 45306911 45306911 single base substitution A G downstream_gene_variant BRCA-EU 19 45306938 45306938 single base substitution A G downstream_gene_variant BRCA-EU 19 45306939 45306939 single base substitution G A downstream_gene_variant BRCA-FR 19 45300258 45300258 single base substitution C T intron_variant BRCA-FR 19 45300292 45300292 single base substitution A G intron_variant BRCA-FR 19 45302003 45302003 single base substitution G A intron_variant BRCA-UK 19 45297038 45297038 single base substitution G T intron_variant BRCA-US 19 45284602 45284602 deletion of <=200bp C - frameshift_variant V213 BRCA-US 19 45284606 45284606 single base substitution A C missense_variant T215P 643A>C BRCA-US 19 45285673 45285673 single base substitution A C missense_variant H235P 704A>C BRCA-US 19 45285709 45285709 single base substitution T C missense_variant V247A 740T>C BRCA-US 19 45287592 45287593 deletion of <=200bp TC - frameshift_variant I284 BRCA-US 19 45287592 45287593 deletion of <=200bp TC - intron_variant BRCA-US 19 45297490 45297490 single base substitution A C synonymous_variant P392P 1176A>C BRCA-US 19 45297490 45297490 single base substitution A C synonymous_variant P438P 1314A>C BRCA-US 19 45303662 45303662 single base substitution C G missense_variant P417A 1249C>G BRCA-US 19 45303662 45303662 single base substitution C G missense_variant P463A 1387C>G BTCA-JP 19 45284579 45284579 single base substitution G A missense_variant V206M 616G>A BTCA-JP 19 45287501 45287501 single base substitution C A intron_variant BTCA-JP 19 45295862 45295862 single base substitution T C intron_variant CESC-US 19 45281228 45281228 single base substitution G A missense_variant E14K 40G>A CESC-US 19 45295700 45295700 single base substitution G A missense_variant E310K 928G>A CESC-US 19 45295700 45295700 single base substitution G A missense_variant E356K 1066G>A CESC-US 19 45295767 45295767 single base substitution G A stop_gained W332* 995G>A CESC-US 19 45295767 45295767 single base substitution G A stop_gained W378* 1133G>A CLLE-ES 19 45293769 45293769 single base substitution T A intron_variant COAD-US 19 45281375 45281375 single base substitution C T missense_variant R63W 187C>T COAD-US 19 45284266 45284266 single base substitution A C missense_variant K153T 458A>C COAD-US 19 45285675 45285675 single base substitution C T missense_variant P236S 706C>T COAD-US 19 45297471 45297471 single base substitution C T missense_variant S386L 1157C>T COAD-US 19 45297471 45297471 single base substitution C T missense_variant S432L 1295C>T EOPC-DE 19 45281610 45281610 single base substitution C T intron_variant EOPC-DE 19 45284730 45284730 single base substitution A G intron_variant EOPC-DE 19 45288689 45288689 single base substitution T C intron_variant ESAD-UK 19 45276348 45276348 single base substitution G T upstream_gene_variant ESAD-UK 19 45276570 45276570 single base substitution G C upstream_gene_variant ESAD-UK 19 45276599 45276599 single base substitution G C upstream_gene_variant ESAD-UK 19 45277461 45277461 single base substitution T A upstream_gene_variant ESAD-UK 19 45277602 45277602 single base substitution C T upstream_gene_variant ESAD-UK 19 45282213 45282213 single base substitution G A intron_variant ESAD-UK 19 45285542 45285542 single base substitution G A intron_variant ESAD-UK 19 45286723 45286723 single base substitution G A intron_variant ESAD-UK 19 45287279 45287279 single base substitution C T intron_variant ESAD-UK 19 45287577 45287577 single base substitution G A intron_variant ESAD-UK 19 45287577 45287577 single base substitution G A missense_variant S279N 836G>A ESAD-UK 19 45288702 45288702 single base substitution G T intron_variant ESAD-UK 19 45288877 45288877 single base substitution T G intron_variant ESAD-UK 19 45289471 45289471 single base substitution C T intron_variant ESAD-UK 19 45294064 45294064 single base substitution G A intron_variant ESAD-UK 19 45299340 45299340 single base substitution C T intron_variant ESAD-UK 19 45299569 45299570 deletion of <=200bp AA - intron_variant ESAD-UK 19 45300129 45300129 single base substitution G C intron_variant ESAD-UK 19 45300885 45300885 single base substitution A G intron_variant ESAD-UK 19 45303499 45303499 single base substitution T A intron_variant ESAD-UK 19 45305482 45305482 single base substitution C G downstream_gene_variant ESAD-UK 19 45307522 45307522 single base substitution T C downstream_gene_variant ESAD-UK 19 45308249 45308249 single base substitution G A downstream_gene_variant ESAD-UK 19 45308400 45308400 insertion of <=200bp - T downstream_gene_variant KIRC-US 19 45284600 45284600 single base substitution G C missense_variant V213L 637G>C KIRP-US 19 45281521 45281521 single base substitution C G missense_variant F111L 333C>G LAML-CN 19 45287650 45287650 single base substitution G A intron_variant LAML-CN 19 45287650 45287650 single base substitution G A synonymous_variant K303K 909G>A LAML-KR 19 45284308 45284308 single base substitution G T missense_variant R167L 500G>T LAML-KR 19 45285117 45285117 single base substitution G T intron_variant LAML-KR 19 45285381 45285381 single base substitution T C intron_variant LAML-KR 19 45286446 45286446 single base substitution G A intron_variant LAML-KR 19 45287375 45287375 single base substitution T G intron_variant LAML-KR 19 45288217 45288217 single base substitution T G intron_variant LAML-KR 19 45304091 45304091 single base substitution C T downstream_gene_variant LAML-KR 19 45304115 45304115 single base substitution C G downstream_gene_variant LAML-KR 19 45304151 45304151 single base substitution C G downstream_gene_variant LAML-KR 19 45304363 45304363 single base substitution G T downstream_gene_variant LAML-KR 19 45304529 45304529 single base substitution G A downstream_gene_variant LAML-KR 19 45304880 45304880 single base substitution T C downstream_gene_variant LAML-KR 19 45305063 45305063 single base substitution T C downstream_gene_variant LGG-US 19 45281321 45281321 single base substitution C T missense_variant R45W 133C>T LGG-US 19 45284225 45284225 single base substitution C T synonymous_variant F139F 417C>T LICA-CN 19 45303681 45303681 single base substitution A T missense_variant Q423L 1268A>T LICA-CN 19 45303681 45303681 single base substitution A T missense_variant Q469L 1406A>T LICA-FR 19 45279683 45279683 deletion of <=200bp A - upstream_gene_variant LICA-FR 19 45284540 45284540 single base substitution G A missense_variant A193T 577G>A LICA-FR 19 45287640 45287640 single base substitution A G intron_variant LICA-FR 19 45287640 45287640 single base substitution A G missense_variant E300G 899A>G LICA-FR 19 45290924 45290924 single base substitution A G intron_variant LICA-FR 19 45294990 45294990 deletion of <=200bp A - intron_variant LICA-FR 19 45304199 45304199 single base substitution T C downstream_gene_variant LICA-FR 19 45305076 45305076 single base substitution T G downstream_gene_variant LICA-FR 19 45306830 45306830 deletion of <=200bp A - downstream_gene_variant LINC-JP 19 45284967 45284967 single base substitution C A intron_variant LINC-JP 19 45287691 45287691 single base substitution A G intron_variant LINC-JP 19 45290545 45290545 single base substitution G A intron_variant LINC-JP 19 45295461 45295461 single base substitution G A intron_variant LINC-JP 19 45297164 45297164 single base substitution C T intron_variant LINC-JP 19 45307159 45307159 single base substitution C T downstream_gene_variant LIRI-JP 19 45276422 45276422 single base substitution T G upstream_gene_variant LIRI-JP 19 45277183 45277183 single base substitution T C upstream_gene_variant LIRI-JP 19 45277652 45277652 single base substitution G A upstream_gene_variant LIRI-JP 19 45277915 45277915 single base substitution A T upstream_gene_variant LIRI-JP 19 45279976 45279976 single base substitution C T upstream_gene_variant LIRI-JP 19 45282709 45282709 single base substitution T G intron_variant LIRI-JP 19 45285693 45285693 single base substitution C A missense_variant L242I 724C>A LIRI-JP 19 45286070 45286070 single base substitution T C intron_variant LIRI-JP 19 45288727 45288727 single base substitution A G intron_variant LIRI-JP 19 45291970 45291970 single base substitution G T intron_variant LIRI-JP 19 45298357 45298357 single base substitution G T intron_variant LIRI-JP 19 45298417 45298417 single base substitution A G intron_variant LIRI-JP 19 45305764 45305764 single base substitution G T downstream_gene_variant LIRI-JP 19 45307111 45307111 single base substitution A C downstream_gene_variant LIRI-JP 19 45307939 45307939 single base substitution A G downstream_gene_variant LUSC-KR 19 45282133 45282133 single base substitution A C intron_variant LUSC-KR 19 45282716 45282716 single base substitution G C intron_variant LUSC-KR 19 45283897 45283897 single base substitution T G intron_variant LUSC-KR 19 45284928 45284928 single base substitution A G intron_variant LUSC-KR 19 45285381 45285381 single base substitution T C intron_variant LUSC-KR 19 45286734 45286734 single base substitution C T intron_variant LUSC-KR 19 45288217 45288217 single base substitution T G intron_variant LUSC-KR 19 45288223 45288223 single base substitution T G intron_variant LUSC-KR 19 45288557 45288557 single base substitution G C intron_variant LUSC-KR 19 45294448 45294448 single base substitution A G intron_variant LUSC-KR 19 45297684 45297684 single base substitution C G intron_variant LUSC-KR 19 45298825 45298825 single base substitution G A intron_variant LUSC-KR 19 45299881 45299881 single base substitution A G intron_variant LUSC-KR 19 45300181 45300181 single base substitution G T intron_variant LUSC-KR 19 45301974 45301974 single base substitution C T intron_variant LUSC-KR 19 45304028 45304028 single base substitution T C downstream_gene_variant LUSC-KR 19 45304115 45304115 single base substitution C G downstream_gene_variant LUSC-KR 19 45304163 45304163 single base substitution C T downstream_gene_variant LUSC-KR 19 45304439 45304439 single base substitution C G downstream_gene_variant LUSC-KR 19 45304475 45304475 single base substitution G C downstream_gene_variant LUSC-KR 19 45304529 45304529 single base substitution G A downstream_gene_variant LUSC-KR 19 45304556 45304556 single base substitution C T downstream_gene_variant LUSC-KR 19 45304631 45304631 single base substitution T C downstream_gene_variant LUSC-KR 19 45304664 45304664 single base substitution T C downstream_gene_variant LUSC-KR 19 45304979 45304979 single base substitution C G downstream_gene_variant LUSC-KR 19 45305063 45305063 single base substitution T C downstream_gene_variant LUSC-KR 19 45305227 45305227 single base substitution A T downstream_gene_variant LUSC-KR 19 45306770 45306770 single base substitution T A downstream_gene_variant LUSC-KR 19 45306848 45306848 single base substitution G A downstream_gene_variant LUSC-KR 19 45307237 45307237 single base substitution T A downstream_gene_variant LUSC-US 19 45284515 45284515 single base substitution T C synonymous_variant P184P 552T>C MALY-DE 19 45276820 45276820 deletion of <=200bp T - upstream_gene_variant MALY-DE 19 45276829 45276829 single base substitution G T upstream_gene_variant MALY-DE 19 45279785 45279785 single base substitution G A upstream_gene_variant MALY-DE 19 45289192 45289192 insertion of <=200bp - A intron_variant MALY-DE 19 45290932 45290932 single base substitution G A intron_variant MALY-DE 19 45298783 45298783 insertion of <=200bp - A intron_variant MALY-DE 19 45307891 45307891 single base substitution C T downstream_gene_variant MELA-AU 19 45276155 45276155 single base substitution C T upstream_gene_variant MELA-AU 19 45276182 45276182 single base substitution C T upstream_gene_variant MELA-AU 19 45276286 45276286 single base substitution G A upstream_gene_variant MELA-AU 19 45276486 45276486 single base substitution C G upstream_gene_variant MELA-AU 19 45276517 45276517 single base substitution G A upstream_gene_variant MELA-AU 19 45276554 45276554 single base substitution C T upstream_gene_variant MELA-AU 19 45276705 45276705 single base substitution G A upstream_gene_variant MELA-AU 19 45276944 45276944 single base substitution G A upstream_gene_variant MELA-AU 19 45277061 45277061 single base substitution G A upstream_gene_variant MELA-AU 19 45277132 45277132 single base substitution C T upstream_gene_variant MELA-AU 19 45277154 45277154 single base substitution G A upstream_gene_variant MELA-AU 19 45277508 45277508 single base substitution G T upstream_gene_variant MELA-AU 19 45277601 45277601 single base substitution A G upstream_gene_variant MELA-AU 19 45277845 45277845 single base substitution C T upstream_gene_variant MELA-AU 19 45278357 45278357 single base substitution G A upstream_gene_variant MELA-AU 19 45278716 45278716 single base substitution C T upstream_gene_variant MELA-AU 19 45278822 45278822 single base substitution G A upstream_gene_variant MELA-AU 19 45279034 45279034 single base substitution G A upstream_gene_variant MELA-AU 19 45279271 45279271 single base substitution C T upstream_gene_variant MELA-AU 19 45279400 45279400 single base substitution G A upstream_gene_variant MELA-AU 19 45279410 45279410 single base substitution C T upstream_gene_variant MELA-AU 19 45279595 45279595 single base substitution G A upstream_gene_variant MELA-AU 19 45279696 45279696 single base substitution A G upstream_gene_variant MELA-AU 19 45279954 45279954 single base substitution C T upstream_gene_variant MELA-AU 19 45280117 45280117 single base substitution C T upstream_gene_variant MELA-AU 19 45280148 45280148 single base substitution C T upstream_gene_variant MELA-AU 19 45280209 45280209 single base substitution G A upstream_gene_variant MELA-AU 19 45280231 45280231 single base substitution C T upstream_gene_variant MELA-AU 19 45280268 45280268 single base substitution C T upstream_gene_variant MELA-AU 19 45280692 45280692 single base substitution G A upstream_gene_variant MELA-AU 19 45281143 45281143 single base substitution C T 5_prime_UTR_variant MELA-AU 19 45281224 45281224 single base substitution G A stop_gained W12* 36G>A MELA-AU 19 45281499 45281500 multiple base substitution (>=2bp and <=200bp) GG AT missense_variant R104N 311GG>AT MELA-AU 19 45282228 45282228 single base substitution C T intron_variant MELA-AU 19 45283129 45283129 single base substitution C T intron_variant MELA-AU 19 45283306 45283306 single base substitution C T intron_variant MELA-AU 19 45283440 45283440 single base substitution G A intron_variant MELA-AU 19 45283482 45283482 single base substitution C T intron_variant MELA-AU 19 45284554 45284554 single base substitution C T synonymous_variant T197T 591C>T MELA-AU 19 45284564 45284564 single base substitution A T missense_variant T201S 601A>T MELA-AU 19 45284798 45284798 single base substitution C T intron_variant MELA-AU 19 45284958 45284958 single base substitution G A intron_variant MELA-AU 19 45285031 45285031 single base substitution G A intron_variant MELA-AU 19 45285094 45285094 single base substitution C T intron_variant MELA-AU 19 45285404 45285404 single base substitution G A intron_variant MELA-AU 19 45285437 45285437 single base substitution G A intron_variant MELA-AU 19 45285877 45285877 single base substitution G C intron_variant MELA-AU 19 45286159 45286159 single base substitution C T intron_variant MELA-AU 19 45286302 45286302 single base substitution G A intron_variant MELA-AU 19 45286512 45286512 single base substitution C T intron_variant MELA-AU 19 45286660 45286660 single base substitution G A intron_variant MELA-AU 19 45286906 45286906 single base substitution C T intron_variant MELA-AU 19 45287283 45287283 single base substitution G A intron_variant MELA-AU 19 45287638 45287639 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 45287638 45287639 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant LE299LK MELA-AU 19 45287926 45287926 single base substitution G A intron_variant MELA-AU 19 45287936 45287936 single base substitution C T intron_variant MELA-AU 19 45288309 45288309 single base substitution A G intron_variant MELA-AU 19 45288615 45288615 single base substitution G A intron_variant MELA-AU 19 45288665 45288665 single base substitution G A intron_variant MELA-AU 19 45289283 45289283 single base substitution C T intron_variant MELA-AU 19 45289609 45289609 single base substitution A G intron_variant MELA-AU 19 45289645 45289645 single base substitution G A intron_variant MELA-AU 19 45289779 45289779 single base substitution G A intron_variant MELA-AU 19 45290069 45290069 single base substitution G A intron_variant MELA-AU 19 45290090 45290090 single base substitution G A intron_variant MELA-AU 19 45290296 45290296 single base substitution C T intron_variant MELA-AU 19 45290892 45290892 single base substitution G A intron_variant MELA-AU 19 45291039 45291039 single base substitution C T intron_variant MELA-AU 19 45291298 45291298 single base substitution C T intron_variant MELA-AU 19 45291499 45291499 single base substitution C T intron_variant MELA-AU 19 45291786 45291786 single base substitution G A intron_variant MELA-AU 19 45291950 45291950 single base substitution G A intron_variant MELA-AU 19 45292055 45292055 single base substitution C T intron_variant MELA-AU 19 45292320 45292320 single base substitution G A intron_variant MELA-AU 19 45292356 45292356 single base substitution G A intron_variant MELA-AU 19 45292479 45292479 single base substitution C T intron_variant MELA-AU 19 45292606 45292606 single base substitution C T intron_variant MELA-AU 19 45292754 45292754 single base substitution G A intron_variant MELA-AU 19 45292883 45292883 single base substitution G A intron_variant MELA-AU 19 45292886 45292886 single base substitution G A intron_variant MELA-AU 19 45293034 45293034 single base substitution C T intron_variant MELA-AU 19 45293052 45293052 single base substitution G A intron_variant MELA-AU 19 45293209 45293209 single base substitution G A intron_variant MELA-AU 19 45293215 45293215 single base substitution G A intron_variant MELA-AU 19 45293239 45293239 single base substitution C T intron_variant MELA-AU 19 45293546 45293546 single base substitution G A intron_variant MELA-AU 19 45293722 45293722 single base substitution C T intron_variant MELA-AU 19 45293816 45293816 single base substitution C T intron_variant MELA-AU 19 45294099 45294099 single base substitution C T intron_variant MELA-AU 19 45294250 45294250 single base substitution C T intron_variant MELA-AU 19 45295559 45295559 single base substitution G A intron_variant MELA-AU 19 45295735 45295735 single base substitution G A synonymous_variant G321G 963G>A MELA-AU 19 45295735 45295735 single base substitution G A synonymous_variant G367G 1101G>A MELA-AU 19 45295809 45295809 single base substitution C T intron_variant MELA-AU 19 45295831 45295832 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 45295837 45295837 single base substitution G A intron_variant MELA-AU 19 45295968 45295968 single base substitution T A intron_variant MELA-AU 19 45296203 45296203 single base substitution A G intron_variant MELA-AU 19 45296291 45296291 single base substitution C T intron_variant MELA-AU 19 45296292 45296292 single base substitution C T intron_variant MELA-AU 19 45296363 45296363 single base substitution C T intron_variant MELA-AU 19 45296402 45296402 single base substitution C T intron_variant MELA-AU 19 45296403 45296403 single base substitution C T intron_variant MELA-AU 19 45296469 45296469 single base substitution G A intron_variant MELA-AU 19 45296859 45296859 single base substitution G A synonymous_variant R376R 1128G>A MELA-AU 19 45296859 45296859 single base substitution G A synonymous_variant R422R 1266G>A MELA-AU 19 45297078 45297078 single base substitution G A intron_variant MELA-AU 19 45297096 45297096 single base substitution C T intron_variant MELA-AU 19 45297281 45297281 single base substitution G A intron_variant MELA-AU 19 45297342 45297342 single base substitution C T intron_variant MELA-AU 19 45297394 45297394 single base substitution G A intron_variant MELA-AU 19 45297403 45297403 single base substitution G A intron_variant MELA-AU 19 45297441 45297441 single base substitution C T intron_variant MELA-AU 19 45297510 45297510 single base substitution G A missense_variant R399K 1196G>A MELA-AU 19 45297510 45297510 single base substitution G A missense_variant R445K 1334G>A MELA-AU 19 45297511 45297511 single base substitution G A synonymous_variant R399R 1197G>A MELA-AU 19 45297511 45297511 single base substitution G A synonymous_variant R445R 1335G>A MELA-AU 19 45297708 45297708 single base substitution G A intron_variant MELA-AU 19 45297823 45297823 single base substitution G A intron_variant MELA-AU 19 45298187 45298187 single base substitution G A intron_variant MELA-AU 19 45298790 45298790 single base substitution A T intron_variant MELA-AU 19 45298843 45298843 single base substitution C T intron_variant MELA-AU 19 45298973 45298973 single base substitution C T intron_variant MELA-AU 19 45299057 45299057 single base substitution C T intron_variant MELA-AU 19 45299426 45299426 single base substitution C T intron_variant MELA-AU 19 45299463 45299463 single base substitution G A intron_variant MELA-AU 19 45299506 45299506 single base substitution C T intron_variant MELA-AU 19 45299508 45299508 single base substitution C T intron_variant MELA-AU 19 45299530 45299530 single base substitution C T intron_variant MELA-AU 19 45300000 45300000 single base substitution G A intron_variant MELA-AU 19 45300001 45300001 single base substitution G A intron_variant MELA-AU 19 45300920 45300920 single base substitution G A intron_variant MELA-AU 19 45300989 45300989 single base substitution G A intron_variant MELA-AU 19 45301107 45301107 single base substitution C T intron_variant MELA-AU 19 45301111 45301111 single base substitution C T intron_variant MELA-AU 19 45301257 45301257 single base substitution C T intron_variant MELA-AU 19 45301364 45301364 single base substitution C T intron_variant MELA-AU 19 45301411 45301411 single base substitution G A intron_variant MELA-AU 19 45301768 45301768 single base substitution C T intron_variant MELA-AU 19 45301792 45301792 single base substitution G A intron_variant MELA-AU 19 45301926 45301926 single base substitution G A intron_variant MELA-AU 19 45301937 45301937 single base substitution G A intron_variant MELA-AU 19 45302032 45302032 single base substitution C T intron_variant MELA-AU 19 45302105 45302105 single base substitution C T intron_variant MELA-AU 19 45302123 45302123 single base substitution C T intron_variant MELA-AU 19 45302135 45302135 single base substitution C T intron_variant MELA-AU 19 45302171 45302171 single base substitution A G intron_variant MELA-AU 19 45302375 45302375 single base substitution C T intron_variant MELA-AU 19 45302505 45302505 single base substitution G A intron_variant MELA-AU 19 45302628 45302629 multiple base substitution (>=2bp and <=200bp) TG GT intron_variant MELA-AU 19 45302760 45302760 single base substitution C T intron_variant MELA-AU 19 45302767 45302767 single base substitution T A intron_variant MELA-AU 19 45302837 45302838 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 45302877 45302878 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 45302998 45302998 single base substitution G A intron_variant MELA-AU 19 45303266 45303266 single base substitution C T intron_variant MELA-AU 19 45303458 45303458 single base substitution T C intron_variant MELA-AU 19 45303460 45303460 single base substitution C T intron_variant MELA-AU 19 45303545 45303545 single base substitution C T intron_variant MELA-AU 19 45303643 45303643 single base substitution C T synonymous_variant L410L 1230C>T MELA-AU 19 45303643 45303643 single base substitution C T synonymous_variant L456L 1368C>T MELA-AU 19 45303692 45303692 single base substitution C T missense_variant P427S 1279C>T MELA-AU 19 45303692 45303692 single base substitution C T missense_variant P473S 1417C>T MELA-AU 19 45304055 45304055 single base substitution C T downstream_gene_variant MELA-AU 19 45305099 45305099 single base substitution C T downstream_gene_variant MELA-AU 19 45305210 45305210 single base substitution C T downstream_gene_variant MELA-AU 19 45305717 45305717 single base substitution G A downstream_gene_variant MELA-AU 19 45305719 45305720 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 45305934 45305934 single base substitution C A downstream_gene_variant MELA-AU 19 45305986 45305986 single base substitution C T downstream_gene_variant MELA-AU 19 45306093 45306093 single base substitution G A downstream_gene_variant MELA-AU 19 45306220 45306220 single base substitution C T downstream_gene_variant MELA-AU 19 45306612 45306612 single base substitution G A downstream_gene_variant MELA-AU 19 45306617 45306617 single base substitution G A downstream_gene_variant MELA-AU 19 45306857 45306857 single base substitution G A downstream_gene_variant MELA-AU 19 45306922 45306922 single base substitution G A downstream_gene_variant MELA-AU 19 45307002 45307002 single base substitution G A downstream_gene_variant MELA-AU 19 45307353 45307353 single base substitution C T downstream_gene_variant MELA-AU 19 45307406 45307406 single base substitution G A downstream_gene_variant MELA-AU 19 45307741 45307742 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 45307808 45307808 single base substitution G A downstream_gene_variant MELA-AU 19 45308137 45308137 single base substitution G A downstream_gene_variant MELA-AU 19 45308660 45308660 single base substitution C T downstream_gene_variant MELA-AU 19 45308715 45308715 single base substitution C T downstream_gene_variant ORCA-IN 19 45281394 45281394 insertion of <=200bp - C frameshift_variant G69A? ORCA-IN 19 45288829 45288829 single base substitution A G intron_variant ORCA-IN 19 45293304 45293305 deletion of <=200bp GA - frameshift_variant E275 ORCA-IN 19 45293304 45293305 deletion of <=200bp GA - frameshift_variant E321 ORCA-IN 19 45295763 45295763 single base substitution G T missense_variant A331S 991G>T ORCA-IN 19 45295763 45295763 single base substitution G T missense_variant A377S 1129G>T ORCA-IN 19 45302694 45302694 single base substitution A G intron_variant ORCA-IN 19 45308064 45308064 single base substitution C T downstream_gene_variant OV-AU 19 45277516 45277516 single base substitution T A upstream_gene_variant OV-AU 19 45281021 45281021 single base substitution A G upstream_gene_variant OV-AU 19 45284142 45284179 deletion of <=200bp GTCCTTGCCCATCCCCACAGGCGACAGCTGGCCAAGCT - splice_acceptor_variant OV-AU 19 45285301 45285301 single base substitution G A intron_variant OV-AU 19 45287202 45287202 single base substitution C T intron_variant OV-AU 19 45295524 45295524 single base substitution A G intron_variant OV-AU 19 45301006 45301006 single base substitution C A intron_variant OV-AU 19 45301043 45301043 single base substitution G T intron_variant OV-AU 19 45307144 45307144 single base substitution A T downstream_gene_variant OV-US 19 45296791 45296791 deletion of <=200bp A - frameshift_variant S354 OV-US 19 45296791 45296791 deletion of <=200bp A - frameshift_variant S400 PACA-AU 19 45276872 45276872 single base substitution G A upstream_gene_variant PACA-AU 19 45278201 45278201 insertion of <=200bp - T upstream_gene_variant PACA-AU 19 45284864 45284864 single base substitution A G intron_variant PACA-AU 19 45285110 45285110 single base substitution A G intron_variant PACA-AU 19 45286779 45286779 single base substitution A C intron_variant PACA-AU 19 45291100 45291100 single base substitution G A intron_variant PACA-AU 19 45294851 45294851 single base substitution A G intron_variant PACA-AU 19 45299099 45299099 single base substitution C G intron_variant PACA-AU 19 45299214 45299214 single base substitution T C intron_variant PACA-AU 19 45303851 45303851 single base substitution G T 3_prime_UTR_variant PACA-AU 19 45306114 45306114 single base substitution C T downstream_gene_variant PACA-CA 19 45276829 45276829 single base substitution G T upstream_gene_variant PACA-CA 19 45278427 45278427 single base substitution T G upstream_gene_variant PACA-CA 19 45288705 45288705 deletion of <=200bp T - intron_variant PACA-CA 19 45289631 45289631 single base substitution G A intron_variant PACA-CA 19 45290227 45290227 single base substitution C A intron_variant PACA-CA 19 45302187 45302187 single base substitution C T intron_variant PACA-CA 19 45302262 45302262 single base substitution C A intron_variant PACA-CA 19 45305545 45305545 single base substitution G A downstream_gene_variant PAEN-AU 19 45288809 45288809 single base substitution A G intron_variant PAEN-AU 19 45288810 45288810 single base substitution T C intron_variant PAEN-AU 19 45305396 45305396 single base substitution G A downstream_gene_variant PBCA-DE 19 45276614 45276614 single base substitution C A upstream_gene_variant PBCA-DE 19 45276826 45276826 single base substitution T G upstream_gene_variant PBCA-DE 19 45277283 45277283 single base substitution G A upstream_gene_variant PBCA-DE 19 45277388 45277389 deletion of <=200bp TG - upstream_gene_variant PBCA-DE 19 45288790 45288793 deletion of <=200bp TAGA - intron_variant PBCA-DE 19 45289192 45289192 insertion of <=200bp - A intron_variant PBCA-DE 19 45295278 45295278 single base substitution T A intron_variant PBCA-DE 19 45298892 45298892 insertion of <=200bp - A intron_variant PBCA-DE 19 45300724 45300724 deletion of <=200bp T - intron_variant PBCA-DE 19 45307614 45307614 single base substitution G A downstream_gene_variant PBCA-DE 19 45307760 45307760 deletion of <=200bp A - downstream_gene_variant PRAD-CA 19 45304061 45304061 single base substitution G A downstream_gene_variant PRAD-CA 19 45305530 45305530 single base substitution G A downstream_gene_variant PRAD-UK 19 45276615 45276615 single base substitution A C upstream_gene_variant PRAD-UK 19 45284747 45284747 single base substitution C G intron_variant PRAD-UK 19 45285352 45285352 single base substitution A T intron_variant PRAD-UK 19 45296874 45296874 single base substitution G T synonymous_variant G381G 1143G>T PRAD-UK 19 45296874 45296874 single base substitution G T synonymous_variant G427G 1281G>T PRAD-UK 19 45303601 45303601 single base substitution G A intron_variant PRAD-UK 19 45305662 45305662 insertion of <=200bp - A downstream_gene_variant PRAD-UK 19 45308080 45308080 single base substitution G C downstream_gene_variant READ-US 19 45281297 45281297 single base substitution C T synonymous_variant L37L 109C>T RECA-EU 19 45279521 45279521 single base substitution G C upstream_gene_variant RECA-EU 19 45279746 45279746 single base substitution T A upstream_gene_variant RECA-EU 19 45280083 45280083 single base substitution C A upstream_gene_variant RECA-EU 19 45280827 45280827 single base substitution A T upstream_gene_variant RECA-EU 19 45284596 45284596 single base substitution C T synonymous_variant F211F 633C>T RECA-EU 19 45297978 45297978 single base substitution C T intron_variant SKCA-BR 19 45277387 45277387 insertion of <=200bp - TTG upstream_gene_variant SKCA-BR 19 45277660 45277660 single base substitution C T upstream_gene_variant SKCA-BR 19 45277893 45277893 single base substitution C T upstream_gene_variant SKCA-BR 19 45278953 45278953 single base substitution T G upstream_gene_variant SKCA-BR 19 45278970 45278970 single base substitution A G upstream_gene_variant SKCA-BR 19 45281109 45281109 single base substitution A C upstream_gene_variant SKCA-BR 19 45281148 45281148 single base substitution T C 5_prime_UTR_variant SKCA-BR 19 45282082 45282082 single base substitution C T intron_variant SKCA-BR 19 45282112 45282112 single base substitution C T intron_variant SKCA-BR 19 45282272 45282272 single base substitution T G intron_variant SKCA-BR 19 45283726 45283726 insertion of <=200bp - AT intron_variant SKCA-BR 19 45284716 45284752 deletion of <=200bp ACCTGGACTCCTGGATCTGAGGGAGGAGGGGCCGGGG - intron_variant SKCA-BR 19 45286830 45286830 single base substitution T G intron_variant SKCA-BR 19 45287375 45287375 single base substitution T G intron_variant SKCA-BR 19 45287514 45287514 single base substitution C T intron_variant SKCA-BR 19 45287514 45287514 single base substitution C T splice_region_variant SKCA-BR 19 45290122 45290122 single base substitution G A intron_variant SKCA-BR 19 45292274 45292274 single base substitution C A intron_variant SKCA-BR 19 45292579 45292579 single base substitution C T intron_variant SKCA-BR 19 45294006 45294006 single base substitution A T intron_variant SKCA-BR 19 45294007 45294007 single base substitution G T intron_variant SKCA-BR 19 45295253 45295253 insertion of <=200bp - CT intron_variant SKCA-BR 19 45296494 45296494 single base substitution G A intron_variant SKCA-BR 19 45296682 45296682 single base substitution G A intron_variant SKCA-BR 19 45296969 45296969 single base substitution A G intron_variant SKCA-BR 19 45296971 45296971 single base substitution A G intron_variant SKCA-BR 19 45299671 45299671 single base substitution A C intron_variant SKCA-BR 19 45300571 45300571 single base substitution G A intron_variant SKCA-BR 19 45300588 45300588 single base substitution A C intron_variant SKCA-BR 19 45301170 45301170 single base substitution A T intron_variant SKCA-BR 19 45301969 45301969 single base substitution G A intron_variant SKCA-BR 19 45303222 45303222 single base substitution T G intron_variant SKCA-BR 19 45304439 45304439 single base substitution C G downstream_gene_variant SKCA-BR 19 45304880 45304880 single base substitution T C downstream_gene_variant SKCA-BR 19 45306849 45306849 single base substitution G A downstream_gene_variant SKCM-US 19 45281316 45281316 single base substitution C T missense_variant S43L 128C>T SKCM-US 19 45281354 45281354 single base substitution C T stop_gained R56* 166C>T SKCM-US 19 45281402 45281402 single base substitution G A missense_variant G72S 214G>A SKCM-US 19 45281419 45281419 single base substitution G A synonymous_variant G77G 231G>A SKCM-US 19 45281486 45281486 single base substitution C T missense_variant P100S 298C>T SKCM-US 19 45281499 45281499 single base substitution G A missense_variant R104K 311G>A SKCM-US 19 45284184 45284184 single base substitution A C missense_variant I126L 376A>C SKCM-US 19 45284519 45284519 single base substitution G A missense_variant E186K 556G>A SKCM-US 19 45284534 45284534 single base substitution G A missense_variant A191T 571G>A SKCM-US 19 45284584 45284584 single base substitution C T synonymous_variant S207S 621C>T SKCM-US 19 45284596 45284596 single base substitution C T synonymous_variant F211F 633C>T SKCM-US 19 45285647 45285647 single base substitution G A synonymous_variant K226K 678G>A SKCM-US 19 45285708 45285708 single base substitution G A missense_variant V247I 739G>A SKCM-US 19 45285749 45285749 single base substitution G C splice_donor_variant SKCM-US 19 45293285 45293285 single base substitution C T synonymous_variant T268T 804C>T SKCM-US 19 45293285 45293285 single base substitution C T synonymous_variant T314T 942C>T SKCM-US 19 45295716 45295716 single base substitution T C missense_variant V315A 944T>C SKCM-US 19 45295716 45295716 single base substitution T C missense_variant V361A 1082T>C SKCM-US 19 45297465 45297465 single base substitution C T missense_variant P384L 1151C>T SKCM-US 19 45297465 45297465 single base substitution C T missense_variant P430L 1289C>T SKCM-US 19 45297477 45297477 single base substitution C T missense_variant P388L 1163C>T SKCM-US 19 45297477 45297477 single base substitution C T missense_variant P434L 1301C>T SKCM-US 19 45297532 45297532 single base substitution G A synonymous_variant P406P 1218G>A SKCM-US 19 45297532 45297532 single base substitution G A synonymous_variant P452P 1356G>A SKCM-US 19 45303658 45303658 single base substitution C T synonymous_variant S415S 1245C>T SKCM-US 19 45303658 45303658 single base substitution C T synonymous_variant S461S 1383C>T SKCM-US 19 45303659 45303659 single base substitution C T missense_variant P416S 1246C>T SKCM-US 19 45303659 45303659 single base substitution C T missense_variant P462S 1384C>T STAD-US 19 45281204 45281204 single base substitution G A missense_variant A6T 16G>A STAD-US 19 45281378 45281378 single base substitution G A missense_variant A64T 190G>A STAD-US 19 45284250 45284250 single base substitution A C missense_variant M148L 442A>C STAD-US 19 45296747 45296747 single base substitution C T missense_variant T339I 1016C>T STAD-US 19 45296747 45296747 single base substitution C T missense_variant T385I 1154C>T STAD-US 19 45296762 45296762 single base substitution G A missense_variant R344H 1031G>A STAD-US 19 45296762 45296762 single base substitution G A missense_variant R390H 1169G>A STAD-US 19 45296787 45296787 single base substitution C T synonymous_variant A352A 1056C>T STAD-US 19 45296787 45296787 single base substitution C T synonymous_variant A398A 1194C>T UCEC-US 19 45284164 45284164 single base substitution G A missense_variant R119Q 356G>A UCEC-US 19 45285708 45285708 single base substitution G C missense_variant V247L 739G>C UCEC-US 19 45287546 45287546 single base substitution C T intron_variant UCEC-US 19 45287546 45287546 single base substitution C T missense_variant R269C 805C>T UCEC-US 19 45303674 45303674 single base substitution G T stop_gained G421* 1261G>T UCEC-US 19 45303674 45303674 single base substitution G T stop_gained G467* 1399G>T UCEC-US 19 45303699 45303699 single base substitution G T stop_lost *429L 1286G>T UCEC-US 19 45303699 45303699 single base substitution G T stop_lost *475L 1424G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SH-7032 COSM3756940 c.458A>C p.K153T Substitution - Missense 19:44781009-44781009 + LAU63 COSM231958 c.1078G>A p.D360N Substitution - Missense 19:44792455-44792455 + I2L-P14b-Tumor-Organoid COSM5364885 c.1215C>T p.H405H Substitution - coding silent 19:44793551-44793551 + CN-AML-CR-3-Dx COSM5428178 c.500G>T p.R167L Substitution - Missense 19:44781051-44781051 + OSCC-GB_00680111 COSM4887701 c.1129G>T p.A377S Substitution - Missense 19:44792506-44792506 + SH-1439 COSM3756940 c.458A>C p.K153T Substitution - Missense 19:44781009-44781009 + 76629543 COSM1582417 c.115G>A p.V39M Substitution - Missense 19:44778046-44778046 + T27 COSM5343344 c.1348G>A p.A450T Substitution - Missense 19:44794267-44794267 + TCGA-D3-A51E-06 COSM3535755 c.942C>T p.T314T Substitution - coding silent 19:44790028-44790028 + AA1924 COSM4168458 c.921C>A p.Y307* Substitution - Nonsense 19:44790007-44790007 + WSU-HN30 COSM1394499 c.1253_1254insC p.Q419fs*>57 Insertion - Frameshift 19:44793589-44793590 + TCGA-BR-4184-01 COSM4079201 c.442A>C p.M148L Substitution - Missense 19:44780993-44780993 + TCGA-DK-A2I1-01 COSM1304755 c.1176G>A p.E392E Substitution - coding silent 19:44793512-44793512 + 587278 COSM1199722 c.1142C>T p.S381L Substitution - Missense 19:44793478-44793478 + STC291 COSM5056758 c.741C>T p.V247V Substitution - coding silent 19:44782453-44782453 + TCGA-DK-A2I4-01 COSM3797225 c.906G>A p.Q302Q Substitution - coding silent 19:44784390-44784390 + Pat_26_A COSM5856120 c.1195G>A p.V399M Substitution - Missense 19:44793531-44793531 + TCGA-AU-6004-01 COSM1394498 c.706C>T p.P236S Substitution - Missense 19:44782418-44782418 + TCGA-A2-A0T5-01 COSM3823383 c.643A>C p.T215P Substitution - Missense 19:44781349-44781349 + TCGA-GF-A6C9-06 COSM3103362 c.739G>A p.V247I Substitution - Missense 19:44782451-44782451 + ATL059 COSM5707077 c.718G>C p.A240P Substitution - Missense 19:44782430-44782430 + T1 COSM5617708 c.458A>C p.K153T Substitution - Missense 19:44781009-44781009 + 417 COSM4431671 c.1066G>C p.E356Q Substitution - Missense 19:44792443-44792443 + TCGA-A3-3365-01 COSM474903 c.637G>C p.V213L Substitution - Missense 19:44781343-44781343 + ID47 COSM1166653 c.926A>C p.Y309S Substitution - Missense 19:44790012-44790012 + TCGA-A2-A0T5-01 COSM5833770 c.643A>C p.T215P Substitution - Missense 19:44781349-44781349 + TCGA-A8-A06X-01 COSM5833769 c.639delC p.F214fs*65 Deletion - Frameshift 19:44781345-44781345 + CHC155T COSM3668294 c.899A>G p.E300G Substitution - Missense 19:44784383-44784383 + TCGA-A8-A06X-01 COSM439762 c.639delC p.F214fs*65 Deletion - Frameshift 19:44781345-44781345 + 1_PRE-TREATMENT COSM1718326 c.171G>A p.E57E Substitution - coding silent 19:44778102-44778102 + LUAD-S01315 COSM392436 c.691_692insT p.A232fs*14 Insertion - Frameshift 19:44782403-44782404 + TCGA-BR-4361-01 COSM4079204 c.1194C>T p.A398A Substitution - coding silent 19:44793530-44793530 + 104867 COSM94015 c.101A>G p.D34G Substitution - Missense 19:44778032-44778032 + TCGA-EE-A29D-06 COSM3535750 c.376A>C p.I126L Substitution - Missense 19:44780927-44780927 + TCGA-A2-A0T6-01 COSM3823384 c.704A>C p.H235P Substitution - Missense 19:44782416-44782416 + Pat_41_B COSM5856118 c.1093C>T p.P365S Substitution - Missense 19:44792470-44792470 + TCGA-13-0804-01 COSM69047 c.1198delA p.S400fs*55 Deletion - Frameshift 19:44793534-44793534 + TCGA-D9-A3Z1-06 COSM3103361 c.633C>T p.F211F Substitution - coding silent 19:44781339-44781339 + ESCC_91 COSM371087 c.609C>T p.S203S Substitution - coding silent 19:44781315-44781315 + 202_T COSM3960196 c.1227T>A p.T409T Substitution - coding silent 19:44793563-44793563 + TCGA-FW-A3R5-06 COSM3103360 c.621C>T p.S207S Substitution - coding silent 19:44781327-44781327 + HCC021T COSM5815759 c.1406A>T p.Q469L Substitution - Missense 19:44800424-44800424 + ODG5 COSM5731268 c.969C>T p.G323G Substitution - coding silent 19:44790055-44790055 + TCGA-EX-A69M-01 COSM4829164 c.1133G>A p.W378* Substitution - Nonsense 19:44792510-44792510 + SC_9096 COSM5564967 c.59G>A p.R20Q Substitution - Missense 19:44777990-44777990 + BD124T COSM5493956 c.616G>A p.V206M Substitution - Missense 19:44781322-44781322 + 60 COSM5762846 c.1030A>G p.M344V Substitution - Missense 19:44792407-44792407 + 1_RESISTANT COSM1718326 c.171G>A p.E57E Substitution - coding silent 19:44778102-44778102 + ID03 COSM1166623 c.206_207insGC p.G71fs*209 Insertion - Frameshift 19:44778137-44778138 + TCGA-A2-A0T5-01 COSM3823386 c.1314A>C p.P438P Substitution - coding silent 19:44794233-44794233 + Pat_26_A COSM5856119 c.1195G>A p.V399M Substitution - Missense 19:44793531-44793531 + TCGA-AN-A046-01 COSM5833772 c.740T>C p.V247A Substitution - Missense 19:44782452-44782452 + C0021T COSM3103361 c.633C>T p.F211F Substitution - coding silent 19:44781339-44781339 + S09-31237-TP COSM4991314 c.1417C>T p.P473S Substitution - Missense 19:44800435-44800435 + ESCC_44 COSM5630065 c.330C>T p.L110L Substitution - coding silent 19:44778261-44778261 + 587234 COSM1199723 c.421G>A p.G141R Substitution - Missense 19:44780972-44780972 + CML040T COSM5803182 c.909G>A p.K303K Substitution - coding silent 19:44784393-44784393 + TCGA-ER-A193-06 COSM3535756 c.1082T>C p.V361A Substitution - Missense 19:44792459-44792459 + TCGA-DK-A1AB-01 COSM418177 c.675C>G p.L225L Substitution - coding silent 19:44782387-44782387 + ESCC-F69 COSM5048329 c.393G>T p.M131I Substitution - Missense 19:44780944-44780944 + TCGA-AZ-6598-01 COSM1394500 c.1295C>T p.S432L Substitution - Missense 19:44794214-44794214 + TCGA-BR-8372-01 COSM4079203 c.1154C>T p.T385I Substitution - Missense 19:44793490-44793490 + LUAD-NYU195 COSM371087 c.609C>T p.S203S Substitution - coding silent 19:44781315-44781315 + YUQUEST COSM5390079 c.1356G>A p.P452P Substitution - coding silent 19:44794275-44794275 + TCGA-EI-6882-01 COSM3422920 c.109C>T p.L37L Substitution - coding silent 19:44778040-44778040 + TCGA-HT-A615-01 COSM3971084 c.417C>T p.F139F Substitution - coding silent 19:44780968-44780968 + B71 COSM1750969 c.1324C>G p.L442V Substitution - Missense 19:44794243-44794243 + SH-3458 COSM5019955 c.1213C>T p.H405Y Substitution - Missense 19:44793549-44793549 + TCGA-DA-A1I7-06 COSM3103361 c.633C>T p.F211F Substitution - coding silent 19:44781339-44781339 + TCGA-C5-A1MK-01 COSM4827065 c.40G>A p.E14K Substitution - Missense 19:44777971-44777971 + TCGA-AR-A1AY-01 COSM439764 c.1387C>G p.P463A Substitution - Missense 19:44800405-44800405 + PT08_1 COSM5894007 c.658-7A>C p.? Unknown 19:44782363-44782363 + SH-7282 COSM5020655 c.1303C>T p.P435S Substitution - Missense 19:44794222-44794222 + HCT15 COSM3103353 c.396C>T p.H132H Substitution - coding silent 19:44780947-44780947 + TCGA-BR-8380-01 COSM3103385 c.1169G>A p.R390H Substitution - Missense 19:44793505-44793505 + I2L-P14b-Tumor-Organoid COSM5364886 c.1215C>T p.Y405Y Substitution - coding silent 19:44793551-44793551 + TCGA-AX-A0J0-01 COSM998053 c.739G>C p.V247L Substitution - Missense 19:44782451-44782451 + CHC892T COSM5349258 c.577G>A p.A193T Substitution - Missense 19:44781283-44781283 + 2334195 COSM319248 c.1022A>G p.Y341C Substitution - Missense 19:44792399-44792399 + T3104 COSM4669533 c.1176G>T p.E392D Substitution - Missense 19:44793512-44793512 + CHC892T COSM4959821 c.577G>A p.A193T Substitution - Missense 19:44781283-44781283 + T2418 COSM4669531 c.215G>A p.G72D Substitution - Missense 19:44778146-44778146 + 2492710 COSM5718046 c.222C>A p.G74G Substitution - coding silent 19:44778153-44778153 + T27 COSM5343345 c.1348G>A p.A450T Substitution - Missense 19:44794267-44794267 + TCGA-AP-A0LM-01 COSM998051 c.356G>A p.R119Q Substitution - Missense 19:44780907-44780907 + 2492710 COSM5718047 c.222C>A p.G74G Substitution - coding silent 19:44778153-44778153 + 2492709 COSM5718047 c.222C>A p.G74G Substitution - coding silent 19:44778153-44778153 + TCGA-ER-A19J-06 COSM3535753 c.678G>A p.K226K Substitution - coding silent 19:44782390-44782390 + TCGA-AM-5821-01 COSM5617708 c.458A>C p.K153T Substitution - Missense 19:44781009-44781009 + Pat_41_B COSM5856117 c.1093C>T p.P365S Substitution - Missense 19:44792470-44792470 + I2L-P7-Tumor-Organoid COSM3103371 c.848G>A p.S283N Substitution - Missense 19:44784332-44784332 + 2492708 COSM5718046 c.222C>A p.G74G Substitution - coding silent 19:44778153-44778153 + BHY COSM1394499 c.1253_1254insC p.Q419fs*>57 Insertion - Frameshift 19:44793589-44793590 + TCGA-FS-A1ZW-06 COSM3535747 c.231G>A p.G77G Substitution - coding silent 19:44778162-44778162 + TCGA-EE-A2MR-06 COSM3535752 c.571G>A p.A191T Substitution - Missense 19:44781277-44781277 + TCGA-AZ-6598-01 COSM5141243 c.1295C>T p.S432L Substitution - Missense 19:44794214-44794214 + SC_9096 COSM5564968 c.59G>A p.R20Q Substitution - Missense 19:44777990-44777990 + T3724 COSM4669532 c.421delG p.G142fs*137 Deletion - Frameshift 19:44780972-44780972 + Pat_41_B COSM5856115 c.605G>A p.C202Y Substitution - Missense 19:44781311-44781311 + TCGA-HT-7875-01 COSM3971083 c.133C>T p.R45W Substitution - Missense 19:44778064-44778064 + 43T COSM108150 c.1356G>A p.P452P Substitution - coding silent 19:44794275-44794275 + I2L-P7-Tumor-Organoid COSM5365707 c.848G>A p.S283N Substitution - Missense 19:44784332-44784332 + 262LT COSM4382626 c.637G>A p.V213I Substitution - Missense 19:44781343-44781343 + 24 COSM1716918 c.1163T>C p.F388S Substitution - Missense 19:44793499-44793499 + TCGA-EB-A3Y7-01 COSM3535759 c.1384C>T p.P462S Substitution - Missense 19:44800402-44800402 + 2492708 COSM5718047 c.222C>A p.G74G Substitution - coding silent 19:44778153-44778153 + LUAD-RT-S01810 COSM382844 c.407A>T p.H136L Substitution - Missense 19:44780958-44780958 + HT115 COSM3103361 c.633C>T p.F211F Substitution - coding silent 19:44781339-44781339 + TCGA-EE-A2MR-06 COSM3535751 c.556G>A p.E186K Substitution - Missense 19:44781262-44781262 + 2145452 COSM3726897 c.1193C>T p.A398V Substitution - Missense 19:44793529-44793529 + TCGA-B5-A11J-01 COSM998060 c.1399G>T p.G467* Substitution - Nonsense 19:44800417-44800417 + CT-TC COSM4989668 c.1099G>A p.G367R Substitution - Missense 19:44792476-44792476 + BRC50 COSM4433287 c.690C>T p.L230L Substitution - coding silent 19:44782402-44782402 + CSCC-11-T COSM4463409 c.1290C>T p.P430P Substitution - coding silent 19:44794209-44794209 + Pat_41_B COSM5856116 c.605G>A p.C202Y Substitution - Missense 19:44781311-44781311 + TCGA-A8-A09C-01 COSM5833773 c.851_852delTC p.I284fs*37 Deletion - Frameshift 19:44784335-44784336 + SH-5693 COSM5020241 c.1419G>A p.P473P Substitution - coding silent 19:44800437-44800437 + TCGA-EE-A29D-06 COSM108150 c.1356G>A p.P452P Substitution - coding silent 19:44794275-44794275 + TCGA-A8-A09C-01 COSM5833774 c.851_852delTC p.I284fs*37 Deletion - Frameshift 19:44784335-44784336 + CSCC-44-T COSM4517918 c.462_463CC>TT p.P155S Substitution - Missense 19:44781013-44781014 + ESCC-F69 COSM5048328 c.393G>T p.M131I Substitution - Missense 19:44780944-44780944 + LS411 COSM3103371 c.848G>A p.S283N Substitution - Missense 19:44784332-44784332 + TCGA-AR-A1AY-01 COSM5211983 c.1387C>G p.P463A Substitution - Missense 19:44800405-44800405 + TCGA-G4-6298-01 COSM5828885 c.187C>T p.R63W Substitution - Missense 19:44778118-44778118 + BRC50 COSM5028582 c.690C>T p.L230L Substitution - coding silent 19:44782402-44782402 + LN18 COSM5712891 c.1341C>T p.P447P Substitution - coding silent 19:44794260-44794260 + 33 COSM5733442 c.1219C>T p.Q407* Substitution - Nonsense 19:44793555-44793555 + TCGA-Q1-A73O-01 COSM4834391 c.1066G>A p.E356K Substitution - Missense 19:44792443-44792443 + TCGA-61-2113-01 COSM133529 c.443_444TG>GA p.M148R Substitution - Missense 19:44780994-44780995 + HCC2998 COSM1683551 c.1255_1256insC p.Q419fs*>57 Insertion - Frameshift 19:44793591-44793592 + STC291 COSM5056759 c.741C>T p.V247V Substitution - coding silent 19:44782453-44782453 + TCGA-EE-A2GE-06 COSM3535757 c.1301C>T p.P434L Substitution - Missense 19:44794220-44794220 + 105062 COSM94016 c.497C>A p.A166D Substitution - Missense 19:44781048-44781048 + SH-1641 COSM3756940 c.458A>C p.K153T Substitution - Missense 19:44781009-44781009 + LN18 COSM5712892 c.1341C>T p.P447P Substitution - coding silent 19:44794260-44794260 + ESCC_91 COSM5636901 c.609C>T p.S203S Substitution - coding silent 19:44781315-44781315 + TCGA-G4-6298-01 COSM3692861 c.187C>T p.R63W Substitution - Missense 19:44778118-44778118 + TCGA-EE-A3J7-06 COSM3103348 c.128C>T p.S43L Substitution - Missense 19:44778059-44778059 + T1 COSM3756940 c.458A>C p.K153T Substitution - Missense 19:44781009-44781009 + ODG5 COSM5731267 c.969C>T p.G323G Substitution - coding silent 19:44790055-44790055 + SNU-175 COSM3103388 c.1301C>A p.P434H Substitution - Missense 19:44794220-44794220 + TCGA-EE-A29D-06 COSM3535748 c.298C>T p.P100S Substitution - Missense 19:44778229-44778229 + TCGA-A2-A0T6-01 COSM5833771 c.704A>C p.H235P Substitution - Missense 19:44782416-44782416 + D-09 COSM3103349 c.176C>A p.A59D Substitution - Missense 19:44778107-44778107 + 429 COSM4433287 c.690C>T p.L230L Substitution - coding silent 19:44782402-44782402 + RK308_C01 COSM3743003 c.724C>A p.L242I Substitution - Missense 19:44782436-44782436 + 60 COSM5762845 c.1030A>G p.M344V Substitution - Missense 19:44792407-44792407 + TCGA-EI-6882-01 COSM5079312 c.109C>T p.L37L Substitution - coding silent 19:44778040-44778040 + 2492709 COSM5718046 c.222C>A p.G74G Substitution - coding silent 19:44778153-44778153 + CHC892T COSM4959821 c.577G>A p.A193T Substitution - Missense 19:44781283-44781283 + 214 COSM4424312 c.167G>C p.R56P Substitution - Missense 19:44778098-44778098 + TCGA-39-5035-01 COSM712403 c.552T>C p.P184P Substitution - coding silent 19:44781258-44781258 + TCGA-EE-A29D-06 COSM3535749 c.311G>A p.R104K Substitution - Missense 19:44778242-44778242 + TCGA-EB-A5SF-01 COSM3892839 c.779+1G>C p.? Unknown 19:44782492-44782492 + CHC155T COSM5348921 c.899A>G p.E300G Substitution - Missense 19:44784383-44784383 + TCGA-AU-6004-01 COSM5135618 c.706C>T p.P236S Substitution - Missense 19:44782418-44782418 + TCGA-A2-A0T5-01 COSM5833775 c.1314A>C p.P438P Substitution - coding silent 19:44794233-44794233 + TCGA-FW-A3R5-06 COSM3892838 c.214G>A p.G72S Substitution - Missense 19:44778145-44778145 + 1604875 COSM141569 c.418C>T p.P140S Substitution - Missense 19:44780969-44780969 + 86571 COSM94017 c.902G>A p.G301E Substitution - Missense 19:44784386-44784386 + TCGA-EE-A29E-06 COSM3535746 c.166C>T p.R56* Substitution - Nonsense 19:44778097-44778097 + TCGA-AM-5821-01 COSM3756940 c.458A>C p.K153T Substitution - Missense 19:44781009-44781009 + TCGA-AN-A046-01 COSM3823385 c.740T>C p.V247A Substitution - Missense 19:44782452-44782452 + TCGA-HU-A4GX-01 COSM4079199 c.16G>A p.A6T Substitution - Missense 19:44777947-44777947 + TCGA-24-1557-01 COSM77424 c.1331C>T p.P444L Substitution - Missense 19:44794250-44794250 + CML040T COSM5803181 c.909G>A p.K303K Substitution - coding silent 19:44784393-44784393 + YUROC COSM5390077 c.901G>A p.G301R Substitution - Missense 19:44784385-44784385 + TCGA-FW-A3R5-06 COSM3892840 c.1289C>T p.P430L Substitution - Missense 19:44794208-44794208 + BD124T COSM5493955 c.616G>A p.V206M Substitution - Missense 19:44781322-44781322 + ESCC_44 COSM5630066 c.330C>T p.L110L Substitution - coding silent 19:44778261-44778261 + TCGA-BK-A0C9-01 COSM998062 c.1424G>T p.*475L Nonstop extension 19:44800442-44800442 + YUQUEST COSM108150 c.1356G>A p.P452P Substitution - coding silent 19:44794275-44794275 + HCC021T COSM5815758 c.1406A>T p.Q469L Substitution - Missense 19:44800424-44800424 + CHC155T COSM3668294 c.899A>G p.E300G Substitution - Missense 19:44784383-44784383 + TCGA-D3-A5GO-06 COSM3535758 c.1383C>T p.S461S Substitution - coding silent 19:44800401-44800401 + SH-7282 COSM5020649 c.1285-7A>C p.? Unknown 19:44794197-44794197 + NB-1110 COSM1283938 c.726C>A p.L242L Substitution - coding silent 19:44782438-44782438 + 33 COSM5733441 c.1219C>T p.Q407* Substitution - Nonsense 19:44793555-44793555 + SH-7282 COSM5020654 c.1239A>G p.S413S Substitution - coding silent 19:44793575-44793575 + RPMI-8226 COSM1683551 c.1255_1256insC p.Q419fs*>57 Insertion - Frameshift 19:44793591-44793592 + TCGA-FW-A3R5-06 COSM3535751 c.556G>A p.E186K Substitution - Missense 19:44781262-44781262 + TCGA-B9-A69E-01 COSM3990103 c.333C>G p.F111L Substitution - Missense 19:44778264-44778264 + CN-AML-CR-3-Dx COSM5428179 c.500G>T p.R167L Substitution - Missense 19:44781051-44781051 + CCK81 COSM3103351 c.211delG p.G72fs*207 Deletion - Frameshift 19:44778142-44778142 + YUKAT COSM5390076 c.705C>T p.H235H Substitution - coding silent 19:44782417-44782417 + YUROC COSM5390078 c.901G>A p.G301R Substitution - Missense 19:44784385-44784385 + PT08_1 COSM5894006 c.658-7A>C p.? Unknown 19:44782363-44782363 + ATL059 COSM5707076 c.718G>C p.A240P Substitution - Missense 19:44782430-44782430 + TCGA-B5-A0JY-01 COSM998055 c.805C>T p.R269C Substitution - Missense 19:44784289-44784289 + TCGA-BR-8487-01 COSM4079200 c.190G>A p.A64T Substitution - Missense 19:44778121-44778121 + YUKAT COSM5390075 c.705C>T p.H235H Substitution - coding silent 19:44782417-44782417 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.466907 19q13.2 608453

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.S400Vfs*55 c.1198delA 19 45296791 OV A G Missense p.Y341C c.1022A>G 19 45295656 SCLC CAC - InFrameDeletion p.T197delT c.590_592delCCA 19 45284548 BRCA C A Missense p.S76Y c.227C>A 19 45281415 CM C A Synonymous p.L242L c.726C>A 19 45285695 NB C G Missense p.A464G c.1391C>G 19 45303666 LUAD C G Missense p.P463A c.1387C>G 19 45303662 BRCA C G Synonymous p.L225L c.675C>G 19 45285644 BLCA C T Missense p.P310L c.929C>T 19 45293272 CM C T Missense p.P35S c.103C>T 19 45281291 CM C T Missense p.P434L c.1301C>T 19 45297477 CM C T Missense p.P444L c.1331C>T 19 45297507 OV C T Missense p.S43L c.128C>T 19 45281316 CM C T Synonymous p.F211F c.633C>T 19 45284596 CM C T Synonymous p.L230L c.690C>T 19 45285659 BRCA C T Synonymous p.L230L c.690C>T 19 45285659 CM C T Synonymous p.L319L c.955C>T 19 45293298 CM C T Synonymous p.S461S c.1383C>T 19 45303658 CM G A Missense p.A191T c.571G>A 19 45284534 CM G A Missense p.C145Y c.434G>A 19 45284242 STAD G A Missense p.E162K c.484G>A 19 45284292 CM G A Missense p.G312E c.935G>A 19 45293278 CM G A Synonymous p.E392E c.1176G>A 19 45296769 BLCA G A Synonymous p.G77G c.231G>A 19 45281419 CM G A Synonymous p.K226K c.678G>A 19 45285647 CM G A Synonymous p.P452P c.1356G>A 19 45297532 CM G A Synonymous p.Q302Q c.906G>A 19 45287647 BLCA G C Missense p.V213L c.637G>C 19 45284600 RCCC GG AT Missense p.R104N c.311_312delinsAT 19 45281499 CM G T 3-UTRSNV . c.1422+2G>T 19 45303699 UCEC G T Nonsense p.G467* c.1399G>T 19 45303674 UCEC T C Missense p.V361A c.1082T>C 19 45295716 CM T C Synonymous p.P184P c.552T>C 19 45284515 LUSC TG GA Missense p.M148R c.443_444delinsGA 19 45284251 OV