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 1 145579296 145579296 + Silent SNP C C T TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr1:145579296C>T c.633C>T c.(631-633)ctC>ctT p.L211L BLCA 1 145578321 145578321 + Missense_Mutation SNP C C T TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr1:145578321C>T c.284C>T c.(283-285)cCc>cTc p.P95L BLCA 1 145578392 145578392 + Missense_Mutation SNP C C G TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr1:145578392C>G c.355C>G c.(355-357)Ctg>Gtg p.L119V BLCA 1 145578392 145578392 + Silent SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 g.chr1:145578392C>T c.355C>T c.(355-357)Ctg>Ttg p.L119L BLCA 1 145580263 145580263 + Nonsense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 g.chr1:145580263C>T c.745C>T c.(745-747)Cga>Tga p.R249* BLCA 1 145584513 145584513 + Missense_Mutation SNP G G C TCGA-XF-A9SZ-01A-11D-A391-08 TCGA-XF-A9SZ-10A-01D-A394-08 g.chr1:145584513G>C c.1480G>C c.(1480-1482)Gtg>Ctg p.V494L BLCA 1 145584822 145584822 + Missense_Mutation SNP C C A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 g.chr1:145584822C>A c.1606C>A c.(1606-1608)Cag>Aag p.Q536K BRCA 1 145578473 145578473 + Missense_Mutation SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr1:145578473A>C c.436A>C c.(436-438)Acc>Ccc p.T146P BRCA 1 145585438 145585438 + Missense_Mutation SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr1:145585438A>C c.1703A>C c.(1702-1704)cAc>cCc p.H568P CESC 1 145579296 145579296 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr1:145579296C>G c.633C>G c.(631-633)ctC>ctG p.L211L CESC 1 145584227 145584227 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr1:145584227G>A c.1378G>A c.(1378-1380)Gat>Aat p.D460N CESC 1 145584227 145584227 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr1:145584227G>A c.1378G>A c.(1378-1380)Gat>Aat p.D460N COAD 1 145578228 145578228 + Missense_Mutation SNP G G A TCGA-AA-3561-01A-01W-0831-10 TCGA-AA-3561-10A-01W-0831-10 g.chr1:145578228G>A c.191G>A c.(190-192)cGc>cAc p.R64H COAD 1 145578342 145578342 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:145578342C>T c.305C>T c.(304-306)gCc>gTc p.A102V COAD 1 145578464 145578464 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:145578464C>T c.427C>T c.(427-429)Cgg>Tgg p.R143W COAD 1 145578475 145578475 + Silent SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:145578475C>T c.438C>T c.(436-438)acC>acT p.T146T COAD 1 145579323 145579323 + Frame_Shift_Del DEL C C - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:145579323delC c.660delC c.(658-660)tgcfs p.C220fs COAD 1 145581217 145581218 + Missense_Mutation DNP GT GT AC TCGA-AA-A01K-01A-01W-A00E-09 TCGA-AA-A01K-10A-01W-A00E-09 g.chr1:145581217_145581218GT>AC c.946_947GT>AC c.(946-948)GTg>ACg p.V316T COAD 1 145581220 145581220 + Missense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:145581220G>A c.949G>A c.(949-951)Gcc>Acc p.A317T COAD 1 145581473 145581473 + Missense_Mutation SNP G G A TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr1:145581473G>A c.1054G>A c.(1054-1056)Gcc>Acc p.A352T COAD 1 145584539 145584539 + Silent SNP G G A TCGA-AA-A01S-01A-21W-A096-10 TCGA-AA-A01S-11A-21W-A096-10 g.chr1:145584539G>A c.1506G>A c.(1504-1506)acG>acA p.T502T COAD 1 145584579 145584579 + Missense_Mutation SNP T T A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr1:145584579T>A c.1546T>A c.(1546-1548)Tac>Aac p.Y516N COAD 1 145585510 145585510 + Missense_Mutation SNP G G A TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr1:145585510G>A c.1775G>A c.(1774-1776)cGt>cAt p.R592H COAD 1 145585597 145585597 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr1:145585597G>A c.1862G>A c.(1861-1863)cGg>cAg p.R621Q COADREAD 1 145578228 145578228 + Missense_Mutation SNP G G A TCGA-AA-3561-01A-01W-0831-10 TCGA-AA-3561-10A-01W-0831-10 g.chr1:145578228G>A c.191G>A c.(190-192)cGc>cAc p.R64H COADREAD 1 145578342 145578342 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:145578342C>T c.305C>T c.(304-306)gCc>gTc p.A102V COADREAD 1 145578464 145578464 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:145578464C>T c.427C>T c.(427-429)Cgg>Tgg p.R143W COADREAD 1 145578475 145578475 + Silent SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:145578475C>T c.438C>T c.(436-438)acC>acT p.T146T COADREAD 1 145579323 145579323 + Frame_Shift_Del DEL C C - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:145579323delC c.660delC c.(658-660)tgcfs p.C220fs COADREAD 1 145581217 145581218 + Missense_Mutation DNP GT GT AC TCGA-AA-A01K-01A-01W-A00E-09 TCGA-AA-A01K-10A-01W-A00E-09 g.chr1:145581217_145581218GT>AC c.946_947GT>AC c.(946-948)GTg>ACg p.V316T COADREAD 1 145581220 145581220 + Missense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:145581220G>A c.949G>A c.(949-951)Gcc>Acc p.A317T COADREAD 1 145581473 145581473 + Missense_Mutation SNP G G A TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr1:145581473G>A c.1054G>A c.(1054-1056)Gcc>Acc p.A352T COADREAD 1 145584539 145584539 + Silent SNP G G A TCGA-AA-A01S-01A-21W-A096-10 TCGA-AA-A01S-11A-21W-A096-10 g.chr1:145584539G>A c.1506G>A c.(1504-1506)acG>acA p.T502T COADREAD 1 145584579 145584579 + Missense_Mutation SNP T T A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr1:145584579T>A c.1546T>A c.(1546-1548)Tac>Aac p.Y516N COADREAD 1 145585510 145585510 + Missense_Mutation SNP G G A TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr1:145585510G>A c.1775G>A c.(1774-1776)cGt>cAt p.R592H COADREAD 1 145585597 145585597 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr1:145585597G>A c.1862G>A c.(1861-1863)cGg>cAg p.R621Q ESCA 1 145585419 145585419 + Missense_Mutation SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr1:145585419T>C c.1684T>C c.(1684-1686)Tac>Cac p.Y562H GBM 1 145584562 145584562 + Missense_Mutation SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 g.chr1:145584562G>A c.1529G>A c.(1528-1530)aGt>aAt p.S510N GBMLGG 1 145584147 145584147 + Missense_Mutation SNP T T C TCGA-S9-A6TY-01A-12D-A32B-08 TCGA-S9-A6TY-10A-01D-A329-08 g.chr1:145584147T>C c.1298T>C c.(1297-1299)gTc>gCc p.V433A GBMLGG 1 145584562 145584562 + Missense_Mutation SNP G G A TCGA-06-0743-01A-01D-1492-08 TCGA-06-0743-10A-01D-1492-08 g.chr1:145584562G>A c.1529G>A c.(1528-1530)aGt>aAt p.S510N GBMLGG 1 145585437 145585437 + Missense_Mutation SNP C C G TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 g.chr1:145585437C>G c.1702C>G c.(1702-1704)Cac>Gac p.H568D HNSC 1 145580584 145580584 + Missense_Mutation SNP G G T TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chr1:145580584G>T c.884G>T c.(883-885)cGg>cTg p.R295L HNSC 1 145581457 145581457 + Silent SNP G G T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 g.chr1:145581457G>T c.1038G>T c.(1036-1038)ctG>ctT p.L346L HNSC 1 145581458 145581458 + Nonsense_Mutation SNP C C T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 g.chr1:145581458C>T c.1039C>T c.(1039-1041)Cag>Tag p.Q347* HNSC 1 145581474 145581474 + Missense_Mutation SNP C C G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 g.chr1:145581474C>G c.1055C>G c.(1054-1056)gCc>gGc p.A352G HNSC 1 145581554 145581554 + Missense_Mutation SNP A A G TCGA-CR-7367-01A-11D-2012-08 TCGA-CR-7367-10A-01D-2013-08 g.chr1:145581554A>G c.1135A>G c.(1135-1137)Atc>Gtc p.I379V KIPAN 1 145578967 145578967 + Missense_Mutation SNP C C T TCGA-J7-6720-01A-11D-2136-08 TCGA-J7-6720-10A-01D-2136-08 g.chr1:145578967C>T c.545C>T c.(544-546)gCc>gTc p.A182V KIRP 1 145578967 145578967 + Missense_Mutation SNP C C T TCGA-J7-6720-01A-11D-2136-08 TCGA-J7-6720-10A-01D-2136-08 g.chr1:145578967C>T c.545C>T c.(544-546)gCc>gTc p.A182V LGG 1 145584147 145584147 + Missense_Mutation SNP T T C TCGA-S9-A6TY-01A-12D-A32B-08 TCGA-S9-A6TY-10A-01D-A329-08 g.chr1:145584147T>C c.1298T>C c.(1297-1299)gTc>gCc p.V433A LGG 1 145585437 145585437 + Missense_Mutation SNP C C G TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 g.chr1:145585437C>G c.1702C>G c.(1702-1704)Cac>Gac p.H568D LIHC 1 145578670 145578670 + Missense_Mutation SNP A A G TCGA-2Y-A9H4-01A-11D-A382-10 TCGA-2Y-A9H4-10A-01D-A385-10 g.chr1:145578670A>G c.476A>G c.(475-477)cAc>cGc p.H159R LUAD 1 145578277 145578278 + Frame_Shift_Ins INS - - C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 g.chr1:145578277_145578278insC c.240_241insC c.(241-243)cccfs p.P81fs LUAD 1 145578314 145578314 + Missense_Mutation SNP C C G TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 g.chr1:145578314C>G c.277C>G c.(277-279)Cta>Gta p.L93V LUAD 1 145578347 145578347 + Missense_Mutation SNP G G T TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr1:145578347G>T c.310G>T c.(310-312)Ggc>Tgc p.G104C LUAD 1 145578385 145578385 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr1:145578385delC c.348delC c.(346-348)cacfs p.H116fs LUAD 1 145578988 145578988 + Missense_Mutation SNP A A T TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr1:145578988A>T c.566A>T c.(565-567)cAg>cTg p.Q189L LUAD 1 145580237 145580237 + Missense_Mutation SNP G G T TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 g.chr1:145580237G>T c.719G>T c.(718-720)cGc>cTc p.R240L LUAD 1 145580301 145580301 + Silent SNP T T C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 g.chr1:145580301T>C c.783T>C c.(781-783)aaT>aaC p.N261N LUAD 1 145580549 145580549 + Silent SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr1:145580549A>G c.849A>G c.(847-849)ggA>ggG p.G283G LUAD 1 145580564 145580564 + Silent SNP A A G TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 g.chr1:145580564A>G c.864A>G c.(862-864)aaA>aaG p.K288K LUSC 1 145578463 145578463 + Missense_Mutation SNP C C G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr1:145578463C>G c.426C>G c.(424-426)atC>atG p.I142M LUSC 1 145579331 145579331 + Splice_Site SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr1:145579331C>T c.668C>T c.(667-669)cCg>cTg p.P223L LUSC 1 145580518 145580518 + Missense_Mutation SNP C C G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 g.chr1:145580518C>G c.818C>G c.(817-819)tCt>tGt p.S273C PAAD 1 145578668 145578668 + Silent SNP G G A TCGA-2J-AAB8-01A-12D-A40W-08 TCGA-2J-AAB8-10A-01D-A40W-08 g.chr1:145578668G>A c.474G>A c.(472-474)gcG>gcA p.A158A PAAD 1 145584023 145584023 + Frame_Shift_Del DEL C C - TCGA-2L-AAQA-01A-21D-A38G-08 TCGA-2L-AAQA-11A-11D-A38J-08 g.chr1:145584023delC c.1254delC c.(1252-1254)tgcfs p.C418fs PAAD 1 145584278 145584278 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:145584278G>A c.1429G>A c.(1429-1431)Gcc>Acc p.A477T PRAD 1 145578061 145578061 + Splice_Site SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:145578061G>A c.e2-1 PRAD 1 145580242 145580242 + Missense_Mutation SNP A A G TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 g.chr1:145580242A>G c.724A>G c.(724-726)Atc>Gtc p.I242V SKCM 1 145578202 145578202 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr1:145578202G>A c.165G>A c.(163-165)atG>atA p.M55I SKCM 1 145578322 145578322 + Silent SNP C C A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 g.chr1:145578322C>A c.285C>A c.(283-285)ccC>ccA p.P95P SKCM 1 145578693 145578693 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr1:145578693C>T c.499C>T c.(499-501)Cag>Tag p.Q167* SKCM 1 145579312 145579312 + Missense_Mutation SNP G G T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr1:145579312G>T c.649G>T c.(649-651)Ggg>Tgg p.G217W SKCM 1 145580316 145580316 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 g.chr1:145580316C>T c.798C>T c.(796-798)ttC>ttT p.F266F SKCM 1 145580324 145580324 + Splice_Site DEL T T - TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:145580324delT c.e6+2 SKCM 1 145580513 145580513 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr1:145580513C>T c.813C>T c.(811-813)tcC>tcT p.S271S SKCM 1 145581490 145581490 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr1:145581490G>A c.1071G>A c.(1069-1071)atG>atA p.M357I SKCM 1 145584814 145584814 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr1:145584814C>T c.1598C>T c.(1597-1599)tCa>tTa p.S533L SKCM 1 145585607 145585607 + Silent SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr1:145585607C>T c.1872C>T c.(1870-1872)atC>atT p.I624I

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 145589022 145589022 single base substitution C T downstream_gene_variant BLCA-US 1 145584822 145584822 single base substitution C A downstream_gene_variant BLCA-US 1 145584822 145584822 single base substitution C A exon_variant BLCA-US 1 145584822 145584822 single base substitution C A missense_variant Q501K 1501C>A BLCA-US 1 145584822 145584822 single base substitution C A missense_variant Q536K 1606C>A BLCA-US 1 145586854 145586854 single base substitution G A downstream_gene_variant BLCA-US 1 145588986 145588986 single base substitution C T downstream_gene_variant BRCA-EU 1 145571252 145571252 single base substitution C G upstream_gene_variant BRCA-EU 1 145571543 145571543 single base substitution T C upstream_gene_variant BRCA-EU 1 145572141 145572141 single base substitution T A upstream_gene_variant BRCA-EU 1 145573245 145573245 single base substitution G A upstream_gene_variant BRCA-EU 1 145573531 145573531 single base substitution G T upstream_gene_variant BRCA-EU 1 145573714 145573714 single base substitution C T upstream_gene_variant BRCA-EU 1 145573862 145573862 single base substitution C G upstream_gene_variant BRCA-EU 1 145574318 145574318 single base substitution G A upstream_gene_variant BRCA-EU 1 145574344 145574344 single base substitution T G upstream_gene_variant BRCA-EU 1 145574638 145574638 single base substitution C A upstream_gene_variant BRCA-EU 1 145574816 145574816 single base substitution C G upstream_gene_variant BRCA-EU 1 145575629 145575629 single base substitution T C intron_variant BRCA-EU 1 145575629 145575629 single base substitution T C upstream_gene_variant BRCA-EU 1 145575821 145575821 single base substitution T A intron_variant BRCA-EU 1 145575821 145575821 single base substitution T A upstream_gene_variant BRCA-EU 1 145575973 145575973 single base substitution C G intron_variant BRCA-EU 1 145575973 145575973 single base substitution C G upstream_gene_variant BRCA-EU 1 145577219 145577219 deletion of <=200bp G - intron_variant BRCA-EU 1 145577219 145577219 deletion of <=200bp G - upstream_gene_variant BRCA-EU 1 145577669 145577669 single base substitution G C 5_prime_UTR_variant BRCA-EU 1 145577669 145577669 single base substitution G C intron_variant BRCA-EU 1 145577669 145577669 single base substitution G C upstream_gene_variant BRCA-EU 1 145578199 145578199 single base substitution G A exon_variant BRCA-EU 1 145578199 145578199 single base substitution G A synonymous_variant Q45Q 135G>A BRCA-EU 1 145578199 145578199 single base substitution G A synonymous_variant Q54Q 162G>A BRCA-EU 1 145578199 145578199 single base substitution G A synonymous_variant Q56Q 168G>A BRCA-EU 1 145578199 145578199 single base substitution G A upstream_gene_variant BRCA-EU 1 145578615 145578615 single base substitution A T downstream_gene_variant BRCA-EU 1 145578615 145578615 single base substitution A T exon_variant BRCA-EU 1 145578615 145578615 single base substitution A T intron_variant BRCA-EU 1 145578615 145578615 single base substitution A T upstream_gene_variant BRCA-EU 1 145579754 145579754 single base substitution A G downstream_gene_variant BRCA-EU 1 145579754 145579754 single base substitution A G intron_variant BRCA-EU 1 145579754 145579754 single base substitution A G upstream_gene_variant BRCA-EU 1 145580732 145580732 single base substitution C A downstream_gene_variant BRCA-EU 1 145580732 145580732 single base substitution C A exon_variant BRCA-EU 1 145580732 145580732 single base substitution C A intron_variant BRCA-EU 1 145580732 145580732 single base substitution C A upstream_gene_variant BRCA-EU 1 145581002 145581002 deletion of <=200bp C - downstream_gene_variant BRCA-EU 1 145581002 145581002 deletion of <=200bp C - exon_variant BRCA-EU 1 145581002 145581002 deletion of <=200bp C - intron_variant BRCA-EU 1 145581002 145581002 deletion of <=200bp C - upstream_gene_variant BRCA-EU 1 145581105 145581105 single base substitution C T downstream_gene_variant BRCA-EU 1 145581105 145581105 single base substitution C T exon_variant BRCA-EU 1 145581105 145581105 single base substitution C T intron_variant BRCA-EU 1 145581105 145581105 single base substitution C T upstream_gene_variant BRCA-EU 1 145582033 145582033 single base substitution T C downstream_gene_variant BRCA-EU 1 145582033 145582033 single base substitution T C intron_variant BRCA-EU 1 145582033 145582033 single base substitution T C upstream_gene_variant BRCA-EU 1 145582630 145582630 single base substitution A G downstream_gene_variant BRCA-EU 1 145582630 145582630 single base substitution A G intron_variant BRCA-EU 1 145582630 145582630 single base substitution A G upstream_gene_variant BRCA-EU 1 145584442 145584442 single base substitution C G downstream_gene_variant BRCA-EU 1 145584442 145584442 single base substitution C G intron_variant BRCA-EU 1 145584910 145584910 single base substitution C G downstream_gene_variant BRCA-EU 1 145584910 145584910 single base substitution C G exon_variant BRCA-EU 1 145584910 145584910 single base substitution C G intron_variant BRCA-EU 1 145584922 145584922 single base substitution C A downstream_gene_variant BRCA-EU 1 145584922 145584922 single base substitution C A exon_variant BRCA-EU 1 145584922 145584922 single base substitution C A intron_variant BRCA-EU 1 145585074 145585074 single base substitution C T downstream_gene_variant BRCA-EU 1 145585074 145585074 single base substitution C T exon_variant BRCA-EU 1 145585074 145585074 single base substitution C T intron_variant BRCA-EU 1 145585270 145585270 single base substitution C G downstream_gene_variant BRCA-EU 1 145585270 145585270 single base substitution C G exon_variant BRCA-EU 1 145585270 145585270 single base substitution C G intron_variant BRCA-EU 1 145586288 145586288 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 145586288 145586288 single base substitution C G exon_variant BRCA-EU 1 145587472 145587472 single base substitution G C downstream_gene_variant BRCA-EU 1 145588791 145588792 deletion of <=200bp TC - downstream_gene_variant BRCA-EU 1 145589215 145589215 single base substitution C G downstream_gene_variant BRCA-EU 1 145589345 145589345 single base substitution C G downstream_gene_variant BRCA-EU 1 145589576 145589576 single base substitution T G downstream_gene_variant BRCA-FR 1 145574638 145574638 single base substitution C A upstream_gene_variant BRCA-FR 1 145581105 145581105 single base substitution C T downstream_gene_variant BRCA-FR 1 145581105 145581105 single base substitution C T exon_variant BRCA-FR 1 145581105 145581105 single base substitution C T intron_variant BRCA-FR 1 145581105 145581105 single base substitution C T upstream_gene_variant BRCA-FR 1 145589215 145589215 single base substitution C G downstream_gene_variant BRCA-FR 1 145589345 145589345 single base substitution C G downstream_gene_variant BRCA-KR 1 145580404 145580404 single base substitution T C downstream_gene_variant BRCA-KR 1 145580404 145580404 single base substitution T C exon_variant BRCA-KR 1 145580404 145580404 single base substitution T C intron_variant BRCA-KR 1 145580404 145580404 single base substitution T C missense_variant F287L 859T>C BRCA-KR 1 145580404 145580404 single base substitution T C upstream_gene_variant BRCA-UK 1 145586288 145586288 single base substitution C G 3_prime_UTR_variant BRCA-UK 1 145586288 145586288 single base substitution C G exon_variant BRCA-US 1 145578473 145578473 single base substitution A C downstream_gene_variant BRCA-US 1 145578473 145578473 single base substitution A C exon_variant BRCA-US 1 145578473 145578473 single base substitution A C missense_variant T111P 331A>C BRCA-US 1 145578473 145578473 single base substitution A C missense_variant T137P 409A>C BRCA-US 1 145578473 145578473 single base substitution A C missense_variant T146P 436A>C BRCA-US 1 145578473 145578473 single base substitution A C upstream_gene_variant BRCA-US 1 145578592 145578592 single base substitution C T downstream_gene_variant BRCA-US 1 145578592 145578592 single base substitution C T exon_variant BRCA-US 1 145578592 145578592 single base substitution C T intron_variant BRCA-US 1 145578592 145578592 single base substitution C T upstream_gene_variant BRCA-US 1 145580380 145580380 single base substitution C T downstream_gene_variant BRCA-US 1 145580380 145580380 single base substitution C T exon_variant BRCA-US 1 145580380 145580380 single base substitution C T intron_variant BRCA-US 1 145580380 145580380 single base substitution C T missense_variant P279S 835C>T BRCA-US 1 145580380 145580380 single base substitution C T upstream_gene_variant BRCA-US 1 145585438 145585438 single base substitution A C downstream_gene_variant BRCA-US 1 145585438 145585438 single base substitution A C exon_variant BRCA-US 1 145585438 145585438 single base substitution A C missense_variant H533P 1598A>C BRCA-US 1 145585438 145585438 single base substitution A C missense_variant H568P 1703A>C BRCA-US 1 145585532 145585532 insertion of <=200bp - G downstream_gene_variant BRCA-US 1 145585532 145585532 insertion of <=200bp - G exon_variant BRCA-US 1 145585532 145585532 insertion of <=200bp - G frameshift_variant P564P? BRCA-US 1 145585532 145585532 insertion of <=200bp - G frameshift_variant P599P? BRCA-US 1 145587439 145587439 single base substitution A C downstream_gene_variant BRCA-US 1 145588435 145588435 single base substitution C T downstream_gene_variant BTCA-JP 1 145576116 145576116 deletion of <=200bp C - intron_variant BTCA-JP 1 145576116 145576116 deletion of <=200bp C - upstream_gene_variant BTCA-JP 1 145578385 145578385 deletion of <=200bp C - downstream_gene_variant BTCA-JP 1 145578385 145578385 deletion of <=200bp C - exon_variant BTCA-JP 1 145578385 145578385 deletion of <=200bp C - frameshift_variant H107 BTCA-JP 1 145578385 145578385 deletion of <=200bp C - frameshift_variant H116 BTCA-JP 1 145578385 145578385 deletion of <=200bp C - intron_variant BTCA-JP 1 145578385 145578385 deletion of <=200bp C - upstream_gene_variant BTCA-JP 1 145578575 145578575 single base substitution G A downstream_gene_variant BTCA-JP 1 145578575 145578575 single base substitution G A exon_variant BTCA-JP 1 145578575 145578575 single base substitution G A intron_variant BTCA-JP 1 145578575 145578575 single base substitution G A upstream_gene_variant BTCA-JP 1 145588380 145588380 single base substitution C G downstream_gene_variant CESC-US 1 145579296 145579296 single base substitution C G downstream_gene_variant CESC-US 1 145579296 145579296 single base substitution C G exon_variant CESC-US 1 145579296 145579296 single base substitution C G synonymous_variant L176L 528C>G CESC-US 1 145579296 145579296 single base substitution C G synonymous_variant L202L 606C>G CESC-US 1 145579296 145579296 single base substitution C G synonymous_variant L211L 633C>G CESC-US 1 145579296 145579296 single base substitution C G upstream_gene_variant CESC-US 1 145584227 145584227 single base substitution G A downstream_gene_variant CESC-US 1 145584227 145584227 single base substitution G A exon_variant CESC-US 1 145584227 145584227 single base substitution G A missense_variant D425N 1273G>A CESC-US 1 145584227 145584227 single base substitution G A missense_variant D460N 1378G>A CESC-US 1 145588598 145588598 single base substitution C T downstream_gene_variant CLLE-ES 1 145573292 145573292 single base substitution A T upstream_gene_variant CLLE-ES 1 145577822 145577822 single base substitution A G intron_variant CLLE-ES 1 145577822 145577822 single base substitution A G upstream_gene_variant COAD-US 1 145578342 145578342 single base substitution C T downstream_gene_variant COAD-US 1 145578342 145578342 single base substitution C T exon_variant COAD-US 1 145578342 145578342 single base substitution C T intron_variant COAD-US 1 145578342 145578342 single base substitution C T missense_variant A102V 305C>T COAD-US 1 145578342 145578342 single base substitution C T missense_variant A93V 278C>T COAD-US 1 145578342 145578342 single base substitution C T upstream_gene_variant COAD-US 1 145578475 145578475 single base substitution C T downstream_gene_variant COAD-US 1 145578475 145578475 single base substitution C T exon_variant COAD-US 1 145578475 145578475 single base substitution C T synonymous_variant T111T 333C>T COAD-US 1 145578475 145578475 single base substitution C T synonymous_variant T137T 411C>T COAD-US 1 145578475 145578475 single base substitution C T synonymous_variant T146T 438C>T COAD-US 1 145578475 145578475 single base substitution C T upstream_gene_variant COAD-US 1 145579323 145579323 deletion of <=200bp C - downstream_gene_variant COAD-US 1 145579323 145579323 deletion of <=200bp C - exon_variant COAD-US 1 145579323 145579323 deletion of <=200bp C - frameshift_variant C185 COAD-US 1 145579323 145579323 deletion of <=200bp C - frameshift_variant C211 COAD-US 1 145579323 145579323 deletion of <=200bp C - frameshift_variant C220 COAD-US 1 145579323 145579323 deletion of <=200bp C - upstream_gene_variant COAD-US 1 145581220 145581220 single base substitution G A downstream_gene_variant COAD-US 1 145581220 145581220 single base substitution G A exon_variant COAD-US 1 145581220 145581220 single base substitution G A missense_variant A282T 844G>A COAD-US 1 145581220 145581220 single base substitution G A missense_variant A317T 949G>A COAD-US 1 145581220 145581220 single base substitution G A upstream_gene_variant COAD-US 1 145584579 145584579 single base substitution T A downstream_gene_variant COAD-US 1 145584579 145584579 single base substitution T A exon_variant COAD-US 1 145584579 145584579 single base substitution T A missense_variant Y481N 1441T>A COAD-US 1 145584579 145584579 single base substitution T A missense_variant Y516N 1546T>A COAD-US 1 145585510 145585510 single base substitution G A downstream_gene_variant COAD-US 1 145585510 145585510 single base substitution G A exon_variant COAD-US 1 145585510 145585510 single base substitution G A missense_variant R557H 1670G>A COAD-US 1 145585510 145585510 single base substitution G A missense_variant R592H 1775G>A COAD-US 1 145585597 145585597 single base substitution G A downstream_gene_variant COAD-US 1 145585597 145585597 single base substitution G A exon_variant COAD-US 1 145585597 145585597 single base substitution G A missense_variant R586Q 1757G>A COAD-US 1 145585597 145585597 single base substitution G A missense_variant R621Q 1862G>A COAD-US 1 145586672 145586676 deletion of <=200bp TTTTA - downstream_gene_variant COAD-US 1 145586679 145586679 deletion of <=200bp C - downstream_gene_variant COAD-US 1 145586900 145586900 single base substitution G A downstream_gene_variant COAD-US 1 145587747 145587747 single base substitution G T downstream_gene_variant COCA-CN 1 145576109 145576109 single base substitution G C intron_variant COCA-CN 1 145576109 145576109 single base substitution G C upstream_gene_variant COCA-CN 1 145581371 145581371 single base substitution G A downstream_gene_variant COCA-CN 1 145581371 145581371 single base substitution G A intron_variant COCA-CN 1 145581371 145581371 single base substitution G A upstream_gene_variant COCA-CN 1 145584375 145584375 single base substitution G T downstream_gene_variant COCA-CN 1 145584375 145584375 single base substitution G T intron_variant ESAD-UK 1 145571289 145571289 single base substitution G T upstream_gene_variant ESAD-UK 1 145572216 145572216 single base substitution T A upstream_gene_variant ESAD-UK 1 145573235 145573235 single base substitution G A upstream_gene_variant ESAD-UK 1 145576045 145576045 single base substitution C T 5_prime_UTR_variant ESAD-UK 1 145576045 145576045 single base substitution C T exon_variant ESAD-UK 1 145576045 145576045 single base substitution C T intron_variant ESAD-UK 1 145576045 145576045 single base substitution C T upstream_gene_variant ESAD-UK 1 145576653 145576653 single base substitution G A intron_variant ESAD-UK 1 145576653 145576653 single base substitution G A upstream_gene_variant ESAD-UK 1 145577226 145577226 single base substitution G A intron_variant ESAD-UK 1 145577226 145577226 single base substitution G A upstream_gene_variant ESAD-UK 1 145578224 145578224 single base substitution C T exon_variant ESAD-UK 1 145578224 145578224 single base substitution C T stop_gained R54* 160C>T ESAD-UK 1 145578224 145578224 single base substitution C T stop_gained R63* 187C>T ESAD-UK 1 145578224 145578224 single base substitution C T stop_gained R65* 193C>T ESAD-UK 1 145578224 145578224 single base substitution C T upstream_gene_variant ESAD-UK 1 145579865 145579865 single base substitution G A downstream_gene_variant ESAD-UK 1 145579865 145579865 single base substitution G A intron_variant ESAD-UK 1 145579865 145579865 single base substitution G A upstream_gene_variant ESAD-UK 1 145583770 145583770 single base substitution A T downstream_gene_variant ESAD-UK 1 145583770 145583770 single base substitution A T exon_variant ESAD-UK 1 145583770 145583770 single base substitution A T intron_variant ESAD-UK 1 145589572 145589572 single base substitution G A downstream_gene_variant ESAD-UK 1 145589872 145589872 single base substitution T G downstream_gene_variant ESAD-UK 1 145590340 145590340 insertion of <=200bp - T downstream_gene_variant ESAD-UK 1 145590885 145590886 deletion of <=200bp TC - downstream_gene_variant ESCA-CN 1 145578326 145578326 single base substitution C T downstream_gene_variant ESCA-CN 1 145578326 145578326 single base substitution C T exon_variant ESCA-CN 1 145578326 145578326 single base substitution C T intron_variant ESCA-CN 1 145578326 145578326 single base substitution C T missense_variant P88S 262C>T ESCA-CN 1 145578326 145578326 single base substitution C T missense_variant P97S 289C>T ESCA-CN 1 145578326 145578326 single base substitution C T upstream_gene_variant ESCA-CN 1 145579251 145579251 single base substitution C G downstream_gene_variant ESCA-CN 1 145579251 145579251 single base substitution C G exon_variant ESCA-CN 1 145579251 145579251 single base substitution C G synonymous_variant L161L 483C>G ESCA-CN 1 145579251 145579251 single base substitution C G synonymous_variant L187L 561C>G ESCA-CN 1 145579251 145579251 single base substitution C G synonymous_variant L196L 588C>G ESCA-CN 1 145579251 145579251 single base substitution C G upstream_gene_variant ESCA-CN 1 145587858 145587858 insertion of <=200bp - T downstream_gene_variant GBM-US 1 145584562 145584562 single base substitution G A downstream_gene_variant GBM-US 1 145584562 145584562 single base substitution G A exon_variant GBM-US 1 145584562 145584562 single base substitution G A missense_variant S475N 1424G>A GBM-US 1 145584562 145584562 single base substitution G A missense_variant S510N 1529G>A KIRP-US 1 145578967 145578967 single base substitution C T downstream_gene_variant KIRP-US 1 145578967 145578967 single base substitution C T exon_variant KIRP-US 1 145578967 145578967 single base substitution C T missense_variant A147V 440C>T KIRP-US 1 145578967 145578967 single base substitution C T missense_variant A173V 518C>T KIRP-US 1 145578967 145578967 single base substitution C T missense_variant A182V 545C>T KIRP-US 1 145578967 145578967 single base substitution C T upstream_gene_variant LAML-KR 1 145581644 145581644 single base substitution C T downstream_gene_variant LAML-KR 1 145581644 145581644 single base substitution C T intron_variant LAML-KR 1 145581644 145581644 single base substitution C T upstream_gene_variant LAML-KR 1 145583575 145583575 single base substitution A G downstream_gene_variant LAML-KR 1 145583575 145583575 single base substitution A G intron_variant LAML-KR 1 145583575 145583575 single base substitution A G upstream_gene_variant LAML-KR 1 145583585 145583585 single base substitution A G downstream_gene_variant LAML-KR 1 145583585 145583585 single base substitution A G intron_variant LAML-KR 1 145583585 145583585 single base substitution A G upstream_gene_variant LGG-US 1 145585437 145585437 single base substitution C G downstream_gene_variant LGG-US 1 145585437 145585437 single base substitution C G exon_variant LGG-US 1 145585437 145585437 single base substitution C G missense_variant H533D 1597C>G LGG-US 1 145585437 145585437 single base substitution C G missense_variant H568D 1702C>G LICA-FR 1 145572945 145572945 insertion of <=200bp - TTTATTTATTTATTTATTTA upstream_gene_variant LICA-FR 1 145572945 145572945 insertion of <=200bp - TTTATTTA upstream_gene_variant LIHC-US 1 145585532 145585532 single base substitution T G downstream_gene_variant LIHC-US 1 145585532 145585532 single base substitution T G exon_variant LIHC-US 1 145585532 145585532 single base substitution T G synonymous_variant P564P 1692T>G LIHC-US 1 145585532 145585532 single base substitution T G synonymous_variant P599P 1797T>G LIHC-US 1 145587383 145587383 insertion of <=200bp - G downstream_gene_variant LIHC-US 1 145589344 145589344 single base substitution T C downstream_gene_variant LINC-JP 1 145574642 145574642 single base substitution A G upstream_gene_variant LINC-JP 1 145578774 145578774 single base substitution T A downstream_gene_variant LINC-JP 1 145578774 145578774 single base substitution T A intron_variant LINC-JP 1 145578774 145578774 single base substitution T A upstream_gene_variant LINC-JP 1 145578827 145578827 single base substitution T G downstream_gene_variant LINC-JP 1 145578827 145578827 single base substitution T G intron_variant LINC-JP 1 145578827 145578827 single base substitution T G upstream_gene_variant LINC-JP 1 145579947 145579947 deletion of <=200bp C - downstream_gene_variant LINC-JP 1 145579947 145579947 deletion of <=200bp C - intron_variant LINC-JP 1 145579947 145579947 deletion of <=200bp C - upstream_gene_variant LINC-JP 1 145580490 145580490 single base substitution C A 3_prime_UTR_variant LINC-JP 1 145580490 145580490 single base substitution C A downstream_gene_variant LINC-JP 1 145580490 145580490 single base substitution C A exon_variant LINC-JP 1 145580490 145580490 single base substitution C A intron_variant LINC-JP 1 145580490 145580490 single base substitution C A upstream_gene_variant LINC-JP 1 145584230 145584230 single base substitution C G downstream_gene_variant LINC-JP 1 145584230 145584230 single base substitution C G exon_variant LINC-JP 1 145584230 145584230 single base substitution C G missense_variant L426V 1276C>G LINC-JP 1 145584230 145584230 single base substitution C G missense_variant L461V 1381C>G LINC-JP 1 145586468 145586468 single base substitution A C 3_prime_UTR_variant LINC-JP 1 145586468 145586468 single base substitution A C exon_variant LINC-JP 1 145588739 145588739 single base substitution T G downstream_gene_variant LINC-JP 1 145588740 145588740 single base substitution G T downstream_gene_variant LINC-JP 1 145591249 145591249 single base substitution G A downstream_gene_variant LIRI-JP 1 145572201 145572201 insertion of <=200bp - T upstream_gene_variant LIRI-JP 1 145572923 145572923 single base substitution T A upstream_gene_variant LIRI-JP 1 145572970 145572970 single base substitution C T upstream_gene_variant LIRI-JP 1 145573634 145573634 single base substitution G C upstream_gene_variant LIRI-JP 1 145575527 145575527 single base substitution A G intron_variant LIRI-JP 1 145575527 145575527 single base substitution A G upstream_gene_variant LIRI-JP 1 145575882 145575882 single base substitution T C intron_variant LIRI-JP 1 145575882 145575882 single base substitution T C upstream_gene_variant LIRI-JP 1 145577966 145577966 single base substitution G T intron_variant LIRI-JP 1 145577966 145577966 single base substitution G T upstream_gene_variant LIRI-JP 1 145581148 145581148 single base substitution T G downstream_gene_variant LIRI-JP 1 145581148 145581148 single base substitution T G exon_variant LIRI-JP 1 145581148 145581148 single base substitution T G intron_variant LIRI-JP 1 145581148 145581148 single base substitution T G upstream_gene_variant LIRI-JP 1 145581571 145581571 single base substitution C T downstream_gene_variant LIRI-JP 1 145581571 145581571 single base substitution C T splice_region_variant LIRI-JP 1 145581571 145581571 single base substitution C T upstream_gene_variant LIRI-JP 1 145582288 145582288 single base substitution T C downstream_gene_variant LIRI-JP 1 145582288 145582288 single base substitution T C intron_variant LIRI-JP 1 145582288 145582288 single base substitution T C upstream_gene_variant LIRI-JP 1 145585357 145585357 single base substitution A T downstream_gene_variant LIRI-JP 1 145585357 145585357 single base substitution A T exon_variant LIRI-JP 1 145585357 145585357 single base substitution A T missense_variant H506L 1517A>T LIRI-JP 1 145585357 145585357 single base substitution A T missense_variant H541L 1622A>T LIRI-JP 1 145585357 145585357 single base substitution A T splice_region_variant LIRI-JP 1 145586460 145586460 single base substitution C G 3_prime_UTR_variant LIRI-JP 1 145586460 145586460 single base substitution C G exon_variant LIRI-JP 1 145591493 145591493 single base substitution T C downstream_gene_variant LUSC-KR 1 145574381 145574381 single base substitution C A upstream_gene_variant LUSC-KR 1 145579431 145579431 single base substitution G T downstream_gene_variant LUSC-KR 1 145579431 145579431 single base substitution G T intron_variant LUSC-KR 1 145579431 145579431 single base substitution G T upstream_gene_variant LUSC-KR 1 145581417 145581417 single base substitution G T downstream_gene_variant LUSC-KR 1 145581417 145581417 single base substitution G T exon_variant LUSC-KR 1 145581417 145581417 single base substitution G T missense_variant R298L 893G>T LUSC-KR 1 145581417 145581417 single base substitution G T missense_variant R333L 998G>T LUSC-KR 1 145581417 145581417 single base substitution G T upstream_gene_variant LUSC-KR 1 145583367 145583367 single base substitution T C downstream_gene_variant LUSC-KR 1 145583367 145583367 single base substitution T C intron_variant LUSC-KR 1 145583367 145583367 single base substitution T C upstream_gene_variant LUSC-US 1 145578463 145578463 single base substitution C G downstream_gene_variant LUSC-US 1 145578463 145578463 single base substitution C G exon_variant LUSC-US 1 145578463 145578463 single base substitution C G missense_variant I107M 321C>G LUSC-US 1 145578463 145578463 single base substitution C G missense_variant I133M 399C>G LUSC-US 1 145578463 145578463 single base substitution C G missense_variant I142M 426C>G LUSC-US 1 145578463 145578463 single base substitution C G upstream_gene_variant LUSC-US 1 145579331 145579331 single base substitution C T downstream_gene_variant LUSC-US 1 145579331 145579331 single base substitution C T missense_variant P188L 563C>T LUSC-US 1 145579331 145579331 single base substitution C T missense_variant P214L 641C>T LUSC-US 1 145579331 145579331 single base substitution C T missense_variant P223L 668C>T LUSC-US 1 145579331 145579331 single base substitution C T splice_region_variant LUSC-US 1 145579331 145579331 single base substitution C T upstream_gene_variant LUSC-US 1 145580518 145580518 single base substitution C G 3_prime_UTR_variant LUSC-US 1 145580518 145580518 single base substitution C G downstream_gene_variant LUSC-US 1 145580518 145580518 single base substitution C G exon_variant LUSC-US 1 145580518 145580518 single base substitution C G missense_variant S238C 713C>G LUSC-US 1 145580518 145580518 single base substitution C G missense_variant S273C 818C>G LUSC-US 1 145580518 145580518 single base substitution C G upstream_gene_variant LUSC-US 1 145587438 145587438 single base substitution C T downstream_gene_variant MALY-DE 1 145582055 145582056 deletion of <=200bp TG - downstream_gene_variant MALY-DE 1 145582055 145582056 deletion of <=200bp TG - intron_variant MALY-DE 1 145582055 145582056 deletion of <=200bp TG - upstream_gene_variant MALY-DE 1 145583212 145583212 single base substitution C T downstream_gene_variant MALY-DE 1 145583212 145583212 single base substitution C T intron_variant MALY-DE 1 145583212 145583212 single base substitution C T upstream_gene_variant MALY-DE 1 145589885 145589885 single base substitution T A downstream_gene_variant MELA-AU 1 145570409 145570409 single base substitution C T upstream_gene_variant MELA-AU 1 145570454 145570454 single base substitution G A upstream_gene_variant MELA-AU 1 145570470 145570470 single base substitution C T upstream_gene_variant MELA-AU 1 145570860 145570860 single base substitution G A upstream_gene_variant MELA-AU 1 145571290 145571290 single base substitution G A upstream_gene_variant MELA-AU 1 145571314 145571314 single base substitution G A upstream_gene_variant MELA-AU 1 145571330 145571330 single base substitution G A upstream_gene_variant MELA-AU 1 145571514 145571514 single base substitution G A upstream_gene_variant MELA-AU 1 145571532 145571532 single base substitution G A upstream_gene_variant MELA-AU 1 145571605 145571605 single base substitution C T upstream_gene_variant MELA-AU 1 145571611 145571611 single base substitution G A upstream_gene_variant MELA-AU 1 145571683 145571683 single base substitution A T upstream_gene_variant MELA-AU 1 145571694 145571694 single base substitution C T upstream_gene_variant MELA-AU 1 145571719 145571719 single base substitution C T upstream_gene_variant MELA-AU 1 145571724 145571724 single base substitution C T upstream_gene_variant MELA-AU 1 145571793 145571793 single base substitution C T upstream_gene_variant MELA-AU 1 145571794 145571794 single base substitution C T upstream_gene_variant MELA-AU 1 145571830 145571830 single base substitution C T upstream_gene_variant MELA-AU 1 145571992 145571992 single base substitution G A upstream_gene_variant MELA-AU 1 145572148 145572148 single base substitution C T upstream_gene_variant MELA-AU 1 145572169 145572169 single base substitution C T upstream_gene_variant MELA-AU 1 145572212 145572212 single base substitution C T upstream_gene_variant MELA-AU 1 145572359 145572359 single base substitution C T upstream_gene_variant MELA-AU 1 145572463 145572463 single base substitution G A upstream_gene_variant MELA-AU 1 145572502 145572502 single base substitution G A upstream_gene_variant MELA-AU 1 145572580 145572580 single base substitution T C upstream_gene_variant MELA-AU 1 145572787 145572787 single base substitution G A upstream_gene_variant MELA-AU 1 145572891 145572891 single base substitution C T upstream_gene_variant MELA-AU 1 145573310 145573310 single base substitution C T upstream_gene_variant MELA-AU 1 145573494 145573494 single base substitution C T upstream_gene_variant MELA-AU 1 145573711 145573711 single base substitution C T upstream_gene_variant MELA-AU 1 145573757 145573757 single base substitution C T upstream_gene_variant MELA-AU 1 145573897 145573897 single base substitution G A upstream_gene_variant MELA-AU 1 145574130 145574130 single base substitution C T upstream_gene_variant MELA-AU 1 145574332 145574332 single base substitution C T upstream_gene_variant MELA-AU 1 145574484 145574484 single base substitution A T upstream_gene_variant MELA-AU 1 145574663 145574663 single base substitution C A upstream_gene_variant MELA-AU 1 145574746 145574746 single base substitution G A upstream_gene_variant MELA-AU 1 145575080 145575080 single base substitution C T upstream_gene_variant MELA-AU 1 145575099 145575099 single base substitution G A upstream_gene_variant MELA-AU 1 145575205 145575205 single base substitution C T upstream_gene_variant MELA-AU 1 145575792 145575792 single base substitution C T intron_variant MELA-AU 1 145575792 145575792 single base substitution C T upstream_gene_variant MELA-AU 1 145577026 145577026 single base substitution T C intron_variant MELA-AU 1 145577026 145577026 single base substitution T C upstream_gene_variant MELA-AU 1 145577037 145577037 single base substitution G T intron_variant MELA-AU 1 145577037 145577037 single base substitution G T upstream_gene_variant MELA-AU 1 145577647 145577647 single base substitution C T intron_variant MELA-AU 1 145577647 145577647 single base substitution C T splice_region_variant MELA-AU 1 145577647 145577647 single base substitution C T upstream_gene_variant MELA-AU 1 145578940 145578940 single base substitution C T downstream_gene_variant MELA-AU 1 145578940 145578940 single base substitution C T intron_variant MELA-AU 1 145578940 145578940 single base substitution C T upstream_gene_variant MELA-AU 1 145579072 145579073 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 145579072 145579073 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 145579072 145579073 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 145579209 145579209 single base substitution C T downstream_gene_variant MELA-AU 1 145579209 145579209 single base substitution C T intron_variant MELA-AU 1 145579209 145579209 single base substitution C T upstream_gene_variant MELA-AU 1 145579392 145579392 single base substitution A G downstream_gene_variant MELA-AU 1 145579392 145579392 single base substitution A G intron_variant MELA-AU 1 145579392 145579392 single base substitution A G upstream_gene_variant MELA-AU 1 145579400 145579400 deletion of <=200bp C - downstream_gene_variant MELA-AU 1 145579400 145579400 deletion of <=200bp C - intron_variant MELA-AU 1 145579400 145579400 deletion of <=200bp C - upstream_gene_variant MELA-AU 1 145579480 145579480 single base substitution C T downstream_gene_variant MELA-AU 1 145579480 145579480 single base substitution C T intron_variant MELA-AU 1 145579480 145579480 single base substitution C T upstream_gene_variant MELA-AU 1 145579660 145579660 single base substitution C T downstream_gene_variant MELA-AU 1 145579660 145579660 single base substitution C T intron_variant MELA-AU 1 145579660 145579660 single base substitution C T upstream_gene_variant MELA-AU 1 145579896 145579896 single base substitution T C downstream_gene_variant MELA-AU 1 145579896 145579896 single base substitution T C intron_variant MELA-AU 1 145579896 145579896 single base substitution T C upstream_gene_variant MELA-AU 1 145580256 145580256 single base substitution C T downstream_gene_variant MELA-AU 1 145580256 145580256 single base substitution C T exon_variant MELA-AU 1 145580256 145580256 single base substitution C T synonymous_variant P211P 633C>T MELA-AU 1 145580256 145580256 single base substitution C T synonymous_variant P237P 711C>T MELA-AU 1 145580256 145580256 single base substitution C T synonymous_variant P246P 738C>T MELA-AU 1 145580256 145580256 single base substitution C T upstream_gene_variant MELA-AU 1 145580316 145580316 single base substitution C T downstream_gene_variant MELA-AU 1 145580316 145580316 single base substitution C T exon_variant MELA-AU 1 145580316 145580316 single base substitution C T synonymous_variant F231F 693C>T MELA-AU 1 145580316 145580316 single base substitution C T synonymous_variant F257F 771C>T MELA-AU 1 145580316 145580316 single base substitution C T synonymous_variant F266F 798C>T MELA-AU 1 145580316 145580316 single base substitution C T upstream_gene_variant MELA-AU 1 145580376 145580376 single base substitution C T downstream_gene_variant MELA-AU 1 145580376 145580376 single base substitution C T exon_variant MELA-AU 1 145580376 145580376 single base substitution C T intron_variant MELA-AU 1 145580376 145580376 single base substitution C T synonymous_variant N277N 831C>T MELA-AU 1 145580376 145580376 single base substitution C T upstream_gene_variant MELA-AU 1 145580452 145580452 single base substitution C T 3_prime_UTR_variant MELA-AU 1 145580452 145580452 single base substitution C T downstream_gene_variant MELA-AU 1 145580452 145580452 single base substitution C T exon_variant MELA-AU 1 145580452 145580452 single base substitution C T intron_variant MELA-AU 1 145580452 145580452 single base substitution C T upstream_gene_variant MELA-AU 1 145580635 145580636 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 1 145580635 145580636 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 145580635 145580636 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 1 145580635 145580636 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 145580635 145580636 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 145580740 145580740 single base substitution C T downstream_gene_variant MELA-AU 1 145580740 145580740 single base substitution C T exon_variant MELA-AU 1 145580740 145580740 single base substitution C T intron_variant MELA-AU 1 145580740 145580740 single base substitution C T upstream_gene_variant MELA-AU 1 145580793 145580793 single base substitution C T downstream_gene_variant MELA-AU 1 145580793 145580793 single base substitution C T exon_variant MELA-AU 1 145580793 145580793 single base substitution C T intron_variant MELA-AU 1 145580793 145580793 single base substitution C T upstream_gene_variant MELA-AU 1 145581025 145581025 single base substitution C T downstream_gene_variant MELA-AU 1 145581025 145581025 single base substitution C T exon_variant MELA-AU 1 145581025 145581025 single base substitution C T intron_variant MELA-AU 1 145581025 145581025 single base substitution C T upstream_gene_variant MELA-AU 1 145581031 145581031 single base substitution C T downstream_gene_variant MELA-AU 1 145581031 145581031 single base substitution C T exon_variant MELA-AU 1 145581031 145581031 single base substitution C T intron_variant MELA-AU 1 145581031 145581031 single base substitution C T upstream_gene_variant MELA-AU 1 145581404 145581422 deletion of <=200bp CTAGGGAAGATGCGCCTGA - downstream_gene_variant MELA-AU 1 145581404 145581422 deletion of <=200bp CTAGGGAAGATGCGCCTGA - frameshift_variant LGKMRLT294 MELA-AU 1 145581404 145581422 deletion of <=200bp CTAGGGAAGATGCGCCTGA - frameshift_variant LGKMRLT329 MELA-AU 1 145581404 145581422 deletion of <=200bp CTAGGGAAGATGCGCCTGA - splice_region_variant MELA-AU 1 145581404 145581422 deletion of <=200bp CTAGGGAAGATGCGCCTGA - upstream_gene_variant MELA-AU 1 145581490 145581490 single base substitution G A downstream_gene_variant MELA-AU 1 145581490 145581490 single base substitution G A exon_variant MELA-AU 1 145581490 145581490 single base substitution G A missense_variant M322I 966G>A MELA-AU 1 145581490 145581490 single base substitution G A missense_variant M357I 1071G>A MELA-AU 1 145581490 145581490 single base substitution G A upstream_gene_variant MELA-AU 1 145581620 145581620 single base substitution G A downstream_gene_variant MELA-AU 1 145581620 145581620 single base substitution G A intron_variant MELA-AU 1 145581620 145581620 single base substitution G A upstream_gene_variant MELA-AU 1 145581680 145581680 single base substitution C T downstream_gene_variant MELA-AU 1 145581680 145581680 single base substitution C T intron_variant MELA-AU 1 145581680 145581680 single base substitution C T upstream_gene_variant MELA-AU 1 145582782 145582782 single base substitution C A downstream_gene_variant MELA-AU 1 145582782 145582782 single base substitution C A intron_variant MELA-AU 1 145582782 145582782 single base substitution C A upstream_gene_variant MELA-AU 1 145582899 145582899 single base substitution C T downstream_gene_variant MELA-AU 1 145582899 145582899 single base substitution C T intron_variant MELA-AU 1 145582899 145582899 single base substitution C T upstream_gene_variant MELA-AU 1 145583133 145583133 single base substitution C T downstream_gene_variant MELA-AU 1 145583133 145583133 single base substitution C T intron_variant MELA-AU 1 145583133 145583133 single base substitution C T upstream_gene_variant MELA-AU 1 145583435 145583435 single base substitution C T downstream_gene_variant MELA-AU 1 145583435 145583435 single base substitution C T intron_variant MELA-AU 1 145583435 145583435 single base substitution C T upstream_gene_variant MELA-AU 1 145583931 145583931 single base substitution C T downstream_gene_variant MELA-AU 1 145583931 145583931 single base substitution C T exon_variant MELA-AU 1 145583931 145583931 single base substitution C T missense_variant L353F 1057C>T MELA-AU 1 145583931 145583931 single base substitution C T missense_variant L388F 1162C>T MELA-AU 1 145584060 145584060 single base substitution C T downstream_gene_variant MELA-AU 1 145584060 145584060 single base substitution C T intron_variant MELA-AU 1 145584097 145584097 single base substitution T G downstream_gene_variant MELA-AU 1 145584097 145584097 single base substitution T G intron_variant MELA-AU 1 145584854 145584854 single base substitution C T downstream_gene_variant MELA-AU 1 145584854 145584854 single base substitution C T exon_variant MELA-AU 1 145584854 145584854 single base substitution C T intron_variant MELA-AU 1 145585488 145585489 multiple base substitution (>=2bp and <=200bp) AC TT downstream_gene_variant MELA-AU 1 145585488 145585489 multiple base substitution (>=2bp and <=200bp) AC TT exon_variant MELA-AU 1 145585488 145585489 multiple base substitution (>=2bp and <=200bp) AC TT missense_variant T550F 1648AC>TT MELA-AU 1 145585488 145585489 multiple base substitution (>=2bp and <=200bp) AC TT missense_variant T585F 1753AC>TT MELA-AU 1 145586163 145586163 single base substitution T C 3_prime_UTR_variant MELA-AU 1 145586163 145586163 single base substitution T C exon_variant MELA-AU 1 145587474 145587474 single base substitution T C downstream_gene_variant MELA-AU 1 145589444 145589444 single base substitution C T downstream_gene_variant MELA-AU 1 145589459 145589459 single base substitution G A downstream_gene_variant MELA-AU 1 145589538 145589538 single base substitution G A downstream_gene_variant MELA-AU 1 145591271 145591271 single base substitution G A downstream_gene_variant ORCA-IN 1 145585392 145585392 single base substitution C A downstream_gene_variant ORCA-IN 1 145585392 145585392 single base substitution C A exon_variant ORCA-IN 1 145585392 145585392 single base substitution C A missense_variant Q518K 1552C>A ORCA-IN 1 145585392 145585392 single base substitution C A missense_variant Q553K 1657C>A OV-AU 1 145571727 145571727 single base substitution A G upstream_gene_variant OV-AU 1 145572958 145572958 single base substitution T A upstream_gene_variant OV-AU 1 145573459 145573459 single base substitution T A upstream_gene_variant OV-AU 1 145583348 145583348 single base substitution C G downstream_gene_variant OV-AU 1 145583348 145583348 single base substitution C G intron_variant OV-AU 1 145583348 145583348 single base substitution C G upstream_gene_variant OV-AU 1 145588013 145588013 single base substitution C T downstream_gene_variant OV-AU 1 145590695 145590695 single base substitution A T downstream_gene_variant OV-AU 1 145590908 145590908 single base substitution A G downstream_gene_variant OV-AU 1 145591495 145591495 single base substitution C G downstream_gene_variant PACA-AU 1 145571247 145571247 single base substitution C G upstream_gene_variant PACA-AU 1 145572665 145572665 single base substitution C G upstream_gene_variant PACA-AU 1 145575171 145575171 deletion of <=200bp C - upstream_gene_variant PACA-AU 1 145575272 145575272 single base substitution C T 5_prime_UTR_variant PACA-AU 1 145575272 145575272 single base substitution C T upstream_gene_variant PACA-AU 1 145575306 145575306 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 1 145575306 145575306 single base substitution G A upstream_gene_variant PACA-AU 1 145580475 145580475 single base substitution G T 3_prime_UTR_variant PACA-AU 1 145580475 145580475 single base substitution G T downstream_gene_variant PACA-AU 1 145580475 145580475 single base substitution G T exon_variant PACA-AU 1 145580475 145580475 single base substitution G T intron_variant PACA-AU 1 145580475 145580475 single base substitution G T upstream_gene_variant PACA-AU 1 145581466 145581466 single base substitution C T downstream_gene_variant PACA-AU 1 145581466 145581466 single base substitution C T exon_variant PACA-AU 1 145581466 145581466 single base substitution C T synonymous_variant F314F 942C>T PACA-AU 1 145581466 145581466 single base substitution C T synonymous_variant F349F 1047C>T PACA-AU 1 145581466 145581466 single base substitution C T upstream_gene_variant PACA-CA 1 145571613 145571613 single base substitution G T upstream_gene_variant PACA-CA 1 145572398 145572398 single base substitution G A upstream_gene_variant PACA-CA 1 145572560 145572560 single base substitution T G upstream_gene_variant PACA-CA 1 145573366 145573366 single base substitution C T upstream_gene_variant PACA-CA 1 145574627 145574627 single base substitution T C upstream_gene_variant PACA-CA 1 145577023 145577023 single base substitution G C intron_variant PACA-CA 1 145577023 145577023 single base substitution G C upstream_gene_variant PACA-CA 1 145578412 145578412 single base substitution T C downstream_gene_variant PACA-CA 1 145578412 145578412 single base substitution T C exon_variant PACA-CA 1 145578412 145578412 single base substitution T C synonymous_variant P116P 348T>C PACA-CA 1 145578412 145578412 single base substitution T C synonymous_variant P125P 375T>C PACA-CA 1 145578412 145578412 single base substitution T C synonymous_variant P90P 270T>C PACA-CA 1 145578412 145578412 single base substitution T C upstream_gene_variant PACA-CA 1 145578464 145578464 single base substitution C G downstream_gene_variant PACA-CA 1 145578464 145578464 single base substitution C G exon_variant PACA-CA 1 145578464 145578464 single base substitution C G missense_variant R108G 322C>G PACA-CA 1 145578464 145578464 single base substitution C G missense_variant R134G 400C>G PACA-CA 1 145578464 145578464 single base substitution C G missense_variant R143G 427C>G PACA-CA 1 145578464 145578464 single base substitution C G upstream_gene_variant PACA-CA 1 145579734 145579734 deletion of <=200bp A - downstream_gene_variant PACA-CA 1 145579734 145579734 deletion of <=200bp A - intron_variant PACA-CA 1 145579734 145579734 deletion of <=200bp A - upstream_gene_variant PACA-CA 1 145581072 145581072 single base substitution C T downstream_gene_variant PACA-CA 1 145581072 145581072 single base substitution C T exon_variant PACA-CA 1 145581072 145581072 single base substitution C T intron_variant PACA-CA 1 145581072 145581072 single base substitution C T upstream_gene_variant PACA-CA 1 145583770 145583770 single base substitution A G downstream_gene_variant PACA-CA 1 145583770 145583770 single base substitution A G exon_variant PACA-CA 1 145583770 145583770 single base substitution A G intron_variant PACA-CA 1 145589486 145589486 single base substitution T C downstream_gene_variant PACA-CA 1 145591406 145591406 single base substitution T C downstream_gene_variant PAEN-IT 1 145577636 145577636 single base substitution C G intron_variant PAEN-IT 1 145577636 145577636 single base substitution C G upstream_gene_variant PBCA-DE 1 145571590 145571590 single base substitution G A upstream_gene_variant PBCA-DE 1 145574638 145574638 single base substitution C A upstream_gene_variant PBCA-DE 1 145575293 145575293 single base substitution C G 5_prime_UTR_variant PBCA-DE 1 145575293 145575293 single base substitution C G upstream_gene_variant PRAD-CA 1 145574320 145574320 single base substitution G C upstream_gene_variant PRAD-CA 1 145576181 145576181 single base substitution G A intron_variant PRAD-CA 1 145576181 145576181 single base substitution G A upstream_gene_variant PRAD-CA 1 145591309 145591309 single base substitution C T downstream_gene_variant PRAD-UK 1 145575864 145575864 single base substitution C G intron_variant PRAD-UK 1 145575864 145575864 single base substitution C G upstream_gene_variant PRAD-UK 1 145576848 145576848 single base substitution G T intron_variant PRAD-UK 1 145576848 145576848 single base substitution G T upstream_gene_variant PRAD-US 1 145580242 145580242 single base substitution A G downstream_gene_variant PRAD-US 1 145580242 145580242 single base substitution A G exon_variant PRAD-US 1 145580242 145580242 single base substitution A G missense_variant I207V 619A>G PRAD-US 1 145580242 145580242 single base substitution A G missense_variant I233V 697A>G PRAD-US 1 145580242 145580242 single base substitution A G missense_variant I242V 724A>G PRAD-US 1 145580242 145580242 single base substitution A G upstream_gene_variant READ-US 1 145588452 145588452 single base substitution G A downstream_gene_variant RECA-EU 1 145572091 145572091 single base substitution T G upstream_gene_variant RECA-EU 1 145586835 145586835 single base substitution C T downstream_gene_variant RECA-EU 1 145588835 145588835 single base substitution T C downstream_gene_variant SKCA-BR 1 145575147 145575147 single base substitution C T upstream_gene_variant SKCA-BR 1 145575208 145575208 single base substitution T C upstream_gene_variant SKCA-BR 1 145577619 145577619 single base substitution C T intron_variant SKCA-BR 1 145577619 145577619 single base substitution C T upstream_gene_variant SKCA-BR 1 145579019 145579019 single base substitution C T downstream_gene_variant SKCA-BR 1 145579019 145579019 single base substitution C T intron_variant SKCA-BR 1 145579019 145579019 single base substitution C T upstream_gene_variant SKCA-BR 1 145579020 145579020 single base substitution C T downstream_gene_variant SKCA-BR 1 145579020 145579020 single base substitution C T intron_variant SKCA-BR 1 145579020 145579020 single base substitution C T upstream_gene_variant SKCA-BR 1 145581025 145581025 single base substitution C T downstream_gene_variant SKCA-BR 1 145581025 145581025 single base substitution C T exon_variant SKCA-BR 1 145581025 145581025 single base substitution C T intron_variant SKCA-BR 1 145581025 145581025 single base substitution C T upstream_gene_variant SKCA-BR 1 145581253 145581253 single base substitution C T downstream_gene_variant SKCA-BR 1 145581253 145581253 single base substitution C T missense_variant P293S 877C>T SKCA-BR 1 145581253 145581253 single base substitution C T missense_variant P328S 982C>T SKCA-BR 1 145581253 145581253 single base substitution C T splice_region_variant SKCA-BR 1 145581253 145581253 single base substitution C T upstream_gene_variant SKCA-BR 1 145581254 145581254 single base substitution C T downstream_gene_variant SKCA-BR 1 145581254 145581254 single base substitution C T missense_variant P293L 878C>T SKCA-BR 1 145581254 145581254 single base substitution C T missense_variant P328L 983C>T SKCA-BR 1 145581254 145581254 single base substitution C T splice_region_variant SKCA-BR 1 145581254 145581254 single base substitution C T upstream_gene_variant SKCA-BR 1 145583991 145583991 single base substitution A G downstream_gene_variant SKCA-BR 1 145583991 145583991 single base substitution A G exon_variant SKCA-BR 1 145583991 145583991 single base substitution A G missense_variant M373V 1117A>G SKCA-BR 1 145583991 145583991 single base substitution A G missense_variant M408V 1222A>G SKCA-BR 1 145587625 145587625 single base substitution A C downstream_gene_variant SKCA-BR 1 145589538 145589538 single base substitution G A downstream_gene_variant SKCA-BR 1 145590336 145590336 single base substitution T A downstream_gene_variant SKCM-US 1 145578202 145578202 single base substitution G A exon_variant SKCM-US 1 145578202 145578202 single base substitution G A missense_variant M46I 138G>A SKCM-US 1 145578202 145578202 single base substitution G A missense_variant M55I 165G>A SKCM-US 1 145578202 145578202 single base substitution G A missense_variant M57I 171G>A SKCM-US 1 145578202 145578202 single base substitution G A upstream_gene_variant SKCM-US 1 145578322 145578322 single base substitution C A downstream_gene_variant SKCM-US 1 145578322 145578322 single base substitution C A exon_variant SKCM-US 1 145578322 145578322 single base substitution C A intron_variant SKCM-US 1 145578322 145578322 single base substitution C A synonymous_variant P86P 258C>A SKCM-US 1 145578322 145578322 single base substitution C A synonymous_variant P95P 285C>A SKCM-US 1 145578322 145578322 single base substitution C A upstream_gene_variant SKCM-US 1 145578693 145578693 single base substitution C T downstream_gene_variant SKCM-US 1 145578693 145578693 single base substitution C T exon_variant SKCM-US 1 145578693 145578693 single base substitution C T stop_gained Q132* 394C>T SKCM-US 1 145578693 145578693 single base substitution C T stop_gained Q158* 472C>T SKCM-US 1 145578693 145578693 single base substitution C T stop_gained Q167* 499C>T SKCM-US 1 145578693 145578693 single base substitution C T upstream_gene_variant SKCM-US 1 145579312 145579312 single base substitution G T downstream_gene_variant SKCM-US 1 145579312 145579312 single base substitution G T exon_variant SKCM-US 1 145579312 145579312 single base substitution G T missense_variant G182W 544G>T SKCM-US 1 145579312 145579312 single base substitution G T missense_variant G208W 622G>T SKCM-US 1 145579312 145579312 single base substitution G T missense_variant G217W 649G>T SKCM-US 1 145579312 145579312 single base substitution G T upstream_gene_variant SKCM-US 1 145580316 145580316 single base substitution C T downstream_gene_variant SKCM-US 1 145580316 145580316 single base substitution C T exon_variant SKCM-US 1 145580316 145580316 single base substitution C T synonymous_variant F231F 693C>T SKCM-US 1 145580316 145580316 single base substitution C T synonymous_variant F257F 771C>T SKCM-US 1 145580316 145580316 single base substitution C T synonymous_variant F266F 798C>T SKCM-US 1 145580316 145580316 single base substitution C T upstream_gene_variant SKCM-US 1 145580324 145580324 deletion of <=200bp T - downstream_gene_variant SKCM-US 1 145580324 145580324 deletion of <=200bp T - exon_variant SKCM-US 1 145580324 145580324 deletion of <=200bp T - frameshift_variant V260 SKCM-US 1 145580324 145580324 deletion of <=200bp T - splice_donor_variant SKCM-US 1 145580324 145580324 deletion of <=200bp T - upstream_gene_variant SKCM-US 1 145580513 145580513 single base substitution C T 3_prime_UTR_variant SKCM-US 1 145580513 145580513 single base substitution C T downstream_gene_variant SKCM-US 1 145580513 145580513 single base substitution C T exon_variant SKCM-US 1 145580513 145580513 single base substitution C T synonymous_variant S236S 708C>T SKCM-US 1 145580513 145580513 single base substitution C T synonymous_variant S271S 813C>T SKCM-US 1 145580513 145580513 single base substitution C T upstream_gene_variant SKCM-US 1 145581490 145581490 single base substitution G A downstream_gene_variant SKCM-US 1 145581490 145581490 single base substitution G A exon_variant SKCM-US 1 145581490 145581490 single base substitution G A missense_variant M322I 966G>A SKCM-US 1 145581490 145581490 single base substitution G A missense_variant M357I 1071G>A SKCM-US 1 145581490 145581490 single base substitution G A upstream_gene_variant SKCM-US 1 145584814 145584814 single base substitution C T downstream_gene_variant SKCM-US 1 145584814 145584814 single base substitution C T exon_variant SKCM-US 1 145584814 145584814 single base substitution C T missense_variant S498L 1493C>T SKCM-US 1 145584814 145584814 single base substitution C T missense_variant S533L 1598C>T SKCM-US 1 145585607 145585607 single base substitution C T downstream_gene_variant SKCM-US 1 145585607 145585607 single base substitution C T exon_variant SKCM-US 1 145585607 145585607 single base substitution C T synonymous_variant I589I 1767C>T SKCM-US 1 145585607 145585607 single base substitution C T synonymous_variant I624I 1872C>T SKCM-US 1 145587474 145587474 single base substitution T C downstream_gene_variant STAD-US 1 145578119 145578119 single base substitution C T exon_variant STAD-US 1 145578119 145578119 single base substitution C T missense_variant R19W 55C>T STAD-US 1 145578119 145578119 single base substitution C T missense_variant R28W 82C>T STAD-US 1 145578119 145578119 single base substitution C T missense_variant R30W 88C>T STAD-US 1 145578119 145578119 single base substitution C T upstream_gene_variant STAD-US 1 145578250 145578250 single base substitution G A exon_variant STAD-US 1 145578250 145578250 single base substitution G A synonymous_variant G62G 186G>A STAD-US 1 145578250 145578250 single base substitution G A synonymous_variant G71G 213G>A STAD-US 1 145578250 145578250 single base substitution G A synonymous_variant G73G 219G>A STAD-US 1 145578250 145578250 single base substitution G A upstream_gene_variant STAD-US 1 145578385 145578385 deletion of <=200bp C - downstream_gene_variant STAD-US 1 145578385 145578385 deletion of <=200bp C - exon_variant STAD-US 1 145578385 145578385 deletion of <=200bp C - frameshift_variant H107 STAD-US 1 145578385 145578385 deletion of <=200bp C - frameshift_variant H116 STAD-US 1 145578385 145578385 deletion of <=200bp C - intron_variant STAD-US 1 145578385 145578385 deletion of <=200bp C - upstream_gene_variant STAD-US 1 145578465 145578465 single base substitution G A downstream_gene_variant STAD-US 1 145578465 145578465 single base substitution G A exon_variant STAD-US 1 145578465 145578465 single base substitution G A missense_variant R108Q 323G>A STAD-US 1 145578465 145578465 single base substitution G A missense_variant R134Q 401G>A STAD-US 1 145578465 145578465 single base substitution G A missense_variant R143Q 428G>A STAD-US 1 145578465 145578465 single base substitution G A upstream_gene_variant STAD-US 1 145579269 145579269 single base substitution C A downstream_gene_variant STAD-US 1 145579269 145579269 single base substitution C A exon_variant STAD-US 1 145579269 145579269 single base substitution C A synonymous_variant P167P 501C>A STAD-US 1 145579269 145579269 single base substitution C A synonymous_variant P193P 579C>A STAD-US 1 145579269 145579269 single base substitution C A synonymous_variant P202P 606C>A STAD-US 1 145579269 145579269 single base substitution C A upstream_gene_variant STAD-US 1 145580195 145580195 deletion of <=200bp T - downstream_gene_variant STAD-US 1 145580195 145580195 deletion of <=200bp T - exon_variant STAD-US 1 145580195 145580195 deletion of <=200bp T - frameshift_variant L191 STAD-US 1 145580195 145580195 deletion of <=200bp T - frameshift_variant L217 STAD-US 1 145580195 145580195 deletion of <=200bp T - frameshift_variant L226 STAD-US 1 145580195 145580195 deletion of <=200bp T - upstream_gene_variant STAD-US 1 145580520 145580520 single base substitution G A 3_prime_UTR_variant STAD-US 1 145580520 145580520 single base substitution G A downstream_gene_variant STAD-US 1 145580520 145580520 single base substitution G A exon_variant STAD-US 1 145580520 145580520 single base substitution G A missense_variant V239M 715G>A STAD-US 1 145580520 145580520 single base substitution G A missense_variant V274M 820G>A STAD-US 1 145580520 145580520 single base substitution G A upstream_gene_variant STAD-US 1 145581207 145581207 single base substitution T C downstream_gene_variant STAD-US 1 145581207 145581207 single base substitution T C exon_variant STAD-US 1 145581207 145581207 single base substitution T C synonymous_variant P277P 831T>C STAD-US 1 145581207 145581207 single base substitution T C synonymous_variant P312P 936T>C STAD-US 1 145581207 145581207 single base substitution T C upstream_gene_variant STAD-US 1 145584029 145584029 single base substitution G A downstream_gene_variant STAD-US 1 145584029 145584029 single base substitution G A exon_variant STAD-US 1 145584029 145584029 single base substitution G A synonymous_variant P385P 1155G>A STAD-US 1 145584029 145584029 single base substitution G A synonymous_variant P420P 1260G>A STAD-US 1 145584516 145584516 single base substitution C T downstream_gene_variant STAD-US 1 145584516 145584516 single base substitution C T exon_variant STAD-US 1 145584516 145584516 single base substitution C T synonymous_variant L460L 1378C>T STAD-US 1 145584516 145584516 single base substitution C T synonymous_variant L495L 1483C>T STAD-US 1 145588424 145588424 deletion of <=200bp T - downstream_gene_variant THCA-SA 1 145578974 145578974 single base substitution T C downstream_gene_variant THCA-SA 1 145578974 145578974 single base substitution T C exon_variant THCA-SA 1 145578974 145578974 single base substitution T C synonymous_variant C149C 447T>C THCA-SA 1 145578974 145578974 single base substitution T C synonymous_variant C175C 525T>C THCA-SA 1 145578974 145578974 single base substitution T C synonymous_variant C184C 552T>C THCA-SA 1 145578974 145578974 single base substitution T C upstream_gene_variant THCA-SA 1 145585833 145585833 single base substitution T G 3_prime_UTR_variant THCA-SA 1 145585833 145585833 single base substitution T G exon_variant THCA-SA 1 145586940 145586940 single base substitution C T downstream_gene_variant THCA-US 1 145578441 145578441 single base substitution A G downstream_gene_variant THCA-US 1 145578441 145578441 single base substitution A G exon_variant THCA-US 1 145578441 145578441 single base substitution A G missense_variant Y100C 299A>G THCA-US 1 145578441 145578441 single base substitution A G missense_variant Y126C 377A>G THCA-US 1 145578441 145578441 single base substitution A G missense_variant Y135C 404A>G THCA-US 1 145578441 145578441 single base substitution A G upstream_gene_variant THCA-US 1 145584527 145584527 single base substitution T A downstream_gene_variant THCA-US 1 145584527 145584527 single base substitution T A exon_variant THCA-US 1 145584527 145584527 single base substitution T A synonymous_variant P463P 1389T>A THCA-US 1 145584527 145584527 single base substitution T A synonymous_variant P498P 1494T>A THCA-US 1 145588735 145588735 single base substitution G A downstream_gene_variant UCEC-US 1 145578428 145578428 single base substitution C T downstream_gene_variant UCEC-US 1 145578428 145578428 single base substitution C T exon_variant UCEC-US 1 145578428 145578428 single base substitution C T missense_variant P122S 364C>T UCEC-US 1 145578428 145578428 single base substitution C T missense_variant P131S 391C>T UCEC-US 1 145578428 145578428 single base substitution C T missense_variant P96S 286C>T UCEC-US 1 145578428 145578428 single base substitution C T upstream_gene_variant UCEC-US 1 145581189 145581189 single base substitution G T downstream_gene_variant UCEC-US 1 145581189 145581189 single base substitution G T exon_variant UCEC-US 1 145581189 145581189 single base substitution G T missense_variant E271D 813G>T UCEC-US 1 145581189 145581189 single base substitution G T missense_variant E306D 918G>T UCEC-US 1 145581189 145581189 single base substitution G T upstream_gene_variant UCEC-US 1 145581235 145581235 single base substitution C T downstream_gene_variant UCEC-US 1 145581235 145581235 single base substitution C T exon_variant UCEC-US 1 145581235 145581235 single base substitution C T missense_variant R287W 859C>T UCEC-US 1 145581235 145581235 single base substitution C T missense_variant R322W 964C>T UCEC-US 1 145581235 145581235 single base substitution C T upstream_gene_variant UCEC-US 1 145581451 145581451 single base substitution C A downstream_gene_variant UCEC-US 1 145581451 145581451 single base substitution C A exon_variant UCEC-US 1 145581451 145581451 single base substitution C A synonymous_variant A309A 927C>A UCEC-US 1 145581451 145581451 single base substitution C A synonymous_variant A344A 1032C>A UCEC-US 1 145581451 145581451 single base substitution C A upstream_gene_variant UCEC-US 1 145584028 145584028 single base substitution C T downstream_gene_variant UCEC-US 1 145584028 145584028 single base substitution C T exon_variant UCEC-US 1 145584028 145584028 single base substitution C T missense_variant P385L 1154C>T UCEC-US 1 145584028 145584028 single base substitution C T missense_variant P420L 1259C>T UCEC-US 1 145584141 145584141 single base substitution G T downstream_gene_variant UCEC-US 1 145584141 145584141 single base substitution G T exon_variant UCEC-US 1 145584141 145584141 single base substitution G T missense_variant S396I 1187G>T UCEC-US 1 145584141 145584141 single base substitution G T missense_variant S431I 1292G>T UCEC-US 1 145584504 145584504 single base substitution C T downstream_gene_variant UCEC-US 1 145584504 145584504 single base substitution C T exon_variant UCEC-US 1 145584504 145584504 single base substitution C T missense_variant P456S 1366C>T UCEC-US 1 145584504 145584504 single base substitution C T missense_variant P491S 1471C>T UCEC-US 1 145585428 145585428 single base substitution A T downstream_gene_variant UCEC-US 1 145585428 145585428 single base substitution A T exon_variant UCEC-US 1 145585428 145585428 single base substitution A T missense_variant T530S 1588A>T UCEC-US 1 145585428 145585428 single base substitution A T missense_variant T565S 1693A>T UCEC-US 1 145585509 145585509 single base substitution C A downstream_gene_variant UCEC-US 1 145585509 145585509 single base substitution C A exon_variant UCEC-US 1 145585509 145585509 single base substitution C A missense_variant R557S 1669C>A UCEC-US 1 145585509 145585509 single base substitution C A missense_variant R592S 1774C>A UCEC-US 1 145588452 145588452 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand Pat_65_A COSM5843468 c.622delC p.N210fs*68 Deletion - Frameshift 1:145855783-145855783 + Pat_24_A COSM5843468 c.622delC p.N210fs*68 Deletion - Frameshift 1:145855783-145855783 + 587376 COSM1220521 c.458A>C p.Q153P Substitution - Missense LS411 COSM2121103 c.1253_1254insC p.P421fs*22 Insertion - Frameshift 1:145851045-145851046 + HCC168T COSM3704931 c.1381C>G p.L461V Substitution - Missense STC232 COSM5052503 c.719G>A p.R240H Substitution - Missense TCGA-AN-A0FL-01 COSM5101821 c.1797_1798insG p.A602fs*>28 Insertion - Frameshift 1:145849535-145849536 + PCSI_0083_Pa_P_526 COSM3376689 c.375T>C p.P125P Substitution - coding silent 1:145856656-145856656 - TCGA-A5-A0GP-01 COSM895213 c.918G>T p.E306D Substitution - Missense 1:145853879-145853879 - PT49 COSM5934383 c.196C>T p.P66S Substitution - Missense 1:145856835-145856835 - TCGA-A2-A0T5-01 COSM3801658 c.436A>C p.T146P Substitution - Missense 1:145856595-145856595 - TCGA-HU-A4GT-01 COSM4021780 c.606C>A p.P202P Substitution - coding silent 1:145855799-145855799 - TCGA-GC-A3WC-01 COSM3788602 c.1606C>A p.Q536K Substitution - Missense 1:145850246-145850246 - TCGA-AP-A0LM-01 COSM895220 c.1292G>T p.S431I Substitution - Missense LUAD-S01409 COSM346536 c.1466A>T p.H489L Substitution - Missense 1:145850569-145850569 - S00946 COSM314141 c.318G>T p.L106L Substitution - coding silent 1:145856713-145856713 - TCGA-AA-3510-01 COSM1333603 c.305C>T p.A102V Substitution - Missense 1:145856726-145856726 - BD124T COSM5494325 c.348delC p.P118fs*12 Deletion - Frameshift 1:145856683-145856683 - TCGA-IR-A3LA-01 COSM458632 c.1378G>A p.D460N Substitution - Missense TCGA-IR-A3LA-01 COSM4845272 c.633C>G p.L211L Substitution - coding silent 1:145855772-145855772 - 001 COSM1161936 c.524C>G p.S175C Substitution - Missense ESO-120 COSM1262159 c.270T>A p.P90P Substitution - coding silent 1:145856761-145856761 - ESCC-112T COSM3934064 c.289C>T p.P97S Substitution - Missense TCGA-BR-8368-01 COSM4021787 c.1260G>A p.P420P Substitution - coding silent 1:145851039-145851039 - EV001-M2b COSM1161936 c.524C>G p.S175C Substitution - Missense TCGA-D1-A17Q-01 COSM895213 c.918G>T p.E306D Substitution - Missense 1:145853879-145853879 - TCGA-EE-A29C-06 COSM1239833 c.798C>T p.F266F Substitution - coding silent TCGA-AP-A059-01 COSM895225 c.1693A>T p.T565S Substitution - Missense 1:145849640-145849640 - sysucc-882T COSM5446902 c.24+7G>C p.? Unknown 1:145858960-145858960 - TCGA-AX-A0J1-01 COSM895211 c.391C>T p.P131S Substitution - Missense 1:145856640-145856640 - ESO-0292 COSM1241579 c.883C>T p.R295W Substitution - Missense LUAD-S01467 COSM399387 c.44G>A p.R15Q Substitution - Missense 1:145856987-145856987 - PCSI_0083_Pa_P COSM3376688 c.375T>C p.P125P Substitution - coding silent CSCC-5-T COSM4504381 c.663C>T p.P221P Substitution - coding silent 1:145855742-145855742 - 29T COSM3711129 c.1657C>A p.Q553K Substitution - Missense 1:145849676-145849676 - HCC168 COSM3704932 c.1381C>G p.L461V Substitution - Missense 1:145850838-145850838 - S02249 COSM5679937 c.1040A>G p.Q347R Substitution - Missense 1:145853609-145853609 + 001 COSM1161937 c.524C>G p.S175C Substitution - Missense 1:145856350-145856350 - ESCC-112T COSM3934065 c.289C>T p.P97S Substitution - Missense 1:145856742-145856742 - EV001-M1 COSM1161936 c.524C>G p.S175C Substitution - Missense ESO-859 COSM1239834 c.798C>T p.F266F Substitution - coding silent 1:145854752-145854752 - EV001-M1 COSM1161937 c.524C>G p.S175C Substitution - Missense 1:145856350-145856350 - TCGA-HJ-7597-01 COSM4021771 c.82C>T p.R28W Substitution - Missense 1:145856949-145856949 - ASHPC_0026_Pa_P COSM4807317 c.427C>G p.R143G Substitution - Missense TCGA-AA-3510-01 COSM1333602 c.305C>T p.A102V Substitution - Missense TCGA-FV-A496-01 COSM4939061 c.1797T>G p.P599P Substitution - coding silent 1:145849536-145849536 - TCGA-66-2785-01 COSM674787 c.426C>G p.I142M Substitution - Missense TCGA-18-3409-01 COSM674786 c.668C>T p.P223L Substitution - Missense 1:145855737-145855737 - 587350 COSM1180694 c.1798delG p.A602fs*2 Deletion - Frameshift 1:145849535-145849535 - ESO-120 COSM1262158 c.270T>A p.P90P Substitution - coding silent CSCC-18-T COSM4484512 c.281C>T p.A94V Substitution - Missense 1:145856750-145856750 - Au4 COSM5604487 c.1162C>T p.L388F Substitution - Missense 1:145851137-145851137 - Pat_24_B COSM5843472 c.1165_1166delAG p.S389fs*6 Deletion - Frameshift 1:145851133-145851134 + PT49 COSM5934382 c.196C>T p.P66S Substitution - Missense TCGA-G4-6628-01 COSM1333611 c.1546T>A p.Y516N Substitution - Missense 1:145850489-145850489 - ESO-0950 COSM1262156 c.435C>T p.T145T Substitution - coding silent TCGA-EE-A181-06 COSM3473149 c.813C>T p.S271S Substitution - coding silent T3145 COSM4714264 c.1658A>C p.Q553P Substitution - Missense 46M COSM5588642 c.1751C>T p.A584V Substitution - Missense 1:145849582-145849582 - TCGA-66-2785-01 COSM674788 c.426C>G p.I142M Substitution - Missense 1:145856605-145856605 - TCGA-BR-8363-01 COSM4021777 c.428G>A p.R143Q Substitution - Missense 1:145856603-145856603 - TCGA-D1-A17Q-01 COSM895212 c.918G>T p.E306D Substitution - Missense PT49 COSM5934379 c.197C>T p.P66L Substitution - Missense HCC168T COSM3704932 c.1381C>G p.L461V Substitution - Missense 1:145850838-145850838 - 587350 COSM1180693 c.1798delG p.A602fs*2 Deletion - Frameshift 587278 COSM1220520 c.1759G>A p.A587T Substitution - Missense 1:145849574-145849574 - 8014187 COSM3385131 c.1047C>T p.F349F Substitution - coding silent YUKAT COSM5377508 c.402C>T p.F134F Substitution - coding silent 1:145856629-145856629 - CSCC-5-T COSM4504380 c.663C>T p.P221P Substitution - coding silent TCGA-EE-A29E-06 COSM3473154 c.1598C>T p.S533L Substitution - Missense 1:145850254-145850254 - YUKAT COSM5377507 c.402C>T p.F134F Substitution - coding silent TCGA-IR-A3LA-01 COSM458633 c.1378G>A p.D460N Substitution - Missense 1:145850841-145850841 - ESO-0292 COSM1241580 c.883C>T p.R295W Substitution - Missense 1:145854485-145854485 - TCGA-AD-6889-01 COSM1333604 c.438C>T p.T146T Substitution - coding silent TCGA-EL-A3CT-01 COSM3369257 c.1494T>A p.P498P Substitution - coding silent TCGA-D3-A3C6-06 COSM3473143 c.285C>A p.P95P Substitution - coding silent SNU-C4 COSM4651941 c.697G>A p.A233T Substitution - Missense CSCC-55-T COSM4468235 c.1533C>T p.L511L Substitution - coding silent 1:145850502-145850502 - RK026_C01 COSM1626384 c.1145+7C>T p.? Unknown CSCC-44-T COSM4569295 c.1649T>G p.L550R Substitution - Missense EV001-M2a COSM1161937 c.524C>G p.S175C Substitution - Missense 1:145856350-145856350 - CSCC-27-T COSM4465511 c.1387C>T p.P463S Substitution - Missense 1:145850832-145850832 - CSCC-49-T COSM4473337 c.1843C>T p.P615S Substitution - Missense 1:145849490-145849490 - TCGA-FS-A1ZA-06 COSM3473145 c.499C>T p.Q167* Substitution - Nonsense TCGA-AD-6889-01 COSM1333608 c.949G>A p.A317T Substitution - Missense CSCC-31-T COSM4530362 c.1692G>A p.G564G Substitution - coding silent 1:145849641-145849641 - CSCC-44-T COSM4569296 c.1649T>G p.L550R Substitution - Missense 1:145849684-145849684 - CSCC-41-T COSM4473352 c.1844C>T p.P615L Substitution - Missense TCGA-EE-A181-06 COSM3473150 c.813C>T p.S271S Substitution - coding silent 1:145854555-145854555 - Pat_24_B COSM5843471 c.1165_1166delAG p.S389fs*6 Deletion - Frameshift 1:145851133-145851134 + Au4 COSM5604486 c.1162C>T p.L388F Substitution - Missense PT35 COSM5911468 c.1475C>T p.S492F Substitution - Missense 1:145850560-145850560 - YUKAT COSM5377511 c.1426C>T p.P476S Substitution - Missense 1:145850793-145850793 - TCGA-BR-A4QL-01 COSM4021784 c.936T>C p.P312P Substitution - coding silent TCGA-ER-A19P-06 COSM3473148 c.649G>T p.G217W Substitution - Missense 1:145855756-145855756 - TCGA-D1-A17U-01 COSM895218 c.1259C>T p.P420L Substitution - Missense HCC168 COSM3704931 c.1381C>G p.L461V Substitution - Missense TCGA-AP-A0LG-01 COSM895227 c.1774C>A p.R592S Substitution - Missense 1:145849559-145849559 - VCB-PH-05T COSM4770662 c.668C>A p.P223Q Substitution - Missense 1:145855737-145855737 - TCGA-EL-A3CT-01 COSM3369258 c.1494T>A p.P498P Substitution - coding silent 1:145850541-145850541 - TCGA-J7-6720-01 COSM3984173 c.545C>T p.A182V Substitution - Missense 1:145856101-145856101 - TCGA-D5-5539-01 COSM1333613 c.1775G>A p.R592H Substitution - Missense 1:145849558-145849558 - CSCC-41-T COSM4473353 c.1844C>T p.P615L Substitution - Missense 1:145849489-145849489 - TCGA-AZ-6601-01 COSM1333615 c.1862G>A p.R621Q Substitution - Missense 1:145849471-145849471 - SE4 COSM1165874 c.187C>T p.R63* Substitution - Nonsense CSCC-27-T COSM4503126 c.631C>T p.L211F Substitution - Missense TCGA-EE-A2MJ-06 COSM3473156 c.1872C>T p.I624I Substitution - coding silent 1:145849461-145849461 - TCGA-A2-A0T5-01 COSM3801661 c.1703A>C p.H568P Substitution - Missense 1:145849630-145849630 - 40M COSM205591 c.427C>T p.R143W Substitution - Missense 1:145856604-145856604 - TCGA-AN-A0FL-01 COSM5101820 c.1797_1798insG p.A602fs*>28 Insertion - Frameshift 1:145849535-145849536 + YUZINO COSM1688466 c.257C>T p.P86L Substitution - Missense T263 COSM4714267 c.1716A>G p.P572P Substitution - coding silent 1:145849617-145849617 - LS411 COSM2121102 c.1253_1254insC p.P421fs*22 Insertion - Frameshift 1:145851045-145851046 + RMS112_ COSM4987737 c.290C>T p.P97L Substitution - Missense STC232 COSM5052504 c.719G>A p.R240H Substitution - Missense 1:145854831-145854831 - YUZINO COSM1688467 c.257C>T p.P86L Substitution - Missense 1:145856774-145856774 - TCGA-BR-4255-01 COSM4021788 c.1483C>T p.L495L Substitution - coding silent TCGA-AD-6889-01 COSM1333605 c.438C>T p.T146T Substitution - coding silent 1:145856593-145856593 - TCGA-BR-4257-01 COSM4021782 c.820G>A p.V274M Substitution - Missense TCGA-AP-A0LM-01 COSM895221 c.1292G>T p.S431I Substitution - Missense 1:145850927-145850927 - PCSI_0083_Pa_X COSM3376689 c.375T>C p.P125P Substitution - coding silent 1:145856656-145856656 - CSCC-10-T COSM4506672 c.726C>T p.I242I Substitution - coding silent TCGA-EE-A29L-06 COSM3473152 c.1071G>A p.M357I Substitution - Missense 1:145853578-145853578 - TCGA-D3-A3C6-06 COSM3473144 c.285C>A p.P95P Substitution - coding silent 1:145856746-145856746 - PT40 COSM5923541 c.1739C>T p.S580F Substitution - Missense TCGA-BR-8368-01 COSM4021786 c.1260G>A p.P420P Substitution - coding silent 108394 COSM96119 c.1710G>C p.L570L Substitution - coding silent 1:145849623-145849623 - TCGA-G4-6588-01 COSM1333607 c.660delC p.L222fs*56 Deletion - Frameshift 1:145855745-145855745 - CSCC-49-T COSM4473336 c.1843C>T p.P615S Substitution - Missense TCGA-EE-A2MS-06 COSM3473142 c.165G>A p.M55I Substitution - Missense 1:145856866-145856866 - TCGA-EJ-5519-01 COSM1127407 c.724A>G p.I242V Substitution - Missense TCGA-EL-A3MZ-01 COSM3369256 c.404A>G p.Y135C Substitution - Missense 1:145856627-145856627 - PT49 COSM5934380 c.197C>T p.P66L Substitution - Missense 1:145856834-145856834 - T263 COSM4714266 c.1716A>G p.P572P Substitution - coding silent OSCC-GB_00290111 COSM3711129 c.1657C>A p.Q553K Substitution - Missense 1:145849676-145849676 - TCGA-HU-A4GT-01 COSM4021779 c.606C>A p.P202P Substitution - coding silent TCGA-A5-A0GP-01 COSM895212 c.918G>T p.E306D Substitution - Missense CSCC-27-T COSM4465510 c.1387C>T p.P463S Substitution - Missense CSCC-55-T COSM4468234 c.1533C>T p.L511L Substitution - coding silent S02249 COSM5679936 c.1040A>G p.Q347R Substitution - Missense 1:145853609-145853609 + TCGA-EE-A2MS-06 COSM3473141 c.165G>A p.M55I Substitution - Missense PT40 COSM5923542 c.1739C>T p.S580F Substitution - Missense 1:145849594-145849594 - LUAD-B01145 COSM333335 c.522A>G p.T174T Substitution - coding silent 1:145856352-145856352 - Pat_66_A COSM5843469 c.622delC p.N210fs*68 Deletion - Frameshift 1:145855783-145855783 + 587278 COSM1220519 c.1759G>A p.A587T Substitution - Missense PD7248a COSM5792019 c.162G>A p.Q54Q Substitution - coding silent 1:145856869-145856869 + LUAD-AEIUF COSM392923 c.18A>G p.E6E Substitution - coding silent TCGA-GC-A3WC-01 COSM3788601 c.1606C>A p.Q536K Substitution - Missense Pat_65_A COSM5843469 c.622delC p.N210fs*68 Deletion - Frameshift 1:145855783-145855783 + TCGA-BR-8360-01 COSM4021774 c.213G>A p.G71G Substitution - coding silent 1:145856818-145856818 - 2521243 COSM2121076 c.331C>T p.R111C Substitution - Missense TCGA-D5-5539-01 COSM1333612 c.1775G>A p.R592H Substitution - Missense OSCC-GB_00290111 COSM3711128 c.1657C>A p.Q553K Substitution - Missense CSCC-27-T COSM4503127 c.631C>T p.L211F Substitution - Missense 1:145855774-145855774 - RK065_C01 COSM1626386 c.1622A>T p.H541L Substitution - Missense TCGA-AA-A01K-01 COSM301539 c.946_947GT>AC p.V316T Substitution - Missense 1:145853850-145853851 - sysucc-882T COSM5446901 c.24+7G>C p.? Unknown PT35 COSM5911467 c.1475C>T p.S492F Substitution - Missense BD124T COSM5494324 c.348delC p.P118fs*12 Deletion - Frameshift EV001-M2b COSM1161937 c.524C>G p.S175C Substitution - Missense 1:145856350-145856350 - PCSI_0083_Pa_P_526 COSM3376688 c.375T>C p.P125P Substitution - coding silent Pat_66_A COSM5843468 c.622delC p.N210fs*68 Deletion - Frameshift 1:145855783-145855783 + TCGA-A2-A0T5-01 COSM3801660 c.1703A>C p.H568P Substitution - Missense TCGA-FS-A1ZA-06 COSM3473146 c.499C>T p.Q167* Substitution - Nonsense 1:145856375-145856375 - ML_59_T_01 COSM5034228 c.1222A>G p.M408V Substitution - Missense 1:145851077-145851077 - T3064 COSM2121125 c.1728G>A p.T576T Substitution - coding silent 1:145849605-145849605 - TCGA-EE-A29L-06 COSM3473151 c.1071G>A p.M357I Substitution - Missense 46M COSM5588641 c.1751C>T p.A584V Substitution - Missense TCGA-EE-A29E-06 COSM3473153 c.1598C>T p.S533L Substitution - Missense TCGA-18-3414-01 COSM674783 c.818C>G p.S273C Substitution - Missense RK026_C01 COSM1626385 c.1145+7C>T p.? Unknown 1:145853497-145853497 - TCGA-J7-6720-01 COSM3984172 c.545C>T p.A182V Substitution - Missense TCGA-DU-5872-01 COSM3965781 c.1702C>G p.H568D Substitution - Missense TCGA-B5-A0K9-01 COSM895216 c.1032C>A p.A344A Substitution - coding silent RK065_C01 COSM1626387 c.1622A>T p.H541L Substitution - Missense 1:145849711-145849711 - TCGA-AA-A01S-01 COSM300197 c.1506G>A p.T502T Substitution - coding silent 1:145850529-145850529 - 40M COSM5114053 c.427C>T p.R143W Substitution - Missense TCGA-BP-5192-01 COSM462857 c.1136T>C p.I379T Substitution - Missense 1:145853513-145853513 - 8014187 COSM3385132 c.1047C>T p.F349F Substitution - coding silent 1:145853602-145853602 - SWE-4A COSM1179464 c.642G>A p.K214K Substitution - coding silent 1:145855763-145855763 - SNU-C4 COSM4651942 c.697G>A p.A233T Substitution - Missense 1:145854853-145854853 - ML_59_T_01 COSM5034227 c.1222A>G p.M408V Substitution - Missense TCGA-IR-A3LA-01 COSM4845271 c.633C>G p.L211L Substitution - coding silent T3118 COSM4714263 c.1302delG p.G436fs*15 Deletion - Frameshift 1:145850917-145850917 - TCGA-AP-A0LG-01 COSM895226 c.1774C>A p.R592S Substitution - Missense TCGA-ER-A19P-06 COSM3473147 c.649G>T p.G217W Substitution - Missense PCSI_0083_Pa_X COSM3376688 c.375T>C p.P125P Substitution - coding silent TCGA-B5-A0K9-01 COSM895217 c.1032C>A p.A344A Substitution - coding silent 1:145853617-145853617 - ASHPC_0026_Pa_P COSM4807318 c.427C>G p.R143G Substitution - Missense 1:145856604-145856604 - TCGA-BR-A4QL-01 COSM4021785 c.936T>C p.P312P Substitution - coding silent 1:145853861-145853861 - VCB-PH-05T COSM4770661 c.668C>A p.P223Q Substitution - Missense TCGA-18-3409-01 COSM674785 c.668C>T p.P223L Substitution - Missense TCGA-AD-6889-01 COSM1333609 c.949G>A p.A317T Substitution - Missense 1:145853848-145853848 - TCGA-BG-A0LW-01 COSM895215 c.964C>T p.R322W Substitution - Missense 1:145853833-145853833 - TCGA-BP-5192-01 COSM462856 c.1136T>C p.I379T Substitution - Missense SWE-4A COSM1179463 c.642G>A p.K214K Substitution - coding silent WA47 COSM241134 c.442+1G>A p.? Unknown 1:145856588-145856588 - TCGA-DR-A0ZM-01 COSM458632 c.1378G>A p.D460N Substitution - Missense ESCC-112T COSM3934067 c.588C>G p.L196L Substitution - coding silent Sample_1 COSM4021786 c.1260G>A p.P420P Substitution - coding silent TCGA-BR-4255-01 COSM4021789 c.1483C>T p.L495L Substitution - coding silent 1:145850552-145850552 - TCGA-AP-A059-01 COSM895224 c.1693A>T p.T565S Substitution - Missense TCGA-AP-A051-01 COSM895223 c.1471C>T p.P491S Substitution - Missense 1:145850564-145850564 - ESO-0950 COSM1262157 c.435C>T p.T145T Substitution - coding silent 1:145856596-145856596 - TCGA-AX-A0J1-01 COSM895210 c.391C>T p.P131S Substitution - Missense T3064 COSM2121124 c.1728G>A p.T576T Substitution - coding silent Pat_24_A COSM5843469 c.622delC p.N210fs*68 Deletion - Frameshift 1:145855783-145855783 + TCGA-BG-A0LW-01 COSM895214 c.964C>T p.R322W Substitution - Missense Sample_1 COSM4021787 c.1260G>A p.P420P Substitution - coding silent 1:145851039-145851039 - TCGA-D1-A17U-01 COSM895219 c.1259C>T p.P420L Substitution - Missense 1:145851040-145851040 - T3118 COSM4714262 c.1302delG p.G436fs*15 Deletion - Frameshift TCGA-BR-8360-01 COSM4021773 c.213G>A p.G71G Substitution - coding silent TCGA-HJ-7597-01 COSM4021770 c.82C>T p.R28W Substitution - Missense TCGA-A2-A0T5-01 COSM3801657 c.436A>C p.T146P Substitution - Missense TCGA-06-0743-01 COSM3399671 c.1529G>A p.S510N Substitution - Missense 1:145850506-145850506 - EV001-M2a COSM1161936 c.524C>G p.S175C Substitution - Missense TCGA-DR-A0ZM-01 COSM458633 c.1378G>A p.D460N Substitution - Missense 1:145850841-145850841 - TCGA-EJ-7125-01 COSM3671381 c.44G>T p.R15L Substitution - Missense 1:145856987-145856987 - TCGA-AP-A051-01 COSM895222 c.1471C>T p.P491S Substitution - Missense TCGA-AZ-6601-01 COSM1333614 c.1862G>A p.R621Q Substitution - Missense TCGA-EL-A3MZ-01 COSM3369255 c.404A>G p.Y135C Substitution - Missense T3145 COSM4714265 c.1658A>C p.Q553P Substitution - Missense 1:145849675-145849675 - PD7248a COSM5792018 c.162G>A p.Q54Q Substitution - coding silent 1:145856869-145856869 + ESO-859 COSM1239833 c.798C>T p.F266F Substitution - coding silent CSCC-31-T COSM4530361 c.1692G>A p.G564G Substitution - coding silent TCGA-EJ-7125-01 COSM3671380 c.44G>T p.R15L Substitution - Missense TCGA-EE-A2MJ-06 COSM3473155 c.1872C>T p.I624I Substitution - coding silent RMS112_ COSM4987738 c.290C>T p.P97L Substitution - Missense 1:145856741-145856741 - TCGA-18-3414-01 COSM674784 c.818C>G p.S273C Substitution - Missense 1:145854550-145854550 - PCSI_0083_Pa_P COSM3376689 c.375T>C p.P125P Substitution - coding silent 1:145856656-145856656 - SE4 COSM1165875 c.187C>T p.R63* Substitution - Nonsense 1:145856844-145856844 - TCGA-G4-6588-01 COSM1333606 c.660delC p.L222fs*56 Deletion - Frameshift TCGA-BR-8363-01 COSM4021776 c.428G>A p.R143Q Substitution - Missense TCGA-EE-A29C-06 COSM1239834 c.798C>T p.F266F Substitution - coding silent 1:145854752-145854752 - TCGA-06-0743-01 COSM3399670 c.1529G>A p.S510N Substitution - Missense TCGA-EJ-5519-01 COSM1127409 c.724A>G p.I242V Substitution - Missense 1:145854826-145854826 - TCGA-G4-6628-01 COSM1333610 c.1546T>A p.Y516N Substitution - Missense CSCC-10-T COSM4506673 c.726C>T p.I242I Substitution - coding silent 1:145854824-145854824 - 2521243 COSM2121077 c.331C>T p.R111C Substitution - Missense 1:145856700-145856700 - TCGA-DU-5872-01 COSM3965782 c.1702C>G p.H568D Substitution - Missense 1:145849631-145849631 - TCGA-BR-4257-01 COSM4021783 c.820G>A p.V274M Substitution - Missense 1:145854548-145854548 - YUKAT COSM5377510 c.1426C>T p.P476S Substitution - Missense 587376 COSM1220522 c.458A>C p.Q153P Substitution - Missense 1:145856416-145856416 - CSCC-18-T COSM4484511 c.281C>T p.A94V Substitution - Missense ESCC-112T COSM3934068 c.588C>G p.L196L Substitution - coding silent 1:145855817-145855817 - 29T COSM3711128 c.1657C>A p.Q553K Substitution - Missense TCGA-FV-A496-01 COSM4939060 c.1797T>G p.P599P Substitution - coding silent

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.435761 1q21 605987 2397673|CGAP|BC001154|G/T|non-coding||2703|Candidate; 2397673|CGAP|BC030556|G/T|non-coding||2714|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.I242V c.724A>G 1 145580242 PRAD A G Missense p.I379V c.1135A>G 1 145581554 HNSC A G Missense p.Y135C c.404A>G 1 145578441 THCA A G Synonymous p.K288K c.864A>G 1 145580564 LUAD C A Missense p.P209H c.626C>A 1 145579289 LUAD C A Missense p.R592S c.1774C>A 1 145585509 UCEC C A Synonymous p.A344A c.1032C>A 1 145581451 UCEC C A Synonymous p.P95P c.285C>A 1 145578322 CM C G Missense p.A352G c.1055C>G 1 145581474 HNSC C G Missense p.H568D c.1702C>G 1 145585437 LGG C G Missense p.S273C c.818C>G 1 145580518 LUSC C G Synonymous p.V215V c.645C>G 1 145579308 STAD C T IntronicSNV . c.443-45C>T 1 145578592 BRCA C T Missense p.P166S c.496C>T 1 145578690 LUAD C T Missense p.P420L c.1259C>T 1 145584028 UCEC C T Missense p.P438S c.1312C>T 1 145584161 CM C T Missense p.R322W c.964C>T 1 145581235 UCEC C T Nonsense p.Q167* c.499C>T 1 145578693 CM C T Synonymous p.A477A c.1431C>T 1 145584280 CM C T Synonymous p.F266F c.798C>T 1 145580316 CM C T Synonymous p.I624I c.1872C>T 1 145585607 CM C T Synonymous p.L495L c.1483C>T 1 145584516 STAD C T Synonymous p.S271S c.813C>T 1 145580513 CM G A Missense p.M357I c.1071G>A 1 145581490 CM G A Missense p.M55I c.165G>A 1 145578202 CM G A Missense p.R64H c.191G>A 1 145578228 COREAD G A Missense p.S510N c.1529G>A 1 145584562 GBM G A Missense p.V274M c.820G>A 1 145580520 STAD G A Synonymous p.T502T c.1506G>A 1 145584539 COREAD GC TT Missense p.Q347* c.1038_1039delinsTT 1 145581457 HNSC - G Frameshift p.A602Gfs*42 c.1804dupG 1 145585533 LUAD GT AC Missense p.V316T c.946_947delinsAC 1 145581217 COREAD G T Missense p.E306D c.918G>T 1 145581189 UCEC G T Missense p.G104C c.310G>T 1 145578347 LUAD G T Missense p.G217W c.649G>T 1 145579312 CM G T Missense p.G71W c.211G>T 1 145578248 LUAD G T Synonymous p.L106L c.318G>T 1 145578355 SCLC T A Synonymous p.P90P c.270T>A 1 145578307 ESCA T C IntronicSNV . c.805-68T>C 1 145580437 CM T C Synonymous p.N261N c.783T>C 1 145580301 LUAD - T IntronicInsertion . c.669+252dupT 1 145579573 CM