Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 5 108680459 108680459 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 g.chr5:108680459C>G c.1826G>C c.(1825-1827)aGt>aCt p.S609T BLCA 5 108680496 108680496 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr5:108680496G>C c.1789C>G c.(1789-1791)Ctt>Gtt p.L597V BLCA 5 108691666 108691666 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr5:108691666G>C c.1714C>G c.(1714-1716)Cag>Gag p.Q572E BLCA 5 108714059 108714059 + Missense_Mutation SNP C C G TCGA-XF-AAN3-01A-11D-A42E-08 TCGA-XF-AAN3-10A-01D-A42H-08 g.chr5:108714059C>G c.1129G>C c.(1129-1131)Gat>Cat p.D377H BRCA 5 108691698 108691698 + Missense_Mutation SNP C C T TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr5:108691698C>T c.1682G>A c.(1681-1683)gGa>gAa p.G561E BRCA 5 108704338 108704338 + Missense_Mutation SNP C C G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 g.chr5:108704338C>G c.1393G>C c.(1393-1395)Gat>Cat p.D465H BRCA 5 108714080 108714080 + Missense_Mutation SNP C C T TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 g.chr5:108714080C>T c.1108G>A c.(1108-1110)Gag>Aag p.E370K BRCA 5 108714379 108714379 + Missense_Mutation SNP T T A TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 g.chr5:108714379T>A c.809A>T c.(808-810)cAa>cTa p.Q270L BRCA 5 108714508 108714508 + Missense_Mutation SNP C C T TCGA-AC-A2B8-01A-11D-A17D-09 TCGA-AC-A2B8-10A-01D-A17D-09 g.chr5:108714508C>T c.680G>A c.(679-681)aGa>aAa p.R227K CESC 5 108698712 108698712 + Missense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr5:108698712G>A c.1481C>T c.(1480-1482)tCc>tTc p.S494F CESC 5 108698717 108698717 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr5:108698717C>G c.1476G>C c.(1474-1476)caG>caC p.Q492H CESC 5 108704312 108704312 + Silent SNP A A G TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 g.chr5:108704312A>G c.1419T>C c.(1417-1419)agT>agC p.S473S CESC 5 108714347 108714347 + Missense_Mutation SNP G G T TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 g.chr5:108714347G>T c.841C>A c.(841-843)Cat>Aat p.H281N CHOL 5 108714025 108714025 + Missense_Mutation SNP T T G TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr5:108714025T>G c.1163A>C c.(1162-1164)gAa>gCa p.E388A COAD 5 108672990 108672990 + Missense_Mutation SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr5:108672990G>A c.2069C>T c.(2068-2070)tCc>tTc p.S690F COAD 5 108680500 108680500 + Missense_Mutation SNP C C G TCGA-AZ-4323-01A-21D-1835-10 TCGA-AZ-4323-10A-01D-1835-10 g.chr5:108680500C>G c.1785G>C c.(1783-1785)gaG>gaC p.E595D COAD 5 108691616 108691616 + Splice_Site SNP C C A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr5:108691616C>A c.1764G>T c.(1762-1764)gaG>gaT p.E588D COAD 5 108714257 108714257 + Missense_Mutation SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr5:108714257C>T c.931G>A c.(931-933)Gaa>Aaa p.E311K COAD 5 108714627 108714627 + Silent SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:108714627G>A c.561C>T c.(559-561)gtC>gtT p.V187V COAD 5 108714956 108714956 + Splice_Site SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:108714956C>T c.e4-1 COAD 5 108717298 108717298 + Silent SNP T T C TCGA-D5-5538-01A-01D-1650-10 TCGA-D5-5538-10A-02D-1650-10 g.chr5:108717298T>C c.138A>G c.(136-138)aaA>aaG p.K46K COADREAD 5 108672990 108672990 + Missense_Mutation SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr5:108672990G>A c.2069C>T c.(2068-2070)tCc>tTc p.S690F COADREAD 5 108679941 108679941 + Missense_Mutation SNP G G C TCGA-AG-A02X-01A-01W-A00E-09 TCGA-AG-A02X-10A-01W-A00E-09 g.chr5:108679941G>C c.1951C>G c.(1951-1953)Ccc>Gcc p.P651A COADREAD 5 108680500 108680500 + Missense_Mutation SNP C C G TCGA-AZ-4323-01A-21D-1835-10 TCGA-AZ-4323-10A-01D-1835-10 g.chr5:108680500C>G c.1785G>C c.(1783-1785)gaG>gaC p.E595D COADREAD 5 108691616 108691616 + Splice_Site SNP C C A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr5:108691616C>A c.1764G>T c.(1762-1764)gaG>gaT p.E588D COADREAD 5 108714257 108714257 + Missense_Mutation SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr5:108714257C>T c.931G>A c.(931-933)Gaa>Aaa p.E311K COADREAD 5 108714627 108714627 + Silent SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:108714627G>A c.561C>T c.(559-561)gtC>gtT p.V187V COADREAD 5 108714666 108714666 + Silent SNP A A G TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr5:108714666A>G c.522T>C c.(520-522)caT>caC p.H174H COADREAD 5 108714956 108714956 + Splice_Site SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:108714956C>T c.e4-1 COADREAD 5 108717298 108717298 + Silent SNP T T C TCGA-D5-5538-01A-01D-1650-10 TCGA-D5-5538-10A-02D-1650-10 g.chr5:108717298T>C c.138A>G c.(136-138)aaA>aaG p.K46K ESCA 5 108691648 108691648 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr5:108691648C>T c.1732G>A c.(1732-1734)Gca>Aca p.A578T ESCA 5 108704338 108704338 + Missense_Mutation SNP C C A TCGA-S8-A6BV-01A-21D-A31U-09 TCGA-S8-A6BV-10A-01D-A31U-09 g.chr5:108704338C>A c.1393G>T c.(1393-1395)Gat>Tat p.D465Y ESCA 5 108714941 108714941 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 g.chr5:108714941C>T c.247G>A c.(247-249)Gat>Aat p.D83N ESCA 5 108714946 108714946 + Missense_Mutation SNP G G C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 g.chr5:108714946G>C c.242C>G c.(241-243)cCt>cGt p.P81R GBM 5 108680493 108680493 + Missense_Mutation SNP C C A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 g.chr5:108680493C>A c.1792G>T c.(1792-1794)Gca>Tca p.A598S GBMLGG 5 108680493 108680493 + Missense_Mutation SNP C C A TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 g.chr5:108680493C>A c.1792G>T c.(1792-1794)Gca>Tca p.A598S GBMLGG 5 108714431 108714431 + Missense_Mutation SNP T T C TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 g.chr5:108714431T>C c.757A>G c.(757-759)Agc>Ggc p.S253G GBMLGG 5 108717302 108717302 + Missense_Mutation SNP A A C TCGA-HT-7609-01A-11D-2086-08 TCGA-HT-7609-10A-01D-2086-08 g.chr5:108717302A>C c.134T>G c.(133-135)tTt>tGt p.F45C HNSC 5 108691708 108691708 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr5:108691708C>T c.1672G>A c.(1672-1674)Gat>Aat p.D558N HNSC 5 108713935 108713935 + Missense_Mutation SNP T T C TCGA-P3-A6SX-01A-11D-A34J-08 TCGA-P3-A6SX-10A-01D-A34M-08 g.chr5:108713935T>C c.1253A>G c.(1252-1254)tAt>tGt p.Y418C HNSC 5 108714181 108714181 + Missense_Mutation SNP T T C TCGA-CV-6937-01A-11D-2012-08 TCGA-CV-6937-10A-01D-2013-08 g.chr5:108714181T>C c.1007A>G c.(1006-1008)cAt>cGt p.H336R HNSC 5 108714761 108714761 + Missense_Mutation SNP C C T TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 g.chr5:108714761C>T c.427G>A c.(427-429)Gag>Aag p.E143K KICH 5 108714549 108714549 + Silent SNP A A G TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr5:108714549A>G c.639T>C c.(637-639)acT>acC p.T213T KIPAN 5 108698654 108698654 + Missense_Mutation SNP A A C TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 g.chr5:108698654A>C c.1539T>G c.(1537-1539)agT>agG p.S513R KIPAN 5 108714549 108714549 + Silent SNP A A G TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr5:108714549A>G c.639T>C c.(637-639)acT>acC p.T213T KIPAN 5 108717359 108717359 + Missense_Mutation SNP C C A TCGA-B4-5377-01A-01D-1501-10 TCGA-B4-5377-10A-01D-1501-10 g.chr5:108717359C>A c.77G>T c.(76-78)gGa>gTa p.G26V KIRC 5 108698654 108698654 + Missense_Mutation SNP A A C TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 g.chr5:108698654A>C c.1539T>G c.(1537-1539)agT>agG p.S513R KIRC 5 108717359 108717359 + Missense_Mutation SNP C C A TCGA-B4-5377-01A-01D-1501-10 TCGA-B4-5377-10A-01D-1501-10 g.chr5:108717359C>A c.77G>T c.(76-78)gGa>gTa p.G26V LGG 5 108714431 108714431 + Missense_Mutation SNP T T C TCGA-FG-A710-01A-12D-A33T-08 TCGA-FG-A710-10A-01D-A33W-08 g.chr5:108714431T>C c.757A>G c.(757-759)Agc>Ggc p.S253G LGG 5 108717302 108717302 + Missense_Mutation SNP A A C TCGA-HT-7609-01A-11D-2086-08 TCGA-HT-7609-10A-01D-2086-08 g.chr5:108717302A>C c.134T>G c.(133-135)tTt>tGt p.F45C LIHC 5 108679977 108679977 + Missense_Mutation SNP T T A TCGA-DD-AAEI-01A-11D-A40R-10 TCGA-DD-AAEI-10A-01D-A40U-10 g.chr5:108679977T>A c.1915A>T c.(1915-1917)Agt>Tgt p.S639C LIHC 5 108714271 108714271 + Missense_Mutation SNP T T C TCGA-CC-A7IF-01A-11D-A33K-10 TCGA-CC-A7IF-10A-01D-A33K-10 g.chr5:108714271T>C c.917A>G c.(916-918)cAt>cGt p.H306R LIHC 5 108714751 108714751 + Missense_Mutation SNP T T C TCGA-DD-AAE3-01A-11D-A40R-10 TCGA-DD-AAE3-10A-01D-A40U-10 g.chr5:108714751T>C c.437A>G c.(436-438)tAt>tGt p.Y146C LIHC 5 108714875 108714875 + Missense_Mutation SNP A A C TCGA-BW-A5NO-01A-11D-A27I-10 TCGA-BW-A5NO-10A-01D-A27I-10 g.chr5:108714875A>C c.313T>G c.(313-315)Tgt>Ggt p.C105G LIHC 5 108714881 108714881 + Missense_Mutation SNP G G T TCGA-MI-A75E-01A-11D-A32G-10 TCGA-MI-A75E-10A-01D-A32G-10 g.chr5:108714881G>T c.307C>A c.(307-309)Ccc>Acc p.P103T LUAD 5 108698662 108698662 + Missense_Mutation SNP T T A TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr5:108698662T>A c.1531A>T c.(1531-1533)Agc>Tgc p.S511C LUAD 5 108704378 108704378 + Silent SNP T T C TCGA-86-8673-01A-11D-2393-08 TCGA-86-8673-10A-01D-2393-08 g.chr5:108704378T>C c.1353A>G c.(1351-1353)caA>caG p.Q451Q LUAD 5 108704449 108704449 + Splice_Site SNP T T A TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 g.chr5:108704449T>A c.e5-2 LUAD 5 108713993 108713993 + Nonsense_Mutation SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr5:108713993C>A c.1195G>T c.(1195-1197)Gga>Tga p.G399* LUAD 5 108714262 108714262 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr5:108714262G>A c.926C>T c.(925-927)tCt>tTt p.S309F LUAD 5 108714367 108714367 + Missense_Mutation SNP C C A TCGA-MP-A4TK-01A-11D-A24P-08 TCGA-MP-A4TK-10A-01D-A24P-08 g.chr5:108714367C>A c.821G>T c.(820-822)aGc>aTc p.S274I LUAD 5 108714369 108714369 + Silent SNP A A G TCGA-MP-A4TK-01A-11D-A24P-08 TCGA-MP-A4TK-10A-01D-A24P-08 g.chr5:108714369A>G c.819T>C c.(817-819)acT>acC p.T273T LUAD 5 108714382 108714382 + Missense_Mutation SNP T T A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr5:108714382T>A c.806A>T c.(805-807)cAa>cTa p.Q269L LUAD 5 108714857 108714857 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr5:108714857G>C c.331C>G c.(331-333)Caa>Gaa p.Q111E LUAD 5 108717348 108717348 + Missense_Mutation SNP T T C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 g.chr5:108717348T>C c.88A>G c.(88-90)Aca>Gca p.T30A LUAD 5 108719110 108719110 + Missense_Mutation SNP G G A TCGA-62-A470-01A-11D-A24D-08 TCGA-62-A470-10A-01D-A24F-08 g.chr5:108719110G>A c.25C>T c.(25-27)Cca>Tca p.P9S LUSC 5 108714199 108714199 + Missense_Mutation SNP T T G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 g.chr5:108714199T>G c.989A>C c.(988-990)gAa>gCa p.E330A LUSC 5 108714608 108714608 + Nonsense_Mutation SNP G G A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chr5:108714608G>A c.580C>T c.(580-582)Cag>Tag p.Q194* OV 5 108717298 108717298 + Missense_Mutation SNP T T G TCGA-13-0913-01A-01W-0420-08 TCGA-13-0913-10A-01D-0399-08 g.chr5:108717298T>G c.138A>C c.(136-138)aaA>aaC p.K46N PAAD 5 108717235 108717235 + Silent SNP T T C TCGA-IB-AAUW-01A-12D-A38G-08 TCGA-IB-AAUW-10A-01D-A38J-08 g.chr5:108717235T>C c.201A>G c.(199-201)gaA>gaG p.E67E READ 5 108679941 108679941 + Missense_Mutation SNP G G C TCGA-AG-A02X-01A-01W-A00E-09 TCGA-AG-A02X-10A-01W-A00E-09 g.chr5:108679941G>C c.1951C>G c.(1951-1953)Ccc>Gcc p.P651A READ 5 108714666 108714666 + Silent SNP A A G TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr5:108714666A>G c.522T>C c.(520-522)caT>caC p.H174H SKCM 5 108672990 108672990 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr5:108672990G>A c.2069C>T c.(2068-2070)tCc>tTc p.S690F SKCM 5 108673046 108673046 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr5:108673046G>A c.2013C>T c.(2011-2013)tgC>tgT p.C671C SKCM 5 108714063 108714063 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr5:108714063G>A c.1125C>T c.(1123-1125)ttC>ttT p.F375F SKCM 5 108714072 108714072 + Missense_Mutation SNP G G C TCGA-EE-A20F-06A-21D-A196-08 TCGA-EE-A20F-10A-01D-A198-08 g.chr5:108714072G>C c.1116C>G c.(1114-1116)gaC>gaG p.D372E

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 5 108714281 108714281 single base substitution C T downstream_gene_variant BLCA-CN 5 108714281 108714281 single base substitution C T missense_variant E303K 907G>A BLCA-US 5 108680459 108680459 single base substitution C G missense_variant S609T 1826G>C BRCA-EU 5 108665842 108665842 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 108666300 108666300 single base substitution C T downstream_gene_variant BRCA-EU 5 108667825 108667825 insertion of <=200bp - A downstream_gene_variant BRCA-EU 5 108668693 108668693 single base substitution G A downstream_gene_variant BRCA-EU 5 108669831 108669831 single base substitution C T downstream_gene_variant BRCA-EU 5 108671201 108671201 single base substitution T G 3_prime_UTR_variant BRCA-EU 5 108671493 108671493 single base substitution T C 3_prime_UTR_variant BRCA-EU 5 108671793 108671793 single base substitution A C 3_prime_UTR_variant BRCA-EU 5 108673170 108673170 single base substitution A C intron_variant BRCA-EU 5 108675272 108675272 single base substitution G C intron_variant BRCA-EU 5 108676093 108676093 single base substitution C T intron_variant BRCA-EU 5 108678083 108678083 single base substitution G T intron_variant BRCA-EU 5 108678530 108678530 single base substitution T C intron_variant BRCA-EU 5 108679153 108679153 single base substitution C T intron_variant BRCA-EU 5 108682308 108682308 single base substitution C T intron_variant BRCA-EU 5 108682630 108682630 single base substitution T A intron_variant BRCA-EU 5 108683915 108683915 single base substitution G A intron_variant BRCA-EU 5 108686591 108686591 single base substitution G C intron_variant BRCA-EU 5 108686596 108686596 single base substitution C G intron_variant BRCA-EU 5 108686604 108686616 deletion of <=200bp AAATCTTTCTTCG - intron_variant BRCA-EU 5 108686889 108686889 single base substitution C G intron_variant BRCA-EU 5 108686899 108686899 single base substitution C T intron_variant BRCA-EU 5 108687594 108687594 single base substitution T G intron_variant BRCA-EU 5 108688120 108688120 single base substitution C G intron_variant BRCA-EU 5 108689694 108689694 single base substitution A T intron_variant BRCA-EU 5 108689815 108689815 single base substitution G A intron_variant BRCA-EU 5 108689842 108689842 single base substitution T C intron_variant BRCA-EU 5 108689846 108689846 single base substitution T G intron_variant BRCA-EU 5 108689910 108689910 single base substitution T C intron_variant BRCA-EU 5 108689910 108689910 single base substitution T G intron_variant BRCA-EU 5 108690005 108690005 single base substitution A C intron_variant BRCA-EU 5 108690007 108690007 single base substitution A T intron_variant BRCA-EU 5 108691262 108691268 deletion of <=200bp TAATATA - intron_variant BRCA-EU 5 108691346 108691346 single base substitution C T intron_variant BRCA-EU 5 108691520 108691520 single base substitution T C intron_variant BRCA-EU 5 108693233 108693233 single base substitution C G intron_variant BRCA-EU 5 108694361 108694361 single base substitution A C intron_variant BRCA-EU 5 108695702 108695702 single base substitution G A intron_variant BRCA-EU 5 108696173 108696173 single base substitution T G intron_variant BRCA-EU 5 108696818 108696818 single base substitution G A intron_variant BRCA-EU 5 108696875 108696875 single base substitution C T intron_variant BRCA-EU 5 108697048 108697048 single base substitution T C intron_variant BRCA-EU 5 108697520 108697520 deletion of <=200bp T - intron_variant BRCA-EU 5 108700680 108700680 single base substitution G C intron_variant BRCA-EU 5 108704068 108704068 single base substitution C T intron_variant BRCA-EU 5 108704798 108704798 single base substitution T C intron_variant BRCA-EU 5 108706854 108706854 single base substitution G C intron_variant BRCA-EU 5 108710806 108710806 single base substitution G C downstream_gene_variant BRCA-EU 5 108710806 108710806 single base substitution G C intron_variant BRCA-EU 5 108712337 108712337 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 108712337 108712337 deletion of <=200bp A - intron_variant BRCA-EU 5 108713167 108713167 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 108713167 108713167 deletion of <=200bp A - intron_variant BRCA-EU 5 108713679 108713679 single base substitution C A downstream_gene_variant BRCA-EU 5 108713679 108713679 single base substitution C A intron_variant BRCA-EU 5 108717571 108717571 single base substitution G C downstream_gene_variant BRCA-EU 5 108717571 108717571 single base substitution G C intron_variant BRCA-EU 5 108717664 108717664 single base substitution G T downstream_gene_variant BRCA-EU 5 108717664 108717664 single base substitution G T intron_variant BRCA-EU 5 108718309 108718309 single base substitution G A downstream_gene_variant BRCA-EU 5 108718309 108718309 single base substitution G A intron_variant BRCA-EU 5 108718818 108718818 single base substitution T A downstream_gene_variant BRCA-EU 5 108718818 108718818 single base substitution T A intron_variant BRCA-EU 5 108718868 108718868 single base substitution C T downstream_gene_variant BRCA-EU 5 108718868 108718868 single base substitution C T intron_variant BRCA-EU 5 108720024 108720024 single base substitution T C intron_variant BRCA-EU 5 108720024 108720024 single base substitution T C upstream_gene_variant BRCA-EU 5 108721483 108721483 single base substitution G A intron_variant BRCA-EU 5 108721483 108721483 single base substitution G A upstream_gene_variant BRCA-EU 5 108723079 108723079 single base substitution G A intron_variant BRCA-EU 5 108723079 108723079 single base substitution G A upstream_gene_variant BRCA-EU 5 108724853 108724853 single base substitution C A intron_variant BRCA-EU 5 108725067 108725067 single base substitution G A intron_variant BRCA-EU 5 108726237 108726237 deletion of <=200bp T - intron_variant BRCA-EU 5 108726723 108726723 single base substitution C T intron_variant BRCA-EU 5 108726835 108726835 single base substitution T A intron_variant BRCA-EU 5 108727107 108727107 single base substitution C G intron_variant BRCA-EU 5 108731098 108731098 single base substitution C T intron_variant BRCA-EU 5 108731673 108731673 single base substitution C A intron_variant BRCA-EU 5 108731685 108731685 single base substitution G T intron_variant BRCA-EU 5 108732351 108732351 single base substitution C A intron_variant BRCA-EU 5 108736223 108736223 single base substitution G A intron_variant BRCA-EU 5 108737219 108737219 single base substitution G A intron_variant BRCA-EU 5 108741808 108741808 single base substitution G A intron_variant BRCA-EU 5 108742088 108742088 single base substitution G T intron_variant BRCA-EU 5 108743885 108743885 single base substitution T C intron_variant BRCA-EU 5 108743975 108743975 single base substitution T A intron_variant BRCA-EU 5 108744739 108744739 single base substitution A T intron_variant BRCA-EU 5 108745399 108745399 single base substitution C A intron_variant BRCA-EU 5 108745399 108745399 single base substitution C A upstream_gene_variant BRCA-EU 5 108745891 108745891 single base substitution G A upstream_gene_variant BRCA-EU 5 108746217 108746217 single base substitution G C upstream_gene_variant BRCA-EU 5 108747294 108747294 single base substitution C A upstream_gene_variant BRCA-EU 5 108748040 108748040 single base substitution T G upstream_gene_variant BRCA-EU 5 108749153 108749153 single base substitution C T upstream_gene_variant BRCA-EU 5 108749593 108749593 single base substitution G T upstream_gene_variant BRCA-EU 5 108749883 108749883 single base substitution C T upstream_gene_variant BRCA-EU 5 108750142 108750142 single base substitution T C upstream_gene_variant BRCA-FR 5 108676464 108676464 single base substitution G T intron_variant BRCA-FR 5 108687594 108687594 single base substitution T G intron_variant BRCA-FR 5 108695702 108695702 single base substitution G A intron_variant BRCA-FR 5 108696290 108696290 single base substitution C T intron_variant BRCA-FR 5 108696595 108696595 single base substitution G A intron_variant BRCA-FR 5 108696818 108696818 single base substitution G A intron_variant BRCA-FR 5 108718472 108718472 single base substitution C T downstream_gene_variant BRCA-FR 5 108718472 108718472 single base substitution C T intron_variant BRCA-FR 5 108737219 108737219 single base substitution G A intron_variant BRCA-FR 5 108742088 108742088 single base substitution G T intron_variant BRCA-FR 5 108749883 108749883 single base substitution C T upstream_gene_variant BRCA-UK 5 108678143 108678143 single base substitution G C intron_variant BRCA-UK 5 108689493 108689493 single base substitution A C intron_variant BRCA-UK 5 108690107 108690107 single base substitution T G intron_variant BRCA-UK 5 108693233 108693233 single base substitution C G intron_variant BRCA-UK 5 108696420 108696420 single base substitution C T intron_variant BRCA-UK 5 108724853 108724853 single base substitution C A intron_variant BRCA-UK 5 108726723 108726723 single base substitution C T intron_variant BRCA-US 5 108691698 108691698 single base substitution C T missense_variant G561E 1682G>A BRCA-US 5 108704338 108704338 single base substitution C G missense_variant D465H 1393G>C BRCA-US 5 108714080 108714080 single base substitution C T downstream_gene_variant BRCA-US 5 108714080 108714080 single base substitution C T missense_variant E370K 1108G>A BRCA-US 5 108714379 108714379 single base substitution T A downstream_gene_variant BRCA-US 5 108714379 108714379 single base substitution T A missense_variant Q270L 809A>T BRCA-US 5 108714508 108714508 single base substitution C T downstream_gene_variant BRCA-US 5 108714508 108714508 single base substitution C T missense_variant R227K 680G>A BTCA-JP 5 108673125 108673125 deletion of <=200bp G - intron_variant BTCA-JP 5 108704190 108704190 single base substitution T C intron_variant BTCA-JP 5 108704278 108704278 single base substitution A C missense_variant L485V 1453T>G CESC-US 5 108698712 108698712 single base substitution G A missense_variant S494F 1481C>T CESC-US 5 108698717 108698717 single base substitution C G missense_variant Q492H 1476G>C CESC-US 5 108704312 108704312 single base substitution A G synonymous_variant S473S 1419T>C CESC-US 5 108714347 108714347 single base substitution G T downstream_gene_variant CESC-US 5 108714347 108714347 single base substitution G T missense_variant H281N 841C>A CLLE-ES 5 108689791 108689791 insertion of <=200bp - ATG intron_variant CLLE-ES 5 108712912 108712912 single base substitution T C downstream_gene_variant CLLE-ES 5 108712912 108712912 single base substitution T C intron_variant CLLE-ES 5 108733515 108733515 single base substitution G T intron_variant COAD-US 5 108672990 108672990 single base substitution G A missense_variant S690F 2069C>T COAD-US 5 108714627 108714627 single base substitution G A downstream_gene_variant COAD-US 5 108714627 108714627 single base substitution G A synonymous_variant V187V 561C>T COAD-US 5 108714872 108714872 single base substitution C T downstream_gene_variant COAD-US 5 108714872 108714872 single base substitution C T exon_variant COAD-US 5 108714872 108714872 single base substitution C T missense_variant G106S 316G>A COCA-CN 5 108673125 108673125 single base substitution G A intron_variant COCA-CN 5 108674333 108674333 single base substitution G A intron_variant COCA-CN 5 108675222 108675222 single base substitution A T intron_variant COCA-CN 5 108677411 108677411 single base substitution T C intron_variant COCA-CN 5 108679302 108679302 single base substitution C A intron_variant COCA-CN 5 108696701 108696701 single base substitution C T intron_variant COCA-CN 5 108704274 108704274 single base substitution G T missense_variant S486Y 1457C>A COCA-CN 5 108704338 108704338 single base substitution C A missense_variant D465Y 1393G>T COCA-CN 5 108708628 108708628 single base substitution G A intron_variant COCA-CN 5 108727965 108727965 single base substitution A G intron_variant COCA-CN 5 108736710 108736710 single base substitution C A intron_variant COCA-CN 5 108744910 108744910 single base substitution A G exon_variant COCA-CN 5 108744910 108744910 single base substitution A G intron_variant EOPC-DE 5 108743302 108743302 single base substitution A G intron_variant ESAD-UK 5 108667046 108667046 single base substitution C G downstream_gene_variant ESAD-UK 5 108667928 108667928 single base substitution G C downstream_gene_variant ESAD-UK 5 108668366 108668366 single base substitution G A downstream_gene_variant ESAD-UK 5 108670221 108670221 single base substitution A G downstream_gene_variant ESAD-UK 5 108670426 108670426 single base substitution C T 3_prime_UTR_variant ESAD-UK 5 108671863 108671863 single base substitution A G 3_prime_UTR_variant ESAD-UK 5 108672630 108672630 single base substitution C T 3_prime_UTR_variant ESAD-UK 5 108679532 108679532 single base substitution C T intron_variant ESAD-UK 5 108682687 108682687 single base substitution C G intron_variant ESAD-UK 5 108683713 108683713 single base substitution G C intron_variant ESAD-UK 5 108687232 108687232 single base substitution G A intron_variant ESAD-UK 5 108687242 108687242 single base substitution G A intron_variant ESAD-UK 5 108687842 108687842 single base substitution A G intron_variant ESAD-UK 5 108688695 108688695 single base substitution T C intron_variant ESAD-UK 5 108691767 108691767 single base substitution T A intron_variant ESAD-UK 5 108695654 108695654 single base substitution A C intron_variant ESAD-UK 5 108696977 108696977 single base substitution C A intron_variant ESAD-UK 5 108704896 108704896 single base substitution A G intron_variant ESAD-UK 5 108706877 108706877 single base substitution C A intron_variant ESAD-UK 5 108707491 108707491 single base substitution A C intron_variant ESAD-UK 5 108707733 108707733 deletion of <=200bp T - intron_variant ESAD-UK 5 108708754 108708754 single base substitution C A intron_variant ESAD-UK 5 108708922 108708922 single base substitution C A intron_variant ESAD-UK 5 108710437 108710437 single base substitution G A downstream_gene_variant ESAD-UK 5 108710437 108710437 single base substitution G A intron_variant ESAD-UK 5 108711265 108711265 single base substitution T C downstream_gene_variant ESAD-UK 5 108711265 108711265 single base substitution T C intron_variant ESAD-UK 5 108712711 108712711 single base substitution C T downstream_gene_variant ESAD-UK 5 108712711 108712711 single base substitution C T intron_variant ESAD-UK 5 108713167 108713167 deletion of <=200bp A - downstream_gene_variant ESAD-UK 5 108713167 108713167 deletion of <=200bp A - intron_variant ESAD-UK 5 108715866 108715866 single base substitution C A downstream_gene_variant ESAD-UK 5 108715866 108715866 single base substitution C A intron_variant ESAD-UK 5 108717855 108717855 single base substitution A C downstream_gene_variant ESAD-UK 5 108717855 108717855 single base substitution A C intron_variant ESAD-UK 5 108718079 108718079 deletion of <=200bp A - downstream_gene_variant ESAD-UK 5 108718079 108718079 deletion of <=200bp A - intron_variant ESAD-UK 5 108719495 108719495 single base substitution G A intron_variant ESAD-UK 5 108719495 108719495 single base substitution G A upstream_gene_variant ESAD-UK 5 108721176 108721176 single base substitution T A intron_variant ESAD-UK 5 108721176 108721176 single base substitution T A upstream_gene_variant ESAD-UK 5 108722696 108722696 single base substitution G A intron_variant ESAD-UK 5 108722696 108722696 single base substitution G A upstream_gene_variant ESAD-UK 5 108722857 108722857 single base substitution C T intron_variant ESAD-UK 5 108722857 108722857 single base substitution C T upstream_gene_variant ESAD-UK 5 108723591 108723591 single base substitution A T intron_variant ESAD-UK 5 108723591 108723591 single base substitution A T upstream_gene_variant ESAD-UK 5 108725788 108725788 single base substitution A G intron_variant ESAD-UK 5 108725862 108725862 single base substitution T C intron_variant ESAD-UK 5 108727412 108727412 deletion of <=200bp A - intron_variant ESAD-UK 5 108727916 108727916 single base substitution G A intron_variant ESAD-UK 5 108728015 108728015 single base substitution A T intron_variant ESAD-UK 5 108728644 108728644 single base substitution G T intron_variant ESAD-UK 5 108729429 108729429 single base substitution G A intron_variant ESAD-UK 5 108736507 108736507 single base substitution C T intron_variant ESAD-UK 5 108736641 108736641 single base substitution G A intron_variant ESAD-UK 5 108736764 108736764 single base substitution G T intron_variant ESAD-UK 5 108740915 108740915 single base substitution A G intron_variant ESAD-UK 5 108743008 108743008 deletion of <=200bp A - intron_variant ESAD-UK 5 108743227 108743227 single base substitution G C intron_variant ESAD-UK 5 108744049 108744049 single base substitution C A intron_variant ESAD-UK 5 108745007 108745007 single base substitution G C exon_variant ESAD-UK 5 108745007 108745007 single base substitution G C intron_variant ESAD-UK 5 108748244 108748244 single base substitution G A upstream_gene_variant GBM-US 5 108680493 108680493 single base substitution C A missense_variant A598S 1792G>T KIRC-US 5 108717359 108717359 single base substitution C A downstream_gene_variant KIRC-US 5 108717359 108717359 single base substitution C A exon_variant KIRC-US 5 108717359 108717359 single base substitution C A missense_variant G26V 77G>T LAML-KR 5 108676338 108676338 single base substitution C T intron_variant LAML-KR 5 108677213 108677213 single base substitution G A intron_variant LAML-KR 5 108677583 108677583 single base substitution G C intron_variant LAML-KR 5 108677768 108677768 single base substitution G A intron_variant LAML-KR 5 108678305 108678305 single base substitution A G intron_variant LAML-KR 5 108678711 108678711 single base substitution C T intron_variant LAML-KR 5 108678761 108678761 single base substitution A G intron_variant LAML-KR 5 108679010 108679010 single base substitution G A intron_variant LAML-KR 5 108681196 108681196 single base substitution C A intron_variant LAML-KR 5 108700322 108700322 single base substitution T A intron_variant LAML-KR 5 108718565 108718565 single base substitution T A downstream_gene_variant LAML-KR 5 108718565 108718565 single base substitution T A intron_variant LGG-US 5 108717302 108717302 single base substitution A C downstream_gene_variant LGG-US 5 108717302 108717302 single base substitution A C exon_variant LGG-US 5 108717302 108717302 single base substitution A C missense_variant F45C 134T>G LICA-CN 5 108673009 108673009 single base substitution C A stop_gained E684* 2050G>T LICA-FR 5 108679891 108679891 single base substitution C T splice_region_variant LICA-FR 5 108688614 108688614 single base substitution C G intron_variant LICA-FR 5 108688821 108688821 single base substitution C T intron_variant LICA-FR 5 108688935 108688935 single base substitution C T intron_variant LICA-FR 5 108691716 108691716 single base substitution C A missense_variant G555V 1664G>T LICA-FR 5 108693004 108693004 single base substitution T A intron_variant LICA-FR 5 108720994 108720994 single base substitution T C intron_variant LICA-FR 5 108720994 108720994 single base substitution T C upstream_gene_variant LIHC-US 5 108714271 108714271 single base substitution T C downstream_gene_variant LIHC-US 5 108714271 108714271 single base substitution T C missense_variant H306R 917A>G LIHC-US 5 108714875 108714875 single base substitution A C downstream_gene_variant LIHC-US 5 108714875 108714875 single base substitution A C exon_variant LIHC-US 5 108714875 108714875 single base substitution A C missense_variant C105G 313T>G LIHC-US 5 108714881 108714881 single base substitution G T downstream_gene_variant LIHC-US 5 108714881 108714881 single base substitution G T exon_variant LIHC-US 5 108714881 108714881 single base substitution G T missense_variant P103T 307C>A LINC-JP 5 108688313 108688313 single base substitution G A intron_variant LINC-JP 5 108689113 108689113 single base substitution T C intron_variant LINC-JP 5 108691529 108691529 single base substitution T C intron_variant LINC-JP 5 108691599 108691599 single base substitution C A intron_variant LINC-JP 5 108712620 108712620 single base substitution T C downstream_gene_variant LINC-JP 5 108712620 108712620 single base substitution T C intron_variant LINC-JP 5 108713870 108713870 single base substitution T C downstream_gene_variant LINC-JP 5 108713870 108713870 single base substitution T C intron_variant LINC-JP 5 108724177 108724177 single base substitution A G intron_variant LINC-JP 5 108724177 108724177 single base substitution A G upstream_gene_variant LINC-JP 5 108724672 108724672 single base substitution T C intron_variant LINC-JP 5 108724839 108724839 single base substitution C G intron_variant LINC-JP 5 108733365 108733365 single base substitution A C intron_variant LINC-JP 5 108735658 108735658 single base substitution G C intron_variant LINC-JP 5 108740527 108740527 single base substitution T C intron_variant LINC-JP 5 108746786 108746786 single base substitution G T upstream_gene_variant LIRI-JP 5 108666142 108666142 single base substitution T A downstream_gene_variant LIRI-JP 5 108668475 108668475 single base substitution T C downstream_gene_variant LIRI-JP 5 108668503 108668503 single base substitution A G downstream_gene_variant LIRI-JP 5 108668879 108668879 single base substitution C T downstream_gene_variant LIRI-JP 5 108670096 108670096 single base substitution T G downstream_gene_variant LIRI-JP 5 108670200 108670200 single base substitution T C downstream_gene_variant LIRI-JP 5 108670934 108670934 single base substitution T C 3_prime_UTR_variant LIRI-JP 5 108673327 108673327 single base substitution A G intron_variant LIRI-JP 5 108675783 108675783 single base substitution C T intron_variant LIRI-JP 5 108683926 108683926 single base substitution T C intron_variant LIRI-JP 5 108687770 108687770 single base substitution G A intron_variant LIRI-JP 5 108688130 108688130 single base substitution T C intron_variant LIRI-JP 5 108690429 108690429 single base substitution T C intron_variant LIRI-JP 5 108691476 108691476 single base substitution A G intron_variant LIRI-JP 5 108693439 108693439 single base substitution T C intron_variant LIRI-JP 5 108696039 108696039 single base substitution T C intron_variant LIRI-JP 5 108696502 108696502 single base substitution C A intron_variant LIRI-JP 5 108701353 108701353 single base substitution G T intron_variant LIRI-JP 5 108701866 108701866 single base substitution T C intron_variant LIRI-JP 5 108703173 108703173 single base substitution A C intron_variant LIRI-JP 5 108704294 108704294 single base substitution T C synonymous_variant E479E 1437A>G LIRI-JP 5 108704645 108704645 single base substitution T C intron_variant LIRI-JP 5 108704686 108704686 single base substitution T C intron_variant LIRI-JP 5 108705936 108705936 single base substitution C A intron_variant LIRI-JP 5 108709034 108709034 single base substitution G C intron_variant LIRI-JP 5 108709812 108709812 single base substitution G A intron_variant LIRI-JP 5 108710329 108710329 single base substitution C A downstream_gene_variant LIRI-JP 5 108710329 108710329 single base substitution C A intron_variant LIRI-JP 5 108711195 108711195 single base substitution A C downstream_gene_variant LIRI-JP 5 108711195 108711195 single base substitution A C intron_variant LIRI-JP 5 108714016 108714016 single base substitution T C downstream_gene_variant LIRI-JP 5 108714016 108714016 single base substitution T C missense_variant N391S 1172A>G LIRI-JP 5 108714595 108714604 deletion of <=200bp CCTAATGATT - downstream_gene_variant LIRI-JP 5 108714595 108714604 deletion of <=200bp CCTAATGATT - frameshift_variant ESLG195 LIRI-JP 5 108715581 108715581 single base substitution T C downstream_gene_variant LIRI-JP 5 108715581 108715581 single base substitution T C intron_variant LIRI-JP 5 108718491 108718491 single base substitution G C downstream_gene_variant LIRI-JP 5 108718491 108718491 single base substitution G C intron_variant LIRI-JP 5 108719346 108719346 single base substitution G A intron_variant LIRI-JP 5 108719346 108719346 single base substitution G A upstream_gene_variant LIRI-JP 5 108720789 108720789 single base substitution T A intron_variant LIRI-JP 5 108720789 108720789 single base substitution T A upstream_gene_variant LIRI-JP 5 108722745 108722745 single base substitution T C intron_variant LIRI-JP 5 108722745 108722745 single base substitution T C upstream_gene_variant LIRI-JP 5 108723401 108723401 single base substitution C A intron_variant LIRI-JP 5 108723401 108723401 single base substitution C A upstream_gene_variant LIRI-JP 5 108723580 108723581 deletion of <=200bp TA - intron_variant LIRI-JP 5 108723580 108723581 deletion of <=200bp TA - upstream_gene_variant LIRI-JP 5 108726136 108726136 single base substitution T C intron_variant LIRI-JP 5 108726401 108726401 single base substitution A G exon_variant LIRI-JP 5 108726401 108726401 single base substitution A G intron_variant LIRI-JP 5 108727734 108727734 single base substitution G T intron_variant LIRI-JP 5 108728989 108728989 single base substitution A G intron_variant LIRI-JP 5 108729101 108729101 single base substitution T G intron_variant LIRI-JP 5 108730080 108730080 single base substitution T C intron_variant LIRI-JP 5 108730136 108730136 single base substitution T A intron_variant LIRI-JP 5 108730317 108730317 single base substitution G A intron_variant LIRI-JP 5 108733120 108733133 deletion of <=200bp TCCCAGTTCAGTTG - intron_variant LIRI-JP 5 108734141 108734141 single base substitution G C intron_variant LIRI-JP 5 108737351 108737351 single base substitution T C intron_variant LIRI-JP 5 108737419 108737419 single base substitution T G intron_variant LIRI-JP 5 108737460 108737460 single base substitution G C intron_variant LIRI-JP 5 108738151 108738151 single base substitution T C intron_variant LIRI-JP 5 108738686 108738686 single base substitution T A intron_variant LIRI-JP 5 108740252 108740252 single base substitution T G intron_variant LIRI-JP 5 108740269 108740269 single base substitution T G intron_variant LIRI-JP 5 108740854 108740854 single base substitution A C intron_variant LIRI-JP 5 108741195 108741195 single base substitution T C intron_variant LIRI-JP 5 108744809 108744809 single base substitution T C intron_variant LIRI-JP 5 108745846 108745846 single base substitution T C upstream_gene_variant LIRI-JP 5 108750526 108750526 single base substitution T C upstream_gene_variant LIRI-JP 5 108750593 108750593 single base substitution G A upstream_gene_variant LUSC-KR 5 108670311 108670311 single base substitution C T downstream_gene_variant LUSC-KR 5 108671975 108671975 single base substitution T A 3_prime_UTR_variant LUSC-KR 5 108672989 108672989 single base substitution G C synonymous_variant S690S 2070C>G LUSC-KR 5 108675367 108675367 single base substitution C T intron_variant LUSC-KR 5 108676940 108676940 single base substitution A G intron_variant LUSC-KR 5 108676979 108676979 single base substitution G A intron_variant LUSC-KR 5 108677025 108677025 single base substitution C T intron_variant LUSC-KR 5 108677213 108677213 single base substitution G A intron_variant LUSC-KR 5 108677334 108677334 single base substitution C T intron_variant LUSC-KR 5 108677534 108677534 single base substitution C A intron_variant LUSC-KR 5 108677581 108677581 single base substitution G A intron_variant LUSC-KR 5 108677609 108677609 single base substitution G A intron_variant LUSC-KR 5 108677768 108677768 single base substitution G A intron_variant LUSC-KR 5 108677866 108677866 single base substitution G A intron_variant LUSC-KR 5 108677966 108677966 single base substitution C T intron_variant LUSC-KR 5 108678057 108678057 single base substitution G A intron_variant LUSC-KR 5 108678083 108678083 single base substitution G A intron_variant LUSC-KR 5 108678110 108678110 single base substitution G C intron_variant LUSC-KR 5 108678143 108678143 single base substitution G C intron_variant LUSC-KR 5 108678147 108678147 single base substitution G A intron_variant LUSC-KR 5 108678160 108678160 single base substitution G A intron_variant LUSC-KR 5 108678243 108678243 single base substitution A G intron_variant LUSC-KR 5 108678357 108678357 single base substitution G A intron_variant LUSC-KR 5 108678395 108678395 single base substitution G A intron_variant LUSC-KR 5 108678408 108678408 single base substitution A G intron_variant LUSC-KR 5 108678761 108678761 single base substitution A G intron_variant LUSC-KR 5 108681487 108681487 single base substitution C T intron_variant LUSC-KR 5 108683746 108683746 single base substitution G A intron_variant LUSC-KR 5 108685671 108685671 single base substitution C T intron_variant LUSC-KR 5 108691815 108691815 single base substitution C A intron_variant LUSC-KR 5 108696330 108696330 single base substitution G A intron_variant LUSC-KR 5 108698529 108698529 single base substitution C A intron_variant LUSC-KR 5 108704252 108704252 single base substitution T C intron_variant LUSC-KR 5 108709247 108709247 single base substitution G A intron_variant LUSC-KR 5 108712874 108712874 single base substitution T A downstream_gene_variant LUSC-KR 5 108712874 108712874 single base substitution T A intron_variant LUSC-KR 5 108718596 108718596 single base substitution A C downstream_gene_variant LUSC-KR 5 108718596 108718596 single base substitution A C intron_variant LUSC-KR 5 108721774 108721774 single base substitution T A intron_variant LUSC-KR 5 108721774 108721774 single base substitution T A upstream_gene_variant LUSC-KR 5 108721775 108721775 single base substitution G A intron_variant LUSC-KR 5 108721775 108721775 single base substitution G A upstream_gene_variant LUSC-KR 5 108725619 108725619 single base substitution G T intron_variant LUSC-KR 5 108725743 108725743 single base substitution T C intron_variant LUSC-KR 5 108728892 108728892 single base substitution G A intron_variant LUSC-KR 5 108731133 108731133 single base substitution G A intron_variant LUSC-KR 5 108732486 108732486 single base substitution T G intron_variant LUSC-KR 5 108733913 108733913 single base substitution G C intron_variant LUSC-KR 5 108742201 108742201 single base substitution A C intron_variant LUSC-KR 5 108746563 108746563 single base substitution C G upstream_gene_variant LUSC-KR 5 108749834 108749834 single base substitution G T upstream_gene_variant LUSC-US 5 108714199 108714199 single base substitution T G downstream_gene_variant LUSC-US 5 108714199 108714199 single base substitution T G missense_variant E330A 989A>C LUSC-US 5 108714608 108714608 single base substitution G A downstream_gene_variant LUSC-US 5 108714608 108714608 single base substitution G A stop_gained Q194* 580C>T MALY-DE 5 108671576 108671576 single base substitution C A 3_prime_UTR_variant MALY-DE 5 108675636 108675636 single base substitution G A intron_variant MALY-DE 5 108683808 108683808 single base substitution T C intron_variant MALY-DE 5 108684374 108684374 deletion of <=200bp A - intron_variant MALY-DE 5 108691977 108691977 single base substitution T C intron_variant MALY-DE 5 108699128 108699128 single base substitution C T intron_variant MALY-DE 5 108700450 108700450 single base substitution T C intron_variant MALY-DE 5 108709919 108709919 single base substitution A T downstream_gene_variant MALY-DE 5 108709919 108709919 single base substitution A T intron_variant MALY-DE 5 108727652 108727652 single base substitution A C intron_variant MALY-DE 5 108727776 108727776 single base substitution T G intron_variant MALY-DE 5 108732356 108732356 single base substitution G C intron_variant MALY-DE 5 108743753 108743753 single base substitution G C intron_variant MALY-DE 5 108747496 108747496 single base substitution A T upstream_gene_variant MELA-AU 5 108665883 108665883 single base substitution C A downstream_gene_variant MELA-AU 5 108666218 108666218 single base substitution G A downstream_gene_variant MELA-AU 5 108666432 108666432 single base substitution G A downstream_gene_variant MELA-AU 5 108666442 108666442 single base substitution G A downstream_gene_variant MELA-AU 5 108667167 108667167 single base substitution G A downstream_gene_variant MELA-AU 5 108667311 108667311 single base substitution G A downstream_gene_variant MELA-AU 5 108667768 108667768 single base substitution G A downstream_gene_variant MELA-AU 5 108667869 108667869 single base substitution A T downstream_gene_variant MELA-AU 5 108667911 108667911 single base substitution G A downstream_gene_variant MELA-AU 5 108668363 108668363 single base substitution C A downstream_gene_variant MELA-AU 5 108669614 108669614 single base substitution A G downstream_gene_variant MELA-AU 5 108669672 108669672 single base substitution G A downstream_gene_variant MELA-AU 5 108670160 108670160 single base substitution G A downstream_gene_variant MELA-AU 5 108670666 108670666 single base substitution T C 3_prime_UTR_variant MELA-AU 5 108670668 108670668 single base substitution A G 3_prime_UTR_variant MELA-AU 5 108672921 108672921 single base substitution A G 3_prime_UTR_variant MELA-AU 5 108673046 108673046 single base substitution G A synonymous_variant C671C 2013C>T MELA-AU 5 108673483 108673507 deletion of <=200bp TTAATTCACACCAAATCATTTATGA - intron_variant MELA-AU 5 108674133 108674133 single base substitution G A intron_variant MELA-AU 5 108675057 108675057 single base substitution G A intron_variant MELA-AU 5 108675178 108675178 single base substitution G A intron_variant MELA-AU 5 108675267 108675267 single base substitution G A intron_variant MELA-AU 5 108675908 108675908 single base substitution G A intron_variant MELA-AU 5 108676055 108676055 single base substitution T A intron_variant MELA-AU 5 108676076 108676076 single base substitution G A intron_variant MELA-AU 5 108676099 108676099 single base substitution G A intron_variant MELA-AU 5 108679481 108679481 single base substitution G A intron_variant MELA-AU 5 108679555 108679555 single base substitution G A intron_variant MELA-AU 5 108679661 108679661 single base substitution G A intron_variant MELA-AU 5 108681969 108681969 single base substitution G A intron_variant MELA-AU 5 108682120 108682120 single base substitution A T intron_variant MELA-AU 5 108682220 108682220 single base substitution G A intron_variant MELA-AU 5 108682315 108682315 single base substitution G A intron_variant MELA-AU 5 108682785 108682785 single base substitution G A intron_variant MELA-AU 5 108682951 108682951 single base substitution G A intron_variant MELA-AU 5 108683094 108683094 single base substitution C G intron_variant MELA-AU 5 108683682 108683682 single base substitution G A intron_variant MELA-AU 5 108683992 108683992 single base substitution G A intron_variant MELA-AU 5 108686326 108686331 deletion of <=200bp CTTTAA - intron_variant MELA-AU 5 108686455 108686455 single base substitution G A intron_variant MELA-AU 5 108687275 108687275 single base substitution G A intron_variant MELA-AU 5 108688372 108688372 single base substitution G A intron_variant MELA-AU 5 108688695 108688695 single base substitution T C intron_variant MELA-AU 5 108689146 108689146 single base substitution T C intron_variant MELA-AU 5 108689234 108689234 single base substitution A G intron_variant MELA-AU 5 108689701 108689701 single base substitution G A intron_variant MELA-AU 5 108689719 108689719 single base substitution A G intron_variant MELA-AU 5 108689753 108689753 single base substitution A G intron_variant MELA-AU 5 108689914 108689914 single base substitution T G intron_variant MELA-AU 5 108689995 108689995 single base substitution A C intron_variant MELA-AU 5 108689997 108689997 single base substitution A G intron_variant MELA-AU 5 108690026 108690026 single base substitution A G intron_variant MELA-AU 5 108690638 108690638 single base substitution G A intron_variant MELA-AU 5 108691183 108691183 single base substitution G A intron_variant MELA-AU 5 108691332 108691332 single base substitution A G intron_variant MELA-AU 5 108692124 108692124 single base substitution T G intron_variant MELA-AU 5 108692541 108692541 deletion of <=200bp A - intron_variant MELA-AU 5 108693212 108693212 single base substitution G A intron_variant MELA-AU 5 108693344 108693344 single base substitution C T intron_variant MELA-AU 5 108694049 108694049 single base substitution G A intron_variant MELA-AU 5 108694783 108694783 single base substitution C T intron_variant MELA-AU 5 108696134 108696134 single base substitution G A intron_variant MELA-AU 5 108696252 108696252 single base substitution A G intron_variant MELA-AU 5 108696600 108696600 single base substitution G A intron_variant MELA-AU 5 108696626 108696626 single base substitution C T intron_variant MELA-AU 5 108696737 108696737 single base substitution G A intron_variant MELA-AU 5 108696816 108696816 single base substitution G A intron_variant MELA-AU 5 108696913 108696913 single base substitution G A intron_variant MELA-AU 5 108697024 108697024 single base substitution G A intron_variant MELA-AU 5 108697329 108697329 single base substitution G A intron_variant MELA-AU 5 108697520 108697520 deletion of <=200bp T - intron_variant MELA-AU 5 108697702 108697702 single base substitution G A intron_variant MELA-AU 5 108697752 108697752 single base substitution G A intron_variant MELA-AU 5 108697916 108697916 single base substitution G A intron_variant MELA-AU 5 108698139 108698139 single base substitution G A intron_variant MELA-AU 5 108698438 108698438 single base substitution G A intron_variant MELA-AU 5 108698492 108698492 single base substitution C T intron_variant MELA-AU 5 108699031 108699031 single base substitution G A intron_variant MELA-AU 5 108699520 108699520 single base substitution G A intron_variant MELA-AU 5 108700442 108700442 single base substitution A C intron_variant MELA-AU 5 108700553 108700553 single base substitution G A intron_variant MELA-AU 5 108701225 108701225 single base substitution T A intron_variant MELA-AU 5 108701227 108701227 single base substitution G A intron_variant MELA-AU 5 108701417 108701417 single base substitution T C intron_variant MELA-AU 5 108701649 108701649 single base substitution C T intron_variant MELA-AU 5 108702401 108702401 single base substitution C T intron_variant MELA-AU 5 108702615 108702615 single base substitution C T intron_variant MELA-AU 5 108702846 108702846 single base substitution T A intron_variant MELA-AU 5 108702910 108702910 single base substitution G A intron_variant MELA-AU 5 108703223 108703223 single base substitution G A intron_variant MELA-AU 5 108704038 108704038 single base substitution A T intron_variant MELA-AU 5 108705065 108705065 single base substitution G A intron_variant MELA-AU 5 108706427 108706434 deletion of <=200bp GAACCTTC - intron_variant MELA-AU 5 108706829 108706829 single base substitution A T intron_variant MELA-AU 5 108709140 108709140 single base substitution G A intron_variant MELA-AU 5 108709228 108709228 single base substitution G A intron_variant MELA-AU 5 108709866 108709866 single base substitution T C intron_variant MELA-AU 5 108710827 108710827 single base substitution G A downstream_gene_variant MELA-AU 5 108710827 108710827 single base substitution G A intron_variant MELA-AU 5 108711019 108711019 single base substitution T C downstream_gene_variant MELA-AU 5 108711019 108711019 single base substitution T C intron_variant MELA-AU 5 108713794 108713794 single base substitution A G downstream_gene_variant MELA-AU 5 108713794 108713794 single base substitution A G intron_variant MELA-AU 5 108715714 108715714 single base substitution G A downstream_gene_variant MELA-AU 5 108715714 108715714 single base substitution G A intron_variant MELA-AU 5 108716328 108716328 single base substitution G A downstream_gene_variant MELA-AU 5 108716328 108716328 single base substitution G A intron_variant MELA-AU 5 108716754 108716754 single base substitution T C downstream_gene_variant MELA-AU 5 108716754 108716754 single base substitution T C intron_variant MELA-AU 5 108716972 108716972 single base substitution A T downstream_gene_variant MELA-AU 5 108716972 108716972 single base substitution A T intron_variant MELA-AU 5 108718243 108718243 single base substitution G A downstream_gene_variant MELA-AU 5 108718243 108718243 single base substitution G A intron_variant MELA-AU 5 108718347 108718347 single base substitution G A downstream_gene_variant MELA-AU 5 108718347 108718347 single base substitution G A intron_variant MELA-AU 5 108718811 108718811 single base substitution C T downstream_gene_variant MELA-AU 5 108718811 108718811 single base substitution C T intron_variant MELA-AU 5 108718923 108718923 single base substitution G A downstream_gene_variant MELA-AU 5 108718923 108718923 single base substitution G A intron_variant MELA-AU 5 108719933 108719934 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 108719933 108719934 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 108719941 108719941 single base substitution T C intron_variant MELA-AU 5 108719941 108719941 single base substitution T C upstream_gene_variant MELA-AU 5 108719978 108719978 single base substitution G A intron_variant MELA-AU 5 108719978 108719978 single base substitution G A upstream_gene_variant MELA-AU 5 108720598 108720598 single base substitution A G intron_variant MELA-AU 5 108720598 108720598 single base substitution A G upstream_gene_variant MELA-AU 5 108720798 108720798 single base substitution G A intron_variant MELA-AU 5 108720798 108720798 single base substitution G A upstream_gene_variant MELA-AU 5 108721483 108721483 single base substitution G A intron_variant MELA-AU 5 108721483 108721483 single base substitution G A upstream_gene_variant MELA-AU 5 108722435 108722435 single base substitution G A intron_variant MELA-AU 5 108722435 108722435 single base substitution G A upstream_gene_variant MELA-AU 5 108722480 108722480 single base substitution C T intron_variant MELA-AU 5 108722480 108722480 single base substitution C T upstream_gene_variant MELA-AU 5 108722600 108722600 single base substitution C T intron_variant MELA-AU 5 108722600 108722600 single base substitution C T upstream_gene_variant MELA-AU 5 108723680 108723680 single base substitution A G intron_variant MELA-AU 5 108723680 108723680 single base substitution A G upstream_gene_variant MELA-AU 5 108723989 108723989 single base substitution G A intron_variant MELA-AU 5 108723989 108723989 single base substitution G A upstream_gene_variant MELA-AU 5 108724287 108724287 single base substitution G A intron_variant MELA-AU 5 108724307 108724307 single base substitution G A intron_variant MELA-AU 5 108724419 108724419 single base substitution G A intron_variant MELA-AU 5 108725090 108725090 single base substitution G A intron_variant MELA-AU 5 108725383 108725383 single base substitution G A intron_variant MELA-AU 5 108725588 108725588 single base substitution C T intron_variant MELA-AU 5 108725961 108725961 single base substitution G A intron_variant MELA-AU 5 108726706 108726706 single base substitution G A intron_variant MELA-AU 5 108726862 108726862 insertion of <=200bp - A intron_variant MELA-AU 5 108727953 108727953 single base substitution G A intron_variant MELA-AU 5 108729311 108729311 single base substitution G A intron_variant MELA-AU 5 108729660 108729660 single base substitution G A intron_variant MELA-AU 5 108731776 108731776 single base substitution A G intron_variant MELA-AU 5 108732039 108732039 single base substitution G A intron_variant MELA-AU 5 108732808 108732808 single base substitution C T intron_variant MELA-AU 5 108735802 108735802 single base substitution C T intron_variant MELA-AU 5 108736410 108736410 single base substitution G A intron_variant MELA-AU 5 108737685 108737685 single base substitution G A intron_variant MELA-AU 5 108739062 108739062 single base substitution G A intron_variant MELA-AU 5 108739109 108739109 single base substitution G A intron_variant MELA-AU 5 108739381 108739381 single base substitution C T intron_variant MELA-AU 5 108739451 108739451 single base substitution A C intron_variant MELA-AU 5 108739598 108739598 single base substitution C T intron_variant MELA-AU 5 108739699 108739699 single base substitution G A intron_variant MELA-AU 5 108740232 108740232 single base substitution A T intron_variant MELA-AU 5 108740667 108740667 single base substitution G A intron_variant MELA-AU 5 108741187 108741187 single base substitution G A intron_variant MELA-AU 5 108741838 108741839 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 108742686 108742686 single base substitution C G intron_variant MELA-AU 5 108743961 108743961 single base substitution G A intron_variant MELA-AU 5 108744752 108744753 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 108744857 108744857 single base substitution G A exon_variant MELA-AU 5 108744857 108744857 single base substitution G A intron_variant MELA-AU 5 108745756 108745756 single base substitution C T upstream_gene_variant MELA-AU 5 108745954 108745954 single base substitution G A upstream_gene_variant MELA-AU 5 108745959 108745959 single base substitution G A upstream_gene_variant MELA-AU 5 108745977 108745977 single base substitution C T upstream_gene_variant MELA-AU 5 108747508 108747508 single base substitution G A upstream_gene_variant MELA-AU 5 108748005 108748005 single base substitution C T upstream_gene_variant MELA-AU 5 108748312 108748312 single base substitution G A upstream_gene_variant MELA-AU 5 108749728 108749728 single base substitution T G upstream_gene_variant MELA-AU 5 108749770 108749770 single base substitution G A upstream_gene_variant MELA-AU 5 108750006 108750006 single base substitution G A upstream_gene_variant MELA-AU 5 108750369 108750369 single base substitution G A upstream_gene_variant ORCA-IN 5 108669847 108669847 single base substitution G C downstream_gene_variant ORCA-IN 5 108672981 108672981 single base substitution G A missense_variant P693L 2078C>T ORCA-IN 5 108674011 108674011 single base substitution C G intron_variant ORCA-IN 5 108687772 108687772 single base substitution G C intron_variant ORCA-IN 5 108705593 108705593 single base substitution C T intron_variant ORCA-IN 5 108724767 108724767 single base substitution G C intron_variant ORCA-IN 5 108744505 108744505 deletion of <=200bp T - intron_variant OV-AU 5 108672129 108672129 single base substitution C T 3_prime_UTR_variant OV-AU 5 108688743 108688743 single base substitution C T intron_variant OV-AU 5 108688778 108688778 single base substitution T A intron_variant OV-AU 5 108688788 108688788 single base substitution G A intron_variant OV-AU 5 108693582 108693582 single base substitution G C intron_variant OV-AU 5 108701156 108701156 single base substitution A G intron_variant OV-AU 5 108708189 108708189 single base substitution T C intron_variant OV-AU 5 108709222 108709222 single base substitution G A intron_variant OV-AU 5 108710701 108710701 single base substitution C A downstream_gene_variant OV-AU 5 108710701 108710701 single base substitution C A intron_variant OV-AU 5 108712478 108712478 single base substitution T C downstream_gene_variant OV-AU 5 108712478 108712478 single base substitution T C intron_variant OV-AU 5 108715123 108715123 single base substitution T C downstream_gene_variant OV-AU 5 108715123 108715123 single base substitution T C intron_variant OV-AU 5 108720520 108720520 single base substitution T G intron_variant OV-AU 5 108720520 108720520 single base substitution T G upstream_gene_variant OV-AU 5 108720754 108720754 single base substitution G T intron_variant OV-AU 5 108720754 108720754 single base substitution G T upstream_gene_variant OV-AU 5 108731406 108731406 single base substitution A G intron_variant OV-AU 5 108731744 108731744 single base substitution G C intron_variant OV-AU 5 108740206 108740206 single base substitution G C intron_variant OV-AU 5 108740973 108740973 single base substitution G T intron_variant OV-AU 5 108741631 108741631 single base substitution A C intron_variant OV-AU 5 108742011 108742011 single base substitution G A intron_variant OV-AU 5 108743985 108743985 single base substitution C T intron_variant OV-AU 5 108743986 108743986 single base substitution A T intron_variant OV-AU 5 108750186 108750186 single base substitution G A upstream_gene_variant PACA-AU 5 108665608 108665608 single base substitution A G downstream_gene_variant PACA-AU 5 108668633 108668633 single base substitution G A downstream_gene_variant PACA-AU 5 108679942 108679942 single base substitution C A missense_variant L650F 1950G>T PACA-AU 5 108681133 108681133 single base substitution G A intron_variant PACA-AU 5 108684567 108684567 single base substitution A T intron_variant PACA-AU 5 108687044 108687044 single base substitution C A intron_variant PACA-AU 5 108688465 108688465 single base substitution C T intron_variant PACA-AU 5 108689680 108689680 single base substitution T G intron_variant PACA-AU 5 108689691 108689691 single base substitution G A intron_variant PACA-AU 5 108689729 108689729 single base substitution T G intron_variant PACA-AU 5 108689787 108689787 single base substitution A G intron_variant PACA-AU 5 108690029 108690029 single base substitution A C intron_variant PACA-AU 5 108690994 108690994 single base substitution T A intron_variant PACA-AU 5 108692508 108692508 single base substitution A G intron_variant PACA-AU 5 108693932 108693932 single base substitution C T intron_variant PACA-AU 5 108695070 108695070 single base substitution G C intron_variant PACA-AU 5 108695193 108695193 single base substitution G A intron_variant PACA-AU 5 108698273 108698273 single base substitution G A intron_variant PACA-AU 5 108699350 108699350 single base substitution T G intron_variant PACA-AU 5 108701734 108701734 single base substitution T G intron_variant PACA-AU 5 108705046 108705046 single base substitution T A intron_variant PACA-AU 5 108718155 108718155 insertion of <=200bp - AT downstream_gene_variant PACA-AU 5 108718155 108718155 insertion of <=200bp - AT intron_variant PACA-AU 5 108719103 108719103 single base substitution C T exon_variant PACA-AU 5 108719103 108719103 single base substitution C T splice_donor_variant PACA-AU 5 108720096 108720096 single base substitution T C intron_variant PACA-AU 5 108720096 108720096 single base substitution T C upstream_gene_variant PACA-AU 5 108728013 108728013 single base substitution G A intron_variant PACA-AU 5 108728652 108728652 single base substitution T C intron_variant PACA-AU 5 108728826 108728826 single base substitution A G intron_variant PACA-AU 5 108733627 108733627 single base substitution C A intron_variant PACA-AU 5 108733754 108733754 single base substitution G A intron_variant PACA-AU 5 108744817 108744817 single base substitution C T intron_variant PACA-AU 5 108744817 108744817 single base substitution C T splice_donor_variant PACA-AU 5 108746114 108746114 single base substitution G A upstream_gene_variant PACA-CA 5 108669985 108669985 single base substitution C T downstream_gene_variant PACA-CA 5 108670628 108670628 single base substitution C A 3_prime_UTR_variant PACA-CA 5 108671202 108671202 single base substitution T A 3_prime_UTR_variant PACA-CA 5 108671635 108671635 single base substitution A G 3_prime_UTR_variant PACA-CA 5 108673125 108673125 deletion of <=200bp G - intron_variant PACA-CA 5 108674070 108674070 single base substitution G A intron_variant PACA-CA 5 108674213 108674213 single base substitution C A intron_variant PACA-CA 5 108674700 108674700 single base substitution C T intron_variant PACA-CA 5 108682086 108682086 single base substitution T A intron_variant PACA-CA 5 108687512 108687512 single base substitution A C intron_variant PACA-CA 5 108687733 108687733 single base substitution G A intron_variant PACA-CA 5 108688854 108688854 insertion of <=200bp - A intron_variant PACA-CA 5 108689043 108689043 single base substitution T C intron_variant PACA-CA 5 108689245 108689245 single base substitution T C intron_variant PACA-CA 5 108689540 108689540 single base substitution T A intron_variant PACA-CA 5 108689655 108689658 deletion of <=200bp TGTC - intron_variant PACA-CA 5 108689772 108689772 single base substitution A G intron_variant PACA-CA 5 108689790 108689790 insertion of <=200bp - ATG intron_variant PACA-CA 5 108689885 108689885 single base substitution T C intron_variant PACA-CA 5 108690031 108690031 single base substitution A G intron_variant PACA-CA 5 108690200 108690200 insertion of <=200bp - T intron_variant PACA-CA 5 108691778 108691778 single base substitution A C intron_variant PACA-CA 5 108694521 108694521 insertion of <=200bp - A intron_variant PACA-CA 5 108697520 108697520 deletion of <=200bp T - intron_variant PACA-CA 5 108700415 108700415 single base substitution A G intron_variant PACA-CA 5 108702205 108702205 single base substitution C A intron_variant PACA-CA 5 108704260 108704260 single base substitution A G splice_donor_variant PACA-CA 5 108705185 108705185 single base substitution T G intron_variant PACA-CA 5 108712406 108712406 insertion of <=200bp - A downstream_gene_variant PACA-CA 5 108712406 108712406 insertion of <=200bp - A intron_variant PACA-CA 5 108716825 108716825 single base substitution A G downstream_gene_variant PACA-CA 5 108716825 108716825 single base substitution A G intron_variant PACA-CA 5 108717160 108717160 single base substitution C A downstream_gene_variant PACA-CA 5 108717160 108717160 single base substitution C A intron_variant PACA-CA 5 108718872 108718872 single base substitution G A downstream_gene_variant PACA-CA 5 108718872 108718872 single base substitution G A intron_variant PACA-CA 5 108727769 108727769 insertion of <=200bp - T intron_variant PACA-CA 5 108727770 108727770 deletion of <=200bp T - intron_variant PACA-CA 5 108728147 108728147 single base substitution A G intron_variant PACA-CA 5 108728472 108728472 single base substitution C T intron_variant PACA-CA 5 108736910 108736910 single base substitution G A intron_variant PACA-CA 5 108737193 108737193 single base substitution A G intron_variant PACA-CA 5 108739271 108739271 insertion of <=200bp - C intron_variant PACA-CA 5 108741619 108741619 single base substitution G A intron_variant PACA-CA 5 108742479 108742479 single base substitution G A intron_variant PACA-CA 5 108743880 108743880 single base substitution C T intron_variant PACA-CA 5 108745767 108745767 single base substitution T C upstream_gene_variant PACA-CA 5 108747798 108747798 single base substitution A G upstream_gene_variant PBCA-DE 5 108669559 108669559 single base substitution G A downstream_gene_variant PBCA-DE 5 108674395 108674395 single base substitution C T intron_variant PBCA-DE 5 108688695 108688695 single base substitution T C intron_variant PBCA-DE 5 108688720 108688720 deletion of <=200bp T - intron_variant PBCA-DE 5 108690026 108690026 single base substitution A G intron_variant PBCA-DE 5 108690031 108690031 single base substitution A G intron_variant PBCA-DE 5 108690180 108690181 deletion of <=200bp AG - intron_variant PBCA-DE 5 108692010 108692010 single base substitution T C intron_variant PBCA-DE 5 108692944 108692944 single base substitution T C intron_variant PBCA-DE 5 108701483 108701483 deletion of <=200bp T - intron_variant PBCA-DE 5 108721887 108721887 single base substitution C T intron_variant PBCA-DE 5 108721887 108721887 single base substitution C T upstream_gene_variant PBCA-DE 5 108732446 108732446 single base substitution T A intron_variant PBCA-DE 5 108745730 108745730 single base substitution G A upstream_gene_variant PBCA-DE 5 108749815 108749815 single base substitution G C upstream_gene_variant PRAD-CA 5 108676332 108676332 single base substitution C T intron_variant PRAD-CA 5 108688695 108688695 single base substitution T C intron_variant PRAD-CA 5 108689780 108689780 single base substitution A G intron_variant PRAD-CA 5 108690216 108690216 single base substitution G T intron_variant PRAD-CA 5 108702846 108702846 single base substitution T A intron_variant PRAD-CA 5 108703332 108703332 single base substitution T C intron_variant PRAD-CA 5 108723457 108723457 single base substitution A G intron_variant PRAD-CA 5 108723457 108723457 single base substitution A G upstream_gene_variant PRAD-CA 5 108739483 108739483 single base substitution A C intron_variant PRAD-UK 5 108678991 108678998 deletion of <=200bp AAAGAAAG - intron_variant PRAD-UK 5 108681760 108681760 single base substitution C T intron_variant PRAD-UK 5 108682304 108682304 single base substitution G A intron_variant PRAD-UK 5 108683326 108683326 single base substitution G A intron_variant PRAD-UK 5 108706248 108706248 single base substitution A T intron_variant PRAD-UK 5 108708156 108708156 single base substitution C G intron_variant PRAD-UK 5 108717493 108717493 single base substitution T A downstream_gene_variant PRAD-UK 5 108717493 108717493 single base substitution T A intron_variant PRAD-UK 5 108730354 108730354 single base substitution C G intron_variant RECA-EU 5 108670134 108670134 single base substitution T C downstream_gene_variant RECA-EU 5 108672439 108672439 single base substitution T C 3_prime_UTR_variant RECA-EU 5 108690840 108690840 single base substitution T G intron_variant RECA-EU 5 108693163 108693163 single base substitution T G intron_variant RECA-EU 5 108697879 108697879 single base substitution C T intron_variant RECA-EU 5 108699313 108699313 single base substitution A T intron_variant RECA-EU 5 108711585 108711585 single base substitution T C downstream_gene_variant RECA-EU 5 108711585 108711585 single base substitution T C intron_variant RECA-EU 5 108736587 108736587 single base substitution G A intron_variant RECA-EU 5 108738071 108738071 single base substitution G C intron_variant RECA-EU 5 108749109 108749109 single base substitution G C upstream_gene_variant SKCA-BR 5 108666063 108666063 single base substitution A G downstream_gene_variant SKCA-BR 5 108666351 108666351 insertion of <=200bp - CAA downstream_gene_variant SKCA-BR 5 108667453 108667453 single base substitution G A downstream_gene_variant SKCA-BR 5 108672882 108672882 single base substitution G A 3_prime_UTR_variant SKCA-BR 5 108676086 108676086 single base substitution G A intron_variant SKCA-BR 5 108676222 108676222 single base substitution T C intron_variant SKCA-BR 5 108676771 108676771 single base substitution G A intron_variant SKCA-BR 5 108677289 108677289 single base substitution C G intron_variant SKCA-BR 5 108677525 108677525 single base substitution T G intron_variant SKCA-BR 5 108677682 108677682 single base substitution G A intron_variant SKCA-BR 5 108677687 108677687 single base substitution G C intron_variant SKCA-BR 5 108677722 108677722 single base substitution G C intron_variant SKCA-BR 5 108678030 108678030 single base substitution G A intron_variant SKCA-BR 5 108678065 108678065 single base substitution C T intron_variant SKCA-BR 5 108678110 108678110 single base substitution G C intron_variant SKCA-BR 5 108678177 108678177 single base substitution G A intron_variant SKCA-BR 5 108678223 108678223 insertion of <=200bp - TG intron_variant SKCA-BR 5 108678373 108678373 single base substitution T C intron_variant SKCA-BR 5 108680823 108680823 single base substitution T G intron_variant SKCA-BR 5 108680992 108680992 single base substitution G A intron_variant SKCA-BR 5 108680993 108680993 single base substitution G A intron_variant SKCA-BR 5 108681675 108681675 single base substitution A G intron_variant SKCA-BR 5 108682734 108682734 single base substitution G A intron_variant SKCA-BR 5 108683310 108683310 single base substitution G A intron_variant SKCA-BR 5 108684977 108684977 single base substitution G A intron_variant SKCA-BR 5 108687949 108687949 single base substitution G C intron_variant SKCA-BR 5 108688288 108688288 single base substitution T G intron_variant SKCA-BR 5 108689110 108689112 deletion of <=200bp CTA - intron_variant SKCA-BR 5 108689163 108689163 single base substitution C T intron_variant SKCA-BR 5 108692626 108692626 single base substitution A T intron_variant SKCA-BR 5 108696665 108696665 single base substitution C T intron_variant SKCA-BR 5 108698529 108698529 single base substitution C T intron_variant SKCA-BR 5 108700539 108700539 single base substitution A T intron_variant SKCA-BR 5 108703094 108703094 insertion of <=200bp - TA intron_variant SKCA-BR 5 108703905 108703905 single base substitution C T intron_variant SKCA-BR 5 108705721 108705721 single base substitution G A intron_variant SKCA-BR 5 108706424 108706434 deletion of <=200bp TAAGAACCTTC - intron_variant SKCA-BR 5 108715787 108715788 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 5 108715787 108715788 deletion of <=200bp CT - intron_variant SKCA-BR 5 108716014 108716014 single base substitution G T downstream_gene_variant SKCA-BR 5 108716014 108716014 single base substitution G T intron_variant SKCA-BR 5 108716223 108716223 single base substitution A T downstream_gene_variant SKCA-BR 5 108716223 108716223 single base substitution A T intron_variant SKCA-BR 5 108719495 108719495 single base substitution G A intron_variant SKCA-BR 5 108719495 108719495 single base substitution G A upstream_gene_variant SKCA-BR 5 108720930 108720930 single base substitution G A intron_variant SKCA-BR 5 108720930 108720930 single base substitution G A upstream_gene_variant SKCA-BR 5 108720957 108720958 deletion of <=200bp GT - intron_variant SKCA-BR 5 108720957 108720958 deletion of <=200bp GT - upstream_gene_variant SKCA-BR 5 108721433 108721433 single base substitution G A intron_variant SKCA-BR 5 108721433 108721433 single base substitution G A upstream_gene_variant SKCA-BR 5 108722427 108722427 single base substitution G A intron_variant SKCA-BR 5 108722427 108722427 single base substitution G A upstream_gene_variant SKCA-BR 5 108724119 108724119 single base substitution G A intron_variant SKCA-BR 5 108724119 108724119 single base substitution G A upstream_gene_variant SKCA-BR 5 108728261 108728261 insertion of <=200bp - CA intron_variant SKCA-BR 5 108728540 108728540 single base substitution C G intron_variant SKCA-BR 5 108731073 108731073 single base substitution T A intron_variant SKCA-BR 5 108734340 108734340 single base substitution A G intron_variant SKCA-BR 5 108734589 108734589 single base substitution G A intron_variant SKCA-BR 5 108736187 108736187 single base substitution A G intron_variant SKCA-BR 5 108736201 108736201 single base substitution C G intron_variant SKCA-BR 5 108736455 108736455 single base substitution T G intron_variant SKCA-BR 5 108736467 108736467 single base substitution T G intron_variant SKCA-BR 5 108738379 108738379 single base substitution T C intron_variant SKCA-BR 5 108741495 108741495 single base substitution C A intron_variant SKCA-BR 5 108741496 108741496 single base substitution C T intron_variant SKCA-BR 5 108741700 108741700 single base substitution G A intron_variant SKCA-BR 5 108742734 108742734 single base substitution G A intron_variant SKCA-BR 5 108746289 108746289 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 5 108746293 108746293 single base substitution A G upstream_gene_variant SKCA-BR 5 108749281 108749281 single base substitution G A upstream_gene_variant SKCA-BR 5 108749586 108749586 single base substitution G A upstream_gene_variant SKCA-BR 5 108750007 108750007 single base substitution G A upstream_gene_variant SKCA-BR 5 108750198 108750198 single base substitution G A upstream_gene_variant SKCM-US 5 108672937 108672937 single base substitution G A missense_variant P708S 2122C>T SKCM-US 5 108672990 108672990 single base substitution G A missense_variant S690F 2069C>T SKCM-US 5 108673046 108673046 single base substitution G A synonymous_variant C671C 2013C>T SKCM-US 5 108691661 108691661 single base substitution G A synonymous_variant F573F 1719C>T SKCM-US 5 108714063 108714063 single base substitution G A downstream_gene_variant SKCM-US 5 108714063 108714063 single base substitution G A synonymous_variant F375F 1125C>T SKCM-US 5 108714072 108714072 single base substitution G C downstream_gene_variant SKCM-US 5 108714072 108714072 single base substitution G C missense_variant D372E 1116C>G STAD-US 5 108672997 108672997 single base substitution C A missense_variant A688S 2062G>T STAD-US 5 108698688 108698688 single base substitution C A missense_variant W502L 1505G>T STAD-US 5 108698724 108698724 single base substitution C A splice_acceptor_variant STAD-US 5 108704318 108704318 single base substitution T C synonymous_variant L471L 1413A>G STAD-US 5 108717314 108717314 single base substitution G T downstream_gene_variant STAD-US 5 108717314 108717314 single base substitution G T exon_variant STAD-US 5 108717314 108717314 single base substitution G T missense_variant A41D 122C>A STAD-US 5 108719145 108719145 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 5 108719145 108719145 single base substitution G A exon_variant UCEC-US 5 108673058 108673058 single base substitution C A splice_acceptor_variant UCEC-US 5 108679903 108679903 single base substitution A C missense_variant I663M 1989T>G UCEC-US 5 108679927 108679927 single base substitution G T missense_variant F655L 1965C>A UCEC-US 5 108680446 108680446 single base substitution A G synonymous_variant I613I 1839T>C UCEC-US 5 108698637 108698637 single base substitution G T missense_variant P519H 1556C>A UCEC-US 5 108713915 108713915 single base substitution C A downstream_gene_variant UCEC-US 5 108713915 108713915 single base substitution C A missense_variant D425Y 1273G>T UCEC-US 5 108714327 108714327 single base substitution G T downstream_gene_variant UCEC-US 5 108714327 108714327 single base substitution G T synonymous_variant A287A 861C>A UCEC-US 5 108714460 108714460 single base substitution G A downstream_gene_variant UCEC-US 5 108714460 108714460 single base substitution G A missense_variant A243V 728C>T UCEC-US 5 108714469 108714469 single base substitution T G downstream_gene_variant UCEC-US 5 108714469 108714469 single base substitution T G missense_variant K240T 719A>C UCEC-US 5 108714806 108714806 single base substitution C T downstream_gene_variant UCEC-US 5 108714806 108714806 single base substitution C T missense_variant G128S 382G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PT55 COSM5944083 c.1653-4delT p.? Unknown 5:109356030-109356030 - B61-Tumor COSM1753901 c.907G>A p.E303K Substitution - Missense 5:109378580-109378580 - TCGA-EB-A431-01 COSM3607476 c.2122C>T p.P708S Substitution - Missense 5:109337236-109337236 - SJOS005_D COSM5023351 c.158A>G p.E53G Substitution - Missense 5:109381577-109381577 - 2292387 COSM4610756 c.1787C>T p.S596F Substitution - Missense 5:109344797-109344797 - TCGA-18-3419-01 COSM735118 c.580C>T p.Q194* Substitution - Nonsense 5:109378907-109378907 - CSCC-56-T COSM4451384 c.1191A>T p.E397D Substitution - Missense 5:109378296-109378296 - 216 COSM4424688 c.1653-4_1653-3insT p.? Unknown 5:109356029-109356030 - TCGA-B5-A0JY-01 COSM1059405 c.1989T>G p.I663M Substitution - Missense 5:109344202-109344202 - HN_62421 COSM125387 c.260C>G p.S87C Substitution - Missense 5:109379227-109379227 - Pat_41_B COSM5867016 c.1481C>T p.S494F Substitution - Missense 5:109363011-109363011 - J36_T COSM3946723 c.2070C>G p.S690S Substitution - coding silent 5:109337288-109337288 - T3094 COSM4714651 c.171T>G p.G57G Substitution - coding silent 5:109381564-109381564 - TCGA-FD-A3N5-01 COSM1310422 c.1826G>C p.S609T Substitution - Missense 5:109344758-109344758 - TCGA-C8-A12P-01 COSM448410 c.809A>T p.Q270L Substitution - Missense 5:109378678-109378678 - PDA_029 COSM4003252 c.890A>G p.Q297R Substitution - Missense 5:109378597-109378597 - PDA_020 COSM4999036 c.1732G>A p.A578T Substitution - Missense 5:109355947-109355947 - 8044820 COSM1158075 c.1950G>T p.L650F Substitution - Missense 5:109344241-109344241 - LUAD-B01145 COSM333447 c.1765-1G>T p.? Unknown 5:109344820-109344820 - 2492730 COSM5729005 c.1379C>T p.T460I Substitution - Missense 5:109368651-109368651 - T3090 COSM4714649 c.1765-3_1765-2insC p.? Unknown 5:109344821-109344822 - C008 COSM5523476 c.308C>T p.P103L Substitution - Missense 5:109379179-109379179 - TCGA-AC-A2B8-01 COSM3826527 c.680G>A p.R227K Substitution - Missense 5:109378807-109378807 - TCGA-D1-A17R-01 COSM1059411 c.728C>T p.A243V Substitution - Missense 5:109378759-109378759 - TCGA-D3-A51T-06 COSM1432054 c.2069C>T p.S690F Substitution - Missense 5:109337289-109337289 - TCGA-CZ-5459-01 COSM481731 c.1289A>G p.E430G Substitution - Missense 5:109368741-109368741 - TCGA-06-0747 COSM2151775 c.1792G>T p.A598S Substitution - Missense 5:109344792-109344792 - 585223 COSM322659 c.1517A>G p.N506S Substitution - Missense 5:109362975-109362975 - TCGA-B5-A11E-01 COSM1059408 c.1556C>A p.P519H Substitution - Missense 5:109362936-109362936 - TCGA-D8-A1XQ-01 COSM3826526 c.1682G>A p.G561E Substitution - Missense 5:109355997-109355997 - T1182 COSM4714652 c.64C>A p.P22T Substitution - Missense 5:109381671-109381671 - PT37 COSM3826527 c.680G>A p.R227K Substitution - Missense 5:109378807-109378807 - TCGA-A8-A08R-01 COSM448409 c.1393G>C p.D465H Substitution - Missense 5:109368637-109368637 - TCGA-FU-A3HY-01 COSM4838636 c.1419T>C p.S473S Substitution - coding silent 5:109368611-109368611 - TCGA-E9-A1R7-01 COSM1486202 c.1108G>A p.E370K Substitution - Missense 5:109378379-109378379 - BD121T COSM5515073 c.1453T>G p.L485V Substitution - Missense 5:109368577-109368577 - 3498_T COSM3946725 c.1080C>T p.L360L Substitution - coding silent 5:109378407-109378407 - TCGA-AG-A02X-01 COSM290693 c.1951C>G p.P651A Substitution - Missense 5:109344240-109344240 - YUPAT COSM1696018 c.845C>T p.S282L Substitution - Missense 5:109378642-109378642 - PT46 COSM5928742 c.658C>T p.P220S Substitution - Missense 5:109378829-109378829 - TCGA-AM-5821-01 COSM3696856 c.316G>A p.G106S Substitution - Missense 5:109379171-109379171 - OSCC-GB_00150111 COSM3715070 c.2078C>T p.P693L Substitution - Missense 5:109337280-109337280 - TCGA-BR-6452-01 COSM4127044 c.122C>A p.A41D Substitution - Missense 5:109381613-109381613 - PTC-7C COSM4159349 c.1206A>G p.A402A Substitution - coding silent 5:109378281-109378281 - TCGA-AP-A0LM-01 COSM1059407 c.1839T>C p.I613I Substitution - coding silent 5:109344745-109344745 - 585260 COSM326161 c.1312G>T p.A438S Substitution - Missense 5:109368718-109368718 - SNUH_G10_S1 COSM4003251 c.1218G>A p.E406E Substitution - coding silent 5:109378269-109378269 - TCGA-EB-A431-01 COSM3607478 c.1719C>T p.F573F Substitution - coding silent 5:109355960-109355960 - T263 COSM4714648 c.1940C>G p.A647G Substitution - Missense 5:109344251-109344251 - 169 COSM3729308 c.1430G>A p.G477D Substitution - Missense 5:109368600-109368600 - LUAD-F00162 COSM366531 c.1783G>T p.E595* Substitution - Nonsense 5:109344801-109344801 - TC32 COSM4585324 c.1770T>C p.A590A Substitution - coding silent 5:109344814-109344814 - LC_C6 COSM1186804 c.1301G>T p.G434V Substitution - Missense 5:109368729-109368729 - TCGA-BS-A0UF-01 COSM1059412 c.719A>C p.K240T Substitution - Missense 5:109378768-109378768 - TCGA-EE-A29L-06 COSM3607477 c.2013C>T p.C671C Substitution - coding silent 5:109337345-109337345 - RK029_C01 COSM1633876 c.1437A>G p.E479E Substitution - coding silent 5:109368593-109368593 - QC2-09-T2 COSM5652135 c.1316C>T p.S439F Substitution - Missense 5:109368714-109368714 - SW948 COSM2990463 c.857C>T p.A286V Substitution - Missense 5:109378630-109378630 - ASHPC_0001_Pa_P_2 COSM3781218 c.1469+2T>C p.? Unknown 5:109368559-109368559 - 96T COSM109361 c.110G>A p.G37E Substitution - Missense 5:109381625-109381625 - 15T COSM3715070 c.2078C>T p.P693L Substitution - Missense 5:109337280-109337280 - T3094 COSM4714647 c.2089G>A p.A697T Substitution - Missense 5:109337269-109337269 - SNUH_G10_S1 COSM4003252 c.890A>G p.Q297R Substitution - Missense 5:109378597-109378597 - TCGA-06-0747-01 COSM2151775 c.1792G>T p.A598S Substitution - Missense 5:109344792-109344792 - TCGA-AP-A059-01 COSM1059410 c.861C>A p.A287A Substitution - coding silent 5:109378626-109378626 - ESO-916 COSM1262258 c.1869A>G p.E623E Substitution - coding silent 5:109344715-109344715 - CCK81 COSM2990471 c.402C>T p.S134S Substitution - coding silent 5:109379085-109379085 - TCGA-CG-5723-01 COSM4127040 c.2062G>T p.A688S Substitution - Missense 5:109337296-109337296 - HCT116 COSM2990444 c.1677A>G p.G559G Substitution - coding silent 5:109356002-109356002 - RK006_C01 COSM1633877 c.1172A>G p.N391S Substitution - Missense 5:109378315-109378315 - T2269 COSM4714650 c.619A>C p.R207R Substitution - coding silent 5:109378868-109378868 - CHC205T COSM4407229 c.2113G>A p.A705T Substitution - Missense 5:109337245-109337245 - 254891 COSM3724659 c.2086G>C p.D696H Substitution - Missense 5:109337272-109337272 - 223_T COSM3946724 c.1394A>G p.D465G Substitution - Missense 5:109368636-109368636 - TCGA-GF-A6C9-06 COSM4900171 c.1125C>T p.F375F Substitution - coding silent 5:109378362-109378362 - 2521259 COSM5890133 c.236C>T p.S79F Substitution - Missense 5:109379251-109379251 - TCGA-D7-6527-01 COSM4127043 c.1413A>G p.L471L Substitution - coding silent 5:109368617-109368617 - CHC892T COSM4797158 c.2001G>A p.K667K Substitution - coding silent 5:109344190-109344190 - TCGA-AP-A056-01 COSM1059406 c.1965C>A p.F655L Substitution - Missense 5:109344226-109344226 - TCGA-D7-8578-01 COSM4127041 c.1505G>T p.W502L Substitution - Missense 5:109362987-109362987 - TCGA-AP-A0LM-01 COSM1059409 c.1273G>T p.D425Y Substitution - Missense 5:109378214-109378214 - RK029_C COSM1633876 c.1437A>G p.E479E Substitution - coding silent 5:109368593-109368593 - TCGA-JW-A69B-01 COSM4829613 c.841C>A p.H281N Substitution - Missense 5:109378646-109378646 - CHC1754T COSM4792891 c.1664G>T p.G555V Substitution - Missense 5:109356015-109356015 - TCGA-CC-A7IF-01 COSM4915485 c.917A>G p.H306R Substitution - Missense 5:109378570-109378570 - 91 COSM3723059 c.2072C>G p.S691C Substitution - Missense 5:109337286-109337286 - 587220 COSM1220702 c.2027G>A p.R676H Substitution - Missense 5:109337331-109337331 - TCGA-B5-A11E-01 COSM1059413 c.382G>A p.G128S Substitution - Missense 5:109379105-109379105 - TCGA-BW-A5NO-01 COSM4933194 c.313T>G p.C105G Substitution - Missense 5:109379174-109379174 - 3101B7_041_T COSM5039027 c.1690G>T p.E564* Substitution - Nonsense 5:109355989-109355989 - TCGA-AA-3510-01 COSM1432056 c.561C>T p.V187V Substitution - coding silent 5:109378926-109378926 - TCGA-D1-A16B-01 COSM1059404 c.2002-1G>T p.? Unknown 5:109337357-109337357 - TCGA-AA-A010-01 COSM284038 c.233-1G>A p.? Unknown 5:109379255-109379255 - 8015259 COSM3393065 c.31+1G>A p.? Unknown 5:109383402-109383402 - TCGA-13-0913-01 COSM72189 c.138A>C p.K46N Substitution - Missense 5:109381597-109381597 - TCGA-MI-A75E-01 COSM4939776 c.307C>A p.P103T Substitution - Missense 5:109379180-109379180 - PACA37 COSM1158075 c.1950G>T p.L650F Substitution - Missense 5:109344241-109344241 - S02246 COSM5679114 c.855T>A p.D285E Substitution - Missense 5:109378632-109378632 - HCC074T COSM5810298 c.2050G>T p.E684* Substitution - Nonsense 5:109337308-109337308 - 587222 COSM1220703 c.1926T>G p.I642M Substitution - Missense 5:109344265-109344265 - 46M COSM5588651 c.1670C>A p.A557E Substitution - Missense 5:109356009-109356009 - TCGA-HT-7609-01 COSM3975118 c.134T>G p.F45C Substitution - Missense 5:109381601-109381601 - ESCC_159 COSM5647146 c.1873C>T p.H625Y Substitution - Missense 5:109344711-109344711 - TCGA-BR-6452-01 COSM4127042 c.1470-1G>T p.? Unknown 5:109363023-109363023 - TCGA-B4-5377-01 COSM481732 c.77G>T p.G26V Substitution - Missense 5:109381658-109381658 - TCGA-EE-A20F-06 COSM3607480 c.1116C>G p.D372E Substitution - Missense 5:109378371-109378371 - YUKADI COSM1696017 c.2066C>A p.P689H Substitution - Missense 5:109337292-109337292 - B61 COSM1753901 c.907G>A p.E303K Substitution - Missense 5:109378580-109378580 - RK006_C1 COSM1633877 c.1172A>G p.N391S Substitution - Missense 5:109378315-109378315 - CHC1754T COSM4792891 c.1664G>T p.G555V Substitution - Missense 5:109356015-109356015 - TCGA-CM-4743-01 COSM1432054 c.2069C>T p.S690F Substitution - Missense 5:109337289-109337289 - TCGA-B2-3923-01 COSM1495875 c.1539T>G p.S513R Substitution - Missense 5:109362953-109362953 - pfg143T COSM4759977 c.598A>G p.T200A Substitution - Missense 5:109378889-109378889 - 090T COSM1731307 c.2027G>T p.R676L Substitution - Missense 5:109337331-109337331 - TCGA-46-6026-01 COSM735119 c.989A>C p.E330A Substitution - Missense 5:109378498-109378498 - sysucc-311T COSM5466244 c.1393G>T p.D465Y Substitution - Missense 5:109368637-109368637 - WA53 COSM236826 c.1514A>G p.Y505C Substitution - Missense 5:109362978-109362978 - LUAD_E00522 COSM353312 c.170G>A p.G57D Substitution - Missense 5:109381565-109381565 - Pat_41_B COSM5867017 c.311C>T p.T104I Substitution - Missense 5:109379176-109379176 - CHC892T COSM4797158 c.2001G>A p.K667K Substitution - coding silent 5:109344190-109344190 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.483036 5q21.3 2393244|CGAP|BC030826|A/G|coding|Arg297Gln|1005|Validated; 2393245|CGAP|BC030826|C/T|non-coding||99|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F45C c.134T>G 5 108717302 LGG ATCT - IntronicDeletion . c.1764+2604_1764+2607delGATA 5 108689010 CLL C A 5-UTRSNV . c.1-71G>T 5 108719205 RCCC C A Missense p.A438S c.1312G>T 5 108704419 SCLC C A Missense p.A598S c.1792G>T 5 108680493 GBM C A Missense p.G26V c.77G>T 5 108717359 RCCC C A SpliceAcceptorSNV . c.2002-1G>T 5 108673058 UCEC C G Missense p.D465H c.1393G>C 5 108704338 BRCA C G Missense p.S609T c.1826G>C 5 108680459 BLCA C T Missense p.D558N c.1672G>A 5 108691708 HNSC C T Missense p.E370K c.1108G>A 5 108714080 BRCA G A Missense p.A243V c.728C>T 5 108714460 UCEC G A Missense p.H250Y c.748C>T 5 108714440 CM G A Missense p.P708L c.2123C>T 5 108672936 CM G A Nonsense p.Q194* c.580C>T 5 108714608 LUSC G A Synonymous p.C671C c.2013C>T 5 108673046 CM G C Missense p.D372E c.1116C>G 5 108714072 CM G C Missense p.P651A c.1951C>G 5 108679941 COREAD G C Missense p.S87C c.260C>G 5 108714928 HNSC T A Missense p.K610M c.1829A>T 5 108680456 LUAD T A Missense p.Q269L c.806A>T 5 108714382 LUAD T A Missense p.Q270L c.809A>T 5 108714379 BRCA T A SpliceAcceptorSNV . c.1284-2A>T 5 108704449 LUAD T C 3-UTRSNV . c.2124+2001A>G 5 108670934 HC TC - IntronicDeletion . c.1764+2570_1764+2571delGA 5 108689045 CLL T C Missense p.H336R c.1007A>G 5 108714181 HNSC T C Missense p.N391S c.1172A>G 5 108714016 HC T C Missense p.N506S c.1517A>G 5 108698676 BRCA T C Missense p.N506S c.1517A>G 5 108698676 SCLC T C Missense p.T30A c.88A>G 5 108717348 LUAD T C Synonymous p.E479E c.1437A>G 5 108704294 HC T C Synonymous p.E623E c.1869A>G 5 108680416 ESCA T G Missense p.E330A c.989A>C 5 108714199 LUSC T G Missense p.K46N c.138A>C 5 108717298 OV