Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 224581534 224581534 + Missense_Mutation SNP A A C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 g.chr1:224581534A>C c.1956T>G c.(1954-1956)atT>atG p.I652M BLCA 1 224586674 224586674 + Silent SNP C C T TCGA-ZF-AA52-01A-12D-A391-08 TCGA-ZF-AA52-10A-01D-A394-08 g.chr1:224586674C>T c.1482G>A c.(1480-1482)ttG>ttA p.L494L BLCA 1 224588738 224588738 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 g.chr1:224588738G>A c.1333C>T c.(1333-1335)Cat>Tat p.H445Y BLCA 1 224599169 224599169 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 g.chr1:224599169C>G c.1118G>C c.(1117-1119)gGa>gCa p.G373A BLCA 1 224606026 224606026 + Missense_Mutation SNP G G A TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 g.chr1:224606026G>A c.955C>T c.(955-957)Cac>Tac p.H319Y BLCA 1 224606038 224606038 + Missense_Mutation SNP G G A TCGA-K4-AAQO-01A-11D-A38G-08 TCGA-K4-AAQO-10A-01D-A38J-08 g.chr1:224606038G>A c.943C>T c.(943-945)Cgg>Tgg p.R315W BLCA 1 224619446 224619446 + Missense_Mutation SNP G G C TCGA-XF-A9SZ-01A-11D-A391-08 TCGA-XF-A9SZ-10A-01D-A394-08 g.chr1:224619446G>C c.460C>G c.(460-462)Cgt>Ggt p.R154G BLCA 1 224619465 224619465 + Silent SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 g.chr1:224619465G>A c.441C>T c.(439-441)ctC>ctT p.L147L BRCA 1 224581617 224581617 + Missense_Mutation SNP T T C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 g.chr1:224581617T>C c.1873A>G c.(1873-1875)Att>Gtt p.I625V BRCA 1 224592164 224592164 + Missense_Mutation SNP C C G TCGA-AN-A0FV-01A-11W-A019-09 TCGA-AN-A0FV-10A-01W-A021-09 g.chr1:224592164C>G c.1267G>C c.(1267-1269)Gac>Cac p.D423H BRCA 1 224592213 224592213 + Silent SNP A A G TCGA-A2-A0EQ-01A-11W-A050-09 TCGA-A2-A0EQ-10A-01W-A055-09 g.chr1:224592213A>G c.1218T>C c.(1216-1218)taT>taC p.Y406Y BRCA 1 224607232 224607232 + Missense_Mutation SNP C C A TCGA-AO-A12H-01A-11D-A10Y-09 TCGA-AO-A12H-10A-01D-A110-09 g.chr1:224607232C>A c.850G>T c.(850-852)Gat>Tat p.D284Y CESC 1 224612233 224612233 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr1:224612233G>T c.751C>A c.(751-753)Cat>Aat p.H251N CESC 1 224621580 224621580 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr1:224621580G>A c.228C>T c.(226-228)gtC>gtT p.V76V CHOL 1 224599141 224599141 + Nonsense_Mutation SNP C C T TCGA-W5-AA2U-01A-11D-A417-09 TCGA-W5-AA2U-10A-01D-A41A-09 g.chr1:224599141C>T c.1146G>A c.(1144-1146)tgG>tgA p.W382* CHOL 1 224605987 224605987 + Missense_Mutation SNP G G T TCGA-4G-AAZO-01A-12D-A417-09 TCGA-4G-AAZO-11A-11D-A41A-09 g.chr1:224605987G>T c.994C>A c.(994-996)Ctg>Atg p.L332M COAD 1 224581669 224581669 + Silent SNP C C T TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr1:224581669C>T c.1821G>A c.(1819-1821)gcG>gcA p.A607A COAD 1 224585868 224585868 + Nonsense_Mutation SNP G G A TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr1:224585868G>A c.1705C>T c.(1705-1707)Caa>Taa p.Q569* COAD 1 224586628 224586628 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:224586628G>A c.1528C>T c.(1528-1530)Cgg>Tgg p.R510W COAD 1 224588749 224588750 + Frame_Shift_Ins INS - - T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr1:224588749_224588750insT c.1321_1322insA c.(1321-1323)atgfs p.M441fs COAD 1 224592229 224592229 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr1:224592229G>A c.1202C>T c.(1201-1203)gCt>gTt p.A401V COAD 1 224599228 224599228 + Missense_Mutation SNP C C A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr1:224599228C>A c.1059G>T c.(1057-1059)gaG>gaT p.E353D COAD 1 224599260 224599260 + Missense_Mutation SNP A A T TCGA-AA-3930-01A-01W-0995-10 TCGA-AA-3930-10A-01W-0995-10 g.chr1:224599260A>T c.1027T>A c.(1027-1029)Ttc>Atc p.F343I COAD 1 224612238 224612238 + Missense_Mutation SNP C C T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr1:224612238C>T c.746G>A c.(745-747)cGc>cAc p.R249H COAD 1 224612274 224612274 + Missense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr1:224612274C>T c.710G>A c.(709-711)cGc>cAc p.R237H COAD 1 224619238 224619240 + In_Frame_Del DEL GAG GAG - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr1:224619238_224619240delGAG c.566_568delCTC c.(565-570)cctcat>cat p.P189del COAD 1 224619251 224619251 + Silent SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:224619251T>C c.555A>G c.(553-555)ttA>ttG p.L185L COADREAD 1 224581669 224581669 + Silent SNP C C T TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr1:224581669C>T c.1821G>A c.(1819-1821)gcG>gcA p.A607A COADREAD 1 224585850 224585850 + Missense_Mutation SNP G G T TCGA-DY-A1H8-01A-21D-A152-10 TCGA-DY-A1H8-10A-01D-A152-10 g.chr1:224585850G>T c.1723C>A c.(1723-1725)Cat>Aat p.H575N COADREAD 1 224585868 224585868 + Nonsense_Mutation SNP G G A TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr1:224585868G>A c.1705C>T c.(1705-1707)Caa>Taa p.Q569* COADREAD 1 224586628 224586628 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:224586628G>A c.1528C>T c.(1528-1530)Cgg>Tgg p.R510W COADREAD 1 224588749 224588750 + Frame_Shift_Ins INS - - T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr1:224588749_224588750insT c.1321_1322insA c.(1321-1323)atgfs p.M441fs COADREAD 1 224592229 224592229 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr1:224592229G>A c.1202C>T c.(1201-1203)gCt>gTt p.A401V COADREAD 1 224599228 224599228 + Missense_Mutation SNP C C A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr1:224599228C>A c.1059G>T c.(1057-1059)gaG>gaT p.E353D COADREAD 1 224599260 224599260 + Missense_Mutation SNP A A T TCGA-AA-3930-01A-01W-0995-10 TCGA-AA-3930-10A-01W-0995-10 g.chr1:224599260A>T c.1027T>A c.(1027-1029)Ttc>Atc p.F343I COADREAD 1 224612238 224612238 + Missense_Mutation SNP C C T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr1:224612238C>T c.746G>A c.(745-747)cGc>cAc p.R249H COADREAD 1 224612245 224612245 + Missense_Mutation SNP T T C TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr1:224612245T>C c.739A>G c.(739-741)Aca>Gca p.T247A COADREAD 1 224612274 224612274 + Missense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr1:224612274C>T c.710G>A c.(709-711)cGc>cAc p.R237H COADREAD 1 224619238 224619240 + In_Frame_Del DEL GAG GAG - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr1:224619238_224619240delGAG c.566_568delCTC c.(565-570)cctcat>cat p.P189del COADREAD 1 224619251 224619251 + Silent SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:224619251T>C c.555A>G c.(553-555)ttA>ttG p.L185L DLBC 1 224607296 224607296 + Silent SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr1:224607296T>C c.786A>G c.(784-786)gcA>gcG p.A262A ESCA 1 224581656 224581656 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 g.chr1:224581656G>T c.1834C>A c.(1834-1836)Cac>Aac p.H612N ESCA 1 224621665 224621665 + Nonsense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 g.chr1:224621665G>T c.143C>A c.(142-144)tCg>tAg p.S48* GBM 1 224586247 224586247 + Silent SNP G G A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 g.chr1:224586247G>A c.1614C>T c.(1612-1614)ggC>ggT p.G538G GBMLGG 1 224586247 224586247 + Silent SNP G G A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 g.chr1:224586247G>A c.1614C>T c.(1612-1614)ggC>ggT p.G538G GBMLGG 1 224619390 224619390 + Nonsense_Mutation SNP C C T TCGA-HW-7495-01A-11D-2024-08 TCGA-HW-7495-10A-01D-2024-08 g.chr1:224619390C>T c.516G>A c.(514-516)tgG>tgA p.W172* GBMLGG 1 224621758 224621760 + In_Frame_Del DEL CCG CCG - TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 g.chr1:224621758_224621760delCCG c.48_50delCGG c.(46-51)ggcggt>ggt p.16_17GG>G HNSC 1 224585902 224585902 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr1:224585902G>C c.1671C>G c.(1669-1671)gaC>gaG p.D557E HNSC 1 224607315 224607315 + Missense_Mutation SNP T T C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 g.chr1:224607315T>C c.767A>G c.(766-768)tAt>tGt p.Y256C KIPAN 1 224586648 224586648 + Nonsense_Mutation SNP G G T TCGA-BP-4790-01A-01D-1373-10 TCGA-BP-4790-11A-01D-1373-10 g.chr1:224586648G>T c.1508C>A c.(1507-1509)tCa>tAa p.S503* KIPAN 1 224592221 224592221 + Missense_Mutation SNP C C T TCGA-AK-3453-01A-01D-0966-08 TCGA-AK-3453-10A-01D-0966-08 g.chr1:224592221C>T c.1210G>A c.(1210-1212)Gtt>Att p.V404I KIPAN 1 224599175 224599175 + Missense_Mutation SNP G G T TCGA-BP-4991-01A-01D-1462-08 TCGA-BP-4991-11A-01D-1462-08 g.chr1:224599175G>T c.1112C>A c.(1111-1113)gCa>gAa p.A371E KIRC 1 224586648 224586648 + Nonsense_Mutation SNP G G T TCGA-BP-4790-01A-01D-1373-10 TCGA-BP-4790-11A-01D-1373-10 g.chr1:224586648G>T c.1508C>A c.(1507-1509)tCa>tAa p.S503* KIRC 1 224592221 224592221 + Missense_Mutation SNP C C T TCGA-AK-3453-01A-01D-0966-08 TCGA-AK-3453-10A-01D-0966-08 g.chr1:224592221C>T c.1210G>A c.(1210-1212)Gtt>Att p.V404I KIRC 1 224599175 224599175 + Missense_Mutation SNP G G T TCGA-BP-4991-01A-01D-1462-08 TCGA-BP-4991-11A-01D-1462-08 g.chr1:224599175G>T c.1112C>A c.(1111-1113)gCa>gAa p.A371E LGG 1 224619390 224619390 + Nonsense_Mutation SNP C C T TCGA-HW-7495-01A-11D-2024-08 TCGA-HW-7495-10A-01D-2024-08 g.chr1:224619390C>T c.516G>A c.(514-516)tgG>tgA p.W172* LGG 1 224621758 224621760 + In_Frame_Del DEL CCG CCG - TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 g.chr1:224621758_224621760delCCG c.48_50delCGG c.(46-51)ggcggt>ggt p.16_17GG>G LIHC 1 224585919 224585919 + Missense_Mutation SNP A A T TCGA-BC-A10Q-01A-11D-A12Z-10 TCGA-BC-A10Q-11A-11D-A12Z-10 g.chr1:224585919A>T c.1654T>A c.(1654-1656)Tta>Ata p.L552I LIHC 1 224588733 224588733 + Silent SNP T T C TCGA-DD-A39X-01A-11D-A20W-10 TCGA-DD-A39X-11A-11D-A20W-10 g.chr1:224588733T>C c.1338A>G c.(1336-1338)gaA>gaG p.E446E LIHC 1 224619473 224619473 + Missense_Mutation SNP C C A TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr1:224619473C>A c.433G>T c.(433-435)Gat>Tat p.D145Y LIHC 1 224621626 224621626 + Missense_Mutation SNP G G A TCGA-CC-A3MA-01A-11D-A20W-10 TCGA-CC-A3MA-10A-01D-A20W-10 g.chr1:224621626G>A c.182C>T c.(181-183)cCt>cTt p.P61L LUAD 1 224586245 224586245 + Missense_Mutation SNP C C T TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr1:224586245C>T c.1616G>A c.(1615-1617)cGa>cAa p.R539Q LUAD 1 224605976 224605976 + Silent SNP G G A TCGA-44-7660-01A-11D-2063-08 TCGA-44-7660-10A-01D-2063-08 g.chr1:224605976G>A c.1005C>T c.(1003-1005)gaC>gaT p.D335D LUAD 1 224621773 224621775 + In_Frame_Del DEL CCT CCT - TCGA-99-8033-01A-11D-2238-08 TCGA-99-8033-10A-01D-2238-08 g.chr1:224621773_224621775delCCT c.33_35delAGG c.(31-36)ggaggt>ggt p.11_12GG>G LUSC 1 224577560 224577560 + Nonsense_Mutation SNP C C A TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 g.chr1:224577560C>A c.1963G>T c.(1963-1965)Gaa>Taa p.E655* LUSC 1 224599262 224599262 + Missense_Mutation SNP T T A TCGA-66-2763-01A-01D-1522-08 TCGA-66-2763-11A-01D-1522-08 g.chr1:224599262T>A c.1025A>T c.(1024-1026)cAg>cTg p.Q342L OV 1 224607296 224607296 + Silent SNP T T G TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 g.chr1:224607296T>G c.786A>C c.(784-786)gcA>gcC p.A262A PAAD 1 224599257 224599257 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:224599257G>A c.1030C>T c.(1030-1032)Cca>Tca p.P344S PAAD 1 224619244 224619244 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:224619244A>C c.562T>G c.(562-564)Tct>Gct p.S188A PRAD 1 224621758 224621760 + In_Frame_Del DEL CCG CCG - TCGA-HC-7821-01A-12D-2114-08 TCGA-HC-7821-10A-01D-2115-08 g.chr1:224621758_224621760delCCG c.48_50delCGG c.(46-51)ggcggt>ggt p.16_17GG>G PRAD 1 224621773 224621775 + In_Frame_Del DEL CCT CCT - TCGA-EJ-7317-01A-31D-2114-08 TCGA-EJ-7317-10A-01D-2114-08 g.chr1:224621773_224621775delCCT c.33_35delAGG c.(31-36)ggaggt>ggt p.11_12GG>G READ 1 224585850 224585850 + Missense_Mutation SNP G G T TCGA-DY-A1H8-01A-21D-A152-10 TCGA-DY-A1H8-10A-01D-A152-10 g.chr1:224585850G>T c.1723C>A c.(1723-1725)Cat>Aat p.H575N READ 1 224612245 224612245 + Missense_Mutation SNP T T C TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr1:224612245T>C c.739A>G c.(739-741)Aca>Gca p.T247A SKCM 1 224581617 224581617 + Missense_Mutation SNP T T C TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr1:224581617T>C c.1873A>G c.(1873-1875)Att>Gtt p.I625V SKCM 1 224619204 224619204 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 g.chr1:224619204G>A c.602C>T c.(601-603)tCt>tTt p.S201F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US 1 224619440 224619440 single base substitution C G exon_variant AML-US 1 224619440 224619440 single base substitution C G intron_variant AML-US 1 224619440 224619440 single base substitution C G missense_variant E156Q 466G>C AML-US 1 224619440 224619440 single base substitution C G missense_variant E9Q 25G>C BLCA-US 1 224581534 224581534 single base substitution A C 3_prime_UTR_variant BLCA-US 1 224581534 224581534 single base substitution A C downstream_gene_variant BLCA-US 1 224581534 224581534 single base substitution A C missense_variant I285M 855T>G BLCA-US 1 224581534 224581534 single base substitution A C missense_variant I505M 1515T>G BLCA-US 1 224581534 224581534 single base substitution A C missense_variant I652M 1956T>G BLCA-US 1 224588738 224588738 single base substitution G A 3_prime_UTR_variant BLCA-US 1 224588738 224588738 single base substitution G A missense_variant H298Y 892C>T BLCA-US 1 224588738 224588738 single base substitution G A missense_variant H445Y 1333C>T BLCA-US 1 224588738 224588738 single base substitution G A missense_variant H78Y 232C>T BLCA-US 1 224588738 224588738 single base substitution G A upstream_gene_variant BLCA-US 1 224599169 224599169 single base substitution C G 3_prime_UTR_variant BLCA-US 1 224599169 224599169 single base substitution C G downstream_gene_variant BLCA-US 1 224599169 224599169 single base substitution C G missense_variant G226A 677G>C BLCA-US 1 224599169 224599169 single base substitution C G missense_variant G373A 1118G>C BLCA-US 1 224599169 224599169 single base substitution C G missense_variant G6A 17G>C BRCA-EU 1 224568180 224568180 single base substitution G T downstream_gene_variant BRCA-EU 1 224568327 224568328 deletion of <=200bp AC - downstream_gene_variant BRCA-EU 1 224569614 224569614 single base substitution G C downstream_gene_variant BRCA-EU 1 224570642 224570642 single base substitution C T downstream_gene_variant BRCA-EU 1 224571061 224571061 single base substitution C G downstream_gene_variant BRCA-EU 1 224571666 224571666 single base substitution G A downstream_gene_variant BRCA-EU 1 224571833 224571833 single base substitution T A downstream_gene_variant BRCA-EU 1 224573335 224573335 single base substitution C A 3_prime_UTR_variant BRCA-EU 1 224573335 224573335 single base substitution C A downstream_gene_variant BRCA-EU 1 224573969 224573969 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 224573969 224573969 single base substitution C T downstream_gene_variant BRCA-EU 1 224574806 224574806 single base substitution G T 3_prime_UTR_variant BRCA-EU 1 224574806 224574806 single base substitution G T downstream_gene_variant BRCA-EU 1 224574806 224574806 single base substitution G T intron_variant BRCA-EU 1 224576154 224576154 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 224576154 224576154 single base substitution G A downstream_gene_variant BRCA-EU 1 224576154 224576154 single base substitution G A intron_variant BRCA-EU 1 224576486 224576486 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 224576486 224576486 single base substitution C G downstream_gene_variant BRCA-EU 1 224576486 224576486 single base substitution C G intron_variant BRCA-EU 1 224576774 224576774 single base substitution T A 3_prime_UTR_variant BRCA-EU 1 224576774 224576774 single base substitution T A downstream_gene_variant BRCA-EU 1 224576774 224576774 single base substitution T A intron_variant BRCA-EU 1 224577938 224577938 single base substitution C G intron_variant BRCA-EU 1 224577984 224577984 single base substitution G T intron_variant BRCA-EU 1 224580136 224580136 single base substitution T C intron_variant BRCA-EU 1 224580333 224580333 single base substitution A T intron_variant BRCA-EU 1 224581649 224581649 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 224581649 224581649 single base substitution C T downstream_gene_variant BRCA-EU 1 224581649 224581649 single base substitution C T missense_variant R247H 740G>A BRCA-EU 1 224581649 224581649 single base substitution C T missense_variant R467H 1400G>A BRCA-EU 1 224581649 224581649 single base substitution C T missense_variant R614H 1841G>A BRCA-EU 1 224582237 224582237 single base substitution C T downstream_gene_variant BRCA-EU 1 224582237 224582237 single base substitution C T intron_variant BRCA-EU 1 224582435 224582435 single base substitution G C downstream_gene_variant BRCA-EU 1 224582435 224582435 single base substitution G C intron_variant BRCA-EU 1 224584482 224584482 single base substitution G A downstream_gene_variant BRCA-EU 1 224584482 224584482 single base substitution G A intron_variant BRCA-EU 1 224584577 224584577 single base substitution G A downstream_gene_variant BRCA-EU 1 224584577 224584577 single base substitution G A intron_variant BRCA-EU 1 224585090 224585090 single base substitution C T downstream_gene_variant BRCA-EU 1 224585090 224585090 single base substitution C T intron_variant BRCA-EU 1 224585436 224585436 single base substitution C A exon_variant BRCA-EU 1 224585436 224585436 single base substitution C A intron_variant BRCA-EU 1 224585766 224585766 single base substitution C T exon_variant BRCA-EU 1 224585766 224585766 single base substitution C T intron_variant BRCA-EU 1 224585888 224585888 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 224585888 224585888 single base substitution C G exon_variant BRCA-EU 1 224585888 224585888 single base substitution C G missense_variant R195T 584G>C BRCA-EU 1 224585888 224585888 single base substitution C G missense_variant R415T 1244G>C BRCA-EU 1 224585888 224585888 single base substitution C G missense_variant R562T 1685G>C BRCA-EU 1 224586852 224586852 single base substitution G A intron_variant BRCA-EU 1 224587052 224587052 single base substitution C G intron_variant BRCA-EU 1 224587609 224587609 single base substitution A C intron_variant BRCA-EU 1 224587705 224587705 single base substitution G C intron_variant BRCA-EU 1 224588284 224588284 single base substitution G C intron_variant BRCA-EU 1 224588950 224588950 single base substitution G T intron_variant BRCA-EU 1 224588950 224588950 single base substitution G T upstream_gene_variant BRCA-EU 1 224589007 224589007 single base substitution G A intron_variant BRCA-EU 1 224589007 224589007 single base substitution G A upstream_gene_variant BRCA-EU 1 224589659 224589659 single base substitution T A intron_variant BRCA-EU 1 224589659 224589659 single base substitution T A upstream_gene_variant BRCA-EU 1 224589830 224589830 single base substitution C G intron_variant BRCA-EU 1 224589830 224589830 single base substitution C G upstream_gene_variant BRCA-EU 1 224590130 224590130 single base substitution C T intron_variant BRCA-EU 1 224590130 224590130 single base substitution C T upstream_gene_variant BRCA-EU 1 224591546 224591546 single base substitution G A intron_variant BRCA-EU 1 224591546 224591546 single base substitution G A upstream_gene_variant BRCA-EU 1 224594687 224594687 single base substitution G C intron_variant BRCA-EU 1 224595664 224595664 single base substitution G T downstream_gene_variant BRCA-EU 1 224595664 224595664 single base substitution G T intron_variant BRCA-EU 1 224595735 224595735 single base substitution A G downstream_gene_variant BRCA-EU 1 224595735 224595735 single base substitution A G intron_variant BRCA-EU 1 224596547 224596547 single base substitution C T downstream_gene_variant BRCA-EU 1 224596547 224596547 single base substitution C T intron_variant BRCA-EU 1 224596554 224596554 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 224596554 224596554 deletion of <=200bp T - intron_variant BRCA-EU 1 224597884 224597884 single base substitution G T downstream_gene_variant BRCA-EU 1 224597884 224597884 single base substitution G T intron_variant BRCA-EU 1 224598688 224598688 single base substitution C T downstream_gene_variant BRCA-EU 1 224598688 224598688 single base substitution C T intron_variant BRCA-EU 1 224598702 224598702 single base substitution C T downstream_gene_variant BRCA-EU 1 224598702 224598702 single base substitution C T intron_variant BRCA-EU 1 224599576 224599576 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 224599576 224599576 deletion of <=200bp T - intron_variant BRCA-EU 1 224599576 224599576 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 224600328 224600328 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 224600328 224600328 deletion of <=200bp A - intron_variant BRCA-EU 1 224600328 224600328 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 224601147 224601147 single base substitution T A intron_variant BRCA-EU 1 224601147 224601147 single base substitution T A upstream_gene_variant BRCA-EU 1 224602572 224602572 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 224602572 224602572 deletion of <=200bp T - intron_variant BRCA-EU 1 224602572 224602572 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 224603247 224603247 single base substitution C T downstream_gene_variant BRCA-EU 1 224603247 224603247 single base substitution C T intron_variant BRCA-EU 1 224603247 224603247 single base substitution C T upstream_gene_variant BRCA-EU 1 224603428 224603428 single base substitution C T downstream_gene_variant BRCA-EU 1 224603428 224603428 single base substitution C T intron_variant BRCA-EU 1 224603428 224603428 single base substitution C T upstream_gene_variant BRCA-EU 1 224603901 224603901 single base substitution C G downstream_gene_variant BRCA-EU 1 224603901 224603901 single base substitution C G intron_variant BRCA-EU 1 224603901 224603901 single base substitution C G upstream_gene_variant BRCA-EU 1 224604090 224604090 single base substitution C T downstream_gene_variant BRCA-EU 1 224604090 224604090 single base substitution C T intron_variant BRCA-EU 1 224604090 224604090 single base substitution C T upstream_gene_variant BRCA-EU 1 224604484 224604484 single base substitution C T downstream_gene_variant BRCA-EU 1 224604484 224604484 single base substitution C T intron_variant BRCA-EU 1 224606592 224606592 insertion of <=200bp - A downstream_gene_variant BRCA-EU 1 224606592 224606592 insertion of <=200bp - A intron_variant BRCA-EU 1 224607820 224607820 single base substitution T A intron_variant BRCA-EU 1 224608354 224608354 single base substitution C G intron_variant BRCA-EU 1 224609292 224609292 deletion of <=200bp A - intron_variant BRCA-EU 1 224610527 224610527 single base substitution G C intron_variant BRCA-EU 1 224611127 224611127 single base substitution C T intron_variant BRCA-EU 1 224611159 224611159 single base substitution G T intron_variant BRCA-EU 1 224611623 224611623 single base substitution G T intron_variant BRCA-EU 1 224611720 224611720 single base substitution C T intron_variant BRCA-EU 1 224613250 224613250 single base substitution A C downstream_gene_variant BRCA-EU 1 224613250 224613250 single base substitution A C intron_variant BRCA-EU 1 224613644 224613644 single base substitution C T downstream_gene_variant BRCA-EU 1 224613644 224613644 single base substitution C T intron_variant BRCA-EU 1 224614221 224614221 single base substitution T C downstream_gene_variant BRCA-EU 1 224614221 224614221 single base substitution T C intron_variant BRCA-EU 1 224614903 224614903 single base substitution A G downstream_gene_variant BRCA-EU 1 224614903 224614903 single base substitution A G intron_variant BRCA-EU 1 224614931 224614931 single base substitution G A downstream_gene_variant BRCA-EU 1 224614931 224614931 single base substitution G A intron_variant BRCA-EU 1 224615517 224615517 single base substitution C G downstream_gene_variant BRCA-EU 1 224615517 224615517 single base substitution C G intron_variant BRCA-EU 1 224616321 224616321 single base substitution C T downstream_gene_variant BRCA-EU 1 224616321 224616321 single base substitution C T intron_variant BRCA-EU 1 224617062 224617062 single base substitution A G exon_variant BRCA-EU 1 224617062 224617062 single base substitution A G intron_variant BRCA-EU 1 224617263 224617263 deletion of <=200bp A - exon_variant BRCA-EU 1 224617263 224617263 deletion of <=200bp A - intron_variant BRCA-EU 1 224617748 224617748 deletion of <=200bp T - exon_variant BRCA-EU 1 224617748 224617748 deletion of <=200bp T - intron_variant BRCA-EU 1 224618770 224618770 deletion of <=200bp A - exon_variant BRCA-EU 1 224618770 224618770 deletion of <=200bp A - intron_variant BRCA-EU 1 224618770 224618770 insertion of <=200bp - A exon_variant BRCA-EU 1 224618770 224618770 insertion of <=200bp - A intron_variant BRCA-EU 1 224620729 224620729 single base substitution C G intron_variant BRCA-EU 1 224622786 224622786 single base substitution C T intron_variant BRCA-EU 1 224622786 224622786 single base substitution C T upstream_gene_variant BRCA-EU 1 224623607 224623607 deletion of <=200bp A - intron_variant BRCA-EU 1 224623607 224623607 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 224624206 224624206 single base substitution C G intron_variant BRCA-EU 1 224624206 224624206 single base substitution C G upstream_gene_variant BRCA-EU 1 224625775 224625775 single base substitution C T upstream_gene_variant BRCA-EU 1 224628185 224628185 single base substitution C T upstream_gene_variant BRCA-EU 1 224629073 224629073 single base substitution G A upstream_gene_variant BRCA-FR 1 224571712 224571712 single base substitution G A downstream_gene_variant BRCA-FR 1 224584482 224584482 single base substitution G A downstream_gene_variant BRCA-FR 1 224584482 224584482 single base substitution G A intron_variant BRCA-FR 1 224586852 224586852 single base substitution G A intron_variant BRCA-FR 1 224588064 224588064 single base substitution T C intron_variant BRCA-FR 1 224589659 224589659 single base substitution T A intron_variant BRCA-FR 1 224589659 224589659 single base substitution T A upstream_gene_variant BRCA-FR 1 224589830 224589830 single base substitution C G intron_variant BRCA-FR 1 224589830 224589830 single base substitution C G upstream_gene_variant BRCA-FR 1 224593209 224593209 single base substitution A G intron_variant BRCA-FR 1 224593209 224593209 single base substitution A G upstream_gene_variant BRCA-FR 1 224595664 224595664 single base substitution G T downstream_gene_variant BRCA-FR 1 224595664 224595664 single base substitution G T intron_variant BRCA-FR 1 224604484 224604484 single base substitution C T downstream_gene_variant BRCA-FR 1 224604484 224604484 single base substitution C T intron_variant BRCA-FR 1 224613250 224613250 single base substitution A C downstream_gene_variant BRCA-FR 1 224613250 224613250 single base substitution A C intron_variant BRCA-FR 1 224628185 224628185 single base substitution C T upstream_gene_variant BRCA-FR 1 224628351 224628351 single base substitution T A upstream_gene_variant BRCA-FR 1 224629058 224629058 single base substitution C T upstream_gene_variant BRCA-UK 1 224568327 224568328 deletion of <=200bp AC - downstream_gene_variant BRCA-UK 1 224580333 224580333 single base substitution A T intron_variant BRCA-UK 1 224580480 224580480 single base substitution C T downstream_gene_variant BRCA-UK 1 224580480 224580480 single base substitution C T intron_variant BRCA-UK 1 224587705 224587705 single base substitution G C intron_variant BRCA-UK 1 224590871 224590871 single base substitution C T intron_variant BRCA-UK 1 224590871 224590871 single base substitution C T upstream_gene_variant BRCA-UK 1 224602002 224602002 single base substitution C T intron_variant BRCA-UK 1 224602002 224602002 single base substitution C T upstream_gene_variant BRCA-UK 1 224612542 224612542 single base substitution C G downstream_gene_variant BRCA-UK 1 224612542 224612542 single base substitution C G intron_variant BRCA-UK 1 224617020 224617020 single base substitution G C exon_variant BRCA-UK 1 224617020 224617020 single base substitution G C intron_variant BRCA-UK 1 224621469 224621469 single base substitution G A 5_prime_UTR_variant BRCA-UK 1 224621469 224621469 single base substitution G A exon_variant BRCA-UK 1 224621469 224621469 single base substitution G A intron_variant BRCA-UK 1 224621469 224621469 single base substitution G A synonymous_variant S113S 339C>T BRCA-UK 1 224624575 224624575 single base substitution C T 5_prime_UTR_variant BRCA-UK 1 224624575 224624575 single base substitution C T upstream_gene_variant BRCA-US 1 224581617 224581617 single base substitution T C 3_prime_UTR_variant BRCA-US 1 224581617 224581617 single base substitution T C downstream_gene_variant BRCA-US 1 224581617 224581617 single base substitution T C missense_variant I258V 772A>G BRCA-US 1 224581617 224581617 single base substitution T C missense_variant I478V 1432A>G BRCA-US 1 224581617 224581617 single base substitution T C missense_variant I625V 1873A>G BRCA-US 1 224592164 224592164 single base substitution C G 3_prime_UTR_variant BRCA-US 1 224592164 224592164 single base substitution C G missense_variant D276H 826G>C BRCA-US 1 224592164 224592164 single base substitution C G missense_variant D423H 1267G>C BRCA-US 1 224592164 224592164 single base substitution C G missense_variant D56H 166G>C BRCA-US 1 224592164 224592164 single base substitution C G upstream_gene_variant BRCA-US 1 224592213 224592213 single base substitution A G 3_prime_UTR_variant BRCA-US 1 224592213 224592213 single base substitution A G synonymous_variant Y259Y 777T>C BRCA-US 1 224592213 224592213 single base substitution A G synonymous_variant Y39Y 117T>C BRCA-US 1 224592213 224592213 single base substitution A G synonymous_variant Y406Y 1218T>C BRCA-US 1 224592213 224592213 single base substitution A G upstream_gene_variant BRCA-US 1 224607232 224607232 single base substitution C A 3_prime_UTR_variant BRCA-US 1 224607232 224607232 single base substitution C A downstream_gene_variant BRCA-US 1 224607232 224607232 single base substitution C A exon_variant BRCA-US 1 224607232 224607232 single base substitution C A missense_variant D137Y 409G>T BRCA-US 1 224607232 224607232 single base substitution C A missense_variant D284Y 850G>T BRCA-US 1 224612368 224612368 single base substitution G A downstream_gene_variant BRCA-US 1 224612368 224612368 single base substitution G A exon_variant BRCA-US 1 224612368 224612368 single base substitution G A intron_variant BRCA-US 1 224612368 224612368 single base substitution G A synonymous_variant F211F 633C>T BTCA-JP 1 224577599 224577599 single base substitution C T intron_variant BTCA-JP 1 224581577 224581577 insertion of <=200bp - AC 3_prime_UTR_variant BTCA-JP 1 224581577 224581577 insertion of <=200bp - AC downstream_gene_variant BTCA-JP 1 224581577 224581577 insertion of <=200bp - AC frameshift_variant V271V? BTCA-JP 1 224581577 224581577 insertion of <=200bp - AC frameshift_variant V491V? BTCA-JP 1 224581577 224581577 insertion of <=200bp - AC frameshift_variant V638V? BTCA-JP 1 224586451 224586451 single base substitution A G intron_variant BTCA-JP 1 224586837 224586837 deletion of <=200bp T - intron_variant BTCA-JP 1 224588834 224588834 deletion of <=200bp A - intron_variant BTCA-JP 1 224588834 224588834 deletion of <=200bp A - upstream_gene_variant BTCA-JP 1 224612386 224612386 single base substitution A G downstream_gene_variant BTCA-JP 1 224612386 224612386 single base substitution A G exon_variant BTCA-JP 1 224612386 224612386 single base substitution A G intron_variant BTCA-JP 1 224612386 224612386 single base substitution A G synonymous_variant F205F 615T>C CESC-US 1 224612233 224612233 single base substitution G T 3_prime_UTR_variant CESC-US 1 224612233 224612233 single base substitution G T downstream_gene_variant CESC-US 1 224612233 224612233 single base substitution G T exon_variant CESC-US 1 224612233 224612233 single base substitution G T missense_variant H104N 310C>A CESC-US 1 224612233 224612233 single base substitution G T missense_variant H251N 751C>A CESC-US 1 224621580 224621580 single base substitution G A 5_prime_UTR_variant CESC-US 1 224621580 224621580 single base substitution G A exon_variant CESC-US 1 224621580 224621580 single base substitution G A intron_variant CESC-US 1 224621580 224621580 single base substitution G A synonymous_variant V76V 228C>T CESC-US 1 224621580 224621580 single base substitution G A upstream_gene_variant CLLE-ES 1 224602375 224602375 single base substitution A G downstream_gene_variant CLLE-ES 1 224602375 224602375 single base substitution A G intron_variant CLLE-ES 1 224602375 224602375 single base substitution A G upstream_gene_variant COAD-US 1 224581669 224581669 single base substitution C T 3_prime_UTR_variant COAD-US 1 224581669 224581669 single base substitution C T downstream_gene_variant COAD-US 1 224581669 224581669 single base substitution C T synonymous_variant A240A 720G>A COAD-US 1 224581669 224581669 single base substitution C T synonymous_variant A460A 1380G>A COAD-US 1 224581669 224581669 single base substitution C T synonymous_variant A607A 1821G>A COAD-US 1 224585868 224585868 single base substitution G A 3_prime_UTR_variant COAD-US 1 224585868 224585868 single base substitution G A exon_variant COAD-US 1 224585868 224585868 single base substitution G A stop_gained Q202* 604C>T COAD-US 1 224585868 224585868 single base substitution G A stop_gained Q422* 1264C>T COAD-US 1 224585868 224585868 single base substitution G A stop_gained Q569* 1705C>T COAD-US 1 224588749 224588749 insertion of <=200bp - T 3_prime_UTR_variant COAD-US 1 224588749 224588749 insertion of <=200bp - T frameshift_variant M294I? COAD-US 1 224588749 224588749 insertion of <=200bp - T frameshift_variant M441I? COAD-US 1 224588749 224588749 insertion of <=200bp - T frameshift_variant M74I? COAD-US 1 224588749 224588749 insertion of <=200bp - T upstream_gene_variant COAD-US 1 224612274 224612274 single base substitution C T 3_prime_UTR_variant COAD-US 1 224612274 224612274 single base substitution C T downstream_gene_variant COAD-US 1 224612274 224612274 single base substitution C T exon_variant COAD-US 1 224612274 224612274 single base substitution C T missense_variant R237H 710G>A COAD-US 1 224612274 224612274 single base substitution C T missense_variant R90H 269G>A COAD-US 1 224619238 224619240 deletion of <=200bp GAG - disruptive_inframe_deletion PH189H COAD-US 1 224619238 224619240 deletion of <=200bp GAG - disruptive_inframe_deletion PH42H COAD-US 1 224619238 224619240 deletion of <=200bp GAG - exon_variant COCA-CN 1 224579077 224579077 single base substitution A C intron_variant COCA-CN 1 224586811 224586811 single base substitution C A intron_variant COCA-CN 1 224592176 224592176 single base substitution A G 3_prime_UTR_variant COCA-CN 1 224592176 224592176 single base substitution A G missense_variant C272R 814T>C COCA-CN 1 224592176 224592176 single base substitution A G missense_variant C419R 1255T>C COCA-CN 1 224592176 224592176 single base substitution A G missense_variant C52R 154T>C COCA-CN 1 224592176 224592176 single base substitution A G upstream_gene_variant COCA-CN 1 224619327 224619327 single base substitution G T intron_variant EOPC-DE 1 224578040 224578040 single base substitution T C intron_variant EOPC-DE 1 224627770 224627770 single base substitution G A upstream_gene_variant ESAD-UK 1 224569474 224569474 single base substitution C T downstream_gene_variant ESAD-UK 1 224572963 224572963 single base substitution C G 3_prime_UTR_variant ESAD-UK 1 224572963 224572963 single base substitution C G downstream_gene_variant ESAD-UK 1 224573154 224573154 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 224573154 224573154 single base substitution G A downstream_gene_variant ESAD-UK 1 224574988 224574988 single base substitution C G 3_prime_UTR_variant ESAD-UK 1 224574988 224574988 single base substitution C G downstream_gene_variant ESAD-UK 1 224574988 224574988 single base substitution C G intron_variant ESAD-UK 1 224583104 224583104 single base substitution T C downstream_gene_variant ESAD-UK 1 224583104 224583104 single base substitution T C intron_variant ESAD-UK 1 224584234 224584234 single base substitution C G downstream_gene_variant ESAD-UK 1 224584234 224584234 single base substitution C G intron_variant ESAD-UK 1 224585884 224585884 single base substitution C A 3_prime_UTR_variant ESAD-UK 1 224585884 224585884 single base substitution C A exon_variant ESAD-UK 1 224585884 224585884 single base substitution C A missense_variant K196N 588G>T ESAD-UK 1 224585884 224585884 single base substitution C A missense_variant K416N 1248G>T ESAD-UK 1 224585884 224585884 single base substitution C A missense_variant K563N 1689G>T ESAD-UK 1 224586513 224586513 insertion of <=200bp - C intron_variant ESAD-UK 1 224587688 224587688 deletion of <=200bp A - intron_variant ESAD-UK 1 224588843 224588843 insertion of <=200bp - C intron_variant ESAD-UK 1 224588843 224588843 insertion of <=200bp - C upstream_gene_variant ESAD-UK 1 224593539 224593539 single base substitution C T intron_variant ESAD-UK 1 224593539 224593539 single base substitution C T upstream_gene_variant ESAD-UK 1 224594423 224594423 single base substitution A G intron_variant ESAD-UK 1 224597611 224597611 single base substitution C T downstream_gene_variant ESAD-UK 1 224597611 224597611 single base substitution C T intron_variant ESAD-UK 1 224600255 224600255 single base substitution C T downstream_gene_variant ESAD-UK 1 224600255 224600255 single base substitution C T intron_variant ESAD-UK 1 224600255 224600255 single base substitution C T upstream_gene_variant ESAD-UK 1 224604049 224604049 single base substitution C T downstream_gene_variant ESAD-UK 1 224604049 224604049 single base substitution C T intron_variant ESAD-UK 1 224604049 224604049 single base substitution C T upstream_gene_variant ESAD-UK 1 224606984 224606984 single base substitution A G downstream_gene_variant ESAD-UK 1 224606984 224606984 single base substitution A G intron_variant ESAD-UK 1 224609320 224609320 single base substitution T C intron_variant ESAD-UK 1 224610619 224610619 single base substitution C A intron_variant ESAD-UK 1 224611291 224611291 insertion of <=200bp - C intron_variant ESAD-UK 1 224611888 224611888 single base substitution G T intron_variant ESAD-UK 1 224612779 224612779 single base substitution A C downstream_gene_variant ESAD-UK 1 224612779 224612779 single base substitution A C intron_variant ESAD-UK 1 224616895 224616895 single base substitution C A downstream_gene_variant ESAD-UK 1 224616895 224616895 single base substitution C A intron_variant ESAD-UK 1 224617860 224617860 single base substitution C G exon_variant ESAD-UK 1 224617860 224617860 single base substitution C G intron_variant ESAD-UK 1 224618988 224618988 single base substitution C T exon_variant ESAD-UK 1 224618988 224618988 single base substitution C T intron_variant ESAD-UK 1 224627503 224627503 insertion of <=200bp - T upstream_gene_variant ESAD-UK 1 224629500 224629500 single base substitution A T upstream_gene_variant ESCA-CN 1 224586630 224586630 single base substitution A G 3_prime_UTR_variant ESCA-CN 1 224586630 224586630 single base substitution A G exon_variant ESCA-CN 1 224586630 224586630 single base substitution A G missense_variant I142T 425T>C ESCA-CN 1 224586630 224586630 single base substitution A G missense_variant I362T 1085T>C ESCA-CN 1 224586630 224586630 single base substitution A G missense_variant I509T 1526T>C GBM-US 1 224586247 224586247 single base substitution G A 3_prime_UTR_variant GBM-US 1 224586247 224586247 single base substitution G A exon_variant GBM-US 1 224586247 224586247 single base substitution G A synonymous_variant G171G 513C>T GBM-US 1 224586247 224586247 single base substitution G A synonymous_variant G391G 1173C>T GBM-US 1 224586247 224586247 single base substitution G A synonymous_variant G538G 1614C>T KIRC-US 1 224586648 224586648 single base substitution G T 3_prime_UTR_variant KIRC-US 1 224586648 224586648 single base substitution G T exon_variant KIRC-US 1 224586648 224586648 single base substitution G T stop_gained S136* 407C>A KIRC-US 1 224586648 224586648 single base substitution G T stop_gained S356* 1067C>A KIRC-US 1 224586648 224586648 single base substitution G T stop_gained S503* 1508C>A KIRC-US 1 224599175 224599175 single base substitution G T 3_prime_UTR_variant KIRC-US 1 224599175 224599175 single base substitution G T downstream_gene_variant KIRC-US 1 224599175 224599175 single base substitution G T missense_variant A224E 671C>A KIRC-US 1 224599175 224599175 single base substitution G T missense_variant A371E 1112C>A KIRC-US 1 224599175 224599175 single base substitution G T missense_variant A4E 11C>A KIRC-US 1 224606085 224606085 single base substitution C G 3_prime_UTR_variant KIRC-US 1 224606085 224606085 single base substitution C G downstream_gene_variant KIRC-US 1 224606085 224606085 single base substitution C G exon_variant KIRC-US 1 224606085 224606085 single base substitution C G missense_variant R152P 455G>C KIRC-US 1 224606085 224606085 single base substitution C G missense_variant R299P 896G>C LAML-KR 1 224612488 224612488 single base substitution G A downstream_gene_variant LAML-KR 1 224612488 224612488 single base substitution G A intron_variant LAML-KR 1 224627516 224627516 single base substitution G A upstream_gene_variant LGG-US 1 224621758 224621760 deletion of <=200bp CCG - 5_prime_UTR_variant LGG-US 1 224621758 224621760 deletion of <=200bp CCG - disruptive_inframe_deletion GG16G LGG-US 1 224621758 224621760 deletion of <=200bp CCG - exon_variant LGG-US 1 224621758 224621760 deletion of <=200bp CCG - intron_variant LGG-US 1 224621758 224621760 deletion of <=200bp CCG - upstream_gene_variant LICA-CN 1 224581581 224581581 single base substitution T A 3_prime_UTR_variant LICA-CN 1 224581581 224581581 single base substitution T A downstream_gene_variant LICA-CN 1 224581581 224581581 single base substitution T A missense_variant T270S 808A>T LICA-CN 1 224581581 224581581 single base substitution T A missense_variant T490S 1468A>T LICA-CN 1 224581581 224581581 single base substitution T A missense_variant T637S 1909A>T LICA-CN 1 224606004 224606004 single base substitution T C 3_prime_UTR_variant LICA-CN 1 224606004 224606004 single base substitution T C downstream_gene_variant LICA-CN 1 224606004 224606004 single base substitution T C exon_variant LICA-CN 1 224606004 224606004 single base substitution T C missense_variant N179S 536A>G LICA-CN 1 224606004 224606004 single base substitution T C missense_variant N326S 977A>G LICA-FR 1 224569860 224569860 single base substitution C G downstream_gene_variant LICA-FR 1 224582672 224582672 single base substitution T C downstream_gene_variant LICA-FR 1 224582672 224582672 single base substitution T C intron_variant LICA-FR 1 224583377 224583377 single base substitution G C downstream_gene_variant LICA-FR 1 224583377 224583377 single base substitution G C intron_variant LICA-FR 1 224588766 224588766 single base substitution T C 3_prime_UTR_variant LICA-FR 1 224588766 224588766 single base substitution T C synonymous_variant G288G 864A>G LICA-FR 1 224588766 224588766 single base substitution T C synonymous_variant G435G 1305A>G LICA-FR 1 224588766 224588766 single base substitution T C synonymous_variant G68G 204A>G LICA-FR 1 224588766 224588766 single base substitution T C upstream_gene_variant LIHC-US 1 224585919 224585919 single base substitution A T 3_prime_UTR_variant LIHC-US 1 224585919 224585919 single base substitution A T exon_variant LIHC-US 1 224585919 224585919 single base substitution A T missense_variant L185I 553T>A LIHC-US 1 224585919 224585919 single base substitution A T missense_variant L405I 1213T>A LIHC-US 1 224585919 224585919 single base substitution A T missense_variant L552I 1654T>A LIHC-US 1 224588723 224588723 single base substitution T C 3_prime_UTR_variant LIHC-US 1 224588723 224588723 single base substitution T C missense_variant T303A 907A>G LIHC-US 1 224588723 224588723 single base substitution T C missense_variant T450A 1348A>G LIHC-US 1 224588723 224588723 single base substitution T C missense_variant T83A 247A>G LIHC-US 1 224588723 224588723 single base substitution T C upstream_gene_variant LIHC-US 1 224588733 224588733 single base substitution T C 3_prime_UTR_variant LIHC-US 1 224588733 224588733 single base substitution T C synonymous_variant E299E 897A>G LIHC-US 1 224588733 224588733 single base substitution T C synonymous_variant E446E 1338A>G LIHC-US 1 224588733 224588733 single base substitution T C synonymous_variant E79E 237A>G LIHC-US 1 224588733 224588733 single base substitution T C upstream_gene_variant LINC-JP 1 224578548 224578548 single base substitution C T intron_variant LINC-JP 1 224600911 224600911 single base substitution C A exon_variant LINC-JP 1 224600911 224600911 single base substitution C A intron_variant LINC-JP 1 224600911 224600911 single base substitution C A upstream_gene_variant LINC-JP 1 224603470 224603470 single base substitution G A downstream_gene_variant LINC-JP 1 224603470 224603470 single base substitution G A intron_variant LINC-JP 1 224603470 224603470 single base substitution G A upstream_gene_variant LINC-JP 1 224605491 224605491 single base substitution T C downstream_gene_variant LINC-JP 1 224605491 224605491 single base substitution T C intron_variant LINC-JP 1 224607362 224607364 deletion of <=200bp TTG - intron_variant LINC-JP 1 224611133 224611133 single base substitution T C intron_variant LINC-JP 1 224612442 224612442 single base substitution C A downstream_gene_variant LINC-JP 1 224612442 224612442 single base substitution C A intron_variant LINC-JP 1 224614100 224614100 single base substitution T C downstream_gene_variant LINC-JP 1 224614100 224614100 single base substitution T C intron_variant LINC-JP 1 224619338 224619338 single base substitution C G intron_variant LIRI-JP 1 224570765 224570765 single base substitution T C downstream_gene_variant LIRI-JP 1 224570818 224570818 single base substitution G A downstream_gene_variant LIRI-JP 1 224572742 224572742 single base substitution A G downstream_gene_variant LIRI-JP 1 224573825 224573845 deletion of <=200bp TTTCAATTAAGTTCACCCTGT - 3_prime_UTR_variant LIRI-JP 1 224573825 224573845 deletion of <=200bp TTTCAATTAAGTTCACCCTGT - downstream_gene_variant LIRI-JP 1 224574147 224574147 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 224574147 224574147 single base substitution T C downstream_gene_variant LIRI-JP 1 224574533 224574533 single base substitution A T 3_prime_UTR_variant LIRI-JP 1 224574533 224574533 single base substitution A T downstream_gene_variant LIRI-JP 1 224574533 224574533 single base substitution A T intron_variant LIRI-JP 1 224574574 224574574 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 224574574 224574574 single base substitution A G downstream_gene_variant LIRI-JP 1 224574574 224574574 single base substitution A G intron_variant LIRI-JP 1 224574907 224574907 single base substitution C G 3_prime_UTR_variant LIRI-JP 1 224574907 224574907 single base substitution C G downstream_gene_variant LIRI-JP 1 224574907 224574907 single base substitution C G intron_variant LIRI-JP 1 224575545 224575545 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 224575545 224575545 single base substitution T C downstream_gene_variant LIRI-JP 1 224575545 224575545 single base substitution T C intron_variant LIRI-JP 1 224576054 224576054 single base substitution C G 3_prime_UTR_variant LIRI-JP 1 224576054 224576054 single base substitution C G downstream_gene_variant LIRI-JP 1 224576054 224576054 single base substitution C G intron_variant LIRI-JP 1 224577780 224577780 single base substitution C A intron_variant LIRI-JP 1 224577918 224577918 single base substitution C T intron_variant LIRI-JP 1 224579305 224579305 single base substitution T C intron_variant LIRI-JP 1 224580662 224580662 single base substitution A C downstream_gene_variant LIRI-JP 1 224580662 224580662 single base substitution A C intron_variant LIRI-JP 1 224580757 224580757 single base substitution T C downstream_gene_variant LIRI-JP 1 224580757 224580757 single base substitution T C intron_variant LIRI-JP 1 224584216 224584216 single base substitution A T downstream_gene_variant LIRI-JP 1 224584216 224584216 single base substitution A T intron_variant LIRI-JP 1 224585344 224585344 deletion of <=200bp G - downstream_gene_variant LIRI-JP 1 224585344 224585344 deletion of <=200bp G - intron_variant LIRI-JP 1 224585849 224585849 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 224585849 224585849 single base substitution T C exon_variant LIRI-JP 1 224585849 224585849 single base substitution T C missense_variant H208R 623A>G LIRI-JP 1 224585849 224585849 single base substitution T C missense_variant H428R 1283A>G LIRI-JP 1 224585849 224585849 single base substitution T C missense_variant H575R 1724A>G LIRI-JP 1 224587212 224587212 single base substitution G A intron_variant LIRI-JP 1 224587708 224587708 single base substitution T C intron_variant LIRI-JP 1 224589582 224589582 single base substitution C A intron_variant LIRI-JP 1 224589582 224589582 single base substitution C A upstream_gene_variant LIRI-JP 1 224591902 224591902 single base substitution A C intron_variant LIRI-JP 1 224591902 224591902 single base substitution A C upstream_gene_variant LIRI-JP 1 224592170 224592170 single base substitution G A 3_prime_UTR_variant LIRI-JP 1 224592170 224592170 single base substitution G A missense_variant P274S 820C>T LIRI-JP 1 224592170 224592170 single base substitution G A missense_variant P421S 1261C>T LIRI-JP 1 224592170 224592170 single base substitution G A missense_variant P54S 160C>T LIRI-JP 1 224592170 224592170 single base substitution G A upstream_gene_variant LIRI-JP 1 224592206 224592206 insertion of <=200bp - A 3_prime_UTR_variant LIRI-JP 1 224592206 224592206 insertion of <=200bp - A frameshift_variant W262L? LIRI-JP 1 224592206 224592206 insertion of <=200bp - A frameshift_variant W409L? LIRI-JP 1 224592206 224592206 insertion of <=200bp - A frameshift_variant W42L? LIRI-JP 1 224592206 224592206 insertion of <=200bp - A upstream_gene_variant LIRI-JP 1 224595788 224595788 single base substitution G A downstream_gene_variant LIRI-JP 1 224595788 224595788 single base substitution G A intron_variant LIRI-JP 1 224596865 224596865 single base substitution T C downstream_gene_variant LIRI-JP 1 224596865 224596865 single base substitution T C intron_variant LIRI-JP 1 224597645 224597645 single base substitution A C downstream_gene_variant LIRI-JP 1 224597645 224597645 single base substitution A C intron_variant LIRI-JP 1 224601755 224601755 single base substitution C A intron_variant LIRI-JP 1 224601755 224601755 single base substitution C A upstream_gene_variant LIRI-JP 1 224601756 224601756 single base substitution C A intron_variant LIRI-JP 1 224601756 224601756 single base substitution C A upstream_gene_variant LIRI-JP 1 224603057 224603057 single base substitution T G downstream_gene_variant LIRI-JP 1 224603057 224603057 single base substitution T G intron_variant LIRI-JP 1 224603057 224603057 single base substitution T G upstream_gene_variant LIRI-JP 1 224606311 224606311 single base substitution A G downstream_gene_variant LIRI-JP 1 224606311 224606311 single base substitution A G intron_variant LIRI-JP 1 224606439 224606439 single base substitution T C downstream_gene_variant LIRI-JP 1 224606439 224606439 single base substitution T C intron_variant LIRI-JP 1 224607002 224607002 single base substitution A G downstream_gene_variant LIRI-JP 1 224607002 224607002 single base substitution A G intron_variant LIRI-JP 1 224607167 224607167 single base substitution T C downstream_gene_variant LIRI-JP 1 224607167 224607167 single base substitution T C exon_variant LIRI-JP 1 224607167 224607167 single base substitution T C intron_variant LIRI-JP 1 224608331 224608331 single base substitution T C intron_variant LIRI-JP 1 224609836 224609836 single base substitution A C intron_variant LIRI-JP 1 224610574 224610574 single base substitution T C intron_variant LIRI-JP 1 224611621 224611621 single base substitution T C intron_variant LIRI-JP 1 224613999 224613999 single base substitution T C downstream_gene_variant LIRI-JP 1 224613999 224613999 single base substitution T C intron_variant LIRI-JP 1 224615277 224615277 single base substitution T C downstream_gene_variant LIRI-JP 1 224615277 224615277 single base substitution T C intron_variant LIRI-JP 1 224618398 224618398 single base substitution G A exon_variant LIRI-JP 1 224618398 224618398 single base substitution G A intron_variant LIRI-JP 1 224618780 224618780 single base substitution A G exon_variant LIRI-JP 1 224618780 224618780 single base substitution A G intron_variant LIRI-JP 1 224619901 224619901 single base substitution C A intron_variant LIRI-JP 1 224620091 224620091 single base substitution T C intron_variant LIRI-JP 1 224620449 224620449 single base substitution T C intron_variant LIRI-JP 1 224620960 224620960 single base substitution A T intron_variant LIRI-JP 1 224623169 224623169 single base substitution A C intron_variant LIRI-JP 1 224623169 224623169 single base substitution A C upstream_gene_variant LIRI-JP 1 224623926 224623926 single base substitution G C intron_variant LIRI-JP 1 224623926 224623926 single base substitution G C upstream_gene_variant LIRI-JP 1 224624319 224624319 single base substitution A T intron_variant LIRI-JP 1 224624319 224624319 single base substitution A T upstream_gene_variant LIRI-JP 1 224624936 224624936 single base substitution T C upstream_gene_variant LIRI-JP 1 224626469 224626469 single base substitution T G upstream_gene_variant LIRI-JP 1 224627966 224627966 single base substitution C T upstream_gene_variant LUSC-CN 1 224581511 224581511 single base substitution C G downstream_gene_variant LUSC-CN 1 224581511 224581511 single base substitution C G intron_variant LUSC-KR 1 224568145 224568145 single base substitution C G downstream_gene_variant LUSC-KR 1 224588005 224588005 single base substitution G T intron_variant LUSC-KR 1 224591031 224591031 single base substitution C A intron_variant LUSC-KR 1 224591031 224591031 single base substitution C A upstream_gene_variant LUSC-KR 1 224591986 224591986 single base substitution C A intron_variant LUSC-KR 1 224591986 224591986 single base substitution C A upstream_gene_variant LUSC-KR 1 224593410 224593410 single base substitution G C intron_variant LUSC-KR 1 224593410 224593410 single base substitution G C upstream_gene_variant LUSC-KR 1 224596695 224596695 single base substitution C T downstream_gene_variant LUSC-KR 1 224596695 224596695 single base substitution C T intron_variant LUSC-KR 1 224601426 224601426 single base substitution C T intron_variant LUSC-KR 1 224601426 224601426 single base substitution C T upstream_gene_variant LUSC-KR 1 224605206 224605206 single base substitution T C downstream_gene_variant LUSC-KR 1 224605206 224605206 single base substitution T C intron_variant LUSC-KR 1 224606313 224606313 single base substitution T A downstream_gene_variant LUSC-KR 1 224606313 224606313 single base substitution T A intron_variant LUSC-KR 1 224607260 224607260 single base substitution T A 3_prime_UTR_variant LUSC-KR 1 224607260 224607260 single base substitution T A downstream_gene_variant LUSC-KR 1 224607260 224607260 single base substitution T A exon_variant LUSC-KR 1 224607260 224607260 single base substitution T A missense_variant K127N 381A>T LUSC-KR 1 224607260 224607260 single base substitution T A missense_variant K274N 822A>T LUSC-KR 1 224609651 224609651 single base substitution C A intron_variant LUSC-KR 1 224611721 224611721 single base substitution T A intron_variant LUSC-KR 1 224617031 224617031 single base substitution T C exon_variant LUSC-KR 1 224617031 224617031 single base substitution T C intron_variant LUSC-KR 1 224619263 224619263 single base substitution T C exon_variant LUSC-KR 1 224619263 224619263 single base substitution T C synonymous_variant E181E 543A>G LUSC-KR 1 224619263 224619263 single base substitution T C synonymous_variant E34E 102A>G LUSC-KR 1 224621376 224621376 single base substitution G A intron_variant LUSC-KR 1 224623935 224623935 single base substitution T C intron_variant LUSC-KR 1 224623935 224623935 single base substitution T C upstream_gene_variant LUSC-KR 1 224626861 224626861 single base substitution T C upstream_gene_variant LUSC-US 1 224577560 224577560 single base substitution C A splice_region_variant LUSC-US 1 224577560 224577560 single base substitution C A stop_gained E288* 862G>T LUSC-US 1 224577560 224577560 single base substitution C A stop_gained E508* 1522G>T LUSC-US 1 224577560 224577560 single base substitution C A stop_gained E655* 1963G>T LUSC-US 1 224599262 224599262 single base substitution T A 3_prime_UTR_variant LUSC-US 1 224599262 224599262 single base substitution T A downstream_gene_variant LUSC-US 1 224599262 224599262 single base substitution T A missense_variant Q195L 584A>T LUSC-US 1 224599262 224599262 single base substitution T A missense_variant Q342L 1025A>T LUSC-US 1 224599262 224599262 single base substitution T A upstream_gene_variant MALY-DE 1 224573097 224573097 single base substitution G A 3_prime_UTR_variant MALY-DE 1 224573097 224573097 single base substitution G A downstream_gene_variant MALY-DE 1 224582867 224582867 single base substitution C A downstream_gene_variant MALY-DE 1 224582867 224582867 single base substitution C A intron_variant MALY-DE 1 224587379 224587379 single base substitution G C intron_variant MALY-DE 1 224594994 224595008 deletion of <=200bp TGGAAATAACATGTT - intron_variant MALY-DE 1 224613676 224613676 single base substitution C T downstream_gene_variant MALY-DE 1 224613676 224613676 single base substitution C T intron_variant MELA-AU 1 224568405 224568405 single base substitution C T downstream_gene_variant MELA-AU 1 224568872 224568872 single base substitution G A downstream_gene_variant MELA-AU 1 224569335 224569335 single base substitution C T downstream_gene_variant MELA-AU 1 224569817 224569817 single base substitution C A downstream_gene_variant MELA-AU 1 224572505 224572505 single base substitution G A downstream_gene_variant MELA-AU 1 224573675 224573675 single base substitution A G 3_prime_UTR_variant MELA-AU 1 224573675 224573675 single base substitution A G downstream_gene_variant MELA-AU 1 224574146 224574146 single base substitution A G 3_prime_UTR_variant MELA-AU 1 224574146 224574146 single base substitution A G downstream_gene_variant MELA-AU 1 224574459 224574459 single base substitution G A 3_prime_UTR_variant MELA-AU 1 224574459 224574459 single base substitution G A downstream_gene_variant MELA-AU 1 224574459 224574459 single base substitution G A intron_variant MELA-AU 1 224575635 224575635 single base substitution A G 3_prime_UTR_variant MELA-AU 1 224575635 224575635 single base substitution A G downstream_gene_variant MELA-AU 1 224575635 224575635 single base substitution A G intron_variant MELA-AU 1 224576004 224576004 insertion of <=200bp - AGAA 3_prime_UTR_variant MELA-AU 1 224576004 224576004 insertion of <=200bp - AGAA downstream_gene_variant MELA-AU 1 224576004 224576004 insertion of <=200bp - AGAA intron_variant MELA-AU 1 224576100 224576100 single base substitution T C 3_prime_UTR_variant MELA-AU 1 224576100 224576100 single base substitution T C downstream_gene_variant MELA-AU 1 224576100 224576100 single base substitution T C intron_variant MELA-AU 1 224576658 224576658 single base substitution G A 3_prime_UTR_variant MELA-AU 1 224576658 224576658 single base substitution G A downstream_gene_variant MELA-AU 1 224576658 224576658 single base substitution G A intron_variant MELA-AU 1 224576882 224576882 single base substitution A G 3_prime_UTR_variant MELA-AU 1 224576882 224576882 single base substitution A G intron_variant MELA-AU 1 224577909 224577909 single base substitution C T intron_variant MELA-AU 1 224578784 224578785 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 224579223 224579223 single base substitution A C intron_variant MELA-AU 1 224579230 224579230 single base substitution C T intron_variant MELA-AU 1 224579330 224579330 single base substitution G A intron_variant MELA-AU 1 224579496 224579496 single base substitution G A intron_variant MELA-AU 1 224580127 224580127 single base substitution C T intron_variant MELA-AU 1 224580285 224580285 single base substitution G A intron_variant MELA-AU 1 224580565 224580565 single base substitution G A downstream_gene_variant MELA-AU 1 224580565 224580565 single base substitution G A intron_variant MELA-AU 1 224581399 224581399 single base substitution G A downstream_gene_variant MELA-AU 1 224581399 224581399 single base substitution G A intron_variant MELA-AU 1 224581475 224581475 single base substitution A G downstream_gene_variant MELA-AU 1 224581475 224581475 single base substitution A G intron_variant MELA-AU 1 224582230 224582230 single base substitution G A downstream_gene_variant MELA-AU 1 224582230 224582230 single base substitution G A intron_variant MELA-AU 1 224582341 224582341 single base substitution G A downstream_gene_variant MELA-AU 1 224582341 224582341 single base substitution G A intron_variant MELA-AU 1 224582638 224582638 single base substitution C T downstream_gene_variant MELA-AU 1 224582638 224582638 single base substitution C T intron_variant MELA-AU 1 224584305 224584305 single base substitution A G downstream_gene_variant MELA-AU 1 224584305 224584305 single base substitution A G intron_variant MELA-AU 1 224586836 224586836 single base substitution G T intron_variant MELA-AU 1 224587489 224587489 single base substitution G A intron_variant MELA-AU 1 224587580 224587580 single base substitution G A intron_variant MELA-AU 1 224588037 224588037 single base substitution T C intron_variant MELA-AU 1 224588348 224588348 single base substitution A G intron_variant MELA-AU 1 224588581 224588581 single base substitution G A intron_variant MELA-AU 1 224588797 224588797 single base substitution A G intron_variant MELA-AU 1 224588797 224588797 single base substitution A G upstream_gene_variant MELA-AU 1 224588997 224588997 single base substitution G A intron_variant MELA-AU 1 224588997 224588997 single base substitution G A upstream_gene_variant MELA-AU 1 224589561 224589561 single base substitution G A intron_variant MELA-AU 1 224589561 224589561 single base substitution G A upstream_gene_variant MELA-AU 1 224589806 224589806 single base substitution G A 3_prime_UTR_variant MELA-AU 1 224589806 224589806 single base substitution G A intron_variant MELA-AU 1 224589806 224589806 single base substitution G A upstream_gene_variant MELA-AU 1 224590199 224590199 single base substitution G A intron_variant MELA-AU 1 224590199 224590199 single base substitution G A upstream_gene_variant MELA-AU 1 224591174 224591174 single base substitution G A intron_variant MELA-AU 1 224591174 224591174 single base substitution G A upstream_gene_variant MELA-AU 1 224591622 224591622 single base substitution G A intron_variant MELA-AU 1 224591622 224591622 single base substitution G A upstream_gene_variant MELA-AU 1 224591774 224591774 single base substitution G A intron_variant MELA-AU 1 224591774 224591774 single base substitution G A upstream_gene_variant MELA-AU 1 224593352 224593352 single base substitution G A intron_variant MELA-AU 1 224593352 224593352 single base substitution G A upstream_gene_variant MELA-AU 1 224594245 224594245 single base substitution A G intron_variant MELA-AU 1 224594278 224594278 single base substitution C T intron_variant MELA-AU 1 224594707 224594707 single base substitution C A intron_variant MELA-AU 1 224595398 224595398 single base substitution G A intron_variant MELA-AU 1 224596375 224596375 single base substitution G A downstream_gene_variant MELA-AU 1 224596375 224596375 single base substitution G A intron_variant MELA-AU 1 224597076 224597076 single base substitution G A downstream_gene_variant MELA-AU 1 224597076 224597076 single base substitution G A intron_variant MELA-AU 1 224597259 224597259 single base substitution T G downstream_gene_variant MELA-AU 1 224597259 224597259 single base substitution T G intron_variant MELA-AU 1 224597409 224597409 single base substitution G A downstream_gene_variant MELA-AU 1 224597409 224597409 single base substitution G A intron_variant MELA-AU 1 224600441 224600441 single base substitution G A downstream_gene_variant MELA-AU 1 224600441 224600441 single base substitution G A intron_variant MELA-AU 1 224600441 224600441 single base substitution G A upstream_gene_variant MELA-AU 1 224600824 224600824 single base substitution G A exon_variant MELA-AU 1 224600824 224600824 single base substitution G A intron_variant MELA-AU 1 224600824 224600824 single base substitution G A upstream_gene_variant MELA-AU 1 224601484 224601484 single base substitution G A intron_variant MELA-AU 1 224601484 224601484 single base substitution G A upstream_gene_variant MELA-AU 1 224601871 224601871 single base substitution G A intron_variant MELA-AU 1 224601871 224601871 single base substitution G A upstream_gene_variant MELA-AU 1 224602152 224602152 single base substitution G A downstream_gene_variant MELA-AU 1 224602152 224602152 single base substitution G A intron_variant MELA-AU 1 224602152 224602152 single base substitution G A upstream_gene_variant MELA-AU 1 224602161 224602161 single base substitution T A downstream_gene_variant MELA-AU 1 224602161 224602161 single base substitution T A intron_variant MELA-AU 1 224602161 224602161 single base substitution T A upstream_gene_variant MELA-AU 1 224602213 224602213 single base substitution T A downstream_gene_variant MELA-AU 1 224602213 224602213 single base substitution T A intron_variant MELA-AU 1 224602213 224602213 single base substitution T A upstream_gene_variant MELA-AU 1 224602634 224602635 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 224602634 224602635 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 224602634 224602635 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 224602895 224602895 single base substitution G A downstream_gene_variant MELA-AU 1 224602895 224602895 single base substitution G A intron_variant MELA-AU 1 224602895 224602895 single base substitution G A upstream_gene_variant MELA-AU 1 224602974 224602974 single base substitution G T downstream_gene_variant MELA-AU 1 224602974 224602974 single base substitution G T intron_variant MELA-AU 1 224602974 224602974 single base substitution G T upstream_gene_variant MELA-AU 1 224603436 224603436 single base substitution A G downstream_gene_variant MELA-AU 1 224603436 224603436 single base substitution A G intron_variant MELA-AU 1 224603436 224603436 single base substitution A G upstream_gene_variant MELA-AU 1 224603464 224603464 single base substitution G A downstream_gene_variant MELA-AU 1 224603464 224603464 single base substitution G A intron_variant MELA-AU 1 224603464 224603464 single base substitution G A upstream_gene_variant MELA-AU 1 224603484 224603484 single base substitution G A downstream_gene_variant MELA-AU 1 224603484 224603484 single base substitution G A intron_variant MELA-AU 1 224603484 224603484 single base substitution G A upstream_gene_variant MELA-AU 1 224603624 224603624 single base substitution C T downstream_gene_variant MELA-AU 1 224603624 224603624 single base substitution C T intron_variant MELA-AU 1 224603624 224603624 single base substitution C T upstream_gene_variant MELA-AU 1 224604023 224604024 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 224604023 224604024 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 224604023 224604024 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 224604437 224604438 multiple base substitution (>=2bp and <=200bp) AA TC downstream_gene_variant MELA-AU 1 224604437 224604438 multiple base substitution (>=2bp and <=200bp) AA TC intron_variant MELA-AU 1 224604988 224604988 single base substitution G A downstream_gene_variant MELA-AU 1 224604988 224604988 single base substitution G A intron_variant MELA-AU 1 224605845 224605845 single base substitution A C downstream_gene_variant MELA-AU 1 224605845 224605845 single base substitution A C intron_variant MELA-AU 1 224606678 224606678 single base substitution C T downstream_gene_variant MELA-AU 1 224606678 224606678 single base substitution C T intron_variant MELA-AU 1 224606694 224606694 single base substitution G A downstream_gene_variant MELA-AU 1 224606694 224606694 single base substitution G A intron_variant MELA-AU 1 224606709 224606709 single base substitution G A downstream_gene_variant MELA-AU 1 224606709 224606709 single base substitution G A intron_variant MELA-AU 1 224606758 224606758 single base substitution C T downstream_gene_variant MELA-AU 1 224606758 224606758 single base substitution C T intron_variant MELA-AU 1 224606832 224606832 single base substitution G A downstream_gene_variant MELA-AU 1 224606832 224606832 single base substitution G A intron_variant MELA-AU 1 224607157 224607157 single base substitution G A downstream_gene_variant MELA-AU 1 224607157 224607157 single base substitution G A exon_variant MELA-AU 1 224607157 224607157 single base substitution G A intron_variant MELA-AU 1 224607247 224607247 single base substitution G A 3_prime_UTR_variant MELA-AU 1 224607247 224607247 single base substitution G A downstream_gene_variant MELA-AU 1 224607247 224607247 single base substitution G A exon_variant MELA-AU 1 224607247 224607247 single base substitution G A stop_gained R132* 394C>T MELA-AU 1 224607247 224607247 single base substitution G A stop_gained R279* 835C>T MELA-AU 1 224607257 224607257 single base substitution C T 3_prime_UTR_variant MELA-AU 1 224607257 224607257 single base substitution C T downstream_gene_variant MELA-AU 1 224607257 224607257 single base substitution C T exon_variant MELA-AU 1 224607257 224607257 single base substitution C T synonymous_variant G128G 384G>A MELA-AU 1 224607257 224607257 single base substitution C T synonymous_variant G275G 825G>A MELA-AU 1 224607442 224607442 single base substitution G A intron_variant MELA-AU 1 224607933 224607933 single base substitution A T intron_variant MELA-AU 1 224608095 224608095 single base substitution G A intron_variant MELA-AU 1 224608097 224608097 single base substitution A T intron_variant MELA-AU 1 224608211 224608211 single base substitution T C intron_variant MELA-AU 1 224608825 224608825 single base substitution A T intron_variant MELA-AU 1 224609808 224609808 single base substitution G A intron_variant MELA-AU 1 224609995 224609995 single base substitution G A intron_variant MELA-AU 1 224611033 224611033 single base substitution G A intron_variant MELA-AU 1 224611274 224611293 deletion of <=200bp GACCTGTCTCTACAAAAAAT - intron_variant MELA-AU 1 224611657 224611657 single base substitution G A intron_variant MELA-AU 1 224611762 224611762 single base substitution A C intron_variant MELA-AU 1 224612399 224612399 single base substitution G A downstream_gene_variant MELA-AU 1 224612399 224612399 single base substitution G A exon_variant MELA-AU 1 224612399 224612399 single base substitution G A intron_variant MELA-AU 1 224612399 224612399 single base substitution G A missense_variant S201F 602C>T MELA-AU 1 224612899 224612899 single base substitution A G downstream_gene_variant MELA-AU 1 224612899 224612899 single base substitution A G intron_variant MELA-AU 1 224613315 224613315 single base substitution G A downstream_gene_variant MELA-AU 1 224613315 224613315 single base substitution G A intron_variant MELA-AU 1 224613384 224613384 single base substitution G A downstream_gene_variant MELA-AU 1 224613384 224613384 single base substitution G A intron_variant MELA-AU 1 224614522 224614522 single base substitution G A downstream_gene_variant MELA-AU 1 224614522 224614522 single base substitution G A intron_variant MELA-AU 1 224614969 224614969 single base substitution G A downstream_gene_variant MELA-AU 1 224614969 224614969 single base substitution G A intron_variant MELA-AU 1 224615776 224615776 single base substitution G A downstream_gene_variant MELA-AU 1 224615776 224615776 single base substitution G A intron_variant MELA-AU 1 224615949 224615949 single base substitution G A downstream_gene_variant MELA-AU 1 224615949 224615949 single base substitution G A intron_variant MELA-AU 1 224616128 224616128 single base substitution C T downstream_gene_variant MELA-AU 1 224616128 224616128 single base substitution C T intron_variant MELA-AU 1 224616738 224616738 single base substitution G A downstream_gene_variant MELA-AU 1 224616738 224616738 single base substitution G A intron_variant MELA-AU 1 224617335 224617335 single base substitution T G exon_variant MELA-AU 1 224617335 224617335 single base substitution T G intron_variant MELA-AU 1 224617374 224617374 single base substitution G A exon_variant MELA-AU 1 224617374 224617374 single base substitution G A intron_variant MELA-AU 1 224617893 224617893 single base substitution G A exon_variant MELA-AU 1 224617893 224617893 single base substitution G A intron_variant MELA-AU 1 224618295 224618295 single base substitution T C exon_variant MELA-AU 1 224618295 224618295 single base substitution T C intron_variant MELA-AU 1 224618593 224618594 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 1 224618593 224618594 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 224618672 224618692 deletion of <=200bp ACTTTGACACTGTCAATTCAC - exon_variant MELA-AU 1 224618672 224618692 deletion of <=200bp ACTTTGACACTGTCAATTCAC - intron_variant MELA-AU 1 224621849 224621849 single base substitution G A 5_prime_UTR_variant MELA-AU 1 224621849 224621849 single base substitution G A intron_variant MELA-AU 1 224621849 224621849 single base substitution G A upstream_gene_variant MELA-AU 1 224622555 224622555 single base substitution C T intron_variant MELA-AU 1 224622555 224622555 single base substitution C T upstream_gene_variant MELA-AU 1 224623465 224623465 single base substitution C T 5_prime_UTR_variant MELA-AU 1 224623465 224623465 single base substitution C T upstream_gene_variant MELA-AU 1 224623769 224623769 single base substitution T G intron_variant MELA-AU 1 224623769 224623769 single base substitution T G upstream_gene_variant MELA-AU 1 224625127 224625127 single base substitution G C upstream_gene_variant MELA-AU 1 224625924 224625924 single base substitution C T upstream_gene_variant MELA-AU 1 224627056 224627056 single base substitution A G upstream_gene_variant MELA-AU 1 224627168 224627168 single base substitution C T upstream_gene_variant MELA-AU 1 224627172 224627172 single base substitution C A upstream_gene_variant MELA-AU 1 224627265 224627265 single base substitution A C upstream_gene_variant MELA-AU 1 224627642 224627642 single base substitution C T upstream_gene_variant MELA-AU 1 224627758 224627758 single base substitution G T upstream_gene_variant MELA-AU 1 224627824 224627824 single base substitution C T upstream_gene_variant MELA-AU 1 224628886 224628886 single base substitution C T upstream_gene_variant ORCA-IN 1 224615430 224615430 single base substitution G A downstream_gene_variant ORCA-IN 1 224615430 224615430 single base substitution G A intron_variant ORCA-IN 1 224624699 224624699 single base substitution C G 5_prime_UTR_variant ORCA-IN 1 224624699 224624699 single base substitution C G upstream_gene_variant OV-AU 1 224571280 224571280 single base substitution T C downstream_gene_variant OV-AU 1 224595453 224595453 single base substitution C A intron_variant OV-AU 1 224599096 224599096 single base substitution T C downstream_gene_variant OV-AU 1 224599096 224599096 single base substitution T C intron_variant OV-AU 1 224603272 224603272 single base substitution C G downstream_gene_variant OV-AU 1 224603272 224603272 single base substitution C G intron_variant OV-AU 1 224603272 224603272 single base substitution C G upstream_gene_variant OV-AU 1 224608043 224608043 single base substitution C T intron_variant OV-AU 1 224615276 224615276 single base substitution A G downstream_gene_variant OV-AU 1 224615276 224615276 single base substitution A G intron_variant OV-AU 1 224625459 224625459 single base substitution C G upstream_gene_variant OV-AU 1 224627751 224627751 single base substitution A G upstream_gene_variant PACA-AU 1 224570684 224570684 single base substitution C T downstream_gene_variant PACA-AU 1 224575443 224575443 single base substitution G A 3_prime_UTR_variant PACA-AU 1 224575443 224575443 single base substitution G A downstream_gene_variant PACA-AU 1 224575443 224575443 single base substitution G A intron_variant PACA-AU 1 224579656 224579656 single base substitution C T intron_variant PACA-AU 1 224584276 224584276 single base substitution G A downstream_gene_variant PACA-AU 1 224584276 224584276 single base substitution G A intron_variant PACA-AU 1 224586323 224586323 single base substitution A C intron_variant PACA-AU 1 224586333 224586333 single base substitution A G intron_variant PACA-AU 1 224601350 224601350 single base substitution G A intron_variant PACA-AU 1 224601350 224601350 single base substitution G A upstream_gene_variant PACA-AU 1 224603640 224603640 single base substitution T G downstream_gene_variant PACA-AU 1 224603640 224603640 single base substitution T G intron_variant PACA-AU 1 224603640 224603640 single base substitution T G upstream_gene_variant PACA-AU 1 224605266 224605266 single base substitution C T downstream_gene_variant PACA-AU 1 224605266 224605266 single base substitution C T intron_variant PACA-AU 1 224607506 224607507 deletion of <=200bp TA - intron_variant PACA-AU 1 224611271 224611271 single base substitution C T intron_variant PACA-AU 1 224623017 224623017 insertion of <=200bp - A intron_variant PACA-AU 1 224623017 224623017 insertion of <=200bp - A upstream_gene_variant PACA-AU 1 224625275 224625275 single base substitution A C upstream_gene_variant PACA-CA 1 224569051 224569051 single base substitution G A downstream_gene_variant PACA-CA 1 224572053 224572053 single base substitution G A downstream_gene_variant PACA-CA 1 224573702 224573704 deletion of <=200bp ATA - 3_prime_UTR_variant PACA-CA 1 224573702 224573704 deletion of <=200bp ATA - downstream_gene_variant PACA-CA 1 224576909 224576909 single base substitution T C 3_prime_UTR_variant PACA-CA 1 224576909 224576909 single base substitution T C intron_variant PACA-CA 1 224578862 224578862 single base substitution A T intron_variant PACA-CA 1 224584993 224584993 deletion of <=200bp A - downstream_gene_variant PACA-CA 1 224584993 224584993 deletion of <=200bp A - intron_variant PACA-CA 1 224585099 224585099 single base substitution A C downstream_gene_variant PACA-CA 1 224585099 224585099 single base substitution A C intron_variant PACA-CA 1 224590516 224590516 single base substitution T A intron_variant PACA-CA 1 224590516 224590516 single base substitution T A upstream_gene_variant PACA-CA 1 224591345 224591345 single base substitution T A intron_variant PACA-CA 1 224591345 224591345 single base substitution T A upstream_gene_variant PACA-CA 1 224591413 224591413 single base substitution C T intron_variant PACA-CA 1 224591413 224591413 single base substitution C T upstream_gene_variant PACA-CA 1 224594193 224594193 single base substitution A G intron_variant PACA-CA 1 224595337 224595339 deletion of <=200bp AGT - intron_variant PACA-CA 1 224595906 224595906 single base substitution C T downstream_gene_variant PACA-CA 1 224595906 224595906 single base substitution C T intron_variant PACA-CA 1 224600919 224600919 single base substitution C A exon_variant PACA-CA 1 224600919 224600919 single base substitution C A intron_variant PACA-CA 1 224600919 224600919 single base substitution C A upstream_gene_variant PACA-CA 1 224601435 224601435 single base substitution C G intron_variant PACA-CA 1 224601435 224601435 single base substitution C G upstream_gene_variant PACA-CA 1 224602519 224602519 deletion of <=200bp A - downstream_gene_variant PACA-CA 1 224602519 224602519 deletion of <=200bp A - intron_variant PACA-CA 1 224602519 224602519 deletion of <=200bp A - upstream_gene_variant PACA-CA 1 224603329 224603329 deletion of <=200bp T - downstream_gene_variant PACA-CA 1 224603329 224603329 deletion of <=200bp T - intron_variant PACA-CA 1 224603329 224603329 deletion of <=200bp T - upstream_gene_variant PACA-CA 1 224620106 224620106 single base substitution C G intron_variant PACA-CA 1 224620168 224620168 single base substitution C G intron_variant PACA-CA 1 224623607 224623607 deletion of <=200bp A - intron_variant PACA-CA 1 224623607 224623607 deletion of <=200bp A - upstream_gene_variant PACA-CA 1 224626825 224626825 single base substitution A G upstream_gene_variant PAEN-AU 1 224589405 224589405 insertion of <=200bp - AAAAAAGAAAA intron_variant PAEN-AU 1 224589405 224589405 insertion of <=200bp - AAAAAAGAAAA upstream_gene_variant PAEN-AU 1 224589784 224589784 single base substitution T C 3_prime_UTR_variant PAEN-AU 1 224589784 224589784 single base substitution T C intron_variant PAEN-AU 1 224589784 224589784 single base substitution T C upstream_gene_variant PAEN-AU 1 224607403 224607403 single base substitution C T intron_variant PAEN-IT 1 224576666 224576666 single base substitution C A 3_prime_UTR_variant PAEN-IT 1 224576666 224576666 single base substitution C A downstream_gene_variant PAEN-IT 1 224576666 224576666 single base substitution C A intron_variant PBCA-DE 1 224572521 224572530 deletion of <=200bp AAAAAAAAAA - downstream_gene_variant PBCA-DE 1 224578915 224578915 insertion of <=200bp - AA intron_variant PBCA-DE 1 224593352 224593352 single base substitution G A intron_variant PBCA-DE 1 224593352 224593352 single base substitution G A upstream_gene_variant PBCA-DE 1 224601194 224601194 single base substitution T A intron_variant PBCA-DE 1 224601194 224601194 single base substitution T A upstream_gene_variant PBCA-DE 1 224615495 224615495 single base substitution C T downstream_gene_variant PBCA-DE 1 224615495 224615495 single base substitution C T intron_variant PBCA-DE 1 224618660 224618660 single base substitution G A exon_variant PBCA-DE 1 224618660 224618660 single base substitution G A intron_variant PBCA-DE 1 224626104 224626104 single base substitution T A upstream_gene_variant PBCA-DE 1 224628837 224628837 single base substitution A T upstream_gene_variant PRAD-CA 1 224601332 224601332 single base substitution A C intron_variant PRAD-CA 1 224601332 224601332 single base substitution A C upstream_gene_variant PRAD-CA 1 224603945 224603945 single base substitution T C downstream_gene_variant PRAD-CA 1 224603945 224603945 single base substitution T C intron_variant PRAD-CA 1 224603945 224603945 single base substitution T C upstream_gene_variant PRAD-CA 1 224621282 224621282 single base substitution C A intron_variant PRAD-UK 1 224586574 224586574 single base substitution A C intron_variant PRAD-UK 1 224587657 224587657 single base substitution G C intron_variant PRAD-UK 1 224598919 224598919 single base substitution A C downstream_gene_variant PRAD-UK 1 224598919 224598919 single base substitution A C intron_variant PRAD-UK 1 224618603 224618603 single base substitution C A exon_variant PRAD-UK 1 224618603 224618603 single base substitution C A intron_variant PRAD-UK 1 224619913 224619913 single base substitution T G intron_variant PRAD-UK 1 224620925 224620925 single base substitution T C intron_variant PRAD-UK 1 224629470 224629470 single base substitution C T upstream_gene_variant PRAD-US 1 224621758 224621760 deletion of <=200bp CCG - 5_prime_UTR_variant PRAD-US 1 224621758 224621760 deletion of <=200bp CCG - disruptive_inframe_deletion GG16G PRAD-US 1 224621758 224621760 deletion of <=200bp CCG - exon_variant PRAD-US 1 224621758 224621760 deletion of <=200bp CCG - intron_variant PRAD-US 1 224621758 224621760 deletion of <=200bp CCG - upstream_gene_variant PRAD-US 1 224621773 224621775 deletion of <=200bp CCT - 5_prime_UTR_variant PRAD-US 1 224621773 224621775 deletion of <=200bp CCT - disruptive_inframe_deletion GG11G PRAD-US 1 224621773 224621775 deletion of <=200bp CCT - exon_variant PRAD-US 1 224621773 224621775 deletion of <=200bp CCT - intron_variant PRAD-US 1 224621773 224621775 deletion of <=200bp CCT - upstream_gene_variant READ-US 1 224585850 224585850 single base substitution G T 3_prime_UTR_variant READ-US 1 224585850 224585850 single base substitution G T exon_variant READ-US 1 224585850 224585850 single base substitution G T missense_variant H208N 622C>A READ-US 1 224585850 224585850 single base substitution G T missense_variant H428N 1282C>A READ-US 1 224585850 224585850 single base substitution G T missense_variant H575N 1723C>A READ-US 1 224612245 224612245 single base substitution T C 3_prime_UTR_variant READ-US 1 224612245 224612245 single base substitution T C downstream_gene_variant READ-US 1 224612245 224612245 single base substitution T C exon_variant READ-US 1 224612245 224612245 single base substitution T C missense_variant T100A 298A>G READ-US 1 224612245 224612245 single base substitution T C missense_variant T247A 739A>G RECA-EU 1 224567969 224567969 single base substitution T A downstream_gene_variant RECA-EU 1 224574379 224574379 single base substitution C T 3_prime_UTR_variant RECA-EU 1 224574379 224574379 single base substitution C T downstream_gene_variant RECA-EU 1 224574379 224574379 single base substitution C T intron_variant RECA-EU 1 224579412 224579412 single base substitution A T intron_variant RECA-EU 1 224586743 224586743 single base substitution A C splice_region_variant RECA-EU 1 224593031 224593031 single base substitution G A intron_variant RECA-EU 1 224593031 224593031 single base substitution G A upstream_gene_variant RECA-EU 1 224593741 224593741 single base substitution G A intron_variant RECA-EU 1 224594307 224594307 single base substitution A T intron_variant RECA-EU 1 224598400 224598400 single base substitution T C downstream_gene_variant RECA-EU 1 224598400 224598400 single base substitution T C intron_variant RECA-EU 1 224600629 224600629 single base substitution A G exon_variant RECA-EU 1 224600629 224600629 single base substitution A G intron_variant RECA-EU 1 224600629 224600629 single base substitution A G upstream_gene_variant RECA-EU 1 224604241 224604241 single base substitution T C downstream_gene_variant RECA-EU 1 224604241 224604241 single base substitution T C intron_variant RECA-EU 1 224604492 224604492 single base substitution T A downstream_gene_variant RECA-EU 1 224604492 224604492 single base substitution T A intron_variant RECA-EU 1 224613636 224613636 single base substitution T C downstream_gene_variant RECA-EU 1 224613636 224613636 single base substitution T C intron_variant RECA-EU 1 224616859 224616859 single base substitution G A downstream_gene_variant RECA-EU 1 224616859 224616859 single base substitution G A intron_variant RECA-EU 1 224616911 224616911 single base substitution C G downstream_gene_variant RECA-EU 1 224616911 224616911 single base substitution C G intron_variant RECA-EU 1 224624934 224624934 single base substitution T A upstream_gene_variant RECA-EU 1 224629603 224629603 single base substitution C A upstream_gene_variant SKCA-BR 1 224577837 224577837 single base substitution T C intron_variant SKCA-BR 1 224578478 224578478 single base substitution G A intron_variant SKCA-BR 1 224579084 224579086 deletion of <=200bp AAC - intron_variant SKCA-BR 1 224585958 224585958 single base substitution A C intron_variant SKCA-BR 1 224589399 224589399 single base substitution A G intron_variant SKCA-BR 1 224589399 224589399 single base substitution A G upstream_gene_variant SKCA-BR 1 224589403 224589404 deletion of <=200bp AG - intron_variant SKCA-BR 1 224589403 224589404 deletion of <=200bp AG - upstream_gene_variant SKCA-BR 1 224594824 224594829 deletion of <=200bp TAAAAA - intron_variant SKCA-BR 1 224594847 224594847 single base substitution A T intron_variant SKCA-BR 1 224594849 224594849 single base substitution A T intron_variant SKCA-BR 1 224594851 224594851 single base substitution A T intron_variant SKCA-BR 1 224594853 224594853 single base substitution A T intron_variant SKCA-BR 1 224596366 224596366 single base substitution G A downstream_gene_variant SKCA-BR 1 224596366 224596366 single base substitution G A intron_variant SKCA-BR 1 224597578 224597580 deletion of <=200bp GAA - downstream_gene_variant SKCA-BR 1 224597578 224597580 deletion of <=200bp GAA - intron_variant SKCA-BR 1 224614573 224614573 single base substitution T G downstream_gene_variant SKCA-BR 1 224614573 224614573 single base substitution T G intron_variant SKCA-BR 1 224615776 224615776 single base substitution G A downstream_gene_variant SKCA-BR 1 224615776 224615776 single base substitution G A intron_variant SKCA-BR 1 224616444 224616444 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 1 224616444 224616444 insertion of <=200bp - CA intron_variant SKCA-BR 1 224620389 224620389 single base substitution A C intron_variant SKCA-BR 1 224622654 224622654 single base substitution T G intron_variant SKCA-BR 1 224622654 224622654 single base substitution T G upstream_gene_variant SKCA-BR 1 224624144 224624144 single base substitution A G intron_variant SKCA-BR 1 224624144 224624144 single base substitution A G upstream_gene_variant SKCA-BR 1 224625119 224625119 single base substitution T G upstream_gene_variant SKCA-BR 1 224626195 224626195 single base substitution T C upstream_gene_variant SKCA-BR 1 224626957 224626957 single base substitution C T upstream_gene_variant SKCA-BR 1 224629663 224629663 single base substitution T G upstream_gene_variant SKCM-US 1 224581617 224581617 single base substitution T C 3_prime_UTR_variant SKCM-US 1 224581617 224581617 single base substitution T C downstream_gene_variant SKCM-US 1 224581617 224581617 single base substitution T C missense_variant I258V 772A>G SKCM-US 1 224581617 224581617 single base substitution T C missense_variant I478V 1432A>G SKCM-US 1 224581617 224581617 single base substitution T C missense_variant I625V 1873A>G SKCM-US 1 224619204 224619204 single base substitution G A exon_variant SKCM-US 1 224619204 224619204 single base substitution G A intron_variant SKCM-US 1 224619204 224619204 single base substitution G A missense_variant S201F 602C>T SKCM-US 1 224619204 224619204 single base substitution G A missense_variant S54F 161C>T STAD-US 1 224581610 224581610 single base substitution G A 3_prime_UTR_variant STAD-US 1 224581610 224581610 single base substitution G A downstream_gene_variant STAD-US 1 224581610 224581610 single base substitution G A missense_variant S260F 779C>T STAD-US 1 224581610 224581610 single base substitution G A missense_variant S480F 1439C>T STAD-US 1 224581610 224581610 single base substitution G A missense_variant S627F 1880C>T STAD-US 1 224586614 224586614 single base substitution G A 3_prime_UTR_variant STAD-US 1 224586614 224586614 single base substitution G A exon_variant STAD-US 1 224586614 224586614 single base substitution G A synonymous_variant F147F 441C>T STAD-US 1 224586614 224586614 single base substitution G A synonymous_variant F367F 1101C>T STAD-US 1 224586614 224586614 single base substitution G A synonymous_variant F514F 1542C>T STAD-US 1 224588663 224588663 single base substitution A C 3_prime_UTR_variant STAD-US 1 224588663 224588663 single base substitution A C exon_variant STAD-US 1 224588663 224588663 single base substitution A C missense_variant F103V 307T>G STAD-US 1 224588663 224588663 single base substitution A C missense_variant F323V 967T>G STAD-US 1 224588663 224588663 single base substitution A C missense_variant F470V 1408T>G STAD-US 1 224599216 224599216 single base substitution T C 3_prime_UTR_variant STAD-US 1 224599216 224599216 single base substitution T C downstream_gene_variant STAD-US 1 224599216 224599216 single base substitution T C synonymous_variant E210E 630A>G STAD-US 1 224599216 224599216 single base substitution T C synonymous_variant E357E 1071A>G STAD-US 1 224599216 224599216 single base substitution T C upstream_gene_variant STAD-US 1 224606064 224606064 single base substitution C T 3_prime_UTR_variant STAD-US 1 224606064 224606064 single base substitution C T downstream_gene_variant STAD-US 1 224606064 224606064 single base substitution C T exon_variant STAD-US 1 224606064 224606064 single base substitution C T missense_variant R159Q 476G>A STAD-US 1 224606064 224606064 single base substitution C T missense_variant R306Q 917G>A STAD-US 1 224607320 224607320 deletion of <=200bp A - intron_variant STAD-US 1 224607320 224607320 deletion of <=200bp A - splice_region_variant UCEC-US 1 224581563 224581563 single base substitution G A 3_prime_UTR_variant UCEC-US 1 224581563 224581563 single base substitution G A downstream_gene_variant UCEC-US 1 224581563 224581563 single base substitution G A missense_variant P276S 826C>T UCEC-US 1 224581563 224581563 single base substitution G A missense_variant P496S 1486C>T UCEC-US 1 224581563 224581563 single base substitution G A missense_variant P643S 1927C>T UCEC-US 1 224581616 224581616 single base substitution A C 3_prime_UTR_variant UCEC-US 1 224581616 224581616 single base substitution A C downstream_gene_variant UCEC-US 1 224581616 224581616 single base substitution A C missense_variant I258S 773T>G UCEC-US 1 224581616 224581616 single base substitution A C missense_variant I478S 1433T>G UCEC-US 1 224581616 224581616 single base substitution A C missense_variant I625S 1874T>G UCEC-US 1 224581651 224581651 single base substitution T A 3_prime_UTR_variant UCEC-US 1 224581651 224581651 single base substitution T A downstream_gene_variant UCEC-US 1 224581651 224581651 single base substitution T A synonymous_variant T246T 738A>T UCEC-US 1 224581651 224581651 single base substitution T A synonymous_variant T466T 1398A>T UCEC-US 1 224581651 224581651 single base substitution T A synonymous_variant T613T 1839A>T UCEC-US 1 224585799 224585799 single base substitution C T exon_variant UCEC-US 1 224585799 224585799 single base substitution C T missense_variant D225N 673G>A UCEC-US 1 224585799 224585799 single base substitution C T missense_variant D445N 1333G>A UCEC-US 1 224585799 224585799 single base substitution C T missense_variant D592N 1774G>A UCEC-US 1 224585799 224585799 single base substitution C T splice_region_variant UCEC-US 1 224586687 224586687 single base substitution C T 3_prime_UTR_variant UCEC-US 1 224586687 224586687 single base substitution C T exon_variant UCEC-US 1 224586687 224586687 single base substitution C T missense_variant C123Y 368G>A UCEC-US 1 224586687 224586687 single base substitution C T missense_variant C343Y 1028G>A UCEC-US 1 224586687 224586687 single base substitution C T missense_variant C490Y 1469G>A UCEC-US 1 224588661 224588661 single base substitution G A 3_prime_UTR_variant UCEC-US 1 224588661 224588661 single base substitution G A exon_variant UCEC-US 1 224588661 224588661 single base substitution G A synonymous_variant F103F 309C>T UCEC-US 1 224588661 224588661 single base substitution G A synonymous_variant F323F 969C>T UCEC-US 1 224588661 224588661 single base substitution G A synonymous_variant F470F 1410C>T UCEC-US 1 224599232 224599232 single base substitution G A 3_prime_UTR_variant UCEC-US 1 224599232 224599232 single base substitution G A downstream_gene_variant UCEC-US 1 224599232 224599232 single base substitution G A missense_variant T205M 614C>T UCEC-US 1 224599232 224599232 single base substitution G A missense_variant T352M 1055C>T UCEC-US 1 224599232 224599232 single base substitution G A upstream_gene_variant UCEC-US 1 224605963 224605963 single base substitution T C downstream_gene_variant UCEC-US 1 224605963 224605963 single base substitution T C missense_variant R193G 577A>G UCEC-US 1 224605963 224605963 single base substitution T C missense_variant R340G 1018A>G UCEC-US 1 224605963 224605963 single base substitution T C splice_region_variant UCEC-US 1 224606036 224606036 single base substitution C A 3_prime_UTR_variant UCEC-US 1 224606036 224606036 single base substitution C A downstream_gene_variant UCEC-US 1 224606036 224606036 single base substitution C A exon_variant UCEC-US 1 224606036 224606036 single base substitution C A synonymous_variant R168R 504G>T UCEC-US 1 224606036 224606036 single base substitution C A synonymous_variant R315R 945G>T UCEC-US 1 224612238 224612238 single base substitution C T 3_prime_UTR_variant UCEC-US 1 224612238 224612238 single base substitution C T downstream_gene_variant UCEC-US 1 224612238 224612238 single base substitution C T exon_variant UCEC-US 1 224612238 224612238 single base substitution C T missense_variant R102H 305G>A UCEC-US 1 224612238 224612238 single base substitution C T missense_variant R249H 746G>A UCEC-US 1 224612259 224612259 single base substitution G A 3_prime_UTR_variant UCEC-US 1 224612259 224612259 single base substitution G A downstream_gene_variant UCEC-US 1 224612259 224612259 single base substitution G A exon_variant UCEC-US 1 224612259 224612259 single base substitution G A missense_variant P242L 725C>T UCEC-US 1 224612259 224612259 single base substitution G A missense_variant P95L 284C>T UCEC-US 1 224612384 224612384 single base substitution G A downstream_gene_variant UCEC-US 1 224612384 224612384 single base substitution G A exon_variant UCEC-US 1 224612384 224612384 single base substitution G A intron_variant UCEC-US 1 224612384 224612384 single base substitution G A missense_variant P206L 617C>T UCEC-US 1 224619245 224619245 single base substitution A C exon_variant UCEC-US 1 224619245 224619245 single base substitution A C missense_variant H187Q 561T>G UCEC-US 1 224619245 224619245 single base substitution A C missense_variant H40Q 120T>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand S00827 COSM316519 c.425A>G p.Y142C Substitution - Missense 1:224418413-224418413 - TCGA-AX-A0J0-01 COSM904529 c.561T>G p.H187Q Substitution - Missense 1:224431543-224431543 - S00827 COSM316519 c.425A>G p.Y142C Substitution - Missense 1:224418413-224418413 - TCGA-EI-6507-01 COSM1560258 c.739A>G p.T247A Substitution - Missense 1:224424543-224424543 - TCGA-A5-A0GB-01 COSM904525 c.945G>T p.R315R Substitution - coding silent 1:224418334-224418334 - YUWAND COSM1689913 c.266T>C p.L89P Substitution - Missense 1:224424575-224424575 - T3479 COSM4740923 c.1356C>T p.H452H Substitution - coding silent 1:224393991-224393991 - TCGA-66-2763-01 COSM679393 c.584A>T p.Q195L Substitution - Missense 1:224411560-224411560 - 2492703 COSM5730136 c.689_690insT p.E231fs*9 Insertion - Frameshift 1:224424592-224424593 - YUKAT COSM5379785 c.872G>A p.R291K Substitution - Missense 1:224401056-224401056 - ATL071 COSM5705238 c.256G>A p.A86T Substitution - Missense 1:224433850-224433850 - LUAD-S01405 COSM399038 c.720G>A p.L240L Substitution - coding silent 1:224424562-224424562 - 2492703 COSM5716675 c.687C>T p.V229V Substitution - coding silent 1:224424595-224424595 - 030T COSM1728346 c.1262C>G p.P421R Substitution - Missense 1:224404467-224404467 - TCGA-B5-A11E-01 COSM904521 c.1055C>T p.T352M Substitution - Missense 1:224411530-224411530 - 3N35-VS-3T35 COSM4981027 c.1186A>C p.T396P Substitution - Missense 1:224404543-224404543 - TCGA-G3-A25V-01 COSM4914710 c.1348A>G p.T450A Substitution - Missense 1:224401021-224401021 - TCGA-BR-8373-01 COSM4028642 c.476G>A p.R159Q Substitution - Missense 1:224418362-224418362 - 2492703 COSM5730137 c.248_249insT p.E84fs*9 Insertion - Frameshift 1:224424592-224424593 - CHC1152T COSM4791218 c.1305A>G p.G435G Substitution - coding silent 1:224401064-224401064 - YUSCA COSM5379786 c.1055C>G p.T352R Substitution - Missense 1:224411530-224411530 - TCGA-BR-6452-01 COSM4028639 c.1071A>G p.E357E Substitution - coding silent 1:224411514-224411514 - S00827 COSM316520 c.866A>G p.Y289C Substitution - Missense 1:224418413-224418413 - V-PH-13T COSM4770382 c.1322T>C p.M441T Substitution - Missense 1:224401047-224401047 - TCGA-A2-A0EQ-01 COSM425424 c.1218T>C p.Y406Y Substitution - coding silent 1:224404511-224404511 - TARGET-20-PASVYL-09A-01D COSM5487585 c.25G>C p.E9Q Substitution - Missense 1:224431738-224431738 - TCGA-BC-A10Q-01 COSM308580 c.1213T>A p.L405I Substitution - Missense 1:224398217-224398217 - RK006_C02 COSM1626842 c.820C>T p.P274S Substitution - Missense 1:224404468-224404468 - HCC2998 COSM1668512 c.773C>A p.S258Y Substitution - Missense 1:224404515-224404515 - YUKAT COSM5379784 c.1313G>A p.R438K Substitution - Missense 1:224401056-224401056 - TCGA-B5-A0JY-01 COSM904528 c.284C>T p.P95L Substitution - Missense 1:224424557-224424557 - TCGA-BR-6452-01 COSM4028640 c.630A>G p.E210E Substitution - coding silent 1:224411514-224411514 - TARGET-20-PASVYL-09A-01D COSM5487584 c.466G>C p.E156Q Substitution - Missense 1:224431738-224431738 - Sample_1 COSM4997555 c.356G>A p.R119H Substitution - Missense 1:224419583-224419583 - A9 COSM5350056 c.747A>G p.T249T Substitution - coding silent 1:224404541-224404541 - TCGA-AX-A05S-01 COSM904516 c.1333G>A p.D445N Substitution - Missense 1:224398097-224398097 - YURAY COSM5379788 c.833C>T p.S278F Substitution - Missense 1:224419547-224419547 - 1758083 COSM308580 c.1213T>A p.L405I Substitution - Missense 1:224398217-224398217 - C0034T COSM4135984 c.979-7T>G p.? Unknown 1:224399041-224399041 - TCGA-A5-A0VP-01 COSM904510 c.1486C>T p.P496S Substitution - Missense 1:224393861-224393861 - HCC2998 COSM1668511 c.1214C>A p.S405Y Substitution - Missense 1:224404515-224404515 - TCGA-A2-A0EQ-01 COSM425425 c.777T>C p.Y259Y Substitution - coding silent 1:224404511-224404511 - TCGA-AP-A059-01 COSM904520 c.969C>T p.F323F Substitution - coding silent 1:224400959-224400959 - TCGA-BT-A3PK-01 COSM3789547 c.1333C>T p.H445Y Substitution - Missense 1:224401036-224401036 - LUAD-S01405 COSM399039 c.279G>A p.L93L Substitution - coding silent 1:224424562-224424562 - A9 COSM5350055 c.1188A>G p.T396T Substitution - coding silent 1:224404541-224404541 - CSCC-29-T COSM4556241 c.684G>A p.K228K Substitution - coding silent 1:224424598-224424598 - TCGA-AO-A12H-01 COSM425427 c.409G>T p.D137Y Substitution - Missense 1:224419530-224419530 - HCC2998 COSM1668512 c.773C>A p.S258Y Substitution - Missense 1:224404515-224404515 - CHC197T COSM3746816 c.388C>A p.L130I Substitution - Missense 1:224433718-224433718 - TCGA-66-2763-01 COSM679392 c.1025A>T p.Q342L Substitution - Missense 1:224411560-224411560 - TCGA-DD-A39X-01 COSM4940665 c.1338A>G p.E446E Substitution - coding silent 1:224401031-224401031 - 2492702 COSM5716676 c.246C>T p.V82V Substitution - coding silent 1:224424595-224424595 - ESCC_BICR_040T COSM5429818 c.1085T>C p.I362T Substitution - Missense 1:224398928-224398928 - TCGA-EE-A3J5-06 COSM3484186 c.1873A>G p.I625V Substitution - Missense 1:224393915-224393915 - Pat_74_B COSM5845628 c.806T>C p.L269P Substitution - Missense 1:224404482-224404482 - 1758083 COSM308581 c.1654T>A p.L552I Substitution - Missense 1:224398217-224398217 - HCT8 COSM4633587 c.558T>C p.L186L Substitution - coding silent 1:224418280-224418280 - HCC014T COSM5814469 c.1909A>T p.T637S Substitution - Missense 1:224393879-224393879 - TCGA-B2-4098-01 COSM464013 c.1648G>A p.V550I Substitution - Missense 1:224398223-224398223 - TCGA-FR-A3YN-06 COSM3484189 c.161C>T p.S54F Substitution - Missense 1:224431502-224431502 - CHEWS011 COSM4576951 c.1039T>C p.L347L Substitution - coding silent 1:224398974-224398974 - 2492702 COSM5716675 c.687C>T p.V229V Substitution - coding silent 1:224424595-224424595 - TCGA-BR-8680-01 COSM4028636 c.1101C>T p.F367F Substitution - coding silent 1:224398912-224398912 - S00945 COSM316522 c.630G>A p.R210R Substitution - coding silent 1:224424652-224424652 - YUKAT COSM5379791 c.176G>A p.G59E Substitution - Missense 1:224431487-224431487 - Pat_74_A COSM5845628 c.806T>C p.L269P Substitution - Missense 1:224404482-224404482 - 2492701 COSM5716675 c.687C>T p.V229V Substitution - coding silent 1:224424595-224424595 - H522 COSM1196999 c.1889C>T p.A630V Substitution - Missense 1:224393899-224393899 - TCGA-BR-7958-01 COSM4028637 c.1408T>G p.F470V Substitution - Missense 1:224400961-224400961 - TCGA-BP-4991-01 COSM464015 c.1112C>A p.A371E Substitution - Missense 1:224411473-224411473 - TCGA-BP-4762-01 COSM3360703 c.896G>C p.R299P Substitution - Missense 1:224418383-224418383 - TCGA-AC-A3W5-01 COSM3484186 c.1873A>G p.I625V Substitution - Missense 1:224393915-224393915 - TCGA-K4-A3WS-01 COSM3789549 c.1118G>C p.G373A Substitution - Missense 1:224411467-224411467 - HCC078T COSM5806123 c.536A>G p.N179S Substitution - Missense 1:224418302-224418302 - TCGA-CM-6162-01 COSM1339169 c.710G>A p.R237H Substitution - Missense 1:224424572-224424572 - 2492703 COSM5716676 c.246C>T p.V82V Substitution - coding silent 1:224424595-224424595 - ACINAR15 COSM1733917 c.557T>A p.L186H Substitution - Missense 1:224418281-224418281 - TCGA-B5-A0JY-01 COSM904527 c.725C>T p.P242L Substitution - Missense 1:224424557-224424557 - HCC078T COSM5806122 c.977A>G p.N326S Substitution - Missense 1:224418302-224418302 - TCGA-DY-A1H8-01 COSM1560261 c.1282C>A p.H428N Substitution - Missense 1:224398148-224398148 - TCGA-B5-A11E-01 COSM904512 c.1433T>G p.I478S Substitution - Missense 1:224393914-224393914 - TCGA-BR-8373-01 COSM4028641 c.917G>A p.R306Q Substitution - Missense 1:224418362-224418362 - PD9575a COSM5769617 c.1841G>A p.R614H Substitution - Missense 1:224393947-224393947 - ESO-859 COSM1240643 c.1838C>T p.T613I Substitution - Missense 1:224393950-224393950 - YUKLAB COSM1689911 c.1091G>C p.G364A Substitution - Missense 1:224398922-224398922 - YUWAND COSM1689912 c.707T>C p.L236P Substitution - Missense 1:224424575-224424575 - 2492722 COSM5730203 c.36_62del27 p.G17_G25delGGGGGGGGG Deletion - In frame 1:224434044-224434070 - S01529 COSM4386848 c.978+2T>A p.? Unknown 1:224400948-224400948 - TCGA-AO-A12H-01 COSM425426 c.850G>T p.D284Y Substitution - Missense 1:224419530-224419530 - TCGA-AA-3930-01 COSM296645 c.1027T>A p.F343I Substitution - Missense 1:224411558-224411558 - TCGA-A5-A0GB-01 COSM904526 c.504G>T p.R168R Substitution - coding silent 1:224418334-224418334 - CHC1152T COSM4791218 c.1305A>G p.G435G Substitution - coding silent 1:224401064-224401064 - TCGA-A6-6780-01 COSM1339168 c.880_881insA p.M294fs*6 Insertion - Frameshift 1:224401047-224401048 - S00827 COSM316520 c.866A>G p.Y289C Substitution - Missense 1:224418413-224418413 - TCGA-A5-A0VP-01 COSM904509 c.1927C>T p.P643S Substitution - Missense 1:224393861-224393861 - 2492700 COSM5730137 c.248_249insT p.E84fs*9 Insertion - Frameshift 1:224424592-224424593 - J85_T COSM3977089 c.822A>T p.K274N Substitution - Missense 1:224419558-224419558 - TCGA-29-1775-01 COSM1320447 c.345A>C p.A115A Substitution - coding silent 1:224419594-224419594 - YUKAT COSM5379790 c.617G>A p.G206E Substitution - Missense 1:224431487-224431487 - I2L-P19Tb-Tumor-Biopsy COSM5353040 c.1400G>A p.R467H Substitution - Missense 1:224400969-224400969 - YUSCA COSM5379787 c.614C>G p.T205R Substitution - Missense 1:224411530-224411530 - PD4123a COSM165563 c.339C>T p.S113S Substitution - coding silent 1:224433767-224433767 - TCGA-BR-8680-01 COSM4028635 c.1542C>T p.F514F Substitution - coding silent 1:224398912-224398912 - 2492701 COSM5716676 c.246C>T p.V82V Substitution - coding silent 1:224424595-224424595 - 587278 COSM1232568 c.502C>T p.R168W Substitution - Missense 1:224418336-224418336 - TCGA-BP-4790-01 COSM3360701 c.1508C>A p.S503* Substitution - Nonsense 1:224398946-224398946 - 587278 COSM1232567 c.943C>T p.R315W Substitution - Missense 1:224418336-224418336 - TCGA-CK-5913-01 COSM1339163 c.1821G>A p.A607A Substitution - coding silent 1:224393967-224393967 - ESCC-D2 COSM5045762 c.1802G>A p.R601H Substitution - Missense 1:224393986-224393986 - TCGA-AA-A010-01 COSM286504 c.1528C>T p.R510W Substitution - Missense 1:224398926-224398926 - T2269 COSM4740927 c.282G>A p.T94T Substitution - coding silent 1:224424559-224424559 - TCGA-FU-A3HZ-01 COSM4838905 c.310C>A p.H104N Substitution - Missense 1:224424531-224424531 - TCGA-AC-A3W5-01 COSM3484187 c.1432A>G p.I478V Substitution - Missense 1:224393915-224393915 - HCC014T COSM5814470 c.1468A>T p.T490S Substitution - Missense 1:224393879-224393879 - A9 COSM5350054 c.1232G>A p.R411K Substitution - Missense 1:224398198-224398198 - 2492702 COSM5730136 c.689_690insT p.E231fs*9 Insertion - Frameshift 1:224424592-224424593 - I2L-P19Tb-Tumor-Organoid COSM5353040 c.1400G>A p.R467H Substitution - Missense 1:224400969-224400969 - 2492701 COSM5730136 c.689_690insT p.E231fs*9 Insertion - Frameshift 1:224424592-224424593 - TCGA-BT-A3PK-01 COSM3789548 c.892C>T p.H298Y Substitution - Missense 1:224401036-224401036 - S01567 COSM4386863 c.504delG p.C169fs*12 Deletion - Frameshift 1:224418334-224418334 - HCT8 COSM4633586 c.999T>C p.L333L Substitution - coding silent 1:224418280-224418280 - TCGA-FD-A3SN-01 COSM3789546 c.1515T>G p.I505M Substitution - Missense 1:224393832-224393832 - TCGA-B5-A11E-01 COSM904523 c.1018A>G p.R340G Substitution - Missense 1:224418261-224418261 - ACINAR15 COSM1733916 c.998T>A p.L333H Substitution - Missense 1:224418281-224418281 - ESO-153 COSM1270383 c.774T>C p.S258S Substitution - coding silent 1:224404514-224404514 - 2492702 COSM5730137 c.248_249insT p.E84fs*9 Insertion - Frameshift 1:224424592-224424593 - TCGA-AP-A051-01 COSM904518 c.1028G>A p.C343Y Substitution - Missense 1:224398985-224398985 - 2246947 COSM4413590 c.471_472insT p.L158fs*20 Insertion - Frameshift 1:224418366-224418367 - TCGA-FR-A3YN-06 COSM3484188 c.602C>T p.S201F Substitution - Missense 1:224431502-224431502 - 2492700 COSM5716676 c.246C>T p.V82V Substitution - coding silent 1:224424595-224424595 - TCGA-B5-A0JT-01 COSM904513 c.1839A>T p.T613T Substitution - coding silent 1:224393949-224393949 - TCGA-AA-3492-01 COSM1339171 c.566_568delCTC p.P189delP Deletion - In frame 1:224431536-224431538 - T2269 COSM4740926 c.723G>A p.T241T Substitution - coding silent 1:224424559-224424559 - ESO-153 COSM1270382 c.1215T>C p.S405S Substitution - coding silent 1:224404514-224404514 - S01529 COSM4386847 c.1419+2T>A p.? Unknown 1:224400948-224400948 - T3658 COSM4740925 c.287T>C p.L96P Substitution - Missense 1:224424554-224424554 - RK308_C01 COSM3741042 c.1283A>G p.H428R Substitution - Missense 1:224398147-224398147 - TCGA-32-4211-01 COSM3400363 c.1173C>T p.G391G Substitution - coding silent 1:224398545-224398545 - Sample_1 COSM4997554 c.797G>A p.R266H Substitution - Missense 1:224419583-224419583 - I2L-P19Tb-Tumor-Biopsy COSM5353041 c.959G>A p.R320H Substitution - Missense 1:224400969-224400969 - S01567 COSM4386862 c.945delG p.C316fs*12 Deletion - Frameshift 1:224418334-224418334 - TCGA-AA-3930-01 COSM296644 c.586T>A p.F196I Substitution - Missense 1:224411558-224411558 - HCC2998 COSM1668511 c.1214C>A p.S405Y Substitution - Missense 1:224404515-224404515 - TCGA-K4-A3WS-01 COSM3789550 c.677G>C p.G226A Substitution - Missense 1:224411467-224411467 - H522 COSM1197000 c.1448C>T p.A483V Substitution - Missense 1:224393899-224393899 - T1154 COSM4740920 c.1930G>T p.A644S Substitution - Missense 1:224393858-224393858 - TCGA-A6-6780-01 COSM1339167 c.1321_1322insA p.M441fs*6 Insertion - Frameshift 1:224401047-224401048 - 3N35-VS-3T35 COSM4981028 c.745A>C p.T249P Substitution - Missense 1:224404543-224404543 - ESCC-D2 COSM5045763 c.1361G>A p.R454H Substitution - Missense 1:224393986-224393986 - GBM_IV-36 COSM4967237 c.154G>A p.D52N Substitution - Missense 1:224433952-224433952 - YUKLAB COSM1689910 c.1532G>C p.G511A Substitution - Missense 1:224398922-224398922 - TCGA-B5-A11E-01 COSM904524 c.577A>G p.R193G Substitution - Missense 1:224418261-224418261 - TCGA-G4-6303-01 COSM1339165 c.1705C>T p.Q569* Substitution - Nonsense 1:224398166-224398166 - TCGA-EI-6507-01 COSM1560259 c.298A>G p.T100A Substitution - Missense 1:224424543-224424543 - 2246947 COSM4413589 c.912_913insT p.L305fs*20 Insertion - Frameshift 1:224418366-224418367 - TCGA-FD-A3SN-01 COSM3789545 c.1956T>G p.I652M Substitution - Missense 1:224393832-224393832 - PD9575a COSM5769618 c.1400G>A p.R467H Substitution - Missense 1:224393947-224393947 - 2492721 COSM5730203 c.36_62del27 p.G17_G25delGGGGGGGGG Deletion - In frame 1:224434044-224434070 - TCGA-HU-A4GT-01 COSM4028634 c.1439C>T p.S480F Substitution - Missense 1:224393908-224393908 - TCGA-34-5236-01 COSM679395 c.1522G>T p.E508* Substitution - Nonsense 1:224389858-224389858 - Pat_74_B COSM5845627 c.1247T>C p.L416P Substitution - Missense 1:224404482-224404482 - TCGA-AX-A05S-01 COSM904515 c.1774G>A p.D592N Substitution - Missense 1:224398097-224398097 - 2492720 COSM5730203 c.36_62del27 p.G17_G25delGGGGGGGGG Deletion - In frame 1:224434044-224434070 - TCGA-29-1775-01 COSM1320446 c.786A>C p.A262A Substitution - coding silent 1:224419594-224419594 - TCGA-AN-A0FV-01 COSM425423 c.826G>C p.D276H Substitution - Missense 1:224404462-224404462 - TCGA-AX-A063-01 COSM210134 c.746G>A p.R249H Substitution - Missense 1:224424536-224424536 - TCGA-DY-A1H8-01 COSM1560260 c.1723C>A p.H575N Substitution - Missense 1:224398148-224398148 - TCGA-DD-A39X-01 COSM4940666 c.897A>G p.E299E Substitution - coding silent 1:224401031-224401031 - C0034T COSM4135983 c.1420-7T>G p.? Unknown 1:224399041-224399041 - A9 COSM5350053 c.1673G>A p.R558K Substitution - Missense 1:224398198-224398198 - TARGET-30-PASEGA COSM1288932 c.1646G>C p.G549A Substitution - Missense 1:224398225-224398225 - S00945 COSM316521 c.189G>A p.R63R Substitution - coding silent 1:224424652-224424652 - S00945 COSM316522 c.630G>A p.R210R Substitution - coding silent 1:224424652-224424652 - TCGA-IR-A3LH-01 COSM4832420 c.228C>T p.V76V Substitution - coding silent 1:224433878-224433878 - YURAY COSM5379789 c.392C>T p.S131F Substitution - Missense 1:224419547-224419547 - TCGA-AA-3492-01 COSM1339172 c.125_127delCTC p.P42delP Deletion - In frame 1:224431536-224431538 - TCGA-AN-A0FV-01 COSM425422 c.1267G>C p.D423H Substitution - Missense 1:224404462-224404462 - TCGA-BC-A10Q-01 COSM308581 c.1654T>A p.L552I Substitution - Missense 1:224398217-224398217 - TCGA-32-4211-01 COSM3400362 c.1614C>T p.G538G Substitution - coding silent 1:224398545-224398545 - TCGA-AP-A051-01 COSM904517 c.1469G>A p.C490Y Substitution - Missense 1:224398985-224398985 - 2492723 COSM5730203 c.36_62del27 p.G17_G25delGGGGGGGGG Deletion - In frame 1:224434044-224434070 - TCGA-BR-7958-01 COSM4028638 c.967T>G p.F323V Substitution - Missense 1:224400961-224400961 - ESCC_BICR_040T COSM5429817 c.1526T>C p.I509T Substitution - Missense 1:224398928-224398928 - TCGA-B5-A0JT-01 COSM904514 c.1398A>T p.T466T Substitution - coding silent 1:224393949-224393949 - TCGA-BP-4790-01 COSM3360702 c.1067C>A p.S356* Substitution - Nonsense 1:224398946-224398946 - TCGA-AX-A0J0-01 COSM904530 c.120T>G p.H40Q Substitution - Missense 1:224431543-224431543 - I2L-P19Tb-Tumor-Organoid COSM5353041 c.959G>A p.R320H Substitution - Missense 1:224400969-224400969 - 2492701 COSM5730137 c.248_249insT p.E84fs*9 Insertion - Frameshift 1:224424592-224424593 - TCGA-BP-4762-01 COSM3360704 c.455G>C p.R152P Substitution - Missense 1:224418383-224418383 - TCGA-G3-A25V-01 COSM4914711 c.907A>G p.T303A Substitution - Missense 1:224401021-224401021 - TCGA-HU-A4GT-01 COSM4028633 c.1880C>T p.S627F Substitution - Missense 1:224393908-224393908 - CHC1152T COSM4791219 c.864A>G p.G288G Substitution - coding silent 1:224401064-224401064 - V-PH-13T COSM4770383 c.881T>C p.M294T Substitution - Missense 1:224401047-224401047 - CHEWS011 COSM4576950 c.1480T>C p.L494L Substitution - coding silent 1:224398974-224398974 - TARGET-30-PASEGA COSM1288933 c.1205G>C p.G402A Substitution - Missense 1:224398225-224398225 - T3658 COSM4740924 c.728T>C p.L243P Substitution - Missense 1:224424554-224424554 - TCGA-AA-A010-01 COSM286503 c.1087C>T p.R363W Substitution - Missense 1:224398926-224398926 - RK308_C01 COSM3741041 c.1724A>G p.H575R Substitution - Missense 1:224398147-224398147 - J85_T COSM3977090 c.381A>T p.K127N Substitution - Missense 1:224419558-224419558 - ESO-859 COSM1240644 c.1397C>T p.T466I Substitution - Missense 1:224393950-224393950 - ME009T COSM222649 c.423-1G>A p.? Unknown 1:224431782-224431782 - CSCC-29-T COSM4556242 c.243G>A p.K81K Substitution - coding silent 1:224424598-224424598 - TCGA-AX-A063-01 COSM210133 c.305G>A p.R102H Substitution - Missense 1:224424536-224424536 - TCGA-FU-A3HZ-01 COSM4838904 c.751C>A p.H251N Substitution - Missense 1:224424531-224424531 - TCGA-AP-A059-01 COSM904519 c.1410C>T p.F470F Substitution - coding silent 1:224400959-224400959 - 030T COSM1728347 c.821C>G p.P274R Substitution - Missense 1:224404467-224404467 - RK006_C02 COSM1626841 c.1261C>T p.P421S Substitution - Missense 1:224404468-224404468 - 2492700 COSM5716675 c.687C>T p.V229V Substitution - coding silent 1:224424595-224424595 - T3479 COSM4740922 c.1797C>T p.H599H Substitution - coding silent 1:224393991-224393991 - TCGA-BP-4991-01 COSM464016 c.671C>A p.A224E Substitution - Missense 1:224411473-224411473 - TCGA-G4-6303-01 COSM1339166 c.1264C>T p.Q422* Substitution - Nonsense 1:224398166-224398166 - T1154 COSM4740921 c.1489G>T p.A497S Substitution - Missense 1:224393858-224393858 - TCGA-EE-A3J5-06 COSM3484187 c.1432A>G p.I478V Substitution - Missense 1:224393915-224393915 - 2492700 COSM5730136 c.689_690insT p.E231fs*9 Insertion - Frameshift 1:224424592-224424593 - TCGA-B5-A11E-01 COSM904522 c.614C>T p.T205M Substitution - Missense 1:224411530-224411530 - CHC1152T COSM4791219 c.864A>G p.G288G Substitution - coding silent 1:224401064-224401064 - Pat_74_A COSM5845627 c.1247T>C p.L416P Substitution - Missense 1:224404482-224404482 - TCGA-CK-5913-01 COSM1339164 c.1380G>A p.A460A Substitution - coding silent 1:224393967-224393967 - S00945 COSM316521 c.189G>A p.R63R Substitution - coding silent 1:224424652-224424652 - TCGA-CM-6162-01 COSM1339170 c.269G>A p.R90H Substitution - Missense 1:224424572-224424572 - TCGA-B5-A11E-01 COSM904511 c.1874T>G p.I625S Substitution - Missense 1:224393914-224393914 - TCGA-34-5236-01 COSM679394 c.1963G>T p.E655* Substitution - Nonsense 1:224389858-224389858 - TCGA-B2-4098-01 COSM464014 c.1207G>A p.V403I Substitution - Missense 1:224398223-224398223 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.497873 1q42.13 2433571|CGAP|BC063817|G/T|non-coding||3870|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.S405S c.1215T>C 1 224592216 ESCA A G Synonymous p.Y406Y c.1218T>C 1 224592213 BRCA A T Missense p.F343I c.1027T>A 1 224599260 COREAD C A Missense p.D284Y c.850G>T 1 224607232 BRCA C A Nonsense p.E655* c.1963G>T 1 224577560 LUSC C A Synonymous p.R315R c.945G>T 1 224606036 UCEC CCG - InFrameDeletion p.G25delG c.48_50delCGG 1 224621758 PRAD CCT - InFrameDeletion p.G25delG c.33_35delAGG 1 224621773 PRAD C G 3-UTRSNV . c.1983+2633G>C 1 224574907 HC C G Missense p.D423H c.1267G>C 1 224592164 BRCA C G Missense p.G549A c.1646G>C 1 224585927 NB C G Missense p.R299P c.896G>C 1 224606085 RCCC C T 3-UTRSNV . c.1983+111G>A 1 224577429 ESCA C T Missense p.D592N c.1774G>A 1 224585799 UCEC C T Missense p.R249H c.746G>A 1 224612238 UCEC C T Missense p.R438K c.1313G>A 1 224588758 CM C T Missense p.R539Q c.1616G>A 1 224586245 LUAD C T Synonymous p.K115K c.345G>A 1 224621463 BRCA C T Synonymous p.R210R c.630G>A 1 224612354 SCLC G A IntronicSNV . c.628-12C>T 1 224612368 BRCA G A Missense p.H445Y c.1333C>T 1 224588738 BLCA G A Missense p.P421S c.1261C>T 1 224592170 HC G A Missense p.P643S c.1927C>T 1 224581563 UCEC G A Missense p.T613I c.1838C>T 1 224581652 ESCA G A Synonymous p.D474D c.1422C>T 1 224586734 CM G A Synonymous p.G538G c.1614C>T 1 224586247 GBM G A Synonymous p.S113S c.339C>T 1 224621469 BRCA G T Missense p.A371E c.1112C>A 1 224599175 RCCC G T Nonsense p.S503* c.1508C>A 1 224586648 RCCC T A Missense p.Q342L c.1025A>T 1 224599262 LUSC T A Synonymous p.T613T c.1839A>T 1 224581651 UCEC T C Missense p.I625V c.1873A>G 1 224581617 CM T C Missense p.Y256C c.767A>G 1 224607315 HNSC T C Missense p.Y289C c.866A>G 1 224606115 SCLC