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 7 138145484 138145484 + Missense_Mutation SNP A A G TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr7:138145484A>G c.191A>G c.(190-192)cAg>cGg p.Q64R BLCA 7 138189076 138189076 + Missense_Mutation SNP G G A TCGA-4Z-AA81-01A-11D-A391-08 TCGA-4Z-AA81-10A-01D-A394-08 g.chr7:138189076G>A c.406G>A c.(406-408)Gag>Aag p.E136K BLCA 7 138189078 138189078 + Silent SNP G G A TCGA-4Z-AA81-01A-11D-A391-08 TCGA-4Z-AA81-10A-01D-A394-08 g.chr7:138189078G>A c.408G>A c.(406-408)gaG>gaA p.E136E BLCA 7 138189118 138189118 + Missense_Mutation SNP G G A TCGA-4Z-AA81-01A-11D-A391-08 TCGA-4Z-AA81-10A-01D-A394-08 g.chr7:138189118G>A c.448G>A c.(448-450)Gag>Aag p.E150K BLCA 7 138200032 138200032 + Missense_Mutation SNP T T A TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr7:138200032T>A c.559T>A c.(559-561)Tgt>Agt p.C187S BLCA 7 138203978 138203978 + Missense_Mutation SNP C C T TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr7:138203978C>T c.676C>T c.(676-678)Cat>Tat p.H226Y BLCA 7 138223425 138223425 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr7:138223425G>A c.1020G>A c.(1018-1020)atG>atA p.M340I BLCA 7 138239673 138239673 + Missense_Mutation SNP A A G TCGA-CF-A9FM-01A-11D-A38G-08 TCGA-CF-A9FM-10A-01D-A38J-08 g.chr7:138239673A>G c.1492A>G c.(1492-1494)Atg>Gtg p.M498V BLCA 7 138255724 138255724 + Silent SNP T T C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 g.chr7:138255724T>C c.1854T>C c.(1852-1854)tcT>tcC p.S618S BLCA 7 138255747 138255747 + Splice_Site SNP A A G TCGA-XF-A9SL-01A-11D-A391-08 TCGA-XF-A9SL-10A-01D-A394-08 g.chr7:138255747A>G c.1877A>G c.(1876-1878)gAt>gGt p.D626G BLCA 7 138262239 138262239 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 g.chr7:138262239G>A c.2162G>A c.(2161-2163)cGa>cAa p.R721Q BLCA 7 138264033 138264033 + Missense_Mutation SNP G G A TCGA-4Z-AA7Q-01A-11D-A391-08 TCGA-4Z-AA7Q-10A-01D-A394-08 g.chr7:138264033G>A c.2341G>A c.(2341-2343)Gat>Aat p.D781N BLCA 7 138265335 138265335 + Missense_Mutation SNP G G C TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chr7:138265335G>C c.2614G>C c.(2614-2616)Gac>Cac p.D872H BLCA 7 138269523 138269523 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 g.chr7:138269523G>C c.2980G>C c.(2980-2982)Gaa>Caa p.E994Q BLCA 7 138269679 138269679 + Missense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 g.chr7:138269679C>T c.3136C>T c.(3136-3138)Cgc>Tgc p.R1046C BRCA 7 138189074 138189074 + Missense_Mutation SNP C C G TCGA-BH-A0AY-01A-21W-A019-09 TCGA-BH-A0AY-10A-01W-A021-09 g.chr7:138189074C>G c.404C>G c.(403-405)gCa>gGa p.A135G BRCA 7 138203954 138203954 + Nonsense_Mutation SNP C C T TCGA-A8-A07B-01A-11W-A019-09 TCGA-A8-A07B-10A-01W-A021-09 g.chr7:138203954C>T c.652C>T c.(652-654)Cag>Tag p.Q218* BRCA 7 138210015 138210015 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr7:138210015A>T c.794A>T c.(793-795)aAt>aTt p.N265I BRCA 7 138210052 138210052 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr7:138210052G>A c.831G>A c.(829-831)ctG>ctA p.L277L BRCA 7 138252293 138252293 + Missense_Mutation SNP C C A TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr7:138252293C>A c.1598C>A c.(1597-1599)cCt>cAt p.P533H BRCA 7 138269544 138269544 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr7:138269544C>G c.3001C>G c.(3001-3003)Cta>Gta p.L1001V BRCA 7 138269670 138269670 + Missense_Mutation SNP A A G TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr7:138269670A>G c.3127A>G c.(3127-3129)Att>Gtt p.I1043V CESC 7 138252327 138252327 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr7:138252327G>C c.1632G>C c.(1630-1632)caG>caC p.Q544H COAD 7 138189046 138189046 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:138189046C>T c.376C>T c.(376-378)Cgt>Tgt p.R126C COAD 7 138203943 138203943 + Missense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr7:138203943G>T c.641G>T c.(640-642)gGt>gTt p.G214V COAD 7 138203957 138203957 + Nonsense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr7:138203957C>T c.655C>T c.(655-657)Cga>Tga p.R219* COAD 7 138223420 138223420 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr7:138223420C>T c.1015C>T c.(1015-1017)Cgc>Tgc p.R339C COAD 7 138235835 138235835 + Missense_Mutation SNP C C T TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chr7:138235835C>T c.1171C>T c.(1171-1173)Cgt>Tgt p.R391C COAD 7 138235837 138235837 + Silent SNP T T C TCGA-AD-6888-01A-11D-1924-10 TCGA-AD-6888-10A-01D-1924-10 g.chr7:138235837T>C c.1173T>C c.(1171-1173)cgT>cgC p.R391R COAD 7 138235837 138235837 + Silent SNP T T C TCGA-CK-4948-01B-11D-1650-10 TCGA-CK-4948-10A-01D-1650-10 g.chr7:138235837T>C c.1173T>C c.(1171-1173)cgT>cgC p.R391R COAD 7 138235871 138235871 + Missense_Mutation SNP A A G TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr7:138235871A>G c.1207A>G c.(1207-1209)Acc>Gcc p.T403A COAD 7 138239456 138239456 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr7:138239456C>T c.1275C>T c.(1273-1275)atC>atT p.I425I COAD 7 138239520 138239520 + Missense_Mutation SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr7:138239520C>T c.1339C>T c.(1339-1341)Cca>Tca p.P447S COAD 7 138255599 138255599 + Missense_Mutation SNP A A G TCGA-AZ-6600-01A-11D-1771-10 TCGA-AZ-6600-11A-01D-1771-10 g.chr7:138255599A>G c.1729A>G c.(1729-1731)Acc>Gcc p.T577A COAD 7 138255599 138255599 + Missense_Mutation SNP A A G TCGA-AZ-6603-01A-11D-1835-10 TCGA-AZ-6603-11A-02D-1835-10 g.chr7:138255599A>G c.1729A>G c.(1729-1731)Acc>Gcc p.T577A COAD 7 138255599 138255599 + Missense_Mutation SNP A A G TCGA-DM-A1D8-01A-11D-A152-10 TCGA-DM-A1D8-10A-01D-A152-10 g.chr7:138255599A>G c.1729A>G c.(1729-1731)Acc>Gcc p.T577A COAD 7 138255599 138255599 + Missense_Mutation SNP A A G TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr7:138255599A>G c.1729A>G c.(1729-1731)Acc>Gcc p.T577A COAD 7 138261152 138261152 + Missense_Mutation SNP A A G TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr7:138261152A>G c.2049A>G c.(2047-2049)atA>atG p.I683M COAD 7 138262238 138262238 + Nonsense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr7:138262238C>T c.2161C>T c.(2161-2163)Cga>Tga p.R721* COAD 7 138262238 138262238 + Nonsense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr7:138262238C>T c.2161C>T c.(2161-2163)Cga>Tga p.R721* COAD 7 138264223 138264223 + Missense_Mutation SNP G G A TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr7:138264223G>A c.2531G>A c.(2530-2532)tGc>tAc p.C844Y COAD 7 138268670 138268670 + Missense_Mutation SNP T T C TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr7:138268670T>C c.2869T>C c.(2869-2871)Tcc>Ccc p.S957P COAD 7 138268672 138268672 + Silent SNP C C A TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr7:138268672C>A c.2871C>A c.(2869-2871)tcC>tcA p.S957S COAD 7 138268672 138268672 + Silent SNP C C T TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr7:138268672C>T c.2871C>T c.(2869-2871)tcC>tcT p.S957S COAD 7 138269548 138269548 + Missense_Mutation SNP A A G TCGA-A6-6782-01A-11D-1835-10 TCGA-A6-6782-10A-01D-1835-10 g.chr7:138269548A>G c.3005A>G c.(3004-3006)aAg>aGg p.K1002R COAD 7 138269548 138269548 + Missense_Mutation SNP A A G TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr7:138269548A>G c.3005A>G c.(3004-3006)aAg>aGg p.K1002R COAD 7 138269647 138269647 + Missense_Mutation SNP C C T TCGA-AA-A02W-01A-01W-A00E-09 TCGA-AA-A02W-10A-01W-A00E-09 g.chr7:138269647C>T c.3104C>T c.(3103-3105)cCc>cTc p.P1035L COADREAD 7 138189046 138189046 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:138189046C>T c.376C>T c.(376-378)Cgt>Tgt p.R126C COADREAD 7 138200067 138200067 + Silent SNP A A G TCGA-AG-A016-01A-01W-A005-10 TCGA-AG-A016-10A-01W-A005-10 g.chr7:138200067A>G c.594A>G c.(592-594)aaA>aaG p.K198K COADREAD 7 138203943 138203943 + Missense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr7:138203943G>T c.641G>T c.(640-642)gGt>gTt p.G214V COADREAD 7 138203957 138203957 + Nonsense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr7:138203957C>T c.655C>T c.(655-657)Cga>Tga p.R219* COADREAD 7 138223420 138223420 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr7:138223420C>T c.1015C>T c.(1015-1017)Cgc>Tgc p.R339C COADREAD 7 138235835 138235835 + Missense_Mutation SNP C C T TCGA-AZ-5403-01A-01D-1650-10 TCGA-AZ-5403-10A-01D-1650-10 g.chr7:138235835C>T c.1171C>T c.(1171-1173)Cgt>Tgt p.R391C COADREAD 7 138235837 138235837 + Silent SNP T T C TCGA-AD-6888-01A-11D-1924-10 TCGA-AD-6888-10A-01D-1924-10 g.chr7:138235837T>C c.1173T>C c.(1171-1173)cgT>cgC p.R391R COADREAD 7 138235837 138235837 + Silent SNP T T C TCGA-CK-4948-01B-11D-1650-10 TCGA-CK-4948-10A-01D-1650-10 g.chr7:138235837T>C c.1173T>C c.(1171-1173)cgT>cgC p.R391R COADREAD 7 138235871 138235871 + Missense_Mutation SNP A A C TCGA-F5-6813-01A-11D-1826-10 TCGA-F5-6813-10A-01D-1826-10 g.chr7:138235871A>C c.1207A>C c.(1207-1209)Acc>Ccc p.T403P COADREAD 7 138235871 138235871 + Missense_Mutation SNP A A G TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr7:138235871A>G c.1207A>G c.(1207-1209)Acc>Gcc p.T403A COADREAD 7 138239456 138239456 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr7:138239456C>T c.1275C>T c.(1273-1275)atC>atT p.I425I COADREAD 7 138239520 138239520 + Missense_Mutation SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr7:138239520C>T c.1339C>T c.(1339-1341)Cca>Tca p.P447S COADREAD 7 138255599 138255599 + Missense_Mutation SNP A A G TCGA-AZ-6600-01A-11D-1771-10 TCGA-AZ-6600-11A-01D-1771-10 g.chr7:138255599A>G c.1729A>G c.(1729-1731)Acc>Gcc p.T577A COADREAD 7 138255599 138255599 + Missense_Mutation SNP A A G TCGA-AZ-6603-01A-11D-1835-10 TCGA-AZ-6603-11A-02D-1835-10 g.chr7:138255599A>G c.1729A>G c.(1729-1731)Acc>Gcc p.T577A COADREAD 7 138255599 138255599 + Missense_Mutation SNP A A G TCGA-DM-A1D8-01A-11D-A152-10 TCGA-DM-A1D8-10A-01D-A152-10 g.chr7:138255599A>G c.1729A>G c.(1729-1731)Acc>Gcc p.T577A COADREAD 7 138255599 138255599 + Missense_Mutation SNP A A G TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr7:138255599A>G c.1729A>G c.(1729-1731)Acc>Gcc p.T577A COADREAD 7 138261152 138261152 + Missense_Mutation SNP A A G TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr7:138261152A>G c.2049A>G c.(2047-2049)atA>atG p.I683M COADREAD 7 138262232 138262232 + Missense_Mutation SNP C C T TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr7:138262232C>T c.2155C>T c.(2155-2157)Cca>Tca p.P719S COADREAD 7 138262238 138262238 + Nonsense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr7:138262238C>T c.2161C>T c.(2161-2163)Cga>Tga p.R721* COADREAD 7 138262238 138262238 + Nonsense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:138262238C>T c.2161C>T c.(2161-2163)Cga>Tga p.R721* COADREAD 7 138262238 138262238 + Nonsense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr7:138262238C>T c.2161C>T c.(2161-2163)Cga>Tga p.R721* COADREAD 7 138264223 138264223 + Missense_Mutation SNP G G A TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr7:138264223G>A c.2531G>A c.(2530-2532)tGc>tAc p.C844Y COADREAD 7 138268670 138268670 + Missense_Mutation SNP T T C TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr7:138268670T>C c.2869T>C c.(2869-2871)Tcc>Ccc p.S957P COADREAD 7 138268672 138268672 + Silent SNP C C A TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr7:138268672C>A c.2871C>A c.(2869-2871)tcC>tcA p.S957S COADREAD 7 138268672 138268672 + Silent SNP C C T TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr7:138268672C>T c.2871C>T c.(2869-2871)tcC>tcT p.S957S COADREAD 7 138268672 138268672 + Silent SNP C C T TCGA-EI-6510-01A-11D-1733-10 TCGA-EI-6510-10A-01D-1733-10 g.chr7:138268672C>T c.2871C>T c.(2869-2871)tcC>tcT p.S957S COADREAD 7 138269548 138269548 + Missense_Mutation SNP A A G TCGA-A6-6782-01A-11D-1835-10 TCGA-A6-6782-10A-01D-1835-10 g.chr7:138269548A>G c.3005A>G c.(3004-3006)aAg>aGg p.K1002R COADREAD 7 138269548 138269548 + Missense_Mutation SNP A A G TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr7:138269548A>G c.3005A>G c.(3004-3006)aAg>aGg p.K1002R COADREAD 7 138269647 138269647 + Missense_Mutation SNP C C T TCGA-AA-A02W-01A-01W-A00E-09 TCGA-AA-A02W-10A-01W-A00E-09 g.chr7:138269647C>T c.3104C>T c.(3103-3105)cCc>cTc p.P1035L ESCA 7 138189052 138189052 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 g.chr7:138189052C>T c.382C>T c.(382-384)Cca>Tca p.P128S ESCA 7 138189074 138189074 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 g.chr7:138189074C>T c.404C>T c.(403-405)gCa>gTa p.A135V ESCA 7 138189074 138189074 + Missense_Mutation SNP C C T TCGA-LN-A4A5-01A-21D-A27G-09 TCGA-LN-A4A5-10A-01D-A27G-09 g.chr7:138189074C>T c.404C>T c.(403-405)gCa>gTa p.A135V ESCA 7 138255646 138255646 + Silent SNP G G C TCGA-LN-A9FP-01A-31D-A387-09 TCGA-LN-A9FP-10A-01D-A38A-09 g.chr7:138255646G>C c.1776G>C c.(1774-1776)acG>acC p.T592T ESCA 7 138264148 138264148 + Missense_Mutation SNP G G A TCGA-LN-A4MQ-01A-11D-A28B-09 TCGA-LN-A4MQ-10A-01D-A28E-09 g.chr7:138264148G>A c.2456G>A c.(2455-2457)aGg>aAg p.R819K ESCA 7 138268703 138268703 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 g.chr7:138268703G>T c.2902G>T c.(2902-2904)Gat>Tat p.D968Y GBMLGG 7 138223421 138223421 + Missense_Mutation SNP G G A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 g.chr7:138223421G>A c.1016G>A c.(1015-1017)cGc>cAc p.R339H GBMLGG 7 138252324 138252324 + Silent SNP C C T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 g.chr7:138252324C>T c.1629C>T c.(1627-1629)aaC>aaT p.N543N GBMLGG 7 138261187 138261187 + Missense_Mutation SNP G G A TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 g.chr7:138261187G>A c.2084G>A c.(2083-2085)gGa>gAa p.G695E GBMLGG 7 138263957 138263957 + Silent SNP T T C TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 g.chr7:138263957T>C c.2265T>C c.(2263-2265)taT>taC p.Y755Y GBMLGG 7 138268733 138268733 + Missense_Mutation SNP G G A TCGA-HT-7688-01A-11D-2253-08 TCGA-HT-7688-10A-01D-2253-08 g.chr7:138268733G>A c.2932G>A c.(2932-2934)Gaa>Aaa p.E978K HNSC 7 138210029 138210029 + Missense_Mutation SNP A A G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 g.chr7:138210029A>G c.808A>G c.(808-810)Ata>Gta p.I270V HNSC 7 138235861 138235861 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr7:138235861G>A c.1197G>A c.(1195-1197)gtG>gtA p.V399V HNSC 7 138239468 138239468 + Missense_Mutation SNP G G T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 g.chr7:138239468G>T c.1287G>T c.(1285-1287)gaG>gaT p.E429D HNSC 7 138239469 138239469 + Missense_Mutation SNP A A T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 g.chr7:138239469A>T c.1288A>T c.(1288-1290)Agc>Tgc p.S430C HNSC 7 138252382 138252382 + Missense_Mutation SNP C C A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 g.chr7:138252382C>A c.1687C>A c.(1687-1689)Caa>Aaa p.Q563K HNSC 7 138261116 138261116 + Splice_Site SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 g.chr7:138261116A>T c.e13-1 HNSC 7 138265313 138265313 + Silent SNP G G A TCGA-CQ-7072-01A-21D-A30E-08 TCGA-CQ-7072-10A-01D-A30H-08 g.chr7:138265313G>A c.2592G>A c.(2590-2592)gaG>gaA p.E864E HNSC 7 138269520 138269521 + Frame_Shift_Ins INS - - T TCGA-CV-A6JZ-01A-11D-A31L-08 TCGA-CV-A6JZ-10A-01D-A31J-08 g.chr7:138269520_138269521insT c.2977_2978insT c.(2977-2979)cttfs p.L993fs HNSC 7 138269634 138269634 + Missense_Mutation SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 g.chr7:138269634G>A c.3091G>A c.(3091-3093)Gac>Aac p.D1031N KIPAN 7 138145434 138145434 + Silent SNP G G A TCGA-DW-7837-01A-11D-2136-08 TCGA-DW-7837-10A-01D-2136-08 g.chr7:138145434G>A c.141G>A c.(139-141)gcG>gcA p.A47A KIPAN 7 138265317 138265317 + Missense_Mutation SNP A A C TCGA-B0-4710-01A-01D-1501-10 TCGA-B0-4710-11A-02D-1501-10 g.chr7:138265317A>C c.2596A>C c.(2596-2598)Att>Ctt p.I866L KIPAN 7 138268636 138268636 + Missense_Mutation SNP G G C TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 g.chr7:138268636G>C c.2835G>C c.(2833-2835)ttG>ttC p.L945F KIPAN 7 138269684 138269684 + Missense_Mutation SNP G G C TCGA-B8-5553-01A-01D-1534-10 TCGA-B8-5553-10A-01D-1535-10 g.chr7:138269684G>C c.3141G>C c.(3139-3141)caG>caC p.Q1047H KIRC 7 138265317 138265317 + Missense_Mutation SNP A A C TCGA-B0-4710-01A-01D-1501-10 TCGA-B0-4710-11A-02D-1501-10 g.chr7:138265317A>C c.2596A>C c.(2596-2598)Att>Ctt p.I866L KIRC 7 138268636 138268636 + Missense_Mutation SNP G G C TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 g.chr7:138268636G>C c.2835G>C c.(2833-2835)ttG>ttC p.L945F KIRC 7 138269684 138269684 + Missense_Mutation SNP G G C TCGA-B8-5553-01A-01D-1534-10 TCGA-B8-5553-10A-01D-1535-10 g.chr7:138269684G>C c.3141G>C c.(3139-3141)caG>caC p.Q1047H KIRP 7 138145434 138145434 + Silent SNP G G A TCGA-DW-7837-01A-11D-2136-08 TCGA-DW-7837-10A-01D-2136-08 g.chr7:138145434G>A c.141G>A c.(139-141)gcG>gcA p.A47A LAML 7 138266451 138266451 + Missense_Mutation SNP C C T TCGA-AB-2979-03A-01D-0739-09 TCGA-AB-2979-11A-01D-0739-09 g.chr7:138266451C>T c.2728C>T c.(2728-2730)Cgc>Tgc p.R910C LGG 7 138223421 138223421 + Missense_Mutation SNP G G A TCGA-TQ-A7RP-01A-21D-A34A-08 TCGA-TQ-A7RP-10A-01D-A34A-08 g.chr7:138223421G>A c.1016G>A c.(1015-1017)cGc>cAc p.R339H LGG 7 138252324 138252324 + Silent SNP C C T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 g.chr7:138252324C>T c.1629C>T c.(1627-1629)aaC>aaT p.N543N LGG 7 138261187 138261187 + Missense_Mutation SNP G G A TCGA-P5-A731-01A-11D-A32B-08 TCGA-P5-A731-10A-01D-A329-08 g.chr7:138261187G>A c.2084G>A c.(2083-2085)gGa>gAa p.G695E LGG 7 138263957 138263957 + Silent SNP T T C TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 g.chr7:138263957T>C c.2265T>C c.(2263-2265)taT>taC p.Y755Y LGG 7 138268733 138268733 + Missense_Mutation SNP G G A TCGA-HT-7688-01A-11D-2253-08 TCGA-HT-7688-10A-01D-2253-08 g.chr7:138268733G>A c.2932G>A c.(2932-2934)Gaa>Aaa p.E978K LIHC 7 138239638 138239638 + Missense_Mutation SNP G G A TCGA-CC-A3M9-01A-11D-A20W-10 TCGA-CC-A3M9-10A-01D-A20W-10 g.chr7:138239638G>A c.1457G>A c.(1456-1458)cGg>cAg p.R486Q LUAD 7 138189108 138189108 + Missense_Mutation SNP G G T TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 g.chr7:138189108G>T c.438G>T c.(436-438)aaG>aaT p.K146N LUAD 7 138189108 138189108 + Silent SNP G G A TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 g.chr7:138189108G>A c.438G>A c.(436-438)aaG>aaA p.K146K LUAD 7 138200011 138200011 + Missense_Mutation SNP G G T TCGA-50-5045-01A-01D-1625-08 TCGA-50-5045-10A-01D-1625-08 g.chr7:138200011G>T c.538G>T c.(538-540)Gtt>Ttt p.V180F LUAD 7 138223420 138223420 + Missense_Mutation SNP C C T TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr7:138223420C>T c.1015C>T c.(1015-1017)Cgc>Tgc p.R339C LUAD 7 138223465 138223465 + Missense_Mutation SNP A A G TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr7:138223465A>G c.1060A>G c.(1060-1062)Aaa>Gaa p.K354E LUAD 7 138239468 138239468 + Missense_Mutation SNP G G T TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr7:138239468G>T c.1287G>T c.(1285-1287)gaG>gaT p.E429D LUAD 7 138252366 138252366 + Silent SNP G G A TCGA-L9-A444-01A-21D-A24D-08 TCGA-L9-A444-10A-01D-A24F-08 g.chr7:138252366G>A c.1671G>A c.(1669-1671)caG>caA p.Q557Q LUAD 7 138264004 138264004 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 g.chr7:138264004C>G c.2312C>G c.(2311-2313)tCt>tGt p.S771C LUAD 7 138264108 138264108 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr7:138264108G>T c.2416G>T c.(2416-2418)Gat>Tat p.D806Y LUAD 7 138264217 138264217 + Missense_Mutation SNP A A G TCGA-55-A491-01A-11D-A24D-08 TCGA-55-A491-10A-01D-A24F-08 g.chr7:138264217A>G c.2525A>G c.(2524-2526)gAa>gGa p.E842G LUAD 7 138264263 138264263 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr7:138264263G>C c.2571G>C c.(2569-2571)ttG>ttC p.L857F LUSC 7 138252234 138252234 + Silent SNP T T A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 g.chr7:138252234T>A c.1539T>A c.(1537-1539)ccT>ccA p.P513P LUSC 7 138252398 138252398 + Splice_Site SNP A A C TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 g.chr7:138252398A>C c.1703A>C c.(1702-1704)cAg>cCg p.Q568P LUSC 7 138255744 138255744 + Missense_Mutation SNP C C T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 g.chr7:138255744C>T c.1874C>T c.(1873-1875)cCg>cTg p.P625L LUSC 7 138258362 138258362 + Silent SNP A A G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 g.chr7:138258362A>G c.1989A>G c.(1987-1989)tcA>tcG p.S663S LUSC 7 138265404 138265404 + Missense_Mutation SNP G G A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 g.chr7:138265404G>A c.2683G>A c.(2683-2685)Gaa>Aaa p.E895K OV 7 138261140 138261140 + Silent SNP A A C TCGA-29-2434-01A-01D-1526-09 TCGA-29-2434-10A-01D-1526-09 g.chr7:138261140A>C c.2037A>C c.(2035-2037)gtA>gtC p.V679V OV 7 138269549 138269549 + Missense_Mutation SNP G G C TCGA-13-1482-01A-01W-0549-09 TCGA-13-1482-10A-01W-0549-09 g.chr7:138269549G>C c.3006G>C c.(3004-3006)aaG>aaC p.K1002N PAAD 7 138239457 138239457 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:138239457G>A c.1276G>A c.(1276-1278)Gag>Aag p.E426K PAAD 7 138239586 138239586 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:138239586C>T c.1405C>T c.(1405-1407)Cgg>Tgg p.R469W PRAD 7 138145410 138145410 + Silent SNP G G A TCGA-EJ-7794-01A-11D-2114-08 TCGA-EJ-7794-10A-01D-2115-08 g.chr7:138145410G>A c.117G>A c.(115-117)ccG>ccA p.P39P READ 7 138200067 138200067 + Silent SNP A A G TCGA-AG-A016-01A-01W-A005-10 TCGA-AG-A016-10A-01W-A005-10 g.chr7:138200067A>G c.594A>G c.(592-594)aaA>aaG p.K198K READ 7 138235871 138235871 + Missense_Mutation SNP A A C TCGA-F5-6813-01A-11D-1826-10 TCGA-F5-6813-10A-01D-1826-10 g.chr7:138235871A>C c.1207A>C c.(1207-1209)Acc>Ccc p.T403P READ 7 138262232 138262232 + Missense_Mutation SNP C C T TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr7:138262232C>T c.2155C>T c.(2155-2157)Cca>Tca p.P719S READ 7 138262238 138262238 + Nonsense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:138262238C>T c.2161C>T c.(2161-2163)Cga>Tga p.R721* READ 7 138268672 138268672 + Silent SNP C C T TCGA-EI-6510-01A-11D-1733-10 TCGA-EI-6510-10A-01D-1733-10 g.chr7:138268672C>T c.2871C>T c.(2869-2871)tcC>tcT p.S957S SKCM 7 138189106 138189106 + Missense_Mutation SNP A A C TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr7:138189106A>C c.436A>C c.(436-438)Aag>Cag p.K146Q SKCM 7 138235855 138235855 + Silent SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr7:138235855C>T c.1191C>T c.(1189-1191)tcC>tcT p.S397S SKCM 7 138235915 138235915 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:138235915C>T c.1251C>T c.(1249-1251)atC>atT p.I417I SKCM 7 138239496 138239496 + Missense_Mutation SNP C C T TCGA-EE-A3AH-06A-11D-A196-08 TCGA-EE-A3AH-10A-01D-A198-08 g.chr7:138239496C>T c.1315C>T c.(1315-1317)Cct>Tct p.P439S SKCM 7 138239558 138239558 + Silent SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr7:138239558C>T c.1377C>T c.(1375-1377)ttC>ttT p.F459F SKCM 7 138239559 138239559 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr7:138239559C>T c.1378C>T c.(1378-1380)Cca>Tca p.P460S SKCM 7 138239559 138239559 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 g.chr7:138239559C>T c.1378C>T c.(1378-1380)Cca>Tca p.P460S SKCM 7 138239657 138239657 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr7:138239657T>C c.1476T>C c.(1474-1476)ggT>ggC p.G492G SKCM 7 138252230 138252230 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:138252230C>T c.1535C>T c.(1534-1536)cCg>cTg p.P512L SKCM 7 138255624 138255624 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr7:138255624C>T c.1754C>T c.(1753-1755)tCc>tTc p.S585F SKCM 7 138255744 138255744 + Missense_Mutation SNP C C T TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr7:138255744C>T c.1874C>T c.(1873-1875)cCg>cTg p.P625L SKCM 7 138262304 138262304 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr7:138262304G>A c.2227G>A c.(2227-2229)Gaa>Aaa p.E743K SKCM 7 138263977 138263977 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr7:138263977C>T c.2285C>T c.(2284-2286)tCc>tTc p.S762F SKCM 7 138268672 138268672 + Silent SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 g.chr7:138268672C>T c.2871C>T c.(2869-2871)tcC>tcT p.S957S SKCM 7 138269649 138269649 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr7:138269649C>T c.3106C>T c.(3106-3108)Cgg>Tgg p.R1036W

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 7 138199980 138199980 insertion of <=200bp - A exon_variant ALL-US 7 138199980 138199980 insertion of <=200bp - A frameshift_variant N169K? ALL-US 7 138223461 138223461 single base substitution C G exon_variant ALL-US 7 138223461 138223461 single base substitution C G synonymous_variant L352L 1056C>G AML-US 7 138266452 138266452 single base substitution G T missense_variant R876L 2627G>T AML-US 7 138266452 138266452 single base substitution G T missense_variant R910L 2729G>T BRCA-EU 7 138140891 138140891 single base substitution G A upstream_gene_variant BRCA-EU 7 138141973 138141973 single base substitution G A upstream_gene_variant BRCA-EU 7 138144903 138144903 single base substitution G T upstream_gene_variant BRCA-EU 7 138145395 138145395 single base substitution G C missense_variant E34D 102G>C BRCA-EU 7 138145395 138145395 single base substitution G C upstream_gene_variant BRCA-EU 7 138145999 138145999 single base substitution C T exon_variant BRCA-EU 7 138145999 138145999 single base substitution C T intron_variant BRCA-EU 7 138147195 138147195 single base substitution C T intron_variant BRCA-EU 7 138147230 138147230 single base substitution C T intron_variant BRCA-EU 7 138148670 138148670 single base substitution G A intron_variant BRCA-EU 7 138149482 138149482 single base substitution T C intron_variant BRCA-EU 7 138149713 138149713 single base substitution A G intron_variant BRCA-EU 7 138149826 138149826 single base substitution G T intron_variant BRCA-EU 7 138150093 138150093 single base substitution G A intron_variant BRCA-EU 7 138150905 138150905 deletion of <=200bp T - intron_variant BRCA-EU 7 138151291 138151291 single base substitution C A intron_variant BRCA-EU 7 138152186 138152186 single base substitution A G intron_variant BRCA-EU 7 138152595 138152595 single base substitution C T intron_variant BRCA-EU 7 138153282 138153282 single base substitution G A intron_variant BRCA-EU 7 138153494 138153494 single base substitution G C intron_variant BRCA-EU 7 138156901 138156901 single base substitution A G intron_variant BRCA-EU 7 138156919 138156919 single base substitution T A intron_variant BRCA-EU 7 138157621 138157621 single base substitution T A intron_variant BRCA-EU 7 138159056 138159056 single base substitution G C intron_variant BRCA-EU 7 138159334 138159356 deletion of <=200bp AGGTTTACATTTAGGTCTATGAT - intron_variant BRCA-EU 7 138159853 138159853 insertion of <=200bp - T intron_variant BRCA-EU 7 138160797 138160797 deletion of <=200bp A - intron_variant BRCA-EU 7 138161019 138161019 single base substitution T C intron_variant BRCA-EU 7 138161603 138161603 single base substitution C T intron_variant BRCA-EU 7 138161915 138161915 single base substitution C T intron_variant BRCA-EU 7 138162045 138162048 deletion of <=200bp ACAA - intron_variant BRCA-EU 7 138162111 138162111 single base substitution G C intron_variant BRCA-EU 7 138162152 138162152 single base substitution G T intron_variant BRCA-EU 7 138162238 138162238 single base substitution C G intron_variant BRCA-EU 7 138164900 138164900 single base substitution G A intron_variant BRCA-EU 7 138164907 138164907 single base substitution C G intron_variant BRCA-EU 7 138165840 138165840 single base substitution C T intron_variant BRCA-EU 7 138165998 138165998 single base substitution G T intron_variant BRCA-EU 7 138166768 138166768 single base substitution C T intron_variant BRCA-EU 7 138167240 138167240 single base substitution G A intron_variant BRCA-EU 7 138167716 138167716 single base substitution G A intron_variant BRCA-EU 7 138167996 138167996 deletion of <=200bp T - intron_variant BRCA-EU 7 138168765 138168765 single base substitution A G intron_variant BRCA-EU 7 138168997 138168997 single base substitution G T intron_variant BRCA-EU 7 138169074 138169074 single base substitution G C intron_variant BRCA-EU 7 138169615 138169618 deletion of <=200bp TATC - intron_variant BRCA-EU 7 138170614 138170614 single base substitution T A intron_variant BRCA-EU 7 138171943 138171943 single base substitution G C intron_variant BRCA-EU 7 138172225 138172225 single base substitution T C intron_variant BRCA-EU 7 138172568 138172568 single base substitution C G intron_variant BRCA-EU 7 138172861 138172861 single base substitution C T intron_variant BRCA-EU 7 138173041 138173041 single base substitution A C intron_variant BRCA-EU 7 138173602 138173602 single base substitution C A intron_variant BRCA-EU 7 138173763 138173763 single base substitution G C intron_variant BRCA-EU 7 138173868 138173868 single base substitution G C intron_variant BRCA-EU 7 138174212 138174212 deletion of <=200bp T - intron_variant BRCA-EU 7 138174249 138174249 deletion of <=200bp T - intron_variant BRCA-EU 7 138174386 138174386 single base substitution G A intron_variant BRCA-EU 7 138174805 138174805 insertion of <=200bp - T intron_variant BRCA-EU 7 138176626 138176626 single base substitution A G intron_variant BRCA-EU 7 138178706 138178708 deletion of <=200bp TTG - intron_variant BRCA-EU 7 138178788 138178788 single base substitution G C intron_variant BRCA-EU 7 138178845 138178845 single base substitution G C intron_variant BRCA-EU 7 138179283 138179283 single base substitution A T intron_variant BRCA-EU 7 138179585 138179585 single base substitution G T intron_variant BRCA-EU 7 138180725 138180725 single base substitution C G intron_variant BRCA-EU 7 138183826 138183826 deletion of <=200bp T - intron_variant BRCA-EU 7 138185688 138185688 single base substitution C T intron_variant BRCA-EU 7 138185989 138185989 insertion of <=200bp - T intron_variant BRCA-EU 7 138187306 138187306 insertion of <=200bp - CATGT intron_variant BRCA-EU 7 138187806 138187806 single base substitution A G intron_variant BRCA-EU 7 138188206 138188206 single base substitution A G intron_variant BRCA-EU 7 138188252 138188252 single base substitution G A intron_variant BRCA-EU 7 138188403 138188403 single base substitution G T intron_variant BRCA-EU 7 138189127 138189127 single base substitution A T exon_variant BRCA-EU 7 138189127 138189127 single base substitution A T missense_variant S153C 457A>T BRCA-EU 7 138190168 138190168 single base substitution G T intron_variant BRCA-EU 7 138190420 138190426 deletion of <=200bp TACAGCT - intron_variant BRCA-EU 7 138192190 138192190 single base substitution C T intron_variant BRCA-EU 7 138193056 138193056 single base substitution G C intron_variant BRCA-EU 7 138193649 138193649 single base substitution G C intron_variant BRCA-EU 7 138194748 138194748 single base substitution G C intron_variant BRCA-EU 7 138194748 138194748 single base substitution G C upstream_gene_variant BRCA-EU 7 138195148 138195148 deletion of <=200bp T - intron_variant BRCA-EU 7 138195148 138195148 deletion of <=200bp T - upstream_gene_variant BRCA-EU 7 138195363 138195363 single base substitution C T intron_variant BRCA-EU 7 138195363 138195363 single base substitution C T upstream_gene_variant BRCA-EU 7 138195441 138195441 single base substitution A G intron_variant BRCA-EU 7 138195441 138195441 single base substitution A G upstream_gene_variant BRCA-EU 7 138196988 138196988 single base substitution T C intron_variant BRCA-EU 7 138196988 138196988 single base substitution T C upstream_gene_variant BRCA-EU 7 138197791 138197807 deletion of <=200bp AGTTCCACAGATCCCTA - intron_variant BRCA-EU 7 138197791 138197807 deletion of <=200bp AGTTCCACAGATCCCTA - upstream_gene_variant BRCA-EU 7 138198357 138198357 insertion of <=200bp - A intron_variant BRCA-EU 7 138198357 138198357 insertion of <=200bp - A upstream_gene_variant BRCA-EU 7 138199502 138199502 single base substitution A T exon_variant BRCA-EU 7 138199502 138199502 single base substitution A T intron_variant BRCA-EU 7 138200891 138200891 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 138200891 138200891 deletion of <=200bp A - intron_variant BRCA-EU 7 138200954 138200954 single base substitution G T downstream_gene_variant BRCA-EU 7 138200954 138200954 single base substitution G T intron_variant BRCA-EU 7 138201343 138201343 single base substitution G A downstream_gene_variant BRCA-EU 7 138201343 138201343 single base substitution G A intron_variant BRCA-EU 7 138202128 138202128 insertion of <=200bp - T downstream_gene_variant BRCA-EU 7 138202128 138202128 insertion of <=200bp - T intron_variant BRCA-EU 7 138202339 138202339 single base substitution G A downstream_gene_variant BRCA-EU 7 138202339 138202339 single base substitution G A intron_variant BRCA-EU 7 138202672 138202672 single base substitution G C downstream_gene_variant BRCA-EU 7 138202672 138202672 single base substitution G C intron_variant BRCA-EU 7 138202849 138202849 single base substitution A G downstream_gene_variant BRCA-EU 7 138202849 138202849 single base substitution A G intron_variant BRCA-EU 7 138203704 138203704 single base substitution T C downstream_gene_variant BRCA-EU 7 138203704 138203704 single base substitution T C intron_variant BRCA-EU 7 138203738 138203738 single base substitution A G downstream_gene_variant BRCA-EU 7 138203738 138203738 single base substitution A G intron_variant BRCA-EU 7 138204110 138204110 single base substitution T C downstream_gene_variant BRCA-EU 7 138204110 138204110 single base substitution T C intron_variant BRCA-EU 7 138205164 138205164 single base substitution C T intron_variant BRCA-EU 7 138206274 138206274 insertion of <=200bp - A intron_variant BRCA-EU 7 138206807 138206807 single base substitution G A intron_variant BRCA-EU 7 138207465 138207465 single base substitution A G intron_variant BRCA-EU 7 138208028 138208028 single base substitution G A intron_variant BRCA-EU 7 138208483 138208483 single base substitution G A intron_variant BRCA-EU 7 138210895 138210895 single base substitution G A downstream_gene_variant BRCA-EU 7 138210895 138210895 single base substitution G A intron_variant BRCA-EU 7 138211207 138211207 single base substitution G C downstream_gene_variant BRCA-EU 7 138211207 138211207 single base substitution G C intron_variant BRCA-EU 7 138211212 138211212 single base substitution G A downstream_gene_variant BRCA-EU 7 138211212 138211212 single base substitution G A intron_variant BRCA-EU 7 138211238 138211238 single base substitution G C downstream_gene_variant BRCA-EU 7 138211238 138211238 single base substitution G C intron_variant BRCA-EU 7 138211641 138211641 single base substitution A C downstream_gene_variant BRCA-EU 7 138211641 138211641 single base substitution A C intron_variant BRCA-EU 7 138211789 138211789 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 138211789 138211789 deletion of <=200bp T - intron_variant BRCA-EU 7 138211884 138211884 single base substitution A G downstream_gene_variant BRCA-EU 7 138211884 138211884 single base substitution A G intron_variant BRCA-EU 7 138213266 138213266 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 138213266 138213266 deletion of <=200bp T - intron_variant BRCA-EU 7 138214616 138214616 single base substitution T G downstream_gene_variant BRCA-EU 7 138214616 138214616 single base substitution T G intron_variant BRCA-EU 7 138216368 138216368 single base substitution G T intron_variant BRCA-EU 7 138218636 138218636 single base substitution G A intron_variant BRCA-EU 7 138220008 138220011 deletion of <=200bp GTTA - intron_variant BRCA-EU 7 138220516 138220516 single base substitution A G intron_variant BRCA-EU 7 138220779 138220779 single base substitution A G intron_variant BRCA-EU 7 138223098 138223098 single base substitution G C intron_variant BRCA-EU 7 138223746 138223746 deletion of <=200bp T - intron_variant BRCA-EU 7 138224766 138224766 single base substitution C T intron_variant BRCA-EU 7 138224792 138224792 single base substitution G A intron_variant BRCA-EU 7 138225023 138225023 single base substitution G A intron_variant BRCA-EU 7 138226040 138226040 deletion of <=200bp A - intron_variant BRCA-EU 7 138226438 138226438 single base substitution G C intron_variant BRCA-EU 7 138227791 138227791 single base substitution T G intron_variant BRCA-EU 7 138228548 138228548 insertion of <=200bp - T intron_variant BRCA-EU 7 138229407 138229407 single base substitution C G intron_variant BRCA-EU 7 138229562 138229562 single base substitution G T intron_variant BRCA-EU 7 138231245 138231245 single base substitution G T intron_variant BRCA-EU 7 138233045 138233045 single base substitution G A intron_variant BRCA-EU 7 138234041 138234041 single base substitution G T intron_variant BRCA-EU 7 138234413 138234413 single base substitution G A intron_variant BRCA-EU 7 138235956 138235956 single base substitution G C intron_variant BRCA-EU 7 138235956 138235956 single base substitution G C upstream_gene_variant BRCA-EU 7 138236884 138236884 single base substitution G A intron_variant BRCA-EU 7 138236884 138236884 single base substitution G A upstream_gene_variant BRCA-EU 7 138239580 138239580 single base substitution C T exon_variant BRCA-EU 7 138239580 138239580 single base substitution C T stop_gained Q467* 1399C>T BRCA-EU 7 138239597 138239597 single base substitution T C exon_variant BRCA-EU 7 138239597 138239597 single base substitution T C synonymous_variant H472H 1416T>C BRCA-EU 7 138243557 138243557 single base substitution A C intron_variant BRCA-EU 7 138244711 138244711 single base substitution C T intron_variant BRCA-EU 7 138245336 138245336 single base substitution C G intron_variant BRCA-EU 7 138246805 138246805 single base substitution G A intron_variant BRCA-EU 7 138247192 138247192 single base substitution A G intron_variant BRCA-EU 7 138247325 138247325 single base substitution T C intron_variant BRCA-EU 7 138248135 138248135 single base substitution C T intron_variant BRCA-EU 7 138251143 138251143 single base substitution T A intron_variant BRCA-EU 7 138251194 138251194 single base substitution G C intron_variant BRCA-EU 7 138254145 138254145 single base substitution G C intron_variant BRCA-EU 7 138255508 138255508 single base substitution G A intron_variant BRCA-EU 7 138255565 138255565 single base substitution G A intron_variant BRCA-EU 7 138256160 138256160 single base substitution A G downstream_gene_variant BRCA-EU 7 138256160 138256160 single base substitution A G intron_variant BRCA-EU 7 138257378 138257378 single base substitution G T downstream_gene_variant BRCA-EU 7 138257378 138257378 single base substitution G T intron_variant BRCA-EU 7 138257574 138257574 single base substitution G T downstream_gene_variant BRCA-EU 7 138257574 138257574 single base substitution G T intron_variant BRCA-EU 7 138259108 138259108 single base substitution G A downstream_gene_variant BRCA-EU 7 138259108 138259108 single base substitution G A intron_variant BRCA-EU 7 138259378 138259378 single base substitution A G downstream_gene_variant BRCA-EU 7 138259378 138259378 single base substitution A G intron_variant BRCA-EU 7 138260369 138260369 insertion of <=200bp - T downstream_gene_variant BRCA-EU 7 138260369 138260369 insertion of <=200bp - T intron_variant BRCA-EU 7 138261262 138261262 single base substitution T C downstream_gene_variant BRCA-EU 7 138261262 138261262 single base substitution T C intron_variant BRCA-EU 7 138262411 138262411 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 138262411 138262411 deletion of <=200bp T - intron_variant BRCA-EU 7 138263141 138263141 single base substitution C G downstream_gene_variant BRCA-EU 7 138263141 138263141 single base substitution C G intron_variant BRCA-EU 7 138263640 138263640 single base substitution A G intron_variant BRCA-EU 7 138263907 138263907 deletion of <=200bp T - intron_variant BRCA-EU 7 138264835 138264835 single base substitution A G intron_variant BRCA-EU 7 138265809 138265809 insertion of <=200bp - T intron_variant BRCA-EU 7 138270924 138270924 insertion of <=200bp - ATAG 3_prime_UTR_variant BRCA-EU 7 138270924 138270924 insertion of <=200bp - ATAG downstream_gene_variant BRCA-EU 7 138271383 138271383 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 138271383 138271383 single base substitution G A downstream_gene_variant BRCA-EU 7 138271531 138271531 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 138271531 138271531 single base substitution G A downstream_gene_variant BRCA-EU 7 138271651 138271651 single base substitution T G 3_prime_UTR_variant BRCA-EU 7 138271651 138271651 single base substitution T G downstream_gene_variant BRCA-EU 7 138272809 138272809 single base substitution A G 3_prime_UTR_variant BRCA-EU 7 138272809 138272809 single base substitution A G downstream_gene_variant BRCA-EU 7 138273721 138273721 single base substitution C G 3_prime_UTR_variant BRCA-EU 7 138273721 138273721 single base substitution C G downstream_gene_variant BRCA-EU 7 138275593 138275593 single base substitution G C downstream_gene_variant BRCA-EU 7 138276315 138276315 single base substitution G C downstream_gene_variant BRCA-EU 7 138277408 138277408 single base substitution C T downstream_gene_variant BRCA-EU 7 138279285 138279285 single base substitution A T downstream_gene_variant BRCA-FR 7 138144903 138144903 single base substitution G T upstream_gene_variant BRCA-FR 7 138151291 138151291 single base substitution C A intron_variant BRCA-FR 7 138168382 138168382 single base substitution G A intron_variant BRCA-FR 7 138171943 138171943 single base substitution G C intron_variant BRCA-FR 7 138172568 138172568 single base substitution C G intron_variant BRCA-FR 7 138195363 138195363 single base substitution C T intron_variant BRCA-FR 7 138195363 138195363 single base substitution C T upstream_gene_variant BRCA-FR 7 138207465 138207465 single base substitution A G intron_variant BRCA-FR 7 138208028 138208028 single base substitution G A intron_variant BRCA-FR 7 138233045 138233045 single base substitution G A intron_variant BRCA-FR 7 138234041 138234041 single base substitution G T intron_variant BRCA-FR 7 138254145 138254145 single base substitution G C intron_variant BRCA-FR 7 138263141 138263141 single base substitution C G downstream_gene_variant BRCA-FR 7 138263141 138263141 single base substitution C G intron_variant BRCA-FR 7 138276315 138276315 single base substitution G C downstream_gene_variant BRCA-UK 7 138140891 138140891 single base substitution G A upstream_gene_variant BRCA-UK 7 138145999 138145999 single base substitution C T exon_variant BRCA-UK 7 138145999 138145999 single base substitution C T intron_variant BRCA-UK 7 138176795 138176795 single base substitution G C intron_variant BRCA-UK 7 138177087 138177087 single base substitution G C intron_variant BRCA-UK 7 138206088 138206088 single base substitution G A intron_variant BRCA-UK 7 138220779 138220779 single base substitution A G intron_variant BRCA-UK 7 138255508 138255508 single base substitution G A intron_variant BRCA-UK 7 138265328 138265328 single base substitution C G missense_variant F835L 2505C>G BRCA-UK 7 138265328 138265328 single base substitution C G missense_variant F869L 2607C>G BRCA-UK 7 138268882 138268882 single base substitution G C intron_variant BRCA-US 7 138189074 138189074 single base substitution C G exon_variant BRCA-US 7 138189074 138189074 single base substitution C G missense_variant A135G 404C>G BRCA-US 7 138203954 138203954 single base substitution C T downstream_gene_variant BRCA-US 7 138203954 138203954 single base substitution C T exon_variant BRCA-US 7 138203954 138203954 single base substitution C T stop_gained Q218* 652C>T BRCA-US 7 138210015 138210015 single base substitution A T exon_variant BRCA-US 7 138210015 138210015 single base substitution A T missense_variant N265I 794A>T BRCA-US 7 138210052 138210052 single base substitution G A exon_variant BRCA-US 7 138210052 138210052 single base substitution G A synonymous_variant L277L 831G>A BRCA-US 7 138252293 138252293 single base substitution C A exon_variant BRCA-US 7 138252293 138252293 single base substitution C A missense_variant P499H 1496C>A BRCA-US 7 138252293 138252293 single base substitution C A missense_variant P533H 1598C>A BRCA-US 7 138269544 138269544 single base substitution C G missense_variant L1001V 3001C>G BRCA-US 7 138269544 138269544 single base substitution C G missense_variant L967V 2899C>G BRCA-US 7 138269670 138269670 single base substitution A G missense_variant I1009V 3025A>G BRCA-US 7 138269670 138269670 single base substitution A G missense_variant I1043V 3127A>G BRCA-US 7 138279228 138279228 single base substitution A T downstream_gene_variant BTCA-JP 7 138189190 138189190 single base substitution C T intron_variant BTCA-JP 7 138258368 138258368 single base substitution G A downstream_gene_variant BTCA-JP 7 138258368 138258368 single base substitution G A exon_variant BTCA-JP 7 138258368 138258368 single base substitution G A synonymous_variant V631V 1893G>A BTCA-JP 7 138258368 138258368 single base substitution G A synonymous_variant V665V 1995G>A BTCA-JP 7 138264229 138264229 single base substitution A G missense_variant K812R 2435A>G BTCA-JP 7 138264229 138264229 single base substitution A G missense_variant K846R 2537A>G BTCA-JP 7 138279228 138279228 deletion of <=200bp A - downstream_gene_variant BTCA-JP 7 138279228 138279229 deletion of <=200bp AA - downstream_gene_variant CESC-US 7 138252327 138252327 single base substitution G C exon_variant CESC-US 7 138252327 138252327 single base substitution G C missense_variant Q510H 1530G>C CESC-US 7 138252327 138252327 single base substitution G C missense_variant Q544H 1632G>C CESC-US 7 138279227 138279227 insertion of <=200bp - A downstream_gene_variant CLLE-ES 7 138149285 138149285 single base substitution G A intron_variant CLLE-ES 7 138203964 138203964 single base substitution T C downstream_gene_variant CLLE-ES 7 138203964 138203964 single base substitution T C exon_variant CLLE-ES 7 138203964 138203964 single base substitution T C missense_variant V221A 662T>C CLLE-ES 7 138206437 138206437 single base substitution G A intron_variant CLLE-ES 7 138209009 138209009 single base substitution C T intron_variant CLLE-ES 7 138212922 138212922 single base substitution A C downstream_gene_variant CLLE-ES 7 138212922 138212922 single base substitution A C intron_variant CLLE-ES 7 138241730 138241730 single base substitution C T intron_variant CLLE-ES 7 138250639 138250639 single base substitution A G intron_variant CLLE-ES 7 138277701 138277701 single base substitution A C downstream_gene_variant CLLE-ES 7 138279531 138279531 single base substitution T A downstream_gene_variant COAD-US 7 138203943 138203943 single base substitution G T downstream_gene_variant COAD-US 7 138203943 138203943 single base substitution G T exon_variant COAD-US 7 138203943 138203943 single base substitution G T missense_variant G214V 641G>T COAD-US 7 138203957 138203957 single base substitution C T downstream_gene_variant COAD-US 7 138203957 138203957 single base substitution C T exon_variant COAD-US 7 138203957 138203957 single base substitution C T stop_gained R219* 655C>T COAD-US 7 138223420 138223420 single base substitution C T exon_variant COAD-US 7 138223420 138223420 single base substitution C T missense_variant R339C 1015C>T COAD-US 7 138239456 138239456 single base substitution C T exon_variant COAD-US 7 138239456 138239456 single base substitution C T synonymous_variant I425I 1275C>T COAD-US 7 138239456 138239456 single base substitution C T upstream_gene_variant COAD-US 7 138239520 138239520 single base substitution C T exon_variant COAD-US 7 138239520 138239520 single base substitution C T missense_variant P447S 1339C>T COAD-US 7 138262238 138262238 single base substitution C T downstream_gene_variant COAD-US 7 138262238 138262238 single base substitution C T stop_gained R687* 2059C>T COAD-US 7 138262238 138262238 single base substitution C T stop_gained R721* 2161C>T COAD-US 7 138265310 138265310 single base substitution A G synonymous_variant G829G 2487A>G COAD-US 7 138265310 138265310 single base substitution A G synonymous_variant G863G 2589A>G COAD-US 7 138279356 138279356 single base substitution C T downstream_gene_variant COCA-CN 7 138158845 138158845 single base substitution G A intron_variant COCA-CN 7 138174180 138174180 single base substitution C A intron_variant COCA-CN 7 138176346 138176346 single base substitution C T intron_variant COCA-CN 7 138187287 138187287 single base substitution T C intron_variant COCA-CN 7 138189190 138189190 single base substitution C T intron_variant COCA-CN 7 138189192 138189192 single base substitution C T intron_variant COCA-CN 7 138189201 138189201 single base substitution T G intron_variant COCA-CN 7 138189203 138189203 single base substitution T G intron_variant COCA-CN 7 138193441 138193441 single base substitution C T intron_variant COCA-CN 7 138193445 138193445 single base substitution C T intron_variant COCA-CN 7 138193479 138193479 single base substitution T C intron_variant COCA-CN 7 138193848 138193848 single base substitution C T intron_variant COCA-CN 7 138203842 138203842 single base substitution T C downstream_gene_variant COCA-CN 7 138203842 138203842 single base substitution T C intron_variant COCA-CN 7 138223421 138223421 single base substitution G A exon_variant COCA-CN 7 138223421 138223421 single base substitution G A missense_variant R339H 1016G>A COCA-CN 7 138235737 138235737 single base substitution T C intron_variant COCA-CN 7 138235737 138235737 single base substitution T C upstream_gene_variant COCA-CN 7 138250172 138250172 single base substitution C T intron_variant COCA-CN 7 138252462 138252462 single base substitution G T intron_variant COCA-CN 7 138252500 138252500 single base substitution A C intron_variant COCA-CN 7 138255405 138255405 single base substitution G T intron_variant COCA-CN 7 138255712 138255712 single base substitution A G downstream_gene_variant COCA-CN 7 138255712 138255712 single base substitution A G exon_variant COCA-CN 7 138255712 138255712 single base substitution A G synonymous_variant P580P 1740A>G COCA-CN 7 138255712 138255712 single base substitution A G synonymous_variant P614P 1842A>G COCA-CN 7 138255744 138255744 single base substitution C T downstream_gene_variant COCA-CN 7 138255744 138255744 single base substitution C T exon_variant COCA-CN 7 138255744 138255744 single base substitution C T missense_variant P591L 1772C>T COCA-CN 7 138255744 138255744 single base substitution C T missense_variant P625L 1874C>T COCA-CN 7 138258239 138258239 single base substitution C A downstream_gene_variant COCA-CN 7 138258239 138258239 single base substitution C A intron_variant COCA-CN 7 138261185 138261185 single base substitution A G downstream_gene_variant COCA-CN 7 138261185 138261185 single base substitution A G synonymous_variant R660R 1980A>G COCA-CN 7 138261185 138261185 single base substitution A G synonymous_variant R694R 2082A>G COCA-CN 7 138264319 138264319 single base substitution T G intron_variant COCA-CN 7 138266390 138266390 single base substitution G T intron_variant COCA-CN 7 138268536 138268536 single base substitution A G intron_variant COCA-CN 7 138269663 138269663 single base substitution C A synonymous_variant L1006L 3018C>A COCA-CN 7 138269663 138269663 single base substitution C A synonymous_variant L1040L 3120C>A COCA-CN 7 138269728 138269728 single base substitution A G 3_prime_UTR_variant COCA-CN 7 138270687 138270687 single base substitution G T 3_prime_UTR_variant COCA-CN 7 138270687 138270687 single base substitution G T downstream_gene_variant COCA-CN 7 138279413 138279413 single base substitution C T downstream_gene_variant EOPC-DE 7 138147559 138147559 single base substitution C T intron_variant EOPC-DE 7 138217316 138217316 single base substitution T G intron_variant EOPC-DE 7 138258491 138258491 single base substitution G C downstream_gene_variant EOPC-DE 7 138258491 138258491 single base substitution G C intron_variant EOPC-DE 7 138272622 138272622 single base substitution C T 3_prime_UTR_variant EOPC-DE 7 138272622 138272622 single base substitution C T downstream_gene_variant ESAD-UK 7 138140642 138140642 single base substitution G A upstream_gene_variant ESAD-UK 7 138141127 138141127 single base substitution G T upstream_gene_variant ESAD-UK 7 138141993 138141993 single base substitution G A upstream_gene_variant ESAD-UK 7 138144283 138144283 single base substitution C T upstream_gene_variant ESAD-UK 7 138152212 138152212 single base substitution G T intron_variant ESAD-UK 7 138154918 138154918 single base substitution C T intron_variant ESAD-UK 7 138156694 138156694 single base substitution T G intron_variant ESAD-UK 7 138157515 138157515 single base substitution A G intron_variant ESAD-UK 7 138157614 138157614 deletion of <=200bp A - intron_variant ESAD-UK 7 138159687 138159687 single base substitution G T intron_variant ESAD-UK 7 138163239 138163239 single base substitution T C intron_variant ESAD-UK 7 138166861 138166861 deletion of <=200bp T - intron_variant ESAD-UK 7 138167504 138167504 deletion of <=200bp T - intron_variant ESAD-UK 7 138169673 138169673 single base substitution G A intron_variant ESAD-UK 7 138170581 138170581 single base substitution A T intron_variant ESAD-UK 7 138170688 138170688 single base substitution T C intron_variant ESAD-UK 7 138170935 138170935 single base substitution G A intron_variant ESAD-UK 7 138173372 138173372 single base substitution G A intron_variant ESAD-UK 7 138175118 138175118 single base substitution T A intron_variant ESAD-UK 7 138179574 138179574 single base substitution T G intron_variant ESAD-UK 7 138181298 138181298 single base substitution G C intron_variant ESAD-UK 7 138181567 138181567 single base substitution T C intron_variant ESAD-UK 7 138183086 138183086 single base substitution C T intron_variant ESAD-UK 7 138184693 138184693 single base substitution C T intron_variant ESAD-UK 7 138185096 138185096 single base substitution G A intron_variant ESAD-UK 7 138185622 138185622 single base substitution C A intron_variant ESAD-UK 7 138186730 138186730 deletion of <=200bp A - intron_variant ESAD-UK 7 138186730 138186730 insertion of <=200bp - A intron_variant ESAD-UK 7 138187285 138187285 single base substitution C A intron_variant ESAD-UK 7 138189572 138189572 single base substitution C T intron_variant ESAD-UK 7 138190251 138190251 single base substitution G T intron_variant ESAD-UK 7 138190253 138190253 insertion of <=200bp - T intron_variant ESAD-UK 7 138190607 138190607 single base substitution G T intron_variant ESAD-UK 7 138193166 138193166 single base substitution C T intron_variant ESAD-UK 7 138193430 138193430 insertion of <=200bp - GTGC intron_variant ESAD-UK 7 138194766 138194766 single base substitution G C intron_variant ESAD-UK 7 138194766 138194766 single base substitution G C upstream_gene_variant ESAD-UK 7 138197078 138197078 single base substitution A G intron_variant ESAD-UK 7 138197078 138197078 single base substitution A G upstream_gene_variant ESAD-UK 7 138197150 138197150 single base substitution C T intron_variant ESAD-UK 7 138197150 138197150 single base substitution C T upstream_gene_variant ESAD-UK 7 138197201 138197201 single base substitution G A intron_variant ESAD-UK 7 138197201 138197201 single base substitution G A upstream_gene_variant ESAD-UK 7 138201508 138201508 single base substitution A C downstream_gene_variant ESAD-UK 7 138201508 138201508 single base substitution A C intron_variant ESAD-UK 7 138205755 138205755 single base substitution C T intron_variant ESAD-UK 7 138210407 138210407 single base substitution T G downstream_gene_variant ESAD-UK 7 138210407 138210407 single base substitution T G intron_variant ESAD-UK 7 138211804 138211804 single base substitution C T downstream_gene_variant ESAD-UK 7 138211804 138211804 single base substitution C T intron_variant ESAD-UK 7 138213812 138213812 single base substitution A G downstream_gene_variant ESAD-UK 7 138213812 138213812 single base substitution A G intron_variant ESAD-UK 7 138214558 138214558 single base substitution T A downstream_gene_variant ESAD-UK 7 138214558 138214558 single base substitution T A intron_variant ESAD-UK 7 138215521 138215521 deletion of <=200bp T - intron_variant ESAD-UK 7 138218555 138218555 single base substitution C T intron_variant ESAD-UK 7 138218729 138218729 deletion of <=200bp T - intron_variant ESAD-UK 7 138221340 138221340 single base substitution A C intron_variant ESAD-UK 7 138221344 138221344 single base substitution G A intron_variant ESAD-UK 7 138221869 138221869 single base substitution T G intron_variant ESAD-UK 7 138226752 138226752 single base substitution G T intron_variant ESAD-UK 7 138227722 138227722 deletion of <=200bp T - intron_variant ESAD-UK 7 138231088 138231088 single base substitution C T intron_variant ESAD-UK 7 138231315 138231315 single base substitution C T intron_variant ESAD-UK 7 138232080 138232080 single base substitution C G intron_variant ESAD-UK 7 138233096 138233096 single base substitution G A intron_variant ESAD-UK 7 138233415 138233415 single base substitution C G intron_variant ESAD-UK 7 138236314 138236314 single base substitution A C intron_variant ESAD-UK 7 138236314 138236314 single base substitution A C upstream_gene_variant ESAD-UK 7 138238955 138238955 single base substitution C A intron_variant ESAD-UK 7 138238955 138238955 single base substitution C A upstream_gene_variant ESAD-UK 7 138238967 138238967 single base substitution T C intron_variant ESAD-UK 7 138238967 138238967 single base substitution T C upstream_gene_variant ESAD-UK 7 138241477 138241477 single base substitution G A intron_variant ESAD-UK 7 138245241 138245241 single base substitution C T intron_variant ESAD-UK 7 138248350 138248350 single base substitution G A intron_variant ESAD-UK 7 138249845 138249845 single base substitution T C intron_variant ESAD-UK 7 138252069 138252069 single base substitution G T intron_variant ESAD-UK 7 138252102 138252103 deletion of <=200bp TC - intron_variant ESAD-UK 7 138253215 138253215 single base substitution T G intron_variant ESAD-UK 7 138253386 138253386 single base substitution C T intron_variant ESAD-UK 7 138253935 138253935 single base substitution A C intron_variant ESAD-UK 7 138257275 138257275 single base substitution G A downstream_gene_variant ESAD-UK 7 138257275 138257275 single base substitution G A intron_variant ESAD-UK 7 138259744 138259744 single base substitution A G downstream_gene_variant ESAD-UK 7 138259744 138259744 single base substitution A G intron_variant ESAD-UK 7 138262700 138262700 single base substitution A G downstream_gene_variant ESAD-UK 7 138262700 138262700 single base substitution A G intron_variant ESAD-UK 7 138264351 138264351 single base substitution A G intron_variant ESAD-UK 7 138265053 138265053 deletion of <=200bp T - intron_variant ESAD-UK 7 138265172 138265172 single base substitution T C intron_variant ESAD-UK 7 138266257 138266257 single base substitution T G intron_variant ESAD-UK 7 138267383 138267383 single base substitution G A intron_variant ESAD-UK 7 138268331 138268331 single base substitution C G intron_variant ESAD-UK 7 138272520 138272520 single base substitution G T 3_prime_UTR_variant ESAD-UK 7 138272520 138272520 single base substitution G T downstream_gene_variant ESAD-UK 7 138272522 138272522 single base substitution G A 3_prime_UTR_variant ESAD-UK 7 138272522 138272522 single base substitution G A downstream_gene_variant ESAD-UK 7 138273964 138273964 single base substitution G A 3_prime_UTR_variant ESAD-UK 7 138273964 138273964 single base substitution G A downstream_gene_variant ESAD-UK 7 138275788 138275788 single base substitution G C downstream_gene_variant ESAD-UK 7 138276005 138276008 deletion of <=200bp ACAA - downstream_gene_variant ESAD-UK 7 138276693 138276693 single base substitution A T downstream_gene_variant ESAD-UK 7 138279229 138279229 single base substitution A T downstream_gene_variant ESCA-CN 7 138261190 138261190 single base substitution G A downstream_gene_variant ESCA-CN 7 138261190 138261190 single base substitution G A missense_variant S662N 1985G>A ESCA-CN 7 138261190 138261190 single base substitution G A missense_variant S696N 2087G>A ESCA-CN 7 138264170 138264170 single base substitution G A synonymous_variant E792E 2376G>A ESCA-CN 7 138264170 138264170 single base substitution G A synonymous_variant E826E 2478G>A GBM-US 7 138235836 138235836 single base substitution G A exon_variant GBM-US 7 138235836 138235836 single base substitution G A missense_variant R391H 1172G>A GBM-US 7 138235836 138235836 single base substitution G A upstream_gene_variant KIRC-US 7 138265317 138265317 single base substitution A C missense_variant I832L 2494A>C KIRC-US 7 138265317 138265317 single base substitution A C missense_variant I866L 2596A>C KIRC-US 7 138269684 138269684 single base substitution G C missense_variant Q1013H 3039G>C KIRC-US 7 138269684 138269684 single base substitution G C missense_variant Q1047H 3141G>C KIRP-US 7 138145434 138145434 single base substitution G A synonymous_variant A47A 141G>A KIRP-US 7 138145434 138145434 single base substitution G A upstream_gene_variant LAML-KR 7 138145569 138145569 single base substitution C A synonymous_variant P92P 276C>A LAML-KR 7 138145569 138145569 single base substitution C A upstream_gene_variant LAML-KR 7 138189497 138189497 single base substitution A G intron_variant LAML-KR 7 138223622 138223622 single base substitution A G intron_variant LAML-KR 7 138267276 138267276 single base substitution G A intron_variant LAML-KR 7 138267281 138267281 single base substitution C T intron_variant LAML-KR 7 138270838 138270838 single base substitution T C 3_prime_UTR_variant LAML-KR 7 138270838 138270838 single base substitution T C downstream_gene_variant LGG-US 7 138268733 138268733 single base substitution G A missense_variant E944K 2830G>A LGG-US 7 138268733 138268733 single base substitution G A missense_variant E978K 2932G>A LICA-CN 7 138189038 138189038 single base substitution G A exon_variant LICA-CN 7 138189038 138189038 single base substitution G A missense_variant G123E 368G>A LICA-CN 7 138252231 138252231 single base substitution G A exon_variant LICA-CN 7 138252231 138252231 single base substitution G A synonymous_variant P478P 1434G>A LICA-CN 7 138252231 138252231 single base substitution G A synonymous_variant P512P 1536G>A LICA-CN 7 138258347 138258347 single base substitution C G downstream_gene_variant LICA-CN 7 138258347 138258347 single base substitution C G exon_variant LICA-CN 7 138258347 138258347 single base substitution C G synonymous_variant V624V 1872C>G LICA-CN 7 138258347 138258347 single base substitution C G synonymous_variant V658V 1974C>G LICA-CN 7 138266462 138266462 single base substitution A G synonymous_variant L879L 2637A>G LICA-CN 7 138266462 138266462 single base substitution A G synonymous_variant L913L 2739A>G LICA-CN 7 138268660 138268660 single base substitution A G synonymous_variant Q919Q 2757A>G LICA-CN 7 138268660 138268660 single base substitution A G synonymous_variant Q953Q 2859A>G LICA-FR 7 138141177 138141177 single base substitution G A upstream_gene_variant LICA-FR 7 138177251 138177251 single base substitution T A intron_variant LICA-FR 7 138207190 138207190 single base substitution A T intron_variant LICA-FR 7 138222752 138222752 single base substitution T G intron_variant LICA-FR 7 138222759 138222759 single base substitution A C intron_variant LIHC-US 7 138239638 138239638 single base substitution G A exon_variant LIHC-US 7 138239638 138239638 single base substitution G A intron_variant LIHC-US 7 138239638 138239638 single base substitution G A missense_variant R486Q 1457G>A LINC-JP 7 138141471 138141471 single base substitution G T upstream_gene_variant LINC-JP 7 138145191 138145191 single base substitution C T 5_prime_UTR_variant LINC-JP 7 138145191 138145191 single base substitution C T upstream_gene_variant LINC-JP 7 138145622 138145622 single base substitution C T missense_variant S110L 329C>T LINC-JP 7 138145622 138145622 single base substitution C T upstream_gene_variant LINC-JP 7 138150887 138150887 single base substitution T C intron_variant LINC-JP 7 138159153 138159153 single base substitution A T intron_variant LINC-JP 7 138169598 138169598 single base substitution C T intron_variant LINC-JP 7 138184428 138184428 single base substitution C A intron_variant LINC-JP 7 138188923 138188923 single base substitution G A intron_variant LINC-JP 7 138193034 138193034 single base substitution G T intron_variant LINC-JP 7 138196699 138196699 single base substitution C A intron_variant LINC-JP 7 138196699 138196699 single base substitution C A upstream_gene_variant LINC-JP 7 138199686 138199686 single base substitution C G intron_variant LINC-JP 7 138204149 138204149 single base substitution C T downstream_gene_variant LINC-JP 7 138204149 138204149 single base substitution C T intron_variant LINC-JP 7 138204219 138204219 single base substitution A G downstream_gene_variant LINC-JP 7 138204219 138204219 single base substitution A G intron_variant LINC-JP 7 138213491 138213491 single base substitution A G downstream_gene_variant LINC-JP 7 138213491 138213491 single base substitution A G intron_variant LINC-JP 7 138214013 138214013 single base substitution A G downstream_gene_variant LINC-JP 7 138214013 138214013 single base substitution A G intron_variant LINC-JP 7 138220483 138220483 single base substitution A T intron_variant LINC-JP 7 138222114 138222114 single base substitution A C intron_variant LINC-JP 7 138223682 138223682 single base substitution G A intron_variant LINC-JP 7 138231242 138231242 single base substitution C G intron_variant LINC-JP 7 138237949 138237949 single base substitution T C intron_variant LINC-JP 7 138237949 138237949 single base substitution T C upstream_gene_variant LINC-JP 7 138241730 138241730 single base substitution C T intron_variant LINC-JP 7 138242534 138242534 single base substitution G T intron_variant LINC-JP 7 138252429 138252429 single base substitution T C intron_variant LINC-JP 7 138255405 138255405 single base substitution G T intron_variant LINC-JP 7 138258250 138258250 single base substitution A T downstream_gene_variant LINC-JP 7 138258250 138258250 single base substitution A T splice_acceptor_variant LINC-JP 7 138258286 138258286 insertion of <=200bp - T downstream_gene_variant LINC-JP 7 138258286 138258286 insertion of <=200bp - T exon_variant LINC-JP 7 138258286 138258286 insertion of <=200bp - T frameshift_variant I604I? LINC-JP 7 138258286 138258286 insertion of <=200bp - T frameshift_variant I638I? LINC-JP 7 138258368 138258368 single base substitution G A downstream_gene_variant LINC-JP 7 138258368 138258368 single base substitution G A exon_variant LINC-JP 7 138258368 138258368 single base substitution G A synonymous_variant V631V 1893G>A LINC-JP 7 138258368 138258368 single base substitution G A synonymous_variant V665V 1995G>A LINC-JP 7 138262187 138262187 single base substitution G A downstream_gene_variant LINC-JP 7 138262187 138262187 single base substitution G A missense_variant A670T 2008G>A LINC-JP 7 138262187 138262187 single base substitution G A missense_variant A704T 2110G>A LINC-JP 7 138264273 138264273 single base substitution C G missense_variant P827A 2479C>G LINC-JP 7 138264273 138264273 single base substitution C G missense_variant P861A 2581C>G LINC-JP 7 138277236 138277236 single base substitution A G downstream_gene_variant LIRI-JP 7 138141223 138141223 single base substitution C G upstream_gene_variant LIRI-JP 7 138141401 138141401 single base substitution T C upstream_gene_variant LIRI-JP 7 138143904 138143904 single base substitution T C upstream_gene_variant LIRI-JP 7 138144558 138144558 single base substitution T C upstream_gene_variant LIRI-JP 7 138146510 138146510 single base substitution A G intron_variant LIRI-JP 7 138147603 138147603 single base substitution T C intron_variant LIRI-JP 7 138148140 138148140 single base substitution A G intron_variant LIRI-JP 7 138148248 138148248 single base substitution A G intron_variant LIRI-JP 7 138153810 138153810 single base substitution C T intron_variant LIRI-JP 7 138154000 138154000 single base substitution C T intron_variant LIRI-JP 7 138154611 138154611 single base substitution G A intron_variant LIRI-JP 7 138154949 138154949 single base substitution C T intron_variant LIRI-JP 7 138155614 138155614 single base substitution A C intron_variant LIRI-JP 7 138155701 138155701 single base substitution A G intron_variant LIRI-JP 7 138156619 138156619 single base substitution A G intron_variant LIRI-JP 7 138159340 138159340 single base substitution A G intron_variant LIRI-JP 7 138160774 138160774 single base substitution G T intron_variant LIRI-JP 7 138160967 138160967 single base substitution A G intron_variant LIRI-JP 7 138166240 138166240 single base substitution A G intron_variant LIRI-JP 7 138166912 138166912 single base substitution C G intron_variant LIRI-JP 7 138167139 138167139 single base substitution A G intron_variant LIRI-JP 7 138167559 138167559 single base substitution G A intron_variant LIRI-JP 7 138170153 138170153 single base substitution G T intron_variant LIRI-JP 7 138170367 138170367 single base substitution C T intron_variant LIRI-JP 7 138171940 138171940 single base substitution T C intron_variant LIRI-JP 7 138172015 138172015 single base substitution C T intron_variant LIRI-JP 7 138172016 138172016 single base substitution A G intron_variant LIRI-JP 7 138175560 138175560 single base substitution A G intron_variant LIRI-JP 7 138176270 138176270 single base substitution T C intron_variant LIRI-JP 7 138176534 138176534 single base substitution A G intron_variant LIRI-JP 7 138177335 138177335 single base substitution C G intron_variant LIRI-JP 7 138178596 138178596 single base substitution A G intron_variant LIRI-JP 7 138178723 138178723 single base substitution G A intron_variant LIRI-JP 7 138181989 138181989 single base substitution T G intron_variant LIRI-JP 7 138184876 138184876 single base substitution A G intron_variant LIRI-JP 7 138185102 138185102 single base substitution T G intron_variant LIRI-JP 7 138185840 138185840 single base substitution T G intron_variant LIRI-JP 7 138186048 138186048 single base substitution C T intron_variant LIRI-JP 7 138187125 138187125 single base substitution A C intron_variant LIRI-JP 7 138190252 138190252 insertion of <=200bp - GTT intron_variant LIRI-JP 7 138190582 138190582 single base substitution A G intron_variant LIRI-JP 7 138191186 138191186 single base substitution A G intron_variant LIRI-JP 7 138191813 138191813 single base substitution A C intron_variant LIRI-JP 7 138194381 138194381 single base substitution G A intron_variant LIRI-JP 7 138194381 138194381 single base substitution G A upstream_gene_variant LIRI-JP 7 138194941 138194941 single base substitution C A intron_variant LIRI-JP 7 138194941 138194941 single base substitution C A upstream_gene_variant LIRI-JP 7 138195023 138195023 single base substitution A G intron_variant LIRI-JP 7 138195023 138195023 single base substitution A G upstream_gene_variant LIRI-JP 7 138199045 138199045 single base substitution C G intron_variant LIRI-JP 7 138199045 138199045 single base substitution C G upstream_gene_variant LIRI-JP 7 138199619 138199619 single base substitution C T intron_variant LIRI-JP 7 138200385 138200416 deletion of <=200bp TATTTTTCTTTTATCTCTAAGATAACAACAAA - downstream_gene_variant LIRI-JP 7 138200385 138200416 deletion of <=200bp TATTTTTCTTTTATCTCTAAGATAACAACAAA - intron_variant LIRI-JP 7 138200871 138200871 single base substitution C T downstream_gene_variant LIRI-JP 7 138200871 138200871 single base substitution C T intron_variant LIRI-JP 7 138201172 138201172 single base substitution A T downstream_gene_variant LIRI-JP 7 138201172 138201172 single base substitution A T intron_variant LIRI-JP 7 138201808 138201808 single base substitution G A downstream_gene_variant LIRI-JP 7 138201808 138201808 single base substitution G A intron_variant LIRI-JP 7 138203334 138203334 single base substitution T C downstream_gene_variant LIRI-JP 7 138203334 138203334 single base substitution T C intron_variant LIRI-JP 7 138205853 138205853 single base substitution A T intron_variant LIRI-JP 7 138207370 138207370 single base substitution A T intron_variant LIRI-JP 7 138207717 138207717 single base substitution T G intron_variant LIRI-JP 7 138207814 138207814 single base substitution A G intron_variant LIRI-JP 7 138210345 138210345 single base substitution T C downstream_gene_variant LIRI-JP 7 138210345 138210345 single base substitution T C intron_variant LIRI-JP 7 138210614 138210614 single base substitution T G downstream_gene_variant LIRI-JP 7 138210614 138210614 single base substitution T G intron_variant LIRI-JP 7 138213459 138213459 single base substitution G A downstream_gene_variant LIRI-JP 7 138213459 138213459 single base substitution G A intron_variant LIRI-JP 7 138213522 138213522 deletion of <=200bp A - downstream_gene_variant LIRI-JP 7 138213522 138213522 deletion of <=200bp A - intron_variant LIRI-JP 7 138214000 138214000 single base substitution A G downstream_gene_variant LIRI-JP 7 138214000 138214000 single base substitution A G intron_variant LIRI-JP 7 138219442 138219442 single base substitution T C intron_variant LIRI-JP 7 138220463 138220463 single base substitution A G intron_variant LIRI-JP 7 138220934 138220934 single base substitution A C intron_variant LIRI-JP 7 138220938 138220938 single base substitution T C intron_variant LIRI-JP 7 138222626 138222626 single base substitution A G intron_variant LIRI-JP 7 138225008 138225008 single base substitution G A intron_variant LIRI-JP 7 138225699 138225699 single base substitution T A intron_variant LIRI-JP 7 138226442 138226442 single base substitution C T intron_variant LIRI-JP 7 138226717 138226717 single base substitution T C intron_variant LIRI-JP 7 138227025 138227025 single base substitution T G intron_variant LIRI-JP 7 138228016 138228016 single base substitution A T intron_variant LIRI-JP 7 138229900 138229900 deletion of <=200bp A - intron_variant LIRI-JP 7 138230289 138230289 single base substitution A G intron_variant LIRI-JP 7 138230982 138230982 single base substitution C A intron_variant LIRI-JP 7 138233011 138233011 single base substitution A T intron_variant LIRI-JP 7 138233135 138233135 single base substitution C T intron_variant LIRI-JP 7 138233874 138233874 single base substitution A T intron_variant LIRI-JP 7 138234359 138234359 single base substitution C T intron_variant LIRI-JP 7 138234398 138234398 single base substitution C G intron_variant LIRI-JP 7 138235472 138235472 single base substitution T G intron_variant LIRI-JP 7 138235472 138235472 single base substitution T G upstream_gene_variant LIRI-JP 7 138235714 138235714 single base substitution A G intron_variant LIRI-JP 7 138235714 138235714 single base substitution A G upstream_gene_variant LIRI-JP 7 138236734 138236734 single base substitution T C intron_variant LIRI-JP 7 138236734 138236734 single base substitution T C upstream_gene_variant LIRI-JP 7 138237019 138237019 single base substitution A G intron_variant LIRI-JP 7 138237019 138237019 single base substitution A G upstream_gene_variant LIRI-JP 7 138237039 138237039 single base substitution A C intron_variant LIRI-JP 7 138237039 138237039 single base substitution A C upstream_gene_variant LIRI-JP 7 138239858 138239858 single base substitution C T intron_variant LIRI-JP 7 138240017 138240017 single base substitution T G intron_variant LIRI-JP 7 138240062 138240062 single base substitution T C intron_variant LIRI-JP 7 138240650 138240650 single base substitution C A intron_variant LIRI-JP 7 138240651 138240651 single base substitution A T intron_variant LIRI-JP 7 138241314 138241314 single base substitution G A intron_variant LIRI-JP 7 138241315 138241315 single base substitution A T intron_variant LIRI-JP 7 138241522 138241522 single base substitution C G intron_variant LIRI-JP 7 138242397 138242397 single base substitution A G intron_variant LIRI-JP 7 138242602 138242602 single base substitution A G intron_variant LIRI-JP 7 138244503 138244503 single base substitution A C intron_variant LIRI-JP 7 138244804 138244804 single base substitution C T intron_variant LIRI-JP 7 138245479 138245479 single base substitution A G intron_variant LIRI-JP 7 138246483 138246483 single base substitution T C intron_variant LIRI-JP 7 138247310 138247310 single base substitution G A intron_variant LIRI-JP 7 138247408 138247408 single base substitution A C intron_variant LIRI-JP 7 138248423 138248423 single base substitution C T intron_variant LIRI-JP 7 138249274 138249274 single base substitution T C intron_variant LIRI-JP 7 138249283 138249283 single base substitution T C intron_variant LIRI-JP 7 138249370 138249370 single base substitution A T intron_variant LIRI-JP 7 138251376 138251376 single base substitution G A intron_variant LIRI-JP 7 138253516 138253516 single base substitution C T intron_variant LIRI-JP 7 138253555 138253555 single base substitution A G intron_variant LIRI-JP 7 138254766 138254766 single base substitution C T intron_variant LIRI-JP 7 138254891 138254891 single base substitution C T intron_variant LIRI-JP 7 138255872 138255872 single base substitution C T downstream_gene_variant LIRI-JP 7 138255872 138255872 single base substitution C T intron_variant LIRI-JP 7 138257317 138257317 single base substitution C A downstream_gene_variant LIRI-JP 7 138257317 138257317 single base substitution C A intron_variant LIRI-JP 7 138257453 138257453 single base substitution A C downstream_gene_variant LIRI-JP 7 138257453 138257453 single base substitution A C intron_variant LIRI-JP 7 138258651 138258651 single base substitution C G downstream_gene_variant LIRI-JP 7 138258651 138258651 single base substitution C G intron_variant LIRI-JP 7 138259084 138259084 single base substitution A G downstream_gene_variant LIRI-JP 7 138259084 138259084 single base substitution A G intron_variant LIRI-JP 7 138260315 138260315 single base substitution A G downstream_gene_variant LIRI-JP 7 138260315 138260315 single base substitution A G intron_variant LIRI-JP 7 138261289 138261289 single base substitution A G downstream_gene_variant LIRI-JP 7 138261289 138261289 single base substitution A G intron_variant LIRI-JP 7 138261533 138261533 single base substitution T G downstream_gene_variant LIRI-JP 7 138261533 138261533 single base substitution T G intron_variant LIRI-JP 7 138262649 138262649 single base substitution A G downstream_gene_variant LIRI-JP 7 138262649 138262649 single base substitution A G intron_variant LIRI-JP 7 138265697 138265697 single base substitution C G intron_variant LIRI-JP 7 138268526 138268526 single base substitution C T intron_variant LIRI-JP 7 138269040 138269040 single base substitution T C intron_variant LIRI-JP 7 138270095 138270095 single base substitution G A 3_prime_UTR_variant LIRI-JP 7 138272123 138272123 single base substitution T G 3_prime_UTR_variant LIRI-JP 7 138272123 138272123 single base substitution T G downstream_gene_variant LIRI-JP 7 138272684 138272684 single base substitution A G 3_prime_UTR_variant LIRI-JP 7 138272684 138272684 single base substitution A G downstream_gene_variant LIRI-JP 7 138272710 138272710 single base substitution A T 3_prime_UTR_variant LIRI-JP 7 138272710 138272710 single base substitution A T downstream_gene_variant LIRI-JP 7 138273882 138273882 deletion of <=200bp A - 3_prime_UTR_variant LIRI-JP 7 138273882 138273882 deletion of <=200bp A - downstream_gene_variant LIRI-JP 7 138275334 138275334 single base substitution A C downstream_gene_variant LIRI-JP 7 138275610 138275610 single base substitution A C downstream_gene_variant LIRI-JP 7 138275613 138275613 single base substitution T C downstream_gene_variant LIRI-JP 7 138277556 138277556 single base substitution G A downstream_gene_variant LIRI-JP 7 138277766 138277766 single base substitution G T downstream_gene_variant LIRI-JP 7 138278066 138278066 single base substitution A G downstream_gene_variant LIRI-JP 7 138278697 138278697 single base substitution A G downstream_gene_variant LIRI-JP 7 138279212 138279212 single base substitution T G downstream_gene_variant LIRI-JP 7 138279716 138279716 single base substitution G T downstream_gene_variant LUSC-KR 7 138140436 138140436 single base substitution C G upstream_gene_variant LUSC-KR 7 138141584 138141584 single base substitution G C upstream_gene_variant LUSC-KR 7 138141617 138141617 single base substitution C T upstream_gene_variant LUSC-KR 7 138142937 138142937 single base substitution T G upstream_gene_variant LUSC-KR 7 138151227 138151227 single base substitution G T intron_variant LUSC-KR 7 138156767 138156767 single base substitution G T intron_variant LUSC-KR 7 138170136 138170136 single base substitution A T intron_variant LUSC-KR 7 138170611 138170611 single base substitution C T intron_variant LUSC-KR 7 138173613 138173613 single base substitution T A intron_variant LUSC-KR 7 138173664 138173664 single base substitution C T intron_variant LUSC-KR 7 138173683 138173683 single base substitution G C intron_variant LUSC-KR 7 138174475 138174475 single base substitution G T intron_variant LUSC-KR 7 138178202 138178202 single base substitution G T intron_variant LUSC-KR 7 138181429 138181429 single base substitution A G intron_variant LUSC-KR 7 138181818 138181818 single base substitution G T intron_variant LUSC-KR 7 138191336 138191336 single base substitution A G intron_variant LUSC-KR 7 138193322 138193322 single base substitution C G intron_variant LUSC-KR 7 138193375 138193375 single base substitution C G intron_variant LUSC-KR 7 138193427 138193427 single base substitution T C intron_variant LUSC-KR 7 138193447 138193447 single base substitution T C intron_variant LUSC-KR 7 138198193 138198193 single base substitution C T intron_variant LUSC-KR 7 138198193 138198193 single base substitution C T upstream_gene_variant LUSC-KR 7 138201104 138201104 single base substitution C G downstream_gene_variant LUSC-KR 7 138201104 138201104 single base substitution C G intron_variant LUSC-KR 7 138202589 138202589 single base substitution T C downstream_gene_variant LUSC-KR 7 138202589 138202589 single base substitution T C intron_variant LUSC-KR 7 138206946 138206946 single base substitution T G intron_variant LUSC-KR 7 138211732 138211732 single base substitution G A downstream_gene_variant LUSC-KR 7 138211732 138211732 single base substitution G A intron_variant LUSC-KR 7 138213435 138213435 single base substitution C T downstream_gene_variant LUSC-KR 7 138213435 138213435 single base substitution C T intron_variant LUSC-KR 7 138216431 138216431 single base substitution A T intron_variant LUSC-KR 7 138221906 138221906 single base substitution C T intron_variant LUSC-KR 7 138227706 138227706 single base substitution T C intron_variant LUSC-KR 7 138233966 138233966 single base substitution G T intron_variant LUSC-KR 7 138236704 138236704 single base substitution G C intron_variant LUSC-KR 7 138236704 138236704 single base substitution G C upstream_gene_variant LUSC-KR 7 138239662 138239662 single base substitution C G exon_variant LUSC-KR 7 138239662 138239662 single base substitution C G intron_variant LUSC-KR 7 138239662 138239662 single base substitution C G missense_variant P494R 1481C>G LUSC-KR 7 138239923 138239923 single base substitution C T intron_variant LUSC-KR 7 138250545 138250545 single base substitution G T intron_variant LUSC-KR 7 138252885 138252885 single base substitution A G intron_variant LUSC-KR 7 138258745 138258745 single base substitution G T downstream_gene_variant LUSC-KR 7 138258745 138258745 single base substitution G T intron_variant LUSC-US 7 138252234 138252234 single base substitution T A exon_variant LUSC-US 7 138252234 138252234 single base substitution T A synonymous_variant P479P 1437T>A LUSC-US 7 138252234 138252234 single base substitution T A synonymous_variant P513P 1539T>A LUSC-US 7 138252398 138252398 single base substitution A C missense_variant Q534P 1601A>C LUSC-US 7 138252398 138252398 single base substitution A C missense_variant Q568P 1703A>C LUSC-US 7 138252398 138252398 single base substitution A C splice_region_variant LUSC-US 7 138255744 138255744 single base substitution C T downstream_gene_variant LUSC-US 7 138255744 138255744 single base substitution C T exon_variant LUSC-US 7 138255744 138255744 single base substitution C T missense_variant P591L 1772C>T LUSC-US 7 138255744 138255744 single base substitution C T missense_variant P625L 1874C>T LUSC-US 7 138258362 138258362 single base substitution A G downstream_gene_variant LUSC-US 7 138258362 138258362 single base substitution A G exon_variant LUSC-US 7 138258362 138258362 single base substitution A G synonymous_variant S629S 1887A>G LUSC-US 7 138258362 138258362 single base substitution A G synonymous_variant S663S 1989A>G LUSC-US 7 138265404 138265404 single base substitution G A missense_variant E861K 2581G>A LUSC-US 7 138265404 138265404 single base substitution G A missense_variant E895K 2683G>A MALY-DE 7 138143090 138143090 single base substitution A G upstream_gene_variant MALY-DE 7 138145217 138145219 deletion of <=200bp AGG - 5_prime_UTR_variant MALY-DE 7 138145217 138145219 deletion of <=200bp AGG - upstream_gene_variant MALY-DE 7 138156217 138156217 insertion of <=200bp - T intron_variant MALY-DE 7 138162034 138162034 single base substitution C T intron_variant MALY-DE 7 138175964 138175964 single base substitution G T intron_variant MALY-DE 7 138177064 138177064 single base substitution A T intron_variant MALY-DE 7 138186668 138186668 single base substitution C T intron_variant MALY-DE 7 138190660 138190660 single base substitution G A intron_variant MALY-DE 7 138192700 138192700 single base substitution T A intron_variant MALY-DE 7 138199502 138199502 single base substitution A G exon_variant MALY-DE 7 138199502 138199502 single base substitution A G intron_variant MALY-DE 7 138211002 138211002 deletion of <=200bp T - downstream_gene_variant MALY-DE 7 138211002 138211002 deletion of <=200bp T - intron_variant MALY-DE 7 138220778 138220778 single base substitution C T intron_variant MALY-DE 7 138222236 138222236 single base substitution T A intron_variant MALY-DE 7 138226696 138226696 single base substitution T A intron_variant MALY-DE 7 138227960 138227960 single base substitution G A intron_variant MALY-DE 7 138228146 138228146 single base substitution T G intron_variant MALY-DE 7 138228842 138228842 single base substitution A C intron_variant MALY-DE 7 138229909 138229910 deletion of <=200bp GT - intron_variant MALY-DE 7 138230466 138230466 single base substitution A C intron_variant MALY-DE 7 138231842 138231842 single base substitution G A intron_variant MALY-DE 7 138232127 138232127 single base substitution A G intron_variant MALY-DE 7 138232593 138232593 single base substitution G A intron_variant MALY-DE 7 138244590 138244590 single base substitution G A intron_variant MALY-DE 7 138259817 138259817 single base substitution T C downstream_gene_variant MALY-DE 7 138259817 138259817 single base substitution T C intron_variant MALY-DE 7 138261386 138261386 single base substitution G C downstream_gene_variant MALY-DE 7 138261386 138261386 single base substitution G C intron_variant MALY-DE 7 138262411 138262411 insertion of <=200bp - T downstream_gene_variant MALY-DE 7 138262411 138262411 insertion of <=200bp - T intron_variant MALY-DE 7 138263666 138263666 insertion of <=200bp - TA intron_variant MALY-DE 7 138263666 138263667 deletion of <=200bp TA - intron_variant MALY-DE 7 138274661 138274661 single base substitution G A 3_prime_UTR_variant MALY-DE 7 138274661 138274661 single base substitution G A downstream_gene_variant MALY-DE 7 138278610 138278610 single base substitution T C downstream_gene_variant MELA-AU 7 138140127 138140127 single base substitution G A upstream_gene_variant MELA-AU 7 138140128 138140128 single base substitution G A upstream_gene_variant MELA-AU 7 138140129 138140129 single base substitution G A upstream_gene_variant MELA-AU 7 138140453 138140454 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 138140781 138140781 single base substitution T C upstream_gene_variant MELA-AU 7 138140852 138140852 single base substitution A G upstream_gene_variant MELA-AU 7 138141111 138141111 single base substitution C T upstream_gene_variant MELA-AU 7 138141310 138141310 single base substitution G A upstream_gene_variant MELA-AU 7 138141387 138141387 single base substitution G C upstream_gene_variant MELA-AU 7 138141424 138141424 single base substitution C T upstream_gene_variant MELA-AU 7 138141461 138141461 single base substitution G A upstream_gene_variant MELA-AU 7 138141552 138141552 single base substitution G A upstream_gene_variant MELA-AU 7 138141562 138141562 single base substitution C T upstream_gene_variant MELA-AU 7 138141730 138141730 single base substitution C T upstream_gene_variant MELA-AU 7 138141834 138141834 single base substitution G A upstream_gene_variant MELA-AU 7 138141841 138141841 single base substitution G A upstream_gene_variant MELA-AU 7 138141852 138141852 single base substitution C T upstream_gene_variant MELA-AU 7 138141940 138141940 single base substitution C T upstream_gene_variant MELA-AU 7 138141958 138141958 single base substitution C T upstream_gene_variant MELA-AU 7 138142060 138142060 single base substitution G A upstream_gene_variant MELA-AU 7 138142069 138142069 single base substitution G A upstream_gene_variant MELA-AU 7 138142104 138142105 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 138142269 138142269 single base substitution G A upstream_gene_variant MELA-AU 7 138142309 138142309 single base substitution G A upstream_gene_variant MELA-AU 7 138142527 138142527 single base substitution G A upstream_gene_variant MELA-AU 7 138142619 138142645 deletion of <=200bp AGGTGGTGGTAGTGGTGCAGTTAAGAA - upstream_gene_variant MELA-AU 7 138143049 138143049 single base substitution T G upstream_gene_variant MELA-AU 7 138143108 138143108 single base substitution C T upstream_gene_variant MELA-AU 7 138143123 138143123 single base substitution T A upstream_gene_variant MELA-AU 7 138143134 138143134 single base substitution T A upstream_gene_variant MELA-AU 7 138143304 138143304 deletion of <=200bp A - upstream_gene_variant MELA-AU 7 138143568 138143568 single base substitution G A upstream_gene_variant MELA-AU 7 138143863 138143863 single base substitution C T upstream_gene_variant MELA-AU 7 138144759 138144759 single base substitution G A upstream_gene_variant MELA-AU 7 138144767 138144767 single base substitution G A upstream_gene_variant MELA-AU 7 138144773 138144774 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 138144777 138144777 single base substitution G A upstream_gene_variant MELA-AU 7 138144785 138144785 single base substitution G A upstream_gene_variant MELA-AU 7 138144788 138144788 single base substitution G A upstream_gene_variant MELA-AU 7 138144789 138144789 single base substitution G A upstream_gene_variant MELA-AU 7 138144807 138144807 single base substitution C T upstream_gene_variant MELA-AU 7 138144811 138144811 single base substitution A G upstream_gene_variant MELA-AU 7 138144860 138144860 single base substitution C T upstream_gene_variant MELA-AU 7 138144926 138144926 single base substitution G A upstream_gene_variant MELA-AU 7 138144939 138144939 single base substitution G A upstream_gene_variant MELA-AU 7 138144940 138144940 single base substitution G A upstream_gene_variant MELA-AU 7 138145092 138145092 single base substitution C T 5_prime_UTR_variant MELA-AU 7 138145092 138145092 single base substitution C T upstream_gene_variant MELA-AU 7 138145352 138145353 multiple base substitution (>=2bp and <=200bp) CC AT missense_variant S20Y 59CC>AT MELA-AU 7 138145352 138145353 multiple base substitution (>=2bp and <=200bp) CC AT upstream_gene_variant MELA-AU 7 138146557 138146557 single base substitution A G intron_variant MELA-AU 7 138146698 138146698 single base substitution C T intron_variant MELA-AU 7 138147421 138147421 single base substitution G T intron_variant MELA-AU 7 138147599 138147599 single base substitution G A intron_variant MELA-AU 7 138147621 138147621 single base substitution A T intron_variant MELA-AU 7 138147973 138147973 single base substitution C T intron_variant MELA-AU 7 138148942 138148942 single base substitution C T intron_variant MELA-AU 7 138150195 138150195 single base substitution T C intron_variant MELA-AU 7 138151259 138151259 single base substitution G A intron_variant MELA-AU 7 138151443 138151443 single base substitution C G intron_variant MELA-AU 7 138151681 138151681 single base substitution A G intron_variant MELA-AU 7 138151717 138151717 single base substitution G T intron_variant MELA-AU 7 138152176 138152176 single base substitution T C intron_variant MELA-AU 7 138152564 138152564 single base substitution C T intron_variant MELA-AU 7 138153584 138153584 single base substitution C T intron_variant MELA-AU 7 138153586 138153586 single base substitution C T intron_variant MELA-AU 7 138154164 138154164 single base substitution C T intron_variant MELA-AU 7 138155306 138155306 single base substitution C T intron_variant MELA-AU 7 138156281 138156281 single base substitution T C intron_variant MELA-AU 7 138156593 138156593 single base substitution A G intron_variant MELA-AU 7 138157061 138157062 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 7 138157548 138157548 single base substitution C T intron_variant MELA-AU 7 138157734 138157734 single base substitution C T intron_variant MELA-AU 7 138157881 138157881 single base substitution C T intron_variant MELA-AU 7 138157979 138157979 single base substitution C T intron_variant MELA-AU 7 138159038 138159038 single base substitution T G intron_variant MELA-AU 7 138159495 138159495 single base substitution C T intron_variant MELA-AU 7 138159549 138159549 single base substitution T A intron_variant MELA-AU 7 138160409 138160409 single base substitution C T intron_variant MELA-AU 7 138161135 138161135 single base substitution C T intron_variant MELA-AU 7 138161362 138161362 single base substitution C T intron_variant MELA-AU 7 138161512 138161512 single base substitution C T intron_variant MELA-AU 7 138161548 138161548 single base substitution A G intron_variant MELA-AU 7 138161761 138161761 single base substitution C T intron_variant MELA-AU 7 138162923 138162923 single base substitution G A intron_variant MELA-AU 7 138163210 138163210 single base substitution C T intron_variant MELA-AU 7 138163310 138163310 single base substitution C T intron_variant MELA-AU 7 138163571 138163571 single base substitution T C intron_variant MELA-AU 7 138163661 138163661 single base substitution C T intron_variant MELA-AU 7 138163663 138163663 single base substitution C T intron_variant MELA-AU 7 138163835 138163835 single base substitution C T intron_variant MELA-AU 7 138165236 138165236 single base substitution C T intron_variant MELA-AU 7 138165599 138165599 single base substitution C T intron_variant MELA-AU 7 138165993 138165993 single base substitution C T intron_variant MELA-AU 7 138166229 138166229 single base substitution G A intron_variant MELA-AU 7 138166260 138166260 single base substitution C T intron_variant MELA-AU 7 138166408 138166408 single base substitution G A intron_variant MELA-AU 7 138167012 138167012 single base substitution G A intron_variant MELA-AU 7 138167024 138167024 single base substitution C T intron_variant MELA-AU 7 138167221 138167221 single base substitution T C intron_variant MELA-AU 7 138167693 138167693 single base substitution C T intron_variant MELA-AU 7 138167835 138167835 single base substitution C T intron_variant MELA-AU 7 138168222 138168222 single base substitution G A intron_variant MELA-AU 7 138169466 138169466 single base substitution G T intron_variant MELA-AU 7 138169476 138169476 single base substitution C T intron_variant MELA-AU 7 138169785 138169785 single base substitution C T intron_variant MELA-AU 7 138170383 138170384 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 7 138171017 138171017 single base substitution C T intron_variant MELA-AU 7 138171520 138171520 single base substitution C G intron_variant MELA-AU 7 138172135 138172135 single base substitution T G intron_variant MELA-AU 7 138172206 138172206 single base substitution G A intron_variant MELA-AU 7 138172241 138172241 single base substitution C T intron_variant MELA-AU 7 138172801 138172801 single base substitution C T intron_variant MELA-AU 7 138173831 138173831 single base substitution C T intron_variant MELA-AU 7 138174022 138174022 single base substitution C T intron_variant MELA-AU 7 138174535 138174535 single base substitution C T intron_variant MELA-AU 7 138174612 138174612 single base substitution C T intron_variant MELA-AU 7 138174653 138174653 single base substitution G A intron_variant MELA-AU 7 138174775 138174775 single base substitution C T intron_variant MELA-AU 7 138174964 138174964 single base substitution C T intron_variant MELA-AU 7 138175054 138175054 single base substitution C T intron_variant MELA-AU 7 138175056 138175056 single base substitution C A intron_variant MELA-AU 7 138175209 138175209 single base substitution C T intron_variant MELA-AU 7 138175239 138175239 single base substitution C T intron_variant MELA-AU 7 138176211 138176211 single base substitution C T intron_variant MELA-AU 7 138177051 138177051 single base substitution A T intron_variant MELA-AU 7 138177638 138177638 single base substitution C T intron_variant MELA-AU 7 138178388 138178388 single base substitution C T intron_variant MELA-AU 7 138179545 138179545 single base substitution C T intron_variant MELA-AU 7 138179898 138179898 single base substitution G A intron_variant MELA-AU 7 138180760 138180760 single base substitution C T intron_variant MELA-AU 7 138181234 138181234 single base substitution C T intron_variant MELA-AU 7 138181402 138181402 single base substitution C T intron_variant MELA-AU 7 138181403 138181403 single base substitution C T intron_variant MELA-AU 7 138181568 138181568 single base substitution C T intron_variant MELA-AU 7 138181728 138181728 single base substitution C T intron_variant MELA-AU 7 138182038 138182038 single base substitution C T intron_variant MELA-AU 7 138182057 138182058 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 138182988 138182988 single base substitution G A intron_variant MELA-AU 7 138183093 138183094 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 138184405 138184405 single base substitution C T intron_variant MELA-AU 7 138184760 138184760 single base substitution C T intron_variant MELA-AU 7 138185071 138185071 single base substitution G A intron_variant MELA-AU 7 138186172 138186172 single base substitution C T intron_variant MELA-AU 7 138186562 138186562 single base substitution G A intron_variant MELA-AU 7 138186601 138186602 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 138186627 138186627 single base substitution C T intron_variant MELA-AU 7 138186667 138186668 multiple base substitution (>=2bp and <=200bp) CC GA intron_variant MELA-AU 7 138187691 138187691 single base substitution C T intron_variant MELA-AU 7 138187905 138187905 single base substitution A T intron_variant MELA-AU 7 138188131 138188131 single base substitution C T intron_variant MELA-AU 7 138188480 138188480 single base substitution C T intron_variant MELA-AU 7 138188562 138188562 single base substitution C T intron_variant MELA-AU 7 138188647 138188647 single base substitution C T intron_variant MELA-AU 7 138188844 138188844 single base substitution C T intron_variant MELA-AU 7 138188980 138188980 single base substitution T C intron_variant MELA-AU 7 138189046 138189046 single base substitution C T exon_variant MELA-AU 7 138189046 138189046 single base substitution C T missense_variant R126C 376C>T MELA-AU 7 138189302 138189302 single base substitution G T intron_variant MELA-AU 7 138189310 138189310 single base substitution C T intron_variant MELA-AU 7 138189463 138189463 single base substitution C T intron_variant MELA-AU 7 138189757 138189757 single base substitution C T intron_variant MELA-AU 7 138189876 138189876 single base substitution A T intron_variant MELA-AU 7 138190106 138190106 single base substitution C T intron_variant MELA-AU 7 138190845 138190845 single base substitution C T intron_variant MELA-AU 7 138192260 138192260 single base substitution G A intron_variant MELA-AU 7 138192756 138192756 single base substitution G T intron_variant MELA-AU 7 138192758 138192758 single base substitution A G intron_variant MELA-AU 7 138192788 138192788 single base substitution T C intron_variant MELA-AU 7 138192848 138192848 single base substitution T C intron_variant MELA-AU 7 138192911 138192911 single base substitution G T intron_variant MELA-AU 7 138193451 138193451 single base substitution T C intron_variant MELA-AU 7 138193467 138193467 single base substitution T C intron_variant MELA-AU 7 138193571 138193571 single base substitution C T intron_variant MELA-AU 7 138194596 138194596 single base substitution G A intron_variant MELA-AU 7 138194596 138194596 single base substitution G A upstream_gene_variant MELA-AU 7 138194657 138194657 single base substitution G A intron_variant MELA-AU 7 138194657 138194657 single base substitution G A upstream_gene_variant MELA-AU 7 138195509 138195509 single base substitution C T intron_variant MELA-AU 7 138195509 138195509 single base substitution C T upstream_gene_variant MELA-AU 7 138195656 138195656 single base substitution C T intron_variant MELA-AU 7 138195656 138195656 single base substitution C T upstream_gene_variant MELA-AU 7 138196076 138196076 single base substitution T C intron_variant MELA-AU 7 138196076 138196076 single base substitution T C upstream_gene_variant MELA-AU 7 138196334 138196334 single base substitution C T intron_variant MELA-AU 7 138196334 138196334 single base substitution C T upstream_gene_variant MELA-AU 7 138196407 138196407 single base substitution C T intron_variant MELA-AU 7 138196407 138196407 single base substitution C T upstream_gene_variant MELA-AU 7 138196541 138196541 single base substitution C T intron_variant MELA-AU 7 138196541 138196541 single base substitution C T upstream_gene_variant MELA-AU 7 138196961 138196961 single base substitution C T intron_variant MELA-AU 7 138196961 138196961 single base substitution C T upstream_gene_variant MELA-AU 7 138197180 138197180 single base substitution C T intron_variant MELA-AU 7 138197180 138197180 single base substitution C T upstream_gene_variant MELA-AU 7 138197280 138197280 single base substitution T C intron_variant MELA-AU 7 138197280 138197280 single base substitution T C upstream_gene_variant MELA-AU 7 138197803 138197803 single base substitution C T intron_variant MELA-AU 7 138197803 138197803 single base substitution C T upstream_gene_variant MELA-AU 7 138198063 138198063 single base substitution C T intron_variant MELA-AU 7 138198063 138198063 single base substitution C T upstream_gene_variant MELA-AU 7 138198098 138198098 single base substitution C T intron_variant MELA-AU 7 138198098 138198098 single base substitution C T upstream_gene_variant MELA-AU 7 138198692 138198692 single base substitution C T intron_variant MELA-AU 7 138198692 138198692 single base substitution C T upstream_gene_variant MELA-AU 7 138199051 138199051 single base substitution T A intron_variant MELA-AU 7 138199051 138199051 single base substitution T A upstream_gene_variant MELA-AU 7 138200145 138200145 single base substitution C T downstream_gene_variant MELA-AU 7 138200145 138200145 single base substitution C T intron_variant MELA-AU 7 138200392 138200392 single base substitution C T downstream_gene_variant MELA-AU 7 138200392 138200392 single base substitution C T intron_variant MELA-AU 7 138200436 138200436 single base substitution A T downstream_gene_variant MELA-AU 7 138200436 138200436 single base substitution A T intron_variant MELA-AU 7 138200533 138200533 single base substitution C T downstream_gene_variant MELA-AU 7 138200533 138200533 single base substitution C T intron_variant MELA-AU 7 138200638 138200638 insertion of <=200bp - T downstream_gene_variant MELA-AU 7 138200638 138200638 insertion of <=200bp - T intron_variant MELA-AU 7 138200753 138200753 single base substitution C T downstream_gene_variant MELA-AU 7 138200753 138200753 single base substitution C T intron_variant MELA-AU 7 138200840 138200840 single base substitution C T downstream_gene_variant MELA-AU 7 138200840 138200840 single base substitution C T intron_variant MELA-AU 7 138201001 138201001 single base substitution C T downstream_gene_variant MELA-AU 7 138201001 138201001 single base substitution C T intron_variant MELA-AU 7 138201234 138201234 single base substitution G T downstream_gene_variant MELA-AU 7 138201234 138201234 single base substitution G T intron_variant MELA-AU 7 138201303 138201303 single base substitution T A downstream_gene_variant MELA-AU 7 138201303 138201303 single base substitution T A intron_variant MELA-AU 7 138201827 138201827 single base substitution G A downstream_gene_variant MELA-AU 7 138201827 138201827 single base substitution G A intron_variant MELA-AU 7 138202407 138202407 single base substitution C T downstream_gene_variant MELA-AU 7 138202407 138202407 single base substitution C T intron_variant MELA-AU 7 138203397 138203397 single base substitution C T downstream_gene_variant MELA-AU 7 138203397 138203397 single base substitution C T intron_variant MELA-AU 7 138203577 138203577 single base substitution C T downstream_gene_variant MELA-AU 7 138203577 138203577 single base substitution C T intron_variant MELA-AU 7 138204083 138204083 single base substitution T A downstream_gene_variant MELA-AU 7 138204083 138204083 single base substitution T A intron_variant MELA-AU 7 138204494 138204494 single base substitution A T downstream_gene_variant MELA-AU 7 138204494 138204494 single base substitution A T intron_variant MELA-AU 7 138204874 138204874 single base substitution C T downstream_gene_variant MELA-AU 7 138204874 138204874 single base substitution C T intron_variant MELA-AU 7 138205106 138205106 single base substitution C T intron_variant MELA-AU 7 138205138 138205138 single base substitution C T intron_variant MELA-AU 7 138205182 138205182 single base substitution C T intron_variant MELA-AU 7 138205702 138205702 single base substitution C A intron_variant MELA-AU 7 138206000 138206000 single base substitution G A intron_variant MELA-AU 7 138206550 138206550 single base substitution C T intron_variant MELA-AU 7 138206913 138206913 single base substitution C T intron_variant MELA-AU 7 138206933 138206933 single base substitution G A intron_variant MELA-AU 7 138207053 138207053 single base substitution C T intron_variant MELA-AU 7 138208217 138208217 single base substitution T A intron_variant MELA-AU 7 138209376 138209376 single base substitution C T intron_variant MELA-AU 7 138209579 138209580 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 138209581 138209581 single base substitution C T intron_variant MELA-AU 7 138210802 138210802 single base substitution C T downstream_gene_variant MELA-AU 7 138210802 138210802 single base substitution C T intron_variant MELA-AU 7 138211022 138211022 single base substitution C T downstream_gene_variant MELA-AU 7 138211022 138211022 single base substitution C T intron_variant MELA-AU 7 138211470 138211470 single base substitution C T downstream_gene_variant MELA-AU 7 138211470 138211470 single base substitution C T intron_variant MELA-AU 7 138211727 138211727 single base substitution C T downstream_gene_variant MELA-AU 7 138211727 138211727 single base substitution C T intron_variant MELA-AU 7 138212218 138212218 single base substitution C T downstream_gene_variant MELA-AU 7 138212218 138212218 single base substitution C T intron_variant MELA-AU 7 138212631 138212631 single base substitution C T downstream_gene_variant MELA-AU 7 138212631 138212631 single base substitution C T intron_variant MELA-AU 7 138213038 138213039 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 138213038 138213039 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 138213060 138213060 single base substitution G A downstream_gene_variant MELA-AU 7 138213060 138213060 single base substitution G A intron_variant MELA-AU 7 138213265 138213265 single base substitution C T downstream_gene_variant MELA-AU 7 138213265 138213265 single base substitution C T intron_variant MELA-AU 7 138213530 138213530 single base substitution C T downstream_gene_variant MELA-AU 7 138213530 138213530 single base substitution C T intron_variant MELA-AU 7 138213672 138213672 single base substitution G A downstream_gene_variant MELA-AU 7 138213672 138213672 single base substitution G A intron_variant MELA-AU 7 138214228 138214228 single base substitution T G downstream_gene_variant MELA-AU 7 138214228 138214228 single base substitution T G intron_variant MELA-AU 7 138214444 138214444 single base substitution G A downstream_gene_variant MELA-AU 7 138214444 138214444 single base substitution G A intron_variant MELA-AU 7 138214522 138214522 single base substitution C T downstream_gene_variant MELA-AU 7 138214522 138214522 single base substitution C T intron_variant MELA-AU 7 138214533 138214533 single base substitution C T downstream_gene_variant MELA-AU 7 138214533 138214533 single base substitution C T intron_variant MELA-AU 7 138214696 138214696 single base substitution C T downstream_gene_variant MELA-AU 7 138214696 138214696 single base substitution C T intron_variant MELA-AU 7 138214804 138214804 single base substitution C T downstream_gene_variant MELA-AU 7 138214804 138214804 single base substitution C T intron_variant MELA-AU 7 138215223 138215223 single base substitution T A intron_variant MELA-AU 7 138215432 138215432 single base substitution C T intron_variant MELA-AU 7 138215702 138215702 single base substitution T C intron_variant MELA-AU 7 138215948 138215948 single base substitution A G intron_variant MELA-AU 7 138216004 138216004 single base substitution T A intron_variant MELA-AU 7 138216461 138216461 single base substitution C T intron_variant MELA-AU 7 138216593 138216593 single base substitution T C intron_variant MELA-AU 7 138217579 138217579 single base substitution C T intron_variant MELA-AU 7 138217676 138217676 single base substitution C T intron_variant MELA-AU 7 138217960 138217960 single base substitution T C intron_variant MELA-AU 7 138218028 138218028 single base substitution C T intron_variant MELA-AU 7 138218497 138218497 single base substitution C T intron_variant MELA-AU 7 138218716 138218716 single base substitution C T intron_variant MELA-AU 7 138218792 138218793 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 138218796 138218796 single base substitution C T intron_variant MELA-AU 7 138218809 138218809 single base substitution C T intron_variant MELA-AU 7 138218986 138218986 single base substitution C T intron_variant MELA-AU 7 138219802 138219802 single base substitution C T intron_variant MELA-AU 7 138220577 138220577 single base substitution C T intron_variant MELA-AU 7 138220655 138220655 single base substitution C T intron_variant MELA-AU 7 138221309 138221309 single base substitution C T intron_variant MELA-AU 7 138221329 138221329 single base substitution C T intron_variant MELA-AU 7 138221434 138221435 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 7 138221735 138221735 single base substitution C T intron_variant MELA-AU 7 138221935 138221935 single base substitution C T intron_variant MELA-AU 7 138222276 138222276 single base substitution G A intron_variant MELA-AU 7 138222293 138222293 single base substitution G A intron_variant MELA-AU 7 138222461 138222461 single base substitution T G intron_variant MELA-AU 7 138222528 138222528 single base substitution C T intron_variant MELA-AU 7 138222644 138222644 single base substitution G A intron_variant MELA-AU 7 138222658 138222658 single base substitution C T intron_variant MELA-AU 7 138222893 138222893 single base substitution C T intron_variant MELA-AU 7 138223129 138223129 single base substitution T C intron_variant MELA-AU 7 138223254 138223254 single base substitution T A intron_variant MELA-AU 7 138223405 138223405 single base substitution C T exon_variant MELA-AU 7 138223405 138223405 single base substitution C T missense_variant L334F 1000C>T MELA-AU 7 138223893 138223893 single base substitution C T intron_variant MELA-AU 7 138224411 138224411 single base substitution C T intron_variant MELA-AU 7 138224743 138224743 single base substitution C T intron_variant MELA-AU 7 138224772 138224772 single base substitution C T intron_variant MELA-AU 7 138224919 138224919 single base substitution G A intron_variant MELA-AU 7 138224922 138224922 single base substitution G T intron_variant MELA-AU 7 138224947 138224947 single base substitution G A intron_variant MELA-AU 7 138225004 138225004 single base substitution G A intron_variant MELA-AU 7 138225149 138225149 single base substitution C T intron_variant MELA-AU 7 138225303 138225303 single base substitution T A intron_variant MELA-AU 7 138226159 138226159 single base substitution A G intron_variant MELA-AU 7 138226832 138226832 single base substitution C T intron_variant MELA-AU 7 138226900 138226900 single base substitution C T intron_variant MELA-AU 7 138226989 138226989 single base substitution C T intron_variant MELA-AU 7 138227619 138227619 single base substitution C T intron_variant MELA-AU 7 138227663 138227663 single base substitution C T intron_variant MELA-AU 7 138228216 138228216 single base substitution A G intron_variant MELA-AU 7 138228264 138228264 single base substitution G A intron_variant MELA-AU 7 138228503 138228503 single base substitution A T intron_variant MELA-AU 7 138228508 138228508 single base substitution C T intron_variant MELA-AU 7 138228944 138228944 single base substitution C T intron_variant MELA-AU 7 138229400 138229400 single base substitution C T intron_variant MELA-AU 7 138229426 138229426 single base substitution C T intron_variant MELA-AU 7 138229842 138229842 single base substitution C T intron_variant MELA-AU 7 138230006 138230006 single base substitution G A intron_variant MELA-AU 7 138230254 138230254 single base substitution C T intron_variant MELA-AU 7 138230353 138230353 single base substitution C T intron_variant MELA-AU 7 138230432 138230432 single base substitution T C intron_variant MELA-AU 7 138230440 138230440 single base substitution T A intron_variant MELA-AU 7 138231458 138231458 single base substitution C T intron_variant MELA-AU 7 138231543 138231543 single base substitution G A intron_variant MELA-AU 7 138232196 138232196 single base substitution C T intron_variant MELA-AU 7 138232291 138232291 single base substitution T C intron_variant MELA-AU 7 138232587 138232587 single base substitution C T intron_variant MELA-AU 7 138233310 138233310 deletion of <=200bp T - intron_variant MELA-AU 7 138233606 138233606 single base substitution T C intron_variant MELA-AU 7 138234161 138234161 single base substitution C T intron_variant MELA-AU 7 138234705 138234705 single base substitution T C intron_variant MELA-AU 7 138234705 138234705 single base substitution T C upstream_gene_variant MELA-AU 7 138235156 138235156 single base substitution C T intron_variant MELA-AU 7 138235156 138235156 single base substitution C T upstream_gene_variant MELA-AU 7 138235408 138235408 single base substitution C T intron_variant MELA-AU 7 138235408 138235408 single base substitution C T upstream_gene_variant MELA-AU 7 138235940 138235941 multiple base substitution (>=2bp and <=200bp) TT CA intron_variant MELA-AU 7 138235940 138235941 multiple base substitution (>=2bp and <=200bp) TT CA upstream_gene_variant MELA-AU 7 138236342 138236342 single base substitution A G intron_variant MELA-AU 7 138236342 138236342 single base substitution A G upstream_gene_variant MELA-AU 7 138236422 138236422 single base substitution C T intron_variant MELA-AU 7 138236422 138236422 single base substitution C T upstream_gene_variant MELA-AU 7 138236423 138236423 single base substitution C T intron_variant MELA-AU 7 138236423 138236423 single base substitution C T upstream_gene_variant MELA-AU 7 138236463 138236463 single base substitution T C intron_variant MELA-AU 7 138236463 138236463 single base substitution T C upstream_gene_variant MELA-AU 7 138236525 138236525 single base substitution T A intron_variant MELA-AU 7 138236525 138236525 single base substitution T A upstream_gene_variant MELA-AU 7 138236574 138236574 single base substitution A G intron_variant MELA-AU 7 138236574 138236574 single base substitution A G upstream_gene_variant MELA-AU 7 138236579 138236579 single base substitution C G intron_variant MELA-AU 7 138236579 138236579 single base substitution C G upstream_gene_variant MELA-AU 7 138237897 138237897 single base substitution G T intron_variant MELA-AU 7 138237897 138237897 single base substitution G T upstream_gene_variant MELA-AU 7 138238540 138238540 single base substitution C T intron_variant MELA-AU 7 138238540 138238540 single base substitution C T upstream_gene_variant MELA-AU 7 138239496 138239496 single base substitution C T exon_variant MELA-AU 7 138239496 138239496 single base substitution C T missense_variant P439S 1315C>T MELA-AU 7 138239496 138239496 single base substitution C T upstream_gene_variant MELA-AU 7 138239558 138239558 single base substitution C T exon_variant MELA-AU 7 138239558 138239558 single base substitution C T synonymous_variant F459F 1377C>T MELA-AU 7 138239675 138239675 single base substitution G C exon_variant MELA-AU 7 138239675 138239675 single base substitution G C intron_variant MELA-AU 7 138239675 138239675 single base substitution G C missense_variant M498I 1494G>C MELA-AU 7 138239833 138239833 single base substitution C T intron_variant MELA-AU 7 138240675 138240675 single base substitution C T intron_variant MELA-AU 7 138240840 138240840 single base substitution C T intron_variant MELA-AU 7 138240850 138240850 single base substitution C T intron_variant MELA-AU 7 138240964 138240964 single base substitution G A intron_variant MELA-AU 7 138241293 138241293 single base substitution G A intron_variant MELA-AU 7 138241450 138241450 single base substitution C T intron_variant MELA-AU 7 138241762 138241762 single base substitution T G intron_variant MELA-AU 7 138242055 138242055 single base substitution T A intron_variant MELA-AU 7 138242271 138242271 single base substitution C T intron_variant MELA-AU 7 138243065 138243065 single base substitution C T intron_variant MELA-AU 7 138243070 138243070 single base substitution C T intron_variant MELA-AU 7 138243349 138243349 single base substitution C T intron_variant MELA-AU 7 138243397 138243397 single base substitution T C intron_variant MELA-AU 7 138243825 138243825 single base substitution C T intron_variant MELA-AU 7 138243879 138243879 single base substitution C T intron_variant MELA-AU 7 138243898 138243898 single base substitution C T intron_variant MELA-AU 7 138244740 138244740 single base substitution C T intron_variant MELA-AU 7 138245264 138245264 single base substitution T C intron_variant MELA-AU 7 138245592 138245592 single base substitution C T intron_variant MELA-AU 7 138245756 138245756 single base substitution C T intron_variant MELA-AU 7 138245890 138245890 single base substitution G A intron_variant MELA-AU 7 138246514 138246514 single base substitution C T intron_variant MELA-AU 7 138246566 138246566 single base substitution C T intron_variant MELA-AU 7 138246655 138246655 single base substitution C T intron_variant MELA-AU 7 138246736 138246736 single base substitution C T intron_variant MELA-AU 7 138246795 138246795 single base substitution G A intron_variant MELA-AU 7 138246928 138246928 single base substitution G A intron_variant MELA-AU 7 138247136 138247136 single base substitution C T intron_variant MELA-AU 7 138247387 138247387 single base substitution C T intron_variant MELA-AU 7 138247676 138247676 single base substitution G T intron_variant MELA-AU 7 138247946 138247947 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 138247947 138247947 single base substitution C T intron_variant MELA-AU 7 138247972 138247972 single base substitution C T intron_variant MELA-AU 7 138248196 138248196 single base substitution C T intron_variant MELA-AU 7 138248254 138248254 single base substitution C T intron_variant MELA-AU 7 138248643 138248643 single base substitution G A intron_variant MELA-AU 7 138248859 138248859 single base substitution C T intron_variant MELA-AU 7 138248986 138248986 single base substitution C T intron_variant MELA-AU 7 138249476 138249476 single base substitution C T intron_variant MELA-AU 7 138249488 138249488 single base substitution C T intron_variant MELA-AU 7 138249541 138249541 single base substitution G A intron_variant MELA-AU 7 138249626 138249626 single base substitution C T intron_variant MELA-AU 7 138250362 138250362 single base substitution C T intron_variant MELA-AU 7 138250750 138250750 single base substitution G A intron_variant MELA-AU 7 138250908 138250908 single base substitution T C intron_variant MELA-AU 7 138250916 138250917 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 138251136 138251136 single base substitution C T intron_variant MELA-AU 7 138251301 138251301 single base substitution T C intron_variant MELA-AU 7 138251578 138251578 single base substitution C T intron_variant MELA-AU 7 138252298 138252298 single base substitution C T exon_variant MELA-AU 7 138252298 138252298 single base substitution C T missense_variant P501S 1501C>T MELA-AU 7 138252298 138252298 single base substitution C T missense_variant P535S 1603C>T MELA-AU 7 138252863 138252863 single base substitution T C intron_variant MELA-AU 7 138253377 138253377 single base substitution C T intron_variant MELA-AU 7 138253752 138253752 single base substitution A T intron_variant MELA-AU 7 138253839 138253839 single base substitution C T intron_variant MELA-AU 7 138253872 138253872 single base substitution C T intron_variant MELA-AU 7 138254693 138254693 single base substitution T C intron_variant MELA-AU 7 138254925 138254925 single base substitution C T intron_variant MELA-AU 7 138254962 138254962 single base substitution G T intron_variant MELA-AU 7 138255494 138255494 single base substitution C T intron_variant MELA-AU 7 138255602 138255602 single base substitution C T exon_variant MELA-AU 7 138255602 138255602 single base substitution C T missense_variant P544S 1630C>T MELA-AU 7 138255602 138255602 single base substitution C T missense_variant P578S 1732C>T MELA-AU 7 138255690 138255690 single base substitution C T downstream_gene_variant MELA-AU 7 138255690 138255690 single base substitution C T exon_variant MELA-AU 7 138255690 138255690 single base substitution C T missense_variant P573L 1718C>T MELA-AU 7 138255690 138255690 single base substitution C T missense_variant P607L 1820C>T MELA-AU 7 138255697 138255697 single base substitution C T downstream_gene_variant MELA-AU 7 138255697 138255697 single base substitution C T exon_variant MELA-AU 7 138255697 138255697 single base substitution C T synonymous_variant I575I 1725C>T MELA-AU 7 138255697 138255697 single base substitution C T synonymous_variant I609I 1827C>T MELA-AU 7 138255743 138255743 single base substitution C T downstream_gene_variant MELA-AU 7 138255743 138255743 single base substitution C T exon_variant MELA-AU 7 138255743 138255743 single base substitution C T missense_variant P591S 1771C>T MELA-AU 7 138255743 138255743 single base substitution C T missense_variant P625S 1873C>T MELA-AU 7 138256032 138256032 single base substitution C T downstream_gene_variant MELA-AU 7 138256032 138256032 single base substitution C T intron_variant MELA-AU 7 138256681 138256681 single base substitution C T downstream_gene_variant MELA-AU 7 138256681 138256681 single base substitution C T intron_variant MELA-AU 7 138256872 138256872 single base substitution C T downstream_gene_variant MELA-AU 7 138256872 138256872 single base substitution C T intron_variant MELA-AU 7 138257256 138257256 single base substitution C T downstream_gene_variant MELA-AU 7 138257256 138257256 single base substitution C T intron_variant MELA-AU 7 138257608 138257608 single base substitution G A downstream_gene_variant MELA-AU 7 138257608 138257608 single base substitution G A intron_variant MELA-AU 7 138257723 138257724 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 138257723 138257724 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 138257822 138257822 single base substitution C T downstream_gene_variant MELA-AU 7 138257822 138257822 single base substitution C T intron_variant MELA-AU 7 138257978 138257978 single base substitution C T downstream_gene_variant MELA-AU 7 138257978 138257978 single base substitution C T intron_variant MELA-AU 7 138258294 138258294 single base substitution A T downstream_gene_variant MELA-AU 7 138258294 138258294 single base substitution A T exon_variant MELA-AU 7 138258294 138258294 single base substitution A T stop_gained K607* 1819A>T MELA-AU 7 138258294 138258294 single base substitution A T stop_gained K641* 1921A>T MELA-AU 7 138258468 138258468 single base substitution C T downstream_gene_variant MELA-AU 7 138258468 138258468 single base substitution C T intron_variant MELA-AU 7 138260317 138260317 single base substitution C T downstream_gene_variant MELA-AU 7 138260317 138260317 single base substitution C T intron_variant MELA-AU 7 138260555 138260555 single base substitution C T downstream_gene_variant MELA-AU 7 138260555 138260555 single base substitution C T intron_variant MELA-AU 7 138262021 138262021 single base substitution C T downstream_gene_variant MELA-AU 7 138262021 138262021 single base substitution C T intron_variant MELA-AU 7 138262078 138262078 single base substitution G A downstream_gene_variant MELA-AU 7 138262078 138262078 single base substitution G A intron_variant MELA-AU 7 138262312 138262312 single base substitution T G downstream_gene_variant MELA-AU 7 138262312 138262312 single base substitution T G missense_variant D711E 2133T>G MELA-AU 7 138262312 138262312 single base substitution T G missense_variant D745E 2235T>G MELA-AU 7 138262869 138262869 single base substitution C T downstream_gene_variant MELA-AU 7 138262869 138262869 single base substitution C T intron_variant MELA-AU 7 138263098 138263098 single base substitution G C downstream_gene_variant MELA-AU 7 138263098 138263098 single base substitution G C intron_variant MELA-AU 7 138263400 138263400 single base substitution T C intron_variant MELA-AU 7 138263736 138263736 single base substitution C T intron_variant MELA-AU 7 138264263 138264263 single base substitution G A synonymous_variant L823L 2469G>A MELA-AU 7 138264263 138264263 single base substitution G A synonymous_variant L857L 2571G>A MELA-AU 7 138264293 138264294 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 138264440 138264440 single base substitution C T intron_variant MELA-AU 7 138264741 138264741 single base substitution C T intron_variant MELA-AU 7 138265025 138265025 single base substitution C T intron_variant MELA-AU 7 138265616 138265616 single base substitution A T intron_variant MELA-AU 7 138265730 138265730 single base substitution C T intron_variant MELA-AU 7 138265751 138265751 single base substitution C T intron_variant MELA-AU 7 138266148 138266148 single base substitution C T intron_variant MELA-AU 7 138266211 138266211 single base substitution A G intron_variant MELA-AU 7 138266309 138266309 single base substitution T C intron_variant MELA-AU 7 138266509 138266509 single base substitution C T missense_variant P895L 2684C>T MELA-AU 7 138266509 138266509 single base substitution C T missense_variant P929L 2786C>T MELA-AU 7 138266958 138266958 single base substitution G A intron_variant MELA-AU 7 138266971 138266971 single base substitution C T intron_variant MELA-AU 7 138267219 138267219 single base substitution G A intron_variant MELA-AU 7 138267241 138267241 single base substitution C T intron_variant MELA-AU 7 138268112 138268112 single base substitution C T intron_variant MELA-AU 7 138269287 138269287 single base substitution C T intron_variant MELA-AU 7 138269454 138269454 single base substitution C T intron_variant MELA-AU 7 138269746 138269746 single base substitution A G 3_prime_UTR_variant MELA-AU 7 138269783 138269783 single base substitution G A 3_prime_UTR_variant MELA-AU 7 138269838 138269838 single base substitution C T 3_prime_UTR_variant MELA-AU 7 138269869 138269869 single base substitution C T 3_prime_UTR_variant MELA-AU 7 138270249 138270250 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 7 138270290 138270290 single base substitution C T 3_prime_UTR_variant MELA-AU 7 138270395 138270395 single base substitution C T 3_prime_UTR_variant MELA-AU 7 138270395 138270395 single base substitution C T downstream_gene_variant MELA-AU 7 138270512 138270512 single base substitution T C 3_prime_UTR_variant MELA-AU 7 138270512 138270512 single base substitution T C downstream_gene_variant MELA-AU 7 138271530 138271530 single base substitution C T 3_prime_UTR_variant MELA-AU 7 138271530 138271530 single base substitution C T downstream_gene_variant MELA-AU 7 138271735 138271735 single base substitution C T 3_prime_UTR_variant MELA-AU 7 138271735 138271735 single base substitution C T downstream_gene_variant MELA-AU 7 138272220 138272220 single base substitution C T 3_prime_UTR_variant MELA-AU 7 138272220 138272220 single base substitution C T downstream_gene_variant MELA-AU 7 138272232 138272232 single base substitution T C 3_prime_UTR_variant MELA-AU 7 138272232 138272232 single base substitution T C downstream_gene_variant MELA-AU 7 138272383 138272383 single base substitution C T 3_prime_UTR_variant MELA-AU 7 138272383 138272383 single base substitution C T downstream_gene_variant MELA-AU 7 138272399 138272399 single base substitution C T 3_prime_UTR_variant MELA-AU 7 138272399 138272399 single base substitution C T downstream_gene_variant MELA-AU 7 138272644 138272644 single base substitution C T 3_prime_UTR_variant MELA-AU 7 138272644 138272644 single base substitution C T downstream_gene_variant MELA-AU 7 138272879 138272879 single base substitution G A 3_prime_UTR_variant MELA-AU 7 138272879 138272879 single base substitution G A downstream_gene_variant MELA-AU 7 138273194 138273194 single base substitution C T 3_prime_UTR_variant MELA-AU 7 138273194 138273194 single base substitution C T downstream_gene_variant MELA-AU 7 138273458 138273458 single base substitution T G 3_prime_UTR_variant MELA-AU 7 138273458 138273458 single base substitution T G downstream_gene_variant MELA-AU 7 138273670 138273670 single base substitution T C 3_prime_UTR_variant MELA-AU 7 138273670 138273670 single base substitution T C downstream_gene_variant MELA-AU 7 138274106 138274106 single base substitution T C 3_prime_UTR_variant MELA-AU 7 138274106 138274106 single base substitution T C downstream_gene_variant MELA-AU 7 138274202 138274202 single base substitution C T 3_prime_UTR_variant MELA-AU 7 138274202 138274202 single base substitution C T downstream_gene_variant MELA-AU 7 138274645 138274645 single base substitution T C 3_prime_UTR_variant MELA-AU 7 138274645 138274645 single base substitution T C downstream_gene_variant MELA-AU 7 138274723 138274723 deletion of <=200bp T - 3_prime_UTR_variant MELA-AU 7 138274723 138274723 deletion of <=200bp T - downstream_gene_variant MELA-AU 7 138274961 138274961 single base substitution T A downstream_gene_variant MELA-AU 7 138275053 138275053 single base substitution C T downstream_gene_variant MELA-AU 7 138276066 138276066 single base substitution C T downstream_gene_variant MELA-AU 7 138276338 138276338 single base substitution C T downstream_gene_variant MELA-AU 7 138276738 138276738 single base substitution C T downstream_gene_variant MELA-AU 7 138276834 138276834 single base substitution C T downstream_gene_variant MELA-AU 7 138276865 138276865 single base substitution C T downstream_gene_variant MELA-AU 7 138277530 138277530 single base substitution T C downstream_gene_variant MELA-AU 7 138277574 138277575 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 138277966 138277966 single base substitution C T downstream_gene_variant MELA-AU 7 138278474 138278474 single base substitution C T downstream_gene_variant MELA-AU 7 138278792 138278792 single base substitution G A downstream_gene_variant MELA-AU 7 138278815 138278815 single base substitution C T downstream_gene_variant MELA-AU 7 138278873 138278873 single base substitution C T downstream_gene_variant MELA-AU 7 138279103 138279103 single base substitution C T downstream_gene_variant MELA-AU 7 138279474 138279474 single base substitution T G downstream_gene_variant ORCA-IN 7 138172956 138172956 single base substitution G A intron_variant ORCA-IN 7 138200582 138200583 deletion of <=200bp AT - downstream_gene_variant ORCA-IN 7 138200582 138200583 deletion of <=200bp AT - intron_variant ORCA-IN 7 138227559 138227559 single base substitution G C intron_variant ORCA-IN 7 138255949 138255949 single base substitution G A downstream_gene_variant ORCA-IN 7 138255949 138255949 single base substitution G A intron_variant ORCA-IN 7 138265438 138265438 single base substitution G A missense_variant R872K 2615G>A ORCA-IN 7 138265438 138265438 single base substitution G A missense_variant R906K 2717G>A ORCA-IN 7 138277648 138277648 single base substitution G C downstream_gene_variant OV-AU 7 138142658 138142658 single base substitution G T upstream_gene_variant OV-AU 7 138144632 138144632 single base substitution A C upstream_gene_variant OV-AU 7 138145069 138145069 single base substitution G C upstream_gene_variant OV-AU 7 138146334 138146334 single base substitution G T intron_variant OV-AU 7 138147539 138147539 single base substitution T A intron_variant OV-AU 7 138148897 138148897 single base substitution G A intron_variant OV-AU 7 138149110 138149110 single base substitution T A intron_variant OV-AU 7 138158509 138158509 single base substitution A G intron_variant OV-AU 7 138160896 138160896 single base substitution A T intron_variant OV-AU 7 138168325 138168325 single base substitution C T intron_variant OV-AU 7 138172210 138172210 single base substitution G A intron_variant OV-AU 7 138176834 138176834 single base substitution G T intron_variant OV-AU 7 138181430 138181430 single base substitution G C intron_variant OV-AU 7 138182184 138182184 single base substitution C G intron_variant OV-AU 7 138190966 138190966 single base substitution G C intron_variant OV-AU 7 138197379 138197379 single base substitution G T intron_variant OV-AU 7 138197379 138197379 single base substitution G T upstream_gene_variant OV-AU 7 138197668 138197668 single base substitution A T intron_variant OV-AU 7 138197668 138197668 single base substitution A T upstream_gene_variant OV-AU 7 138199179 138199179 single base substitution T C exon_variant OV-AU 7 138199179 138199179 single base substitution T C intron_variant OV-AU 7 138200475 138200475 single base substitution C A downstream_gene_variant OV-AU 7 138200475 138200475 single base substitution C A intron_variant OV-AU 7 138202300 138202300 single base substitution G C downstream_gene_variant OV-AU 7 138202300 138202300 single base substitution G C intron_variant OV-AU 7 138207741 138207741 single base substitution A T intron_variant OV-AU 7 138207847 138207847 single base substitution G T intron_variant OV-AU 7 138210054 138210054 single base substitution T A exon_variant OV-AU 7 138210054 138210054 single base substitution T A missense_variant M278K 833T>A OV-AU 7 138210709 138210709 single base substitution G A downstream_gene_variant OV-AU 7 138210709 138210709 single base substitution G A intron_variant OV-AU 7 138211255 138211255 single base substitution C A downstream_gene_variant OV-AU 7 138211255 138211255 single base substitution C A intron_variant OV-AU 7 138212809 138212809 single base substitution C G downstream_gene_variant OV-AU 7 138212809 138212809 single base substitution C G intron_variant OV-AU 7 138216725 138216725 single base substitution A T intron_variant OV-AU 7 138219176 138219176 single base substitution T A intron_variant OV-AU 7 138237872 138237872 single base substitution A C intron_variant OV-AU 7 138237872 138237872 single base substitution A C upstream_gene_variant OV-AU 7 138243655 138243655 single base substitution A T intron_variant OV-AU 7 138249297 138249297 single base substitution C A intron_variant OV-AU 7 138265078 138265078 single base substitution A T intron_variant OV-AU 7 138267053 138267053 single base substitution C T intron_variant OV-AU 7 138270188 138270188 single base substitution A G 3_prime_UTR_variant OV-AU 7 138271262 138271262 single base substitution T G 3_prime_UTR_variant OV-AU 7 138271262 138271262 single base substitution T G downstream_gene_variant OV-AU 7 138274585 138274585 single base substitution G C 3_prime_UTR_variant OV-AU 7 138274585 138274585 single base substitution G C downstream_gene_variant OV-AU 7 138276603 138276603 single base substitution G C downstream_gene_variant OV-AU 7 138278505 138278505 single base substitution T G downstream_gene_variant OV-AU 7 138278691 138278691 single base substitution T G downstream_gene_variant OV-US 7 138269549 138269549 single base substitution G C missense_variant K1002N 3006G>C OV-US 7 138269549 138269549 single base substitution G C missense_variant K968N 2904G>C PACA-AU 7 138142530 138142530 single base substitution C A upstream_gene_variant PACA-AU 7 138143055 138143055 single base substitution G C upstream_gene_variant PACA-AU 7 138145736 138145736 single base substitution C T intron_variant PACA-AU 7 138145736 138145736 single base substitution C T upstream_gene_variant PACA-AU 7 138150406 138150406 single base substitution C G intron_variant PACA-AU 7 138152498 138152498 single base substitution A T intron_variant PACA-AU 7 138152899 138152899 single base substitution C G intron_variant PACA-AU 7 138159938 138159938 single base substitution A G intron_variant PACA-AU 7 138161923 138161923 single base substitution A C intron_variant PACA-AU 7 138162042 138162042 single base substitution G C intron_variant PACA-AU 7 138163624 138163624 deletion of <=200bp T - intron_variant PACA-AU 7 138164739 138164739 insertion of <=200bp - T intron_variant PACA-AU 7 138167995 138167995 single base substitution A T intron_variant PACA-AU 7 138170124 138170124 single base substitution G T intron_variant PACA-AU 7 138172282 138172283 deletion of <=200bp GA - intron_variant PACA-AU 7 138172723 138172723 deletion of <=200bp T - intron_variant PACA-AU 7 138176571 138176571 single base substitution T G intron_variant PACA-AU 7 138178726 138178726 single base substitution A G intron_variant PACA-AU 7 138179103 138179103 single base substitution A C intron_variant PACA-AU 7 138180185 138180185 deletion of <=200bp T - intron_variant PACA-AU 7 138182819 138182819 single base substitution G T intron_variant PACA-AU 7 138183865 138183865 single base substitution T G intron_variant PACA-AU 7 138190248 138190248 insertion of <=200bp - GGT intron_variant PACA-AU 7 138190257 138190257 single base substitution T G intron_variant PACA-AU 7 138192692 138192692 single base substitution T A intron_variant PACA-AU 7 138195974 138195974 single base substitution G A intron_variant PACA-AU 7 138195974 138195974 single base substitution G A upstream_gene_variant PACA-AU 7 138201125 138201125 single base substitution G A downstream_gene_variant PACA-AU 7 138201125 138201125 single base substitution G A intron_variant PACA-AU 7 138201707 138201707 single base substitution C T downstream_gene_variant PACA-AU 7 138201707 138201707 single base substitution C T intron_variant PACA-AU 7 138203435 138203435 single base substitution T G downstream_gene_variant PACA-AU 7 138203435 138203435 single base substitution T G intron_variant PACA-AU 7 138216019 138216019 single base substitution G A intron_variant PACA-AU 7 138219602 138219602 single base substitution T A intron_variant PACA-AU 7 138221599 138221599 single base substitution G A intron_variant PACA-AU 7 138221816 138221816 single base substitution G T intron_variant PACA-AU 7 138222132 138222132 single base substitution T A intron_variant PACA-AU 7 138224636 138224636 single base substitution C T intron_variant PACA-AU 7 138226513 138226513 single base substitution T A intron_variant PACA-AU 7 138232918 138232920 deletion of <=200bp CAT - intron_variant PACA-AU 7 138233810 138233810 single base substitution A G intron_variant PACA-AU 7 138242978 138242978 single base substitution T G intron_variant PACA-AU 7 138248276 138248276 deletion of <=200bp T - intron_variant PACA-AU 7 138254100 138254100 single base substitution C G intron_variant PACA-AU 7 138258605 138258605 single base substitution G T downstream_gene_variant PACA-AU 7 138258605 138258605 single base substitution G T intron_variant PACA-AU 7 138259738 138259738 single base substitution A T downstream_gene_variant PACA-AU 7 138259738 138259738 single base substitution A T intron_variant PACA-AU 7 138261221 138261221 single base substitution A G downstream_gene_variant PACA-AU 7 138261221 138261221 single base substitution A G intron_variant PACA-AU 7 138263666 138263667 deletion of <=200bp TA - intron_variant PACA-AU 7 138263832 138263832 single base substitution C T intron_variant PACA-AU 7 138271328 138271328 single base substitution T A 3_prime_UTR_variant PACA-AU 7 138271328 138271328 single base substitution T A downstream_gene_variant PACA-AU 7 138272178 138272180 deletion of <=200bp TAA - 3_prime_UTR_variant PACA-AU 7 138272178 138272180 deletion of <=200bp TAA - downstream_gene_variant PACA-AU 7 138274337 138274337 single base substitution A T 3_prime_UTR_variant PACA-AU 7 138274337 138274337 single base substitution A T downstream_gene_variant PACA-CA 7 138140359 138140359 single base substitution C T upstream_gene_variant PACA-CA 7 138143125 138143125 single base substitution C T upstream_gene_variant PACA-CA 7 138149410 138149410 single base substitution T C intron_variant PACA-CA 7 138149954 138149954 deletion of <=200bp A - intron_variant PACA-CA 7 138150571 138150571 single base substitution G C intron_variant PACA-CA 7 138150596 138150596 single base substitution T C intron_variant PACA-CA 7 138150756 138150756 single base substitution T C intron_variant PACA-CA 7 138157315 138157315 single base substitution A T intron_variant PACA-CA 7 138157620 138157620 single base substitution A T intron_variant PACA-CA 7 138158470 138158470 single base substitution C T intron_variant PACA-CA 7 138161325 138161325 single base substitution G A intron_variant PACA-CA 7 138163034 138163034 single base substitution A G intron_variant PACA-CA 7 138163811 138163811 insertion of <=200bp - T intron_variant PACA-CA 7 138167130 138167130 insertion of <=200bp - A intron_variant PACA-CA 7 138168140 138168140 single base substitution G T intron_variant PACA-CA 7 138172154 138172154 single base substitution C T intron_variant PACA-CA 7 138178289 138178289 single base substitution G A intron_variant PACA-CA 7 138178570 138178570 insertion of <=200bp - T intron_variant PACA-CA 7 138179844 138179844 single base substitution A G intron_variant PACA-CA 7 138182574 138182574 single base substitution T C intron_variant PACA-CA 7 138182979 138182979 deletion of <=200bp T - intron_variant PACA-CA 7 138184563 138184563 single base substitution T C intron_variant PACA-CA 7 138184797 138184797 single base substitution G A intron_variant PACA-CA 7 138185233 138185233 single base substitution G A intron_variant PACA-CA 7 138187428 138187428 single base substitution G C intron_variant PACA-CA 7 138189044 138189044 single base substitution T C exon_variant PACA-CA 7 138189044 138189044 single base substitution T C missense_variant I125T 374T>C PACA-CA 7 138192331 138192331 single base substitution G T intron_variant PACA-CA 7 138192692 138192692 single base substitution T A intron_variant PACA-CA 7 138193465 138193465 single base substitution C T intron_variant PACA-CA 7 138195156 138195156 single base substitution G T intron_variant PACA-CA 7 138195156 138195156 single base substitution G T upstream_gene_variant PACA-CA 7 138195833 138195833 deletion of <=200bp T - intron_variant PACA-CA 7 138195833 138195833 deletion of <=200bp T - upstream_gene_variant PACA-CA 7 138196792 138196792 single base substitution C T intron_variant PACA-CA 7 138196792 138196792 single base substitution C T upstream_gene_variant PACA-CA 7 138197388 138197388 single base substitution G A intron_variant PACA-CA 7 138197388 138197388 single base substitution G A upstream_gene_variant PACA-CA 7 138199659 138199659 single base substitution A C intron_variant PACA-CA 7 138200981 138200981 single base substitution A G downstream_gene_variant PACA-CA 7 138200981 138200981 single base substitution A G intron_variant PACA-CA 7 138204035 138204035 single base substitution G T downstream_gene_variant PACA-CA 7 138204035 138204035 single base substitution G T exon_variant PACA-CA 7 138204035 138204035 single base substitution G T missense_variant D245Y 733G>T PACA-CA 7 138204212 138204212 single base substitution T C downstream_gene_variant PACA-CA 7 138204212 138204212 single base substitution T C intron_variant PACA-CA 7 138205204 138205204 single base substitution A C intron_variant PACA-CA 7 138206503 138206503 single base substitution A G intron_variant PACA-CA 7 138208226 138208226 single base substitution C T intron_variant PACA-CA 7 138210891 138210891 single base substitution C T downstream_gene_variant PACA-CA 7 138210891 138210891 single base substitution C T intron_variant PACA-CA 7 138214764 138214764 single base substitution T C downstream_gene_variant PACA-CA 7 138214764 138214764 single base substitution T C intron_variant PACA-CA 7 138215414 138215414 single base substitution G A intron_variant PACA-CA 7 138215556 138215556 single base substitution A C intron_variant PACA-CA 7 138223339 138223339 single base substitution A C intron_variant PACA-CA 7 138224512 138224512 insertion of <=200bp - A intron_variant PACA-CA 7 138226098 138226098 single base substitution T G intron_variant PACA-CA 7 138229842 138229842 single base substitution C A intron_variant PACA-CA 7 138232644 138232644 single base substitution G T intron_variant PACA-CA 7 138234924 138234924 single base substitution C G intron_variant PACA-CA 7 138234924 138234924 single base substitution C G upstream_gene_variant PACA-CA 7 138235750 138235750 single base substitution A G intron_variant PACA-CA 7 138235750 138235750 single base substitution A G upstream_gene_variant PACA-CA 7 138239404 138239404 single base substitution C G intron_variant PACA-CA 7 138239404 138239404 single base substitution C G upstream_gene_variant PACA-CA 7 138239594 138239594 single base substitution G C exon_variant PACA-CA 7 138239594 138239594 single base substitution G C missense_variant Q471H 1413G>C PACA-CA 7 138243730 138243730 single base substitution G A intron_variant PACA-CA 7 138245313 138245313 single base substitution T A intron_variant PACA-CA 7 138249217 138249217 single base substitution T G intron_variant PACA-CA 7 138249515 138249515 single base substitution A G intron_variant PACA-CA 7 138250281 138250281 single base substitution G C intron_variant PACA-CA 7 138255017 138255017 single base substitution G A intron_variant PACA-CA 7 138257356 138257356 single base substitution A G downstream_gene_variant PACA-CA 7 138257356 138257356 single base substitution A G intron_variant PACA-CA 7 138260466 138260466 single base substitution C A downstream_gene_variant PACA-CA 7 138260466 138260466 single base substitution C A intron_variant PACA-CA 7 138263875 138263875 single base substitution G T intron_variant PACA-CA 7 138265550 138265550 single base substitution A T intron_variant PACA-CA 7 138266451 138266451 single base substitution C T missense_variant R876C 2626C>T PACA-CA 7 138266451 138266451 single base substitution C T missense_variant R910C 2728C>T PACA-CA 7 138267475 138267475 single base substitution T A intron_variant PACA-CA 7 138269398 138269409 deletion of <=200bp AACACTTTTCAA - intron_variant PACA-CA 7 138269983 138269983 single base substitution C T 3_prime_UTR_variant PACA-CA 7 138271357 138271357 single base substitution G T 3_prime_UTR_variant PACA-CA 7 138271357 138271357 single base substitution G T downstream_gene_variant PACA-CA 7 138278793 138278793 single base substitution A G downstream_gene_variant PACA-CA 7 138279376 138279376 single base substitution A G downstream_gene_variant PAEN-AU 7 138213062 138213062 single base substitution A G downstream_gene_variant PAEN-AU 7 138213062 138213062 single base substitution A G intron_variant PAEN-AU 7 138225814 138225814 single base substitution A C intron_variant PAEN-AU 7 138240016 138240016 single base substitution A T intron_variant PAEN-AU 7 138241039 138241039 single base substitution C T exon_variant PAEN-AU 7 138241039 138241039 single base substitution C T intron_variant PAEN-AU 7 138248316 138248316 single base substitution C A intron_variant PAEN-AU 7 138252460 138252460 single base substitution A G intron_variant PAEN-IT 7 138152047 138152047 single base substitution G T intron_variant PAEN-IT 7 138162262 138162262 single base substitution A G intron_variant PAEN-IT 7 138163468 138163468 single base substitution G T intron_variant PAEN-IT 7 138192855 138192855 single base substitution C T intron_variant PAEN-IT 7 138201341 138201341 single base substitution C T downstream_gene_variant PAEN-IT 7 138201341 138201341 single base substitution C T intron_variant PAEN-IT 7 138238557 138238557 single base substitution C G intron_variant PAEN-IT 7 138238557 138238557 single base substitution C G upstream_gene_variant PBCA-DE 7 138142981 138142981 single base substitution C T upstream_gene_variant PBCA-DE 7 138156669 138156669 single base substitution A G intron_variant PBCA-DE 7 138182312 138182312 deletion of <=200bp G - intron_variant PBCA-DE 7 138182321 138182321 insertion of <=200bp - TTT intron_variant PBCA-DE 7 138185459 138185459 deletion of <=200bp A - intron_variant PBCA-DE 7 138186378 138186378 single base substitution A T intron_variant PBCA-DE 7 138193447 138193447 single base substitution T C intron_variant PBCA-DE 7 138193449 138193449 single base substitution T C intron_variant PBCA-DE 7 138193451 138193451 single base substitution T C intron_variant PBCA-DE 7 138193457 138193457 single base substitution T C intron_variant PBCA-DE 7 138206397 138206397 insertion of <=200bp - A intron_variant PBCA-DE 7 138215869 138215869 insertion of <=200bp - TTA intron_variant PBCA-DE 7 138235064 138235065 deletion of <=200bp GT - intron_variant PBCA-DE 7 138235064 138235065 deletion of <=200bp GT - upstream_gene_variant PBCA-DE 7 138242408 138242408 single base substitution A T intron_variant PBCA-DE 7 138255405 138255405 single base substitution G T intron_variant PBCA-DE 7 138258518 138258518 deletion of <=200bp G - downstream_gene_variant PBCA-DE 7 138258518 138258518 deletion of <=200bp G - intron_variant PBCA-DE 7 138262203 138262203 single base substitution C T downstream_gene_variant PBCA-DE 7 138262203 138262203 single base substitution C T missense_variant T675I 2024C>T PBCA-DE 7 138262203 138262203 single base substitution C T missense_variant T709I 2126C>T PBCA-DE 7 138263666 138263667 deletion of <=200bp TA - intron_variant PBCA-DE 7 138264886 138264886 single base substitution G T intron_variant PBCA-DE 7 138272836 138272836 single base substitution C G 3_prime_UTR_variant PBCA-DE 7 138272836 138272836 single base substitution C G downstream_gene_variant PRAD-CA 7 138150374 138150374 single base substitution G A intron_variant PRAD-CA 7 138185077 138185077 single base substitution G C intron_variant PRAD-CA 7 138193447 138193447 single base substitution T C intron_variant PRAD-UK 7 138140220 138140220 single base substitution C G upstream_gene_variant PRAD-UK 7 138143145 138143145 single base substitution A G upstream_gene_variant PRAD-UK 7 138143466 138143466 single base substitution C T upstream_gene_variant PRAD-UK 7 138164335 138164335 single base substitution G A intron_variant PRAD-UK 7 138165751 138165751 single base substitution T A intron_variant PRAD-UK 7 138172057 138172057 single base substitution T C intron_variant PRAD-UK 7 138182645 138182645 single base substitution C T intron_variant PRAD-UK 7 138223107 138223107 single base substitution T C intron_variant PRAD-UK 7 138245556 138245556 single base substitution T C intron_variant PRAD-UK 7 138268667 138268667 single base substitution T G missense_variant Y922D 2764T>G PRAD-UK 7 138268667 138268667 single base substitution T G missense_variant Y956D 2866T>G PRAD-US 7 138145410 138145410 single base substitution G A synonymous_variant P39P 117G>A PRAD-US 7 138145410 138145410 single base substitution G A upstream_gene_variant READ-US 7 138262232 138262232 single base substitution C T downstream_gene_variant READ-US 7 138262232 138262232 single base substitution C T missense_variant P685S 2053C>T READ-US 7 138262232 138262232 single base substitution C T missense_variant P719S 2155C>T READ-US 7 138266451 138266451 single base substitution C T missense_variant R876C 2626C>T READ-US 7 138266451 138266451 single base substitution C T missense_variant R910C 2728C>T READ-US 7 138269562 138269562 insertion of <=200bp - A frameshift_variant E1007R? READ-US 7 138269562 138269562 insertion of <=200bp - A frameshift_variant E973R? RECA-CN 7 138269610 138269610 single base substitution A C missense_variant K1023Q 3067A>C RECA-CN 7 138269610 138269610 single base substitution A C missense_variant K989Q 2965A>C RECA-EU 7 138141137 138141137 single base substitution A G upstream_gene_variant RECA-EU 7 138159698 138159698 single base substitution A T intron_variant RECA-EU 7 138164960 138164960 single base substitution C A intron_variant RECA-EU 7 138189200 138189200 single base substitution T G intron_variant RECA-EU 7 138189201 138189201 single base substitution T G intron_variant RECA-EU 7 138189383 138189383 single base substitution T G intron_variant RECA-EU 7 138190689 138190689 single base substitution G A intron_variant RECA-EU 7 138199835 138199835 single base substitution C T intron_variant RECA-EU 7 138202103 138202103 single base substitution G T downstream_gene_variant RECA-EU 7 138202103 138202103 single base substitution G T intron_variant RECA-EU 7 138212238 138212238 single base substitution C A downstream_gene_variant RECA-EU 7 138212238 138212238 single base substitution C A intron_variant RECA-EU 7 138220071 138220071 single base substitution T C intron_variant RECA-EU 7 138223889 138223889 single base substitution A T intron_variant RECA-EU 7 138229418 138229418 single base substitution T G intron_variant RECA-EU 7 138240200 138240200 single base substitution T C intron_variant RECA-EU 7 138244228 138244228 single base substitution G C intron_variant RECA-EU 7 138254465 138254465 single base substitution A T intron_variant RECA-EU 7 138255714 138255714 single base substitution T A downstream_gene_variant RECA-EU 7 138255714 138255714 single base substitution T A exon_variant RECA-EU 7 138255714 138255714 single base substitution T A missense_variant V581E 1742T>A RECA-EU 7 138255714 138255714 single base substitution T A missense_variant V615E 1844T>A RECA-EU 7 138276658 138276658 single base substitution A G downstream_gene_variant RECA-EU 7 138276954 138276954 single base substitution G A downstream_gene_variant SKCA-BR 7 138140507 138140507 single base substitution G A upstream_gene_variant SKCA-BR 7 138140922 138140923 deletion of <=200bp CG - upstream_gene_variant SKCA-BR 7 138141111 138141111 single base substitution C T upstream_gene_variant SKCA-BR 7 138141503 138141503 single base substitution G A upstream_gene_variant SKCA-BR 7 138143771 138143771 single base substitution G T upstream_gene_variant SKCA-BR 7 138143986 138143986 single base substitution G A upstream_gene_variant SKCA-BR 7 138144778 138144778 single base substitution G A upstream_gene_variant SKCA-BR 7 138144806 138144806 single base substitution T C upstream_gene_variant SKCA-BR 7 138144811 138144811 single base substitution A C upstream_gene_variant SKCA-BR 7 138145086 138145086 single base substitution A C 5_prime_UTR_variant SKCA-BR 7 138145086 138145086 single base substitution A C upstream_gene_variant SKCA-BR 7 138148220 138148220 single base substitution A C intron_variant SKCA-BR 7 138148735 138148735 single base substitution T A intron_variant SKCA-BR 7 138150591 138150591 single base substitution C T intron_variant SKCA-BR 7 138150933 138150933 single base substitution T C intron_variant SKCA-BR 7 138155414 138155414 single base substitution G A intron_variant SKCA-BR 7 138156203 138156203 single base substitution G A intron_variant SKCA-BR 7 138157714 138157714 single base substitution C T intron_variant SKCA-BR 7 138160050 138160050 single base substitution A T intron_variant SKCA-BR 7 138165720 138165720 single base substitution C T intron_variant SKCA-BR 7 138167589 138167589 single base substitution C T intron_variant SKCA-BR 7 138167858 138167858 single base substitution T G intron_variant SKCA-BR 7 138169902 138169902 single base substitution C T intron_variant SKCA-BR 7 138171801 138171801 single base substitution C T intron_variant SKCA-BR 7 138172262 138172262 single base substitution C T intron_variant SKCA-BR 7 138174701 138174701 single base substitution G C intron_variant SKCA-BR 7 138176125 138176125 single base substitution C T intron_variant SKCA-BR 7 138176899 138176899 single base substitution C T intron_variant SKCA-BR 7 138183735 138183735 single base substitution T A intron_variant SKCA-BR 7 138184048 138184048 single base substitution C G intron_variant SKCA-BR 7 138184092 138184092 single base substitution T C intron_variant SKCA-BR 7 138184999 138184999 single base substitution C T intron_variant SKCA-BR 7 138187179 138187179 single base substitution G A intron_variant SKCA-BR 7 138189189 138189194 deletion of <=200bp GCTCTT - intron_variant SKCA-BR 7 138189323 138189323 single base substitution T C intron_variant SKCA-BR 7 138189604 138189604 single base substitution T C intron_variant SKCA-BR 7 138191656 138191656 single base substitution G A intron_variant SKCA-BR 7 138193066 138193066 single base substitution T G intron_variant SKCA-BR 7 138193213 138193213 single base substitution T A intron_variant SKCA-BR 7 138193465 138193465 single base substitution C T intron_variant SKCA-BR 7 138195790 138195790 single base substitution C T intron_variant SKCA-BR 7 138195790 138195790 single base substitution C T upstream_gene_variant SKCA-BR 7 138196227 138196227 single base substitution A G intron_variant SKCA-BR 7 138196227 138196227 single base substitution A G upstream_gene_variant SKCA-BR 7 138200784 138200784 single base substitution C T downstream_gene_variant SKCA-BR 7 138200784 138200784 single base substitution C T intron_variant SKCA-BR 7 138201558 138201559 deletion of <=200bp GT - downstream_gene_variant SKCA-BR 7 138201558 138201559 deletion of <=200bp GT - intron_variant SKCA-BR 7 138203613 138203613 single base substitution C T downstream_gene_variant SKCA-BR 7 138203613 138203613 single base substitution C T intron_variant SKCA-BR 7 138209993 138209993 single base substitution T A exon_variant SKCA-BR 7 138209993 138209993 single base substitution T A missense_variant F258I 772T>A SKCA-BR 7 138217677 138217677 single base substitution C T intron_variant SKCA-BR 7 138222126 138222126 insertion of <=200bp - TTG intron_variant SKCA-BR 7 138223821 138223822 deletion of <=200bp CA - intron_variant SKCA-BR 7 138223824 138223824 single base substitution T C intron_variant SKCA-BR 7 138223879 138223879 single base substitution T A intron_variant SKCA-BR 7 138229908 138229908 insertion of <=200bp - CGTGT intron_variant SKCA-BR 7 138229908 138229908 insertion of <=200bp - CGT intron_variant SKCA-BR 7 138232511 138232511 single base substitution C T intron_variant SKCA-BR 7 138232677 138232677 single base substitution C T intron_variant SKCA-BR 7 138235529 138235529 single base substitution T A intron_variant SKCA-BR 7 138235529 138235529 single base substitution T A upstream_gene_variant SKCA-BR 7 138236166 138236166 single base substitution C T intron_variant SKCA-BR 7 138236166 138236166 single base substitution C T upstream_gene_variant SKCA-BR 7 138239021 138239021 single base substitution C T intron_variant SKCA-BR 7 138239021 138239021 single base substitution C T upstream_gene_variant SKCA-BR 7 138239838 138239838 single base substitution T G intron_variant SKCA-BR 7 138239840 138239840 single base substitution A G intron_variant SKCA-BR 7 138240340 138240340 single base substitution A G intron_variant SKCA-BR 7 138240719 138240719 single base substitution C T intron_variant SKCA-BR 7 138244440 138244440 single base substitution C T intron_variant SKCA-BR 7 138248884 138248884 single base substitution C T intron_variant SKCA-BR 7 138249255 138249255 single base substitution C T intron_variant SKCA-BR 7 138249750 138249750 single base substitution C T intron_variant SKCA-BR 7 138253129 138253129 single base substitution T G intron_variant SKCA-BR 7 138257205 138257246 deletion of <=200bp AAAATTCTTTCTGCTTTTTCCTCTGCAGTCCTCATACAGGTG - downstream_gene_variant SKCA-BR 7 138257205 138257246 deletion of <=200bp AAAATTCTTTCTGCTTTTTCCTCTGCAGTCCTCATACAGGTG - intron_variant SKCA-BR 7 138257264 138257264 single base substitution C T downstream_gene_variant SKCA-BR 7 138257264 138257264 single base substitution C T intron_variant SKCA-BR 7 138257893 138257893 single base substitution C T downstream_gene_variant SKCA-BR 7 138257893 138257893 single base substitution C T intron_variant SKCA-BR 7 138260204 138260204 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 7 138260204 138260204 insertion of <=200bp - AT intron_variant SKCA-BR 7 138266009 138266009 single base substitution C A intron_variant SKCA-BR 7 138268563 138268563 single base substitution A G intron_variant SKCA-BR 7 138273646 138273646 single base substitution G T 3_prime_UTR_variant SKCA-BR 7 138273646 138273646 single base substitution G T downstream_gene_variant SKCA-BR 7 138274397 138274397 single base substitution A C 3_prime_UTR_variant SKCA-BR 7 138274397 138274397 single base substitution A C downstream_gene_variant SKCA-BR 7 138276956 138276956 single base substitution T G downstream_gene_variant SKCA-BR 7 138278236 138278236 single base substitution C T downstream_gene_variant SKCA-BR 7 138279726 138279726 single base substitution C T downstream_gene_variant SKCM-US 7 138189046 138189046 single base substitution C T exon_variant SKCM-US 7 138189046 138189046 single base substitution C T missense_variant R126C 376C>T SKCM-US 7 138189106 138189106 single base substitution A C exon_variant SKCM-US 7 138189106 138189106 single base substitution A C missense_variant K146Q 436A>C SKCM-US 7 138235855 138235855 single base substitution C T exon_variant SKCM-US 7 138235855 138235855 single base substitution C T synonymous_variant S397S 1191C>T SKCM-US 7 138235855 138235855 single base substitution C T upstream_gene_variant SKCM-US 7 138235915 138235915 single base substitution C T exon_variant SKCM-US 7 138235915 138235915 single base substitution C T synonymous_variant I417I 1251C>T SKCM-US 7 138235915 138235915 single base substitution C T upstream_gene_variant SKCM-US 7 138239496 138239496 single base substitution C T exon_variant SKCM-US 7 138239496 138239496 single base substitution C T missense_variant P439S 1315C>T SKCM-US 7 138239496 138239496 single base substitution C T upstream_gene_variant SKCM-US 7 138239558 138239558 single base substitution C T exon_variant SKCM-US 7 138239558 138239558 single base substitution C T synonymous_variant F459F 1377C>T SKCM-US 7 138239559 138239559 single base substitution C T exon_variant SKCM-US 7 138239559 138239559 single base substitution C T missense_variant P460S 1378C>T SKCM-US 7 138239657 138239657 single base substitution T C exon_variant SKCM-US 7 138239657 138239657 single base substitution T C intron_variant SKCM-US 7 138239657 138239657 single base substitution T C synonymous_variant G492G 1476T>C SKCM-US 7 138252230 138252230 single base substitution C T exon_variant SKCM-US 7 138252230 138252230 single base substitution C T missense_variant P478L 1433C>T SKCM-US 7 138252230 138252230 single base substitution C T missense_variant P512L 1535C>T SKCM-US 7 138255624 138255624 single base substitution C T downstream_gene_variant SKCM-US 7 138255624 138255624 single base substitution C T exon_variant SKCM-US 7 138255624 138255624 single base substitution C T missense_variant S551F 1652C>T SKCM-US 7 138255624 138255624 single base substitution C T missense_variant S585F 1754C>T SKCM-US 7 138255744 138255744 single base substitution C T downstream_gene_variant SKCM-US 7 138255744 138255744 single base substitution C T exon_variant SKCM-US 7 138255744 138255744 single base substitution C T missense_variant P591L 1772C>T SKCM-US 7 138255744 138255744 single base substitution C T missense_variant P625L 1874C>T SKCM-US 7 138262304 138262304 single base substitution G A downstream_gene_variant SKCM-US 7 138262304 138262304 single base substitution G A missense_variant E709K 2125G>A SKCM-US 7 138262304 138262304 single base substitution G A missense_variant E743K 2227G>A SKCM-US 7 138263977 138263977 single base substitution C T missense_variant S728F 2183C>T SKCM-US 7 138263977 138263977 single base substitution C T missense_variant S762F 2285C>T SKCM-US 7 138264004 138264004 single base substitution C T missense_variant S737F 2210C>T SKCM-US 7 138264004 138264004 single base substitution C T missense_variant S771F 2312C>T SKCM-US 7 138264074 138264074 single base substitution G A synonymous_variant Q760Q 2280G>A SKCM-US 7 138264074 138264074 single base substitution G A synonymous_variant Q794Q 2382G>A SKCM-US 7 138264082 138264082 single base substitution C T missense_variant S763F 2288C>T SKCM-US 7 138264082 138264082 single base substitution C T missense_variant S797F 2390C>T SKCM-US 7 138268672 138268672 single base substitution C T synonymous_variant S923S 2769C>T SKCM-US 7 138268672 138268672 single base substitution C T synonymous_variant S957S 2871C>T SKCM-US 7 138269649 138269649 single base substitution C T missense_variant R1002W 3004C>T SKCM-US 7 138269649 138269649 single base substitution C T missense_variant R1036W 3106C>T STAD-US 7 138145487 138145487 single base substitution G A missense_variant S65N 194G>A STAD-US 7 138145487 138145487 single base substitution G A upstream_gene_variant STAD-US 7 138189060 138189060 single base substitution C T exon_variant STAD-US 7 138189060 138189060 single base substitution C T synonymous_variant C130C 390C>T STAD-US 7 138210040 138210040 single base substitution A G exon_variant STAD-US 7 138210040 138210040 single base substitution A G synonymous_variant L273L 819A>G STAD-US 7 138223421 138223421 single base substitution G A exon_variant STAD-US 7 138223421 138223421 single base substitution G A missense_variant R339H 1016G>A STAD-US 7 138239681 138239681 single base substitution G A exon_variant STAD-US 7 138239681 138239681 single base substitution G A intron_variant STAD-US 7 138239681 138239681 single base substitution G A synonymous_variant G500G 1500G>A STAD-US 7 138252371 138252371 single base substitution C T exon_variant STAD-US 7 138252371 138252371 single base substitution C T missense_variant A525V 1574C>T STAD-US 7 138252371 138252371 single base substitution C T missense_variant A559V 1676C>T STAD-US 7 138265374 138265374 single base substitution C T missense_variant P851S 2551C>T STAD-US 7 138265374 138265374 single base substitution C T missense_variant P885S 2653C>T STAD-US 7 138269538 138269538 single base substitution G A missense_variant E965K 2893G>A STAD-US 7 138269538 138269538 single base substitution G A missense_variant E999K 2995G>A STAD-US 7 138269680 138269680 single base substitution G A missense_variant R1012H 3035G>A STAD-US 7 138269680 138269680 single base substitution G A missense_variant R1046H 3137G>A THCA-US 7 138258373 138258373 single base substitution C T downstream_gene_variant THCA-US 7 138258373 138258373 single base substitution C T exon_variant THCA-US 7 138258373 138258373 single base substitution C T missense_variant S633F 1898C>T THCA-US 7 138258373 138258373 single base substitution C T missense_variant S667F 2000C>T UCEC-US 7 138239477 138239477 single base substitution A G exon_variant UCEC-US 7 138239477 138239477 single base substitution A G synonymous_variant P432P 1296A>G UCEC-US 7 138239477 138239477 single base substitution A G upstream_gene_variant UCEC-US 7 138239587 138239587 single base substitution G A exon_variant UCEC-US 7 138239587 138239587 single base substitution G A missense_variant R469Q 1406G>A UCEC-US 7 138255645 138255645 single base substitution C T downstream_gene_variant UCEC-US 7 138255645 138255645 single base substitution C T exon_variant UCEC-US 7 138255645 138255645 single base substitution C T missense_variant T558M 1673C>T UCEC-US 7 138255645 138255645 single base substitution C T missense_variant T592M 1775C>T UCEC-US 7 138261153 138261153 single base substitution C T downstream_gene_variant UCEC-US 7 138261153 138261153 single base substitution C T missense_variant R650C 1948C>T UCEC-US 7 138261153 138261153 single base substitution C T missense_variant R684C 2050C>T UCEC-US 7 138262238 138262238 single base substitution C T downstream_gene_variant UCEC-US 7 138262238 138262238 single base substitution C T stop_gained R687* 2059C>T UCEC-US 7 138262238 138262238 single base substitution C T stop_gained R721* 2161C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-06-0171 COSM35821 c.1172G>A p.R391H Substitution - Missense 7:138551091-138551091 + CSCC-47-T COSM1448359 c.1171C>T p.R391C Substitution - Missense 7:138551090-138551090 + CCC6 COSM3662942 c.1995G>A p.V665V Substitution - coding silent 7:138573623-138573623 + TCGA-BR-6452-01 COSM3878483 c.819A>G p.L273L Substitution - coding silent 7:138525295-138525295 + Pat_08_B COSM5871933 c.2683C>T p.P895S Substitution - Missense 7:138581763-138581763 + EWS834 COSM4587146 c.1703A>G p.Q568R Substitution - Missense 7:138567653-138567653 + SH-9771 COSM3762398 c.2487A>G p.G829G Substitution - coding silent 7:138580565-138580565 + ICGC_MB26 COSM216042 c.2126C>T p.T709I Substitution - Missense 7:138577458-138577458 + S02292 COSM5688139 c.1646G>T p.S549I Substitution - Missense 7:138570873-138570873 + HN_63115 COSM129886 c.808A>G p.I270V Substitution - Missense 7:138525284-138525284 + TCGA-EE-A3JD-06 COSM4393846 c.1191C>T p.S397S Substitution - coding silent 7:138551110-138551110 + TCGA-33-4583-01 COSM745475 c.1887A>G p.S629S Substitution - coding silent 7:138573617-138573617 + TCGA-A8-A07B-01 COSM452422 c.652C>T p.Q218* Substitution - Nonsense 7:138519209-138519209 + MB115PT COSM88016 c.3027G>T p.R1009S Substitution - Missense 7:138584825-138584825 + K20 COSM249225 c.3067A>C p.K1023Q Substitution - Missense 7:138584865-138584865 + TCGA-AP-A0LM-01 COSM1085992 c.1296A>G p.P432P Substitution - coding silent 7:138554732-138554732 + TCGA-EE-A3AA-06 COSM3633849 c.1377C>T p.F459F Substitution - coding silent 7:138554813-138554813 + SNU-175 COSM2859838 c.1152C>T p.Y384Y Substitution - coding silent 7:138551071-138551071 + YUKAT COSM5406605 c.632-1G>A p.? Unknown 7:138519188-138519188 + TCGA-ER-A3PL-06 COSM22381 c.2769C>T p.S923S Substitution - coding silent 7:138583927-138583927 + S00827 COSM316131 c.2458G>C p.V820L Substitution - Missense 7:138579507-138579507 + CPCG0006-F1 COSM3927846 c.1588C>A p.Q530K Substitution - Missense 7:138567640-138567640 + SH-2871 COSM3762397 c.2589A>G p.G863G Substitution - coding silent 7:138580565-138580565 + AOCS-139-19-0 COSM4153871 c.833T>A p.M278K Substitution - Missense 7:138525309-138525309 + TCGA-06-0171-02 COSM2150337 c.1172G>A p.R391H Substitution - Missense 7:138551091-138551091 + 61 COSM5738177 c.2609G>A p.C870Y Substitution - Missense 7:138580585-138580585 + ACINAR03 COSM1733224 c.2756_2758delAAG p.E920delE Deletion - In frame 7:138583914-138583916 + AGS COSM99026 c.1495C>T p.P499S Substitution - Missense 7:138567547-138567547 + TCGA-AX-A0J1-01 COSM1085997 c.1775C>T p.T592M Substitution - Missense 7:138570900-138570900 + HDC87 COSM4637167 c.1426C>T p.Q476* Substitution - Nonsense 7:138554862-138554862 + YUZEPO COSM1448360 c.1171C>T p.R391C Substitution - Missense 7:138551090-138551090 + TCGA-06-0171 COSM2150337 c.1172G>A p.R391H Substitution - Missense 7:138551091-138551091 + SH-1679 COSM3762397 c.2589A>G p.G863G Substitution - coding silent 7:138580565-138580565 + TCGA-BG-A0LX-01 COSM1086002 c.2212A>G p.T738A Substitution - Missense 7:138579261-138579261 + 43 COSM5734044 c.3088G>A p.D1030N Substitution - Missense 7:138584886-138584886 + TCGA-D7-A4YV-01 COSM3878497 c.3035G>A p.R1012H Substitution - Missense 7:138584935-138584935 + TCGA-29-2434-01 COSM1330046 c.2037A>C p.V679V Substitution - coding silent 7:138576395-138576395 + TCGA-CD-5813-01 COSM3878495 c.2893G>A p.E965K Substitution - Missense 7:138584793-138584793 + TCGA-AO-A128-01 COSM3831980 c.1598C>A p.P533H Substitution - Missense 7:138567548-138567548 + 24T COSM108000 c.2676G>A p.K892K Substitution - coding silent 7:138580652-138580652 + TCGA-ER-A194-01 COSM277800 c.376C>T p.R126C Substitution - Missense 7:138504301-138504301 + YUKAT COSM5406606 c.632-1G>A p.? Unknown 7:138519188-138519188 + CX-1 COSM2859912 c.2299A>G p.S767G Substitution - Missense 7:138579246-138579246 + TCGA-D7-8572-01 COSM3878493 c.2551C>T p.P851S Substitution - Missense 7:138580629-138580629 + S04-45633-TP COSM4992829 c.1594C>T p.P532S Substitution - Missense 7:138567544-138567544 + TCGA-AB-2979-03 COSM166852 c.2728C>T p.R910C Substitution - Missense 7:138581706-138581706 + HDC90 COSM4637511 c.1349G>T p.G450V Substitution - Missense 7:138554785-138554785 + PD0901a COSM20649 c.959T>C p.I320T Substitution - Missense 7:138529193-138529193 + LOVO COSM2859874 c.1494T>A p.P498P Substitution - coding silent 7:138567546-138567546 + Pat_53_B COSM5871930 c.1474C>T p.P492S Substitution - Missense 7:138567526-138567526 + TCGA-CG-4437-01 COSM3878490 c.1574C>T p.A525V Substitution - Missense 7:138567626-138567626 + AOCS-139-6-3 COSM4153871 c.833T>A p.M278K Substitution - Missense 7:138525309-138525309 + 39 COSM4777804 c.1213_1214insC p.Q405fs*5 Insertion - Frameshift 7:138551132-138551133 + KM12 COSM2859783 c.258G>A p.Q86Q Substitution - coding silent 7:138460806-138460806 + T3174 COSM4735984 c.508G>A p.A170T Substitution - Missense 7:138515236-138515236 + Pat_08_A COSM5871932 c.2785C>T p.P929S Substitution - Missense 7:138581763-138581763 + PCSI_0139_Pa_X COSM3381815 c.1413G>C p.Q471H Substitution - Missense 7:138554849-138554849 + TCGA-EE-A181-06 COSM3633846 c.436A>C p.K146Q Substitution - Missense 7:138504361-138504361 + HCC20T COSM1622397 c.2110G>A p.A704T Substitution - Missense 7:138577442-138577442 + HN_63115 COSM129885 c.808A>G p.I270V Substitution - Missense 7:138525284-138525284 + TCGA-EB-A41A-01 COSM3633861 c.2210C>T p.S737F Substitution - Missense 7:138579259-138579259 + 35M COSM5582850 c.2423C>T p.S808F Substitution - Missense 7:138579370-138579370 + T3503 COSM4735987 c.835_836insA p.T281fs*17 Insertion - Frameshift 7:138525311-138525312 + LUAD-NYU696 COSM376123 c.1976G>T p.S659I Substitution - Missense 7:138576436-138576436 + TCGA-D3-A1QA-06 COSM3633852 c.1378C>T p.P460S Substitution - Missense 7:138554814-138554814 + TCGA-AP-A0LM-01 COSM1086000 c.1948C>T p.R650C Substitution - Missense 7:138576408-138576408 + CCC6T COSM3662942 c.1995G>A p.V665V Substitution - coding silent 7:138573623-138573623 + TARGET-20-PASBBE-04A-02D COSM5487571 c.2729G>T p.R910L Substitution - Missense 7:138581707-138581707 + ESOSCC156T COSM1173291 c.1718G>T p.S573I Substitution - Missense 7:138570843-138570843 + TCGA-G4-6628-01 COSM1448354 c.655C>T p.R219* Substitution - Nonsense 7:138519212-138519212 + CSCC-45-T COSM4547900 c.433G>T p.V145L Substitution - Missense 7:138504358-138504358 + TCGA-EE-A3AH-06 COSM1699411 c.1315C>T p.P439S Substitution - Missense 7:138554751-138554751 + LUAD-B01811 COSM334758 c.676C>G p.H226D Substitution - Missense 7:138519233-138519233 + TCGA-B4-5844-01 COSM1496504 c.2733G>C p.L911F Substitution - Missense 7:138583891-138583891 + YUZEPO COSM1448359 c.1171C>T p.R391C Substitution - Missense 7:138551090-138551090 + HCC20 COSM1622397 c.2110G>A p.A704T Substitution - Missense 7:138577442-138577442 + SH-3458 COSM3762397 c.2589A>G p.G863G Substitution - coding silent 7:138580565-138580565 + TCGA-DY-A1DC-01 COSM1568608 c.2155C>T p.P719S Substitution - Missense 7:138577487-138577487 + HCC2998 COSM168759 c.2161C>T p.R721* Substitution - Nonsense 7:138577493-138577493 + HCC1395 COSM22381 c.2769C>T p.S923S Substitution - coding silent 7:138583927-138583927 + TCGA-13-1482-01 COSM76814 c.3006G>C p.K1002N Substitution - Missense 7:138584804-138584804 + 189T COSM5576172 c.706G>C p.E236Q Substitution - Missense 7:138519263-138519263 + TCGA-HT-7688-01 COSM3928840 c.2830G>A p.E944K Substitution - Missense 7:138583988-138583988 + TCGA-EE-A2GR-06 COSM3633866 c.3106C>T p.R1036W Substitution - Missense 7:138584904-138584904 + TCGA-D1-A103-01 COSM1085994 c.1406G>A p.R469Q Substitution - Missense 7:138554842-138554842 + S04-45633-TP COSM4992835 c.1905G>A p.L635L Substitution - coding silent 7:138573533-138573533 + PCSI_0093_Pa_X COSM166852 c.2728C>T p.R910C Substitution - Missense 7:138581706-138581706 + ESCC-003T COSM3942055 c.1985G>A p.S662N Substitution - Missense 7:138576445-138576445 + HCC008T COSM5807416 c.2739A>G p.L913L Substitution - coding silent 7:138581717-138581717 + TCGA-EE-A2GC-06 COSM3633859 c.2183C>T p.S728F Substitution - Missense 7:138579232-138579232 + TCGA-EL-A4KG-01 COSM3374504 c.2000C>T p.S667F Substitution - Missense 7:138573628-138573628 + LUAD-NYU259 COSM372007 c.1583G>A p.G528E Substitution - Missense 7:138567533-138567533 + HCC76 COSM3662945 c.2479C>G p.P827A Substitution - Missense 7:138579528-138579528 + SWE-25 COSM1179206 c.2502C>T p.N834N Substitution - coding silent 7:138579449-138579449 + LS180 COSM2859907 c.2150delA p.N718fs*14 Deletion - Frameshift 7:138577584-138577584 + S03-26121-TP COSM4992839 c.2940T>C p.N980N Substitution - coding silent 7:138583996-138583996 + TCGA-AH-6897-01 COSM166852 c.2728C>T p.R910C Substitution - Missense 7:138581706-138581706 + HCC98T COSM3662940 c.1879-2A>T p.? Unknown 7:138573505-138573505 + PTC-7C COSM4161823 c.26T>G p.V9G Substitution - Missense 7:138460574-138460574 + AGS COSM99027 c.1597C>T p.P533S Substitution - Missense 7:138567547-138567547 + TCGA-22-5477-01 COSM745471 c.2581G>A p.E861K Substitution - Missense 7:138580659-138580659 + T3080 COSM4735993 c.1509G>C p.Q503H Substitution - Missense 7:138554945-138554945 + LUAD-NYU696 COSM376122 c.2078G>T p.S693I Substitution - Missense 7:138576436-138576436 + TCGA-EE-A181-06 COSM3633845 c.436A>C p.K146Q Substitution - Missense 7:138504361-138504361 + SNU-175 COSM2859837 c.1152C>T p.Y384Y Substitution - coding silent 7:138551071-138551071 + LUAD-QCHM7 COSM377296 c.2719-1G>C p.? Unknown 7:138581696-138581696 + cSCCP6 COSM136637 c.574C>T p.Q192* Substitution - Nonsense 7:138515302-138515302 + HCC2998 COSM1673582 c.2804T>G p.F935C Substitution - Missense 7:138583962-138583962 + CPCG0006-F1 COSM3927845 c.1690C>A p.Q564K Substitution - Missense 7:138567640-138567640 + TCGA-CA-6718-01 COSM1448350 c.641G>T p.G214V Substitution - Missense 7:138519198-138519198 + TCGA-D1-A103-01 COSM1085995 c.1406G>A p.R469Q Substitution - Missense 7:138554842-138554842 + SC_9047 COSM5560509 c.1494G>T p.M498I Substitution - Missense 7:138554930-138554930 + SH-7282 COSM3762398 c.2487A>G p.G829G Substitution - coding silent 7:138580565-138580565 + TCGA-CA-6718-01 COSM1448351 c.641G>T p.G214V Substitution - Missense 7:138519198-138519198 + TCGA-FW-A3R5-06 COSM2859867 c.1535C>T p.P512L Substitution - Missense 7:138567485-138567485 + LS174T COSM2859906 c.2252delA p.N752fs*14 Deletion - Frameshift 7:138577584-138577584 + PD4137a COSM165125 c.2505C>G p.F835L Substitution - Missense 7:138580583-138580583 + TCGA-AO-A128-01 COSM3831981 c.1496C>A p.P499H Substitution - Missense 7:138567548-138567548 + sysucc-1163T COSM5459296 c.1740A>G p.P580P Substitution - coding silent 7:138570967-138570967 + SH-3133 COSM3762397 c.2589A>G p.G863G Substitution - coding silent 7:138580565-138580565 + sysucc-274T COSM5476733 c.2082A>G p.R694R Substitution - coding silent 7:138576440-138576440 + MB115PT COSM88015 c.2925G>T p.R975S Substitution - Missense 7:138584825-138584825 + HCC98T COSM3662941 c.1777-2A>T p.? Unknown 7:138573505-138573505 + TCGA-AP-A0LM-01 COSM1085991 c.1296A>G p.P432P Substitution - coding silent 7:138554732-138554732 + HCC051T COSM5820728 c.1974C>G p.V658V Substitution - coding silent 7:138573602-138573602 + Pat_53_A COSM5871929 c.1576C>T p.P526S Substitution - Missense 7:138567526-138567526 + PT24_1 COSM5904304 c.1085T>A p.F362Y Substitution - Missense 7:138538745-138538745 + EWS502 COSM4587150 c.2568A>G p.E856E Substitution - coding silent 7:138580646-138580646 + CSCC-31-T COSM4508253 c.769C>T p.Q257* Substitution - Nonsense 7:138525245-138525245 + T578 COSM4735989 c.1265C>A p.S422Y Substitution - Missense 7:138554701-138554701 + 7T COSM5575639 c.1927A>G p.T643A Substitution - Missense 7:138573555-138573555 + T2269 COSM168759 c.2161C>T p.R721* Substitution - Nonsense 7:138577493-138577493 + HN_62421 COSM129888 c.2320G>C p.E774Q Substitution - Missense 7:138579267-138579267 + SH-7282 COSM5020669 c.2266C>T p.P756S Substitution - Missense 7:138579213-138579213 + TCGA-EB-A430-01 COSM3633864 c.2390C>T p.S797F Substitution - Missense 7:138579337-138579337 + TCGA-EE-A2MR-06 COSM3633855 c.1652C>T p.S551F Substitution - Missense 7:138570879-138570879 + HCC2998 COSM168758 c.2059C>T p.R687* Substitution - Nonsense 7:138577493-138577493 + HN_62421 COSM129887 c.2218G>C p.E740Q Substitution - Missense 7:138579267-138579267 + TCGA-AA-A02W-01 COSM287590 c.3002C>T p.P1001L Substitution - Missense 7:138584902-138584902 + TCGA-EE-A3AF-06 COSM745476 c.1874C>T p.P625L Substitution - Missense 7:138570999-138570999 + TCGA-AA-3833-01 COSM271571 c.2531G>A p.C844Y Substitution - Missense 7:138579478-138579478 + ACINAR03 COSM1733223 c.2858_2860delAAG p.E954delE Deletion - In frame 7:138583914-138583916 + TCGA-AP-A0LM-01 COSM1085999 c.2050C>T p.R684C Substitution - Missense 7:138576408-138576408 + cSCCP6 COSM136636 c.574C>T p.Q192* Substitution - Nonsense 7:138515302-138515302 + TCGA-B8-4153-01 COSM484896 c.1661A>C p.N554T Substitution - Missense 7:138567611-138567611 + TCGA-EE-A3AF-06 COSM745477 c.1772C>T p.P591L Substitution - Missense 7:138570999-138570999 + TCGA-B8-5553-01 COSM3366798 c.3039G>C p.Q1013H Substitution - Missense 7:138584939-138584939 + HCC112T COSM5818667 c.2859A>G p.Q953Q Substitution - coding silent 7:138583915-138583915 + EW8 COSM2859780 c.150C>G p.L50L Substitution - coding silent 7:138460698-138460698 + TCGA-BH-A0AY-01 COSM452418 c.404C>G p.A135G Substitution - Missense 7:138504329-138504329 + Pat_08_B COSM5871932 c.2785C>T p.P929S Substitution - Missense 7:138581763-138581763 + TCGA-29-2434-01 COSM1330047 c.1935A>C p.V645V Substitution - coding silent 7:138576395-138576395 + LS174T COSM2859907 c.2150delA p.N718fs*14 Deletion - Frameshift 7:138577584-138577584 + S03-09436-TP COSM4992833 c.1562C>T p.P521L Substitution - Missense 7:138567614-138567614 + HDC87 COSM4637168 c.1426C>T p.Q476* Substitution - Nonsense 7:138554862-138554862 + HCC061T COSM5805777 c.1434G>A p.P478P Substitution - coding silent 7:138567486-138567486 + TCGA-D3-A1QA-06 COSM3633851 c.1378C>T p.P460S Substitution - Missense 7:138554814-138554814 + TCGA-FW-A3R5-06 COSM3922783 c.1251C>T p.I417I Substitution - coding silent 7:138551170-138551170 + LS411 COSM2859870 c.1568G>A p.S523N Substitution - Missense 7:138567518-138567518 + CSCC-45-T COSM4554358 c.619G>A p.E207K Substitution - Missense 7:138515347-138515347 + CSCC-47-T COSM1448360 c.1171C>T p.R391C Substitution - Missense 7:138551090-138551090 + ICGC_MB26 COSM216041 c.2024C>T p.T675I Substitution - Missense 7:138577458-138577458 + TARGET-20-PASBBE-09A-01D COSM5487571 c.2729G>T p.R910L Substitution - Missense 7:138581707-138581707 + TCGA-B0-4712-01 COSM484900 c.2485G>T p.G829* Substitution - Nonsense 7:138580563-138580563 + TCGA-AH-6897-01 COSM166851 c.2626C>T p.R876C Substitution - Missense 7:138581706-138581706 + LUAD-B01811 COSM334759 c.676C>G p.H226D Substitution - Missense 7:138519233-138519233 + 46M COSM5020670 c.2164C>T p.P722S Substitution - Missense 7:138579213-138579213 + HCC2998 COSM1673581 c.2906T>G p.F969C Substitution - Missense 7:138583962-138583962 + TCGA-G4-6628-01 COSM1448353 c.655C>T p.R219* Substitution - Nonsense 7:138519212-138519212 + SNU-C2B COSM2859924 c.2669delA p.K892fs*9 Deletion - Frameshift 7:138580645-138580645 + ID21 COSM1166732 c.2754T>A p.H918Q Substitution - Missense 7:138581732-138581732 + TCGA-B4-5844-01 COSM1496503 c.2835G>C p.L945F Substitution - Missense 7:138583891-138583891 + BD197T COSM3662943 c.1893G>A p.V631V Substitution - coding silent 7:138573623-138573623 + T3079 COSM4735994 c.3019_3020insA p.R1009fs*10 Insertion - Frameshift 7:138584817-138584818 + PD4874a COSM5787755 c.1705-10G>A p.? Unknown 7:138570820-138570820 + TCGA-33-4583-01 COSM745474 c.1989A>G p.S663S Substitution - coding silent 7:138573617-138573617 + TCGA-AA-A02W-01 COSM287591 c.3104C>T p.P1035L Substitution - Missense 7:138584902-138584902 + TCGA-EB-A430-01 COSM3633865 c.2288C>T p.S763F Substitution - Missense 7:138579337-138579337 + TCGA-D7-A4YV-01 COSM3878496 c.3137G>A p.R1046H Substitution - Missense 7:138584935-138584935 + Pat_44_B COSM5871927 c.1068G>T p.L356F Substitution - Missense 7:138538728-138538728 + TCGA-CG-5726-01 COSM3878477 c.194G>A p.S65N Substitution - Missense 7:138460742-138460742 + TCGA-CG-4437-01 COSM3878489 c.1676C>T p.A559V Substitution - Missense 7:138567626-138567626 + 587238 COSM1181037 c.2429_2430insC p.K812fs*30 Insertion - Frameshift 7:138579478-138579479 + CCC6 COSM3662943 c.1893G>A p.V631V Substitution - coding silent 7:138573623-138573623 + SH-2871 COSM5019656 c.2823C>T p.N941N Substitution - coding silent 7:138583981-138583981 + PD11372a COSM5767156 c.102G>C p.E34D Substitution - Missense 7:138460650-138460650 + 1078-01-03TD COSM5416902 c.662T>C p.V221A Substitution - Missense 7:138519219-138519219 + HCC1395 COSM22381 c.2769C>T p.S923S Substitution - coding silent 7:138583927-138583927 + Pat_53_A COSM5871930 c.1474C>T p.P492S Substitution - Missense 7:138567526-138567526 + SH-9161 COSM3762397 c.2589A>G p.G863G Substitution - coding silent 7:138580565-138580565 + YUPROST COSM1699411 c.1315C>T p.P439S Substitution - Missense 7:138554751-138554751 + TCGA-EE-A2A1-06 COSM3633852 c.1378C>T p.P460S Substitution - Missense 7:138554814-138554814 + TCGA-CA-6718-01 COSM1448356 c.1015C>T p.R339C Substitution - Missense 7:138538675-138538675 + K20-Tumor COSM249224 c.2965A>C p.K989Q Substitution - Missense 7:138584865-138584865 + PASFXA COSM5006101 c.507_508insA p.A170fs*12 Insertion - Frameshift 7:138515235-138515236 + LS411 COSM2859871 c.1466G>A p.S489N Substitution - Missense 7:138567518-138567518 + 1N31-VS-1T31 COSM4974439 c.2968G>A p.G990S Substitution - Missense 7:138584766-138584766 + TCGA-GN-A269-01 COSM3633863 c.2280G>A p.Q760Q Substitution - coding silent 7:138579329-138579329 + XHDG20 COSM4768836 c.3003C>T p.P1001P Substitution - coding silent 7:138584903-138584903 + S04-45633-TP COSM4992830 c.1492C>T p.P498S Substitution - Missense 7:138567544-138567544 + HCC1 COSM1622394 c.329C>T p.S110L Substitution - Missense 7:138460877-138460877 + SNU-175 COSM2859923 c.2549C>A p.A850D Substitution - Missense 7:138580627-138580627 + PT34 COSM2859790 c.365-5C>T p.? Unknown 7:138504285-138504285 + TCGA-D3-A3C7-06 COSM3633856 c.2227G>A p.E743K Substitution - Missense 7:138577559-138577559 + I2L-P19Ta-Tumor-Biopsy COSM5358111 c.767A>G p.Y256C Substitution - Missense 7:138525243-138525243 + HCC76T COSM3662944 c.2581C>G p.P861A Substitution - Missense 7:138579528-138579528 + PD18024a COSM5777256 c.1416T>C p.H472H Substitution - coding silent 7:138554852-138554852 + I2L-P19Ta-Tumor-Organoid COSM5358111 c.767A>G p.Y256C Substitution - Missense 7:138525243-138525243 + TCGA-EJ-7794-01 COSM1471942 c.117G>A p.P39P Substitution - coding silent 7:138460665-138460665 + T3174 COSM4735983 c.508G>A p.A170T Substitution - Missense 7:138515236-138515236 + PD4137a COSM165126 c.2607C>G p.F869L Substitution - Missense 7:138580583-138580583 + T3079 COSM4735995 c.2917_2918insA p.R975fs*10 Insertion - Frameshift 7:138584817-138584818 + AML33 COSM166852 c.2728C>T p.R910C Substitution - Missense 7:138581706-138581706 + Au4 COSM5605179 c.2469G>A p.L823L Substitution - coding silent 7:138579518-138579518 + 24T COSM107999 c.2574G>A p.K858K Substitution - coding silent 7:138580652-138580652 + TCGA-AD-5900-01 COSM1448371 c.1339C>T p.P447S Substitution - Missense 7:138554775-138554775 + CX-1 COSM2859913 c.2197A>G p.S733G Substitution - Missense 7:138579246-138579246 + Pat_08_A COSM5871933 c.2683C>T p.P895S Substitution - Missense 7:138581763-138581763 + 108402 COSM95399 c.2119G>C p.D707H Substitution - Missense 7:138577451-138577451 + TCGA-FW-A3R5-06 COSM2859868 c.1433C>T p.P478L Substitution - Missense 7:138567485-138567485 + HCC98 COSM3662941 c.1777-2A>T p.? Unknown 7:138573505-138573505 + TCGA-DW-7837-01 COSM3995374 c.141G>A p.A47A Substitution - coding silent 7:138460689-138460689 + MD-286 COSM303446 c.1461G>C p.R487S Substitution - Missense 7:138554897-138554897 + 61 COSM5738178 c.2507G>A p.C836Y Substitution - Missense 7:138580585-138580585 + Pat_44_B COSM5871926 c.1068G>T p.L356F Substitution - Missense 7:138538728-138538728 + TCGA-60-2722-01 COSM745476 c.1874C>T p.P625L Substitution - Missense 7:138570999-138570999 + S00827 COSM316132 c.2560G>C p.V854L Substitution - Missense 7:138579507-138579507 + TCGA-EE-A3JD-06 COSM4393845 c.1191C>T p.S397S Substitution - coding silent 7:138551110-138551110 + PASFXA COSM5006100 c.507_508insA p.A170fs*12 Insertion - Frameshift 7:138515235-138515236 + 587376 COSM1230306 c.623T>C p.V208A Substitution - Missense 7:138515351-138515351 + PARPRW COSM5005771 c.1056C>G p.L352L Substitution - coding silent 7:138538716-138538716 + HN_63021 COSM129890 c.3029T>G p.F1010C Substitution - Missense 7:138584827-138584827 + GB02 COSM1744615 c.903T>C p.N301N Substitution - coding silent 7:138529137-138529137 + HCC1 COSM1622393 c.329C>T p.S110L Substitution - Missense 7:138460877-138460877 + TCGA-EE-A3AA-06 COSM3633848 c.1377C>T p.F459F Substitution - coding silent 7:138554813-138554813 + SH-3133 COSM3762398 c.2487A>G p.G829G Substitution - coding silent 7:138580565-138580565 + TCGA-D8-A1J8-01 COSM3831985 c.3127A>G p.I1043V Substitution - Missense 7:138584925-138584925 + HCC061T COSM5805776 c.1536G>A p.P512P Substitution - coding silent 7:138567486-138567486 + TCGA-EE-A2MR-06 COSM3633854 c.1754C>T p.S585F Substitution - Missense 7:138570879-138570879 + SH-7282 COSM3762397 c.2589A>G p.G863G Substitution - coding silent 7:138580565-138580565 + TCGA-BR-8680-01 COSM3878486 c.1016G>A p.R339H Substitution - Missense 7:138538676-138538676 + PT24_1 COSM5904303 c.1085T>A p.F362Y Substitution - Missense 7:138538745-138538745 + UPCI:SCC090 COSM2859865 c.1492A>C p.M498L Substitution - Missense 7:138554928-138554928 + TCGA-AA-A00N-01 COSM277800 c.376C>T p.R126C Substitution - Missense 7:138504301-138504301 + 46T COSM3715611 c.2615G>A p.R872K Substitution - Missense 7:138580693-138580693 + 1N31-VS-1T31 COSM4974440 c.2866G>A p.G956S Substitution - Missense 7:138584766-138584766 + NYU1162 COSM4770776 c.2953_2956delTCAG p.S985fs*>31 Deletion - Frameshift 7:138584853-138584856 + TCGA-EL-A4KG-01 COSM3374505 c.1898C>T p.S633F Substitution - Missense 7:138573628-138573628 + TCGA-D8-A1XK-01 COSM3831978 c.794A>T p.N265I Substitution - Missense 7:138525270-138525270 + 35M COSM4992829 c.1594C>T p.P532S Substitution - Missense 7:138567544-138567544 + HCT116 COSM2859867 c.1535C>T p.P512L Substitution - Missense 7:138567485-138567485 + PD11372a COSM5767157 c.102G>C p.E34D Substitution - Missense 7:138460650-138460650 + YUAVEY COSM1699408 c.1248T>A p.N416K Substitution - Missense 7:138551167-138551167 + HCC20 COSM1622398 c.2008G>A p.A670T Substitution - Missense 7:138577442-138577442 + PCSI_0093_Pa_X COSM166851 c.2626C>T p.R876C Substitution - Missense 7:138581706-138581706 + K20 COSM249224 c.2965A>C p.K989Q Substitution - Missense 7:138584865-138584865 + K20-Tumor COSM249225 c.3067A>C p.K1023Q Substitution - Missense 7:138584865-138584865 + BD197T COSM3662942 c.1995G>A p.V665V Substitution - coding silent 7:138573623-138573623 + S02292 COSM5688138 c.1748G>T p.S583I Substitution - Missense 7:138570873-138570873 + CN-AML-07-T COSM5428709 c.276C>A p.P92P Substitution - coding silent 7:138460824-138460824 + PCSI_0338_Pa_P_526 COSM4807121 c.374T>C p.I125T Substitution - Missense 7:138504299-138504299 + 39 COSM4777803 c.1213_1214insC p.Q405fs*5 Insertion - Frameshift 7:138551132-138551133 + LUAD-RT-S01477 COSM377732 c.532G>C p.E178Q Substitution - Missense 7:138515260-138515260 + HCC2998 COSM1673582 c.2804T>G p.F935C Substitution - Missense 7:138583962-138583962 + T3021 COSM4735992 c.1455A>G p.Q485Q Substitution - coding silent 7:138554891-138554891 + TCGA-A8-A07B-01 COSM452421 c.652C>T p.Q218* Substitution - Nonsense 7:138519209-138519209 + HCC123T COSM5816925 c.368G>A p.G123E Substitution - Missense 7:138504293-138504293 + 108402 COSM95398 c.2017G>C p.D673H Substitution - Missense 7:138577451-138577451 + TCGA-AH-6897-01 COSM4735994 c.3019_3020insA p.R1009fs*10 Insertion - Frameshift 7:138584817-138584818 + NYU1162 COSM4770775 c.3055_3058delTCAG p.S1019fs*>31 Deletion - Frameshift 7:138584853-138584856 + 35M COSM5582851 c.2321C>T p.S774F Substitution - Missense 7:138579370-138579370 + HCC20T COSM1622398 c.2008G>A p.A670T Substitution - Missense 7:138577442-138577442 + PT34 COSM2859789 c.365-5C>T p.? Unknown 7:138504285-138504285 + TCGA-CA-6718-01 COSM1448357 c.1015C>T p.R339C Substitution - Missense 7:138538675-138538675 + 0014_CRUK_PC_0014_T1_DNA COSM5422922 c.2764T>G p.Y922D Substitution - Missense 7:138583922-138583922 + S01023 COSM5666745 c.517A>C p.N173H Substitution - Missense 7:138515245-138515245 + I2L-P19Ta-Tumor-Biopsy COSM5358112 c.767A>G p.Y256C Substitution - Missense 7:138525243-138525243 + TCGA-13-1482-01 COSM76813 c.2904G>C p.K968N Substitution - Missense 7:138584804-138584804 + PD11327a COSM5786129 c.457A>T p.S153C Substitution - Missense 7:138504382-138504382 + TCGA-CD-5813-01 COSM3878494 c.2995G>A p.E999K Substitution - Missense 7:138584793-138584793 + 427 COSM4433138 c.2530T>C p.C844R Substitution - Missense 7:138579477-138579477 + SWE-25 COSM1179207 c.2400C>T p.N800N Substitution - coding silent 7:138579449-138579449 + XHDG20 COSM4768835 c.3105C>T p.P1035P Substitution - coding silent 7:138584903-138584903 + TCGA-EB-A41A-01 COSM3633860 c.2312C>T p.S771F Substitution - Missense 7:138579259-138579259 + TCGA-AD-5900-01 COSM1448372 c.1339C>T p.P447S Substitution - Missense 7:138554775-138554775 + ID21 COSM1166733 c.2652T>A p.H884Q Substitution - Missense 7:138581732-138581732 + YUDAB COSM1699415 c.1334C>T p.S445L Substitution - Missense 7:138554770-138554770 + EWS834 COSM4587147 c.1601A>G p.Q534R Substitution - Missense 7:138567653-138567653 + J32_T COSM3950012 c.1481C>G p.P494R Substitution - Missense 7:138554917-138554917 + 134413 COSM326754 c.706G>A p.E236K Substitution - Missense 7:138519263-138519263 + 587238 COSM1181036 c.2531_2532insC p.K846fs*30 Insertion - Frameshift 7:138579478-138579479 + SH-9161 COSM3762398 c.2487A>G p.G829G Substitution - coding silent 7:138580565-138580565 + TCGA-EE-A2GC-06 COSM3633858 c.2285C>T p.S762F Substitution - Missense 7:138579232-138579232 + TARGET-20-PASBBE-04A-02D COSM5487572 c.2627G>T p.R876L Substitution - Missense 7:138581707-138581707 + SNU-C2B COSM2859925 c.2567delA p.K858fs*9 Deletion - Frameshift 7:138580645-138580645 + S08-7608-TP COSM4992837 c.2760G>C p.M920I Substitution - Missense 7:138581738-138581738 + sysucc-274T COSM5476734 c.1980A>G p.R660R Substitution - coding silent 7:138576440-138576440 + PD4874a COSM5787756 c.1603-10G>A p.? Unknown 7:138570820-138570820 + LOVO COSM2859873 c.1596T>A p.P532P Substitution - coding silent 7:138567546-138567546 + 2_PRE-TREATMENT COSM1722843 c.1938delC p.P648fs*41 Deletion - Frameshift 7:138576398-138576398 + YUAVEY COSM1699409 c.1248T>A p.N416K Substitution - Missense 7:138551167-138551167 + S04-45633-TP COSM4992836 c.1803G>A p.L601L Substitution - coding silent 7:138573533-138573533 + CSCC-31-T COSM4508252 c.769C>T p.Q257* Substitution - Nonsense 7:138525245-138525245 + CSCC-47-T COSM4538131 c.2402G>A p.G801E Substitution - Missense 7:138579451-138579451 + 46M COSM5020669 c.2266C>T p.P756S Substitution - Missense 7:138579213-138579213 + HCC1395 COSM24028 c.2871C>T p.S957S Substitution - coding silent 7:138583927-138583927 + I2L-P19Ta-Tumor-Organoid COSM5358112 c.767A>G p.Y256C Substitution - Missense 7:138525243-138525243 + ESOSCC156T COSM1173292 c.1616G>T p.S539I Substitution - Missense 7:138570843-138570843 + TARGET-20-PASBBE-09A-01D COSM5487572 c.2627G>T p.R876L Substitution - Missense 7:138581707-138581707 + HCC76 COSM3662944 c.2581C>G p.P861A Substitution - Missense 7:138579528-138579528 + HCC008T COSM5807417 c.2637A>G p.L879L Substitution - coding silent 7:138581717-138581717 + EWS502 COSM4587149 c.2670A>G p.E890E Substitution - coding silent 7:138580646-138580646 + SH-7282 COSM5020670 c.2164C>T p.P722S Substitution - Missense 7:138579213-138579213 + TCGA-CG-4305-01 COSM3878479 c.390C>T p.C130C Substitution - coding silent 7:138504315-138504315 + T2269 COSM168758 c.2059C>T p.R687* Substitution - Nonsense 7:138577493-138577493 + CN-AML-NR-07-Dx COSM5428709 c.276C>A p.P92P Substitution - coding silent 7:138460824-138460824 + 134413 COSM326753 c.706G>A p.E236K Substitution - Missense 7:138519263-138519263 + 46T COSM3715610 c.2717G>A p.R906K Substitution - Missense 7:138580693-138580693 + 427 COSM4433139 c.2428T>C p.C810R Substitution - Missense 7:138579477-138579477 + GB02 COSM1744614 c.903T>C p.N301N Substitution - coding silent 7:138529137-138529137 + TCGA-AA-A00N-01 COSM277801 c.376C>T p.R126C Substitution - Missense 7:138504301-138504301 + 7T COSM5575640 c.1825A>G p.T609A Substitution - Missense 7:138573555-138573555 + TCGA-60-2722-01 COSM745477 c.1772C>T p.P591L Substitution - Missense 7:138570999-138570999 + YUDAB COSM1699414 c.1334C>T p.S445L Substitution - Missense 7:138554770-138554770 + OSCC-GB_00460111 COSM3715611 c.2615G>A p.R872K Substitution - Missense 7:138580693-138580693 + 2_PRE-TREATMENT COSM1722842 c.2040delC p.P682fs*41 Deletion - Frameshift 7:138576398-138576398 + TCGA-EE-A3AH-06 COSM1699412 c.1315C>T p.P439S Substitution - Missense 7:138554751-138554751 + 49M COSM5593574 c.2603C>T p.P868L Substitution - Missense 7:138580681-138580681 + TCGA-BR-8680-01 COSM3878485 c.1016G>A p.R339H Substitution - Missense 7:138538676-138538676 + 1078-01-03TD COSM5416901 c.662T>C p.V221A Substitution - Missense 7:138519219-138519219 + HDC90 COSM4637510 c.1349G>T p.G450V Substitution - Missense 7:138554785-138554785 + S03-26121-TP COSM4992840 c.2838T>C p.N946N Substitution - coding silent 7:138583996-138583996 + S00827 COSM316131 c.2458G>C p.V820L Substitution - Missense 7:138579507-138579507 + LUAD-RT-S01477 COSM377731 c.532G>C p.E178Q Substitution - Missense 7:138515260-138515260 + TCGA-CA-6718-01 COSM168758 c.2059C>T p.R687* Substitution - Nonsense 7:138577493-138577493 + TCGA-HU-A4GQ-01 COSM3878488 c.1500G>A p.G500G Substitution - coding silent 7:138554936-138554936 + AOCS-139-19-0 COSM4153870 c.833T>A p.M278K Substitution - Missense 7:138525309-138525309 + ESCC_BICR_061T COSM5430871 c.2478G>A p.E826E Substitution - coding silent 7:138579425-138579425 + Au4 COSM5605178 c.2571G>A p.L857L Substitution - coding silent 7:138579518-138579518 + TCGA-CG-4305-01 COSM3878480 c.390C>T p.C130C Substitution - coding silent 7:138504315-138504315 + CN-AML-07-T COSM5428708 c.276C>A p.P92P Substitution - coding silent 7:138460824-138460824 + Pat_44_B COSM3878496 c.3137G>A p.R1046H Substitution - Missense 7:138584935-138584935 + ESCC_96 COSM5637705 c.1531-1G>T p.? Unknown 7:138567480-138567480 + ccRCC-94 COSM1664677 c.475T>A p.S159T Substitution - Missense 7:138504400-138504400 + TCGA-AB-2979-03 COSM166851 c.2626C>T p.R876C Substitution - Missense 7:138581706-138581706 + TCGA-HT-7688-01 COSM3928839 c.2932G>A p.E978K Substitution - Missense 7:138583988-138583988 + HCA7 COSM4631180 c.2508C>T p.C836C Substitution - coding silent 7:138580586-138580586 + SH-9771 COSM3762397 c.2589A>G p.G863G Substitution - coding silent 7:138580565-138580565 + S00827 COSM316132 c.2560G>C p.V854L Substitution - Missense 7:138579507-138579507 + TCGA-DY-A1DC-01 COSM1568609 c.2053C>T p.P685S Substitution - Missense 7:138577487-138577487 + C0012T COSM4155426 c.1844T>A p.V615E Substitution - Missense 7:138570969-138570969 + S08-7608-TP COSM4992838 c.2658G>C p.M886I Substitution - Missense 7:138581738-138581738 + sysucc-1317T COSM3878486 c.1016G>A p.R339H Substitution - Missense 7:138538676-138538676 + TCGA-AM-5821-01 COSM3762398 c.2487A>G p.G829G Substitution - coding silent 7:138580565-138580565 + LUAD-NYU259 COSM372008 c.1481G>A p.G494E Substitution - Missense 7:138567533-138567533 + TCGA-AX-A0J0-01 COSM168758 c.2059C>T p.R687* Substitution - Nonsense 7:138577493-138577493 + 2341098 COSM484897 c.1559A>C p.N520T Substitution - Missense 7:138567611-138567611 + PD18024a COSM5777255 c.1416T>C p.H472H Substitution - coding silent 7:138554852-138554852 + SH-2871 COSM3762398 c.2487A>G p.G829G Substitution - coding silent 7:138580565-138580565 + HCC051T COSM5820729 c.1872C>G p.V624V Substitution - coding silent 7:138573602-138573602 + ESCC_BICR_061T COSM5430872 c.2376G>A p.E792E Substitution - coding silent 7:138579425-138579425 + CSCC-45-T COSM4547901 c.433G>T p.V145L Substitution - Missense 7:138504358-138504358 + HCC1395 COSM22381 c.2769C>T p.S923S Substitution - coding silent 7:138583927-138583927 + ESCC_8 COSM484897 c.1559A>C p.N520T Substitution - Missense 7:138567611-138567611 + TCGA-B8-4153-01 COSM484897 c.1559A>C p.N520T Substitution - Missense 7:138567611-138567611 + SH-3458 COSM3762398 c.2487A>G p.G829G Substitution - coding silent 7:138580565-138580565 + HCC1T COSM1622393 c.329C>T p.S110L Substitution - Missense 7:138460877-138460877 + ESCC-003T COSM3942054 c.2087G>A p.S696N Substitution - Missense 7:138576445-138576445 + CN-AML-NR-07-Dx COSM5428708 c.276C>A p.P92P Substitution - coding silent 7:138460824-138460824 + 213T COSM5576260 c.3115C>T p.R1039C Substitution - Missense 7:138584913-138584913 + HCC25T COSM1622395 c.1912_1913insT p.V639fs*6 Insertion - Frameshift 7:138573540-138573541 + TCGA-BG-A0LX-01 COSM1086001 c.2314A>G p.T772A Substitution - Missense 7:138579261-138579261 + PT38 COSM5922657 c.1771C>T p.P591S Substitution - Missense 7:138570896-138570896 + KM12 COSM2859782 c.258G>A p.Q86Q Substitution - coding silent 7:138460806-138460806 + TCGA-AM-5821-01 COSM3762397 c.2589A>G p.G863G Substitution - coding silent 7:138580565-138580565 + TCGA-CA-6717-01 COSM1448369 c.1275C>T p.I425I Substitution - coding silent 7:138554711-138554711 + LS180 COSM2859906 c.2252delA p.N752fs*14 Deletion - Frameshift 7:138577584-138577584 + TCGA-CA-6718-01 COSM168759 c.2161C>T p.R721* Substitution - Nonsense 7:138577493-138577493 + 3N35-VS-3T35 COSM4981121 c.1082A>G p.H361R Substitution - Missense 7:138538742-138538742 + TCGA-AX-A0J1-01 COSM1085998 c.1673C>T p.T558M Substitution - Missense 7:138570900-138570900 + 3N35-VS-3T35 COSM4981122 c.1082A>G p.H361R Substitution - Missense 7:138538742-138538742 + OSCC-GB_00460111 COSM3715610 c.2717G>A p.R906K Substitution - Missense 7:138580693-138580693 + YUPRO COSM1699418 c.1981G>A p.G661R Substitution - Missense 7:138576441-138576441 + TCGA-GN-A269-01 COSM3633862 c.2382G>A p.Q794Q Substitution - coding silent 7:138579329-138579329 + BD236T COSM5518800 c.2435A>G p.K812R Substitution - Missense 7:138579484-138579484 + TCGA-EE-A2GR-06 COSM3633867 c.3004C>T p.R1002W Substitution - Missense 7:138584904-138584904 + Pat_44_B COSM3878497 c.3035G>A p.R1012H Substitution - Missense 7:138584935-138584935 + TCGA-AX-A0J0-01 COSM168759 c.2161C>T p.R721* Substitution - Nonsense 7:138577493-138577493 + TCGA-D7-8572-01 COSM3878492 c.2653C>T p.P885S Substitution - Missense 7:138580629-138580629 + PD0248a COSM12998 c.1208C>A p.T403N Substitution - Missense 7:138551127-138551127 + TCGA-CC-A3M9-01 COSM4928462 c.1457G>A p.R486Q Substitution - Missense 7:138554893-138554893 + SNU-175 COSM2859922 c.2651C>A p.A884D Substitution - Missense 7:138580627-138580627 + TCGA-B0-4710-01 COSM484902 c.2494A>C p.I832L Substitution - Missense 7:138580572-138580572 + PTC-7C COSM4161824 c.26T>G p.V9G Substitution - Missense 7:138460574-138460574 + HCC98 COSM3662940 c.1879-2A>T p.? Unknown 7:138573505-138573505 + HCA7 COSM4631179 c.2610C>T p.C870C Substitution - coding silent 7:138580586-138580586 + 0014_CRUK_PC_0014_T1_DNA COSM5422921 c.2866T>G p.Y956D Substitution - Missense 7:138583922-138583922 + BD236T COSM5518799 c.2537A>G p.K846R Substitution - Missense 7:138579484-138579484 + HCC2998 COSM1673581 c.2906T>G p.F969C Substitution - Missense 7:138583962-138583962 + PT38 COSM5922658 c.1669C>T p.P557S Substitution - Missense 7:138570896-138570896 + TCGA-ER-A3PL-06 COSM24028 c.2871C>T p.S957S Substitution - coding silent 7:138583927-138583927 + TCGA-BH-A18P-01 COSM452425 c.831G>A p.L277L Substitution - coding silent 7:138525307-138525307 + TCGA-GF-A6C9-06 COSM4902487 c.1476T>C p.G492G Substitution - coding silent 7:138554912-138554912 + TCGA-BH-A18P-01 COSM452424 c.831G>A p.L277L Substitution - coding silent 7:138525307-138525307 + EW8 COSM2859781 c.150C>G p.L50L Substitution - coding silent 7:138460698-138460698 + SH-9771 COSM5020978 c.2514C>G p.D838E Substitution - Missense 7:138580592-138580592 + TCGA-AA-3833-01 COSM271570 c.2429G>A p.C810Y Substitution - Missense 7:138579478-138579478 + CSCC-45-T COSM4554357 c.619G>A p.E207K Substitution - Missense 7:138515347-138515347 + 35M COSM4992830 c.1492C>T p.P498S Substitution - Missense 7:138567544-138567544 + TCGA-06-0171-02 COSM35821 c.1172G>A p.R391H Substitution - Missense 7:138551091-138551091 + S01023 COSM5666744 c.517A>C p.N173H Substitution - Missense 7:138515245-138515245 + TCGA-CG-5726-01 COSM3878478 c.194G>A p.S65N Substitution - Missense 7:138460742-138460742 + ESCC_8 COSM484896 c.1661A>C p.N554T Substitution - Missense 7:138567611-138567611 + PCSI_0504_Pa_P_526 COSM4806625 c.733G>T p.D245Y Substitution - Missense 7:138519290-138519290 + 587376 COSM1230307 c.623T>C p.V208A Substitution - Missense 7:138515351-138515351 + ESCC_96 COSM5637706 c.1429-1G>T p.? Unknown 7:138567480-138567480 + TCGA-D8-A1XK-01 COSM3831977 c.794A>T p.N265I Substitution - Missense 7:138525270-138525270 + HN_63021 COSM129889 c.2927T>G p.F976C Substitution - Missense 7:138584827-138584827 + CCC6T COSM3662943 c.1893G>A p.V631V Substitution - coding silent 7:138573623-138573623 + SNU-C4 COSM4654196 c.1489A>G p.R497G Substitution - Missense 7:138554925-138554925 + T578 COSM4735990 c.1265C>A p.S422Y Substitution - Missense 7:138554701-138554701 + 49M COSM5593573 c.2705C>T p.P902L Substitution - Missense 7:138580681-138580681 + PD11327a COSM5786128 c.457A>T p.S153C Substitution - Missense 7:138504382-138504382 + 213T COSM5576261 c.3013C>T p.R1005C Substitution - Missense 7:138584913-138584913 + 43 COSM5734045 c.2986G>A p.D996N Substitution - Missense 7:138584886-138584886 + AOCS-139-6-3 COSM4153870 c.833T>A p.M278K Substitution - Missense 7:138525309-138525309 + TCGA-CA-6717-01 COSM1448368 c.1275C>T p.I425I Substitution - coding silent 7:138554711-138554711 + ccRCC-94 COSM1664676 c.475T>A p.S159T Substitution - Missense 7:138504400-138504400 + sysucc-1465T COSM745476 c.1874C>T p.P625L Substitution - Missense 7:138570999-138570999 + LUAD-NYU284 COSM373316 c.732A>T p.R244R Substitution - coding silent 7:138519289-138519289 + sysucc-1317T COSM3878485 c.1016G>A p.R339H Substitution - Missense 7:138538676-138538676 + CSCC-47-T COSM4538130 c.2504G>A p.G835E Substitution - Missense 7:138579451-138579451 + HCT116 COSM2859868 c.1433C>T p.P478L Substitution - Missense 7:138567485-138567485 + PCSI_0504_Pa_P_526 COSM4806626 c.733G>T p.D245Y Substitution - Missense 7:138519290-138519290 + SH-9771 COSM5020977 c.2616C>G p.D872E Substitution - Missense 7:138580592-138580592 + 2341098 COSM484896 c.1661A>C p.N554T Substitution - Missense 7:138567611-138567611 + HCC123T COSM5816926 c.368G>A p.G123E Substitution - Missense 7:138504293-138504293 + LUAD-NYU284 COSM373315 c.732A>T p.R244R Substitution - coding silent 7:138519289-138519289 + T3503 COSM4735986 c.835_836insA p.T281fs*17 Insertion - Frameshift 7:138525311-138525312 + C0012T COSM4155427 c.1742T>A p.V581E Substitution - Missense 7:138570969-138570969 + TCGA-BH-A0AY-01 COSM452419 c.404C>G p.A135G Substitution - Missense 7:138504329-138504329 + TCGA-D3-A3C7-06 COSM3633857 c.2125G>A p.E709K Substitution - Missense 7:138577559-138577559 + Pat_53_B COSM5871929 c.1576C>T p.P526S Substitution - Missense 7:138567526-138567526 + TCGA-22-5477-01 COSM745470 c.2683G>A p.E895K Substitution - Missense 7:138580659-138580659 + TCGA-BH-A0B6-01 COSM3831983 c.3001C>G p.L1001V Substitution - Missense 7:138584799-138584799 + TCGA-DW-7837-01 COSM3995373 c.141G>A p.A47A Substitution - coding silent 7:138460689-138460689 + TCGA-BR-6452-01 COSM3878482 c.819A>G p.L273L Substitution - coding silent 7:138525295-138525295 + TCGA-ER-A194-01 COSM277801 c.376C>T p.R126C Substitution - Missense 7:138504301-138504301 + sysucc-1163T COSM5459295 c.1842A>G p.P614P Substitution - coding silent 7:138570967-138570967 + sysucc-1465T COSM745477 c.1772C>T p.P591L Substitution - Missense 7:138570999-138570999 + HCC1T COSM1622394 c.329C>T p.S110L Substitution - Missense 7:138460877-138460877 + HCC25T COSM1622396 c.1810_1811insT p.V605fs*6 Insertion - Frameshift 7:138573540-138573541 + PD0901a COSM20649 c.959T>C p.I320T Substitution - Missense 7:138529193-138529193 + TCGA-D8-A1J8-01 COSM3831986 c.3025A>G p.I1009V Substitution - Missense 7:138584925-138584925 + SH-1679 COSM3762398 c.2487A>G p.G829G Substitution - coding silent 7:138580565-138580565 + YUPROST COSM1699412 c.1315C>T p.P439S Substitution - Missense 7:138554751-138554751 + S03-09436-TP COSM4992832 c.1664C>T p.P555L Substitution - Missense 7:138567614-138567614 + 189T COSM5576173 c.706G>C p.E236Q Substitution - Missense 7:138519263-138519263 + HCC76T COSM3662945 c.2479C>G p.P827A Substitution - Missense 7:138579528-138579528 + TCGA-AH-6897-01 COSM4735995 c.2917_2918insA p.R975fs*10 Insertion - Frameshift 7:138584817-138584818 + PD0248a COSM12998 c.1208C>A p.T403N Substitution - Missense 7:138551127-138551127 + TCGA-EE-A2A1-06 COSM3633851 c.1378C>T p.P460S Substitution - Missense 7:138554814-138554814 + TCGA-B0-4710-01 COSM484901 c.2596A>C p.I866L Substitution - Missense 7:138580572-138580572 + PCSI_0338_Pa_P_526 COSM4807122 c.374T>C p.I125T Substitution - Missense 7:138504299-138504299 + TCGA-B0-4712-01 COSM484899 c.2587G>T p.G863* Substitution - Nonsense 7:138580563-138580563 + AML33 COSM166851 c.2626C>T p.R876C Substitution - Missense 7:138581706-138581706 + TCGA-FW-A3R5-06 COSM3922782 c.1251C>T p.I417I Substitution - coding silent 7:138551170-138551170 + PARPRW COSM5005770 c.1056C>G p.L352L Substitution - coding silent 7:138538716-138538716 + YUPRO COSM1699417 c.2083G>A p.G695R Substitution - Missense 7:138576441-138576441 + SH-2871 COSM5019655 c.2925C>T p.N975N Substitution - coding silent 7:138583981-138583981 + LUAD-QCHM7 COSM377297 c.2617-1G>C p.? Unknown 7:138581696-138581696 + HCC112T COSM5818668 c.2757A>G p.Q919Q Substitution - coding silent 7:138583915-138583915 + TCGA-B8-5553-01 COSM3366797 c.3141G>C p.Q1047H Substitution - Missense 7:138584939-138584939 + TCGA-EJ-7794-01 COSM1471941 c.117G>A p.P39P Substitution - coding silent 7:138460665-138460665 + PCSI_0139_Pa_X COSM3381814 c.1413G>C p.Q471H Substitution - Missense 7:138554849-138554849 + TCGA-BH-A0B6-01 COSM3831984 c.2899C>G p.L967V Substitution - Missense 7:138584799-138584799 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.490273;Hs.490287 7q32-q34 603406 2475492|CGAP|BC028689|A/C|non-coding||3542|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - 3-UTRDeletion . c.3150+4188delG 7 138273881 HC A C Missense p.I866L c.2596A>C 7 138265317 RCCC A C Missense p.K146Q c.436A>C 7 138189106 CM A C Missense p.N554T c.1661A>C 7 138252356 CM A C Missense p.N554T c.1661A>C 7 138252356 HNSC A C Missense p.Q568P c.1703A>C 7 138252398 LUSC - A Frameshift p.R1009Kfs*10 c.3025dupA 7 138269563 COREAD A G Missense p.I270V c.808A>G 7 138210029 HNSC A G Synonymous p.K198K c.594A>G 7 138200067 COREAD A G Synonymous p.S663S c.1989A>G 7 138258362 LUSC A T SpliceAcceptorSNV . c.2015-2A>T 7 138261116 HNSC C A Missense p.Q563K c.1687C>A 7 138252382 HNSC C A Synonymous p.P152P c.456C>A 7 138189126 STAD C G 3-UTRSNV . c.3150+3143C>G 7 138272836 MB C G Missense p.A135G c.404C>G 7 138189074 BRCA C G Missense p.F869L c.2607C>G 7 138265328 BRCA C T Missense p.A559V c.1676C>T 7 138252371 STAD C T Missense p.P1035L c.3104C>T 7 138269647 COREAD C T Missense p.P439S c.1315C>T 7 138239496 CM C T Missense p.P460S c.1378C>T 7 138239559 CM C T Missense p.P625L c.1874C>T 7 138255744 CM C T Missense p.P625L c.1874C>T 7 138255744 LUSC C T Missense p.R1036W c.3106C>T 7 138269649 CM C T Missense p.R126C c.376C>T 7 138189046 CM C T Missense p.R391C c.1171C>T 7 138235835 CM C T Missense p.R910C c.2728C>T 7 138266451 AML C T Missense p.S457F c.1370C>T 7 138239551 CM C T Missense p.S762F c.2285C>T 7 138263977 CM C T Missense p.T709I c.2126C>T 7 138262203 MB C T Nonsense p.Q218* c.652C>T 7 138203954 BRCA C T Synonymous p.C130C c.390C>T 7 138189060 STAD C T Synonymous p.F459F c.1377C>T 7 138239558 CM C T Synonymous p.P855P c.2565C>T 7 138264257 CM C T Synonymous p.S397S c.1191C>T 7 138235855 CM C T Synonymous p.S762S c.2286C>T 7 138263978 CM G A Missense p.D1031N c.3091G>A 7 138269634 HNSC G A Missense p.E1045K c.3133G>A 7 138269676 BRCA G A Missense p.E236K c.706G>A 7 138204008 SCLC G A Missense p.E743K c.2227G>A 7 138262304 CM G A Missense p.E895K c.2683G>A 7 138265404 LUSC G A Missense p.E978K c.2932G>A 7 138268733 LGG G A Missense p.E999K c.2995G>A 7 138269538 STAD G A Missense p.R391H c.1172G>A 7 138235836 GBM G A Missense p.S65N c.194G>A 7 138145487 STAD G A Synonymous p.K146K c.438G>A 7 138189108 LUAD G A Synonymous p.K602K c.1806G>A 7 138255676 CM G A Synonymous p.P39P c.117G>A 7 138145410 PRAD G A Synonymous p.Q794Q c.2382G>A 7 138264074 CM GA TT MultiAAMissense p.E429_S430delinsDC c.1287_1288delinsTT 7 138239468 HNSC G C Missense p.E774Q c.2320G>C 7 138264012 HNSC G C Missense p.K1002N c.3006G>C 7 138269549 OV G C Missense p.Q1047H c.3141G>C 7 138269684 RCCC G C Missense p.V854L c.2560G>C 7 138264252 SCLC G T IntronicSNV . c.1530+5754G>T 7 138245465 PIA G T Missense p.K146N c.438G>T 7 138189108 LUAD G T Missense p.V180F c.538G>T 7 138200011 LUAD T A Synonymous p.P513P c.1539T>A 7 138252234 LUSC T G Missense p.F1010C c.3029T>G 7 138269572 HNSC