Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 12 39695356 39695356 + Silent SNP C C A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr12:39695356C>A c.4857G>T c.(4855-4857)gtG>gtT p.V1619V ACC 12 39751149 39751149 + Missense_Mutation SNP G G A TCGA-OR-A5LB-01A-11D-A29I-10 TCGA-OR-A5LB-10A-01D-A29L-10 g.chr12:39751149G>A c.1306C>T c.(1306-1308)Cgt>Tgt p.R436C BLCA 12 39696876 39696876 + Frame_Shift_Del DEL G G - TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 g.chr12:39696876delG c.4622delC c.(4621-4623)cctfs p.P1541fs BLCA 12 39703397 39703397 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr12:39703397C>T c.4268G>A c.(4267-4269)cGa>cAa p.R1423Q BLCA 12 39703448 39703448 + Nonsense_Mutation SNP G G C TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr12:39703448G>C c.4217C>G c.(4216-4218)tCa>tGa p.S1406* BLCA 12 39705303 39705303 + Frame_Shift_Del DEL G G - TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr12:39705303delG c.4012delC c.(4012-4014)cagfs p.Q1338fs BLCA 12 39711890 39711890 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 g.chr12:39711890G>A c.3893C>T c.(3892-3894)tCa>tTa p.S1298L BLCA 12 39716469 39716469 + Splice_Site SNP C C A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 g.chr12:39716469C>A c.e27+1 BLCA 12 39716623 39716623 + Nonsense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 g.chr12:39716623G>C c.3518C>G c.(3517-3519)tCa>tGa p.S1173* BLCA 12 39724593 39724593 + Missense_Mutation SNP C C T TCGA-GC-A6I1-01A-12D-A31L-08 TCGA-GC-A6I1-10A-01D-A31J-08 g.chr12:39724593C>T c.3274G>A c.(3274-3276)Gaa>Aaa p.E1092K BLCA 12 39725533 39725533 + Missense_Mutation SNP G G C TCGA-FD-A6TD-01A-51D-A339-08 TCGA-FD-A6TD-10A-21D-A339-08 g.chr12:39725533G>C c.3112C>G c.(3112-3114)Cga>Gga p.R1038G BLCA 12 39726726 39726726 + Missense_Mutation SNP C C A TCGA-ZF-AA5H-01A-11D-A391-08 TCGA-ZF-AA5H-10A-01D-A394-08 g.chr12:39726726C>A c.2671G>T c.(2671-2673)Gcc>Tcc p.A891S BLCA 12 39726896 39726896 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr12:39726896C>T c.2501G>A c.(2500-2502)cGt>cAt p.R834H BLCA 12 39726897 39726897 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr12:39726897G>A c.2500C>T c.(2500-2502)Cgt>Tgt p.R834C BLCA 12 39726900 39726900 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 g.chr12:39726900G>C c.2497C>G c.(2497-2499)Ctt>Gtt p.L833V BLCA 12 39730925 39730925 + Missense_Mutation SNP C C A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 g.chr12:39730925C>A c.2391G>T c.(2389-2391)caG>caT p.Q797H BLCA 12 39730987 39730987 + Missense_Mutation SNP T T C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 g.chr12:39730987T>C c.2329A>G c.(2329-2331)Atg>Gtg p.M777V BLCA 12 39734071 39734071 + Nonsense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 g.chr12:39734071G>A c.2206C>T c.(2206-2208)Caa>Taa p.Q736* BLCA 12 39745694 39745694 + Missense_Mutation SNP A A C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 g.chr12:39745694A>C c.1558T>G c.(1558-1560)Tca>Gca p.S520A BLCA 12 39751077 39751077 + Missense_Mutation SNP G G C TCGA-KQ-A41O-01A-12D-A34U-08 TCGA-KQ-A41O-10D-01D-A34X-08 g.chr12:39751077G>C c.1378C>G c.(1378-1380)Cag>Gag p.Q460E BLCA 12 39751995 39751995 + Silent SNP G G A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 g.chr12:39751995G>A c.1200C>T c.(1198-1200)ctC>ctT p.L400L BLCA 12 39751995 39751995 + Silent SNP G G C TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr12:39751995G>C c.1200C>G c.(1198-1200)ctC>ctG p.L400L BLCA 12 39756904 39756904 + Missense_Mutation SNP T T C TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr12:39756904T>C c.1015A>G c.(1015-1017)Aat>Gat p.N339D BLCA 12 39760168 39760168 + Missense_Mutation SNP G G A TCGA-2F-A9KR-01A-11D-A38G-08 TCGA-2F-A9KR-10A-01D-A38J-08 g.chr12:39760168G>A c.887C>T c.(886-888)tCt>tTt p.S296F BLCA 12 39760203 39760203 + Silent SNP A A G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 g.chr12:39760203A>G c.852T>C c.(850-852)acT>acC p.T284T BLCA 12 39761747 39761747 + Missense_Mutation SNP C C A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 g.chr12:39761747C>A c.538G>T c.(538-540)Gat>Tat p.D180Y BLCA 12 39763563 39763563 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 g.chr12:39763563G>T c.418C>A c.(418-420)Cca>Aca p.P140T BLCA 12 39763635 39763635 + Missense_Mutation SNP G G C TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr12:39763635G>C c.346C>G c.(346-348)Cga>Gga p.R116G BLCA 12 39764056 39764056 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 g.chr12:39764056G>A c.52C>T c.(52-54)Cca>Tca p.P18S BRCA 12 39711890 39711890 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr12:39711890G>A c.3893C>T c.(3892-3894)tCa>tTa p.S1298L BRCA 12 39711981 39711981 + Missense_Mutation SNP C C G TCGA-HN-A2NL-01A-11D-A18P-09 TCGA-HN-A2NL-10A-01D-A18P-09 g.chr12:39711981C>G c.3802G>C c.(3802-3804)Gct>Cct p.A1268P BRCA 12 39716479 39716479 + Missense_Mutation SNP A A G TCGA-A1-A0SI-01A-11D-A142-09 TCGA-A1-A0SI-10B-01D-A142-09 g.chr12:39716479A>G c.3662T>C c.(3661-3663)aTa>aCa p.I1221T BRCA 12 39725549 39725549 + Silent SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr12:39725549G>A c.3096C>T c.(3094-3096)tgC>tgT p.C1032C BRCA 12 39726826 39726826 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr12:39726826T>G c.2571A>C c.(2569-2571)gcA>gcC p.A857A BRCA 12 39734847 39734848 + Frame_Shift_Ins INS - - TTAA TCGA-D8-A1JF-01A-11D-A13L-09 TCGA-D8-A1JF-10A-01D-A17G-09 g.chr12:39734847_39734848insTTAA c.1970_1971insTTAA c.(1969-1971)aagfs p.K657fs BRCA 12 39752014 39752014 + Missense_Mutation SNP G G A TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr12:39752014G>A c.1181C>T c.(1180-1182)aCa>aTa p.T394I BRCA 12 39763645 39763645 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr12:39763645A>G c.336T>C c.(334-336)ggT>ggC p.G112G BRCA 12 39764027 39764027 + Silent SNP T T C TCGA-AN-A0AM-01A-11W-A050-09 TCGA-AN-A0AM-10A-01W-A055-09 g.chr12:39764027T>C c.81A>G c.(79-81)ggA>ggG p.G27G CESC 12 39716488 39716488 + Missense_Mutation SNP G G T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 g.chr12:39716488G>T c.3653C>A c.(3652-3654)cCt>cAt p.P1218H CESC 12 39716558 39716559 + Missense_Mutation DNP TC TC AG TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr12:39716558_39716559TC>AG c.3582_3583GA>CT c.(3580-3585)gaGAtt>gaCTtt p.1194_1195EI>DF CESC 12 39730978 39730978 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr12:39730978C>T c.2338G>A c.(2338-2340)Gaa>Aaa p.E780K CESC 12 39760894 39760894 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr12:39760894G>A c.673C>T c.(673-675)Cgt>Tgt p.R225C CESC 12 39763563 39763563 + Missense_Mutation SNP G G A TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 g.chr12:39763563G>A c.418C>T c.(418-420)Cca>Tca p.P140S CHOL 12 39701493 39701493 + Missense_Mutation SNP G G T TCGA-W5-AA2Q-01A-11D-A417-09 TCGA-W5-AA2Q-10A-01D-A41A-09 g.chr12:39701493G>T c.4316C>A c.(4315-4317)gCa>gAa p.A1439E CHOL 12 39752014 39752014 + Missense_Mutation SNP G G T TCGA-3X-AAV9-01A-72D-A417-09 TCGA-3X-AAV9-10A-01D-A41A-09 g.chr12:39752014G>T c.1181C>A c.(1180-1182)aCa>aAa p.T394K COAD 12 39688263 39688263 + Missense_Mutation SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:39688263T>C c.4988A>G c.(4987-4989)gAc>gGc p.D1663G COAD 12 39701482 39701482 + Nonsense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:39701482G>A c.4327C>T c.(4327-4329)Cga>Tga p.R1443* COAD 12 39703479 39703479 + Missense_Mutation SNP A A G TCGA-CM-6169-01A-11D-1650-10 TCGA-CM-6169-10A-01D-1650-10 g.chr12:39703479A>G c.4186T>C c.(4186-4188)Tgt>Cgt p.C1396R COAD 12 39705348 39705348 + Missense_Mutation SNP T T G TCGA-AA-3867-01A-01W-0995-10 TCGA-AA-3867-10A-01W-0995-10 g.chr12:39705348T>G c.3967A>C c.(3967-3969)Atc>Ctc p.I1323L COAD 12 39709745 39709746 + Frame_Shift_Ins INS - - GA TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr12:39709745_39709746insGA c.3935_3936insTC c.(3934-3936)tcgfs p.S1312fs COAD 12 39711942 39711942 + Missense_Mutation SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr12:39711942G>A c.3841C>T c.(3841-3843)Cgt>Tgt p.R1281C COAD 12 39724054 39724054 + Silent SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr12:39724054G>A c.3330C>T c.(3328-3330)agC>agT p.S1110S COAD 12 39725576 39725576 + Silent SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr12:39725576C>T c.3069G>A c.(3067-3069)ttG>ttA p.L1023L COAD 12 39731002 39731002 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:39731002G>A c.2314C>T c.(2314-2316)Cgc>Tgc p.R772C COAD 12 39733992 39733992 + Missense_Mutation SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr12:39733992T>C c.2285A>G c.(2284-2286)gAt>gGt p.D762G COAD 12 39734034 39734034 + Frame_Shift_Del DEL T T - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr12:39734034delT c.2243delA c.(2242-2244)aatfs p.N748fs COAD 12 39734073 39734073 + Missense_Mutation SNP A A G TCGA-AD-6890-01A-11D-1924-10 TCGA-AD-6890-10A-01D-1924-10 g.chr12:39734073A>G c.2204T>C c.(2203-2205)cTt>cCt p.L735P COAD 12 39734073 39734073 + Missense_Mutation SNP A A G TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr12:39734073A>G c.2204T>C c.(2203-2205)cTt>cCt p.L735P COAD 12 39734073 39734073 + Missense_Mutation SNP A A G TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr12:39734073A>G c.2204T>C c.(2203-2205)cTt>cCt p.L735P COAD 12 39734073 39734073 + Missense_Mutation SNP A A G TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr12:39734073A>G c.2204T>C c.(2203-2205)cTt>cCt p.L735P COAD 12 39734129 39734129 + Frame_Shift_Del DEL T T - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr12:39734129delT c.2148delA c.(2146-2148)aaafs p.K716fs COAD 12 39734129 39734129 + Frame_Shift_Del DEL T T - TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr12:39734129delT c.2148delA c.(2146-2148)aaafs p.K716fs COAD 12 39734129 39734129 + Frame_Shift_Del DEL T T - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr12:39734129delT c.2148delA c.(2146-2148)aaafs p.K716fs COAD 12 39734896 39734896 + Splice_Site SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:39734896G>A c.1922C>T c.(1921-1923)gCc>gTc p.A641V COAD 12 39745580 39745580 + Splice_Site DEL T T - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr12:39745580delT c.1672delA c.(1672-1674)agg>gg p.R558fs COAD 12 39745637 39745637 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:39745637C>T c.1615G>A c.(1615-1617)Gac>Aac p.D539N COAD 12 39745741 39745741 + Missense_Mutation SNP C C T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr12:39745741C>T c.1511G>A c.(1510-1512)cGa>cAa p.R504Q COAD 12 39751232 39751232 + Missense_Mutation SNP C C G TCGA-D5-6926-01A-11D-1924-10 TCGA-D5-6926-10A-01D-1924-10 g.chr12:39751232C>G c.1223G>C c.(1222-1224)aGa>aCa p.R408T COAD 12 39752159 39752159 + Missense_Mutation SNP C C T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr12:39752159C>T c.1036G>A c.(1036-1038)Gca>Aca p.A346T COAD 12 39760168 39760168 + Missense_Mutation SNP G G T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr12:39760168G>T c.887C>A c.(886-888)tCt>tAt p.S296Y COAD 12 39760184 39760184 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr12:39760184C>T c.871G>A c.(871-873)Gca>Aca p.A291T COAD 12 39761707 39761707 + Missense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr12:39761707C>T c.578G>A c.(577-579)cGt>cAt p.R193H COAD 12 39761753 39761753 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:39761753G>T c.532C>A c.(532-534)Cat>Aat p.H178N COAD 12 39763922 39763922 + Silent SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr12:39763922C>T c.186G>A c.(184-186)gaG>gaA p.E62E COAD 12 39764014 39764014 + Missense_Mutation SNP T T C TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr12:39764014T>C c.94A>G c.(94-96)Aca>Gca p.T32A COADREAD 12 39688263 39688263 + Missense_Mutation SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:39688263T>C c.4988A>G c.(4987-4989)gAc>gGc p.D1663G COADREAD 12 39695439 39695439 + Missense_Mutation SNP C C T TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chr12:39695439C>T c.4774G>A c.(4774-4776)Gtg>Atg p.V1592M COADREAD 12 39701482 39701482 + Nonsense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:39701482G>A c.4327C>T c.(4327-4329)Cga>Tga p.R1443* COADREAD 12 39703479 39703479 + Missense_Mutation SNP A A G TCGA-CM-6169-01A-11D-1650-10 TCGA-CM-6169-10A-01D-1650-10 g.chr12:39703479A>G c.4186T>C c.(4186-4188)Tgt>Cgt p.C1396R COADREAD 12 39705348 39705348 + Missense_Mutation SNP T T G TCGA-AA-3867-01A-01W-0995-10 TCGA-AA-3867-10A-01W-0995-10 g.chr12:39705348T>G c.3967A>C c.(3967-3969)Atc>Ctc p.I1323L COADREAD 12 39709745 39709746 + Frame_Shift_Ins INS - - GA TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr12:39709745_39709746insGA c.3935_3936insTC c.(3934-3936)tcgfs p.S1312fs COADREAD 12 39711942 39711942 + Missense_Mutation SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr12:39711942G>A c.3841C>T c.(3841-3843)Cgt>Tgt p.R1281C COADREAD 12 39713817 39713817 + Splice_Site SNP T T C TCGA-CL-5917-01A-11D-1657-10 TCGA-CL-5917-10A-01D-1657-10 g.chr12:39713817T>C c.e28-2 COADREAD 12 39716680 39716680 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:39716680C>T c.3461G>A c.(3460-3462)cGa>cAa p.R1154Q COADREAD 12 39724054 39724054 + Silent SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr12:39724054G>A c.3330C>T c.(3328-3330)agC>agT p.S1110S COADREAD 12 39725513 39725513 + Missense_Mutation SNP G G T TCGA-CI-6624-01C-11D-1826-10 TCGA-CI-6624-10A-01D-1826-10 g.chr12:39725513G>T c.3132C>A c.(3130-3132)ttC>ttA p.F1044L COADREAD 12 39725576 39725576 + Silent SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr12:39725576C>T c.3069G>A c.(3067-3069)ttG>ttA p.L1023L COADREAD 12 39726135 39726135 + Missense_Mutation SNP C C T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr12:39726135C>T c.2932G>A c.(2932-2934)Gga>Aga p.G978R COADREAD 12 39726186 39726186 + Nonsense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:39726186G>A c.2881C>T c.(2881-2883)Cga>Tga p.R961* COADREAD 12 39731002 39731002 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:39731002G>A c.2314C>T c.(2314-2316)Cgc>Tgc p.R772C COADREAD 12 39733992 39733992 + Missense_Mutation SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr12:39733992T>C c.2285A>G c.(2284-2286)gAt>gGt p.D762G COADREAD 12 39734034 39734034 + Frame_Shift_Del DEL T T - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr12:39734034delT c.2243delA c.(2242-2244)aatfs p.N748fs COADREAD 12 39734073 39734073 + Missense_Mutation SNP A A G TCGA-AD-6890-01A-11D-1924-10 TCGA-AD-6890-10A-01D-1924-10 g.chr12:39734073A>G c.2204T>C c.(2203-2205)cTt>cCt p.L735P COADREAD 12 39734073 39734073 + Missense_Mutation SNP A A G TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr12:39734073A>G c.2204T>C c.(2203-2205)cTt>cCt p.L735P COADREAD 12 39734073 39734073 + Missense_Mutation SNP A A G TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr12:39734073A>G c.2204T>C c.(2203-2205)cTt>cCt p.L735P COADREAD 12 39734073 39734073 + Missense_Mutation SNP A A G TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr12:39734073A>G c.2204T>C c.(2203-2205)cTt>cCt p.L735P COADREAD 12 39734129 39734129 + Frame_Shift_Del DEL T T - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr12:39734129delT c.2148delA c.(2146-2148)aaafs p.K716fs COADREAD 12 39734129 39734129 + Frame_Shift_Del DEL T T - TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr12:39734129delT c.2148delA c.(2146-2148)aaafs p.K716fs COADREAD 12 39734129 39734129 + Frame_Shift_Del DEL T T - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr12:39734129delT c.2148delA c.(2146-2148)aaafs p.K716fs COADREAD 12 39734896 39734896 + Splice_Site SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:39734896G>A c.1922C>T c.(1921-1923)gCc>gTc p.A641V COADREAD 12 39745580 39745580 + Splice_Site DEL T T - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr12:39745580delT c.1672delA c.(1672-1674)agg>gg p.R558fs COADREAD 12 39745603 39745603 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:39745603C>A c.1649G>T c.(1648-1650)aGa>aTa p.R550I COADREAD 12 39745637 39745637 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:39745637C>T c.1615G>A c.(1615-1617)Gac>Aac p.D539N COADREAD 12 39745741 39745741 + Missense_Mutation SNP C C T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr12:39745741C>T c.1511G>A c.(1510-1512)cGa>cAa p.R504Q COADREAD 12 39751232 39751232 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:39751232C>A c.1223G>T c.(1222-1224)aGa>aTa p.R408I COADREAD 12 39751232 39751232 + Missense_Mutation SNP C C G TCGA-D5-6926-01A-11D-1924-10 TCGA-D5-6926-10A-01D-1924-10 g.chr12:39751232C>G c.1223G>C c.(1222-1224)aGa>aCa p.R408T COADREAD 12 39752159 39752159 + Missense_Mutation SNP C C T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr12:39752159C>T c.1036G>A c.(1036-1038)Gca>Aca p.A346T COADREAD 12 39760168 39760168 + Missense_Mutation SNP G G T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr12:39760168G>T c.887C>A c.(886-888)tCt>tAt p.S296Y COADREAD 12 39760184 39760184 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr12:39760184C>T c.871G>A c.(871-873)Gca>Aca p.A291T COADREAD 12 39761707 39761707 + Missense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr12:39761707C>T c.578G>A c.(577-579)cGt>cAt p.R193H COADREAD 12 39761753 39761753 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:39761753G>T c.532C>A c.(532-534)Cat>Aat p.H178N COADREAD 12 39763922 39763922 + Silent SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr12:39763922C>T c.186G>A c.(184-186)gaG>gaA p.E62E COADREAD 12 39764014 39764014 + Missense_Mutation SNP T T C TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr12:39764014T>C c.94A>G c.(94-96)Aca>Gca p.T32A DLBC 12 39716675 39716675 + Nonsense_Mutation SNP T T A TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr12:39716675T>A c.3466A>T c.(3466-3468)Aga>Tga p.R1156* DLBC 12 39734066 39734066 + Silent SNP T T G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr12:39734066T>G c.2211A>C c.(2209-2211)gcA>gcC p.A737A ESCA 12 39696800 39696800 + Missense_Mutation SNP C C A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 g.chr12:39696800C>A c.4698G>T c.(4696-4698)aaG>aaT p.K1566N ESCA 12 39703442 39703442 + Missense_Mutation SNP G G C TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 g.chr12:39703442G>C c.4223C>G c.(4222-4224)tCt>tGt p.S1408C ESCA 12 39703470 39703471 + Frame_Shift_Ins INS - - A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 g.chr12:39703470_39703471insA c.4194_4195insT c.(4192-4197)tataccfs p.T1399fs ESCA 12 39725518 39725518 + Missense_Mutation SNP G G T TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 g.chr12:39725518G>T c.3127C>A c.(3127-3129)Cac>Aac p.H1043N ESCA 12 39726722 39726722 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr12:39726722A>G c.2675T>C c.(2674-2676)tTa>tCa p.L892S ESCA 12 39734142 39734142 + Missense_Mutation SNP T T G TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 g.chr12:39734142T>G c.2135A>C c.(2134-2136)gAa>gCa p.E712A ESCA 12 39735383 39735383 + Silent SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 g.chr12:39735383C>T c.1845G>A c.(1843-1845)gaG>gaA p.E615E ESCA 12 39760156 39760156 + Missense_Mutation SNP C C A TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 g.chr12:39760156C>A c.899G>T c.(898-900)gGa>gTa p.G300V GBM 12 39716483 39716483 + Missense_Mutation SNP T T C TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 g.chr12:39716483T>C c.3658A>G c.(3658-3660)Aag>Gag p.K1220E GBM 12 39726188 39726188 + Missense_Mutation SNP C C A TCGA-32-2615-01A-01D-1495-08 TCGA-32-2615-10A-01D-1495-08 g.chr12:39726188C>A c.2879G>T c.(2878-2880)aGa>aTa p.R960I GBMLGG 12 39716483 39716483 + Missense_Mutation SNP T T C TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 g.chr12:39716483T>C c.3658A>G c.(3658-3660)Aag>Gag p.K1220E GBMLGG 12 39725524 39725524 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:39725524G>A c.3121C>T c.(3121-3123)Cta>Tta p.L1041L GBMLGG 12 39726188 39726188 + Missense_Mutation SNP C C A TCGA-32-2615-01A-01D-1495-08 TCGA-32-2615-10A-01D-1495-08 g.chr12:39726188C>A c.2879G>T c.(2878-2880)aGa>aTa p.R960I GBMLGG 12 39761740 39761740 + Missense_Mutation SNP G G C TCGA-HT-7689-01A-11D-2253-08 TCGA-HT-7689-10A-01D-2253-08 g.chr12:39761740G>C c.545C>G c.(544-546)aCt>aGt p.T182S GBMLGG 12 39763607 39763607 + Missense_Mutation SNP A A G TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 g.chr12:39763607A>G c.374T>C c.(373-375)aTt>aCt p.I125T GBMLGG 12 39763628 39763628 + Missense_Mutation SNP A A C TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 g.chr12:39763628A>C c.353T>G c.(352-354)gTt>gGt p.V118G GBMLGG 12 39763653 39763653 + Nonsense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:39763653C>A c.328G>T c.(328-330)Gaa>Taa p.E110* HNSC 12 39695412 39695412 + Missense_Mutation SNP T T A TCGA-D6-A6ES-01A-12D-A31L-08 TCGA-D6-A6ES-10A-01D-A31J-08 g.chr12:39695412T>A c.4801A>T c.(4801-4803)Agt>Tgt p.S1601C HNSC 12 39696848 39696848 + Silent SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 g.chr12:39696848G>A c.4650C>T c.(4648-4650)acC>acT p.T1550T HNSC 12 39696913 39696913 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr12:39696913G>A c.4585C>T c.(4585-4587)Ctt>Ttt p.L1529F HNSC 12 39705291 39705291 + Missense_Mutation SNP T T C TCGA-CN-A6V3-01A-12D-A34J-08 TCGA-CN-A6V3-10A-01D-A34M-08 g.chr12:39705291T>C c.4024A>G c.(4024-4026)Ata>Gta p.I1342V HNSC 12 39713804 39713804 + Nonsense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr12:39713804G>C c.3683C>G c.(3682-3684)tCa>tGa p.S1228* HNSC 12 39716680 39716680 + Missense_Mutation SNP C C G TCGA-D6-8568-01A-11D-2394-08 TCGA-D6-8568-10A-01D-2394-08 g.chr12:39716680C>G c.3461G>C c.(3460-3462)cGa>cCa p.R1154P HNSC 12 39716684 39716684 + Splice_Site SNP C C A TCGA-CV-7245-01A-11D-2012-08 TCGA-CV-7245-10A-01D-2013-08 g.chr12:39716684C>A c.3457G>T c.(3457-3459)Gcc>Tcc p.A1153S HNSC 12 39720119 39720119 + Silent SNP T T C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 g.chr12:39720119T>C c.3348A>G c.(3346-3348)gtA>gtG p.V1116V HNSC 12 39724658 39724658 + Missense_Mutation SNP T T G TCGA-CV-7245-01A-11D-2012-08 TCGA-CV-7245-10A-01D-2013-08 g.chr12:39724658T>G c.3209A>C c.(3208-3210)aAa>aCa p.K1070T HNSC 12 39726014 39726014 + Splice_Site SNP A A G TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr12:39726014A>G c.e21+1 HNSC 12 39726145 39726145 + Silent SNP C C T TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 g.chr12:39726145C>T c.2922G>A c.(2920-2922)gaG>gaA p.E974E HNSC 12 39726491 39726491 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 g.chr12:39726491G>A c.2758C>T c.(2758-2760)Cgc>Tgc p.R920C HNSC 12 39726736 39726736 + Silent SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 g.chr12:39726736C>T c.2661G>A c.(2659-2661)gcG>gcA p.A887A HNSC 12 39727051 39727051 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 g.chr12:39727051C>G c.2450G>C c.(2449-2451)aGa>aCa p.R817T HNSC 12 39735313 39735313 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 g.chr12:39735313C>G c.1915G>C c.(1915-1917)Gaa>Caa p.E639Q HNSC 12 39735874 39735874 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:39735874T>C c.1765A>G c.(1765-1767)Aag>Gag p.K589E HNSC 12 39745659 39745659 + Silent SNP G G A TCGA-CV-A45W-01A-11D-A25D-08 TCGA-CV-A45W-10A-01D-A25E-08 g.chr12:39745659G>A c.1593C>T c.(1591-1593)gaC>gaT p.D531D HNSC 12 39745734 39745734 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:39745734G>T c.1518C>A c.(1516-1518)aaC>aaA p.N506K HNSC 12 39751240 39751240 + Splice_Site SNP C C A TCGA-CQ-7072-01A-21D-A30E-08 TCGA-CQ-7072-10A-01D-A30H-08 g.chr12:39751240C>A c.e9-1 HNSC 12 39756911 39756911 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 g.chr12:39756911G>A c.1008C>T c.(1006-1008)ctC>ctT p.L336L HNSC 12 39760881 39760881 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:39760881A>G c.686T>C c.(685-687)aTt>aCt p.I229T HNSC 12 39763620 39763620 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr12:39763620G>A c.361C>T c.(361-363)Ctt>Ttt p.L121F HNSC 12 39763621 39763621 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr12:39763621G>A c.360C>T c.(358-360)caC>caT p.H120H HNSC 12 39763954 39763954 + Missense_Mutation SNP C C A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 g.chr12:39763954C>A c.154G>T c.(154-156)Gac>Tac p.D52Y KICH 12 39735383 39735383 + Silent SNP C C T TCGA-KN-8430-01A-11D-2310-10 TCGA-KN-8430-11A-01D-2311-10 g.chr12:39735383C>T c.1845G>A c.(1843-1845)gaG>gaA p.E615E KIPAN 12 39695383 39695383 + Silent SNP G G C TCGA-Y8-A8RY-01A-11D-A36X-10 TCGA-Y8-A8RY-10A-01D-A370-10 g.chr12:39695383G>C c.4830C>G c.(4828-4830)gtC>gtG p.V1610V KIPAN 12 39695437 39695437 + Silent SNP C C A TCGA-BP-4343-01A-02D-1366-10 TCGA-BP-4343-11A-01D-1366-10 g.chr12:39695437C>A c.4776G>T c.(4774-4776)gtG>gtT p.V1592V KIPAN 12 39726836 39726836 + Nonsense_Mutation SNP G G C TCGA-B8-4143-01A-01D-1806-10 TCGA-B8-4143-11A-01D-1251-10 g.chr12:39726836G>C c.2561C>G c.(2560-2562)tCa>tGa p.S854* KIPAN 12 39730918 39730918 + Missense_Mutation SNP T T G TCGA-BP-4782-01A-02D-1421-08 TCGA-BP-4782-11A-01D-1421-08 g.chr12:39730918T>G c.2398A>C c.(2398-2400)Aag>Cag p.K800Q KIPAN 12 39735383 39735383 + Silent SNP C C T TCGA-KN-8430-01A-11D-2310-10 TCGA-KN-8430-11A-01D-2311-10 g.chr12:39735383C>T c.1845G>A c.(1843-1845)gaG>gaA p.E615E KIRC 12 39695437 39695437 + Silent SNP C C A TCGA-BP-4343-01A-02D-1366-10 TCGA-BP-4343-11A-01D-1366-10 g.chr12:39695437C>A c.4776G>T c.(4774-4776)gtG>gtT p.V1592V KIRC 12 39726836 39726836 + Nonsense_Mutation SNP G G C TCGA-B8-4143-01A-01D-1806-10 TCGA-B8-4143-11A-01D-1251-10 g.chr12:39726836G>C c.2561C>G c.(2560-2562)tCa>tGa p.S854* KIRC 12 39730918 39730918 + Missense_Mutation SNP T T G TCGA-BP-4782-01A-02D-1421-08 TCGA-BP-4782-11A-01D-1421-08 g.chr12:39730918T>G c.2398A>C c.(2398-2400)Aag>Cag p.K800Q KIRP 12 39695383 39695383 + Silent SNP G G C TCGA-Y8-A8RY-01A-11D-A36X-10 TCGA-Y8-A8RY-10A-01D-A370-10 g.chr12:39695383G>C c.4830C>G c.(4828-4830)gtC>gtG p.V1610V LGG 12 39725524 39725524 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:39725524G>A c.3121C>T c.(3121-3123)Cta>Tta p.L1041L LGG 12 39761740 39761740 + Missense_Mutation SNP G G C TCGA-HT-7689-01A-11D-2253-08 TCGA-HT-7689-10A-01D-2253-08 g.chr12:39761740G>C c.545C>G c.(544-546)aCt>aGt p.T182S LGG 12 39763607 39763607 + Missense_Mutation SNP A A G TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 g.chr12:39763607A>G c.374T>C c.(373-375)aTt>aCt p.I125T LGG 12 39763628 39763628 + Missense_Mutation SNP A A C TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 g.chr12:39763628A>C c.353T>G c.(352-354)gTt>gGt p.V118G LGG 12 39763653 39763653 + Nonsense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:39763653C>A c.328G>T c.(328-330)Gaa>Taa p.E110* LIHC 12 39688230 39688230 + Missense_Mutation SNP T T C TCGA-DD-A11B-01A-11D-A12Z-10 TCGA-DD-A11B-11A-11D-A12Z-10 g.chr12:39688230T>C c.5021A>G c.(5020-5022)aAt>aGt p.N1674S LIHC 12 39688246 39688246 + Frame_Shift_Del DEL C C - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr12:39688246delC c.5005delG c.(5005-5007)gaafs p.E1669fs LIHC 12 39726081 39726081 + Missense_Mutation SNP T T C TCGA-DD-AADV-01A-11D-A38X-10 TCGA-DD-AADV-10A-01D-A38X-10 g.chr12:39726081T>C c.2986A>G c.(2986-2988)Atc>Gtc p.I996V LIHC 12 39726715 39726715 + Silent SNP C C G TCGA-DD-A114-01A-11D-A12Z-10 TCGA-DD-A114-10A-01D-A12Z-10 g.chr12:39726715C>G c.2682G>C c.(2680-2682)acG>acC p.T894T LIHC 12 39727052 39727052 + Nonsense_Mutation SNP T T A TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr12:39727052T>A c.2449A>T c.(2449-2451)Aga>Tga p.R817* LIHC 12 39735325 39735325 + Missense_Mutation SNP A A C TCGA-DD-AADD-01A-11D-A40R-10 TCGA-DD-AADD-10A-01D-A40U-10 g.chr12:39735325A>C c.1903T>G c.(1903-1905)Tct>Gct p.S635A LIHC 12 39756972 39756972 + Missense_Mutation SNP T T A TCGA-DD-AADO-01A-11D-A40R-10 TCGA-DD-AADO-10A-01D-A40U-10 g.chr12:39756972T>A c.947A>T c.(946-948)aAg>aTg p.K316M LUAD 12 39698630 39698630 + Missense_Mutation SNP T T A TCGA-17-Z023-01A-01W-0746-08 TCGA-17-Z023-11A-01W-0746-08 g.chr12:39698630T>A c.4553A>T c.(4552-4554)tAc>tTc p.Y1518F LUAD 12 39701384 39701384 + Missense_Mutation SNP C C G TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 g.chr12:39701384C>G c.4425G>C c.(4423-4425)agG>agC p.R1475S LUAD 12 39701509 39701509 + Nonsense_Mutation SNP C C A TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chr12:39701509C>A c.4300G>T c.(4300-4302)Gga>Tga p.G1434* LUAD 12 39703569 39703569 + Splice_Site SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 g.chr12:39703569C>A c.e33-1 LUAD 12 39705243 39705243 + Missense_Mutation SNP C C T TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr12:39705243C>T c.4072G>A c.(4072-4074)Gat>Aat p.D1358N LUAD 12 39713809 39713809 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 g.chr12:39713809C>A c.3678G>T c.(3676-3678)agG>agT p.R1226S LUAD 12 39713810 39713810 + Missense_Mutation SNP C C A TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 g.chr12:39713810C>A c.3677G>T c.(3676-3678)aGg>aTg p.R1226M LUAD 12 39716581 39716581 + Missense_Mutation SNP G G A TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 g.chr12:39716581G>A c.3560C>T c.(3559-3561)aCa>aTa p.T1187I LUAD 12 39725586 39725586 + Missense_Mutation SNP C C G TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 g.chr12:39725586C>G c.3059G>C c.(3058-3060)gGt>gCt p.G1020A LUAD 12 39726099 39726099 + Nonsense_Mutation SNP C C A TCGA-44-7667-01A-31D-2063-08 TCGA-44-7667-10A-01D-2063-08 g.chr12:39726099C>A c.2968G>T c.(2968-2970)Gag>Tag p.E990* LUAD 12 39726892 39726892 + Frame_Shift_Del DEL C C - TCGA-L9-A443-01A-12D-A24D-08 TCGA-L9-A443-10A-01D-A24F-08 g.chr12:39726892delC c.2505delG c.(2503-2505)cggfs p.R835fs LUAD 12 39726893 39726893 + Missense_Mutation SNP C C G TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr12:39726893C>G c.2504G>C c.(2503-2505)cGg>cCg p.R835P LUAD 12 39726894 39726894 + Missense_Mutation SNP G G A TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr12:39726894G>A c.2503C>T c.(2503-2505)Cgg>Tgg p.R835W LUAD 12 39726905 39726905 + Missense_Mutation SNP G G C TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr12:39726905G>C c.2492C>G c.(2491-2493)aCg>aGg p.T831R LUAD 12 39734045 39734045 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chr12:39734045C>A c.2232G>T c.(2230-2232)agG>agT p.R744S LUAD 12 39734749 39734749 + Missense_Mutation SNP C C A TCGA-69-7974-01A-11D-2184-08 TCGA-69-7974-10A-01D-2184-08 g.chr12:39734749C>A c.2069G>T c.(2068-2070)cGg>cTg p.R690L LUAD 12 39734815 39734815 + Missense_Mutation SNP T T A TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 g.chr12:39734815T>A c.2003A>T c.(2002-2004)cAg>cTg p.Q668L LUAD 12 39735403 39735403 + Missense_Mutation SNP C C A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr12:39735403C>A c.1825G>T c.(1825-1827)Gat>Tat p.D609Y LUAD 12 39735871 39735871 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr12:39735871C>A c.1768G>T c.(1768-1770)Ggt>Tgt p.G590C LUAD 12 39735910 39735910 + Missense_Mutation SNP C C A TCGA-MN-A4N5-01A-11D-A24P-08 TCGA-MN-A4N5-10A-01D-A24P-08 g.chr12:39735910C>A c.1729G>T c.(1729-1731)Gat>Tat p.D577Y LUAD 12 39750632 39750632 + Splice_Site SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 g.chr12:39750632A>G c.e10+1 LUAD 12 39751055 39751055 + Missense_Mutation SNP C C A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr12:39751055C>A c.1400G>T c.(1399-1401)aGa>aTa p.R467I LUAD 12 39751058 39751058 + Missense_Mutation SNP G G A TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr12:39751058G>A c.1397C>T c.(1396-1398)gCc>gTc p.A466V LUAD 12 39751210 39751210 + Silent SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 g.chr12:39751210C>T c.1245G>A c.(1243-1245)gtG>gtA p.V415V LUAD 12 39752118 39752118 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 g.chr12:39752118T>A c.1077A>T c.(1075-1077)ttA>ttT p.L359F LUAD 12 39752135 39752135 + Missense_Mutation SNP C C G TCGA-MP-A4T4-01A-11D-A25L-08 TCGA-MP-A4T4-10A-01D-A25L-08 g.chr12:39752135C>G c.1060G>C c.(1060-1062)Gac>Cac p.D354H LUAD 12 39756909 39756909 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 g.chr12:39756909C>A c.1010G>T c.(1009-1011)gGg>gTg p.G337V LUAD 12 39761691 39761691 + Silent SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr12:39761691T>C c.594A>G c.(592-594)gaA>gaG p.E198E LUAD 12 39761735 39761735 + Nonsense_Mutation SNP C C A TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 g.chr12:39761735C>A c.550G>T c.(550-552)Gga>Tga p.G184* LUAD 12 39763916 39763916 + Silent SNP G G A TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 g.chr12:39763916G>A c.192C>T c.(190-192)atC>atT p.I64I LUSC 12 39695313 39695313 + Missense_Mutation SNP C C G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr12:39695313C>G c.4900G>C c.(4900-4902)Gtt>Ctt p.V1634L LUSC 12 39716583 39716583 + Silent SNP G G T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr12:39716583G>T c.3558C>A c.(3556-3558)ctC>ctA p.L1186L LUSC 12 39726780 39726780 + Missense_Mutation SNP C C A TCGA-66-2763-01A-01D-1522-08 TCGA-66-2763-11A-01D-1522-08 g.chr12:39726780C>A c.2617G>T c.(2617-2619)Gca>Tca p.A873S LUSC 12 39726900 39726900 + Missense_Mutation SNP G G C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr12:39726900G>C c.2497C>G c.(2497-2499)Ctt>Gtt p.L833V LUSC 12 39734052 39734052 + Missense_Mutation SNP T T A TCGA-21-5784-01A-01D-1632-08 TCGA-21-5784-10A-01D-1632-08 g.chr12:39734052T>A c.2225A>T c.(2224-2226)cAt>cTt p.H742L LUSC 12 39734805 39734805 + Silent SNP C C A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr12:39734805C>A c.2013G>T c.(2011-2013)ctG>ctT p.L671L LUSC 12 39735383 39735383 + Missense_Mutation SNP C C A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 g.chr12:39735383C>A c.1845G>T c.(1843-1845)gaG>gaT p.E615D LUSC 12 39751147 39751147 + Silent SNP A A T TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 g.chr12:39751147A>T c.1308T>A c.(1306-1308)cgT>cgA p.R436R LUSC 12 39751147 39751147 + Silent SNP A A T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr12:39751147A>T c.1308T>A c.(1306-1308)cgT>cgA p.R436R LUSC 12 39752079 39752079 + Missense_Mutation SNP C C G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 g.chr12:39752079C>G c.1116G>C c.(1114-1116)aaG>aaC p.K372N LUSC 12 39756974 39756974 + Missense_Mutation SNP G G C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 g.chr12:39756974G>C c.945C>G c.(943-945)agC>agG p.S315R LUSC 12 39760235 39760235 + Missense_Mutation SNP C C G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 g.chr12:39760235C>G c.820G>C c.(820-822)Gat>Cat p.D274H LUSC 12 39763666 39763666 + Silent SNP G G A TCGA-60-2711-01A-01D-1522-08 TCGA-60-2711-11A-01D-1522-08 g.chr12:39763666G>A c.315C>T c.(313-315)aaC>aaT p.N105N OV 12 39695437 39695437 + Silent SNP C C A TCGA-25-1322-01A-01W-0494-09 TCGA-25-1322-10A-01W-0494-09 g.chr12:39695437C>A c.4776G>T c.(4774-4776)gtG>gtT p.V1592V OV 12 39703478 39703478 + Missense_Mutation SNP C C T TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 g.chr12:39703478C>T c.4187G>A c.(4186-4188)tGt>tAt p.C1396Y OV 12 39726178 39726178 + Silent SNP T T C TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 g.chr12:39726178T>C c.2889A>G c.(2887-2889)aaA>aaG p.K963K OV 12 39734074 39734074 + Missense_Mutation SNP G G A TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 g.chr12:39734074G>A c.2203C>T c.(2203-2205)Ctt>Ttt p.L735F OV 12 39734077 39734077 + Nonsense_Mutation SNP T T A TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 g.chr12:39734077T>A c.2200A>T c.(2200-2202)Aga>Tga p.R734* OV 12 39735346 39735346 + Missense_Mutation SNP C C T TCGA-24-1842-01A-01W-0639-09 TCGA-24-1842-10A-01W-0639-09 g.chr12:39735346C>T c.1882G>A c.(1882-1884)Gaa>Aaa p.E628K OV 12 39751232 39751232 + Missense_Mutation SNP C C G TCGA-13-2059-01A-01D-1526-09 TCGA-13-2059-10A-01D-1526-09 g.chr12:39751232C>G c.1223G>C c.(1222-1224)aGa>aCa p.R408T OV 12 39760843 39760843 + Missense_Mutation SNP G G T TCGA-29-1707-01A-01W-0633-09 TCGA-29-1707-10A-01W-0633-09 g.chr12:39760843G>T c.724C>A c.(724-726)Caa>Aaa p.Q242K PAAD 12 39711958 39711958 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:39711958G>A c.3825C>T c.(3823-3825)tcC>tcT p.S1275S PAAD 12 39713771 39713771 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:39713771G>T c.3716C>A c.(3715-3717)tCt>tAt p.S1239Y PAAD 12 39713783 39713784 + Frame_Shift_Ins INS - - T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 g.chr12:39713783_39713784insT c.3703_3704insA c.(3703-3705)attfs p.I1235fs PAAD 12 39713783 39713784 + Frame_Shift_Ins INS - - T TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 g.chr12:39713783_39713784insT c.3703_3704insA c.(3703-3705)attfs p.I1235fs PAAD 12 39727052 39727052 + Frame_Shift_Del DEL T T - TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 g.chr12:39727052delT c.2449delA c.(2449-2451)agafs p.R817fs PAAD 12 39735383 39735383 + Silent SNP C C T TCGA-2L-AAQA-01A-21D-A38G-08 TCGA-2L-AAQA-11A-11D-A38J-08 g.chr12:39735383C>T c.1845G>A c.(1843-1845)gaG>gaA p.E615E PAAD 12 39735383 39735383 + Silent SNP C C T TCGA-H8-A6C1-01A-11D-A32N-08 TCGA-H8-A6C1-10A-01D-A32N-08 g.chr12:39735383C>T c.1845G>A c.(1843-1845)gaG>gaA p.E615E PAAD 12 39735383 39735383 + Silent SNP C C T TCGA-IB-A6UF-01A-23D-A33T-08 TCGA-IB-A6UF-10A-01D-A33W-08 g.chr12:39735383C>T c.1845G>A c.(1843-1845)gaG>gaA p.E615E PAAD 12 39735383 39735383 + Silent SNP C C T TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 g.chr12:39735383C>T c.1845G>A c.(1843-1845)gaG>gaA p.E615E PAAD 12 39752115 39752115 + Silent SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 g.chr12:39752115G>A c.1080C>T c.(1078-1080)aaC>aaT p.N360N PCPG 12 39735383 39735383 + Silent SNP C C T TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 g.chr12:39735383C>T c.1845G>A c.(1843-1845)gaG>gaA p.E615E PRAD 12 39696874 39696874 + Missense_Mutation SNP G G A TCGA-G9-6343-01A-21D-1961-08 TCGA-G9-6343-10A-01D-1961-08 g.chr12:39696874G>A c.4624C>T c.(4624-4626)Cat>Tat p.H1542Y PRAD 12 39711940 39711940 + Silent SNP A A G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:39711940A>G c.3843T>C c.(3841-3843)cgT>cgC p.R1281R PRAD 12 39727024 39727024 + Missense_Mutation SNP T T C TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 g.chr12:39727024T>C c.2477A>G c.(2476-2478)aAa>aGa p.K826R PRAD 12 39760173 39760173 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:39760173G>A c.882C>T c.(880-882)ggC>ggT p.G294G PRAD 12 39760856 39760856 + Silent SNP G G A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 g.chr12:39760856G>A c.711C>T c.(709-711)acC>acT p.T237T PRAD 12 39763969 39763969 + Missense_Mutation SNP T T G TCGA-EJ-A6RA-01A-11D-A33T-08 TCGA-EJ-A6RA-10A-01D-A33W-08 g.chr12:39763969T>G c.139A>C c.(139-141)Aag>Cag p.K47Q READ 12 39695439 39695439 + Missense_Mutation SNP C C T TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chr12:39695439C>T c.4774G>A c.(4774-4776)Gtg>Atg p.V1592M READ 12 39713817 39713817 + Splice_Site SNP T T C TCGA-CL-5917-01A-11D-1657-10 TCGA-CL-5917-10A-01D-1657-10 g.chr12:39713817T>C c.e28-2 READ 12 39716680 39716680 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:39716680C>T c.3461G>A c.(3460-3462)cGa>cAa p.R1154Q READ 12 39725513 39725513 + Missense_Mutation SNP G G T TCGA-CI-6624-01C-11D-1826-10 TCGA-CI-6624-10A-01D-1826-10 g.chr12:39725513G>T c.3132C>A c.(3130-3132)ttC>ttA p.F1044L READ 12 39726135 39726135 + Missense_Mutation SNP C C T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr12:39726135C>T c.2932G>A c.(2932-2934)Gga>Aga p.G978R READ 12 39726186 39726186 + Nonsense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:39726186G>A c.2881C>T c.(2881-2883)Cga>Tga p.R961* READ 12 39745603 39745603 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:39745603C>A c.1649G>T c.(1648-1650)aGa>aTa p.R550I READ 12 39751232 39751232 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:39751232C>A c.1223G>T c.(1222-1224)aGa>aTa p.R408I SARC 12 39727019 39727019 + Missense_Mutation SNP C C T TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 g.chr12:39727019C>T c.2482G>A c.(2482-2484)Gaa>Aaa p.E828K SARC 12 39745740 39745740 + Silent SNP T T C TCGA-DX-A3M1-01A-11D-A228-09 TCGA-DX-A3M1-10A-01D-A22A-09 g.chr12:39745740T>C c.1512A>G c.(1510-1512)cgA>cgG p.R504R SARC 12 39757000 39757000 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr12:39757000C>A c.919G>T c.(919-921)Gta>Tta p.V307L SKCM 12 39696876 39696876 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:39696876G>A c.4622C>T c.(4621-4623)cCt>cTt p.P1541L SKCM 12 39696922 39696922 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr12:39696922C>T c.4576G>A c.(4576-4578)Gaa>Aaa p.E1526K SKCM 12 39696939 39696939 + Splice_Site SNP T T G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 g.chr12:39696939T>G c.e36-2 SKCM 12 39698727 39698727 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 g.chr12:39698727C>T c.4456G>A c.(4456-4458)Gga>Aga p.G1486R SKCM 12 39703441 39703441 + Silent SNP A A G TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr12:39703441A>G c.4224T>C c.(4222-4224)tcT>tcC p.S1408S SKCM 12 39703566 39703566 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr12:39703566G>A c.4099C>T c.(4099-4101)Cgt>Tgt p.R1367C SKCM 12 39709037 39709037 + Missense_Mutation SNP G G A TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr12:39709037G>A c.3953C>T c.(3952-3954)tCc>tTc p.S1318F SKCM 12 39726502 39726502 + Missense_Mutation SNP G G A TCGA-EE-A3AH-06A-11D-A196-08 TCGA-EE-A3AH-10A-01D-A198-08 g.chr12:39726502G>A c.2747C>T c.(2746-2748)tCc>tTc p.S916F SKCM 12 39726695 39726695 + Splice_Site SNP C C T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 g.chr12:39726695C>T c.2702G>A c.(2701-2703)aGg>aAg p.R901K SKCM 12 39731002 39731002 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr12:39731002G>A c.2314C>T c.(2314-2316)Cgc>Tgc p.R772C SKCM 12 39734154 39734154 + Missense_Mutation SNP G G A TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr12:39734154G>A c.2123C>T c.(2122-2124)tCt>tTt p.S708F SKCM 12 39734772 39734772 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr12:39734772T>C c.2046A>G c.(2044-2046)ctA>ctG p.L682L SKCM 12 39752007 39752007 + Silent SNP A A G TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr12:39752007A>G c.1188T>C c.(1186-1188)ctT>ctC p.L396L SKCM 12 39752106 39752106 + Missense_Mutation SNP T T A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 g.chr12:39752106T>A c.1089A>T c.(1087-1089)aaA>aaT p.K363N SKCM 12 39752107 39752107 + Missense_Mutation SNP T T A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 g.chr12:39752107T>A c.1088A>T c.(1087-1089)aAa>aTa p.K363I SKCM 12 39752126 39752126 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr12:39752126C>T c.1069G>A c.(1069-1071)Gaa>Aaa p.E357K SKCM 12 39760859 39760859 + Silent SNP T T C TCGA-D3-A2JG-06A-11D-A196-08 TCGA-D3-A2JG-10A-01D-A198-08 g.chr12:39760859T>C c.708A>G c.(706-708)caA>caG p.Q236Q SKCM 12 39760883 39760883 + Silent SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr12:39760883G>A c.684C>T c.(682-684)gcC>gcT p.A228A SKCM 12 39760928 39760928 + Silent SNP T T C TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr12:39760928T>C c.639A>G c.(637-639)acA>acG p.T213T SKCM 12 39761753 39761753 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr12:39761753G>A c.532C>T c.(532-534)Cat>Tat p.H178Y SKCM 12 39763563 39763563 + Missense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr12:39763563G>A c.418C>T c.(418-420)Cca>Tca p.P140S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 12 39705246 39705246 single base substitution C G exon_variant BLCA-CN 12 39705246 39705246 single base substitution C G missense_variant D1304H 3910G>C BLCA-CN 12 39705246 39705246 single base substitution C G missense_variant D1320H 3958G>C BLCA-CN 12 39705246 39705246 single base substitution C G missense_variant D1344H 4030G>C BLCA-CN 12 39705246 39705246 single base substitution C G missense_variant D1357H 4069G>C BLCA-CN 12 39705246 39705246 single base substitution C G missense_variant D1358H 4072G>C BLCA-CN 12 39705246 39705246 single base substitution C G missense_variant D338H 1012G>C BLCA-CN 12 39705246 39705246 single base substitution C G missense_variant D657H 1969G>C BLCA-CN 12 39713778 39713778 single base substitution C T downstream_gene_variant BLCA-CN 12 39713778 39713778 single base substitution C T exon_variant BLCA-CN 12 39713778 39713778 single base substitution C T missense_variant E1201K 3601G>A BLCA-CN 12 39713778 39713778 single base substitution C T missense_variant E1217K 3649G>A BLCA-CN 12 39713778 39713778 single base substitution C T missense_variant E1224K 3670G>A BLCA-CN 12 39713778 39713778 single base substitution C T missense_variant E1237K 3709G>A BLCA-CN 12 39713778 39713778 single base substitution C T missense_variant E278K 832G>A BLCA-CN 12 39713778 39713778 single base substitution C T missense_variant E584K 1750G>A BLCA-CN 12 39725533 39725533 single base substitution G C downstream_gene_variant BLCA-CN 12 39725533 39725533 single base substitution G C exon_variant BLCA-CN 12 39725533 39725533 single base substitution G C missense_variant R1002G 3004C>G BLCA-CN 12 39725533 39725533 single base substitution G C missense_variant R1025G 3073C>G BLCA-CN 12 39725533 39725533 single base substitution G C missense_variant R1038G 3112C>G BLCA-CN 12 39725533 39725533 single base substitution G C missense_variant R385G 1153C>G BLCA-CN 12 39725533 39725533 single base substitution G C missense_variant R59G 175C>G BLCA-CN 12 39725533 39725533 single base substitution G C missense_variant R86G 256C>G BLCA-US 12 39703448 39703448 single base substitution G C downstream_gene_variant BLCA-US 12 39703448 39703448 single base substitution G C exon_variant BLCA-US 12 39703448 39703448 single base substitution G C stop_gained S1353* 4058C>G BLCA-US 12 39703448 39703448 single base substitution G C stop_gained S1369* 4106C>G BLCA-US 12 39703448 39703448 single base substitution G C stop_gained S1393* 4178C>G BLCA-US 12 39703448 39703448 single base substitution G C stop_gained S1406* 4217C>G BLCA-US 12 39703448 39703448 single base substitution G C stop_gained S1407* 4220C>G BLCA-US 12 39703448 39703448 single base substitution G C stop_gained S387* 1160C>G BLCA-US 12 39703448 39703448 single base substitution G C stop_gained S706* 2117C>G BLCA-US 12 39711890 39711890 single base substitution G A downstream_gene_variant BLCA-US 12 39711890 39711890 single base substitution G A intron_variant BLCA-US 12 39711890 39711890 single base substitution G A missense_variant S1262L 3785C>T BLCA-US 12 39711890 39711890 single base substitution G A missense_variant S1278L 3833C>T BLCA-US 12 39711890 39711890 single base substitution G A missense_variant S1285L 3854C>T BLCA-US 12 39711890 39711890 single base substitution G A missense_variant S1298L 3893C>T BLCA-US 12 39726896 39726896 single base substitution C T exon_variant BLCA-US 12 39726896 39726896 single base substitution C T missense_variant R181H 542G>A BLCA-US 12 39726896 39726896 single base substitution C T missense_variant R798H 2393G>A BLCA-US 12 39726896 39726896 single base substitution C T missense_variant R821H 2462G>A BLCA-US 12 39726896 39726896 single base substitution C T missense_variant R834H 2501G>A BLCA-US 12 39726896 39726896 single base substitution C T upstream_gene_variant BLCA-US 12 39726897 39726897 single base substitution G A exon_variant BLCA-US 12 39726897 39726897 single base substitution G A missense_variant R181C 541C>T BLCA-US 12 39726897 39726897 single base substitution G A missense_variant R798C 2392C>T BLCA-US 12 39726897 39726897 single base substitution G A missense_variant R821C 2461C>T BLCA-US 12 39726897 39726897 single base substitution G A missense_variant R834C 2500C>T BLCA-US 12 39726897 39726897 single base substitution G A upstream_gene_variant BLCA-US 12 39730925 39730925 single base substitution C A exon_variant BLCA-US 12 39730925 39730925 single base substitution C A missense_variant Q144H 432G>T BLCA-US 12 39730925 39730925 single base substitution C A missense_variant Q784H 2352G>T BLCA-US 12 39730925 39730925 single base substitution C A missense_variant Q797H 2391G>T BLCA-US 12 39730925 39730925 single base substitution C A upstream_gene_variant BLCA-US 12 39730987 39730987 single base substitution T C exon_variant BLCA-US 12 39730987 39730987 single base substitution T C missense_variant M124V 370A>G BLCA-US 12 39730987 39730987 single base substitution T C missense_variant M764V 2290A>G BLCA-US 12 39730987 39730987 single base substitution T C missense_variant M777V 2329A>G BLCA-US 12 39730987 39730987 single base substitution T C upstream_gene_variant BLCA-US 12 39751995 39751995 single base substitution G C synonymous_variant L223L 669C>G BLCA-US 12 39751995 39751995 single base substitution G C synonymous_variant L400L 1200C>G BLCA-US 12 39751995 39751995 single base substitution G C upstream_gene_variant BLCA-US 12 39760203 39760203 single base substitution A G synonymous_variant T107T 321T>C BLCA-US 12 39760203 39760203 single base substitution A G synonymous_variant T284T 852T>C BLCA-US 12 39761747 39761747 single base substitution C A missense_variant D180Y 538G>T BLCA-US 12 39761747 39761747 single base substitution C A upstream_gene_variant BLCA-US 12 39763563 39763563 single base substitution G T missense_variant P140T 418C>A BLCA-US 12 39763563 39763563 single base substitution G T upstream_gene_variant BOCA-FR 12 39703575 39703575 single base substitution C G intron_variant BOCA-FR 12 39703575 39703575 single base substitution C G splice_region_variant BOCA-FR 12 39714267 39714267 single base substitution C T intron_variant BRCA-EU 12 39682624 39682624 single base substitution T G downstream_gene_variant BRCA-EU 12 39683007 39683007 single base substitution T C downstream_gene_variant BRCA-EU 12 39683358 39683358 single base substitution G A downstream_gene_variant BRCA-EU 12 39684207 39684207 deletion of <=200bp G - downstream_gene_variant BRCA-EU 12 39684442 39684442 single base substitution G C downstream_gene_variant BRCA-EU 12 39686841 39686841 single base substitution T A downstream_gene_variant BRCA-EU 12 39687260 39687260 single base substitution A T 3_prime_UTR_variant BRCA-EU 12 39687260 39687260 single base substitution A T downstream_gene_variant BRCA-EU 12 39687260 39687260 single base substitution A T exon_variant BRCA-EU 12 39687570 39687570 single base substitution G C 3_prime_UTR_variant BRCA-EU 12 39687570 39687570 single base substitution G C downstream_gene_variant BRCA-EU 12 39687570 39687570 single base substitution G C exon_variant BRCA-EU 12 39688130 39688130 single base substitution T A 3_prime_UTR_variant BRCA-EU 12 39688130 39688130 single base substitution T A downstream_gene_variant BRCA-EU 12 39688130 39688130 single base substitution T A exon_variant BRCA-EU 12 39689810 39689810 single base substitution T C intron_variant BRCA-EU 12 39692468 39692468 single base substitution A T intron_variant BRCA-EU 12 39692578 39692578 single base substitution C T intron_variant BRCA-EU 12 39692941 39692941 single base substitution C T intron_variant BRCA-EU 12 39693328 39693328 single base substitution T C intron_variant BRCA-EU 12 39693913 39693913 deletion of <=200bp A - intron_variant BRCA-EU 12 39693946 39693946 single base substitution G C intron_variant BRCA-EU 12 39699841 39699841 single base substitution C T downstream_gene_variant BRCA-EU 12 39699841 39699841 single base substitution C T intron_variant BRCA-EU 12 39700097 39700097 single base substitution G C downstream_gene_variant BRCA-EU 12 39700097 39700097 single base substitution G C intron_variant BRCA-EU 12 39700889 39700889 single base substitution T A downstream_gene_variant BRCA-EU 12 39700889 39700889 single base substitution T A intron_variant BRCA-EU 12 39701172 39701172 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 39701172 39701172 deletion of <=200bp A - intron_variant BRCA-EU 12 39701397 39701397 single base substitution C T downstream_gene_variant BRCA-EU 12 39701397 39701397 single base substitution C T exon_variant BRCA-EU 12 39701397 39701397 single base substitution C T missense_variant G1418E 4253G>A BRCA-EU 12 39701397 39701397 single base substitution C T missense_variant G1434E 4301G>A BRCA-EU 12 39701397 39701397 single base substitution C T missense_variant G1458E 4373G>A BRCA-EU 12 39701397 39701397 single base substitution C T missense_variant G1471E 4412G>A BRCA-EU 12 39701397 39701397 single base substitution C T missense_variant G1472E 4415G>A BRCA-EU 12 39701397 39701397 single base substitution C T missense_variant G452E 1355G>A BRCA-EU 12 39701397 39701397 single base substitution C T missense_variant G771E 2312G>A BRCA-EU 12 39701812 39701812 single base substitution G C downstream_gene_variant BRCA-EU 12 39701812 39701812 single base substitution G C intron_variant BRCA-EU 12 39702008 39702008 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 39702008 39702008 deletion of <=200bp A - intron_variant BRCA-EU 12 39702588 39702588 single base substitution G A downstream_gene_variant BRCA-EU 12 39702588 39702588 single base substitution G A intron_variant BRCA-EU 12 39702658 39702658 single base substitution C T downstream_gene_variant BRCA-EU 12 39702658 39702658 single base substitution C T intron_variant BRCA-EU 12 39702859 39702859 insertion of <=200bp - A downstream_gene_variant BRCA-EU 12 39702859 39702859 insertion of <=200bp - A intron_variant BRCA-EU 12 39703565 39703565 single base substitution C T exon_variant BRCA-EU 12 39703565 39703565 single base substitution C T missense_variant R1314H 3941G>A BRCA-EU 12 39703565 39703565 single base substitution C T missense_variant R1330H 3989G>A BRCA-EU 12 39703565 39703565 single base substitution C T missense_variant R1354H 4061G>A BRCA-EU 12 39703565 39703565 single base substitution C T missense_variant R1367H 4100G>A BRCA-EU 12 39703565 39703565 single base substitution C T missense_variant R1368H 4103G>A BRCA-EU 12 39703565 39703565 single base substitution C T missense_variant R348H 1043G>A BRCA-EU 12 39703565 39703565 single base substitution C T missense_variant R667H 2000G>A BRCA-EU 12 39703608 39703608 single base substitution T C intron_variant BRCA-EU 12 39705175 39705175 single base substitution A T intron_variant BRCA-EU 12 39705429 39705429 deletion of <=200bp T - exon_variant BRCA-EU 12 39705429 39705429 deletion of <=200bp T - intron_variant BRCA-EU 12 39707018 39707018 deletion of <=200bp A - intron_variant BRCA-EU 12 39707018 39707018 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 39707419 39707419 single base substitution C T intron_variant BRCA-EU 12 39707419 39707419 single base substitution C T upstream_gene_variant BRCA-EU 12 39707680 39707680 single base substitution T G intron_variant BRCA-EU 12 39707680 39707680 single base substitution T G upstream_gene_variant BRCA-EU 12 39708128 39708128 single base substitution C G intron_variant BRCA-EU 12 39708128 39708128 single base substitution C G upstream_gene_variant BRCA-EU 12 39708276 39708276 single base substitution G A intron_variant BRCA-EU 12 39708276 39708276 single base substitution G A upstream_gene_variant BRCA-EU 12 39708413 39708413 single base substitution T A intron_variant BRCA-EU 12 39708413 39708413 single base substitution T A upstream_gene_variant BRCA-EU 12 39708635 39708635 single base substitution T A intron_variant BRCA-EU 12 39708635 39708635 single base substitution T A upstream_gene_variant BRCA-EU 12 39709449 39709449 single base substitution C T downstream_gene_variant BRCA-EU 12 39709449 39709449 single base substitution C T intron_variant BRCA-EU 12 39709449 39709449 single base substitution C T upstream_gene_variant BRCA-EU 12 39709950 39709950 single base substitution A C downstream_gene_variant BRCA-EU 12 39709950 39709950 single base substitution A C intron_variant BRCA-EU 12 39709950 39709950 single base substitution A C upstream_gene_variant BRCA-EU 12 39712367 39712367 single base substitution T C downstream_gene_variant BRCA-EU 12 39712367 39712367 single base substitution T C intron_variant BRCA-EU 12 39712532 39712532 single base substitution C T downstream_gene_variant BRCA-EU 12 39712532 39712532 single base substitution C T intron_variant BRCA-EU 12 39713449 39713449 single base substitution G A downstream_gene_variant BRCA-EU 12 39713449 39713449 single base substitution G A intron_variant BRCA-EU 12 39716108 39716108 single base substitution G C 3_prime_UTR_variant BRCA-EU 12 39716108 39716108 single base substitution G C intron_variant BRCA-EU 12 39716108 39716108 single base substitution G C upstream_gene_variant BRCA-EU 12 39717923 39717923 single base substitution G C intron_variant BRCA-EU 12 39717923 39717923 single base substitution G C upstream_gene_variant BRCA-EU 12 39719840 39719840 single base substitution T A downstream_gene_variant BRCA-EU 12 39719840 39719840 single base substitution T A intron_variant BRCA-EU 12 39719840 39719840 single base substitution T A upstream_gene_variant BRCA-EU 12 39721175 39721175 single base substitution G A downstream_gene_variant BRCA-EU 12 39721175 39721175 single base substitution G A intron_variant BRCA-EU 12 39722071 39722071 deletion of <=200bp C - downstream_gene_variant BRCA-EU 12 39722071 39722071 deletion of <=200bp C - intron_variant BRCA-EU 12 39722092 39722092 single base substitution G T downstream_gene_variant BRCA-EU 12 39722092 39722092 single base substitution G T intron_variant BRCA-EU 12 39723236 39723236 single base substitution G C downstream_gene_variant BRCA-EU 12 39723236 39723236 single base substitution G C intron_variant BRCA-EU 12 39723348 39723348 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 39723348 39723348 deletion of <=200bp A - intron_variant BRCA-EU 12 39723627 39723628 deletion of <=200bp TA - downstream_gene_variant BRCA-EU 12 39723627 39723628 deletion of <=200bp TA - intron_variant BRCA-EU 12 39725335 39725335 single base substitution C T downstream_gene_variant BRCA-EU 12 39725335 39725335 single base substitution C T intron_variant BRCA-EU 12 39726284 39726284 deletion of <=200bp C - downstream_gene_variant BRCA-EU 12 39726284 39726284 deletion of <=200bp C - intron_variant BRCA-EU 12 39726284 39726284 deletion of <=200bp C - upstream_gene_variant BRCA-EU 12 39727979 39727979 single base substitution G A intron_variant BRCA-EU 12 39727979 39727979 single base substitution G A upstream_gene_variant BRCA-EU 12 39728568 39728568 single base substitution G A intron_variant BRCA-EU 12 39728568 39728568 single base substitution G A upstream_gene_variant BRCA-EU 12 39728904 39728904 single base substitution G A intron_variant BRCA-EU 12 39728904 39728904 single base substitution G A upstream_gene_variant BRCA-EU 12 39729756 39729756 single base substitution T C intron_variant BRCA-EU 12 39729756 39729756 single base substitution T C upstream_gene_variant BRCA-EU 12 39731540 39731540 single base substitution A C intron_variant BRCA-EU 12 39731540 39731540 single base substitution A C upstream_gene_variant BRCA-EU 12 39731651 39731651 single base substitution C A intron_variant BRCA-EU 12 39731651 39731651 single base substitution C A upstream_gene_variant BRCA-EU 12 39732524 39732524 single base substitution A T intron_variant BRCA-EU 12 39732524 39732524 single base substitution A T upstream_gene_variant BRCA-EU 12 39732865 39732865 single base substitution G A intron_variant BRCA-EU 12 39732865 39732865 single base substitution G A upstream_gene_variant BRCA-EU 12 39733846 39733846 single base substitution A G intron_variant BRCA-EU 12 39733846 39733846 single base substitution A G upstream_gene_variant BRCA-EU 12 39734129 39734129 deletion of <=200bp T - frameshift_variant K63 BRCA-EU 12 39734129 39734129 deletion of <=200bp T - frameshift_variant K703 BRCA-EU 12 39734129 39734129 deletion of <=200bp T - frameshift_variant K716 BRCA-EU 12 39734129 39734129 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 39735015 39735015 single base substitution G A intron_variant BRCA-EU 12 39735015 39735015 single base substitution G A upstream_gene_variant BRCA-EU 12 39736373 39736373 single base substitution T C intron_variant BRCA-EU 12 39736373 39736373 single base substitution T C upstream_gene_variant BRCA-EU 12 39737345 39737345 single base substitution A G intron_variant BRCA-EU 12 39737345 39737345 single base substitution A G upstream_gene_variant BRCA-EU 12 39738966 39738966 single base substitution T G intron_variant BRCA-EU 12 39738966 39738966 single base substitution T G upstream_gene_variant BRCA-EU 12 39739464 39739464 single base substitution C G intron_variant BRCA-EU 12 39739464 39739464 single base substitution C G upstream_gene_variant BRCA-EU 12 39739832 39739832 single base substitution A C intron_variant BRCA-EU 12 39739832 39739832 single base substitution A C upstream_gene_variant BRCA-EU 12 39740743 39740743 single base substitution T C intron_variant BRCA-EU 12 39741048 39741048 single base substitution A G intron_variant BRCA-EU 12 39741466 39741466 single base substitution C T intron_variant BRCA-EU 12 39741835 39741835 single base substitution T C intron_variant BRCA-EU 12 39746815 39746815 single base substitution G C downstream_gene_variant BRCA-EU 12 39746815 39746815 single base substitution G C intron_variant BRCA-EU 12 39746858 39746858 single base substitution A T downstream_gene_variant BRCA-EU 12 39746858 39746858 single base substitution A T intron_variant BRCA-EU 12 39747076 39747076 single base substitution C A downstream_gene_variant BRCA-EU 12 39747076 39747076 single base substitution C A intron_variant BRCA-EU 12 39747557 39747557 single base substitution G C downstream_gene_variant BRCA-EU 12 39747557 39747557 single base substitution G C intron_variant BRCA-EU 12 39747821 39747821 single base substitution C G downstream_gene_variant BRCA-EU 12 39747821 39747821 single base substitution C G intron_variant BRCA-EU 12 39748306 39748306 single base substitution G C downstream_gene_variant BRCA-EU 12 39748306 39748306 single base substitution G C intron_variant BRCA-EU 12 39748627 39748633 deletion of <=200bp TATATAC - downstream_gene_variant BRCA-EU 12 39748627 39748633 deletion of <=200bp TATATAC - intron_variant BRCA-EU 12 39749219 39749219 single base substitution C T downstream_gene_variant BRCA-EU 12 39749219 39749219 single base substitution C T intron_variant BRCA-EU 12 39750206 39750206 single base substitution C T downstream_gene_variant BRCA-EU 12 39750206 39750206 single base substitution C T intron_variant BRCA-EU 12 39751312 39751312 single base substitution T C intron_variant BRCA-EU 12 39751312 39751312 single base substitution T C upstream_gene_variant BRCA-EU 12 39751831 39751831 single base substitution A C intron_variant BRCA-EU 12 39751831 39751831 single base substitution A C upstream_gene_variant BRCA-EU 12 39751863 39751863 single base substitution G T intron_variant BRCA-EU 12 39751863 39751863 single base substitution G T upstream_gene_variant BRCA-EU 12 39751988 39751988 single base substitution A G missense_variant Y226H 676T>C BRCA-EU 12 39751988 39751988 single base substitution A G missense_variant Y403H 1207T>C BRCA-EU 12 39751988 39751988 single base substitution A G upstream_gene_variant BRCA-EU 12 39752493 39752493 single base substitution G T intron_variant BRCA-EU 12 39752493 39752493 single base substitution G T upstream_gene_variant BRCA-EU 12 39756577 39756577 single base substitution G C intron_variant BRCA-EU 12 39757462 39757462 deletion of <=200bp A - intron_variant BRCA-EU 12 39758813 39758813 deletion of <=200bp T - intron_variant BRCA-EU 12 39760995 39760995 single base substitution A C intron_variant BRCA-EU 12 39760995 39760995 single base substitution A C splice_region_variant BRCA-EU 12 39763264 39763264 deletion of <=200bp A - intron_variant BRCA-EU 12 39763264 39763264 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 39763673 39763673 single base substitution T A missense_variant D103V 308A>T BRCA-EU 12 39763673 39763673 single base substitution T A upstream_gene_variant BRCA-EU 12 39764918 39764918 single base substitution G T intron_variant BRCA-EU 12 39764918 39764918 single base substitution G T upstream_gene_variant BRCA-EU 12 39765036 39765036 single base substitution T C intron_variant BRCA-EU 12 39765036 39765036 single base substitution T C upstream_gene_variant BRCA-EU 12 39765296 39765296 single base substitution T C intron_variant BRCA-EU 12 39765296 39765296 single base substitution T C upstream_gene_variant BRCA-EU 12 39765553 39765553 single base substitution G A intron_variant BRCA-EU 12 39765553 39765553 single base substitution G A upstream_gene_variant BRCA-EU 12 39765889 39765889 single base substitution T C intron_variant BRCA-EU 12 39765889 39765889 single base substitution T C upstream_gene_variant BRCA-EU 12 39766783 39766783 insertion of <=200bp - A intron_variant BRCA-EU 12 39767848 39767848 single base substitution G C intron_variant BRCA-EU 12 39768265 39768265 single base substitution G C intron_variant BRCA-EU 12 39768463 39768463 deletion of <=200bp A - intron_variant BRCA-EU 12 39769027 39769027 single base substitution T A intron_variant BRCA-EU 12 39770313 39770313 single base substitution G A intron_variant BRCA-EU 12 39771662 39771662 single base substitution G T intron_variant BRCA-EU 12 39771679 39771679 single base substitution A T intron_variant BRCA-EU 12 39772243 39772245 deletion of <=200bp ATT - intron_variant BRCA-EU 12 39773079 39773079 single base substitution G A intron_variant BRCA-EU 12 39773471 39773471 single base substitution G T intron_variant BRCA-EU 12 39775578 39775578 single base substitution G A intron_variant BRCA-EU 12 39775646 39775646 single base substitution G T intron_variant BRCA-EU 12 39777679 39777679 single base substitution A T intron_variant BRCA-EU 12 39778349 39778349 single base substitution G A intron_variant BRCA-EU 12 39778386 39778386 deletion of <=200bp T - intron_variant BRCA-EU 12 39780204 39780204 single base substitution G C intron_variant BRCA-EU 12 39782217 39782217 single base substitution C T intron_variant BRCA-EU 12 39783244 39783244 single base substitution A G intron_variant BRCA-EU 12 39784052 39784052 single base substitution A C intron_variant BRCA-EU 12 39784265 39784265 single base substitution T C intron_variant BRCA-EU 12 39784295 39784295 deletion of <=200bp A - intron_variant BRCA-EU 12 39784496 39784496 single base substitution A C intron_variant BRCA-EU 12 39785653 39785653 single base substitution G T intron_variant BRCA-EU 12 39786979 39786979 single base substitution G T intron_variant BRCA-EU 12 39788215 39788215 single base substitution T C intron_variant BRCA-EU 12 39788363 39788363 single base substitution T A intron_variant BRCA-EU 12 39788364 39788364 single base substitution T G intron_variant BRCA-EU 12 39790577 39790577 single base substitution A G intron_variant BRCA-EU 12 39792186 39792186 single base substitution G C intron_variant BRCA-EU 12 39792306 39792306 single base substitution G T intron_variant BRCA-EU 12 39792442 39792442 single base substitution G A intron_variant BRCA-EU 12 39793678 39793678 single base substitution G A intron_variant BRCA-EU 12 39794665 39794665 deletion of <=200bp A - intron_variant BRCA-EU 12 39795059 39795059 single base substitution G C intron_variant BRCA-EU 12 39796302 39796302 single base substitution C A intron_variant BRCA-EU 12 39796303 39796303 single base substitution C A intron_variant BRCA-EU 12 39796411 39796411 single base substitution G A intron_variant BRCA-EU 12 39796882 39796882 single base substitution G A intron_variant BRCA-EU 12 39797934 39797934 single base substitution G A intron_variant BRCA-EU 12 39798049 39798049 single base substitution C T intron_variant BRCA-EU 12 39799521 39799521 single base substitution A C intron_variant BRCA-EU 12 39800785 39800785 single base substitution A G intron_variant BRCA-EU 12 39801207 39801207 single base substitution C G intron_variant BRCA-EU 12 39802778 39802778 single base substitution C T intron_variant BRCA-EU 12 39803063 39803063 deletion of <=200bp T - intron_variant BRCA-EU 12 39803184 39803184 insertion of <=200bp - A intron_variant BRCA-EU 12 39804251 39804253 deletion of <=200bp AAG - intron_variant BRCA-EU 12 39804327 39804327 deletion of <=200bp A - intron_variant BRCA-EU 12 39804746 39804746 single base substitution T A intron_variant BRCA-EU 12 39805195 39805195 single base substitution G A intron_variant BRCA-EU 12 39805599 39805599 single base substitution G A intron_variant BRCA-EU 12 39806427 39806427 single base substitution G A intron_variant BRCA-EU 12 39807619 39807619 deletion of <=200bp T - intron_variant BRCA-EU 12 39807639 39807639 single base substitution G A intron_variant BRCA-EU 12 39807757 39807757 single base substitution G A intron_variant BRCA-EU 12 39808368 39808368 single base substitution A T intron_variant BRCA-EU 12 39808379 39808379 single base substitution A G intron_variant BRCA-EU 12 39808850 39808850 single base substitution G C intron_variant BRCA-EU 12 39809350 39809350 single base substitution C T intron_variant BRCA-EU 12 39809935 39809935 deletion of <=200bp A - intron_variant BRCA-EU 12 39810369 39810369 single base substitution G A intron_variant BRCA-EU 12 39810968 39810968 deletion of <=200bp A - intron_variant BRCA-EU 12 39811890 39811890 single base substitution G C intron_variant BRCA-EU 12 39812185 39812185 single base substitution A T intron_variant BRCA-EU 12 39812245 39812245 single base substitution G T intron_variant BRCA-EU 12 39815814 39815814 single base substitution C T intron_variant BRCA-EU 12 39816960 39816960 single base substitution C G intron_variant BRCA-EU 12 39817105 39817105 insertion of <=200bp - T intron_variant BRCA-EU 12 39817992 39817992 single base substitution G A intron_variant BRCA-EU 12 39820941 39820941 single base substitution G C intron_variant BRCA-EU 12 39821409 39821409 single base substitution G C intron_variant BRCA-EU 12 39821451 39821451 single base substitution T C intron_variant BRCA-EU 12 39821563 39821563 single base substitution C G intron_variant BRCA-EU 12 39822753 39822753 single base substitution C T intron_variant BRCA-EU 12 39825309 39825309 single base substitution T A intron_variant BRCA-EU 12 39825762 39825762 single base substitution T A intron_variant BRCA-EU 12 39826344 39826344 single base substitution G C intron_variant BRCA-EU 12 39826720 39826720 single base substitution G T intron_variant BRCA-EU 12 39827688 39827688 single base substitution G A intron_variant BRCA-EU 12 39827718 39827718 single base substitution G C intron_variant BRCA-EU 12 39829617 39829617 single base substitution G A intron_variant BRCA-EU 12 39830393 39830393 single base substitution A T intron_variant BRCA-EU 12 39830414 39830414 single base substitution A G intron_variant BRCA-EU 12 39831378 39831378 deletion of <=200bp A - intron_variant BRCA-EU 12 39831429 39831429 single base substitution A T intron_variant BRCA-EU 12 39831711 39831711 single base substitution G A intron_variant BRCA-EU 12 39833003 39833003 single base substitution C T intron_variant BRCA-EU 12 39833457 39833457 single base substitution A G intron_variant BRCA-EU 12 39833932 39833932 single base substitution A G intron_variant BRCA-EU 12 39836629 39836629 single base substitution G T intron_variant BRCA-EU 12 39837017 39837017 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 12 39837017 39837017 single base substitution G C upstream_gene_variant BRCA-EU 12 39838497 39838497 single base substitution G A upstream_gene_variant BRCA-EU 12 39838831 39838831 single base substitution G C upstream_gene_variant BRCA-EU 12 39839486 39839486 single base substitution C A upstream_gene_variant BRCA-FR 12 39693946 39693946 single base substitution G C intron_variant BRCA-FR 12 39700825 39700825 single base substitution A G downstream_gene_variant BRCA-FR 12 39700825 39700825 single base substitution A G intron_variant BRCA-FR 12 39717923 39717923 single base substitution G C intron_variant BRCA-FR 12 39717923 39717923 single base substitution G C upstream_gene_variant BRCA-FR 12 39727979 39727979 single base substitution G A intron_variant BRCA-FR 12 39727979 39727979 single base substitution G A upstream_gene_variant BRCA-FR 12 39728568 39728568 single base substitution G A intron_variant BRCA-FR 12 39728568 39728568 single base substitution G A upstream_gene_variant BRCA-FR 12 39728904 39728904 single base substitution G A intron_variant BRCA-FR 12 39728904 39728904 single base substitution G A upstream_gene_variant BRCA-FR 12 39734908 39734908 single base substitution A G intron_variant BRCA-FR 12 39734908 39734908 single base substitution A G upstream_gene_variant BRCA-FR 12 39736373 39736373 single base substitution T C intron_variant BRCA-FR 12 39736373 39736373 single base substitution T C upstream_gene_variant BRCA-FR 12 39738966 39738966 single base substitution T G intron_variant BRCA-FR 12 39738966 39738966 single base substitution T G upstream_gene_variant BRCA-FR 12 39739832 39739832 single base substitution A C intron_variant BRCA-FR 12 39739832 39739832 single base substitution A C upstream_gene_variant BRCA-FR 12 39752493 39752493 single base substitution G T intron_variant BRCA-FR 12 39752493 39752493 single base substitution G T upstream_gene_variant BRCA-FR 12 39765889 39765889 single base substitution T C intron_variant BRCA-FR 12 39765889 39765889 single base substitution T C upstream_gene_variant BRCA-FR 12 39768265 39768265 single base substitution G C intron_variant BRCA-FR 12 39772520 39772520 single base substitution G A intron_variant BRCA-FR 12 39773471 39773471 single base substitution G T intron_variant BRCA-FR 12 39776459 39776459 single base substitution G A intron_variant BRCA-FR 12 39778349 39778349 single base substitution G A intron_variant BRCA-FR 12 39791595 39791595 single base substitution C A intron_variant BRCA-FR 12 39792442 39792442 single base substitution G A intron_variant BRCA-FR 12 39794374 39794374 single base substitution G C intron_variant BRCA-FR 12 39808368 39808368 single base substitution A T intron_variant BRCA-FR 12 39815279 39815279 single base substitution G A intron_variant BRCA-FR 12 39820285 39820285 single base substitution A G intron_variant BRCA-FR 12 39821409 39821409 single base substitution G C intron_variant BRCA-FR 12 39827718 39827718 single base substitution G C intron_variant BRCA-FR 12 39838025 39838025 single base substitution T A upstream_gene_variant BRCA-FR 12 39839104 39839104 single base substitution C G upstream_gene_variant BRCA-UK 12 39698021 39698021 single base substitution C G intron_variant BRCA-UK 12 39698089 39698089 single base substitution C G intron_variant BRCA-UK 12 39705175 39705175 single base substitution A T intron_variant BRCA-UK 12 39707680 39707680 single base substitution T G intron_variant BRCA-UK 12 39707680 39707680 single base substitution T G upstream_gene_variant BRCA-UK 12 39713296 39713296 single base substitution C T downstream_gene_variant BRCA-UK 12 39713296 39713296 single base substitution C T intron_variant BRCA-UK 12 39723210 39723210 single base substitution C G downstream_gene_variant BRCA-UK 12 39723210 39723210 single base substitution C G intron_variant BRCA-UK 12 39745142 39745142 single base substitution G C intron_variant BRCA-UK 12 39756457 39756457 single base substitution G A intron_variant BRCA-UK 12 39796836 39796836 single base substitution T C intron_variant BRCA-UK 12 39805599 39805599 single base substitution G A intron_variant BRCA-UK 12 39814511 39814511 single base substitution C G intron_variant BRCA-US 12 39711890 39711890 single base substitution G A downstream_gene_variant BRCA-US 12 39711890 39711890 single base substitution G A intron_variant BRCA-US 12 39711890 39711890 single base substitution G A missense_variant S1262L 3785C>T BRCA-US 12 39711890 39711890 single base substitution G A missense_variant S1278L 3833C>T BRCA-US 12 39711890 39711890 single base substitution G A missense_variant S1285L 3854C>T BRCA-US 12 39711890 39711890 single base substitution G A missense_variant S1298L 3893C>T BRCA-US 12 39716479 39716479 single base substitution A G exon_variant BRCA-US 12 39716479 39716479 single base substitution A G intron_variant BRCA-US 12 39716479 39716479 single base substitution A G missense_variant I1185T 3554T>C BRCA-US 12 39716479 39716479 single base substitution A G missense_variant I1201T 3602T>C BRCA-US 12 39716479 39716479 single base substitution A G missense_variant I1208T 3623T>C BRCA-US 12 39716479 39716479 single base substitution A G missense_variant I1221T 3662T>C BRCA-US 12 39716479 39716479 single base substitution A G missense_variant I262T 785T>C BRCA-US 12 39716479 39716479 single base substitution A G missense_variant I568T 1703T>C BRCA-US 12 39716479 39716479 single base substitution A G upstream_gene_variant BRCA-US 12 39725549 39725549 single base substitution G A downstream_gene_variant BRCA-US 12 39725549 39725549 single base substitution G A exon_variant BRCA-US 12 39725549 39725549 single base substitution G A synonymous_variant C1019C 3057C>T BRCA-US 12 39725549 39725549 single base substitution G A synonymous_variant C1032C 3096C>T BRCA-US 12 39725549 39725549 single base substitution G A synonymous_variant C379C 1137C>T BRCA-US 12 39725549 39725549 single base substitution G A synonymous_variant C53C 159C>T BRCA-US 12 39725549 39725549 single base substitution G A synonymous_variant C80C 240C>T BRCA-US 12 39725549 39725549 single base substitution G A synonymous_variant C996C 2988C>T BRCA-US 12 39726826 39726826 single base substitution T G downstream_gene_variant BRCA-US 12 39726826 39726826 single base substitution T G exon_variant BRCA-US 12 39726826 39726826 single base substitution T G synonymous_variant A204A 612A>C BRCA-US 12 39726826 39726826 single base substitution T G synonymous_variant A821A 2463A>C BRCA-US 12 39726826 39726826 single base substitution T G synonymous_variant A844A 2532A>C BRCA-US 12 39726826 39726826 single base substitution T G synonymous_variant A857A 2571A>C BRCA-US 12 39726826 39726826 single base substitution T G upstream_gene_variant BRCA-US 12 39734847 39734847 insertion of <=200bp - TTAA frameshift_variant K4KL? BRCA-US 12 39734847 39734847 insertion of <=200bp - TTAA frameshift_variant K644KL? BRCA-US 12 39734847 39734847 insertion of <=200bp - TTAA frameshift_variant K657KL? BRCA-US 12 39734847 39734847 insertion of <=200bp - TTAA upstream_gene_variant BRCA-US 12 39752014 39752014 single base substitution G A missense_variant T217I 650C>T BRCA-US 12 39752014 39752014 single base substitution G A missense_variant T394I 1181C>T BRCA-US 12 39752014 39752014 single base substitution G A upstream_gene_variant BRCA-US 12 39763645 39763645 single base substitution A G synonymous_variant G112G 336T>C BRCA-US 12 39763645 39763645 single base substitution A G upstream_gene_variant BRCA-US 12 39764027 39764027 single base substitution T C synonymous_variant G27G 81A>G BRCA-US 12 39764027 39764027 single base substitution T C upstream_gene_variant BTCA-JP 12 39695434 39695434 single base substitution C T exon_variant BTCA-JP 12 39695434 39695434 single base substitution C T synonymous_variant V1540V 4620G>A BTCA-JP 12 39695434 39695434 single base substitution C T synonymous_variant V1556V 4668G>A BTCA-JP 12 39695434 39695434 single base substitution C T synonymous_variant V1580V 4740G>A BTCA-JP 12 39695434 39695434 single base substitution C T synonymous_variant V1593V 4779G>A BTCA-JP 12 39695434 39695434 single base substitution C T synonymous_variant V1594V 4782G>A BTCA-JP 12 39695434 39695434 single base substitution C T synonymous_variant V574V 1722G>A BTCA-JP 12 39695434 39695434 single base substitution C T synonymous_variant V893V 2679G>A BTCA-JP 12 39719744 39719744 single base substitution T C downstream_gene_variant BTCA-JP 12 39719744 39719744 single base substitution T C intron_variant BTCA-JP 12 39719744 39719744 single base substitution T C upstream_gene_variant BTCA-JP 12 39726164 39726166 deletion of <=200bp CTT - disruptive_inframe_deletion RR15R BTCA-JP 12 39726164 39726166 deletion of <=200bp CTT - disruptive_inframe_deletion RR314R BTCA-JP 12 39726164 39726166 deletion of <=200bp CTT - disruptive_inframe_deletion RR931R BTCA-JP 12 39726164 39726166 deletion of <=200bp CTT - disruptive_inframe_deletion RR954R BTCA-JP 12 39726164 39726166 deletion of <=200bp CTT - disruptive_inframe_deletion RR967R BTCA-JP 12 39726164 39726166 deletion of <=200bp CTT - downstream_gene_variant BTCA-JP 12 39726164 39726166 deletion of <=200bp CTT - exon_variant BTCA-JP 12 39726164 39726166 deletion of <=200bp CTT - upstream_gene_variant BTCA-JP 12 39726595 39726595 single base substitution A G downstream_gene_variant BTCA-JP 12 39726595 39726595 single base substitution A G intron_variant BTCA-JP 12 39726595 39726595 single base substitution A G upstream_gene_variant BTCA-JP 12 39735929 39735929 deletion of <=200bp A - splice_region_variant BTCA-JP 12 39735929 39735929 deletion of <=200bp A - upstream_gene_variant BTCA-JP 12 39752011 39752011 single base substitution C T missense_variant R218Q 653G>A BTCA-JP 12 39752011 39752011 single base substitution C T missense_variant R395Q 1184G>A BTCA-JP 12 39752011 39752011 single base substitution C T upstream_gene_variant BTCA-JP 12 39763909 39763909 single base substitution G A stop_gained Q67* 199C>T BTCA-JP 12 39763909 39763909 single base substitution G A upstream_gene_variant CESC-US 12 39716488 39716488 single base substitution G T exon_variant CESC-US 12 39716488 39716488 single base substitution G T intron_variant CESC-US 12 39716488 39716488 single base substitution G T missense_variant P1182H 3545C>A CESC-US 12 39716488 39716488 single base substitution G T missense_variant P1198H 3593C>A CESC-US 12 39716488 39716488 single base substitution G T missense_variant P1205H 3614C>A CESC-US 12 39716488 39716488 single base substitution G T missense_variant P1218H 3653C>A CESC-US 12 39716488 39716488 single base substitution G T missense_variant P259H 776C>A CESC-US 12 39716488 39716488 single base substitution G T missense_variant P565H 1694C>A CESC-US 12 39716488 39716488 single base substitution G T upstream_gene_variant CESC-US 12 39716558 39716558 single base substitution T A exon_variant CESC-US 12 39716558 39716558 single base substitution T A intron_variant CESC-US 12 39716558 39716558 single base substitution T A missense_variant I1159F 3475A>T CESC-US 12 39716558 39716558 single base substitution T A missense_variant I1175F 3523A>T CESC-US 12 39716558 39716558 single base substitution T A missense_variant I1182F 3544A>T CESC-US 12 39716558 39716558 single base substitution T A missense_variant I1195F 3583A>T CESC-US 12 39716558 39716558 single base substitution T A missense_variant I236F 706A>T CESC-US 12 39716558 39716558 single base substitution T A missense_variant I542F 1624A>T CESC-US 12 39716558 39716558 single base substitution T A upstream_gene_variant CESC-US 12 39716559 39716559 single base substitution C G exon_variant CESC-US 12 39716559 39716559 single base substitution C G intron_variant CESC-US 12 39716559 39716559 single base substitution C G missense_variant E1158D 3474G>C CESC-US 12 39716559 39716559 single base substitution C G missense_variant E1174D 3522G>C CESC-US 12 39716559 39716559 single base substitution C G missense_variant E1181D 3543G>C CESC-US 12 39716559 39716559 single base substitution C G missense_variant E1194D 3582G>C CESC-US 12 39716559 39716559 single base substitution C G missense_variant E235D 705G>C CESC-US 12 39716559 39716559 single base substitution C G missense_variant E541D 1623G>C CESC-US 12 39716559 39716559 single base substitution C G upstream_gene_variant CESC-US 12 39730978 39730978 single base substitution C T exon_variant CESC-US 12 39730978 39730978 single base substitution C T missense_variant E127K 379G>A CESC-US 12 39730978 39730978 single base substitution C T missense_variant E767K 2299G>A CESC-US 12 39730978 39730978 single base substitution C T missense_variant E780K 2338G>A CESC-US 12 39730978 39730978 single base substitution C T upstream_gene_variant CESC-US 12 39760894 39760894 single base substitution G A missense_variant R225C 673C>T CESC-US 12 39760894 39760894 single base substitution G A missense_variant R48C 142C>T CESC-US 12 39763563 39763563 single base substitution G A missense_variant P140S 418C>T CESC-US 12 39763563 39763563 single base substitution G A upstream_gene_variant CLLE-ES 12 39695804 39695804 single base substitution A C intron_variant CLLE-ES 12 39710279 39710279 single base substitution T G downstream_gene_variant CLLE-ES 12 39710279 39710279 single base substitution T G intron_variant CLLE-ES 12 39710279 39710279 single base substitution T G upstream_gene_variant CLLE-ES 12 39729286 39729286 single base substitution C G intron_variant CLLE-ES 12 39729286 39729286 single base substitution C G upstream_gene_variant CLLE-ES 12 39737181 39737181 single base substitution A G intron_variant CLLE-ES 12 39737181 39737181 single base substitution A G upstream_gene_variant CLLE-ES 12 39744637 39744637 single base substitution G A intron_variant CLLE-ES 12 39770200 39770200 single base substitution A G intron_variant CLLE-ES 12 39828393 39828393 single base substitution C A intron_variant COAD-US 12 39701482 39701482 single base substitution G A downstream_gene_variant COAD-US 12 39701482 39701482 single base substitution G A exon_variant COAD-US 12 39701482 39701482 single base substitution G A stop_gained R1390* 4168C>T COAD-US 12 39701482 39701482 single base substitution G A stop_gained R1406* 4216C>T COAD-US 12 39701482 39701482 single base substitution G A stop_gained R1430* 4288C>T COAD-US 12 39701482 39701482 single base substitution G A stop_gained R1443* 4327C>T COAD-US 12 39701482 39701482 single base substitution G A stop_gained R1444* 4330C>T COAD-US 12 39701482 39701482 single base substitution G A stop_gained R424* 1270C>T COAD-US 12 39701482 39701482 single base substitution G A stop_gained R743* 2227C>T COAD-US 12 39701516 39701516 single base substitution A G downstream_gene_variant COAD-US 12 39701516 39701516 single base substitution A G exon_variant COAD-US 12 39701516 39701516 single base substitution A G synonymous_variant V1378V 4134T>C COAD-US 12 39701516 39701516 single base substitution A G synonymous_variant V1394V 4182T>C COAD-US 12 39701516 39701516 single base substitution A G synonymous_variant V1418V 4254T>C COAD-US 12 39701516 39701516 single base substitution A G synonymous_variant V1431V 4293T>C COAD-US 12 39701516 39701516 single base substitution A G synonymous_variant V1432V 4296T>C COAD-US 12 39701516 39701516 single base substitution A G synonymous_variant V412V 1236T>C COAD-US 12 39701516 39701516 single base substitution A G synonymous_variant V731V 2193T>C COAD-US 12 39709040 39709040 single base substitution G A downstream_gene_variant COAD-US 12 39709040 39709040 single base substitution G A intron_variant COAD-US 12 39709040 39709040 single base substitution G A missense_variant S1304F 3911C>T COAD-US 12 39709040 39709040 single base substitution G A missense_variant S1317F 3950C>T COAD-US 12 39709040 39709040 single base substitution G A upstream_gene_variant COAD-US 12 39709745 39709745 insertion of <=200bp - GA downstream_gene_variant COAD-US 12 39709745 39709745 insertion of <=200bp - GA frameshift_variant S1299S? COAD-US 12 39709745 39709745 insertion of <=200bp - GA frameshift_variant S1312S? COAD-US 12 39709745 39709745 insertion of <=200bp - GA frameshift_variant S616S? COAD-US 12 39709745 39709745 insertion of <=200bp - GA intron_variant COAD-US 12 39709745 39709745 insertion of <=200bp - GA upstream_gene_variant COAD-US 12 39711942 39711942 single base substitution G A downstream_gene_variant COAD-US 12 39711942 39711942 single base substitution G A intron_variant COAD-US 12 39711942 39711942 single base substitution G A missense_variant R1245C 3733C>T COAD-US 12 39711942 39711942 single base substitution G A missense_variant R1261C 3781C>T COAD-US 12 39711942 39711942 single base substitution G A missense_variant R1268C 3802C>T COAD-US 12 39711942 39711942 single base substitution G A missense_variant R1281C 3841C>T COAD-US 12 39713784 39713784 deletion of <=200bp T - 3_prime_UTR_variant COAD-US 12 39713784 39713784 deletion of <=200bp T - downstream_gene_variant COAD-US 12 39713784 39713784 deletion of <=200bp T - exon_variant COAD-US 12 39713784 39713784 deletion of <=200bp T - frameshift_variant I1199 COAD-US 12 39713784 39713784 deletion of <=200bp T - frameshift_variant I1215 COAD-US 12 39713784 39713784 deletion of <=200bp T - frameshift_variant I1222 COAD-US 12 39713784 39713784 deletion of <=200bp T - frameshift_variant I1235 COAD-US 12 39713784 39713784 deletion of <=200bp T - frameshift_variant I276 COAD-US 12 39713784 39713784 deletion of <=200bp T - frameshift_variant I582 COAD-US 12 39719642 39719642 single base substitution T A downstream_gene_variant COAD-US 12 39719642 39719642 single base substitution T A missense_variant K1116M 3347A>T COAD-US 12 39719642 39719642 single base substitution T A missense_variant K1132M 3395A>T COAD-US 12 39719642 39719642 single base substitution T A missense_variant K1139M 3416A>T COAD-US 12 39719642 39719642 single base substitution T A missense_variant K1152M 3455A>T COAD-US 12 39719642 39719642 single base substitution T A missense_variant K193M 578A>T COAD-US 12 39719642 39719642 single base substitution T A missense_variant K499M 1496A>T COAD-US 12 39719642 39719642 single base substitution T A splice_region_variant COAD-US 12 39719642 39719642 single base substitution T A upstream_gene_variant COAD-US 12 39725576 39725576 single base substitution C T downstream_gene_variant COAD-US 12 39725576 39725576 single base substitution C T exon_variant COAD-US 12 39725576 39725576 single base substitution C T synonymous_variant L1010L 3030G>A COAD-US 12 39725576 39725576 single base substitution C T synonymous_variant L1023L 3069G>A COAD-US 12 39725576 39725576 single base substitution C T synonymous_variant L370L 1110G>A COAD-US 12 39725576 39725576 single base substitution C T synonymous_variant L44L 132G>A COAD-US 12 39725576 39725576 single base substitution C T synonymous_variant L71L 213G>A COAD-US 12 39725576 39725576 single base substitution C T synonymous_variant L987L 2961G>A COAD-US 12 39731002 39731002 single base substitution G A exon_variant COAD-US 12 39731002 39731002 single base substitution G A missense_variant R119C 355C>T COAD-US 12 39731002 39731002 single base substitution G A missense_variant R759C 2275C>T COAD-US 12 39731002 39731002 single base substitution G A missense_variant R772C 2314C>T COAD-US 12 39731002 39731002 single base substitution G A upstream_gene_variant COAD-US 12 39733992 39733992 single base substitution T C exon_variant COAD-US 12 39733992 39733992 single base substitution T C missense_variant D109G 326A>G COAD-US 12 39733992 39733992 single base substitution T C missense_variant D749G 2246A>G COAD-US 12 39733992 39733992 single base substitution T C missense_variant D762G 2285A>G COAD-US 12 39733992 39733992 single base substitution T C upstream_gene_variant COAD-US 12 39734034 39734034 deletion of <=200bp T - exon_variant COAD-US 12 39734034 39734034 deletion of <=200bp T - frameshift_variant N735 COAD-US 12 39734034 39734034 deletion of <=200bp T - frameshift_variant N748 COAD-US 12 39734034 39734034 deletion of <=200bp T - frameshift_variant N95 COAD-US 12 39734034 39734034 deletion of <=200bp T - upstream_gene_variant COAD-US 12 39734129 39734129 deletion of <=200bp T - frameshift_variant K63 COAD-US 12 39734129 39734129 deletion of <=200bp T - frameshift_variant K703 COAD-US 12 39734129 39734129 deletion of <=200bp T - frameshift_variant K716 COAD-US 12 39734129 39734129 deletion of <=200bp T - upstream_gene_variant COAD-US 12 39735348 39735348 single base substitution C A missense_variant G614V 1841G>T COAD-US 12 39735348 39735348 single base substitution C A missense_variant G627V 1880G>T COAD-US 12 39735348 39735348 single base substitution C A upstream_gene_variant COAD-US 12 39735929 39735929 deletion of <=200bp A - splice_region_variant COAD-US 12 39735929 39735929 deletion of <=200bp A - upstream_gene_variant COAD-US 12 39745580 39745580 deletion of <=200bp T - downstream_gene_variant COAD-US 12 39745580 39745580 deletion of <=200bp T - frameshift_variant R558 COAD-US 12 39745580 39745580 deletion of <=200bp T - frameshift_variant S558 COAD-US 12 39751232 39751232 single base substitution C G missense_variant R231T 692G>C COAD-US 12 39751232 39751232 single base substitution C G missense_variant R408T 1223G>C COAD-US 12 39751232 39751232 single base substitution C G upstream_gene_variant COAD-US 12 39760184 39760184 single base substitution C T missense_variant A114T 340G>A COAD-US 12 39760184 39760184 single base substitution C T missense_variant A291T 871G>A COAD-US 12 39760249 39760249 single base substitution T A missense_variant K269M 806A>T COAD-US 12 39760249 39760249 single base substitution T A missense_variant K92M 275A>T COAD-US 12 39761707 39761707 single base substitution C T missense_variant R193H 578G>A COAD-US 12 39761707 39761707 single base substitution C T missense_variant R8H 23G>A COAD-US 12 39763922 39763922 single base substitution C T synonymous_variant E62E 186G>A COAD-US 12 39763922 39763922 single base substitution C T upstream_gene_variant COCA-CN 12 39682832 39682832 single base substitution C T downstream_gene_variant COCA-CN 12 39689821 39689821 single base substitution G T intron_variant COCA-CN 12 39695543 39695543 single base substitution G T intron_variant COCA-CN 12 39701387 39701387 single base substitution G A downstream_gene_variant COCA-CN 12 39701387 39701387 single base substitution G A exon_variant COCA-CN 12 39701387 39701387 single base substitution G A synonymous_variant V1421V 4263C>T COCA-CN 12 39701387 39701387 single base substitution G A synonymous_variant V1437V 4311C>T COCA-CN 12 39701387 39701387 single base substitution G A synonymous_variant V1461V 4383C>T COCA-CN 12 39701387 39701387 single base substitution G A synonymous_variant V1474V 4422C>T COCA-CN 12 39701387 39701387 single base substitution G A synonymous_variant V1475V 4425C>T COCA-CN 12 39701387 39701387 single base substitution G A synonymous_variant V455V 1365C>T COCA-CN 12 39701387 39701387 single base substitution G A synonymous_variant V774V 2322C>T COCA-CN 12 39703340 39703340 single base substitution A G downstream_gene_variant COCA-CN 12 39703340 39703340 single base substitution A G intron_variant COCA-CN 12 39703350 39703350 single base substitution T C downstream_gene_variant COCA-CN 12 39703350 39703350 single base substitution T C intron_variant COCA-CN 12 39703367 39703367 single base substitution A T downstream_gene_variant COCA-CN 12 39703367 39703367 single base substitution A T intron_variant COCA-CN 12 39703462 39703462 single base substitution C A downstream_gene_variant COCA-CN 12 39703462 39703462 single base substitution C A exon_variant COCA-CN 12 39703462 39703462 single base substitution C A missense_variant L1348F 4044G>T COCA-CN 12 39703462 39703462 single base substitution C A missense_variant L1364F 4092G>T COCA-CN 12 39703462 39703462 single base substitution C A missense_variant L1388F 4164G>T COCA-CN 12 39703462 39703462 single base substitution C A missense_variant L1401F 4203G>T COCA-CN 12 39703462 39703462 single base substitution C A missense_variant L1402F 4206G>T COCA-CN 12 39703462 39703462 single base substitution C A missense_variant L382F 1146G>T COCA-CN 12 39703462 39703462 single base substitution C A missense_variant L701F 2103G>T COCA-CN 12 39709080 39709080 single base substitution A C downstream_gene_variant COCA-CN 12 39709080 39709080 single base substitution A C intron_variant COCA-CN 12 39709080 39709080 single base substitution A C upstream_gene_variant COCA-CN 12 39712106 39712106 single base substitution G T downstream_gene_variant COCA-CN 12 39712106 39712106 single base substitution G T intron_variant COCA-CN 12 39726249 39726249 single base substitution C A downstream_gene_variant COCA-CN 12 39726249 39726249 single base substitution C A intron_variant COCA-CN 12 39726249 39726249 single base substitution C A upstream_gene_variant COCA-CN 12 39726283 39726283 single base substitution A C downstream_gene_variant COCA-CN 12 39726283 39726283 single base substitution A C intron_variant COCA-CN 12 39726283 39726283 single base substitution A C upstream_gene_variant COCA-CN 12 39726960 39726960 single base substitution C A intron_variant COCA-CN 12 39726960 39726960 single base substitution C A upstream_gene_variant COCA-CN 12 39731002 39731002 single base substitution G A exon_variant COCA-CN 12 39731002 39731002 single base substitution G A missense_variant R119C 355C>T COCA-CN 12 39731002 39731002 single base substitution G A missense_variant R759C 2275C>T COCA-CN 12 39731002 39731002 single base substitution G A missense_variant R772C 2314C>T COCA-CN 12 39731002 39731002 single base substitution G A upstream_gene_variant COCA-CN 12 39735872 39735872 single base substitution C A missense_variant K576N 1728G>T COCA-CN 12 39735872 39735872 single base substitution C A missense_variant K589N 1767G>T COCA-CN 12 39735872 39735872 single base substitution C A upstream_gene_variant COCA-CN 12 39751222 39751222 single base substitution G A synonymous_variant D234D 702C>T COCA-CN 12 39751222 39751222 single base substitution G A synonymous_variant D411D 1233C>T COCA-CN 12 39751222 39751222 single base substitution G A upstream_gene_variant COCA-CN 12 39752287 39752287 single base substitution A T intron_variant COCA-CN 12 39752287 39752287 single base substitution A T upstream_gene_variant COCA-CN 12 39756856 39756856 single base substitution T C intron_variant COCA-CN 12 39761069 39761069 single base substitution T A intron_variant COCA-CN 12 39763864 39763864 single base substitution C T missense_variant A82T 244G>A COCA-CN 12 39763864 39763864 single base substitution C T upstream_gene_variant COCA-CN 12 39764085 39764085 single base substitution G T intron_variant COCA-CN 12 39764085 39764085 single base substitution G T upstream_gene_variant COCA-CN 12 39783015 39783015 single base substitution T C intron_variant COCA-CN 12 39814404 39814404 single base substitution G A intron_variant COCA-CN 12 39824024 39824024 single base substitution G A intron_variant ESAD-UK 12 39682169 39682169 single base substitution A G downstream_gene_variant ESAD-UK 12 39682736 39682736 single base substitution C T downstream_gene_variant ESAD-UK 12 39683705 39683705 single base substitution G A downstream_gene_variant ESAD-UK 12 39684464 39684464 single base substitution T G downstream_gene_variant ESAD-UK 12 39684909 39684909 single base substitution C T downstream_gene_variant ESAD-UK 12 39687780 39687780 single base substitution G A 3_prime_UTR_variant ESAD-UK 12 39687780 39687780 single base substitution G A downstream_gene_variant ESAD-UK 12 39687780 39687780 single base substitution G A exon_variant ESAD-UK 12 39688262 39688262 single base substitution G A exon_variant ESAD-UK 12 39688262 39688262 single base substitution G A synonymous_variant D1610D 4830C>T ESAD-UK 12 39688262 39688262 single base substitution G A synonymous_variant D1626D 4878C>T ESAD-UK 12 39688262 39688262 single base substitution G A synonymous_variant D1650D 4950C>T ESAD-UK 12 39688262 39688262 single base substitution G A synonymous_variant D1663D 4989C>T ESAD-UK 12 39688262 39688262 single base substitution G A synonymous_variant D1664D 4992C>T ESAD-UK 12 39688262 39688262 single base substitution G A synonymous_variant D644D 1932C>T ESAD-UK 12 39688262 39688262 single base substitution G A synonymous_variant D963D 2889C>T ESAD-UK 12 39688825 39688825 single base substitution G C intron_variant ESAD-UK 12 39689181 39689181 insertion of <=200bp - A intron_variant ESAD-UK 12 39689680 39689680 single base substitution C T intron_variant ESAD-UK 12 39690226 39690226 single base substitution C T intron_variant ESAD-UK 12 39691960 39691960 single base substitution G A intron_variant ESAD-UK 12 39692897 39692897 single base substitution G C intron_variant ESAD-UK 12 39695593 39695593 single base substitution G A intron_variant ESAD-UK 12 39697365 39697365 deletion of <=200bp T - intron_variant ESAD-UK 12 39698997 39698997 single base substitution G A downstream_gene_variant ESAD-UK 12 39698997 39698997 single base substitution G A intron_variant ESAD-UK 12 39703684 39703684 single base substitution A T intron_variant ESAD-UK 12 39705175 39705175 single base substitution A T intron_variant ESAD-UK 12 39709535 39709535 deletion of <=200bp A - downstream_gene_variant ESAD-UK 12 39709535 39709535 deletion of <=200bp A - intron_variant ESAD-UK 12 39709535 39709535 deletion of <=200bp A - upstream_gene_variant ESAD-UK 12 39709998 39709998 single base substitution A T downstream_gene_variant ESAD-UK 12 39709998 39709998 single base substitution A T intron_variant ESAD-UK 12 39709998 39709998 single base substitution A T upstream_gene_variant ESAD-UK 12 39713034 39713034 single base substitution C T downstream_gene_variant ESAD-UK 12 39713034 39713034 single base substitution C T intron_variant ESAD-UK 12 39715142 39715142 single base substitution T C intron_variant ESAD-UK 12 39715142 39715142 single base substitution T C splice_region_variant ESAD-UK 12 39716840 39716840 single base substitution G A intron_variant ESAD-UK 12 39716840 39716840 single base substitution G A upstream_gene_variant ESAD-UK 12 39719785 39719785 single base substitution T G downstream_gene_variant ESAD-UK 12 39719785 39719785 single base substitution T G intron_variant ESAD-UK 12 39719785 39719785 single base substitution T G upstream_gene_variant ESAD-UK 12 39721918 39721918 single base substitution A C downstream_gene_variant ESAD-UK 12 39721918 39721918 single base substitution A C intron_variant ESAD-UK 12 39722071 39722071 insertion of <=200bp - C downstream_gene_variant ESAD-UK 12 39722071 39722071 insertion of <=200bp - C intron_variant ESAD-UK 12 39723288 39723288 single base substitution G C downstream_gene_variant ESAD-UK 12 39723288 39723288 single base substitution G C intron_variant ESAD-UK 12 39724176 39724176 single base substitution G A downstream_gene_variant ESAD-UK 12 39724176 39724176 single base substitution G A intron_variant ESAD-UK 12 39727123 39727123 single base substitution A C intron_variant ESAD-UK 12 39727123 39727123 single base substitution A C upstream_gene_variant ESAD-UK 12 39727710 39727710 single base substitution A T intron_variant ESAD-UK 12 39727710 39727710 single base substitution A T upstream_gene_variant ESAD-UK 12 39731270 39731270 single base substitution G T exon_variant ESAD-UK 12 39731270 39731270 single base substitution G T intron_variant ESAD-UK 12 39731284 39731284 single base substitution G T exon_variant ESAD-UK 12 39731284 39731284 single base substitution G T intron_variant ESAD-UK 12 39734109 39734109 deletion of <=200bp T - frameshift_variant K70 ESAD-UK 12 39734109 39734109 deletion of <=200bp T - frameshift_variant K710 ESAD-UK 12 39734109 39734109 deletion of <=200bp T - frameshift_variant K723 ESAD-UK 12 39734109 39734109 deletion of <=200bp T - upstream_gene_variant ESAD-UK 12 39734842 39734842 single base substitution T G missense_variant K646T 1937A>C ESAD-UK 12 39734842 39734842 single base substitution T G missense_variant K659T 1976A>C ESAD-UK 12 39734842 39734842 single base substitution T G missense_variant K6T 17A>C ESAD-UK 12 39734842 39734842 single base substitution T G upstream_gene_variant ESAD-UK 12 39735299 39735312 deletion of <=200bp GCAAGTACCTTTTT - splice_donor_variant ESAD-UK 12 39735299 39735312 deletion of <=200bp GCAAGTACCTTTTT - upstream_gene_variant ESAD-UK 12 39736295 39736295 insertion of <=200bp - A intron_variant ESAD-UK 12 39736295 39736295 insertion of <=200bp - A upstream_gene_variant ESAD-UK 12 39737118 39737118 single base substitution C T intron_variant ESAD-UK 12 39737118 39737118 single base substitution C T upstream_gene_variant ESAD-UK 12 39737834 39737834 single base substitution A C intron_variant ESAD-UK 12 39737834 39737834 single base substitution A C upstream_gene_variant ESAD-UK 12 39738101 39738101 single base substitution G C intron_variant ESAD-UK 12 39738101 39738101 single base substitution G C upstream_gene_variant ESAD-UK 12 39740854 39740854 insertion of <=200bp - A intron_variant ESAD-UK 12 39741049 39741049 single base substitution G A intron_variant ESAD-UK 12 39744636 39744636 single base substitution G C intron_variant ESAD-UK 12 39744882 39744882 single base substitution G T intron_variant ESAD-UK 12 39745686 39745686 single base substitution A C downstream_gene_variant ESAD-UK 12 39745686 39745686 single base substitution A C synonymous_variant T522T 1566T>G ESAD-UK 12 39750186 39750186 single base substitution C T downstream_gene_variant ESAD-UK 12 39750186 39750186 single base substitution C T intron_variant ESAD-UK 12 39754012 39754012 deletion of <=200bp A - intron_variant ESAD-UK 12 39754012 39754012 deletion of <=200bp A - upstream_gene_variant ESAD-UK 12 39754739 39754739 single base substitution C A intron_variant ESAD-UK 12 39754739 39754739 single base substitution C A upstream_gene_variant ESAD-UK 12 39756098 39756098 single base substitution C G intron_variant ESAD-UK 12 39756280 39756280 single base substitution C T intron_variant ESAD-UK 12 39759800 39759800 single base substitution C A intron_variant ESAD-UK 12 39762586 39762586 single base substitution G T intron_variant ESAD-UK 12 39762586 39762586 single base substitution G T upstream_gene_variant ESAD-UK 12 39763264 39763264 deletion of <=200bp A - intron_variant ESAD-UK 12 39763264 39763264 deletion of <=200bp A - upstream_gene_variant ESAD-UK 12 39764114 39764114 single base substitution A G intron_variant ESAD-UK 12 39764114 39764114 single base substitution A G upstream_gene_variant ESAD-UK 12 39764233 39764233 single base substitution A G intron_variant ESAD-UK 12 39764233 39764233 single base substitution A G upstream_gene_variant ESAD-UK 12 39767479 39767479 single base substitution A C intron_variant ESAD-UK 12 39768333 39768333 single base substitution G A intron_variant ESAD-UK 12 39769052 39769052 single base substitution A C intron_variant ESAD-UK 12 39770527 39770527 single base substitution G A intron_variant ESAD-UK 12 39770636 39770636 single base substitution C T intron_variant ESAD-UK 12 39774778 39774778 single base substitution C T intron_variant ESAD-UK 12 39774933 39774933 single base substitution C G intron_variant ESAD-UK 12 39777380 39777380 single base substitution A G intron_variant ESAD-UK 12 39777686 39777686 single base substitution A T intron_variant ESAD-UK 12 39778145 39778145 single base substitution T A intron_variant ESAD-UK 12 39782410 39782410 single base substitution C T intron_variant ESAD-UK 12 39782644 39782644 single base substitution A T intron_variant ESAD-UK 12 39784488 39784488 single base substitution A C intron_variant ESAD-UK 12 39786634 39786634 single base substitution A G intron_variant ESAD-UK 12 39788070 39788070 single base substitution G A intron_variant ESAD-UK 12 39788946 39788946 single base substitution T C intron_variant ESAD-UK 12 39789968 39789968 single base substitution C T intron_variant ESAD-UK 12 39790220 39790220 single base substitution A C intron_variant ESAD-UK 12 39791049 39791049 single base substitution A G intron_variant ESAD-UK 12 39792394 39792394 single base substitution C G intron_variant ESAD-UK 12 39793128 39793128 single base substitution G T intron_variant ESAD-UK 12 39793136 39793136 single base substitution C A intron_variant ESAD-UK 12 39796426 39796426 single base substitution C T intron_variant ESAD-UK 12 39799601 39799601 single base substitution G A intron_variant ESAD-UK 12 39801813 39801813 deletion of <=200bp A - intron_variant ESAD-UK 12 39804637 39804637 single base substitution A T intron_variant ESAD-UK 12 39805262 39805262 single base substitution T C intron_variant ESAD-UK 12 39806032 39806032 single base substitution G C intron_variant ESAD-UK 12 39806674 39806674 single base substitution C T intron_variant ESAD-UK 12 39807552 39807552 single base substitution G T intron_variant ESAD-UK 12 39808857 39808857 single base substitution C G intron_variant ESAD-UK 12 39810126 39810126 single base substitution G T intron_variant ESAD-UK 12 39810489 39810489 single base substitution G A intron_variant ESAD-UK 12 39810605 39810616 deletion of <=200bp ATATATATGTGT - intron_variant ESAD-UK 12 39810720 39810720 single base substitution C T intron_variant ESAD-UK 12 39812704 39812704 single base substitution T C intron_variant ESAD-UK 12 39812827 39812827 single base substitution G T intron_variant ESAD-UK 12 39815358 39815358 single base substitution G T intron_variant ESAD-UK 12 39817623 39817623 deletion of <=200bp A - intron_variant ESAD-UK 12 39820816 39820816 single base substitution G A intron_variant ESAD-UK 12 39824707 39824707 single base substitution G A intron_variant ESAD-UK 12 39825536 39825536 single base substitution G A intron_variant ESAD-UK 12 39827171 39827171 single base substitution T A intron_variant ESAD-UK 12 39829679 39829679 single base substitution T C intron_variant ESAD-UK 12 39831401 39831402 deletion of <=200bp AG - intron_variant ESAD-UK 12 39832756 39832756 single base substitution G T intron_variant ESAD-UK 12 39832947 39832947 single base substitution C T intron_variant ESAD-UK 12 39833634 39833634 single base substitution T G intron_variant ESAD-UK 12 39834233 39834233 single base substitution C A intron_variant ESAD-UK 12 39835508 39835508 single base substitution A C intron_variant ESAD-UK 12 39837274 39837274 single base substitution G C upstream_gene_variant ESAD-UK 12 39839222 39839222 single base substitution A G upstream_gene_variant ESAD-UK 12 39841037 39841037 single base substitution T A upstream_gene_variant ESCA-CN 12 39701512 39701512 single base substitution G C downstream_gene_variant ESCA-CN 12 39701512 39701512 single base substitution G C exon_variant ESCA-CN 12 39701512 39701512 single base substitution G C missense_variant L1380V 4138C>G ESCA-CN 12 39701512 39701512 single base substitution G C missense_variant L1396V 4186C>G ESCA-CN 12 39701512 39701512 single base substitution G C missense_variant L1420V 4258C>G ESCA-CN 12 39701512 39701512 single base substitution G C missense_variant L1433V 4297C>G ESCA-CN 12 39701512 39701512 single base substitution G C missense_variant L1434V 4300C>G ESCA-CN 12 39701512 39701512 single base substitution G C missense_variant L414V 1240C>G ESCA-CN 12 39701512 39701512 single base substitution G C missense_variant L733V 2197C>G GBM-US 12 39716483 39716483 single base substitution T C exon_variant GBM-US 12 39716483 39716483 single base substitution T C intron_variant GBM-US 12 39716483 39716483 single base substitution T C missense_variant K1184E 3550A>G GBM-US 12 39716483 39716483 single base substitution T C missense_variant K1200E 3598A>G GBM-US 12 39716483 39716483 single base substitution T C missense_variant K1207E 3619A>G GBM-US 12 39716483 39716483 single base substitution T C missense_variant K1220E 3658A>G GBM-US 12 39716483 39716483 single base substitution T C missense_variant K261E 781A>G GBM-US 12 39716483 39716483 single base substitution T C missense_variant K567E 1699A>G GBM-US 12 39716483 39716483 single base substitution T C upstream_gene_variant GBM-US 12 39726188 39726188 single base substitution C A downstream_gene_variant GBM-US 12 39726188 39726188 single base substitution C A exon_variant GBM-US 12 39726188 39726188 single base substitution C A missense_variant R307I 920G>T GBM-US 12 39726188 39726188 single base substitution C A missense_variant R8I 23G>T GBM-US 12 39726188 39726188 single base substitution C A missense_variant R924I 2771G>T GBM-US 12 39726188 39726188 single base substitution C A missense_variant R947I 2840G>T GBM-US 12 39726188 39726188 single base substitution C A missense_variant R960I 2879G>T GBM-US 12 39726188 39726188 single base substitution C A upstream_gene_variant KIRC-US 12 39695437 39695437 single base substitution C A exon_variant KIRC-US 12 39695437 39695437 single base substitution C A synonymous_variant V1539V 4617G>T KIRC-US 12 39695437 39695437 single base substitution C A synonymous_variant V1555V 4665G>T KIRC-US 12 39695437 39695437 single base substitution C A synonymous_variant V1579V 4737G>T KIRC-US 12 39695437 39695437 single base substitution C A synonymous_variant V1592V 4776G>T KIRC-US 12 39695437 39695437 single base substitution C A synonymous_variant V1593V 4779G>T KIRC-US 12 39695437 39695437 single base substitution C A synonymous_variant V573V 1719G>T KIRC-US 12 39695437 39695437 single base substitution C A synonymous_variant V892V 2676G>T KIRC-US 12 39726836 39726836 single base substitution G C downstream_gene_variant KIRC-US 12 39726836 39726836 single base substitution G C exon_variant KIRC-US 12 39726836 39726836 single base substitution G C stop_gained S201* 602C>G KIRC-US 12 39726836 39726836 single base substitution G C stop_gained S818* 2453C>G KIRC-US 12 39726836 39726836 single base substitution G C stop_gained S841* 2522C>G KIRC-US 12 39726836 39726836 single base substitution G C stop_gained S854* 2561C>G KIRC-US 12 39726836 39726836 single base substitution G C upstream_gene_variant KIRC-US 12 39730918 39730918 single base substitution T G exon_variant KIRC-US 12 39730918 39730918 single base substitution T G missense_variant K147Q 439A>C KIRC-US 12 39730918 39730918 single base substitution T G missense_variant K787Q 2359A>C KIRC-US 12 39730918 39730918 single base substitution T G missense_variant K800Q 2398A>C KIRC-US 12 39730918 39730918 single base substitution T G upstream_gene_variant KIRP-US 12 39709737 39709737 single base substitution T C downstream_gene_variant KIRP-US 12 39709737 39709737 single base substitution T C intron_variant KIRP-US 12 39709737 39709737 single base substitution T C missense_variant H1302R 3905A>G KIRP-US 12 39709737 39709737 single base substitution T C missense_variant H1315R 3944A>G KIRP-US 12 39709737 39709737 single base substitution T C missense_variant H619R 1856A>G KIRP-US 12 39709737 39709737 single base substitution T C upstream_gene_variant KIRP-US 12 39726729 39726729 single base substitution G C downstream_gene_variant KIRP-US 12 39726729 39726729 single base substitution G C exon_variant KIRP-US 12 39726729 39726729 single base substitution G C missense_variant Q237E 709C>G KIRP-US 12 39726729 39726729 single base substitution G C missense_variant Q854E 2560C>G KIRP-US 12 39726729 39726729 single base substitution G C missense_variant Q877E 2629C>G KIRP-US 12 39726729 39726729 single base substitution G C missense_variant Q890E 2668C>G KIRP-US 12 39726729 39726729 single base substitution G C upstream_gene_variant LAML-CN 12 39725588 39725588 single base substitution T C downstream_gene_variant LAML-CN 12 39725588 39725588 single base substitution T C exon_variant LAML-CN 12 39725588 39725588 single base substitution T C synonymous_variant E1006E 3018A>G LAML-CN 12 39725588 39725588 single base substitution T C synonymous_variant E1019E 3057A>G LAML-CN 12 39725588 39725588 single base substitution T C synonymous_variant E366E 1098A>G LAML-CN 12 39725588 39725588 single base substitution T C synonymous_variant E40E 120A>G LAML-CN 12 39725588 39725588 single base substitution T C synonymous_variant E67E 201A>G LAML-CN 12 39725588 39725588 single base substitution T C synonymous_variant E983E 2949A>G LAML-KR 12 39716805 39716805 single base substitution G A intron_variant LAML-KR 12 39716805 39716805 single base substitution G A upstream_gene_variant LAML-KR 12 39761707 39761707 single base substitution C T missense_variant R193H 578G>A LAML-KR 12 39761707 39761707 single base substitution C T missense_variant R8H 23G>A LAML-KR 12 39792124 39792124 single base substitution G A intron_variant LGG-US 12 39761740 39761740 single base substitution G C missense_variant T182S 545C>G LGG-US 12 39761740 39761740 single base substitution G C upstream_gene_variant LGG-US 12 39763607 39763607 single base substitution A G missense_variant I125T 374T>C LGG-US 12 39763607 39763607 single base substitution A G upstream_gene_variant LGG-US 12 39763628 39763628 single base substitution A C missense_variant V118G 353T>G LGG-US 12 39763628 39763628 single base substitution A C upstream_gene_variant LICA-CN 12 39716647 39716647 single base substitution T A exon_variant LICA-CN 12 39716647 39716647 single base substitution T A intron_variant LICA-CN 12 39716647 39716647 single base substitution T A missense_variant Y1129F 3386A>T LICA-CN 12 39716647 39716647 single base substitution T A missense_variant Y1145F 3434A>T LICA-CN 12 39716647 39716647 single base substitution T A missense_variant Y1152F 3455A>T LICA-CN 12 39716647 39716647 single base substitution T A missense_variant Y1165F 3494A>T LICA-CN 12 39716647 39716647 single base substitution T A missense_variant Y206F 617A>T LICA-CN 12 39716647 39716647 single base substitution T A missense_variant Y512F 1535A>T LICA-CN 12 39716647 39716647 single base substitution T A upstream_gene_variant LICA-CN 12 39735367 39735367 single base substitution C T missense_variant E608K 1822G>A LICA-CN 12 39735367 39735367 single base substitution C T missense_variant E621K 1861G>A LICA-CN 12 39735367 39735367 single base substitution C T upstream_gene_variant LICA-FR 12 39682183 39682183 single base substitution G C downstream_gene_variant LICA-FR 12 39696024 39696024 single base substitution T C intron_variant LICA-FR 12 39710006 39710006 single base substitution T A downstream_gene_variant LICA-FR 12 39710006 39710006 single base substitution T A intron_variant LICA-FR 12 39710006 39710006 single base substitution T A upstream_gene_variant LICA-FR 12 39725817 39725817 single base substitution T C downstream_gene_variant LICA-FR 12 39725817 39725817 single base substitution T C exon_variant LICA-FR 12 39725817 39725817 single base substitution T C intron_variant LICA-FR 12 39735368 39735368 single base substitution C A missense_variant E607D 1821G>T LICA-FR 12 39735368 39735368 single base substitution C A missense_variant E620D 1860G>T LICA-FR 12 39735368 39735368 single base substitution C A upstream_gene_variant LICA-FR 12 39735427 39735427 deletion of <=200bp A - splice_region_variant LICA-FR 12 39735427 39735427 deletion of <=200bp A - upstream_gene_variant LICA-FR 12 39742949 39742949 single base substitution T C intron_variant LICA-FR 12 39752001 39752001 single base substitution C T missense_variant M221I 663G>A LICA-FR 12 39752001 39752001 single base substitution C T missense_variant M398I 1194G>A LICA-FR 12 39752001 39752001 single base substitution C T upstream_gene_variant LICA-FR 12 39773816 39773816 single base substitution C A intron_variant LICA-FR 12 39807825 39807825 single base substitution A C intron_variant LICA-FR 12 39809367 39809367 single base substitution T A intron_variant LICA-FR 12 39810405 39810434 deletion of <=200bp ATATATATATATATGTACATATATATGTGT - intron_variant LIHC-US 12 39688230 39688230 single base substitution T C exon_variant LIHC-US 12 39688230 39688230 single base substitution T C missense_variant N1621S 4862A>G LIHC-US 12 39688230 39688230 single base substitution T C missense_variant N1637S 4910A>G LIHC-US 12 39688230 39688230 single base substitution T C missense_variant N1661S 4982A>G LIHC-US 12 39688230 39688230 single base substitution T C missense_variant N1674S 5021A>G LIHC-US 12 39688230 39688230 single base substitution T C missense_variant N1675S 5024A>G LIHC-US 12 39688230 39688230 single base substitution T C missense_variant N655S 1964A>G LIHC-US 12 39688230 39688230 single base substitution T C missense_variant N974S 2921A>G LIHC-US 12 39726715 39726715 single base substitution C G downstream_gene_variant LIHC-US 12 39726715 39726715 single base substitution C G exon_variant LIHC-US 12 39726715 39726715 single base substitution C G synonymous_variant T241T 723G>C LIHC-US 12 39726715 39726715 single base substitution C G synonymous_variant T858T 2574G>C LIHC-US 12 39726715 39726715 single base substitution C G synonymous_variant T881T 2643G>C LIHC-US 12 39726715 39726715 single base substitution C G synonymous_variant T894T 2682G>C LIHC-US 12 39726715 39726715 single base substitution C G upstream_gene_variant LIHC-US 12 39727052 39727052 single base substitution T A exon_variant LIHC-US 12 39727052 39727052 single base substitution T A intron_variant LIHC-US 12 39727052 39727052 single base substitution T A stop_gained R164* 490A>T LIHC-US 12 39727052 39727052 single base substitution T A stop_gained R804* 2410A>T LIHC-US 12 39727052 39727052 single base substitution T A stop_gained R817* 2449A>T LIHC-US 12 39727052 39727052 single base substitution T A upstream_gene_variant LINC-JP 12 39691970 39691970 single base substitution C A intron_variant LINC-JP 12 39697299 39697299 single base substitution T C intron_variant LINC-JP 12 39699170 39699170 single base substitution G A downstream_gene_variant LINC-JP 12 39699170 39699170 single base substitution G A intron_variant LINC-JP 12 39704437 39704437 single base substitution T C intron_variant LINC-JP 12 39705176 39705176 single base substitution A T intron_variant LINC-JP 12 39708898 39708898 single base substitution A G downstream_gene_variant LINC-JP 12 39708898 39708898 single base substitution A G intron_variant LINC-JP 12 39708898 39708898 single base substitution A G upstream_gene_variant LINC-JP 12 39709662 39709662 single base substitution T C downstream_gene_variant LINC-JP 12 39709662 39709662 single base substitution T C intron_variant LINC-JP 12 39709662 39709662 single base substitution T C missense_variant N1319D 3955A>G LINC-JP 12 39709662 39709662 single base substitution T C upstream_gene_variant LINC-JP 12 39709874 39709874 single base substitution T C downstream_gene_variant LINC-JP 12 39709874 39709874 single base substitution T C intron_variant LINC-JP 12 39709874 39709874 single base substitution T C upstream_gene_variant LINC-JP 12 39712032 39712032 single base substitution T C downstream_gene_variant LINC-JP 12 39712032 39712032 single base substitution T C intron_variant LINC-JP 12 39712085 39712085 single base substitution A T downstream_gene_variant LINC-JP 12 39712085 39712085 single base substitution A T intron_variant LINC-JP 12 39716862 39716862 single base substitution T C intron_variant LINC-JP 12 39716862 39716862 single base substitution T C upstream_gene_variant LINC-JP 12 39720834 39720834 single base substitution A C downstream_gene_variant LINC-JP 12 39720834 39720834 single base substitution A C intron_variant LINC-JP 12 39726654 39726654 single base substitution G A downstream_gene_variant LINC-JP 12 39726654 39726654 single base substitution G A intron_variant LINC-JP 12 39726654 39726654 single base substitution G A upstream_gene_variant LINC-JP 12 39735613 39735613 single base substitution T C intron_variant LINC-JP 12 39735613 39735613 single base substitution T C upstream_gene_variant LINC-JP 12 39745781 39745781 single base substitution C A downstream_gene_variant LINC-JP 12 39745781 39745781 single base substitution C A missense_variant A491S 1471G>T LINC-JP 12 39745932 39745932 single base substitution A G downstream_gene_variant LINC-JP 12 39745932 39745932 single base substitution A G intron_variant LINC-JP 12 39749177 39749177 single base substitution G A downstream_gene_variant LINC-JP 12 39749177 39749177 single base substitution G A intron_variant LINC-JP 12 39757343 39757343 single base substitution G C intron_variant LINC-JP 12 39759917 39759917 single base substitution A G intron_variant LINC-JP 12 39762356 39762356 single base substitution C A intron_variant LINC-JP 12 39762356 39762356 single base substitution C A upstream_gene_variant LINC-JP 12 39762540 39762540 insertion of <=200bp - A intron_variant LINC-JP 12 39762540 39762540 insertion of <=200bp - A upstream_gene_variant LINC-JP 12 39764077 39764077 single base substitution T A intron_variant LINC-JP 12 39764077 39764077 single base substitution T A upstream_gene_variant LINC-JP 12 39770304 39770304 single base substitution A T intron_variant LINC-JP 12 39771709 39771709 single base substitution T C intron_variant LINC-JP 12 39773512 39773512 single base substitution T C intron_variant LINC-JP 12 39774270 39774270 single base substitution A G intron_variant LINC-JP 12 39776156 39776156 single base substitution T C intron_variant LINC-JP 12 39789875 39789875 single base substitution G C intron_variant LINC-JP 12 39832844 39832844 single base substitution T G intron_variant LINC-JP 12 39837178 39837178 single base substitution C A 5_prime_UTR_variant LINC-JP 12 39837178 39837178 single base substitution C A upstream_gene_variant LINC-JP 12 39842072 39842072 single base substitution T A upstream_gene_variant LIRI-JP 12 39684147 39684147 single base substitution T C downstream_gene_variant LIRI-JP 12 39684746 39684746 single base substitution T C downstream_gene_variant LIRI-JP 12 39687243 39687243 single base substitution T A 3_prime_UTR_variant LIRI-JP 12 39687243 39687243 single base substitution T A downstream_gene_variant LIRI-JP 12 39687243 39687243 single base substitution T A exon_variant LIRI-JP 12 39690173 39690173 single base substitution G A intron_variant LIRI-JP 12 39694079 39694079 single base substitution G T intron_variant LIRI-JP 12 39694442 39694442 single base substitution C T intron_variant LIRI-JP 12 39695228 39695228 single base substitution T C intron_variant LIRI-JP 12 39698776 39698776 single base substitution T C downstream_gene_variant LIRI-JP 12 39698776 39698776 single base substitution T C intron_variant LIRI-JP 12 39701698 39701698 single base substitution T C downstream_gene_variant LIRI-JP 12 39701698 39701698 single base substitution T C intron_variant LIRI-JP 12 39701939 39701939 single base substitution G A downstream_gene_variant LIRI-JP 12 39701939 39701939 single base substitution G A intron_variant LIRI-JP 12 39703477 39703477 single base substitution A C downstream_gene_variant LIRI-JP 12 39703477 39703477 single base substitution A C exon_variant LIRI-JP 12 39703477 39703477 single base substitution A C missense_variant C1343W 4029T>G LIRI-JP 12 39703477 39703477 single base substitution A C missense_variant C1359W 4077T>G LIRI-JP 12 39703477 39703477 single base substitution A C missense_variant C1383W 4149T>G LIRI-JP 12 39703477 39703477 single base substitution A C missense_variant C1396W 4188T>G LIRI-JP 12 39703477 39703477 single base substitution A C missense_variant C1397W 4191T>G LIRI-JP 12 39703477 39703477 single base substitution A C missense_variant C377W 1131T>G LIRI-JP 12 39703477 39703477 single base substitution A C missense_variant C696W 2088T>G LIRI-JP 12 39704536 39704536 single base substitution T A intron_variant LIRI-JP 12 39709115 39709115 single base substitution T C downstream_gene_variant LIRI-JP 12 39709115 39709115 single base substitution T C intron_variant LIRI-JP 12 39709115 39709115 single base substitution T C upstream_gene_variant LIRI-JP 12 39710897 39710897 single base substitution T G downstream_gene_variant LIRI-JP 12 39710897 39710897 single base substitution T G intron_variant LIRI-JP 12 39710897 39710897 single base substitution T G upstream_gene_variant LIRI-JP 12 39715871 39715871 single base substitution T C 3_prime_UTR_variant LIRI-JP 12 39715871 39715871 single base substitution T C intron_variant LIRI-JP 12 39715871 39715871 single base substitution T C upstream_gene_variant LIRI-JP 12 39717322 39717322 single base substitution T C intron_variant LIRI-JP 12 39717322 39717322 single base substitution T C upstream_gene_variant LIRI-JP 12 39719458 39719458 single base substitution T A downstream_gene_variant LIRI-JP 12 39719458 39719458 single base substitution T A intron_variant LIRI-JP 12 39719458 39719458 single base substitution T A upstream_gene_variant LIRI-JP 12 39724820 39724820 single base substitution T G downstream_gene_variant LIRI-JP 12 39724820 39724820 single base substitution T G intron_variant LIRI-JP 12 39725111 39725111 single base substitution G C downstream_gene_variant LIRI-JP 12 39725111 39725111 single base substitution G C intron_variant LIRI-JP 12 39727875 39727875 single base substitution T A intron_variant LIRI-JP 12 39727875 39727875 single base substitution T A upstream_gene_variant LIRI-JP 12 39728458 39728458 single base substitution G A intron_variant LIRI-JP 12 39728458 39728458 single base substitution G A upstream_gene_variant LIRI-JP 12 39728950 39728950 single base substitution G T intron_variant LIRI-JP 12 39728950 39728950 single base substitution G T upstream_gene_variant LIRI-JP 12 39729427 39729427 single base substitution T C intron_variant LIRI-JP 12 39729427 39729427 single base substitution T C upstream_gene_variant LIRI-JP 12 39731300 39731300 single base substitution C T exon_variant LIRI-JP 12 39731300 39731300 single base substitution C T intron_variant LIRI-JP 12 39734029 39734029 single base substitution A C exon_variant LIRI-JP 12 39734029 39734029 single base substitution A C missense_variant S737A 2209T>G LIRI-JP 12 39734029 39734029 single base substitution A C missense_variant S750A 2248T>G LIRI-JP 12 39734029 39734029 single base substitution A C missense_variant S97A 289T>G LIRI-JP 12 39734029 39734029 single base substitution A C upstream_gene_variant LIRI-JP 12 39735226 39735226 single base substitution T C intron_variant LIRI-JP 12 39735226 39735226 single base substitution T C upstream_gene_variant LIRI-JP 12 39736077 39736077 single base substitution T A intron_variant LIRI-JP 12 39736077 39736077 single base substitution T A upstream_gene_variant LIRI-JP 12 39736965 39736965 single base substitution T C intron_variant LIRI-JP 12 39736965 39736965 single base substitution T C upstream_gene_variant LIRI-JP 12 39737218 39737218 single base substitution T A intron_variant LIRI-JP 12 39737218 39737218 single base substitution T A upstream_gene_variant LIRI-JP 12 39737826 39737826 insertion of <=200bp - A intron_variant LIRI-JP 12 39737826 39737826 insertion of <=200bp - A upstream_gene_variant LIRI-JP 12 39738672 39738672 single base substitution G A intron_variant LIRI-JP 12 39738672 39738672 single base substitution G A upstream_gene_variant LIRI-JP 12 39740779 39740779 single base substitution T C intron_variant LIRI-JP 12 39741242 39741242 single base substitution T C intron_variant LIRI-JP 12 39742499 39742499 single base substitution T C intron_variant LIRI-JP 12 39743803 39743803 single base substitution T C intron_variant LIRI-JP 12 39743896 39743896 single base substitution C A intron_variant LIRI-JP 12 39744762 39744762 single base substitution T C intron_variant LIRI-JP 12 39745350 39745350 single base substitution T C intron_variant LIRI-JP 12 39745808 39745808 single base substitution A T downstream_gene_variant LIRI-JP 12 39745808 39745808 single base substitution A T intron_variant LIRI-JP 12 39749887 39749887 single base substitution A G downstream_gene_variant LIRI-JP 12 39749887 39749887 single base substitution A G intron_variant LIRI-JP 12 39750877 39750877 single base substitution G C downstream_gene_variant LIRI-JP 12 39750877 39750877 single base substitution G C intron_variant LIRI-JP 12 39752171 39752171 single base substitution T C missense_variant T165A 493A>G LIRI-JP 12 39752171 39752171 single base substitution T C missense_variant T342A 1024A>G LIRI-JP 12 39752171 39752171 single base substitution T C upstream_gene_variant LIRI-JP 12 39752185 39752185 single base substitution A G intron_variant LIRI-JP 12 39752185 39752185 single base substitution A G upstream_gene_variant LIRI-JP 12 39752456 39752456 single base substitution T C intron_variant LIRI-JP 12 39752456 39752456 single base substitution T C upstream_gene_variant LIRI-JP 12 39755196 39755196 single base substitution G A intron_variant LIRI-JP 12 39755196 39755196 single base substitution G A upstream_gene_variant LIRI-JP 12 39756543 39756543 single base substitution T C intron_variant LIRI-JP 12 39757380 39757380 single base substitution T C intron_variant LIRI-JP 12 39759725 39759725 single base substitution A C intron_variant LIRI-JP 12 39760155 39760155 single base substitution T C synonymous_variant G123G 369A>G LIRI-JP 12 39760155 39760155 single base substitution T C synonymous_variant G300G 900A>G LIRI-JP 12 39760582 39760582 single base substitution A G intron_variant LIRI-JP 12 39761606 39761606 single base substitution T C intron_variant LIRI-JP 12 39762569 39762569 single base substitution A G intron_variant LIRI-JP 12 39762569 39762569 single base substitution A G upstream_gene_variant LIRI-JP 12 39767245 39767245 single base substitution A G intron_variant LIRI-JP 12 39767288 39767288 single base substitution T C intron_variant LIRI-JP 12 39768246 39768246 single base substitution G A intron_variant LIRI-JP 12 39771207 39771207 single base substitution G A intron_variant LIRI-JP 12 39774970 39774970 single base substitution C T intron_variant LIRI-JP 12 39777325 39777325 single base substitution G T intron_variant LIRI-JP 12 39777661 39777661 single base substitution T A intron_variant LIRI-JP 12 39778043 39778043 single base substitution T C intron_variant LIRI-JP 12 39779471 39779471 single base substitution C A intron_variant LIRI-JP 12 39780121 39780121 single base substitution T A intron_variant LIRI-JP 12 39782179 39782179 single base substitution G A intron_variant LIRI-JP 12 39783760 39783760 single base substitution T A intron_variant LIRI-JP 12 39783761 39783761 single base substitution C A intron_variant LIRI-JP 12 39784709 39784709 single base substitution G A intron_variant LIRI-JP 12 39784719 39784719 single base substitution A C intron_variant LIRI-JP 12 39787287 39787287 single base substitution G A intron_variant LIRI-JP 12 39787865 39787865 single base substitution T C intron_variant LIRI-JP 12 39788372 39788372 single base substitution T A intron_variant LIRI-JP 12 39793716 39793716 single base substitution A G intron_variant LIRI-JP 12 39794199 39794199 single base substitution C T intron_variant LIRI-JP 12 39795633 39795633 single base substitution T C intron_variant LIRI-JP 12 39797977 39797977 single base substitution G A intron_variant LIRI-JP 12 39799190 39799190 single base substitution T C intron_variant LIRI-JP 12 39799494 39799494 single base substitution T C intron_variant LIRI-JP 12 39799674 39799674 single base substitution A G intron_variant LIRI-JP 12 39802764 39802764 single base substitution G A intron_variant LIRI-JP 12 39804633 39804633 single base substitution G C intron_variant LIRI-JP 12 39805072 39805072 single base substitution T C intron_variant LIRI-JP 12 39805553 39805553 single base substitution G A intron_variant LIRI-JP 12 39805666 39805666 single base substitution T C intron_variant LIRI-JP 12 39807134 39807134 insertion of <=200bp - A intron_variant LIRI-JP 12 39807228 39807228 single base substitution T C intron_variant LIRI-JP 12 39808378 39808378 single base substitution T C intron_variant LIRI-JP 12 39810986 39810986 single base substitution A G intron_variant LIRI-JP 12 39811187 39811187 single base substitution T C intron_variant LIRI-JP 12 39814933 39814933 single base substitution A T intron_variant LIRI-JP 12 39815279 39815279 single base substitution G T intron_variant LIRI-JP 12 39819194 39819194 single base substitution T C intron_variant LIRI-JP 12 39819925 39819925 single base substitution T C intron_variant LIRI-JP 12 39820247 39820247 single base substitution A G intron_variant LIRI-JP 12 39822270 39822270 single base substitution T C intron_variant LIRI-JP 12 39823621 39823621 single base substitution A T intron_variant LIRI-JP 12 39825695 39825695 single base substitution T C intron_variant LIRI-JP 12 39826401 39826401 single base substitution T C intron_variant LIRI-JP 12 39828373 39828373 single base substitution T C intron_variant LIRI-JP 12 39828437 39828437 insertion of <=200bp - A intron_variant LIRI-JP 12 39831023 39831023 single base substitution T C intron_variant LIRI-JP 12 39831401 39831402 deletion of <=200bp AG - intron_variant LIRI-JP 12 39834270 39834270 single base substitution A C intron_variant LIRI-JP 12 39835167 39835167 single base substitution T C intron_variant LUSC-KR 12 39682562 39682562 single base substitution G A downstream_gene_variant LUSC-KR 12 39686630 39686630 single base substitution T A downstream_gene_variant LUSC-KR 12 39689805 39689805 single base substitution T A intron_variant LUSC-KR 12 39694895 39694895 single base substitution T C intron_variant LUSC-KR 12 39695220 39695220 single base substitution C A intron_variant LUSC-KR 12 39703387 39703387 single base substitution C T downstream_gene_variant LUSC-KR 12 39703387 39703387 single base substitution C T splice_donor_variant LUSC-KR 12 39704074 39704074 single base substitution C A intron_variant LUSC-KR 12 39706511 39706511 single base substitution T A exon_variant LUSC-KR 12 39706511 39706511 single base substitution T A intron_variant LUSC-KR 12 39708818 39708818 single base substitution C A downstream_gene_variant LUSC-KR 12 39708818 39708818 single base substitution C A intron_variant LUSC-KR 12 39708818 39708818 single base substitution C A upstream_gene_variant LUSC-KR 12 39714568 39714568 single base substitution C A intron_variant LUSC-KR 12 39722587 39722587 single base substitution C T downstream_gene_variant LUSC-KR 12 39722587 39722587 single base substitution C T intron_variant LUSC-KR 12 39724065 39724065 single base substitution C A downstream_gene_variant LUSC-KR 12 39724065 39724065 single base substitution C A intron_variant LUSC-KR 12 39724065 39724065 single base substitution C A splice_acceptor_variant LUSC-KR 12 39724171 39724171 single base substitution G A downstream_gene_variant LUSC-KR 12 39724171 39724171 single base substitution G A intron_variant LUSC-KR 12 39727227 39727227 single base substitution C T intron_variant LUSC-KR 12 39727227 39727227 single base substitution C T upstream_gene_variant LUSC-KR 12 39727838 39727838 single base substitution T A intron_variant LUSC-KR 12 39727838 39727838 single base substitution T A upstream_gene_variant LUSC-KR 12 39728027 39728027 single base substitution G A intron_variant LUSC-KR 12 39728027 39728027 single base substitution G A upstream_gene_variant LUSC-KR 12 39731539 39731539 single base substitution C G intron_variant LUSC-KR 12 39731539 39731539 single base substitution C G upstream_gene_variant LUSC-KR 12 39739175 39739175 single base substitution T C intron_variant LUSC-KR 12 39739175 39739175 single base substitution T C upstream_gene_variant LUSC-KR 12 39743051 39743051 single base substitution T C intron_variant LUSC-KR 12 39746227 39746227 single base substitution A T downstream_gene_variant LUSC-KR 12 39746227 39746227 single base substitution A T intron_variant LUSC-KR 12 39746710 39746710 single base substitution C A downstream_gene_variant LUSC-KR 12 39746710 39746710 single base substitution C A intron_variant LUSC-KR 12 39751171 39751171 single base substitution T C synonymous_variant L251L 753A>G LUSC-KR 12 39751171 39751171 single base substitution T C synonymous_variant L428L 1284A>G LUSC-KR 12 39751171 39751171 single base substitution T C upstream_gene_variant LUSC-KR 12 39756105 39756105 single base substitution A G intron_variant LUSC-KR 12 39756429 39756429 single base substitution C A intron_variant LUSC-KR 12 39757981 39757981 single base substitution C T intron_variant LUSC-KR 12 39765858 39765858 single base substitution T C intron_variant LUSC-KR 12 39765858 39765858 single base substitution T C upstream_gene_variant LUSC-KR 12 39767016 39767016 single base substitution G A intron_variant LUSC-KR 12 39774398 39774398 single base substitution C A intron_variant LUSC-KR 12 39774416 39774416 single base substitution A C intron_variant LUSC-KR 12 39777528 39777528 single base substitution G C intron_variant LUSC-KR 12 39777772 39777772 single base substitution T C intron_variant LUSC-KR 12 39779802 39779802 single base substitution T A intron_variant LUSC-KR 12 39784904 39784904 single base substitution A C intron_variant LUSC-KR 12 39792275 39792275 single base substitution C T intron_variant LUSC-KR 12 39798062 39798062 single base substitution A T intron_variant LUSC-KR 12 39807122 39807122 single base substitution C G intron_variant LUSC-KR 12 39809747 39809747 single base substitution T C intron_variant LUSC-KR 12 39810226 39810226 single base substitution C A intron_variant LUSC-KR 12 39810322 39810322 single base substitution C A intron_variant LUSC-KR 12 39810688 39810688 single base substitution T A intron_variant LUSC-KR 12 39812594 39812594 single base substitution G A intron_variant LUSC-KR 12 39813959 39813959 single base substitution T A intron_variant LUSC-KR 12 39818609 39818609 single base substitution T C intron_variant LUSC-KR 12 39820100 39820100 single base substitution C A intron_variant LUSC-KR 12 39821363 39821363 single base substitution T A intron_variant LUSC-KR 12 39823688 39823688 single base substitution G C intron_variant LUSC-KR 12 39824293 39824293 single base substitution G C intron_variant LUSC-KR 12 39824336 39824336 single base substitution C T intron_variant LUSC-KR 12 39824382 39824382 single base substitution G A intron_variant LUSC-KR 12 39828304 39828304 single base substitution C A intron_variant LUSC-KR 12 39838033 39838033 single base substitution C T upstream_gene_variant LUSC-KR 12 39838375 39838375 single base substitution C A upstream_gene_variant LUSC-KR 12 39838400 39838400 single base substitution C T upstream_gene_variant LUSC-KR 12 39838831 39838831 single base substitution G T upstream_gene_variant LUSC-KR 12 39839730 39839730 single base substitution C G upstream_gene_variant LUSC-KR 12 39840958 39840958 single base substitution A T upstream_gene_variant LUSC-KR 12 39841766 39841766 single base substitution A T upstream_gene_variant LUSC-KR 12 39841951 39841951 single base substitution G T upstream_gene_variant LUSC-US 12 39695313 39695313 single base substitution C G exon_variant LUSC-US 12 39695313 39695313 single base substitution C G missense_variant V1581L 4741G>C LUSC-US 12 39695313 39695313 single base substitution C G missense_variant V1597L 4789G>C LUSC-US 12 39695313 39695313 single base substitution C G missense_variant V1621L 4861G>C LUSC-US 12 39695313 39695313 single base substitution C G missense_variant V1634L 4900G>C LUSC-US 12 39695313 39695313 single base substitution C G missense_variant V1635L 4903G>C LUSC-US 12 39695313 39695313 single base substitution C G missense_variant V615L 1843G>C LUSC-US 12 39695313 39695313 single base substitution C G missense_variant V934L 2800G>C LUSC-US 12 39716583 39716583 single base substitution G T exon_variant LUSC-US 12 39716583 39716583 single base substitution G T intron_variant LUSC-US 12 39716583 39716583 single base substitution G T synonymous_variant L1150L 3450C>A LUSC-US 12 39716583 39716583 single base substitution G T synonymous_variant L1166L 3498C>A LUSC-US 12 39716583 39716583 single base substitution G T synonymous_variant L1173L 3519C>A LUSC-US 12 39716583 39716583 single base substitution G T synonymous_variant L1186L 3558C>A LUSC-US 12 39716583 39716583 single base substitution G T synonymous_variant L227L 681C>A LUSC-US 12 39716583 39716583 single base substitution G T synonymous_variant L533L 1599C>A LUSC-US 12 39716583 39716583 single base substitution G T upstream_gene_variant LUSC-US 12 39726780 39726780 single base substitution C A downstream_gene_variant LUSC-US 12 39726780 39726780 single base substitution C A exon_variant LUSC-US 12 39726780 39726780 single base substitution C A missense_variant A220S 658G>T LUSC-US 12 39726780 39726780 single base substitution C A missense_variant A837S 2509G>T LUSC-US 12 39726780 39726780 single base substitution C A missense_variant A860S 2578G>T LUSC-US 12 39726780 39726780 single base substitution C A missense_variant A873S 2617G>T LUSC-US 12 39726780 39726780 single base substitution C A upstream_gene_variant LUSC-US 12 39726900 39726900 single base substitution G C exon_variant LUSC-US 12 39726900 39726900 single base substitution G C missense_variant L180V 538C>G LUSC-US 12 39726900 39726900 single base substitution G C missense_variant L797V 2389C>G LUSC-US 12 39726900 39726900 single base substitution G C missense_variant L820V 2458C>G LUSC-US 12 39726900 39726900 single base substitution G C missense_variant L833V 2497C>G LUSC-US 12 39726900 39726900 single base substitution G C upstream_gene_variant LUSC-US 12 39734052 39734052 single base substitution T A missense_variant H729L 2186A>T LUSC-US 12 39734052 39734052 single base substitution T A missense_variant H742L 2225A>T LUSC-US 12 39734052 39734052 single base substitution T A missense_variant H89L 266A>T LUSC-US 12 39734052 39734052 single base substitution T A upstream_gene_variant LUSC-US 12 39734805 39734805 single base substitution C A synonymous_variant L18L 54G>T LUSC-US 12 39734805 39734805 single base substitution C A synonymous_variant L658L 1974G>T LUSC-US 12 39734805 39734805 single base substitution C A synonymous_variant L671L 2013G>T LUSC-US 12 39734805 39734805 single base substitution C A upstream_gene_variant LUSC-US 12 39735383 39735383 single base substitution C A missense_variant E602D 1806G>T LUSC-US 12 39735383 39735383 single base substitution C A missense_variant E615D 1845G>T LUSC-US 12 39735383 39735383 single base substitution C A upstream_gene_variant LUSC-US 12 39751147 39751147 single base substitution A T synonymous_variant R259R 777T>A LUSC-US 12 39751147 39751147 single base substitution A T synonymous_variant R436R 1308T>A LUSC-US 12 39751147 39751147 single base substitution A T upstream_gene_variant LUSC-US 12 39752079 39752079 single base substitution C G missense_variant K195N 585G>C LUSC-US 12 39752079 39752079 single base substitution C G missense_variant K372N 1116G>C LUSC-US 12 39752079 39752079 single base substitution C G upstream_gene_variant LUSC-US 12 39756974 39756974 single base substitution G C missense_variant S138R 414C>G LUSC-US 12 39756974 39756974 single base substitution G C missense_variant S315R 945C>G LUSC-US 12 39760235 39760235 single base substitution C G missense_variant D274H 820G>C LUSC-US 12 39760235 39760235 single base substitution C G missense_variant D97H 289G>C LUSC-US 12 39763666 39763666 single base substitution G A synonymous_variant N105N 315C>T LUSC-US 12 39763666 39763666 single base substitution G A upstream_gene_variant MALY-DE 12 39683856 39683856 single base substitution G C downstream_gene_variant MALY-DE 12 39683995 39683995 single base substitution G A downstream_gene_variant MALY-DE 12 39687036 39687036 single base substitution C A 3_prime_UTR_variant MALY-DE 12 39687036 39687036 single base substitution C A downstream_gene_variant MALY-DE 12 39687036 39687036 single base substitution C A exon_variant MALY-DE 12 39688655 39688655 single base substitution A C intron_variant MALY-DE 12 39688744 39688744 single base substitution T G intron_variant MALY-DE 12 39694170 39694170 single base substitution A G intron_variant MALY-DE 12 39696932 39696932 single base substitution A G exon_variant MALY-DE 12 39696932 39696932 single base substitution A G synonymous_variant F1469F 4407T>C MALY-DE 12 39696932 39696932 single base substitution A G synonymous_variant F1485F 4455T>C MALY-DE 12 39696932 39696932 single base substitution A G synonymous_variant F1509F 4527T>C MALY-DE 12 39696932 39696932 single base substitution A G synonymous_variant F1522F 4566T>C MALY-DE 12 39696932 39696932 single base substitution A G synonymous_variant F1523F 4569T>C MALY-DE 12 39696932 39696932 single base substitution A G synonymous_variant F503F 1509T>C MALY-DE 12 39696932 39696932 single base substitution A G synonymous_variant F822F 2466T>C MALY-DE 12 39697712 39697712 single base substitution A C intron_variant MALY-DE 12 39703666 39703666 single base substitution G A intron_variant MALY-DE 12 39704557 39704557 single base substitution T C intron_variant MALY-DE 12 39705175 39705175 single base substitution A T intron_variant MALY-DE 12 39706679 39706679 single base substitution G A intron_variant MALY-DE 12 39706679 39706679 single base substitution G A upstream_gene_variant MALY-DE 12 39708794 39708794 single base substitution A G downstream_gene_variant MALY-DE 12 39708794 39708794 single base substitution A G intron_variant MALY-DE 12 39708794 39708794 single base substitution A G upstream_gene_variant MALY-DE 12 39709828 39709828 single base substitution G A downstream_gene_variant MALY-DE 12 39709828 39709828 single base substitution G A intron_variant MALY-DE 12 39709828 39709828 single base substitution G A upstream_gene_variant MALY-DE 12 39710272 39710272 single base substitution C A downstream_gene_variant MALY-DE 12 39710272 39710272 single base substitution C A intron_variant MALY-DE 12 39710272 39710272 single base substitution C A upstream_gene_variant MALY-DE 12 39715427 39715427 single base substitution T C 3_prime_UTR_variant MALY-DE 12 39715427 39715427 single base substitution T C exon_variant MALY-DE 12 39715427 39715427 single base substitution T C intron_variant MALY-DE 12 39716351 39716351 single base substitution G A 3_prime_UTR_variant MALY-DE 12 39716351 39716351 single base substitution G A intron_variant MALY-DE 12 39716351 39716351 single base substitution G A upstream_gene_variant MALY-DE 12 39723506 39723506 single base substitution G A downstream_gene_variant MALY-DE 12 39723506 39723506 single base substitution G A intron_variant MALY-DE 12 39732750 39732750 single base substitution A G intron_variant MALY-DE 12 39732750 39732750 single base substitution A G upstream_gene_variant MALY-DE 12 39732964 39732964 single base substitution C A intron_variant MALY-DE 12 39732964 39732964 single base substitution C A upstream_gene_variant MALY-DE 12 39734077 39734077 single base substitution T C missense_variant R721G 2161A>G MALY-DE 12 39734077 39734077 single base substitution T C missense_variant R734G 2200A>G MALY-DE 12 39734077 39734077 single base substitution T C missense_variant R81G 241A>G MALY-DE 12 39734077 39734077 single base substitution T C upstream_gene_variant MALY-DE 12 39734924 39734924 single base substitution C T intron_variant MALY-DE 12 39734924 39734924 single base substitution C T upstream_gene_variant MALY-DE 12 39735189 39735189 single base substitution T G intron_variant MALY-DE 12 39735189 39735189 single base substitution T G upstream_gene_variant MALY-DE 12 39736044 39736044 single base substitution C A intron_variant MALY-DE 12 39736044 39736044 single base substitution C A upstream_gene_variant MALY-DE 12 39739477 39739477 single base substitution T A intron_variant MALY-DE 12 39739477 39739477 single base substitution T A upstream_gene_variant MALY-DE 12 39744024 39744024 single base substitution C T intron_variant MALY-DE 12 39745737 39745737 single base substitution T C downstream_gene_variant MALY-DE 12 39745737 39745737 single base substitution T C synonymous_variant K505K 1515A>G MALY-DE 12 39753824 39753824 single base substitution G A intron_variant MALY-DE 12 39753824 39753824 single base substitution G A upstream_gene_variant MALY-DE 12 39757426 39757426 single base substitution T C intron_variant MALY-DE 12 39776565 39776565 single base substitution A T intron_variant MALY-DE 12 39786202 39786202 single base substitution C G intron_variant MALY-DE 12 39797703 39797703 single base substitution A G intron_variant MALY-DE 12 39798816 39798816 single base substitution C A intron_variant MALY-DE 12 39807713 39807713 deletion of <=200bp A - intron_variant MALY-DE 12 39808724 39808724 single base substitution T G intron_variant MALY-DE 12 39810575 39810575 single base substitution A T intron_variant MALY-DE 12 39811480 39811480 single base substitution C G intron_variant MALY-DE 12 39815202 39815202 single base substitution G A intron_variant MALY-DE 12 39817053 39817053 single base substitution C T intron_variant MALY-DE 12 39818474 39818497 deletion of <=200bp CAAGTCCTAACAGCTCTATCTCCC - intron_variant MALY-DE 12 39819200 39819200 single base substitution A C intron_variant MALY-DE 12 39820266 39820266 single base substitution T G intron_variant MALY-DE 12 39826741 39826741 single base substitution T C intron_variant MALY-DE 12 39827160 39827160 deletion of <=200bp A - intron_variant MALY-DE 12 39828878 39828878 single base substitution C T intron_variant MALY-DE 12 39830877 39830877 single base substitution A G intron_variant MALY-DE 12 39832280 39832280 single base substitution C T intron_variant MALY-DE 12 39839812 39839812 single base substitution A T upstream_gene_variant MALY-DE 12 39840461 39840461 single base substitution T G upstream_gene_variant MALY-DE 12 39841577 39841577 single base substitution C T upstream_gene_variant MALY-DE 12 39841978 39841978 single base substitution T A upstream_gene_variant MELA-AU 12 39682090 39682090 single base substitution G A downstream_gene_variant MELA-AU 12 39682417 39682417 single base substitution T C downstream_gene_variant MELA-AU 12 39682478 39682478 single base substitution G A downstream_gene_variant MELA-AU 12 39684444 39684444 single base substitution G A downstream_gene_variant MELA-AU 12 39684581 39684581 single base substitution G A downstream_gene_variant MELA-AU 12 39684621 39684621 single base substitution T C downstream_gene_variant MELA-AU 12 39685201 39685201 single base substitution C T downstream_gene_variant MELA-AU 12 39685751 39685751 single base substitution C T downstream_gene_variant MELA-AU 12 39686060 39686060 single base substitution T A downstream_gene_variant MELA-AU 12 39686465 39686465 single base substitution C T downstream_gene_variant MELA-AU 12 39686752 39686752 single base substitution G A downstream_gene_variant MELA-AU 12 39687403 39687403 single base substitution G A 3_prime_UTR_variant MELA-AU 12 39687403 39687403 single base substitution G A downstream_gene_variant MELA-AU 12 39687403 39687403 single base substitution G A exon_variant MELA-AU 12 39687462 39687462 single base substitution G A 3_prime_UTR_variant MELA-AU 12 39687462 39687462 single base substitution G A downstream_gene_variant MELA-AU 12 39687462 39687462 single base substitution G A exon_variant MELA-AU 12 39687532 39687532 single base substitution C T 3_prime_UTR_variant MELA-AU 12 39687532 39687532 single base substitution C T downstream_gene_variant MELA-AU 12 39687532 39687532 single base substitution C T exon_variant MELA-AU 12 39688495 39688495 single base substitution A G intron_variant MELA-AU 12 39688834 39688834 single base substitution G T intron_variant MELA-AU 12 39688944 39688944 single base substitution A G intron_variant MELA-AU 12 39689341 39689341 single base substitution C T intron_variant MELA-AU 12 39689411 39689411 single base substitution C G intron_variant MELA-AU 12 39689495 39689495 single base substitution T C intron_variant MELA-AU 12 39689550 39689550 single base substitution G A intron_variant MELA-AU 12 39689803 39689803 single base substitution G A intron_variant MELA-AU 12 39690403 39690403 single base substitution G A intron_variant MELA-AU 12 39690814 39690814 single base substitution G A intron_variant MELA-AU 12 39690978 39690978 single base substitution G A intron_variant MELA-AU 12 39692341 39692341 single base substitution C T intron_variant MELA-AU 12 39692354 39692354 single base substitution A C intron_variant MELA-AU 12 39692990 39692990 single base substitution G A intron_variant MELA-AU 12 39693252 39693252 single base substitution T A intron_variant MELA-AU 12 39693254 39693254 single base substitution A C intron_variant MELA-AU 12 39693774 39693774 single base substitution G A intron_variant MELA-AU 12 39694250 39694250 single base substitution A T intron_variant MELA-AU 12 39694589 39694589 single base substitution C T intron_variant MELA-AU 12 39694900 39694900 single base substitution G A intron_variant MELA-AU 12 39695049 39695049 single base substitution C T intron_variant MELA-AU 12 39695602 39695602 single base substitution A T intron_variant MELA-AU 12 39696070 39696070 single base substitution G A intron_variant MELA-AU 12 39697156 39697156 single base substitution T G intron_variant MELA-AU 12 39697196 39697196 single base substitution G A intron_variant MELA-AU 12 39697502 39697502 single base substitution G A intron_variant MELA-AU 12 39697601 39697601 single base substitution G A intron_variant MELA-AU 12 39697758 39697758 single base substitution C T intron_variant MELA-AU 12 39697817 39697817 single base substitution A G intron_variant MELA-AU 12 39697832 39697832 single base substitution T A intron_variant MELA-AU 12 39698058 39698058 single base substitution C T intron_variant MELA-AU 12 39698087 39698087 single base substitution C T intron_variant MELA-AU 12 39698107 39698107 single base substitution C T intron_variant MELA-AU 12 39698135 39698135 single base substitution C T intron_variant MELA-AU 12 39698489 39698489 single base substitution G A intron_variant MELA-AU 12 39698814 39698814 single base substitution G A downstream_gene_variant MELA-AU 12 39698814 39698814 single base substitution G A intron_variant MELA-AU 12 39698858 39698858 single base substitution T C downstream_gene_variant MELA-AU 12 39698858 39698858 single base substitution T C intron_variant MELA-AU 12 39699461 39699461 single base substitution T A downstream_gene_variant MELA-AU 12 39699461 39699461 single base substitution T A intron_variant MELA-AU 12 39700316 39700316 deletion of <=200bp T - downstream_gene_variant MELA-AU 12 39700316 39700316 deletion of <=200bp T - intron_variant MELA-AU 12 39701010 39701010 single base substitution G A downstream_gene_variant MELA-AU 12 39701010 39701010 single base substitution G A intron_variant MELA-AU 12 39701607 39701607 single base substitution G A downstream_gene_variant MELA-AU 12 39701607 39701607 single base substitution G A intron_variant MELA-AU 12 39702323 39702323 single base substitution C T downstream_gene_variant MELA-AU 12 39702323 39702323 single base substitution C T intron_variant MELA-AU 12 39702340 39702340 single base substitution G A downstream_gene_variant MELA-AU 12 39702340 39702340 single base substitution G A intron_variant MELA-AU 12 39702451 39702451 single base substitution A C downstream_gene_variant MELA-AU 12 39702451 39702451 single base substitution A C intron_variant MELA-AU 12 39702566 39702566 single base substitution G A downstream_gene_variant MELA-AU 12 39702566 39702566 single base substitution G A intron_variant MELA-AU 12 39702668 39702668 single base substitution A G downstream_gene_variant MELA-AU 12 39702668 39702668 single base substitution A G intron_variant MELA-AU 12 39703272 39703272 single base substitution G A downstream_gene_variant MELA-AU 12 39703272 39703272 single base substitution G A intron_variant MELA-AU 12 39703869 39703869 single base substitution G A intron_variant MELA-AU 12 39704252 39704252 single base substitution G A intron_variant MELA-AU 12 39704267 39704267 single base substitution C T intron_variant MELA-AU 12 39705858 39705858 single base substitution G A exon_variant MELA-AU 12 39705858 39705858 single base substitution G A intron_variant MELA-AU 12 39705865 39705865 single base substitution G A exon_variant MELA-AU 12 39705865 39705865 single base substitution G A intron_variant MELA-AU 12 39705890 39705890 single base substitution G A exon_variant MELA-AU 12 39705890 39705890 single base substitution G A intron_variant MELA-AU 12 39705974 39705974 single base substitution T G exon_variant MELA-AU 12 39705974 39705974 single base substitution T G intron_variant MELA-AU 12 39705976 39705976 single base substitution G A exon_variant MELA-AU 12 39705976 39705976 single base substitution G A intron_variant MELA-AU 12 39707910 39707910 single base substitution A T intron_variant MELA-AU 12 39707910 39707910 single base substitution A T upstream_gene_variant MELA-AU 12 39707934 39707934 single base substitution G A intron_variant MELA-AU 12 39707934 39707934 single base substitution G A upstream_gene_variant MELA-AU 12 39709167 39709167 single base substitution A T downstream_gene_variant MELA-AU 12 39709167 39709167 single base substitution A T intron_variant MELA-AU 12 39709167 39709167 single base substitution A T upstream_gene_variant MELA-AU 12 39709184 39709184 single base substitution G A downstream_gene_variant MELA-AU 12 39709184 39709184 single base substitution G A intron_variant MELA-AU 12 39709184 39709184 single base substitution G A upstream_gene_variant MELA-AU 12 39709746 39709746 single base substitution G A downstream_gene_variant MELA-AU 12 39709746 39709746 single base substitution G A intron_variant MELA-AU 12 39709746 39709746 single base substitution G A missense_variant S1299L 3896C>T MELA-AU 12 39709746 39709746 single base substitution G A missense_variant S1312L 3935C>T MELA-AU 12 39709746 39709746 single base substitution G A missense_variant S616L 1847C>T MELA-AU 12 39709746 39709746 single base substitution G A upstream_gene_variant MELA-AU 12 39710124 39710124 single base substitution G A downstream_gene_variant MELA-AU 12 39710124 39710124 single base substitution G A intron_variant MELA-AU 12 39710124 39710124 single base substitution G A upstream_gene_variant MELA-AU 12 39710331 39710332 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 39710331 39710332 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 39710331 39710332 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 39710388 39710388 single base substitution G A downstream_gene_variant MELA-AU 12 39710388 39710388 single base substitution G A intron_variant MELA-AU 12 39710388 39710388 single base substitution G A upstream_gene_variant MELA-AU 12 39710547 39710547 single base substitution G A downstream_gene_variant MELA-AU 12 39710547 39710547 single base substitution G A intron_variant MELA-AU 12 39710547 39710547 single base substitution G A upstream_gene_variant MELA-AU 12 39711392 39711392 single base substitution G A downstream_gene_variant MELA-AU 12 39711392 39711392 single base substitution G A intron_variant MELA-AU 12 39711392 39711392 single base substitution G A upstream_gene_variant MELA-AU 12 39711627 39711627 single base substitution G A downstream_gene_variant MELA-AU 12 39711627 39711627 single base substitution G A intron_variant MELA-AU 12 39711627 39711627 single base substitution G A upstream_gene_variant MELA-AU 12 39712215 39712215 single base substitution G A downstream_gene_variant MELA-AU 12 39712215 39712215 single base substitution G A intron_variant MELA-AU 12 39712492 39712492 single base substitution G A downstream_gene_variant MELA-AU 12 39712492 39712492 single base substitution G A intron_variant MELA-AU 12 39713071 39713071 single base substitution G A downstream_gene_variant MELA-AU 12 39713071 39713071 single base substitution G A intron_variant MELA-AU 12 39713129 39713129 single base substitution G T downstream_gene_variant MELA-AU 12 39713129 39713129 single base substitution G T intron_variant MELA-AU 12 39713330 39713330 single base substitution A T downstream_gene_variant MELA-AU 12 39713330 39713330 single base substitution A T intron_variant MELA-AU 12 39713379 39713379 single base substitution T C downstream_gene_variant MELA-AU 12 39713379 39713379 single base substitution T C intron_variant MELA-AU 12 39713381 39713381 single base substitution T A downstream_gene_variant MELA-AU 12 39713381 39713381 single base substitution T A intron_variant MELA-AU 12 39713769 39713769 single base substitution G A downstream_gene_variant MELA-AU 12 39713769 39713769 single base substitution G A exon_variant MELA-AU 12 39713769 39713769 single base substitution G A missense_variant P1204S 3610C>T MELA-AU 12 39713769 39713769 single base substitution G A missense_variant P1220S 3658C>T MELA-AU 12 39713769 39713769 single base substitution G A missense_variant P1227S 3679C>T MELA-AU 12 39713769 39713769 single base substitution G A missense_variant P1240S 3718C>T MELA-AU 12 39713769 39713769 single base substitution G A missense_variant P281S 841C>T MELA-AU 12 39713769 39713769 single base substitution G A missense_variant P587S 1759C>T MELA-AU 12 39714858 39714858 single base substitution A T intron_variant MELA-AU 12 39715449 39715449 single base substitution G C 3_prime_UTR_variant MELA-AU 12 39715449 39715449 single base substitution G C exon_variant MELA-AU 12 39715449 39715449 single base substitution G C intron_variant MELA-AU 12 39716326 39716326 single base substitution G A 3_prime_UTR_variant MELA-AU 12 39716326 39716326 single base substitution G A intron_variant MELA-AU 12 39716326 39716326 single base substitution G A upstream_gene_variant MELA-AU 12 39716653 39716656 deletion of <=200bp AATT - exon_variant MELA-AU 12 39716653 39716656 deletion of <=200bp AATT - frameshift_variant EL1126 MELA-AU 12 39716653 39716656 deletion of <=200bp AATT - frameshift_variant EL1142 MELA-AU 12 39716653 39716656 deletion of <=200bp AATT - frameshift_variant EL1149 MELA-AU 12 39716653 39716656 deletion of <=200bp AATT - frameshift_variant EL1162 MELA-AU 12 39716653 39716656 deletion of <=200bp AATT - frameshift_variant EL203 MELA-AU 12 39716653 39716656 deletion of <=200bp AATT - frameshift_variant EL509 MELA-AU 12 39716653 39716656 deletion of <=200bp AATT - intron_variant MELA-AU 12 39716653 39716656 deletion of <=200bp AATT - upstream_gene_variant MELA-AU 12 39716893 39716893 single base substitution A T intron_variant MELA-AU 12 39716893 39716893 single base substitution A T upstream_gene_variant MELA-AU 12 39718453 39718453 single base substitution G A intron_variant MELA-AU 12 39718453 39718453 single base substitution G A upstream_gene_variant MELA-AU 12 39719257 39719257 single base substitution C T downstream_gene_variant MELA-AU 12 39719257 39719257 single base substitution C T intron_variant MELA-AU 12 39719257 39719257 single base substitution C T upstream_gene_variant MELA-AU 12 39719504 39719504 single base substitution A G downstream_gene_variant MELA-AU 12 39719504 39719504 single base substitution A G intron_variant MELA-AU 12 39719504 39719504 single base substitution A G upstream_gene_variant MELA-AU 12 39719832 39719832 single base substitution G A downstream_gene_variant MELA-AU 12 39719832 39719832 single base substitution G A intron_variant MELA-AU 12 39719832 39719832 single base substitution G A upstream_gene_variant MELA-AU 12 39719883 39719883 single base substitution C T downstream_gene_variant MELA-AU 12 39719883 39719883 single base substitution C T intron_variant MELA-AU 12 39719883 39719883 single base substitution C T upstream_gene_variant MELA-AU 12 39721207 39721207 single base substitution G A downstream_gene_variant MELA-AU 12 39721207 39721207 single base substitution G A intron_variant MELA-AU 12 39721750 39721750 single base substitution T C downstream_gene_variant MELA-AU 12 39721750 39721750 single base substitution T C intron_variant MELA-AU 12 39723259 39723260 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 39723259 39723260 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 39724135 39724135 single base substitution C A downstream_gene_variant MELA-AU 12 39724135 39724135 single base substitution C A intron_variant MELA-AU 12 39724298 39724298 single base substitution C T downstream_gene_variant MELA-AU 12 39724298 39724298 single base substitution C T intron_variant MELA-AU 12 39724475 39724475 single base substitution G A downstream_gene_variant MELA-AU 12 39724475 39724475 single base substitution G A intron_variant MELA-AU 12 39724488 39724488 single base substitution C T downstream_gene_variant MELA-AU 12 39724488 39724488 single base substitution C T intron_variant MELA-AU 12 39724643 39724643 single base substitution G A downstream_gene_variant MELA-AU 12 39724643 39724643 single base substitution G A exon_variant MELA-AU 12 39724643 39724643 single base substitution G A missense_variant T1039I 3116C>T MELA-AU 12 39724643 39724643 single base substitution G A missense_variant T1062I 3185C>T MELA-AU 12 39724643 39724643 single base substitution G A missense_variant T1075I 3224C>T MELA-AU 12 39724643 39724643 single base substitution G A missense_variant T123I 368C>T MELA-AU 12 39724643 39724643 single base substitution G A missense_variant T422I 1265C>T MELA-AU 12 39724643 39724643 single base substitution G A missense_variant T96I 287C>T MELA-AU 12 39724901 39724901 single base substitution G A downstream_gene_variant MELA-AU 12 39724901 39724901 single base substitution G A intron_variant MELA-AU 12 39725014 39725014 single base substitution G A downstream_gene_variant MELA-AU 12 39725014 39725014 single base substitution G A intron_variant MELA-AU 12 39725247 39725247 single base substitution G A downstream_gene_variant MELA-AU 12 39725247 39725247 single base substitution G A intron_variant MELA-AU 12 39726181 39726181 single base substitution C T downstream_gene_variant MELA-AU 12 39726181 39726181 single base substitution C T exon_variant MELA-AU 12 39726181 39726181 single base substitution C T synonymous_variant E10E 30G>A MELA-AU 12 39726181 39726181 single base substitution C T synonymous_variant E309E 927G>A MELA-AU 12 39726181 39726181 single base substitution C T synonymous_variant E926E 2778G>A MELA-AU 12 39726181 39726181 single base substitution C T synonymous_variant E949E 2847G>A MELA-AU 12 39726181 39726181 single base substitution C T synonymous_variant E962E 2886G>A MELA-AU 12 39726181 39726181 single base substitution C T upstream_gene_variant MELA-AU 12 39726502 39726502 single base substitution G A downstream_gene_variant MELA-AU 12 39726502 39726502 single base substitution G A exon_variant MELA-AU 12 39726502 39726502 single base substitution G A missense_variant S263F 788C>T MELA-AU 12 39726502 39726502 single base substitution G A missense_variant S880F 2639C>T MELA-AU 12 39726502 39726502 single base substitution G A missense_variant S903F 2708C>T MELA-AU 12 39726502 39726502 single base substitution G A missense_variant S916F 2747C>T MELA-AU 12 39726502 39726502 single base substitution G A upstream_gene_variant MELA-AU 12 39726881 39726881 single base substitution G A exon_variant MELA-AU 12 39726881 39726881 single base substitution G A missense_variant P186L 557C>T MELA-AU 12 39726881 39726881 single base substitution G A missense_variant P803L 2408C>T MELA-AU 12 39726881 39726881 single base substitution G A missense_variant P826L 2477C>T MELA-AU 12 39726881 39726881 single base substitution G A missense_variant P839L 2516C>T MELA-AU 12 39726881 39726881 single base substitution G A upstream_gene_variant MELA-AU 12 39726897 39726897 single base substitution G A exon_variant MELA-AU 12 39726897 39726897 single base substitution G A missense_variant R181C 541C>T MELA-AU 12 39726897 39726897 single base substitution G A missense_variant R798C 2392C>T MELA-AU 12 39726897 39726897 single base substitution G A missense_variant R821C 2461C>T MELA-AU 12 39726897 39726897 single base substitution G A missense_variant R834C 2500C>T MELA-AU 12 39726897 39726897 single base substitution G A upstream_gene_variant MELA-AU 12 39727183 39727183 single base substitution T C intron_variant MELA-AU 12 39727183 39727183 single base substitution T C upstream_gene_variant MELA-AU 12 39727205 39727205 single base substitution A C intron_variant MELA-AU 12 39727205 39727205 single base substitution A C upstream_gene_variant MELA-AU 12 39727393 39727393 deletion of <=200bp A - intron_variant MELA-AU 12 39727393 39727393 deletion of <=200bp A - upstream_gene_variant MELA-AU 12 39727569 39727569 single base substitution G A intron_variant MELA-AU 12 39727569 39727569 single base substitution G A upstream_gene_variant MELA-AU 12 39727764 39727764 single base substitution G A intron_variant MELA-AU 12 39727764 39727764 single base substitution G A upstream_gene_variant MELA-AU 12 39727910 39727910 single base substitution G A intron_variant MELA-AU 12 39727910 39727910 single base substitution G A upstream_gene_variant MELA-AU 12 39728972 39728973 multiple base substitution (>=2bp and <=200bp) GG CA intron_variant MELA-AU 12 39728972 39728973 multiple base substitution (>=2bp and <=200bp) GG CA upstream_gene_variant MELA-AU 12 39729140 39729140 single base substitution G A intron_variant MELA-AU 12 39729140 39729140 single base substitution G A upstream_gene_variant MELA-AU 12 39729427 39729427 single base substitution T C intron_variant MELA-AU 12 39729427 39729427 single base substitution T C upstream_gene_variant MELA-AU 12 39729843 39729843 single base substitution G A intron_variant MELA-AU 12 39729843 39729843 single base substitution G A upstream_gene_variant MELA-AU 12 39729875 39729875 single base substitution G A intron_variant MELA-AU 12 39729875 39729875 single base substitution G A upstream_gene_variant MELA-AU 12 39730273 39730273 single base substitution C A intron_variant MELA-AU 12 39730273 39730273 single base substitution C A upstream_gene_variant MELA-AU 12 39730459 39730459 single base substitution G A intron_variant MELA-AU 12 39730459 39730459 single base substitution G A upstream_gene_variant MELA-AU 12 39730622 39730622 single base substitution G A intron_variant MELA-AU 12 39730622 39730622 single base substitution G A upstream_gene_variant MELA-AU 12 39731066 39731066 single base substitution C T exon_variant MELA-AU 12 39731066 39731066 single base substitution C T intron_variant MELA-AU 12 39731066 39731066 single base substitution C T upstream_gene_variant MELA-AU 12 39731420 39731420 single base substitution A T intron_variant MELA-AU 12 39731420 39731420 single base substitution A T upstream_gene_variant MELA-AU 12 39731590 39731590 single base substitution A T intron_variant MELA-AU 12 39731590 39731590 single base substitution A T upstream_gene_variant MELA-AU 12 39732166 39732166 single base substitution G A intron_variant MELA-AU 12 39732166 39732166 single base substitution G A upstream_gene_variant MELA-AU 12 39733949 39733949 single base substitution G A intron_variant MELA-AU 12 39733949 39733949 single base substitution G A upstream_gene_variant MELA-AU 12 39734161 39734161 single base substitution C T missense_variant V53I 157G>A MELA-AU 12 39734161 39734161 single base substitution C T missense_variant V693I 2077G>A MELA-AU 12 39734161 39734161 single base substitution C T missense_variant V706I 2116G>A MELA-AU 12 39734161 39734161 single base substitution C T upstream_gene_variant MELA-AU 12 39735878 39735878 single base substitution T G missense_variant E574D 1722A>C MELA-AU 12 39735878 39735878 single base substitution T G missense_variant E587D 1761A>C MELA-AU 12 39735878 39735878 single base substitution T G upstream_gene_variant MELA-AU 12 39735937 39735937 single base substitution G A intron_variant MELA-AU 12 39735937 39735937 single base substitution G A upstream_gene_variant MELA-AU 12 39735968 39735968 single base substitution G A intron_variant MELA-AU 12 39735968 39735968 single base substitution G A upstream_gene_variant MELA-AU 12 39735968 39735968 single base substitution G T intron_variant MELA-AU 12 39735968 39735968 single base substitution G T upstream_gene_variant MELA-AU 12 39736178 39736178 single base substitution G A intron_variant MELA-AU 12 39736178 39736178 single base substitution G A upstream_gene_variant MELA-AU 12 39736392 39736392 single base substitution T C intron_variant MELA-AU 12 39736392 39736392 single base substitution T C upstream_gene_variant MELA-AU 12 39737057 39737057 single base substitution G A intron_variant MELA-AU 12 39737057 39737057 single base substitution G A upstream_gene_variant MELA-AU 12 39737065 39737065 single base substitution G A intron_variant MELA-AU 12 39737065 39737065 single base substitution G A upstream_gene_variant MELA-AU 12 39737145 39737145 single base substitution G A intron_variant MELA-AU 12 39737145 39737145 single base substitution G A upstream_gene_variant MELA-AU 12 39737796 39737796 single base substitution G A intron_variant MELA-AU 12 39737796 39737796 single base substitution G A upstream_gene_variant MELA-AU 12 39738001 39738001 single base substitution G A intron_variant MELA-AU 12 39738001 39738001 single base substitution G A upstream_gene_variant MELA-AU 12 39738580 39738580 single base substitution C T intron_variant MELA-AU 12 39738580 39738580 single base substitution C T upstream_gene_variant MELA-AU 12 39738621 39738621 single base substitution T C intron_variant MELA-AU 12 39738621 39738621 single base substitution T C upstream_gene_variant MELA-AU 12 39739306 39739306 single base substitution T A intron_variant MELA-AU 12 39739306 39739306 single base substitution T A upstream_gene_variant MELA-AU 12 39739421 39739421 single base substitution G A intron_variant MELA-AU 12 39739421 39739421 single base substitution G A upstream_gene_variant MELA-AU 12 39740255 39740255 single base substitution G A intron_variant MELA-AU 12 39740332 39740332 single base substitution G A intron_variant MELA-AU 12 39740351 39740351 single base substitution G A intron_variant MELA-AU 12 39740825 39740825 single base substitution A T intron_variant MELA-AU 12 39741167 39741167 single base substitution G A intron_variant MELA-AU 12 39741267 39741267 single base substitution G A intron_variant MELA-AU 12 39741397 39741397 single base substitution G A intron_variant MELA-AU 12 39741772 39741772 single base substitution G A intron_variant MELA-AU 12 39741790 39741790 single base substitution G A intron_variant MELA-AU 12 39741947 39741947 single base substitution C T intron_variant MELA-AU 12 39742484 39742484 single base substitution G A intron_variant MELA-AU 12 39742833 39742833 single base substitution G A intron_variant MELA-AU 12 39743219 39743219 single base substitution C T intron_variant MELA-AU 12 39743921 39743921 single base substitution G A intron_variant MELA-AU 12 39744138 39744138 single base substitution G A intron_variant MELA-AU 12 39744164 39744164 single base substitution G A intron_variant MELA-AU 12 39744165 39744165 single base substitution G A intron_variant MELA-AU 12 39745146 39745146 single base substitution G A intron_variant MELA-AU 12 39745336 39745336 single base substitution G A intron_variant MELA-AU 12 39746789 39746789 single base substitution A C downstream_gene_variant MELA-AU 12 39746789 39746789 single base substitution A C intron_variant MELA-AU 12 39747105 39747105 single base substitution G A downstream_gene_variant MELA-AU 12 39747105 39747105 single base substitution G A intron_variant MELA-AU 12 39747824 39747825 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 39747824 39747825 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 39747963 39747963 single base substitution A G downstream_gene_variant MELA-AU 12 39747963 39747963 single base substitution A G intron_variant MELA-AU 12 39748587 39748587 single base substitution C G downstream_gene_variant MELA-AU 12 39748587 39748587 single base substitution C G intron_variant MELA-AU 12 39748865 39748865 single base substitution C T downstream_gene_variant MELA-AU 12 39748865 39748865 single base substitution C T intron_variant MELA-AU 12 39749330 39749330 single base substitution G A downstream_gene_variant MELA-AU 12 39749330 39749330 single base substitution G A intron_variant MELA-AU 12 39749668 39749668 single base substitution C T downstream_gene_variant MELA-AU 12 39749668 39749668 single base substitution C T intron_variant MELA-AU 12 39749914 39749914 single base substitution G A downstream_gene_variant MELA-AU 12 39749914 39749914 single base substitution G A intron_variant MELA-AU 12 39750333 39750333 single base substitution C T downstream_gene_variant MELA-AU 12 39750333 39750333 single base substitution C T intron_variant MELA-AU 12 39750686 39750686 single base substitution C T downstream_gene_variant MELA-AU 12 39750686 39750686 single base substitution C T exon_variant MELA-AU 12 39750686 39750686 single base substitution C T missense_variant E473K 1417G>A MELA-AU 12 39751539 39751539 single base substitution C T intron_variant MELA-AU 12 39751539 39751539 single base substitution C T upstream_gene_variant MELA-AU 12 39751828 39751828 single base substitution G A intron_variant MELA-AU 12 39751828 39751828 single base substitution G A upstream_gene_variant MELA-AU 12 39751949 39751949 single base substitution A C intron_variant MELA-AU 12 39751949 39751949 single base substitution A C upstream_gene_variant MELA-AU 12 39752356 39752356 single base substitution G A intron_variant MELA-AU 12 39752356 39752356 single base substitution G A upstream_gene_variant MELA-AU 12 39752751 39752751 single base substitution G A intron_variant MELA-AU 12 39752751 39752751 single base substitution G A upstream_gene_variant MELA-AU 12 39753253 39753253 single base substitution A T intron_variant MELA-AU 12 39753253 39753253 single base substitution A T upstream_gene_variant MELA-AU 12 39754141 39754141 single base substitution C T intron_variant MELA-AU 12 39754141 39754141 single base substitution C T upstream_gene_variant MELA-AU 12 39754379 39754379 single base substitution G A intron_variant MELA-AU 12 39754379 39754379 single base substitution G A upstream_gene_variant MELA-AU 12 39754384 39754384 single base substitution G A intron_variant MELA-AU 12 39754384 39754384 single base substitution G A upstream_gene_variant MELA-AU 12 39754606 39754606 single base substitution G A intron_variant MELA-AU 12 39754606 39754606 single base substitution G A upstream_gene_variant MELA-AU 12 39754809 39754809 single base substitution G A intron_variant MELA-AU 12 39754809 39754809 single base substitution G A upstream_gene_variant MELA-AU 12 39754860 39754860 single base substitution A G intron_variant MELA-AU 12 39754860 39754860 single base substitution A G upstream_gene_variant MELA-AU 12 39754864 39754864 single base substitution A T intron_variant MELA-AU 12 39754864 39754864 single base substitution A T upstream_gene_variant MELA-AU 12 39754915 39754915 single base substitution A T intron_variant MELA-AU 12 39754915 39754915 single base substitution A T upstream_gene_variant MELA-AU 12 39755200 39755200 single base substitution G A intron_variant MELA-AU 12 39755200 39755200 single base substitution G A upstream_gene_variant MELA-AU 12 39755431 39755431 single base substitution C T intron_variant MELA-AU 12 39755431 39755431 single base substitution C T upstream_gene_variant MELA-AU 12 39755637 39755637 single base substitution G A intron_variant MELA-AU 12 39755637 39755637 single base substitution G A upstream_gene_variant MELA-AU 12 39755940 39755940 single base substitution C T intron_variant MELA-AU 12 39755940 39755940 single base substitution C T upstream_gene_variant MELA-AU 12 39756312 39756312 single base substitution C G intron_variant MELA-AU 12 39756504 39756504 single base substitution T A intron_variant MELA-AU 12 39756530 39756530 single base substitution C T intron_variant MELA-AU 12 39757753 39757753 single base substitution G C intron_variant MELA-AU 12 39757803 39757803 single base substitution G A intron_variant MELA-AU 12 39757833 39757833 single base substitution A C intron_variant MELA-AU 12 39758327 39758327 single base substitution G A intron_variant MELA-AU 12 39758766 39758766 single base substitution C T intron_variant MELA-AU 12 39759177 39759177 single base substitution G A intron_variant MELA-AU 12 39759740 39759740 single base substitution G A intron_variant MELA-AU 12 39759777 39759777 single base substitution G A intron_variant MELA-AU 12 39760883 39760883 single base substitution G A synonymous_variant A228A 684C>T MELA-AU 12 39760883 39760883 single base substitution G A synonymous_variant A51A 153C>T MELA-AU 12 39760976 39760976 single base substitution G A intron_variant MELA-AU 12 39760976 39760976 single base substitution G A synonymous_variant P20P 60C>T MELA-AU 12 39761491 39761491 single base substitution G A intron_variant MELA-AU 12 39761551 39761551 single base substitution G A intron_variant MELA-AU 12 39761743 39761743 single base substitution G A missense_variant S181L 542C>T MELA-AU 12 39761743 39761743 single base substitution G A upstream_gene_variant MELA-AU 12 39761753 39761753 single base substitution G A missense_variant H178Y 532C>T MELA-AU 12 39761753 39761753 single base substitution G A upstream_gene_variant MELA-AU 12 39761897 39761897 single base substitution C A intron_variant MELA-AU 12 39761897 39761897 single base substitution C A upstream_gene_variant MELA-AU 12 39762970 39762970 single base substitution G A intron_variant MELA-AU 12 39762970 39762970 single base substitution G A upstream_gene_variant MELA-AU 12 39763029 39763029 single base substitution G A intron_variant MELA-AU 12 39763029 39763029 single base substitution G A upstream_gene_variant MELA-AU 12 39764076 39764076 single base substitution A T intron_variant MELA-AU 12 39764076 39764076 single base substitution A T upstream_gene_variant MELA-AU 12 39764153 39764153 single base substitution C T intron_variant MELA-AU 12 39764153 39764153 single base substitution C T upstream_gene_variant MELA-AU 12 39764457 39764457 single base substitution G A intron_variant MELA-AU 12 39764457 39764457 single base substitution G A upstream_gene_variant MELA-AU 12 39764635 39764635 single base substitution A T intron_variant MELA-AU 12 39764635 39764635 single base substitution A T upstream_gene_variant MELA-AU 12 39765019 39765019 single base substitution G A intron_variant MELA-AU 12 39765019 39765019 single base substitution G A upstream_gene_variant MELA-AU 12 39765030 39765030 single base substitution T A intron_variant MELA-AU 12 39765030 39765030 single base substitution T A upstream_gene_variant MELA-AU 12 39765340 39765340 single base substitution G A intron_variant MELA-AU 12 39765340 39765340 single base substitution G A upstream_gene_variant MELA-AU 12 39765399 39765399 single base substitution G A intron_variant MELA-AU 12 39765399 39765399 single base substitution G A upstream_gene_variant MELA-AU 12 39765690 39765690 single base substitution C T intron_variant MELA-AU 12 39765690 39765690 single base substitution C T upstream_gene_variant MELA-AU 12 39766001 39766001 single base substitution G A intron_variant MELA-AU 12 39766001 39766001 single base substitution G A upstream_gene_variant MELA-AU 12 39766035 39766035 single base substitution G A intron_variant MELA-AU 12 39766035 39766035 single base substitution G A upstream_gene_variant MELA-AU 12 39766618 39766618 deletion of <=200bp C - intron_variant MELA-AU 12 39766618 39766618 deletion of <=200bp C - upstream_gene_variant MELA-AU 12 39767466 39767466 single base substitution T A intron_variant MELA-AU 12 39767913 39767913 single base substitution C T intron_variant MELA-AU 12 39768867 39768867 single base substitution G A intron_variant MELA-AU 12 39770409 39770409 single base substitution T A intron_variant MELA-AU 12 39770501 39770501 single base substitution A G intron_variant MELA-AU 12 39770518 39770518 single base substitution G A intron_variant MELA-AU 12 39770652 39770652 single base substitution C T intron_variant MELA-AU 12 39770806 39770806 single base substitution T C intron_variant MELA-AU 12 39771550 39771550 single base substitution T G intron_variant MELA-AU 12 39771770 39771770 single base substitution G A intron_variant MELA-AU 12 39772207 39772207 single base substitution G A intron_variant MELA-AU 12 39772456 39772456 single base substitution C T intron_variant MELA-AU 12 39772649 39772649 single base substitution G A intron_variant MELA-AU 12 39773158 39773158 single base substitution T A intron_variant MELA-AU 12 39773236 39773236 single base substitution A C intron_variant MELA-AU 12 39773615 39773615 single base substitution A G intron_variant MELA-AU 12 39774374 39774374 single base substitution G A intron_variant MELA-AU 12 39774432 39774432 single base substitution G A intron_variant MELA-AU 12 39774550 39774550 single base substitution G A intron_variant MELA-AU 12 39774563 39774563 single base substitution G A intron_variant MELA-AU 12 39774592 39774592 single base substitution G A intron_variant MELA-AU 12 39774625 39774625 single base substitution G A intron_variant MELA-AU 12 39774913 39774913 single base substitution C T intron_variant MELA-AU 12 39775077 39775077 single base substitution C T intron_variant MELA-AU 12 39775230 39775230 single base substitution G A intron_variant MELA-AU 12 39775288 39775288 single base substitution A G intron_variant MELA-AU 12 39775290 39775290 single base substitution G A intron_variant MELA-AU 12 39775291 39775291 single base substitution G A intron_variant MELA-AU 12 39775365 39775365 single base substitution G A intron_variant MELA-AU 12 39776069 39776069 single base substitution G A intron_variant MELA-AU 12 39777223 39777223 single base substitution G A intron_variant MELA-AU 12 39777658 39777658 single base substitution G A intron_variant MELA-AU 12 39777905 39777905 single base substitution A C intron_variant MELA-AU 12 39777987 39777987 single base substitution A G intron_variant MELA-AU 12 39778014 39778014 single base substitution G A intron_variant MELA-AU 12 39778195 39778195 single base substitution C T intron_variant MELA-AU 12 39778945 39778945 single base substitution C T intron_variant MELA-AU 12 39779453 39779453 single base substitution C T intron_variant MELA-AU 12 39779549 39779549 single base substitution T G intron_variant MELA-AU 12 39779761 39779761 single base substitution C T intron_variant MELA-AU 12 39780832 39780832 single base substitution C G intron_variant MELA-AU 12 39781185 39781185 single base substitution G A intron_variant MELA-AU 12 39781285 39781285 single base substitution G A intron_variant MELA-AU 12 39781930 39781930 single base substitution G A intron_variant MELA-AU 12 39781933 39781934 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 12 39782079 39782079 single base substitution T C intron_variant MELA-AU 12 39782767 39782767 single base substitution A T intron_variant MELA-AU 12 39782949 39782949 single base substitution T C intron_variant MELA-AU 12 39783013 39783013 single base substitution C T intron_variant MELA-AU 12 39783015 39783015 single base substitution T C intron_variant MELA-AU 12 39783017 39783017 single base substitution T C intron_variant MELA-AU 12 39783732 39783732 single base substitution G C intron_variant MELA-AU 12 39785326 39785326 single base substitution G A intron_variant MELA-AU 12 39785632 39785632 single base substitution C T intron_variant MELA-AU 12 39785905 39785905 single base substitution G A intron_variant MELA-AU 12 39785920 39785920 single base substitution T A intron_variant MELA-AU 12 39786019 39786019 single base substitution A G intron_variant MELA-AU 12 39786618 39786618 single base substitution A T intron_variant MELA-AU 12 39786726 39786726 single base substitution G A intron_variant MELA-AU 12 39786854 39786854 single base substitution A G intron_variant MELA-AU 12 39786869 39786869 single base substitution G A intron_variant MELA-AU 12 39787631 39787631 single base substitution A G intron_variant MELA-AU 12 39788641 39788641 single base substitution G A intron_variant MELA-AU 12 39789105 39789105 single base substitution C T intron_variant MELA-AU 12 39789436 39789436 single base substitution G A intron_variant MELA-AU 12 39789458 39789458 single base substitution A G intron_variant MELA-AU 12 39789846 39789846 single base substitution G T intron_variant MELA-AU 12 39790308 39790308 single base substitution G A intron_variant MELA-AU 12 39790443 39790443 single base substitution G A intron_variant MELA-AU 12 39791538 39791539 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 39791970 39791970 single base substitution G A intron_variant MELA-AU 12 39792649 39792649 single base substitution G A intron_variant MELA-AU 12 39793191 39793191 single base substitution C T intron_variant MELA-AU 12 39793650 39793651 deletion of <=200bp AG - intron_variant MELA-AU 12 39794191 39794191 single base substitution G A intron_variant MELA-AU 12 39794528 39794528 single base substitution A T intron_variant MELA-AU 12 39795293 39795293 single base substitution G A intron_variant MELA-AU 12 39795815 39795815 single base substitution G A intron_variant MELA-AU 12 39796389 39796389 single base substitution G A intron_variant MELA-AU 12 39796395 39796395 single base substitution C T intron_variant MELA-AU 12 39796704 39796704 single base substitution A G intron_variant MELA-AU 12 39797665 39797665 single base substitution G A intron_variant MELA-AU 12 39797774 39797774 single base substitution T C intron_variant MELA-AU 12 39800457 39800457 single base substitution G A intron_variant MELA-AU 12 39801025 39801025 single base substitution T C intron_variant MELA-AU 12 39801498 39801498 single base substitution G A intron_variant MELA-AU 12 39802285 39802285 single base substitution G A intron_variant MELA-AU 12 39803625 39803625 single base substitution C T intron_variant MELA-AU 12 39804018 39804018 single base substitution G A intron_variant MELA-AU 12 39804270 39804270 single base substitution C T intron_variant MELA-AU 12 39804923 39804923 single base substitution C T intron_variant MELA-AU 12 39805370 39805370 single base substitution C T intron_variant MELA-AU 12 39805590 39805590 single base substitution C T intron_variant MELA-AU 12 39805744 39805744 single base substitution C T intron_variant MELA-AU 12 39805771 39805771 single base substitution G A intron_variant MELA-AU 12 39806738 39806738 single base substitution A G intron_variant MELA-AU 12 39807111 39807111 single base substitution G A intron_variant MELA-AU 12 39807146 39807146 single base substitution C T intron_variant MELA-AU 12 39807635 39807635 single base substitution A G intron_variant MELA-AU 12 39807641 39807641 single base substitution C T intron_variant MELA-AU 12 39807726 39807726 single base substitution A G intron_variant MELA-AU 12 39808885 39808885 single base substitution G A intron_variant MELA-AU 12 39808907 39808907 single base substitution G A intron_variant MELA-AU 12 39809336 39809336 single base substitution G A intron_variant MELA-AU 12 39810219 39810219 single base substitution G A intron_variant MELA-AU 12 39812552 39812553 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 12 39812911 39812911 single base substitution G A intron_variant MELA-AU 12 39813118 39813118 single base substitution A C intron_variant MELA-AU 12 39813191 39813191 single base substitution A T intron_variant MELA-AU 12 39813262 39813262 single base substitution A T intron_variant MELA-AU 12 39813452 39813452 single base substitution C A intron_variant MELA-AU 12 39813512 39813512 single base substitution G A intron_variant MELA-AU 12 39813782 39813782 single base substitution G A intron_variant MELA-AU 12 39814120 39814120 single base substitution G A intron_variant MELA-AU 12 39814142 39814142 single base substitution G A intron_variant MELA-AU 12 39814174 39814174 single base substitution G A intron_variant MELA-AU 12 39814299 39814299 single base substitution C T intron_variant MELA-AU 12 39815390 39815390 single base substitution G A intron_variant MELA-AU 12 39816243 39816243 single base substitution C T intron_variant MELA-AU 12 39816798 39816798 single base substitution T C intron_variant MELA-AU 12 39816827 39816827 single base substitution G A intron_variant MELA-AU 12 39819474 39819474 single base substitution G A intron_variant MELA-AU 12 39821605 39821605 single base substitution T A intron_variant MELA-AU 12 39821797 39821797 single base substitution G A intron_variant MELA-AU 12 39822767 39822767 single base substitution A G intron_variant MELA-AU 12 39822808 39822808 single base substitution G A intron_variant MELA-AU 12 39823596 39823596 single base substitution G A intron_variant MELA-AU 12 39825193 39825193 single base substitution G T intron_variant MELA-AU 12 39825245 39825245 single base substitution A G intron_variant MELA-AU 12 39825452 39825452 single base substitution G A intron_variant MELA-AU 12 39825649 39825649 single base substitution T C intron_variant MELA-AU 12 39826872 39826872 single base substitution G A intron_variant MELA-AU 12 39827360 39827360 single base substitution G A intron_variant MELA-AU 12 39827508 39827508 single base substitution G A intron_variant MELA-AU 12 39827516 39827516 single base substitution G A intron_variant MELA-AU 12 39827527 39827527 single base substitution G A intron_variant MELA-AU 12 39828321 39828321 single base substitution C T intron_variant MELA-AU 12 39828324 39828324 single base substitution G A intron_variant MELA-AU 12 39828809 39828809 single base substitution C T intron_variant MELA-AU 12 39831042 39831042 single base substitution G A intron_variant MELA-AU 12 39831683 39831683 single base substitution G T intron_variant MELA-AU 12 39832053 39832053 single base substitution C T intron_variant MELA-AU 12 39832371 39832371 single base substitution T A intron_variant MELA-AU 12 39833159 39833159 single base substitution G A intron_variant MELA-AU 12 39833189 39833189 single base substitution A G intron_variant MELA-AU 12 39833326 39833326 single base substitution C T intron_variant MELA-AU 12 39833394 39833394 single base substitution G A intron_variant MELA-AU 12 39833423 39833423 single base substitution C T intron_variant MELA-AU 12 39833548 39833548 single base substitution C G intron_variant MELA-AU 12 39833590 39833590 single base substitution G A intron_variant MELA-AU 12 39833783 39833783 single base substitution G A intron_variant MELA-AU 12 39833899 39833899 single base substitution G A intron_variant MELA-AU 12 39833919 39833919 single base substitution G A intron_variant MELA-AU 12 39834332 39834332 single base substitution A G intron_variant MELA-AU 12 39834467 39834467 single base substitution T C intron_variant MELA-AU 12 39834510 39834510 single base substitution G A intron_variant MELA-AU 12 39835458 39835458 single base substitution G A intron_variant MELA-AU 12 39836575 39836575 single base substitution G A intron_variant MELA-AU 12 39837035 39837035 single base substitution A G 5_prime_UTR_variant MELA-AU 12 39837035 39837035 single base substitution A G upstream_gene_variant MELA-AU 12 39838170 39838170 single base substitution C T upstream_gene_variant MELA-AU 12 39838396 39838396 single base substitution G T upstream_gene_variant MELA-AU 12 39838707 39838707 single base substitution C T upstream_gene_variant MELA-AU 12 39839464 39839464 single base substitution C T upstream_gene_variant MELA-AU 12 39840194 39840194 single base substitution A T upstream_gene_variant MELA-AU 12 39840334 39840334 single base substitution G A upstream_gene_variant MELA-AU 12 39840336 39840336 single base substitution A T upstream_gene_variant MELA-AU 12 39840433 39840433 single base substitution G A upstream_gene_variant MELA-AU 12 39840667 39840667 single base substitution A G upstream_gene_variant MELA-AU 12 39840751 39840751 single base substitution G A upstream_gene_variant MELA-AU 12 39840794 39840794 single base substitution G T upstream_gene_variant MELA-AU 12 39840813 39840813 single base substitution G A upstream_gene_variant MELA-AU 12 39841086 39841086 single base substitution C T upstream_gene_variant MELA-AU 12 39841267 39841267 single base substitution G A upstream_gene_variant MELA-AU 12 39841326 39841326 single base substitution C T upstream_gene_variant MELA-AU 12 39841430 39841430 single base substitution C T upstream_gene_variant MELA-AU 12 39841523 39841523 single base substitution C T upstream_gene_variant ORCA-IN 12 39703509 39703509 single base substitution G T downstream_gene_variant ORCA-IN 12 39703509 39703509 single base substitution G T exon_variant ORCA-IN 12 39703509 39703509 single base substitution G T missense_variant H1333N 3997C>A ORCA-IN 12 39703509 39703509 single base substitution G T missense_variant H1349N 4045C>A ORCA-IN 12 39703509 39703509 single base substitution G T missense_variant H1373N 4117C>A ORCA-IN 12 39703509 39703509 single base substitution G T missense_variant H1386N 4156C>A ORCA-IN 12 39703509 39703509 single base substitution G T missense_variant H1387N 4159C>A ORCA-IN 12 39703509 39703509 single base substitution G T missense_variant H367N 1099C>A ORCA-IN 12 39703509 39703509 single base substitution G T missense_variant H686N 2056C>A ORCA-IN 12 39728983 39728983 single base substitution C T intron_variant ORCA-IN 12 39728983 39728983 single base substitution C T upstream_gene_variant ORCA-IN 12 39734678 39734678 single base substitution A C intron_variant ORCA-IN 12 39734678 39734678 single base substitution A C upstream_gene_variant ORCA-IN 12 39751221 39751221 single base substitution C G missense_variant E235Q 703G>C ORCA-IN 12 39751221 39751221 single base substitution C G missense_variant E412Q 1234G>C ORCA-IN 12 39751221 39751221 single base substitution C G upstream_gene_variant ORCA-IN 12 39769573 39769573 single base substitution G A intron_variant ORCA-IN 12 39779759 39779759 single base substitution T C intron_variant ORCA-IN 12 39789890 39789890 single base substitution T C intron_variant ORCA-IN 12 39794919 39794919 single base substitution G C intron_variant ORCA-IN 12 39810218 39810218 single base substitution C T intron_variant ORCA-IN 12 39828320 39828320 single base substitution T C intron_variant OV-AU 12 39682037 39682037 single base substitution G C downstream_gene_variant OV-AU 12 39684591 39684591 single base substitution G A downstream_gene_variant OV-AU 12 39698943 39698943 single base substitution G A downstream_gene_variant OV-AU 12 39698943 39698943 single base substitution G A intron_variant OV-AU 12 39699605 39699605 single base substitution T C downstream_gene_variant OV-AU 12 39699605 39699605 single base substitution T C intron_variant OV-AU 12 39706520 39706520 single base substitution T A exon_variant OV-AU 12 39706520 39706520 single base substitution T A intron_variant OV-AU 12 39711340 39711340 single base substitution C A downstream_gene_variant OV-AU 12 39711340 39711340 single base substitution C A intron_variant OV-AU 12 39711340 39711340 single base substitution C A upstream_gene_variant OV-AU 12 39717905 39717905 single base substitution C G intron_variant OV-AU 12 39717905 39717905 single base substitution C G upstream_gene_variant OV-AU 12 39727030 39727030 single base substitution C T exon_variant OV-AU 12 39727030 39727030 single base substitution C T intron_variant OV-AU 12 39727030 39727030 single base substitution C T missense_variant R171H 512G>A OV-AU 12 39727030 39727030 single base substitution C T missense_variant R811H 2432G>A OV-AU 12 39727030 39727030 single base substitution C T missense_variant R824H 2471G>A OV-AU 12 39727030 39727030 single base substitution C T upstream_gene_variant OV-AU 12 39728135 39728135 single base substitution C T intron_variant OV-AU 12 39728135 39728135 single base substitution C T upstream_gene_variant OV-AU 12 39738358 39738358 single base substitution C G intron_variant OV-AU 12 39738358 39738358 single base substitution C G upstream_gene_variant OV-AU 12 39743046 39743046 single base substitution T C intron_variant OV-AU 12 39752248 39752248 single base substitution C T intron_variant OV-AU 12 39752248 39752248 single base substitution C T upstream_gene_variant OV-AU 12 39764146 39764146 single base substitution G C intron_variant OV-AU 12 39764146 39764146 single base substitution G C upstream_gene_variant OV-AU 12 39774990 39774990 single base substitution G A intron_variant OV-AU 12 39777327 39777327 single base substitution A G intron_variant OV-AU 12 39781396 39781396 single base substitution C G intron_variant OV-AU 12 39785830 39785830 single base substitution G A intron_variant OV-AU 12 39787954 39787954 single base substitution C T intron_variant OV-AU 12 39806069 39806069 single base substitution C A intron_variant OV-AU 12 39807843 39807843 single base substitution T C intron_variant OV-AU 12 39810740 39810740 single base substitution A T intron_variant OV-AU 12 39817385 39817385 single base substitution C A intron_variant OV-AU 12 39821837 39821837 single base substitution A T intron_variant OV-AU 12 39834449 39834449 single base substitution C G intron_variant OV-US 12 39695437 39695437 single base substitution C A exon_variant OV-US 12 39695437 39695437 single base substitution C A synonymous_variant V1539V 4617G>T OV-US 12 39695437 39695437 single base substitution C A synonymous_variant V1555V 4665G>T OV-US 12 39695437 39695437 single base substitution C A synonymous_variant V1579V 4737G>T OV-US 12 39695437 39695437 single base substitution C A synonymous_variant V1592V 4776G>T OV-US 12 39695437 39695437 single base substitution C A synonymous_variant V1593V 4779G>T OV-US 12 39695437 39695437 single base substitution C A synonymous_variant V573V 1719G>T OV-US 12 39695437 39695437 single base substitution C A synonymous_variant V892V 2676G>T OV-US 12 39703478 39703478 single base substitution C T downstream_gene_variant OV-US 12 39703478 39703478 single base substitution C T exon_variant OV-US 12 39703478 39703478 single base substitution C T missense_variant C1343Y 4028G>A OV-US 12 39703478 39703478 single base substitution C T missense_variant C1359Y 4076G>A OV-US 12 39703478 39703478 single base substitution C T missense_variant C1383Y 4148G>A OV-US 12 39703478 39703478 single base substitution C T missense_variant C1396Y 4187G>A OV-US 12 39703478 39703478 single base substitution C T missense_variant C1397Y 4190G>A OV-US 12 39703478 39703478 single base substitution C T missense_variant C377Y 1130G>A OV-US 12 39703478 39703478 single base substitution C T missense_variant C696Y 2087G>A OV-US 12 39726178 39726178 single base substitution T C downstream_gene_variant OV-US 12 39726178 39726178 single base substitution T C exon_variant OV-US 12 39726178 39726178 single base substitution T C synonymous_variant K11K 33A>G OV-US 12 39726178 39726178 single base substitution T C synonymous_variant K310K 930A>G OV-US 12 39726178 39726178 single base substitution T C synonymous_variant K927K 2781A>G OV-US 12 39726178 39726178 single base substitution T C synonymous_variant K950K 2850A>G OV-US 12 39726178 39726178 single base substitution T C synonymous_variant K963K 2889A>G OV-US 12 39726178 39726178 single base substitution T C upstream_gene_variant PACA-AU 12 39682754 39682754 single base substitution C T downstream_gene_variant PACA-AU 12 39683109 39683109 single base substitution A C downstream_gene_variant PACA-AU 12 39683196 39683196 single base substitution G C downstream_gene_variant PACA-AU 12 39684129 39684129 single base substitution G A downstream_gene_variant PACA-AU 12 39687921 39687921 single base substitution T A 3_prime_UTR_variant PACA-AU 12 39687921 39687921 single base substitution T A downstream_gene_variant PACA-AU 12 39687921 39687921 single base substitution T A exon_variant PACA-AU 12 39690893 39690893 single base substitution A C intron_variant PACA-AU 12 39692426 39692426 single base substitution T C intron_variant PACA-AU 12 39697244 39697244 single base substitution G A intron_variant PACA-AU 12 39701873 39701873 single base substitution A T downstream_gene_variant PACA-AU 12 39701873 39701873 single base substitution A T intron_variant PACA-AU 12 39718666 39718666 single base substitution T C intron_variant PACA-AU 12 39718666 39718666 single base substitution T C upstream_gene_variant PACA-AU 12 39724444 39724444 single base substitution A G downstream_gene_variant PACA-AU 12 39724444 39724444 single base substitution A G intron_variant PACA-AU 12 39727016 39727016 single base substitution C T intron_variant PACA-AU 12 39727016 39727016 single base substitution C T missense_variant E176K 526G>A PACA-AU 12 39727016 39727016 single base substitution C T missense_variant E816K 2446G>A PACA-AU 12 39727016 39727016 single base substitution C T missense_variant E829K 2485G>A PACA-AU 12 39727016 39727016 single base substitution C T splice_region_variant PACA-AU 12 39727016 39727016 single base substitution C T upstream_gene_variant PACA-AU 12 39732389 39732389 single base substitution T A intron_variant PACA-AU 12 39732389 39732389 single base substitution T A upstream_gene_variant PACA-AU 12 39732721 39732721 insertion of <=200bp - A intron_variant PACA-AU 12 39732721 39732721 insertion of <=200bp - A upstream_gene_variant PACA-AU 12 39733388 39733388 single base substitution A G intron_variant PACA-AU 12 39733388 39733388 single base substitution A G upstream_gene_variant PACA-AU 12 39734195 39734195 deletion of <=200bp T - intron_variant PACA-AU 12 39734195 39734195 deletion of <=200bp T - upstream_gene_variant PACA-AU 12 39738277 39738277 single base substitution T C intron_variant PACA-AU 12 39738277 39738277 single base substitution T C upstream_gene_variant PACA-AU 12 39743302 39743302 single base substitution A C intron_variant PACA-AU 12 39745235 39745235 single base substitution G T intron_variant PACA-AU 12 39754625 39754625 single base substitution A C intron_variant PACA-AU 12 39754625 39754625 single base substitution A C upstream_gene_variant PACA-AU 12 39755103 39755103 single base substitution G A intron_variant PACA-AU 12 39755103 39755103 single base substitution G A upstream_gene_variant PACA-AU 12 39755510 39755510 single base substitution G A intron_variant PACA-AU 12 39755510 39755510 single base substitution G A upstream_gene_variant PACA-AU 12 39760893 39760893 single base substitution C T missense_variant R225H 674G>A PACA-AU 12 39760893 39760893 single base substitution C T missense_variant R48H 143G>A PACA-AU 12 39765570 39765570 insertion of <=200bp - A intron_variant PACA-AU 12 39765570 39765570 insertion of <=200bp - A upstream_gene_variant PACA-AU 12 39765582 39765582 single base substitution A G intron_variant PACA-AU 12 39765582 39765582 single base substitution A G upstream_gene_variant PACA-AU 12 39766737 39766737 single base substitution T A intron_variant PACA-AU 12 39769420 39769420 deletion of <=200bp G - intron_variant PACA-AU 12 39782985 39782985 single base substitution C T intron_variant PACA-AU 12 39785830 39785830 single base substitution G A intron_variant PACA-AU 12 39787805 39787805 single base substitution T C intron_variant PACA-AU 12 39790283 39790283 single base substitution G A intron_variant PACA-AU 12 39794824 39794824 single base substitution T C intron_variant PACA-AU 12 39798049 39798049 single base substitution C T intron_variant PACA-AU 12 39800010 39800010 single base substitution A G intron_variant PACA-AU 12 39801621 39801621 insertion of <=200bp - A intron_variant PACA-AU 12 39807257 39807257 single base substitution C A intron_variant PACA-AU 12 39807835 39807835 single base substitution T C intron_variant PACA-AU 12 39810569 39810569 single base substitution A G intron_variant PACA-AU 12 39816816 39816816 single base substitution C A intron_variant PACA-AU 12 39825115 39825115 single base substitution C A intron_variant PACA-AU 12 39830884 39830884 single base substitution C G intron_variant PACA-AU 12 39831728 39831728 deletion of <=200bp G - intron_variant PACA-AU 12 39839444 39839444 single base substitution C A upstream_gene_variant PACA-AU 12 39839671 39839671 single base substitution C T upstream_gene_variant PACA-CA 12 39683727 39683727 single base substitution C T downstream_gene_variant PACA-CA 12 39703899 39703899 single base substitution C T intron_variant PACA-CA 12 39705175 39705175 single base substitution A T intron_variant PACA-CA 12 39706616 39706616 single base substitution A G exon_variant PACA-CA 12 39706616 39706616 single base substitution A G intron_variant PACA-CA 12 39706933 39706933 single base substitution T A intron_variant PACA-CA 12 39706933 39706933 single base substitution T A upstream_gene_variant PACA-CA 12 39707642 39707642 single base substitution A G intron_variant PACA-CA 12 39707642 39707642 single base substitution A G upstream_gene_variant PACA-CA 12 39708308 39708308 single base substitution A T intron_variant PACA-CA 12 39708308 39708308 single base substitution A T upstream_gene_variant PACA-CA 12 39709311 39709311 single base substitution A C downstream_gene_variant PACA-CA 12 39709311 39709311 single base substitution A C intron_variant PACA-CA 12 39709311 39709311 single base substitution A C upstream_gene_variant PACA-CA 12 39709535 39709535 deletion of <=200bp A - downstream_gene_variant PACA-CA 12 39709535 39709535 deletion of <=200bp A - intron_variant PACA-CA 12 39709535 39709535 deletion of <=200bp A - upstream_gene_variant PACA-CA 12 39711172 39711172 single base substitution A T downstream_gene_variant PACA-CA 12 39711172 39711172 single base substitution A T intron_variant PACA-CA 12 39711172 39711172 single base substitution A T upstream_gene_variant PACA-CA 12 39716024 39716024 single base substitution C T 3_prime_UTR_variant PACA-CA 12 39716024 39716024 single base substitution C T intron_variant PACA-CA 12 39716024 39716024 single base substitution C T upstream_gene_variant PACA-CA 12 39722070 39722070 insertion of <=200bp - C downstream_gene_variant PACA-CA 12 39722070 39722070 insertion of <=200bp - C intron_variant PACA-CA 12 39723384 39723384 single base substitution C T downstream_gene_variant PACA-CA 12 39723384 39723384 single base substitution C T intron_variant PACA-CA 12 39724223 39724223 single base substitution C T downstream_gene_variant PACA-CA 12 39724223 39724223 single base substitution C T intron_variant PACA-CA 12 39725014 39725014 deletion of <=200bp G - downstream_gene_variant PACA-CA 12 39725014 39725014 deletion of <=200bp G - intron_variant PACA-CA 12 39726275 39726275 insertion of <=200bp - CC downstream_gene_variant PACA-CA 12 39726275 39726275 insertion of <=200bp - CC intron_variant PACA-CA 12 39726275 39726275 insertion of <=200bp - CC upstream_gene_variant PACA-CA 12 39728989 39728989 single base substitution G A intron_variant PACA-CA 12 39728989 39728989 single base substitution G A upstream_gene_variant PACA-CA 12 39734935 39734935 single base substitution G A intron_variant PACA-CA 12 39734935 39734935 single base substitution G A upstream_gene_variant PACA-CA 12 39735167 39735167 single base substitution A G intron_variant PACA-CA 12 39735167 39735167 single base substitution A G upstream_gene_variant PACA-CA 12 39740232 39740232 single base substitution C T intron_variant PACA-CA 12 39741048 39741048 single base substitution A G intron_variant PACA-CA 12 39743794 39743794 single base substitution A G intron_variant PACA-CA 12 39749743 39749743 single base substitution G A downstream_gene_variant PACA-CA 12 39749743 39749743 single base substitution G A intron_variant PACA-CA 12 39750009 39750009 single base substitution C A downstream_gene_variant PACA-CA 12 39750009 39750009 single base substitution C A intron_variant PACA-CA 12 39751345 39751345 single base substitution T A intron_variant PACA-CA 12 39751345 39751345 single base substitution T A upstream_gene_variant PACA-CA 12 39751799 39751799 single base substitution A G intron_variant PACA-CA 12 39751799 39751799 single base substitution A G upstream_gene_variant PACA-CA 12 39753851 39753851 single base substitution T A intron_variant PACA-CA 12 39753851 39753851 single base substitution T A upstream_gene_variant PACA-CA 12 39754012 39754012 deletion of <=200bp A - intron_variant PACA-CA 12 39754012 39754012 deletion of <=200bp A - upstream_gene_variant PACA-CA 12 39756878 39756878 single base substitution G A intron_variant PACA-CA 12 39757805 39757805 single base substitution G A intron_variant PACA-CA 12 39758512 39758512 single base substitution C G intron_variant PACA-CA 12 39761717 39761717 single base substitution C T missense_variant V190I 568G>A PACA-CA 12 39761717 39761717 single base substitution C T missense_variant V5I 13G>A PACA-CA 12 39762210 39762210 single base substitution A G intron_variant PACA-CA 12 39762210 39762210 single base substitution A G upstream_gene_variant PACA-CA 12 39763264 39763264 deletion of <=200bp A - intron_variant PACA-CA 12 39763264 39763264 deletion of <=200bp A - upstream_gene_variant PACA-CA 12 39770579 39770579 single base substitution C T intron_variant PACA-CA 12 39772576 39772576 single base substitution G A intron_variant PACA-CA 12 39774229 39774229 single base substitution A T intron_variant PACA-CA 12 39777129 39777129 single base substitution C T intron_variant PACA-CA 12 39780788 39780805 deletion of <=200bp ACTGTCATTGATTAAGAC - intron_variant PACA-CA 12 39781603 39781603 single base substitution G A intron_variant PACA-CA 12 39783013 39783013 single base substitution C T intron_variant PACA-CA 12 39783396 39783396 single base substitution G T intron_variant PACA-CA 12 39783639 39783639 single base substitution C T intron_variant PACA-CA 12 39785110 39785110 single base substitution T A intron_variant PACA-CA 12 39787945 39787945 single base substitution A G intron_variant PACA-CA 12 39795738 39795738 single base substitution A G intron_variant PACA-CA 12 39799716 39799716 single base substitution A G intron_variant PACA-CA 12 39799900 39799900 single base substitution G C intron_variant PACA-CA 12 39802627 39802627 single base substitution T G intron_variant PACA-CA 12 39802628 39802628 single base substitution G T intron_variant PACA-CA 12 39806237 39806237 single base substitution G A intron_variant PACA-CA 12 39806627 39806627 single base substitution C T intron_variant PACA-CA 12 39807481 39807481 single base substitution G A intron_variant PACA-CA 12 39812319 39812319 single base substitution A G intron_variant PACA-CA 12 39818396 39818396 insertion of <=200bp - A intron_variant PACA-CA 12 39820140 39820140 single base substitution C T intron_variant PACA-CA 12 39821527 39821527 single base substitution C A intron_variant PACA-CA 12 39823602 39823602 single base substitution T C intron_variant PACA-CA 12 39825324 39825324 single base substitution G C intron_variant PACA-CA 12 39828631 39828631 single base substitution A G intron_variant PACA-CA 12 39832928 39832928 insertion of <=200bp - TA intron_variant PACA-CA 12 39838354 39838354 single base substitution G T upstream_gene_variant PACA-CA 12 39838497 39838497 single base substitution G T upstream_gene_variant PACA-CA 12 39842169 39842169 single base substitution G A upstream_gene_variant PAEN-AU 12 39708729 39708729 single base substitution T C intron_variant PAEN-AU 12 39708729 39708729 single base substitution T C upstream_gene_variant PAEN-AU 12 39732845 39732845 single base substitution T A intron_variant PAEN-AU 12 39732845 39732845 single base substitution T A upstream_gene_variant PAEN-AU 12 39743615 39743615 single base substitution G A intron_variant PAEN-AU 12 39743616 39743616 single base substitution T G intron_variant PAEN-AU 12 39755390 39755390 insertion of <=200bp - CTCCGCTCACTGCAAG intron_variant PAEN-AU 12 39755390 39755390 insertion of <=200bp - CTCCGCTCACTGCAAG upstream_gene_variant PAEN-IT 12 39699498 39699498 single base substitution G T downstream_gene_variant PAEN-IT 12 39699498 39699498 single base substitution G T intron_variant PAEN-IT 12 39748534 39748534 single base substitution C T downstream_gene_variant PAEN-IT 12 39748534 39748534 single base substitution C T intron_variant PAEN-IT 12 39763211 39763211 single base substitution G A intron_variant PAEN-IT 12 39763211 39763211 single base substitution G A upstream_gene_variant PAEN-IT 12 39835124 39835124 single base substitution G T intron_variant PAEN-IT 12 39838695 39838695 single base substitution C A upstream_gene_variant PBCA-DE 12 39690147 39690147 single base substitution A C intron_variant PBCA-DE 12 39701816 39701816 single base substitution T C downstream_gene_variant PBCA-DE 12 39701816 39701816 single base substitution T C intron_variant PBCA-DE 12 39703100 39703100 single base substitution T C downstream_gene_variant PBCA-DE 12 39703100 39703100 single base substitution T C intron_variant PBCA-DE 12 39704412 39704412 single base substitution T A intron_variant PBCA-DE 12 39710923 39710923 single base substitution A G downstream_gene_variant PBCA-DE 12 39710923 39710923 single base substitution A G intron_variant PBCA-DE 12 39710923 39710923 single base substitution A G upstream_gene_variant PBCA-DE 12 39728012 39728012 single base substitution A G intron_variant PBCA-DE 12 39728012 39728012 single base substitution A G upstream_gene_variant PBCA-DE 12 39729244 39729244 single base substitution C A intron_variant PBCA-DE 12 39729244 39729244 single base substitution C A upstream_gene_variant PBCA-DE 12 39736269 39736269 single base substitution A G intron_variant PBCA-DE 12 39736269 39736269 single base substitution A G upstream_gene_variant PBCA-DE 12 39739647 39739647 insertion of <=200bp - A intron_variant PBCA-DE 12 39739647 39739647 insertion of <=200bp - A upstream_gene_variant PBCA-DE 12 39750256 39750256 single base substitution T A downstream_gene_variant PBCA-DE 12 39750256 39750256 single base substitution T A intron_variant PBCA-DE 12 39761290 39761290 single base substitution C T intron_variant PBCA-DE 12 39767592 39767592 single base substitution C A intron_variant PBCA-DE 12 39773772 39773772 single base substitution T A intron_variant PBCA-DE 12 39776565 39776565 single base substitution A T intron_variant PBCA-DE 12 39782982 39782983 deletion of <=200bp AC - intron_variant PBCA-DE 12 39799799 39799799 single base substitution C T intron_variant PBCA-DE 12 39807589 39807589 single base substitution A G intron_variant PBCA-DE 12 39809987 39809987 single base substitution G C intron_variant PBCA-DE 12 39810405 39810406 deletion of <=200bp AT - intron_variant PBCA-DE 12 39810553 39810553 single base substitution A G intron_variant PBCA-DE 12 39810561 39810561 single base substitution A G intron_variant PBCA-DE 12 39810572 39810572 single base substitution T G intron_variant PBCA-DE 12 39812819 39812819 single base substitution T A intron_variant PBCA-DE 12 39820341 39820341 single base substitution T A intron_variant PBCA-DE 12 39838528 39838528 single base substitution C T upstream_gene_variant PRAD-CA 12 39688126 39688126 single base substitution C T 3_prime_UTR_variant PRAD-CA 12 39688126 39688126 single base substitution C T downstream_gene_variant PRAD-CA 12 39688126 39688126 single base substitution C T exon_variant PRAD-CA 12 39701143 39701143 single base substitution T C downstream_gene_variant PRAD-CA 12 39701143 39701143 single base substitution T C intron_variant PRAD-CA 12 39713864 39713864 single base substitution A G intron_variant PRAD-CA 12 39725074 39725074 single base substitution T A downstream_gene_variant PRAD-CA 12 39725074 39725074 single base substitution T A intron_variant PRAD-CA 12 39810567 39810567 single base substitution A G intron_variant PRAD-CA 12 39816100 39816100 single base substitution C A intron_variant PRAD-CA 12 39827662 39827662 single base substitution T C intron_variant PRAD-UK 12 39697873 39697873 single base substitution T A intron_variant PRAD-UK 12 39707721 39707721 single base substitution T C intron_variant PRAD-UK 12 39707721 39707721 single base substitution T C upstream_gene_variant PRAD-UK 12 39740318 39740318 single base substitution C T intron_variant PRAD-UK 12 39750478 39750478 single base substitution A T downstream_gene_variant PRAD-UK 12 39750478 39750478 single base substitution A T exon_variant PRAD-UK 12 39750478 39750478 single base substitution A T intron_variant PRAD-UK 12 39763594 39763594 insertion of <=200bp - T frameshift_variant K129K? PRAD-UK 12 39763594 39763594 insertion of <=200bp - T upstream_gene_variant PRAD-UK 12 39763602 39763602 insertion of <=200bp - T frameshift_variant E127E? PRAD-UK 12 39763602 39763602 insertion of <=200bp - T upstream_gene_variant PRAD-UK 12 39764539 39764539 single base substitution T C intron_variant PRAD-UK 12 39764539 39764539 single base substitution T C upstream_gene_variant PRAD-UK 12 39772838 39772838 single base substitution A C intron_variant PRAD-UK 12 39784500 39784500 single base substitution A T intron_variant PRAD-UK 12 39801101 39801101 single base substitution T G intron_variant PRAD-UK 12 39801234 39801234 single base substitution T C intron_variant PRAD-UK 12 39810540 39810567 deletion of <=200bp TATATATATATGTACATATATATGTGTA - intron_variant PRAD-UK 12 39833605 39833605 single base substitution T C intron_variant PRAD-UK 12 39838584 39838584 single base substitution A T upstream_gene_variant PRAD-US 12 39696874 39696874 single base substitution G A exon_variant PRAD-US 12 39696874 39696874 single base substitution G A missense_variant H1489Y 4465C>T PRAD-US 12 39696874 39696874 single base substitution G A missense_variant H1505Y 4513C>T PRAD-US 12 39696874 39696874 single base substitution G A missense_variant H1529Y 4585C>T PRAD-US 12 39696874 39696874 single base substitution G A missense_variant H1542Y 4624C>T PRAD-US 12 39696874 39696874 single base substitution G A missense_variant H1543Y 4627C>T PRAD-US 12 39696874 39696874 single base substitution G A missense_variant H523Y 1567C>T PRAD-US 12 39696874 39696874 single base substitution G A missense_variant H842Y 2524C>T PRAD-US 12 39727024 39727024 single base substitution T C exon_variant PRAD-US 12 39727024 39727024 single base substitution T C intron_variant PRAD-US 12 39727024 39727024 single base substitution T C missense_variant K173R 518A>G PRAD-US 12 39727024 39727024 single base substitution T C missense_variant K813R 2438A>G PRAD-US 12 39727024 39727024 single base substitution T C missense_variant K826R 2477A>G PRAD-US 12 39727024 39727024 single base substitution T C upstream_gene_variant READ-US 12 39701481 39701481 single base substitution C T downstream_gene_variant READ-US 12 39701481 39701481 single base substitution C T exon_variant READ-US 12 39701481 39701481 single base substitution C T missense_variant R1390Q 4169G>A READ-US 12 39701481 39701481 single base substitution C T missense_variant R1406Q 4217G>A READ-US 12 39701481 39701481 single base substitution C T missense_variant R1430Q 4289G>A READ-US 12 39701481 39701481 single base substitution C T missense_variant R1443Q 4328G>A READ-US 12 39701481 39701481 single base substitution C T missense_variant R1444Q 4331G>A READ-US 12 39701481 39701481 single base substitution C T missense_variant R424Q 1271G>A READ-US 12 39701481 39701481 single base substitution C T missense_variant R743Q 2228G>A READ-US 12 39713817 39713817 single base substitution T C splice_acceptor_variant READ-US 12 39724554 39724554 single base substitution A C downstream_gene_variant READ-US 12 39724554 39724554 single base substitution A C exon_variant READ-US 12 39724554 39724554 single base substitution A C missense_variant L1069V 3205T>G READ-US 12 39724554 39724554 single base substitution A C missense_variant L1092V 3274T>G READ-US 12 39724554 39724554 single base substitution A C missense_variant L1105V 3313T>G READ-US 12 39724554 39724554 single base substitution A C missense_variant L126V 376T>G READ-US 12 39724554 39724554 single base substitution A C missense_variant L153V 457T>G READ-US 12 39724554 39724554 single base substitution A C missense_variant L452V 1354T>G READ-US 12 39725513 39725513 single base substitution G T downstream_gene_variant READ-US 12 39725513 39725513 single base substitution G T exon_variant READ-US 12 39725513 39725513 single base substitution G T missense_variant F1008L 3024C>A READ-US 12 39725513 39725513 single base substitution G T missense_variant F1031L 3093C>A READ-US 12 39725513 39725513 single base substitution G T missense_variant F1044L 3132C>A READ-US 12 39725513 39725513 single base substitution G T missense_variant F391L 1173C>A READ-US 12 39725513 39725513 single base substitution G T missense_variant F65L 195C>A READ-US 12 39725513 39725513 single base substitution G T missense_variant F92L 276C>A READ-US 12 39726178 39726178 single base substitution T C downstream_gene_variant READ-US 12 39726178 39726178 single base substitution T C exon_variant READ-US 12 39726178 39726178 single base substitution T C synonymous_variant K11K 33A>G READ-US 12 39726178 39726178 single base substitution T C synonymous_variant K310K 930A>G READ-US 12 39726178 39726178 single base substitution T C synonymous_variant K927K 2781A>G READ-US 12 39726178 39726178 single base substitution T C synonymous_variant K950K 2850A>G READ-US 12 39726178 39726178 single base substitution T C synonymous_variant K963K 2889A>G READ-US 12 39726178 39726178 single base substitution T C upstream_gene_variant READ-US 12 39726183 39726183 single base substitution C A downstream_gene_variant READ-US 12 39726183 39726183 single base substitution C A exon_variant READ-US 12 39726183 39726183 single base substitution C A stop_gained E10* 28G>T READ-US 12 39726183 39726183 single base substitution C A stop_gained E309* 925G>T READ-US 12 39726183 39726183 single base substitution C A stop_gained E926* 2776G>T READ-US 12 39726183 39726183 single base substitution C A stop_gained E949* 2845G>T READ-US 12 39726183 39726183 single base substitution C A stop_gained E962* 2884G>T READ-US 12 39726183 39726183 single base substitution C A upstream_gene_variant READ-US 12 39726186 39726186 single base substitution G A downstream_gene_variant READ-US 12 39726186 39726186 single base substitution G A exon_variant READ-US 12 39726186 39726186 single base substitution G A stop_gained R308* 922C>T READ-US 12 39726186 39726186 single base substitution G A stop_gained R925* 2773C>T READ-US 12 39726186 39726186 single base substitution G A stop_gained R9* 25C>T READ-US 12 39726186 39726186 single base substitution G A stop_gained R948* 2842C>T READ-US 12 39726186 39726186 single base substitution G A stop_gained R961* 2881C>T READ-US 12 39726186 39726186 single base substitution G A upstream_gene_variant RECA-EU 12 39688290 39688290 single base substitution C T exon_variant RECA-EU 12 39688290 39688290 single base substitution C T missense_variant R1601H 4802G>A RECA-EU 12 39688290 39688290 single base substitution C T missense_variant R1617H 4850G>A RECA-EU 12 39688290 39688290 single base substitution C T missense_variant R1641H 4922G>A RECA-EU 12 39688290 39688290 single base substitution C T missense_variant R1654H 4961G>A RECA-EU 12 39688290 39688290 single base substitution C T missense_variant R1655H 4964G>A RECA-EU 12 39688290 39688290 single base substitution C T missense_variant R635H 1904G>A RECA-EU 12 39688290 39688290 single base substitution C T missense_variant R954H 2861G>A RECA-EU 12 39697472 39697472 single base substitution A T intron_variant RECA-EU 12 39724517 39724517 single base substitution A G downstream_gene_variant RECA-EU 12 39724517 39724517 single base substitution A G intron_variant RECA-EU 12 39727468 39727468 single base substitution T C intron_variant RECA-EU 12 39727468 39727468 single base substitution T C upstream_gene_variant RECA-EU 12 39728694 39728694 single base substitution C A intron_variant RECA-EU 12 39728694 39728694 single base substitution C A upstream_gene_variant RECA-EU 12 39731455 39731455 single base substitution C T intron_variant RECA-EU 12 39731455 39731455 single base substitution C T upstream_gene_variant RECA-EU 12 39731493 39731493 single base substitution C T intron_variant RECA-EU 12 39731493 39731493 single base substitution C T upstream_gene_variant RECA-EU 12 39735326 39735326 single base substitution A G synonymous_variant D621D 1863T>C RECA-EU 12 39735326 39735326 single base substitution A G synonymous_variant D634D 1902T>C RECA-EU 12 39735326 39735326 single base substitution A G upstream_gene_variant RECA-EU 12 39742657 39742657 single base substitution A T intron_variant RECA-EU 12 39754359 39754359 single base substitution T G intron_variant RECA-EU 12 39754359 39754359 single base substitution T G upstream_gene_variant RECA-EU 12 39758692 39758692 single base substitution C T intron_variant RECA-EU 12 39781553 39781553 single base substitution T G intron_variant RECA-EU 12 39788242 39788242 single base substitution G C intron_variant RECA-EU 12 39792455 39792455 single base substitution A C intron_variant RECA-EU 12 39797590 39797590 single base substitution C T intron_variant RECA-EU 12 39805036 39805036 single base substitution G A intron_variant RECA-EU 12 39810004 39810004 single base substitution G T intron_variant RECA-EU 12 39816755 39816755 single base substitution C A intron_variant RECA-EU 12 39820974 39820974 single base substitution C G intron_variant RECA-EU 12 39827163 39827163 single base substitution A C intron_variant RECA-EU 12 39827275 39827275 single base substitution A T intron_variant RECA-EU 12 39834752 39834752 single base substitution G A intron_variant RECA-EU 12 39839556 39839556 single base substitution C G upstream_gene_variant SKCA-BR 12 39682203 39682203 single base substitution G A downstream_gene_variant SKCA-BR 12 39682246 39682246 insertion of <=200bp - TAAG downstream_gene_variant SKCA-BR 12 39685279 39685279 single base substitution A T downstream_gene_variant SKCA-BR 12 39685722 39685722 single base substitution G A downstream_gene_variant SKCA-BR 12 39686658 39686658 single base substitution A C downstream_gene_variant SKCA-BR 12 39686662 39686662 single base substitution T C downstream_gene_variant SKCA-BR 12 39686683 39686683 single base substitution A C downstream_gene_variant SKCA-BR 12 39689403 39689403 single base substitution C T intron_variant SKCA-BR 12 39689493 39689493 insertion of <=200bp - TG intron_variant SKCA-BR 12 39689821 39689821 single base substitution G T intron_variant SKCA-BR 12 39689825 39689825 single base substitution G T intron_variant SKCA-BR 12 39696672 39696672 single base substitution G A intron_variant SKCA-BR 12 39702166 39702166 single base substitution G A downstream_gene_variant SKCA-BR 12 39702166 39702166 single base substitution G A intron_variant SKCA-BR 12 39719799 39719799 single base substitution G A downstream_gene_variant SKCA-BR 12 39719799 39719799 single base substitution G A intron_variant SKCA-BR 12 39719799 39719799 single base substitution G A upstream_gene_variant SKCA-BR 12 39720242 39720242 single base substitution T G downstream_gene_variant SKCA-BR 12 39720242 39720242 single base substitution T G intron_variant SKCA-BR 12 39720242 39720242 single base substitution T G upstream_gene_variant SKCA-BR 12 39720834 39720834 single base substitution A C downstream_gene_variant SKCA-BR 12 39720834 39720834 single base substitution A C intron_variant SKCA-BR 12 39723913 39723913 single base substitution C A 3_prime_UTR_variant SKCA-BR 12 39723913 39723913 single base substitution C A downstream_gene_variant SKCA-BR 12 39723913 39723913 single base substitution C A intron_variant SKCA-BR 12 39723927 39723927 single base substitution C A 3_prime_UTR_variant SKCA-BR 12 39723927 39723927 single base substitution C A downstream_gene_variant SKCA-BR 12 39723927 39723927 single base substitution C A intron_variant SKCA-BR 12 39724199 39724199 single base substitution G A downstream_gene_variant SKCA-BR 12 39724199 39724199 single base substitution G A intron_variant SKCA-BR 12 39724476 39724476 single base substitution G A downstream_gene_variant SKCA-BR 12 39724476 39724476 single base substitution G A intron_variant SKCA-BR 12 39725111 39725111 single base substitution G A downstream_gene_variant SKCA-BR 12 39725111 39725111 single base substitution G A intron_variant SKCA-BR 12 39725244 39725244 single base substitution G A downstream_gene_variant SKCA-BR 12 39725244 39725244 single base substitution G A intron_variant SKCA-BR 12 39725245 39725245 single base substitution G A downstream_gene_variant SKCA-BR 12 39725245 39725245 single base substitution G A intron_variant SKCA-BR 12 39726714 39726714 single base substitution G A downstream_gene_variant SKCA-BR 12 39726714 39726714 single base substitution G A exon_variant SKCA-BR 12 39726714 39726714 single base substitution G A missense_variant P242S 724C>T SKCA-BR 12 39726714 39726714 single base substitution G A missense_variant P859S 2575C>T SKCA-BR 12 39726714 39726714 single base substitution G A missense_variant P882S 2644C>T SKCA-BR 12 39726714 39726714 single base substitution G A missense_variant P895S 2683C>T SKCA-BR 12 39726714 39726714 single base substitution G A upstream_gene_variant SKCA-BR 12 39726858 39726858 single base substitution T C exon_variant SKCA-BR 12 39726858 39726858 single base substitution T C missense_variant K194E 580A>G SKCA-BR 12 39726858 39726858 single base substitution T C missense_variant K811E 2431A>G SKCA-BR 12 39726858 39726858 single base substitution T C missense_variant K834E 2500A>G SKCA-BR 12 39726858 39726858 single base substitution T C missense_variant K847E 2539A>G SKCA-BR 12 39726858 39726858 single base substitution T C upstream_gene_variant SKCA-BR 12 39728057 39728057 single base substitution G A intron_variant SKCA-BR 12 39728057 39728057 single base substitution G A upstream_gene_variant SKCA-BR 12 39728512 39728512 single base substitution G A intron_variant SKCA-BR 12 39728512 39728512 single base substitution G A upstream_gene_variant SKCA-BR 12 39728831 39728831 single base substitution G A intron_variant SKCA-BR 12 39728831 39728831 single base substitution G A upstream_gene_variant SKCA-BR 12 39735028 39735028 single base substitution G A intron_variant SKCA-BR 12 39735028 39735028 single base substitution G A upstream_gene_variant SKCA-BR 12 39745230 39745230 single base substitution A T intron_variant SKCA-BR 12 39749754 39749754 single base substitution G A downstream_gene_variant SKCA-BR 12 39749754 39749754 single base substitution G A intron_variant SKCA-BR 12 39750324 39750324 single base substitution G A downstream_gene_variant SKCA-BR 12 39750324 39750324 single base substitution G A intron_variant SKCA-BR 12 39754195 39754195 insertion of <=200bp - AT intron_variant SKCA-BR 12 39754195 39754195 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 12 39754376 39754376 single base substitution G A intron_variant SKCA-BR 12 39754376 39754376 single base substitution G A upstream_gene_variant SKCA-BR 12 39755548 39755548 single base substitution T G intron_variant SKCA-BR 12 39755548 39755548 single base substitution T G upstream_gene_variant SKCA-BR 12 39755582 39755582 single base substitution A C intron_variant SKCA-BR 12 39755582 39755582 single base substitution A C upstream_gene_variant SKCA-BR 12 39756740 39756740 single base substitution C A intron_variant SKCA-BR 12 39756779 39756779 single base substitution G A intron_variant SKCA-BR 12 39758222 39758222 single base substitution G A intron_variant SKCA-BR 12 39758538 39758538 single base substitution C T intron_variant SKCA-BR 12 39763082 39763082 single base substitution G A intron_variant SKCA-BR 12 39763082 39763082 single base substitution G A upstream_gene_variant SKCA-BR 12 39767543 39767543 single base substitution G A intron_variant SKCA-BR 12 39767605 39767605 single base substitution C T intron_variant SKCA-BR 12 39774486 39774486 single base substitution C T intron_variant SKCA-BR 12 39776010 39776010 single base substitution G A intron_variant SKCA-BR 12 39776211 39776211 single base substitution T G intron_variant SKCA-BR 12 39776228 39776228 single base substitution C T intron_variant SKCA-BR 12 39776561 39776561 single base substitution C A intron_variant SKCA-BR 12 39776565 39776565 single base substitution A T intron_variant SKCA-BR 12 39781571 39781571 single base substitution C T intron_variant SKCA-BR 12 39781920 39781920 single base substitution G A intron_variant SKCA-BR 12 39782729 39782729 single base substitution G C intron_variant SKCA-BR 12 39785686 39785686 single base substitution A C intron_variant SKCA-BR 12 39789668 39789668 single base substitution G A intron_variant SKCA-BR 12 39793990 39793990 single base substitution T C intron_variant SKCA-BR 12 39794462 39794462 single base substitution G A intron_variant SKCA-BR 12 39798924 39798924 single base substitution C T intron_variant SKCA-BR 12 39801444 39801444 single base substitution G A intron_variant SKCA-BR 12 39804915 39804915 single base substitution G A intron_variant SKCA-BR 12 39807060 39807060 single base substitution C T intron_variant SKCA-BR 12 39810457 39810457 insertion of <=200bp - ATG intron_variant SKCA-BR 12 39812915 39812915 single base substitution G A intron_variant SKCA-BR 12 39815525 39815527 deletion of <=200bp TTA - intron_variant SKCA-BR 12 39816584 39816584 single base substitution C G intron_variant SKCA-BR 12 39818810 39818810 single base substitution C T intron_variant SKCA-BR 12 39820769 39820769 single base substitution A G intron_variant SKCA-BR 12 39821033 39821033 single base substitution G A intron_variant SKCA-BR 12 39821216 39821216 single base substitution G A intron_variant SKCA-BR 12 39823370 39823370 single base substitution T C intron_variant SKCA-BR 12 39825894 39825894 single base substitution A T intron_variant SKCA-BR 12 39830631 39830631 single base substitution C G intron_variant SKCA-BR 12 39836995 39836995 single base substitution T C 5_prime_UTR_variant SKCA-BR 12 39836995 39836995 single base substitution T C upstream_gene_variant SKCA-BR 12 39839746 39839746 single base substitution G T upstream_gene_variant SKCA-BR 12 39839821 39839821 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 12 39841309 39841309 single base substitution G A upstream_gene_variant SKCM-US 12 39696876 39696876 single base substitution G A exon_variant SKCM-US 12 39696876 39696876 single base substitution G A missense_variant P1488L 4463C>T SKCM-US 12 39696876 39696876 single base substitution G A missense_variant P1504L 4511C>T SKCM-US 12 39696876 39696876 single base substitution G A missense_variant P1528L 4583C>T SKCM-US 12 39696876 39696876 single base substitution G A missense_variant P1541L 4622C>T SKCM-US 12 39696876 39696876 single base substitution G A missense_variant P1542L 4625C>T SKCM-US 12 39696876 39696876 single base substitution G A missense_variant P522L 1565C>T SKCM-US 12 39696876 39696876 single base substitution G A missense_variant P841L 2522C>T SKCM-US 12 39696922 39696922 single base substitution C T exon_variant SKCM-US 12 39696922 39696922 single base substitution C T missense_variant E1473K 4417G>A SKCM-US 12 39696922 39696922 single base substitution C T missense_variant E1489K 4465G>A SKCM-US 12 39696922 39696922 single base substitution C T missense_variant E1513K 4537G>A SKCM-US 12 39696922 39696922 single base substitution C T missense_variant E1526K 4576G>A SKCM-US 12 39696922 39696922 single base substitution C T missense_variant E1527K 4579G>A SKCM-US 12 39696922 39696922 single base substitution C T missense_variant E507K 1519G>A SKCM-US 12 39696922 39696922 single base substitution C T missense_variant E826K 2476G>A SKCM-US 12 39696939 39696939 single base substitution T G splice_acceptor_variant SKCM-US 12 39698727 39698727 single base substitution C T downstream_gene_variant SKCM-US 12 39698727 39698727 single base substitution C T exon_variant SKCM-US 12 39698727 39698727 single base substitution C T missense_variant G1433R 4297G>A SKCM-US 12 39698727 39698727 single base substitution C T missense_variant G1449R 4345G>A SKCM-US 12 39698727 39698727 single base substitution C T missense_variant G1473R 4417G>A SKCM-US 12 39698727 39698727 single base substitution C T missense_variant G1486R 4456G>A SKCM-US 12 39698727 39698727 single base substitution C T missense_variant G1487R 4459G>A SKCM-US 12 39698727 39698727 single base substitution C T missense_variant G467R 1399G>A SKCM-US 12 39698727 39698727 single base substitution C T missense_variant G786R 2356G>A SKCM-US 12 39703441 39703441 single base substitution A G downstream_gene_variant SKCM-US 12 39703441 39703441 single base substitution A G exon_variant SKCM-US 12 39703441 39703441 single base substitution A G synonymous_variant S1355S 4065T>C SKCM-US 12 39703441 39703441 single base substitution A G synonymous_variant S1371S 4113T>C SKCM-US 12 39703441 39703441 single base substitution A G synonymous_variant S1395S 4185T>C SKCM-US 12 39703441 39703441 single base substitution A G synonymous_variant S1408S 4224T>C SKCM-US 12 39703441 39703441 single base substitution A G synonymous_variant S1409S 4227T>C SKCM-US 12 39703441 39703441 single base substitution A G synonymous_variant S389S 1167T>C SKCM-US 12 39703441 39703441 single base substitution A G synonymous_variant S708S 2124T>C SKCM-US 12 39703566 39703566 single base substitution G A missense_variant R1314C 3940C>T SKCM-US 12 39703566 39703566 single base substitution G A missense_variant R1330C 3988C>T SKCM-US 12 39703566 39703566 single base substitution G A missense_variant R1354C 4060C>T SKCM-US 12 39703566 39703566 single base substitution G A missense_variant R1367C 4099C>T SKCM-US 12 39703566 39703566 single base substitution G A missense_variant R1368C 4102C>T SKCM-US 12 39703566 39703566 single base substitution G A missense_variant R348C 1042C>T SKCM-US 12 39703566 39703566 single base substitution G A missense_variant R667C 1999C>T SKCM-US 12 39703566 39703566 single base substitution G A splice_region_variant SKCM-US 12 39709037 39709037 single base substitution G A downstream_gene_variant SKCM-US 12 39709037 39709037 single base substitution G A intron_variant SKCM-US 12 39709037 39709037 single base substitution G A missense_variant S1305F 3914C>T SKCM-US 12 39709037 39709037 single base substitution G A missense_variant S1318F 3953C>T SKCM-US 12 39709037 39709037 single base substitution G A upstream_gene_variant SKCM-US 12 39726502 39726502 single base substitution G A downstream_gene_variant SKCM-US 12 39726502 39726502 single base substitution G A exon_variant SKCM-US 12 39726502 39726502 single base substitution G A missense_variant S263F 788C>T SKCM-US 12 39726502 39726502 single base substitution G A missense_variant S880F 2639C>T SKCM-US 12 39726502 39726502 single base substitution G A missense_variant S903F 2708C>T SKCM-US 12 39726502 39726502 single base substitution G A missense_variant S916F 2747C>T SKCM-US 12 39726502 39726502 single base substitution G A upstream_gene_variant SKCM-US 12 39726695 39726695 single base substitution C T downstream_gene_variant SKCM-US 12 39726695 39726695 single base substitution C T missense_variant R248K 743G>A SKCM-US 12 39726695 39726695 single base substitution C T missense_variant R865K 2594G>A SKCM-US 12 39726695 39726695 single base substitution C T missense_variant R888K 2663G>A SKCM-US 12 39726695 39726695 single base substitution C T missense_variant R901K 2702G>A SKCM-US 12 39726695 39726695 single base substitution C T splice_region_variant SKCM-US 12 39726695 39726695 single base substitution C T upstream_gene_variant SKCM-US 12 39731002 39731002 single base substitution G A exon_variant SKCM-US 12 39731002 39731002 single base substitution G A missense_variant R119C 355C>T SKCM-US 12 39731002 39731002 single base substitution G A missense_variant R759C 2275C>T SKCM-US 12 39731002 39731002 single base substitution G A missense_variant R772C 2314C>T SKCM-US 12 39731002 39731002 single base substitution G A upstream_gene_variant SKCM-US 12 39734154 39734154 single base substitution G A missense_variant S55F 164C>T SKCM-US 12 39734154 39734154 single base substitution G A missense_variant S695F 2084C>T SKCM-US 12 39734154 39734154 single base substitution G A missense_variant S708F 2123C>T SKCM-US 12 39734154 39734154 single base substitution G A upstream_gene_variant SKCM-US 12 39734772 39734772 single base substitution T C synonymous_variant L29L 87A>G SKCM-US 12 39734772 39734772 single base substitution T C synonymous_variant L669L 2007A>G SKCM-US 12 39734772 39734772 single base substitution T C synonymous_variant L682L 2046A>G SKCM-US 12 39734772 39734772 single base substitution T C upstream_gene_variant SKCM-US 12 39752007 39752007 single base substitution A G synonymous_variant L219L 657T>C SKCM-US 12 39752007 39752007 single base substitution A G synonymous_variant L396L 1188T>C SKCM-US 12 39752007 39752007 single base substitution A G upstream_gene_variant SKCM-US 12 39752126 39752126 single base substitution C T missense_variant E180K 538G>A SKCM-US 12 39752126 39752126 single base substitution C T missense_variant E357K 1069G>A SKCM-US 12 39752126 39752126 single base substitution C T upstream_gene_variant SKCM-US 12 39760859 39760859 single base substitution T C synonymous_variant Q236Q 708A>G SKCM-US 12 39760859 39760859 single base substitution T C synonymous_variant Q59Q 177A>G SKCM-US 12 39760883 39760883 single base substitution G A synonymous_variant A228A 684C>T SKCM-US 12 39760883 39760883 single base substitution G A synonymous_variant A51A 153C>T SKCM-US 12 39760928 39760928 single base substitution T C synonymous_variant T213T 639A>G SKCM-US 12 39760928 39760928 single base substitution T C synonymous_variant T36T 108A>G SKCM-US 12 39760939 39760939 single base substitution A G synonymous_variant L210L 628T>C SKCM-US 12 39760939 39760939 single base substitution A G synonymous_variant L33L 97T>C SKCM-US 12 39760948 39760948 single base substitution A C missense_variant L207V 619T>G SKCM-US 12 39760948 39760948 single base substitution A C missense_variant L30V 88T>G SKCM-US 12 39761753 39761753 single base substitution G A missense_variant H178Y 532C>T SKCM-US 12 39761753 39761753 single base substitution G A upstream_gene_variant STAD-US 12 39695397 39695397 single base substitution C A exon_variant STAD-US 12 39695397 39695397 single base substitution C A missense_variant G1553C 4657G>T STAD-US 12 39695397 39695397 single base substitution C A missense_variant G1569C 4705G>T STAD-US 12 39695397 39695397 single base substitution C A missense_variant G1593C 4777G>T STAD-US 12 39695397 39695397 single base substitution C A missense_variant G1606C 4816G>T STAD-US 12 39695397 39695397 single base substitution C A missense_variant G1607C 4819G>T STAD-US 12 39695397 39695397 single base substitution C A missense_variant G587C 1759G>T STAD-US 12 39695397 39695397 single base substitution C A missense_variant G906C 2716G>T STAD-US 12 39703510 39703510 single base substitution A G downstream_gene_variant STAD-US 12 39703510 39703510 single base substitution A G exon_variant STAD-US 12 39703510 39703510 single base substitution A G synonymous_variant G1332G 3996T>C STAD-US 12 39703510 39703510 single base substitution A G synonymous_variant G1348G 4044T>C STAD-US 12 39703510 39703510 single base substitution A G synonymous_variant G1372G 4116T>C STAD-US 12 39703510 39703510 single base substitution A G synonymous_variant G1385G 4155T>C STAD-US 12 39703510 39703510 single base substitution A G synonymous_variant G1386G 4158T>C STAD-US 12 39703510 39703510 single base substitution A G synonymous_variant G366G 1098T>C STAD-US 12 39703510 39703510 single base substitution A G synonymous_variant G685G 2055T>C STAD-US 12 39703566 39703566 single base substitution G A missense_variant R1314C 3940C>T STAD-US 12 39703566 39703566 single base substitution G A missense_variant R1330C 3988C>T STAD-US 12 39703566 39703566 single base substitution G A missense_variant R1354C 4060C>T STAD-US 12 39703566 39703566 single base substitution G A missense_variant R1367C 4099C>T STAD-US 12 39703566 39703566 single base substitution G A missense_variant R1368C 4102C>T STAD-US 12 39703566 39703566 single base substitution G A missense_variant R348C 1042C>T STAD-US 12 39703566 39703566 single base substitution G A missense_variant R667C 1999C>T STAD-US 12 39703566 39703566 single base substitution G A splice_region_variant STAD-US 12 39705250 39705250 single base substitution A G exon_variant STAD-US 12 39705250 39705250 single base substitution A G synonymous_variant S1302S 3906T>C STAD-US 12 39705250 39705250 single base substitution A G synonymous_variant S1318S 3954T>C STAD-US 12 39705250 39705250 single base substitution A G synonymous_variant S1342S 4026T>C STAD-US 12 39705250 39705250 single base substitution A G synonymous_variant S1355S 4065T>C STAD-US 12 39705250 39705250 single base substitution A G synonymous_variant S1356S 4068T>C STAD-US 12 39705250 39705250 single base substitution A G synonymous_variant S336S 1008T>C STAD-US 12 39705250 39705250 single base substitution A G synonymous_variant S655S 1965T>C STAD-US 12 39716468 39716468 single base substitution A G exon_variant STAD-US 12 39716468 39716468 single base substitution A G intron_variant STAD-US 12 39716468 39716468 single base substitution A G splice_donor_variant STAD-US 12 39716468 39716468 single base substitution A G upstream_gene_variant STAD-US 12 39716590 39716590 single base substitution C T exon_variant STAD-US 12 39716590 39716590 single base substitution C T intron_variant STAD-US 12 39716590 39716590 single base substitution C T missense_variant G1148D 3443G>A STAD-US 12 39716590 39716590 single base substitution C T missense_variant G1164D 3491G>A STAD-US 12 39716590 39716590 single base substitution C T missense_variant G1171D 3512G>A STAD-US 12 39716590 39716590 single base substitution C T missense_variant G1184D 3551G>A STAD-US 12 39716590 39716590 single base substitution C T missense_variant G225D 674G>A STAD-US 12 39716590 39716590 single base substitution C T missense_variant G531D 1592G>A STAD-US 12 39716590 39716590 single base substitution C T upstream_gene_variant STAD-US 12 39726475 39726475 single base substitution A C downstream_gene_variant STAD-US 12 39726475 39726475 single base substitution A C exon_variant STAD-US 12 39726475 39726475 single base substitution A C missense_variant L272R 815T>G STAD-US 12 39726475 39726475 single base substitution A C missense_variant L889R 2666T>G STAD-US 12 39726475 39726475 single base substitution A C missense_variant L912R 2735T>G STAD-US 12 39726475 39726475 single base substitution A C missense_variant L925R 2774T>G STAD-US 12 39726475 39726475 single base substitution A C upstream_gene_variant STAD-US 12 39726490 39726490 single base substitution C T downstream_gene_variant STAD-US 12 39726490 39726490 single base substitution C T exon_variant STAD-US 12 39726490 39726490 single base substitution C T missense_variant R267H 800G>A STAD-US 12 39726490 39726490 single base substitution C T missense_variant R884H 2651G>A STAD-US 12 39726490 39726490 single base substitution C T missense_variant R907H 2720G>A STAD-US 12 39726490 39726490 single base substitution C T missense_variant R920H 2759G>A STAD-US 12 39726490 39726490 single base substitution C T upstream_gene_variant STAD-US 12 39726737 39726737 single base substitution G A downstream_gene_variant STAD-US 12 39726737 39726737 single base substitution G A exon_variant STAD-US 12 39726737 39726737 single base substitution G A missense_variant A234V 701C>T STAD-US 12 39726737 39726737 single base substitution G A missense_variant A851V 2552C>T STAD-US 12 39726737 39726737 single base substitution G A missense_variant A874V 2621C>T STAD-US 12 39726737 39726737 single base substitution G A missense_variant A887V 2660C>T STAD-US 12 39726737 39726737 single base substitution G A upstream_gene_variant STAD-US 12 39727030 39727030 single base substitution C T exon_variant STAD-US 12 39727030 39727030 single base substitution C T intron_variant STAD-US 12 39727030 39727030 single base substitution C T missense_variant R171H 512G>A STAD-US 12 39727030 39727030 single base substitution C T missense_variant R811H 2432G>A STAD-US 12 39727030 39727030 single base substitution C T missense_variant R824H 2471G>A STAD-US 12 39727030 39727030 single base substitution C T upstream_gene_variant STAD-US 12 39733972 39733972 deletion of <=200bp T - exon_variant STAD-US 12 39733972 39733972 deletion of <=200bp T - frameshift_variant T116 STAD-US 12 39733972 39733972 deletion of <=200bp T - frameshift_variant T756 STAD-US 12 39733972 39733972 deletion of <=200bp T - frameshift_variant T769 STAD-US 12 39733972 39733972 deletion of <=200bp T - upstream_gene_variant STAD-US 12 39734129 39734129 deletion of <=200bp T - frameshift_variant K63 STAD-US 12 39734129 39734129 deletion of <=200bp T - frameshift_variant K703 STAD-US 12 39734129 39734129 deletion of <=200bp T - frameshift_variant K716 STAD-US 12 39734129 39734129 deletion of <=200bp T - upstream_gene_variant STAD-US 12 39735371 39735371 single base substitution C T synonymous_variant E606E 1818G>A STAD-US 12 39735371 39735371 single base substitution C T synonymous_variant E619E 1857G>A STAD-US 12 39735371 39735371 single base substitution C T upstream_gene_variant STAD-US 12 39735929 39735929 deletion of <=200bp A - splice_region_variant STAD-US 12 39735929 39735929 deletion of <=200bp A - upstream_gene_variant STAD-US 12 39745735 39745735 deletion of <=200bp T - downstream_gene_variant STAD-US 12 39745735 39745735 deletion of <=200bp T - frameshift_variant N506 STAD-US 12 39751199 39751199 single base substitution T A missense_variant N242I 725A>T STAD-US 12 39751199 39751199 single base substitution T A missense_variant N419I 1256A>T STAD-US 12 39751199 39751199 single base substitution T A upstream_gene_variant STAD-US 12 39752103 39752103 single base substitution G A synonymous_variant Y187Y 561C>T STAD-US 12 39752103 39752103 single base substitution G A synonymous_variant Y364Y 1092C>T STAD-US 12 39752103 39752103 single base substitution G A upstream_gene_variant STAD-US 12 39756911 39756911 single base substitution G T synonymous_variant L159L 477C>A STAD-US 12 39756911 39756911 single base substitution G T synonymous_variant L336L 1008C>A STAD-US 12 39763645 39763645 single base substitution A G synonymous_variant G112G 336T>C STAD-US 12 39763645 39763645 single base substitution A G upstream_gene_variant UCEC-US 12 39703541 39703541 single base substitution A G downstream_gene_variant UCEC-US 12 39703541 39703541 single base substitution A G exon_variant UCEC-US 12 39703541 39703541 single base substitution A G missense_variant V1322A 3965T>C UCEC-US 12 39703541 39703541 single base substitution A G missense_variant V1338A 4013T>C UCEC-US 12 39703541 39703541 single base substitution A G missense_variant V1362A 4085T>C UCEC-US 12 39703541 39703541 single base substitution A G missense_variant V1375A 4124T>C UCEC-US 12 39703541 39703541 single base substitution A G missense_variant V1376A 4127T>C UCEC-US 12 39703541 39703541 single base substitution A G missense_variant V356A 1067T>C UCEC-US 12 39703541 39703541 single base substitution A G missense_variant V675A 2024T>C UCEC-US 12 39705269 39705269 single base substitution G A exon_variant UCEC-US 12 39705269 39705269 single base substitution G A missense_variant A1296V 3887C>T UCEC-US 12 39705269 39705269 single base substitution G A missense_variant A1312V 3935C>T UCEC-US 12 39705269 39705269 single base substitution G A missense_variant A1336V 4007C>T UCEC-US 12 39705269 39705269 single base substitution G A missense_variant A1349V 4046C>T UCEC-US 12 39705269 39705269 single base substitution G A missense_variant A1350V 4049C>T UCEC-US 12 39705269 39705269 single base substitution G A missense_variant A330V 989C>T UCEC-US 12 39705269 39705269 single base substitution G A missense_variant A649V 1946C>T UCEC-US 12 39705328 39705328 single base substitution T C exon_variant UCEC-US 12 39705328 39705328 single base substitution T C synonymous_variant S1276S 3828A>G UCEC-US 12 39705328 39705328 single base substitution T C synonymous_variant S1292S 3876A>G UCEC-US 12 39705328 39705328 single base substitution T C synonymous_variant S1316S 3948A>G UCEC-US 12 39705328 39705328 single base substitution T C synonymous_variant S1329S 3987A>G UCEC-US 12 39705328 39705328 single base substitution T C synonymous_variant S1330S 3990A>G UCEC-US 12 39705328 39705328 single base substitution T C synonymous_variant S310S 930A>G UCEC-US 12 39705328 39705328 single base substitution T C synonymous_variant S629S 1887A>G UCEC-US 12 39716651 39716651 single base substitution G A exon_variant UCEC-US 12 39716651 39716651 single base substitution G A intron_variant UCEC-US 12 39716651 39716651 single base substitution G A synonymous_variant L1128L 3382C>T UCEC-US 12 39716651 39716651 single base substitution G A synonymous_variant L1144L 3430C>T UCEC-US 12 39716651 39716651 single base substitution G A synonymous_variant L1151L 3451C>T UCEC-US 12 39716651 39716651 single base substitution G A synonymous_variant L1164L 3490C>T UCEC-US 12 39716651 39716651 single base substitution G A synonymous_variant L205L 613C>T UCEC-US 12 39716651 39716651 single base substitution G A synonymous_variant L511L 1531C>T UCEC-US 12 39716651 39716651 single base substitution G A upstream_gene_variant UCEC-US 12 39724563 39724563 single base substitution C A downstream_gene_variant UCEC-US 12 39724563 39724563 single base substitution C A exon_variant UCEC-US 12 39724563 39724563 single base substitution C A missense_variant G1066C 3196G>T UCEC-US 12 39724563 39724563 single base substitution C A missense_variant G1089C 3265G>T UCEC-US 12 39724563 39724563 single base substitution C A missense_variant G1102C 3304G>T UCEC-US 12 39724563 39724563 single base substitution C A missense_variant G123C 367G>T UCEC-US 12 39724563 39724563 single base substitution C A missense_variant G150C 448G>T UCEC-US 12 39724563 39724563 single base substitution C A missense_variant G449C 1345G>T UCEC-US 12 39726177 39726177 single base substitution G T downstream_gene_variant UCEC-US 12 39726177 39726177 single base substitution G T exon_variant UCEC-US 12 39726177 39726177 single base substitution G T missense_variant L12I 34C>A UCEC-US 12 39726177 39726177 single base substitution G T missense_variant L311I 931C>A UCEC-US 12 39726177 39726177 single base substitution G T missense_variant L928I 2782C>A UCEC-US 12 39726177 39726177 single base substitution G T missense_variant L951I 2851C>A UCEC-US 12 39726177 39726177 single base substitution G T missense_variant L964I 2890C>A UCEC-US 12 39726177 39726177 single base substitution G T upstream_gene_variant UCEC-US 12 39731002 39731002 single base substitution G A exon_variant UCEC-US 12 39731002 39731002 single base substitution G A missense_variant R119C 355C>T UCEC-US 12 39731002 39731002 single base substitution G A missense_variant R759C 2275C>T UCEC-US 12 39731002 39731002 single base substitution G A missense_variant R772C 2314C>T UCEC-US 12 39731002 39731002 single base substitution G A upstream_gene_variant UCEC-US 12 39734163 39734163 single base substitution G A missense_variant S52L 155C>T UCEC-US 12 39734163 39734163 single base substitution G A missense_variant S692L 2075C>T UCEC-US 12 39734163 39734163 single base substitution G A missense_variant S705L 2114C>T UCEC-US 12 39734163 39734163 single base substitution G A upstream_gene_variant UCEC-US 12 39734778 39734778 single base substitution C A missense_variant E27D 81G>T UCEC-US 12 39734778 39734778 single base substitution C A missense_variant E667D 2001G>T UCEC-US 12 39734778 39734778 single base substitution C A missense_variant E680D 2040G>T UCEC-US 12 39734778 39734778 single base substitution C A upstream_gene_variant UCEC-US 12 39734805 39734805 single base substitution C T synonymous_variant L18L 54G>A UCEC-US 12 39734805 39734805 single base substitution C T synonymous_variant L658L 1974G>A UCEC-US 12 39734805 39734805 single base substitution C T synonymous_variant L671L 2013G>A UCEC-US 12 39734805 39734805 single base substitution C T upstream_gene_variant UCEC-US 12 39735860 39735860 single base substitution T G missense_variant E580D 1740A>C UCEC-US 12 39735860 39735860 single base substitution T G missense_variant E593D 1779A>C UCEC-US 12 39735860 39735860 single base substitution T G upstream_gene_variant UCEC-US 12 39735910 39735910 single base substitution C T missense_variant D564N 1690G>A UCEC-US 12 39735910 39735910 single base substitution C T missense_variant D577N 1729G>A UCEC-US 12 39735910 39735910 single base substitution C T upstream_gene_variant UCEC-US 12 39745622 39745622 single base substitution C A downstream_gene_variant UCEC-US 12 39745622 39745622 single base substitution C A missense_variant D544Y 1630G>T UCEC-US 12 39750644 39750644 single base substitution C T downstream_gene_variant UCEC-US 12 39750644 39750644 single base substitution C T exon_variant UCEC-US 12 39750644 39750644 single base substitution C T missense_variant E487K 1459G>A UCEC-US 12 39750650 39750650 single base substitution C A downstream_gene_variant UCEC-US 12 39750650 39750650 single base substitution C A exon_variant UCEC-US 12 39750650 39750650 single base substitution C A stop_gained E485* 1453G>T UCEC-US 12 39751149 39751149 single base substitution G A missense_variant R259C 775C>T UCEC-US 12 39751149 39751149 single base substitution G A missense_variant R436C 1306C>T UCEC-US 12 39751149 39751149 single base substitution G A upstream_gene_variant UCEC-US 12 39752122 39752122 single base substitution G A missense_variant T181M 542C>T UCEC-US 12 39752122 39752122 single base substitution G A missense_variant T358M 1073C>T UCEC-US 12 39752122 39752122 single base substitution G A upstream_gene_variant UCEC-US 12 39756911 39756911 single base substitution G A synonymous_variant L159L 477C>T UCEC-US 12 39756911 39756911 single base substitution G A synonymous_variant L336L 1008C>T UCEC-US 12 39760190 39760190 single base substitution C T missense_variant E112K 334G>A UCEC-US 12 39760190 39760190 single base substitution C T missense_variant E289K 865G>A UCEC-US 12 39760271 39760271 single base substitution C A stop_gained E262* 784G>T UCEC-US 12 39760271 39760271 single base substitution C A stop_gained E85* 253G>T UCEC-US 12 39760882 39760882 single base substitution T C missense_variant I229V 685A>G UCEC-US 12 39760882 39760882 single base substitution T C missense_variant I52V 154A>G UCEC-US 12 39761747 39761747 single base substitution C A missense_variant D180Y 538G>T UCEC-US 12 39761747 39761747 single base substitution C A upstream_gene_variant UCEC-US 12 39761795 39761795 single base substitution G A missense_variant R164C 490C>T UCEC-US 12 39761795 39761795 single base substitution G A upstream_gene_variant UCEC-US 12 39761813 39761813 single base substitution C A missense_variant D158Y 472G>T UCEC-US 12 39761813 39761813 single base substitution C A upstream_gene_variant UCEC-US 12 39763580 39763580 single base substitution T G missense_variant K134T 401A>C UCEC-US 12 39763580 39763580 single base substitution T G upstream_gene_variant UCEC-US 12 39763583 39763583 single base substitution A T missense_variant I133N 398T>A UCEC-US 12 39763583 39763583 single base substitution A T upstream_gene_variant UCEC-US 12 39763932 39763932 single base substitution G C missense_variant S59C 176C>G UCEC-US 12 39763932 39763932 single base substitution G C upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BT-A20J-01 COSM415877 c.2462G>A p.R821H Substitution - Missense 12:39333094-39333094 - TCGA-A6-5665-01 COSM1361317 c.3896_3897insTC p.E1300fs*11 Insertion - Frameshift 12:39315943-39315944 - CSCC-49-T COSM4568132 c.993_994AC>CT p.(=) Unknown 12:39363123-39363124 - ESCC_92 COSM548310 c.1400G>T p.R467I Substitution - Missense 12:39357253-39357253 - TCGA-D3-A2JG-06 COSM3460401 c.708A>G p.Q236Q Substitution - coding silent 12:39367057-39367057 - YUGATOR COSM5375072 c.438C>T p.A146A Substitution - coding silent 12:39369741-39369741 - PT08_2 COSM5893674 c.4544C>T p.A1515V Substitution - Missense 12:39303113-39303113 - TCGA-K4-A3WV-01 COSM3792557 c.852T>C p.T284T Substitution - coding silent 12:39366401-39366401 - TCGA-B9-A44B-01 COSM3986888 c.2629C>G p.Q877E Substitution - Missense 12:39332927-39332927 - TCGA-B5-A0JY-01 COSM305993 c.2075C>T p.S692L Substitution - Missense 12:39340361-39340361 - TCGA-BH-A0HF-01 COSM3811926 c.1181C>T p.T394I Substitution - Missense 12:39358212-39358212 - TCGA-A1-A0SI-01 COSM1476513 c.3623T>C p.I1208T Substitution - Missense 12:39322677-39322677 - 116 COSM5012522 c.1372A>G p.S458G Substitution - Missense 12:39357281-39357281 - TCGA-25-1322-01 COSM81350 c.4737G>T p.V1579V Substitution - coding silent 12:39301635-39301635 - Pat_70_B COSM4696018 c.1821_1823delGGA p.E608delE Deletion - In frame 12:39341564-39341566 - RK087_C01 COSM3700268 c.2209T>G p.S737A Substitution - Missense 12:39340227-39340227 - TCGA-G2-A2EO-01 COSM1299335 c.4178C>G p.S1393* Substitution - Nonsense 12:39309646-39309646 - C0007T COSM4152805 c.1863T>C p.D621D Substitution - coding silent 12:39341524-39341524 - SH-0622 COSM5017345 c.2411_2412insA p.N805fs*11 Insertion - Frameshift 12:39333248-39333249 - TCGA-D3-A51G-06 COSM3460405 c.639A>G p.T213T Substitution - coding silent 12:39367126-39367126 - C0086T COSM4152803 c.4922G>A p.R1641H Substitution - Missense 12:39294488-39294488 - HCT8 COSM4633644 c.2554A>G p.S852G Substitution - Missense 12:39333002-39333002 - TCGA-F4-6856-01 COSM1361319 c.3664delA p.I1222fs*7 Deletion - Frameshift 12:39319982-39319982 - TCGA-FD-A3B5-01 COSM938950 c.538G>T p.D180Y Substitution - Missense 12:39367945-39367945 - S02322 COSM5691190 c.2894G>T p.G965V Substitution - Missense 12:39332332-39332332 - sysucc-1370T COSM5470003 c.1233C>T p.D411D Substitution - coding silent 12:39357420-39357420 - CSCC-37-T COSM4498370 c.518C>T p.S173L Substitution - Missense 12:39367965-39367965 - LUAD-NYU847 COSM376603 c.2178A>T p.Q726H Substitution - Missense 12:39340258-39340258 - SNUH_G45_S1 COSM3676438 c.4729C>G p.L1577V Substitution - Missense 12:39301643-39301643 - TCGA-BM-6198-01 COSM170145 c.2842C>T p.R948* Substitution - Nonsense 12:39332384-39332384 - TCGA-24-1842-01 COSM1322541 c.1843G>A p.E615K Substitution - Missense 12:39341544-39341544 - D2 COSM2065121 c.2643G>A p.T881T Substitution - coding silent 12:39332913-39332913 - TCGA-AG-3892-01 COSM257236 c.2893G>A p.G965R Substitution - Missense 12:39332333-39332333 - TCGA-85-6561-01 COSM693270 c.1308T>A p.R436R Substitution - coding silent 12:39357345-39357345 - T3094 COSM4696008 c.4784delT p.L1595fs*1 Deletion - Frameshift 12:39301588-39301588 - TCGA-D3-A1Q6-06 COSM3460390 c.3914C>T p.S1305F Substitution - Missense 12:39315235-39315235 - TCGA-AD-6964-01 COSM3686056 c.1674-3delT p.? Unknown 12:39342127-39342127 - YUGOE COSM1705387 c.752A>G p.N251S Substitution - Missense 12:39366501-39366501 - YUBER COSM1705377 c.4228C>T p.R1410* Substitution - Nonsense 12:39309596-39309596 - TCGA-GN-A267-06 COSM3460386 c.4417G>A p.G1473R Substitution - Missense 12:39304925-39304925 - 1_RESISTANT COSM1721259 c.2410delA p.R804fs*21 Deletion - Frameshift 12:39333250-39333250 - C086 COSM5533372 c.346C>T p.R116* Substitution - Nonsense 12:39369833-39369833 - PDA_082 COSM5002514 c.1513A>G p.K505E Substitution - Missense 12:39351937-39351937 - SNUH_G76_S1 COSM3998771 c.4729C>T p.L1577L Substitution - coding silent 12:39301643-39301643 - PT35 COSM2065234 c.460G>A p.E154K Substitution - Missense 12:39368023-39368023 - 2328683 COSM938947 c.865G>A p.E289K Substitution - Missense 12:39366388-39366388 - T155 COSM1177175 c.877G>T p.E293* Substitution - Nonsense 12:39366376-39366376 - S02237 COSM5676428 c.4308T>C p.S1436S Substitution - coding silent 12:39307660-39307660 - sysucc-1237T COSM5764495 c.244G>A p.A82T Substitution - Missense 12:39370062-39370062 - CML042T COSM5802860 c.3018A>G p.E1006E Substitution - coding silent 12:39331786-39331786 - TCGA-D1-A103-01 COSM938931 c.4007C>T p.A1336V Substitution - Missense 12:39311467-39311467 - LAU63 COSM232628 c.4562C>T p.P1521L Substitution - Missense 12:39303095-39303095 - TCGA-BP-4343-01 COSM81350 c.4737G>T p.V1579V Substitution - coding silent 12:39301635-39301635 - 428 COSM4433168 c.3364A>G p.T1122A Substitution - Missense 12:39325892-39325892 - MD-281 COSM302487 c.4709A>T p.H1570L Substitution - Missense 12:39301663-39301663 - TCGA-HT-7689-01 COSM3968181 c.545C>G p.T182S Substitution - Missense 12:39367938-39367938 - PA285 COSM1163002 c.2621C>T p.A874V Substitution - Missense 12:39332935-39332935 - SJBALL247_D COSM4994252 c.1287G>C p.Q429H Substitution - Missense 12:39357366-39357366 - TCGA-63-6202-01 COSM693271 c.1806G>T p.E602D Substitution - Missense 12:39341581-39341581 - 387 COSM4427239 c.1020-1G>T p.? Unknown 12:39358374-39358374 - LIM2405 COSM4613318 c.3602delC p.P1201fs*8 Deletion - Frameshift 12:39322698-39322698 - TCGA-AA-3492-01 COSM1361322 c.2204delA p.N735fs*9 Deletion - Frameshift 12:39340232-39340232 - TCGA-DD-A114-01 COSM4925492 c.2643G>C p.T881T Substitution - coding silent 12:39332913-39332913 - TCGA-AX-A0J0-01 COSM938942 c.1459G>A p.E487K Substitution - Missense 12:39356842-39356842 - TCGA-F5-6814-01 COSM3416801 c.4289G>A p.R1430Q Substitution - Missense 12:39307679-39307679 - BCM723T COSM5348188 c.1765-3delT p.? Unknown 12:39341625-39341625 - ESCC_157 COSM5646204 c.2375G>C p.R792T Substitution - Missense 12:39337100-39337100 - PT52 COSM5940284 c.1004C>T p.S335F Substitution - Missense 12:39363113-39363113 - S00833 COSM312337 c.4651G>T p.G1551* Substitution - Nonsense 12:39303006-39303006 - NCI-H209 COSM41532 c.887C>G p.S296C Substitution - Missense 12:39366366-39366366 - SJTALL006 COSM305993 c.2075C>T p.S692L Substitution - Missense 12:39340361-39340361 - TCGA-G4-6588-01 COSM1361330 c.186G>A p.E62E Substitution - coding silent 12:39370120-39370120 - TCGA-ER-A198-06 COSM3460393 c.2663G>A p.R888K Substitution - Missense 12:39332893-39332893 - TCGA-G4-6320-01 COSM3688180 c.806A>T p.K269M Substitution - Missense 12:39366447-39366447 - 24T COSM108456 c.1453G>A p.E485K Substitution - Missense 12:39356848-39356848 - TCGA-EE-A2GM-06 COSM3460397 c.1188T>C p.L396L Substitution - coding silent 12:39358205-39358205 - NB-1243 COSM1285779 c.3792A>T p.P1264P Substitution - coding silent 12:39318150-39318150 - STC291 COSM5051568 c.2254G>T p.E752* Substitution - Nonsense 12:39340182-39340182 - TCGA-BR-6453-01 COSM4041539 c.4026T>C p.S1342S Substitution - coding silent 12:39311448-39311448 - TCGA-CD-8531-01 COSM4041545 c.2735T>G p.L912R Substitution - Missense 12:39332673-39332673 - TCGA-AN-A0AK-01 COSM3811922 c.3057C>T p.C1019C Substitution - coding silent 12:39331747-39331747 - 2492722 COSM938945 c.1073C>T p.T358M Substitution - Missense 12:39358320-39358320 - CHC121T COSM3667151 c.1821G>T p.E607D Substitution - Missense 12:39341566-39341566 - Pat_41_B COSM5840895 c.3485C>T p.T1162I Substitution - Missense 12:39322815-39322815 - TCGA-66-2763-01 COSM693275 c.2578G>T p.A860S Substitution - Missense 12:39332978-39332978 - 587288 COSM1212408 c.2692G>T p.G898C Substitution - Missense 12:39332716-39332716 - LUAD-NYU1051S COSM368548 c.4181C>A p.T1394K Substitution - Missense 12:39309643-39309643 - TCGA-A6-5665-01 COSM1361320 c.3030G>A p.L1010L Substitution - coding silent 12:39331774-39331774 - TCGA-34-5231-01 COSM693277 c.4861G>C p.V1621L Substitution - Missense 12:39301511-39301511 - YUKLAB COSM1705381 c.3157G>A p.E1053K Substitution - Missense 12:39330869-39330869 - TCGA-13-1498-01 COSM75151 c.4148G>A p.C1383Y Substitution - Missense 12:39309676-39309676 - HCC2998 COSM2065178 c.1407T>C p.G469G Substitution - coding silent 12:39356894-39356894 - RK308_C01 COSM3739626 c.900A>G p.G300G Substitution - coding silent 12:39366353-39366353 - LUAD-NYU201 COSM371283 c.2341G>T p.E781* Substitution - Nonsense 12:39337134-39337134 - TCGA-24-2293-01 COSM71339 c.2164C>T p.L722F Substitution - Missense 12:39340272-39340272 - T3079 COSM4696020 c.1730G>A p.G577D Substitution - Missense 12:39342068-39342068 - TCGA-EE-A182-06 COSM3460388 c.4185T>C p.S1395S Substitution - coding silent 12:39309639-39309639 - TCGA-AK-3447-01 COSM1492882 c.904-2A>T p.? Unknown 12:39363215-39363215 - TCGA-HU-A4GX-01 COSM4041541 c.3632+2T>C p.? Unknown 12:39322666-39322666 - 8066488 COSM3772608 c.2446G>A p.E816K Substitution - Missense 12:39333214-39333214 - TCGA-BG-A0M0-01 COSM938955 c.176C>G p.S59C Substitution - Missense 12:39370130-39370130 - TCGA-32-2615-01 COSM3398689 c.2840G>T p.R947I Substitution - Missense 12:39332386-39332386 - C008 COSM5522968 c.4667A>T p.D1556V Substitution - Missense 12:39302990-39302990 - YUBER COSM1705389 c.389A>G p.H130R Substitution - Missense 12:39369790-39369790 - CSCC-62-T COSM4452654 c.1991A>T p.Q664L Substitution - Missense 12:39340986-39340986 - TCGA-A8-A0A6-01 COSM3811924 c.2532A>C p.A844A Substitution - coding silent 12:39333024-39333024 - TCGA-IR-A3LH-01 COSM4833151 c.3543G>C p.E1181D Substitution - Missense 12:39322757-39322757 - TCGA-85-6561-01 COSM693276 c.3519C>A p.L1173L Substitution - coding silent 12:39322781-39322781 - SC_9054 COSM5554706 c.4618G>A p.G1540R Substitution - Missense 12:39303039-39303039 - HT115 COSM2065192 c.1093G>A p.A365T Substitution - Missense 12:39358300-39358300 - TCGA-CK-5916-01 COSM3686056 c.1674-3delT p.? Unknown 12:39342127-39342127 - PT40 COSM5923967 c.2137C>T p.Q713* Substitution - Nonsense 12:39340299-39340299 - CCRF-CEM COSM1676834 c.2695C>T p.R899* Substitution - Nonsense 12:39332713-39332713 - SC_9072 COSM5568905 c.2520T>A p.S840R Substitution - Missense 12:39333036-39333036 - TCGA-G9-6343-01 COSM3671058 c.4585C>T p.H1529Y Substitution - Missense 12:39303072-39303072 - pfg068T COSM4753303 c.4286G>A p.S1429N Substitution - Missense 12:39307682-39307682 - T3535 COSM4696008 c.4784delT p.L1595fs*1 Deletion - Frameshift 12:39301588-39301588 - pfg016T COSM1361329 c.387delA p.K129fs*3 Deletion - Frameshift 12:39369792-39369792 - TCGA-B8-4143-01 COSM468304 c.3495A>G p.G1165G Substitution - coding silent 12:39322805-39322805 - Pat_44_A COSM5840901 c.869G>A p.R290K Substitution - Missense 12:39366384-39366384 - T3724 COSM4696006 c.4960C>A p.L1654M Substitution - Missense 12:39294450-39294450 - TCGA-34-5231-01 COSM693272 c.1974G>T p.L658L Substitution - coding silent 12:39341003-39341003 - TCGA-AP-A056-01 COSM938935 c.2851C>A p.L951I Substitution - Missense 12:39332375-39332375 - 13394 COSM693268 c.945C>G p.S315R Substitution - Missense 12:39363172-39363172 - DLBCL-PatientB COSM220207 c.4898G>A p.R1633Q Substitution - Missense 12:39294512-39294512 - PD8964a COSM5782159 c.308A>T p.D103V Substitution - Missense 12:39369871-39369871 - TCGA-D8-A1JF-01 COSM1476515 c.1931_1932insTTAA p.K644fs*2 Insertion - Frameshift 12:39341045-39341046 - PT33 COSM5909244 c.3214C>T p.H1072Y Substitution - Missense 12:39330812-39330812 - YUKSI COSM5375068 c.964C>T p.P322S Substitution - Missense 12:39363153-39363153 - HCC2998 COSM938936 c.2275C>T p.R759C Substitution - Missense 12:39337200-39337200 - T207 COSM4696010 c.4758G>T p.L1586F Substitution - Missense 12:39301614-39301614 - CHC892T COSM4796505 c.1194G>A p.M398I Substitution - Missense 12:39358199-39358199 - TCGA-D1-A167-01 COSM938945 c.1073C>T p.T358M Substitution - Missense 12:39358320-39358320 - 308_T COSM3954668 c.4262G>C p.G1421A Substitution - Missense 12:39307706-39307706 - TCGA-CG-5721-01 COSM4041537 c.4116T>C p.G1372G Substitution - coding silent 12:39309708-39309708 - LUAD-NYU184 COSM370736 c.4931A>C p.Q1644P Substitution - Missense 12:39294479-39294479 - TCGA-AX-A0J1-01 COSM938938 c.1974G>A p.L658L Substitution - coding silent 12:39341003-39341003 - TCGA-AP-A056-01 COSM938947 c.865G>A p.E289K Substitution - Missense 12:39366388-39366388 - TCGA-A6-6781-01 COSM1361327 c.871G>A p.A291T Substitution - Missense 12:39366382-39366382 - Pa14C COSM84147 c.674G>A p.R225H Substitution - Missense 12:39367091-39367091 - YUKSI COSM5375070 c.764C>T p.S255F Substitution - Missense 12:39366489-39366489 - 2492710 COSM5718413 c.444C>T p.F148F Substitution - coding silent 12:39369735-39369735 - KM12 COSM1676832 c.4200G>T p.W1400C Substitution - Missense 12:39309624-39309624 - LUAD-B01169 COSM391100 c.4404delG p.R1468fs*8 Deletion - Frameshift 12:39304938-39304938 - 2334194 COSM41532 c.887C>G p.S296C Substitution - Missense 12:39366366-39366366 - KM12 COSM1361329 c.387delA p.K129fs*3 Deletion - Frameshift 12:39369792-39369792 - HX34T COSM3704079 c.1471G>T p.A491S Substitution - Missense 12:39351979-39351979 - TCGA-BR-8081-01 COSM4041555 c.1008C>A p.L336L Substitution - coding silent 12:39363109-39363109 - OSCC-GB_01060111 COSM4883141 c.4117C>A p.H1373N Substitution - Missense 12:39309707-39309707 - Pat_50_A COSM4696018 c.1821_1823delGGA p.E608delE Deletion - In frame 12:39341564-39341566 - pfg212T COSM1361324 c.2109delA p.V704fs*12 Deletion - Frameshift 12:39340327-39340327 - 392 COSM4428102 c.3132G>C p.Q1044H Substitution - Missense 12:39330894-39330894 - TCGA-AZ-6598-01 COSM1361325 c.1672delA p.S558fs*29 Deletion - Frameshift 12:39351778-39351778 - TCGA-AA-3663-01 COSM1361321 c.2246A>G p.D749G Substitution - Missense 12:39340190-39340190 - PR-02-1082 COSM187087 c.3291C>T p.S1097S Substitution - coding silent 12:39330252-39330252 - Gp2D COSM1361329 c.387delA p.K129fs*3 Deletion - Frameshift 12:39369792-39369792 - LUAD-5V8LT COSM401337 c.3921-1G>T p.? Unknown 12:39311554-39311554 - PT48 COSM1676841 c.1168C>T p.R390C Substitution - Missense 12:39358225-39358225 - TCGA-AX-A0J0-01 COSM938948 c.784G>T p.E262* Substitution - Nonsense 12:39366469-39366469 - BD175T COSM5507851 c.199C>T p.Q67* Substitution - Nonsense 12:39370107-39370107 - TCGA-13-2059-01 COSM1322540 c.1223G>C p.R408T Substitution - Missense 12:39357430-39357430 - 587298 COSM1212407 c.1907A>T p.N636I Substitution - Missense 12:39341070-39341070 - EGC15 COSM5051570 c.893A>C p.N298T Substitution - Missense 12:39366360-39366360 - Gp2D COSM4627070 c.243T>C p.N81N Substitution - coding silent 12:39370063-39370063 - sysucc-1972T COSM5480343 c.4164G>T p.L1388F Substitution - Missense 12:39309660-39309660 - 202_T COSM3954673 c.1270G>T p.E424* Substitution - Nonsense 12:39357383-39357383 - TCGA-33-6737-01 COSM693269 c.1116G>C p.K372N Substitution - Missense 12:39358277-39358277 - tumor_4113825 COSM5947693 c.4527T>C p.F1509F Substitution - coding silent 12:39303130-39303130 - TCGA-60-2707-01 COSM693268 c.945C>G p.S315R Substitution - Missense 12:39363172-39363172 - MOLT-4 COSM1676828 c.4681G>T p.D1561Y Substitution - Missense 12:39302976-39302976 - PT26 COSM2065129 c.2461C>T p.R821C Substitution - Missense 12:39333095-39333095 - SW948 COSM2065139 c.2343G>A p.E781E Substitution - coding silent 12:39337132-39337132 - 169 COSM1163002 c.2621C>T p.A874V Substitution - Missense 12:39332935-39332935 - S02256 COSM5681213 c.1384A>C p.N462H Substitution - Missense 12:39357269-39357269 - ME024T COSM220207 c.4898G>A p.R1633Q Substitution - Missense 12:39294512-39294512 - SA219 COSM212441 c.2080G>T p.E694* Substitution - Nonsense 12:39340356-39340356 - TCGA-AA-A00N-01 COSM275737 c.1615G>A p.D539N Substitution - Missense 12:39351835-39351835 - TCGA-CZ-4856-01 COSM468308 c.158A>G p.Y53C Substitution - Missense 12:39370148-39370148 - HCC2998 COSM1676830 c.4229G>A p.R1410Q Substitution - Missense 12:39309595-39309595 - CAL27 COSM2065017 c.4555G>A p.V1519M Substitution - Missense 12:39303102-39303102 - TCGA-BR-A4QL-01 COSM2065194 c.1092C>T p.Y364Y Substitution - coding silent 12:39358301-39358301 - 7313 COSM5613538 c.4451G>T p.C1484F Substitution - Missense 12:39304891-39304891 - TCGA-A3-3316-01 COSM1492882 c.904-2A>T p.? Unknown 12:39363215-39363215 - TCGA-BR-8680-01 COSM2065043 c.4060C>T p.R1354C Substitution - Missense 12:39309764-39309764 - TCGA-B8-4143-01 COSM3359712 c.2522C>G p.S841* Substitution - Nonsense 12:39333034-39333034 - TCGA-BR-4184-01 COSM4041543 c.3512G>A p.G1171D Substitution - Missense 12:39322788-39322788 - TCGA-MH-A55Z-01 COSM3986886 c.3905A>G p.H1302R Substitution - Missense 12:39315935-39315935 - TCGA-BP-4782-01 COSM468306 c.2359A>C p.K787Q Substitution - Missense 12:39337116-39337116 - Pat_24_A COSM5840899 c.2465G>A p.R822Q Substitution - Missense 12:39333091-39333091 - TCGA-D1-A16X-01 COSM938945 c.1073C>T p.T358M Substitution - Missense 12:39358320-39358320 - CSCC-18-T COSM4503198 c.633C>T p.S211S Substitution - coding silent 12:39367132-39367132 - TCGA-EE-A2MR-06 COSM3460399 c.1069G>A p.E357K Substitution - Missense 12:39358324-39358324 - TCGA-AX-A0J0-01 COSM938932 c.3948A>G p.S1316S Substitution - coding silent 12:39311526-39311526 - B65-Tumor COSM1746943 c.3670G>A p.E1224K Substitution - Missense 12:39319976-39319976 - TCGA-AP-A0LD-01 COSM938934 c.3265G>T p.G1089C Substitution - Missense 12:39330761-39330761 - T3091 COSM4613318 c.3602delC p.P1201fs*8 Deletion - Frameshift 12:39322698-39322698 - 759_T COSM3954671 c.1860A>G p.S620S Substitution - coding silent 12:39341527-39341527 - TCGA-B5-A11N-01 COSM938953 c.401A>C p.K134T Substitution - Missense 12:39369778-39369778 - PCSI_0083_Pa_X COSM3376233 c.568G>A p.V190I Substitution - Missense 12:39367915-39367915 - TCGA-EE-A2M5-06 COSM3460403 c.684C>T p.A228A Substitution - coding silent 12:39367081-39367081 - TCGA-DK-A3X1-01 COSM3792555 c.1200C>G p.L400L Substitution - coding silent 12:39358193-39358193 - TCGA-DD-A11B-01 COSM4934136 c.4982A>G p.N1661S Substitution - Missense 12:39294428-39294428 - KM12 COSM1676832 c.4200G>T p.W1400C Substitution - Missense 12:39309624-39309624 - CSCC-11-T COSM4492195 c.3892C>T p.L1298F Substitution - Missense 12:39315948-39315948 - TCGA-FG-7636-01 COSM3968183 c.374T>C p.I125T Substitution - Missense 12:39369805-39369805 - 2334191 COSM321238 c.112G>A p.E38K Substitution - Missense 12:39370194-39370194 - TCGA-DK-A1A5-01 COSM415878 c.3854C>T p.S1285L Substitution - Missense 12:39318088-39318088 - 113368 COSM325630 c.1729G>T p.G577C Substitution - Missense 12:39342069-39342069 - TCGA-IR-A3LA-01 COSM4845129 c.2299G>A p.E767K Substitution - Missense 12:39337176-39337176 - ACINAR27 COSM1734419 c.4690C>T p.Q1564* Substitution - Nonsense 12:39302967-39302967 - T3262 COSM4696018 c.1821_1823delGGA p.E608delE Deletion - In frame 12:39341564-39341566 - 2217528 COSM4421680 c.1946A>G p.D649G Substitution - Missense 12:39341031-39341031 - B66 COSM1746945 c.3073C>G p.R1025G Substitution - Missense 12:39331731-39331731 - TCGA-AN-A0AM-01 COSM431054 c.81A>G p.G27G Substitution - coding silent 12:39370225-39370225 - RK219_C01 COSM3739622 c.1024A>G p.T342A Substitution - Missense 12:39358369-39358369 - 2492723 COSM938945 c.1073C>T p.T358M Substitution - Missense 12:39358320-39358320 - TCGA-FG-7636-01 COSM3968185 c.353T>G p.V118G Substitution - Missense 12:39369826-39369826 - GC8_T COSM147471 c.4503C>G p.S1501S Substitution - coding silent 12:39304839-39304839 - YUTEPA COSM1705379 c.3806A>C p.N1269T Substitution - Missense 12:39318136-39318136 - PT08_1 COSM5893674 c.4544C>T p.A1515V Substitution - Missense 12:39303113-39303113 - TCGA-AP-A0LP-01 COSM938933 c.3451C>T p.L1151L Substitution - coding silent 12:39322849-39322849 - HCC2998 COSM938936 c.2275C>T p.R759C Substitution - Missense 12:39337200-39337200 - 116 COSM1741361 c.544A>G p.T182A Substitution - Missense 12:39367939-39367939 - TCGA-AZ-4615-01 COSM1361324 c.2109delA p.V704fs*12 Deletion - Frameshift 12:39340327-39340327 - BD124T COSM5492937 c.4740G>A p.V1580V Substitution - coding silent 12:39301632-39301632 - sysucc-1397T COSM5473374 c.4383C>T p.V1461V Substitution - coding silent 12:39307585-39307585 - TCGA-CG-4474-01 COSM1163002 c.2621C>T p.A874V Substitution - Missense 12:39332935-39332935 - LIM2405 COSM4641705 c.3896C>T p.S1299L Substitution - Missense 12:39315944-39315944 - SNUH_G76_S1 COSM4418859 c.975T>C p.D325D Substitution - coding silent 12:39363142-39363142 - B98-Tumor COSM1746941 c.4030G>C p.D1344H Substitution - Missense 12:39311444-39311444 - 1N61-VS-1T61 COSM4977768 c.3590A>T p.E1197V Substitution - Missense 12:39322710-39322710 - CSCC-20-T COSM4449440 c.2266delA p.T756fs*5 Deletion - Frameshift 12:39340170-39340170 - TCGA-60-2698-01 COSM693274 c.2458C>G p.L820V Substitution - Missense 12:39333098-39333098 - WT025 COSM5351899 c.3115G>C p.G1039R Substitution - Missense 12:39330911-39330911 - TCGA-D1-A174-01 COSM938946 c.1008C>T p.L336L Substitution - coding silent 12:39363109-39363109 - TCGA-FS-A1ZN-01 COSM3460403 c.684C>T p.A228A Substitution - coding silent 12:39367081-39367081 - T20 COSM5342097 c.3996G>A p.G1332G Substitution - coding silent 12:39311478-39311478 - 102 COSM5015095 c.1186C>G p.L396V Substitution - Missense 12:39358207-39358207 - ESCC_139 COSM5643209 c.899G>T p.G300V Substitution - Missense 12:39366354-39366354 - T298 COSM4696022 c.1329A>T p.Q443H Substitution - Missense 12:39357324-39357324 - 2334189 COSM321237 c.4045A>G p.T1349A Substitution - Missense 12:39311429-39311429 - S02344 COSM5693354 c.3970C>T p.L1324F Substitution - Missense 12:39311504-39311504 - ESO-0061 COSM1255817 c.4421A>G p.K1474R Substitution - Missense 12:39304921-39304921 - J74_T COSM3954670 c.3281-1G>T p.? Unknown 12:39330263-39330263 - T3080 COSM4696016 c.3589delG p.E1197fs*12 Deletion - Frameshift 12:39322711-39322711 - 587316 COSM1212403 c.2435G>A p.R812H Substitution - Missense 12:39333225-39333225 - 587350 COSM1212404 c.4556T>C p.V1519A Substitution - Missense 12:39303101-39303101 - TCGA-AZ-4315-01 COSM938936 c.2275C>T p.R759C Substitution - Missense 12:39337200-39337200 - STC297 COSM2065119 c.2743C>T p.R915C Substitution - Missense 12:39332665-39332665 - PCSI_0083_Pa_P COSM3376233 c.568G>A p.V190I Substitution - Missense 12:39367915-39367915 - 2492720 COSM938945 c.1073C>T p.T358M Substitution - Missense 12:39358320-39358320 - TCGA-43-3394-01 COSM693270 c.1308T>A p.R436R Substitution - coding silent 12:39357345-39357345 - RK308_C01 COSM3739624 c.1020-10T>C p.? Unknown 12:39358383-39358383 - 587376 COSM1212406 c.1984A>C p.K662Q Substitution - Missense 12:39340993-39340993 - TCGA-AY-6197-01 COSM1361324 c.2109delA p.V704fs*12 Deletion - Frameshift 12:39340327-39340327 - TCGA-FP-7829-01 COSM4041551 c.1818G>A p.E606E Substitution - coding silent 12:39341569-39341569 - PCSI_0083_Pa_P_526 COSM3376233 c.568G>A p.V190I Substitution - Missense 12:39367915-39367915 - TCGA-AM-5821-01 COSM3688176 c.4254T>C p.V1418V Substitution - coding silent 12:39307714-39307714 - YUCHIME COSM1705385 c.1465C>T p.L489F Substitution - Missense 12:39356836-39356836 - HCT8 COSM4633646 c.690T>C p.F230F Substitution - coding silent 12:39367075-39367075 - cSCCP4 COSM138872 c.3359G>A p.G1120E Substitution - Missense 12:39326267-39326267 - S00943 COSM312338 c.3670G>T p.E1224* Substitution - Nonsense 12:39319976-39319976 - HCC051T COSM5820678 c.1822G>A p.E608K Substitution - Missense 12:39341565-39341565 - TCGA-AA-A010-01 COSM299283 c.45-7C>A p.? Unknown 12:39370268-39370268 - LIM1215 COSM4334429 c.876delA p.E293fs*15 Deletion - Frameshift 12:39366377-39366377 - tumor_4108992 COSM5949727 c.1515A>G p.K505K Substitution - coding silent 12:39351935-39351935 - TCGA-EI-6917-01 COSM3416803 c.3274T>G p.L1092V Substitution - Missense 12:39330752-39330752 - TCGA-A6-6780-01 COSM1361318 c.3802C>T p.R1268C Substitution - Missense 12:39318140-39318140 - TCGA-B5-A0JY-01 COSM938937 c.2001G>T p.E667D Substitution - Missense 12:39340976-39340976 - TCGA-AX-A05Z-01 COSM938937 c.2001G>T p.E667D Substitution - Missense 12:39340976-39340976 - LS411 COSM2065119 c.2743C>T p.R915C Substitution - Missense 12:39332665-39332665 - 631092 COSM325631 c.4036C>G p.L1346V Substitution - Missense 12:39311438-39311438 - TCGA-DK-A3X1-01 COSM2065129 c.2461C>T p.R821C Substitution - Missense 12:39333095-39333095 - PT19_2 COSM1361315 c.4288C>T p.R1430* Substitution - Nonsense 12:39307680-39307680 - CN-AML-CR-10-Dx COSM1361328 c.578G>A p.R193H Substitution - Missense 12:39367905-39367905 - TCGA-AP-A056-01 COSM938943 c.1453G>T p.E485* Substitution - Nonsense 12:39356848-39356848 - TCGA-BR-8363-01 COSM4041549 c.2432G>A p.R811H Substitution - Missense 12:39333228-39333228 - Pat_36_B COSM1721259 c.2410delA p.R804fs*21 Deletion - Frameshift 12:39333250-39333250 - TCGA-EE-A29S-06 COSM3460395 c.2084C>T p.S695F Substitution - Missense 12:39340352-39340352 - 2492721 COSM938945 c.1073C>T p.T358M Substitution - Missense 12:39358320-39358320 - Gp2D COSM2065244 c.204T>C p.C68C Substitution - coding silent 12:39370102-39370102 - KM12 COSM1676843 c.848G>A p.R283H Substitution - Missense 12:39366405-39366405 - HCC2998 COSM1676845 c.518C>A p.S173* Substitution - Nonsense 12:39367965-39367965 - PT33 COSM5909246 c.4274C>T p.S1425F Substitution - Missense 12:39307694-39307694 - TCGA-BS-A0UF-01 COSM938941 c.1630G>T p.D544Y Substitution - Missense 12:39351820-39351820 - ESO-2536 COSM1255819 c.2696G>T p.R899L Substitution - Missense 12:39332712-39332712 - TCGA-BR-4184-01 COSM4041547 c.2720G>A p.R907H Substitution - Missense 12:39332688-39332688 - B98 COSM1746941 c.4030G>C p.D1344H Substitution - Missense 12:39311444-39311444 - T578 COSM4696026 c.1116G>T p.K372N Substitution - Missense 12:39358277-39358277 - PT42 COSM5925692 c.250G>A p.V84I Substitution - Missense 12:39370056-39370056 - cSCCP4 COSM138873 c.3102G>A p.M1034I Substitution - Missense 12:39331702-39331702 - TCGA-D3-A3C7-06 COSM938936 c.2275C>T p.R759C Substitution - Missense 12:39337200-39337200 - T12 COSM5618797 c.3072C>T p.A1024A Substitution - coding silent 12:39331732-39331732 - TCGA-GF-A6C9-06 COSM4901445 c.2007A>G p.L669L Substitution - coding silent 12:39340970-39340970 - 8062308 COSM84147 c.674G>A p.R225H Substitution - Missense 12:39367091-39367091 - ESCC_126 COSM5641240 c.3433A>G p.T1145A Substitution - Missense 12:39322867-39322867 - SJTALL006 COSM305993 c.2075C>T p.S692L Substitution - Missense 12:39340361-39340361 - KM12 COSM1676843 c.848G>A p.R283H Substitution - Missense 12:39366405-39366405 - TCGA-CJ-5683-01 COSM468307 c.1806G>A p.E602E Substitution - coding silent 12:39341581-39341581 - CHEWS007 COSM4575362 c.2464C>T p.R822W Substitution - Missense 12:39333092-39333092 - KYSE-410 COSM2065196 c.1083C>T p.T361T Substitution - coding silent 12:39358310-39358310 - HCC058T COSM5804374 c.3455A>T p.Y1152F Substitution - Missense 12:39322845-39322845 - TCGA-F5-6814-01 COSM3416806 c.2845G>T p.E949* Substitution - Nonsense 12:39332381-39332381 - 1N58-VS-1T58 COSM4977490 c.2624G>A p.R875K Substitution - Missense 12:39332932-39332932 - TCGA-D8-A1XK-01 COSM3811928 c.336T>C p.G112G Substitution - coding silent 12:39369843-39369843 - TCGA-EE-A3AH-06 COSM3460391 c.2708C>T p.S903F Substitution - Missense 12:39332700-39332700 - Gp5D COSM2065244 c.204T>C p.C68C Substitution - coding silent 12:39370102-39370102 - PT08_2 COSM5893676 c.3280+7T>A p.? Unknown 12:39330739-39330739 - H1672 COSM312336 c.3127G>T p.A1043S Substitution - Missense 12:39330899-39330899 - TCGA-D1-A17Q-01 COSM938943 c.1453G>T p.E485* Substitution - Nonsense 12:39356848-39356848 - TCGA-DR-A0ZM-01 COSM459526 c.673C>T p.R225C Substitution - Missense 12:39367092-39367092 - TCGA-AX-A05Z-01 COSM938942 c.1459G>A p.E487K Substitution - Missense 12:39356842-39356842 - TCGA-EB-A44O-01 COSM3460407 c.628T>C p.L210L Substitution - coding silent 12:39367137-39367137 - PD12803a COSM3770060 c.2839A>T p.R947* Substitution - Nonsense 12:39332387-39332387 - TCGA-CL-5917-01 COSM1562137 c.3633-2A>G p.? Unknown 12:39320015-39320015 - TCGA-CA-6717-01 COSM1361315 c.4288C>T p.R1430* Substitution - Nonsense 12:39307680-39307680 - T578 COSM938943 c.1453G>T p.E485* Substitution - Nonsense 12:39356848-39356848 - BD124T COSM3686056 c.1674-3delT p.? Unknown 12:39342127-39342127 - TCGA-B5-A11E-01 COSM938940 c.1690G>A p.D564N Substitution - Missense 12:39342108-39342108 - TCGA-A6-6140-01 COSM3753214 c.1841G>T p.G614V Substitution - Missense 12:39341546-39341546 - TCGA-BS-A0UF-01 COSM938950 c.538G>T p.D180Y Substitution - Missense 12:39367945-39367945 - 1N32-VS-1T32 COSM4974526 c.3633T>C p.I1211I Substitution - coding silent 12:39320013-39320013 - TCGA-A5-A0VP-01 COSM938930 c.4085T>C p.V1362A Substitution - Missense 12:39309739-39309739 - TCGA-B5-A0JY-01 COSM938952 c.472G>T p.D158Y Substitution - Missense 12:39368011-39368011 - MEL-Ma-Mel-35 COSM1167855 c.2077_2078insG p.V693fs*13 Insertion - Frameshift 12:39340358-39340359 - TCGA-EK-A2RD-01 COSM4820191 c.3614C>A p.P1205H Substitution - Missense 12:39322686-39322686 - TCGA-AC-A23H-01 COSM415878 c.3854C>T p.S1285L Substitution - Missense 12:39318088-39318088 - CSCC-55-T COSM4544271 c.3493G>A p.G1165R Substitution - Missense 12:39322807-39322807 - HCC2998 COSM1676830 c.4229G>A p.R1410Q Substitution - Missense 12:39309595-39309595 - SF268 COSM1676841 c.1168C>T p.R390C Substitution - Missense 12:39358225-39358225 - TCGA-DK-A1AD-01 COSM1299337 c.2290A>G p.M764V Substitution - Missense 12:39337185-39337185 - IGROV-1 COSM1676839 c.1187T>C p.L396P Substitution - Missense 12:39358206-39358206 - HCA7 COSM1361329 c.387delA p.K129fs*3 Deletion - Frameshift 12:39369792-39369792 - AOCS-078-1-9 COSM4041549 c.2432G>A p.R811H Substitution - Missense 12:39333228-39333228 - TCGA-13-1510-01 COSM116656 c.3782C>T p.S1261F Substitution - Missense 12:39318160-39318160 - TCGA-FW-A3R5-06 COSM3871521 c.4583C>T p.P1528L Substitution - Missense 12:39303074-39303074 - CSCC-16-T COSM4545797 c.3827G>A p.R1276H Substitution - Missense 12:39318115-39318115 - TCGA-CL-5917-01 COSM81351 c.2850A>G p.K950K Substitution - coding silent 12:39332376-39332376 - TCGA-29-1707-01 COSM1322539 c.724C>A p.Q242K Substitution - Missense 12:39367041-39367041 - TCGA-GD-A3OS-01 COSM1299336 c.2352G>T p.Q784H Substitution - Missense 12:39337123-39337123 - OSCC-GB_01370111 COSM5955782 c.1234G>C p.E412Q Substitution - Missense 12:39357419-39357419 - LUAD-B00416 COSM330867 c.1834G>T p.D612Y Substitution - Missense 12:39341553-39341553 - TCGA-AX-A05Z-01 COSM938951 c.490C>T p.R164C Substitution - Missense 12:39367993-39367993 - TCGA-AG-A002-01 COSM261662 c.1649G>T p.R550I Substitution - Missense 12:39351801-39351801 - TCGA-AX-A0J0-01 COSM938936 c.2275C>T p.R759C Substitution - Missense 12:39337200-39337200 - TCGA-A6-6651-01 COSM3688178 c.3416A>T p.K1139M Substitution - Missense 12:39325840-39325840 - 2250197 COSM5029601 c.4058-7G>C p.? Unknown 12:39309773-39309773 - TCGA-D3-A1QB-06 COSM3460384 c.4522-2A>C p.? Unknown 12:39303137-39303137 - HCC2998 COSM1676845 c.518C>A p.S173* Substitution - Nonsense 12:39367965-39367965 - TCGA-HC-7077-01 COSM3671060 c.2438A>G p.K813R Substitution - Missense 12:39333222-39333222 - TCGA-BR-6452-01 COSM4041553 c.1256A>T p.N419I Substitution - Missense 12:39357397-39357397 - TCGA-MU-A51Y-01 COSM4836550 c.418C>T p.P140S Substitution - Missense 12:39369761-39369761 - P125 COSM1735944 c.4118_4120delATC p.H1373delH Deletion - In frame 12:39309704-39309706 - 2492709 COSM5718413 c.444C>T p.F148F Substitution - coding silent 12:39369735-39369735 - T3724 COSM4696024 c.1310T>C p.V437A Substitution - Missense 12:39357343-39357343 - 2328683 COSM170145 c.2842C>T p.R948* Substitution - Nonsense 12:39332384-39332384 - TCGA-BS-A0UL-01 COSM938954 c.398T>A p.I133N Substitution - Missense 12:39369781-39369781 - TCGA-AX-A0J0-01 COSM938949 c.685A>G p.I229V Substitution - Missense 12:39367080-39367080 - TCGA-21-5784-01 COSM693273 c.2186A>T p.H729L Substitution - Missense 12:39340250-39340250 - HCC2998 COSM1676836 c.2419G>T p.E807* Substitution - Nonsense 12:39333241-39333241 - ESCC_16 COSM5625744 c.1707C>G p.D569E Substitution - Missense 12:39342091-39342091 - TCGA-AX-A05Z-01 COSM938941 c.1630G>T p.D544Y Substitution - Missense 12:39351820-39351820 - 631056 COSM318387 c.4115_4116insG p.H1373fs*12 Insertion - Frameshift 12:39309708-39309709 - TCGA-34-5927-01 COSM693267 c.820G>C p.D274H Substitution - Missense 12:39366433-39366433 - CSCC-29-T COSM4546249 c.3921G>A p.R1307R Substitution - coding silent 12:39311553-39311553 - ACINAR03 COSM1734421 c.3302-6_3302-5insT p.? Unknown 12:39326329-39326330 - 386 COSM4427089 c.4431A>G p.G1477G Substitution - coding silent 12:39304911-39304911 - TCGA-CI-6624-01 COSM1562136 c.3093C>A p.F1031L Substitution - Missense 12:39331711-39331711 - Gp5D COSM1361329 c.387delA p.K129fs*3 Deletion - Frameshift 12:39369792-39369792 - TCGA-CG-5726-01 COSM3811928 c.336T>C p.G112G Substitution - coding silent 12:39369843-39369843 - LUAD-NYU1021 COSM368030 c.4524G>A p.M1508I Substitution - Missense 12:39303133-39303133 - SJRHB056 COSM3737653 c.4042T>C p.F1348L Substitution - Missense 12:39311432-39311432 - DLD1 COSM4622607 c.2067C>A p.N689K Substitution - Missense 12:39340910-39340910 - TCGA-EB-A44O-01 COSM3460409 c.619T>G p.L207V Substitution - Missense 12:39367146-39367146 - TCGA-CM-6162-01 COSM1361328 c.578G>A p.R193H Substitution - Missense 12:39367905-39367905 - TCGA-UB-A7MB-01 COSM4931237 c.2410A>T p.R804* Substitution - Nonsense 12:39333250-39333250 - CHEWS033 COSM4575360 c.2620G>A p.A874T Substitution - Missense 12:39332936-39332936 - TCGA-61-1901-01 COSM1322542 c.2161A>T p.R721* Substitution - Nonsense 12:39340275-39340275 - TCGA-BS-A0UF-01 COSM938939 c.1740A>C p.E580D Substitution - Missense 12:39342058-39342058 - 2318491 COSM4776790 c.3773C>T p.S1258L Substitution - Missense 12:39318169-39318169 - TCGA-GF-A6C9-06 COSM4899635 c.4537G>A p.E1513K Substitution - Missense 12:39303120-39303120 - 2492708 COSM5718413 c.444C>T p.F148F Substitution - coding silent 12:39369735-39369735 - ESCC-180T COSM3935926 c.4258C>G p.L1420V Substitution - Missense 12:39307710-39307710 - LC_C18 COSM1188467 c.227G>A p.C76Y Substitution - Missense 12:39370079-39370079 - TCGA-FD-A3N5-01 COSM1299338 c.418C>A p.P140T Substitution - Missense 12:39369761-39369761 - TCGA-D5-6928-01 COSM2065060 c.3911C>T p.S1304F Substitution - Missense 12:39315238-39315238 - 90 COSM5015097 c.310G>C p.V104L Substitution - Missense 12:39369869-39369869 - tumor_4105746 COSM5946554 c.2161A>G p.R721G Substitution - Missense 12:39340275-39340275 - SJRHB059R COSM3737753 c.3724G>T p.A1242S Substitution - Missense 12:39319922-39319922 - CSCC-1-T COSM4510108 c.827C>T p.A276V Substitution - Missense 12:39366426-39366426 - RK061_C01 COSM1628572 c.4149T>G p.C1383W Substitution - Missense 12:39309675-39309675 - TCGA-CZ-5456-01 COSM468305 c.3243T>C p.N1081N Substitution - coding silent 12:39330783-39330783 - ESO-175 COSM1255818 c.1486A>G p.S496G Substitution - Missense 12:39351964-39351964 - LIM1215 COSM2065161 c.1629delA p.D544fs*2 Deletion - Frameshift 12:39351821-39351821 - CSCC-32-T COSM4467857 c.1510C>T p.R504* Substitution - Nonsense 12:39351940-39351940 - Pat_14_B COSM5840897 c.2504T>C p.V835A Substitution - Missense 12:39333052-39333052 - TCGA-32-1980-01 COSM3398687 c.3619A>G p.K1207E Substitution - Missense 12:39322681-39322681 - TCGA-D5-6926-01 COSM1322540 c.1223G>C p.R408T Substitution - Missense 12:39357430-39357430 - TCGA-B5-A11E-01 COSM938944 c.1306C>T p.R436C Substitution - Missense 12:39357347-39357347 - YUPAT COSM1705383 c.1922T>A p.I641N Substitution - Missense 12:39341055-39341055 - TCGA-60-2711-01 COSM693266 c.315C>T p.N105N Substitution - coding silent 12:39369864-39369864 - TCGA-13-0887-01 COSM81351 c.2850A>G p.K950K Substitution - coding silent 12:39332376-39332376 - B66-Tumor COSM1746945 c.3073C>G p.R1025G Substitution - Missense 12:39331731-39331731 - B65 COSM1746943 c.3670G>A p.E1224K Substitution - Missense 12:39319976-39319976 - TCGA-EE-A2MR-06 COSM3460411 c.532C>T p.H178Y Substitution - Missense 12:39367951-39367951 - BD121T COSM5515470 c.1184G>A p.R395Q Substitution - Missense 12:39358209-39358209 - T2225 COSM4696012 c.4615C>G p.Q1539E Substitution - Missense 12:39303042-39303042 - T3064 COSM4696014 c.4314G>T p.E1438D Substitution - Missense 12:39307654-39307654 - 2334192 COSM312336 c.3127G>T p.A1043S Substitution - Missense 12:39330899-39330899 - SH-0622 COSM5017532 c.983delT p.L328fs*17 Deletion - Frameshift 12:39363134-39363134 - CRC-06T COSM5456327 c.1728G>T p.K576N Substitution - Missense 12:39342070-39342070 - TCGA-EE-A2MR-06 COSM2065043 c.4060C>T p.R1354C Substitution - Missense 12:39309764-39309764 - PT08_1 COSM5893676 c.3280+7T>A p.? Unknown 12:39330739-39330739 - TCGA-IR-A3LH-01 COSM4832278 c.3544A>T p.I1182F Substitution - Missense 12:39322756-39322756 - ACINAR28 COSM1734426 c.347G>A p.R116Q Substitution - Missense 12:39369832-39369832 - 587376 COSM1212405 c.2683G>T p.G895* Substitution - Nonsense 12:39332725-39332725 - SNUH_G16_S1 COSM3998771 c.4729C>T p.L1577L Substitution - coding silent 12:39301643-39301643 - CHC892T COSM4796505 c.1194G>A p.M398I Substitution - Missense 12:39358199-39358199 - CHC121T COSM3667151 c.1821G>T p.E607D Substitution - Missense 12:39341566-39341566 - LUAD-5V8LT COSM401338 c.2527G>T p.D843Y Substitution - Missense 12:39333029-39333029 - TCGA-BR-7851-01 COSM4041535 c.4777G>T p.G1593C Substitution - Missense 12:39301595-39301595 - 587244 COSM1212408 c.2692G>T p.G898C Substitution - Missense 12:39332716-39332716 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.374199;Hs.374200;Hs.374201 12q12 608283

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.V118G c.353T>G 12 39763628 LGG A G Missense p.I1221T c.3662T>C 12 39716479 BRCA A G Missense p.L1217S c.3650T>C 12 39716491 MM A G Missense p.V1375A c.4124T>C 12 39703541 UCEC A G SpliceDonorSNV . c.1469+2T>C 12 39750632 LUAD A G Synonymous p.G112G c.336T>C 12 39763645 STAD A G Synonymous p.L396L c.1188T>C 12 39752007 CM A G Synonymous p.N1472N c.4416T>C 12 39701393 CM A G Synonymous p.S1355S c.4065T>C 12 39705250 STAD A G Synonymous p.S1408S c.4224T>C 12 39703441 CM - A SpliceDonorInsertion . c.267+2dupT 12 39763839 NSCLC A T Missense p.I133N c.398T>A 12 39763583 UCEC A T Synonymous p.R436R c.1308T>A 12 39751147 LUSC C A Missense p.A1056S c.3166G>T 12 39724701 SCLC C A Missense p.A1153S c.3457G>T 12 39716684 HNSC C A Missense p.A873S c.2617G>T 12 39726780 LUSC C A Missense p.C1497F c.4490G>T 12 39698693 NSCLC C A Missense p.D180Y c.538G>T 12 39761747 BLCA C A Missense p.E615D c.1845G>T 12 39735383 LUSC C A Missense p.G101V c.302G>T 12 39763679 LUAD C A Missense p.G1102C c.3304G>T 12 39724563 UCEC C A Missense p.G1606C c.4816G>T 12 39695397 CM C A Missense p.G277V c.830G>T 12 39760225 BRCA C A Missense p.G337V c.1010G>T 12 39756909 LUAD C A Missense p.G590C c.1768G>T 12 39735871 SCLC C A Missense p.Q749H c.2247G>T 12 39734030 LUAD C A Missense p.Q797H c.2391G>T 12 39730925 BLCA C A Missense p.R467I c.1400G>T 12 39751055 LUAD C A Missense p.R718M c.2153G>T 12 39734124 LUAD C A Missense p.R960I c.2879G>T 12 39726188 GBM C A Nonsense p.E1237* c.3709G>T 12 39713778 SCLC C A Nonsense p.E707* c.2119G>T 12 39734158 BRCA C A Nonsense p.G1564* c.4690G>T 12 39696808 SCLC C A Nonsense p.G184* c.550G>T 12 39761735 LUAD C A Synonymous p.L671L c.2013G>T 12 39734805 LUSC C A Synonymous p.S1312S c.3936G>T 12 39709745 CM C A Synonymous p.V1592V c.4776G>T 12 39695437 OV C A Synonymous p.V1592V c.4776G>T 12 39695437 RCCC - C Frameshift p.H1386Sfs*12 c.4154dupG 12 39703511 SCLC - C Frameshift p.V706Gfs*13 c.2116dupG 12 39734161 CM C G Missense p.D274H c.820G>C 12 39760235 LUSC C G Missense p.E639Q c.1915G>C 12 39735313 HNSC C G Missense p.G1020A c.3059G>C 12 39725586 LUAD C G Missense p.K372N c.1116G>C 12 39752079 LUSC C G Missense p.R1475S c.4425G>C 12 39701384 LUAD C G Missense p.V1634L c.4900G>C 12 39695313 LUSC C T Missense p.C1396Y c.4187G>A 12 39703478 OV C T Missense p.D1358N c.4072G>A 12 39705243 LUAD C T Missense p.D1666N c.4996G>A 12 39688255 CM C T Missense p.E38K c.112G>A 12 39763996 SCLC C T Missense p.G1486R c.4456G>A 12 39698727 CM C T Missense p.R1279Q c.3836G>A 12 39711947 BRCA C T Missense p.R1646Q c.4937G>A 12 39688314 CM C T Missense p.R834H c.2501G>A 12 39726896 BLCA C T Missense p.R901K c.2702G>A 12 39726695 CM C T Synonymous p.E974E c.2922G>A 12 39726145 HNSC C T Synonymous p.V415V c.1245G>A 12 39751210 LUAD G A Missense p.A887V c.2660C>T 12 39726737 STAD G A Missense p.H1542Y c.4624C>T 12 39696874 PRAD G A Missense p.L735F c.2203C>T 12 39734074 OV G A Missense p.P140S c.418C>T 12 39763563 CM G A Missense p.R225H c.674G>A 12 39760893 PAAD G A Missense p.R772C c.2314C>T 12 39731002 CM G A Missense p.S1219F c.3656C>T 12 39716485 THCA G A Missense p.S1274F c.3821C>T 12 39711962 OV G A Missense p.S1298L c.3893C>T 12 39711890 BLCA G A Missense p.S1318F c.3953C>T 12 39709037 CM G A Missense p.S708F c.2123C>T 12 39734154 CM G A Missense p.S916F c.2747C>T 12 39726502 CM G A Missense p.T1187I c.3560C>T 12 39716581 LUAD G A Nonsense p.Q890* c.2668C>T 12 39726729 CM G A Synonymous p.A228A c.684C>T 12 39760883 CM G A Synonymous p.L1164L c.3490C>T 12 39716651 UCEC G A Synonymous p.L1509L c.4525C>T 12 39698658 CM G A Synonymous p.L336L c.1008C>T 12 39756911 UCEC G A Synonymous p.N105N c.315C>T 12 39763666 LUSC G A Synonymous p.T1550T c.4650C>T 12 39696848 HNSC G C Missense p.L1359V c.4075C>G 12 39705240 SCLC G C Missense p.L925V c.2773C>G 12 39726476 BRCA G C Missense p.S296C c.887C>G 12 39760168 SCLC G C Missense p.S315R c.945C>G 12 39756974 LUSC G C Missense p.S315R c.945C>G 12 39756974 NSCLC G C Missense p.S59C c.176C>G 12 39763932 UCEC G C Missense p.T182S c.545C>G 12 39761740 LGG G C Missense p.T831R c.2492C>G 12 39726905 LUAD G C Nonsense p.S1406* c.4217C>G 12 39703448 BLCA G C Nonsense p.S854* c.2561C>G 12 39726836 RCCC G T Missense p.P140T c.418C>A 12 39763563 BLCA G T Synonymous p.L1186L c.3558C>A 12 39716583 LUSC T A Missense p.H1583L c.4748A>T 12 39695465 HNSC T A Missense p.H742L c.2225A>T 12 39734052 LUSC T A Missense p.L359F c.1077A>T 12 39752118 LUAD T A Missense p.Y1518F c.4553A>T 12 39698630 LUAD T A Synonymous p.P1277P c.3831A>T 12 39711952 NB T C Missense p.K1220E c.3658A>G 12 39716483 GBM T C Missense p.K1487R c.4460A>G 12 39698723 ESCA T C Missense p.K826R c.2477A>G 12 39727024 PRAD T C Missense p.M777V c.2329A>G 12 39730987 BLCA T C Missense p.S496G c.1486A>G 12 39745766 ESCA T C Missense p.T1362A c.4084A>G 12 39705231 SCLC T C Synonymous p.G27G c.81A>G 12 39764027 BRCA T C Synonymous p.K963K c.2889A>G 12 39726178 OV T C Synonymous p.Q236Q c.708A>G 12 39760859 CM T C Synonymous p.V1116V c.3348A>G 12 39720119 HNSC T - Frameshift p.D544Ifs*2 c.1629delA 12 39745623 STAD T - Frameshift p.I1235Ffs*7 c.3703delA 12 39713784 STAD T - Frameshift p.K129Nfs*3 c.387delA 12 39763594 STAD T G Missense p.I1323L c.3967A>C 12 39705348 COREAD T G Missense p.K1070T c.3209A>C 12 39724658 HNSC T G Missense p.K800Q c.2398A>C 12 39730918 RCCC T G Missense p.Q815P c.2444A>C 12 39727057 LGG T G Missense p.S1110R c.3328A>C 12 39724056 LUAD T G SpliceAcceptorSNV . c.4561-2A>C 12 39696939 CM - TTAA Frameshift p.K657Ifs*7 c.1969_1970insTTAA 12 39734848 BRCA TT AA Missense p.K363I c.1088_1089delinsTT 12 39752106 CM