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 5 14387852 14387852 + Silent SNP C C T TCGA-OR-A5KZ-01A-11D-A29I-10 TCGA-OR-A5KZ-10A-01D-A29L-10 g.chr5:14387852C>T c.3777C>T c.(3775-3777)ctC>ctT p.L1259L ACC 5 14420027 14420027 + Silent SNP A A C TCGA-OR-A5K9-01A-11D-A29I-10 TCGA-OR-A5K9-11A-11D-A29L-10 g.chr5:14420027A>C c.5100A>C c.(5098-5100)acA>acC p.T1700T ACC 5 14488142 14488142 + Missense_Mutation SNP G G A TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr5:14488142G>A c.7405G>A c.(7405-7407)Ggc>Agc p.G2469S BLCA 5 14291046 14291046 + Silent SNP G G A TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr5:14291046G>A c.762G>A c.(760-762)cgG>cgA p.R254R BLCA 5 14293231 14293232 + Frame_Shift_Ins INS - - ATGA TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr5:14293231_14293232insATGA c.1164_1165insATGA c.(1165-1167)atgfs p.-390fs BLCA 5 14297232 14297232 + Missense_Mutation SNP G G C TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr5:14297232G>C c.1228G>C c.(1228-1230)Gag>Cag p.E410Q BLCA 5 14304625 14304625 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr5:14304625C>T c.1424C>T c.(1423-1425)tCa>tTa p.S475L BLCA 5 14304687 14304687 + Missense_Mutation SNP C C G TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr5:14304687C>G c.1486C>G c.(1486-1488)Ctt>Gtt p.L496V BLCA 5 14336654 14336654 + Missense_Mutation SNP A A G TCGA-XF-A9T6-01A-11D-A42E-08 TCGA-XF-A9T6-10A-01D-A42H-08 g.chr5:14336654A>G c.1864A>G c.(1864-1866)Acc>Gcc p.T622A BLCA 5 14336674 14336674 + Silent SNP G G A TCGA-FD-A43P-01A-31D-A23U-08 TCGA-FD-A43P-10A-01D-A23U-08 g.chr5:14336674G>A c.1884G>A c.(1882-1884)ctG>ctA p.L628L BLCA 5 14358313 14358313 + Silent SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 g.chr5:14358313G>A c.2073G>A c.(2071-2073)caG>caA p.Q691Q BLCA 5 14358374 14358374 + Missense_Mutation SNP C C T TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 g.chr5:14358374C>T c.2134C>T c.(2134-2136)Cgc>Tgc p.R712C BLCA 5 14358454 14358454 + Silent SNP C C T TCGA-KQ-A41P-01A-12D-A339-08 TCGA-KQ-A41P-10F-01D-A339-08 g.chr5:14358454C>T c.2214C>T c.(2212-2214)ctC>ctT p.L738L BLCA 5 14359563 14359563 + Missense_Mutation SNP G G C TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 g.chr5:14359563G>C c.2314G>C c.(2314-2316)Gag>Cag p.E772Q BLCA 5 14363968 14363972 + Frame_Shift_Del DEL ACTTG ACTTG - TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr5:14363968_14363972delACTTG c.2519_2523delACTTG c.(2518-2523)aacttgfs p.NL840fs BLCA 5 14364830 14364830 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 g.chr5:14364830G>A c.2659G>A c.(2659-2661)Gaa>Aaa p.E887K BLCA 5 14381297 14381297 + Missense_Mutation SNP G G T TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 g.chr5:14381297G>T c.3506G>T c.(3505-3507)gGc>gTc p.G1169V BLCA 5 14381300 14381300 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 g.chr5:14381300C>G c.3509C>G c.(3508-3510)tCc>tGc p.S1170C BLCA 5 14387596 14387596 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 g.chr5:14387596G>C c.3620G>C c.(3619-3621)tGt>tCt p.C1207S BLCA 5 14387735 14387735 + Missense_Mutation SNP C C A TCGA-GD-A6C6-01A-21D-A31L-08 TCGA-GD-A6C6-10A-01D-A31J-08 g.chr5:14387735C>A c.3759C>A c.(3757-3759)aaC>aaA p.N1253K BLCA 5 14387928 14387928 + Missense_Mutation SNP G G C TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 g.chr5:14387928G>C c.3853G>C c.(3853-3855)Gag>Cag p.E1285Q BLCA 5 14389431 14389431 + Missense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr5:14389431G>A c.3982G>A c.(3982-3984)Gag>Aag p.E1328K BLCA 5 14389481 14389481 + Missense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr5:14389481G>T c.4032G>T c.(4030-4032)atG>atT p.M1344I BLCA 5 14399063 14399063 + Missense_Mutation SNP T T G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 g.chr5:14399063T>G c.4498T>G c.(4498-4500)Tta>Gta p.L1500V BLCA 5 14399069 14399069 + Nonsense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chr5:14399069C>T c.4504C>T c.(4504-4506)Cga>Tga p.R1502* BLCA 5 14399102 14399102 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr5:14399102G>C c.4537G>C c.(4537-4539)Gaa>Caa p.E1513Q BLCA 5 14406742 14406742 + Silent SNP C C T TCGA-ZF-A9RG-01A-21D-A42E-08 TCGA-ZF-A9RG-10A-01D-A42H-08 g.chr5:14406742C>T c.4920C>T c.(4918-4920)atC>atT p.I1640I BLCA 5 14471541 14471541 + Missense_Mutation SNP G G C TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 g.chr5:14471541G>C c.5878G>C c.(5878-5880)Gaa>Caa p.E1960Q BLCA 5 14472765 14472765 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr5:14472765G>A c.5977G>A c.(5977-5979)Gag>Aag p.E1993K BLCA 5 14481697 14481697 + Missense_Mutation SNP G G C TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr5:14481697G>C c.6435G>C c.(6433-6435)atG>atC p.M2145I BLCA 5 14482691 14482691 + Splice_Site SNP G G T TCGA-FD-A6TF-01A-52D-A32B-08 TCGA-FD-A6TF-10A-21D-A329-08 g.chr5:14482691G>T c.6466G>T c.(6466-6468)Ggg>Tgg p.G2156W BLCA 5 14482799 14482799 + Missense_Mutation SNP G G C TCGA-GU-AATQ-01A-11D-A391-08 TCGA-GU-AATQ-10A-01D-A394-08 g.chr5:14482799G>C c.6574G>C c.(6574-6576)Gag>Cag p.E2192Q BLCA 5 14482837 14482837 + Missense_Mutation SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr5:14482837G>C c.6612G>C c.(6610-6612)aaG>aaC p.K2204N BLCA 5 14485268 14485268 + Missense_Mutation SNP A A G TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 g.chr5:14485268A>G c.6748A>G c.(6748-6750)Att>Gtt p.I2250V BLCA 5 14487590 14487590 + Missense_Mutation SNP G G A TCGA-4Z-AA7M-01A-11D-A391-08 TCGA-4Z-AA7M-10A-01D-A394-08 g.chr5:14487590G>A c.6853G>A c.(6853-6855)Gag>Aag p.E2285K BLCA 5 14487801 14487801 + Missense_Mutation SNP C C G TCGA-XF-A9SJ-01A-11D-A391-08 TCGA-XF-A9SJ-10A-01D-A394-08 g.chr5:14487801C>G c.7064C>G c.(7063-7065)tCt>tGt p.S2355C BLCA 5 14492807 14492807 + Missense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 g.chr5:14492807G>A c.7764G>A c.(7762-7764)atG>atA p.M2588I BLCA 5 14492921 14492921 + Silent SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr5:14492921C>G c.7878C>G c.(7876-7878)ctC>ctG p.L2626L BLCA 5 14497097 14497097 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr5:14497097G>C c.7990G>C c.(7990-7992)Gaa>Caa p.E2664Q BLCA 5 14497101 14497101 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 g.chr5:14497101G>A c.7994G>A c.(7993-7995)gGa>gAa p.G2665E BLCA 5 14498674 14498674 + Missense_Mutation SNP G G T TCGA-XF-AAN3-01A-11D-A42E-08 TCGA-XF-AAN3-10A-01D-A42H-08 g.chr5:14498674G>T c.8257G>T c.(8257-8259)Gat>Tat p.D2753Y BLCA 5 14498739 14498739 + Silent SNP G G C TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr5:14498739G>C c.8322G>C c.(8320-8322)ctG>ctC p.L2774L BLCA 5 14502747 14502747 + Missense_Mutation SNP G G A TCGA-BT-A42E-01A-11D-A23U-08 TCGA-BT-A42E-10A-01D-A23U-08 g.chr5:14502747G>A c.8392G>A c.(8392-8394)Gaa>Aaa p.E2798K BLCA 5 14507245 14507245 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 g.chr5:14507245G>A c.8627G>A c.(8626-8628)cGc>cAc p.R2876H BLCA 5 14508126 14508126 + Missense_Mutation SNP C C G TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr5:14508126C>G c.8889C>G c.(8887-8889)atC>atG p.I2963M BLCA 5 14508300 14508300 + Missense_Mutation SNP G G C TCGA-K4-A5RJ-01A-11D-A289-08 TCGA-K4-A5RJ-10A-01D-A289-08 g.chr5:14508300G>C c.9063G>C c.(9061-9063)caG>caC p.Q3021H BRCA 5 14287160 14287160 + Silent SNP A A G TCGA-A2-A0CK-01A-11D-A228-09 TCGA-A2-A0CK-10A-01D-A22A-09 g.chr5:14287160A>G c.528A>G c.(526-528)aaA>aaG p.K176K BRCA 5 14290896 14290896 + Silent SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr5:14290896C>T c.612C>T c.(610-612)ggC>ggT p.G204G BRCA 5 14290927 14290927 + Missense_Mutation SNP G G A TCGA-C8-A275-01A-21D-A16D-09 TCGA-C8-A275-10A-01D-A16D-09 g.chr5:14290927G>A c.643G>A c.(643-645)Gaa>Aaa p.E215K BRCA 5 14358322 14358322 + Silent SNP G G T TCGA-AR-A2LR-01A-12D-A18P-09 TCGA-AR-A2LR-10A-01D-A18P-09 g.chr5:14358322G>T c.2082G>T c.(2080-2082)ctG>ctT p.L694L BRCA 5 14358332 14358332 + Missense_Mutation SNP G G A TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr5:14358332G>A c.2092G>A c.(2092-2094)Gtg>Atg p.V698M BRCA 5 14358362 14358362 + Missense_Mutation SNP G G C TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 g.chr5:14358362G>C c.2122G>C c.(2122-2124)Gac>Cac p.D708H BRCA 5 14358426 14358426 + Missense_Mutation SNP A A G TCGA-E9-A5UP-01A-11D-A28B-09 TCGA-E9-A5UP-10A-01D-A28E-09 g.chr5:14358426A>G c.2186A>G c.(2185-2187)aAg>aGg p.K729R BRCA 5 14363873 14363873 + Silent SNP G G A TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 g.chr5:14363873G>A c.2424G>A c.(2422-2424)gaG>gaA p.E808E BRCA 5 14399070 14399070 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr5:14399070G>A c.4505G>A c.(4504-4506)cGa>cAa p.R1502Q BRCA 5 14399162 14399162 + Missense_Mutation SNP T T C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 g.chr5:14399162T>C c.4597T>C c.(4597-4599)Tat>Cat p.Y1533H BRCA 5 14399176 14399176 + Silent SNP G G A TCGA-BH-A0AW-01A-11W-A071-09 TCGA-BH-A0AW-10A-01W-A071-09 g.chr5:14399176G>A c.4611G>A c.(4609-4611)ttG>ttA p.L1537L BRCA 5 14472760 14472760 + Missense_Mutation SNP T T C TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 g.chr5:14472760T>C c.5972T>C c.(5971-5973)gTg>gCg p.V1991A BRCA 5 14480117 14480117 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr5:14480117G>A c.6333G>A c.(6331-6333)ctG>ctA p.L2111L BRCA 5 14481719 14481719 + Nonsense_Mutation SNP G G T TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr5:14481719G>T c.6457G>T c.(6457-6459)Gga>Tga p.G2153* BRCA 5 14482735 14482735 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr5:14482735C>A c.6510C>A c.(6508-6510)ttC>ttA p.F2170L BRCA 5 14492843 14492843 + Silent SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 g.chr5:14492843C>G c.7800C>G c.(7798-7800)ccC>ccG p.P2600P BRCA 5 14498736 14498736 + Missense_Mutation SNP C C A TCGA-AR-A251-01A-12D-A167-09 TCGA-AR-A251-10A-01D-A167-09 g.chr5:14498736C>A c.8319C>A c.(8317-8319)agC>agA p.S2773R BRCA 5 14504592 14504592 + Silent SNP C C T TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 g.chr5:14504592C>T c.8502C>T c.(8500-8502)cgC>cgT p.R2834R BRCA 5 14504677 14504677 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr5:14504677A>C c.8587A>C c.(8587-8589)Acc>Ccc p.T2863P BRCA 5 14507247 14507247 + Missense_Mutation SNP C C T TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr5:14507247C>T c.8629C>T c.(8629-8631)Ctc>Ttc p.L2877F BRCA 5 14507272 14507272 + Missense_Mutation SNP G G A TCGA-OL-A5DA-01A-11D-A27P-09 TCGA-OL-A5DA-10A-01D-A27P-09 g.chr5:14507272G>A c.8654G>A c.(8653-8655)gGa>gAa p.G2885E CESC 5 14290885 14290885 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr5:14290885G>A c.601G>A c.(601-603)Gag>Aag p.E201K CESC 5 14291265 14291265 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr5:14291265G>C c.981G>C c.(979-981)caG>caC p.Q327H CESC 5 14316834 14316834 + Silent SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr5:14316834C>T c.1713C>T c.(1711-1713)ttC>ttT p.F571F CESC 5 14461388 14461389 + Frame_Shift_Ins INS - - CGGC TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 g.chr5:14461388_14461389insCGGC c.5464_5465insCGGC c.(5464-5466)gcgfs p.A1822fs CESC 5 14462916 14462916 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr5:14462916C>T c.5549C>T c.(5548-5550)tCg>tTg p.S1850L CESC 5 14477003 14477003 + Splice_Site SNP C C G TCGA-FU-A3EO-01A-11D-A20U-09 TCGA-FU-A3EO-11A-13D-A20U-09 g.chr5:14477003C>G c.6084C>G c.(6082-6084)gaC>gaG p.D2028E CESC 5 14485296 14485296 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 g.chr5:14485296G>A c.6776G>A c.(6775-6777)cGg>cAg p.R2259Q CESC 5 14507291 14507291 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr5:14507291G>C c.8673G>C c.(8671-8673)aaG>aaC p.K2891N CHOL 5 14399006 14399006 + Nonsense_Mutation SNP G G T TCGA-3X-AAV9-01A-72D-A417-09 TCGA-3X-AAV9-10A-01D-A41A-09 g.chr5:14399006G>T c.4441G>T c.(4441-4443)Gag>Tag p.E1481* COAD 5 14270941 14270941 + Frame_Shift_Del DEL A A - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr5:14270941delA c.165delA c.(163-165)cgafs p.R55fs COAD 5 14270947 14270947 + Silent SNP C C T TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr5:14270947C>T c.171C>T c.(169-171)aaC>aaT p.N57N COAD 5 14280432 14280432 + Splice_Site SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:14280432T>C c.234T>C c.(232-234)ggT>ggC p.G78G COAD 5 14287011 14287011 + Missense_Mutation SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr5:14287011A>G c.379A>G c.(379-381)Atc>Gtc p.I127V COAD 5 14287023 14287023 + Missense_Mutation SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr5:14287023C>T c.391C>T c.(391-393)Cgt>Tgt p.R131C COAD 5 14287023 14287023 + Missense_Mutation SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr5:14287023C>T c.391C>T c.(391-393)Cgt>Tgt p.R131C COAD 5 14287144 14287144 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:14287144A>C c.512A>C c.(511-513)aAt>aCt p.N171T COAD 5 14290949 14290949 + Missense_Mutation SNP A A G TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr5:14290949A>G c.665A>G c.(664-666)gAc>gGc p.D222G COAD 5 14297204 14297204 + Silent SNP C C T TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr5:14297204C>T c.1200C>T c.(1198-1200)cgC>cgT p.R400R COAD 5 14297300 14297300 + Silent SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr5:14297300G>A c.1296G>A c.(1294-1296)gcG>gcA p.A432A COAD 5 14316781 14316781 + Missense_Mutation SNP A A G TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr5:14316781A>G c.1660A>G c.(1660-1662)Atc>Gtc p.I554V COAD 5 14336771 14336771 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:14336771C>T c.1981C>T c.(1981-1983)Cgg>Tgg p.R661W COAD 5 14358329 14358329 + Missense_Mutation SNP G G A TCGA-AA-3681-01A-01W-0900-09 TCGA-AA-3681-10A-01W-0900-09 g.chr5:14358329G>A c.2089G>A c.(2089-2091)Gac>Aac p.D697N COAD 5 14358331 14358331 + Silent SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr5:14358331C>T c.2091C>T c.(2089-2091)gaC>gaT p.D697D COAD 5 14358331 14358331 + Silent SNP C C T TCGA-G4-6317-01A-11D-1719-10 TCGA-G4-6317-10A-01D-1720-10 g.chr5:14358331C>T c.2091C>T c.(2089-2091)gaC>gaT p.D697D COAD 5 14358340 14358340 + Silent SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr5:14358340C>T c.2100C>T c.(2098-2100)gcC>gcT p.A700A COAD 5 14363841 14363841 + Splice_Site SNP A A G TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr5:14363841A>G c.2392A>G c.(2392-2394)Att>Gtt p.I798V COAD 5 14363962 14363962 + Missense_Mutation SNP T T C TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr5:14363962T>C c.2513T>C c.(2512-2514)aTg>aCg p.M838T COAD 5 14364857 14364857 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr5:14364857G>A c.2686G>A c.(2686-2688)Gca>Aca p.A896T COAD 5 14369498 14369498 + Frame_Shift_Del DEL G G - TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr5:14369498delG c.3082delG c.(3082-3084)gagfs p.E1028fs COAD 5 14369577 14369577 + Missense_Mutation SNP A A C TCGA-AA-3850-01A-01W-0995-10 TCGA-AA-3850-10A-01W-0995-10 g.chr5:14369577A>C c.3161A>C c.(3160-3162)gAc>gCc p.D1054A COAD 5 14374353 14374353 + Missense_Mutation SNP C C T TCGA-DM-A1D9-01A-11D-A152-10 TCGA-DM-A1D9-10A-01D-A152-10 g.chr5:14374353C>T c.3232C>T c.(3232-3234)Cgg>Tgg p.R1078W COAD 5 14374354 14374354 + Missense_Mutation SNP G G A TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr5:14374354G>A c.3233G>A c.(3232-3234)cGg>cAg p.R1078Q COAD 5 14374408 14374408 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:14374408C>A c.3287C>A c.(3286-3288)cCa>cAa p.P1096Q COAD 5 14387606 14387606 + Silent SNP G G A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr5:14387606G>A c.3630G>A c.(3628-3630)ggG>ggA p.G1210G COAD 5 14387627 14387627 + Frame_Shift_Del DEL A A - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr5:14387627delA c.3651delA c.(3649-3651)atafs p.I1217fs COAD 5 14387901 14387901 + Nonsense_Mutation SNP C C T TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr5:14387901C>T c.3826C>T c.(3826-3828)Cga>Tga p.R1276* COAD 5 14389398 14389398 + Splice_Site SNP A A G TCGA-AA-3968-01A-01W-0995-10 TCGA-AA-3968-10A-01W-0995-10 g.chr5:14389398A>G c.3949A>G c.(3949-3951)Acg>Gcg p.T1317A COAD 5 14389399 14389399 + Splice_Site SNP C C T TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr5:14389399C>T c.3950C>T c.(3949-3951)aCg>aTg p.T1317M COAD 5 14401121 14401121 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:14401121T>C c.4664T>C c.(4663-4665)tTt>tCt p.F1555S COAD 5 14406036 14406036 + Missense_Mutation SNP G G A TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr5:14406036G>A c.4796G>A c.(4795-4797)gGa>gAa p.G1599E COAD 5 14419940 14419940 + Silent SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr5:14419940C>T c.5013C>T c.(5011-5013)aaC>aaT p.N1671N COAD 5 14461131 14461131 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:14461131C>T c.5207C>T c.(5206-5208)tCg>tTg p.S1736L COAD 5 14465652 14465652 + Splice_Site SNP A A C TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr5:14465652A>C c.e37-1 COAD 5 14465725 14465725 + Missense_Mutation SNP T T G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr5:14465725T>G c.5739T>G c.(5737-5739)atT>atG p.I1913M COAD 5 14477049 14477049 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:14477049C>A c.6130C>A c.(6130-6132)Cta>Ata p.L2044I COAD 5 14479450 14479450 + Silent SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:14479450C>A c.6234C>A c.(6232-6234)acC>acA p.T2078T COAD 5 14482709 14482709 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr5:14482709G>A c.6484G>A c.(6484-6486)Ggt>Agt p.G2162S COAD 5 14485345 14485345 + Missense_Mutation SNP T T A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:14485345T>A c.6825T>A c.(6823-6825)aaT>aaA p.N2275K COAD 5 14487619 14487619 + Silent SNP C C G TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr5:14487619C>G c.6882C>G c.(6880-6882)ggC>ggG p.G2294G COAD 5 14487619 14487619 + Silent SNP C C G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr5:14487619C>G c.6882C>G c.(6880-6882)ggC>ggG p.G2294G COAD 5 14488129 14488129 + Silent SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr5:14488129G>A c.7392G>A c.(7390-7392)gcG>gcA p.A2464A COAD 5 14488223 14488223 + Nonsense_Mutation SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr5:14488223C>T c.7486C>T c.(7486-7488)Cga>Tga p.R2496* COAD 5 14492766 14492766 + Nonsense_Mutation SNP G G T TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr5:14492766G>T c.7723G>T c.(7723-7725)Gga>Tga p.G2575* COAD 5 14492768 14492768 + Silent SNP A A G TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr5:14492768A>G c.7725A>G c.(7723-7725)ggA>ggG p.G2575G COAD 5 14497066 14497066 + Silent SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr5:14497066C>T c.7959C>T c.(7957-7959)ggC>ggT p.G2653G COAD 5 14504649 14504649 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:14504649C>T c.8559C>T c.(8557-8559)gtC>gtT p.V2853V COAD 5 14508111 14508111 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr5:14508111C>T c.8874C>T c.(8872-8874)ttC>ttT p.F2958F COAD 5 14508132 14508132 + Silent SNP C C T TCGA-A6-6782-01A-11D-1835-10 TCGA-A6-6782-10A-01D-1835-10 g.chr5:14508132C>T c.8895C>T c.(8893-8895)ctC>ctT p.L2965L COAD 5 14508201 14508201 + Silent SNP C C T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr5:14508201C>T c.8964C>T c.(8962-8964)ggC>ggT p.G2988G COAD 5 14508201 14508201 + Silent SNP C C T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr5:14508201C>T c.8964C>T c.(8962-8964)ggC>ggT p.G2988G COAD 5 14508244 14508244 + Missense_Mutation SNP A A G TCGA-CM-6167-01A-11D-1650-10 TCGA-CM-6167-10A-01D-1650-10 g.chr5:14508244A>G c.9007A>G c.(9007-9009)Aac>Gac p.N3003D COAD 5 14508315 14508315 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:14508315C>T c.9078C>T c.(9076-9078)ttC>ttT p.F3026F COAD 5 14508342 14508342 + Silent SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr5:14508342C>T c.9105C>T c.(9103-9105)ccC>ccT p.P3035P COAD 5 14508361 14508361 + Missense_Mutation SNP G G T TCGA-F4-6460-01A-11D-1771-10 TCGA-F4-6460-10B-01D-1771-10 g.chr5:14508361G>T c.9124G>T c.(9124-9126)Gcg>Tcg p.A3042S COAD 5 14508455 14508455 + Missense_Mutation SNP G G A TCGA-AA-A02Y-01A-43W-A096-10 TCGA-AA-A02Y-10A-01W-A096-10 g.chr5:14508455G>A c.9218G>A c.(9217-9219)cGc>cAc p.R3073H COADREAD 5 14270941 14270941 + Frame_Shift_Del DEL A A - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr5:14270941delA c.165delA c.(163-165)cgafs p.R55fs COADREAD 5 14270947 14270947 + Silent SNP C C T TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr5:14270947C>T c.171C>T c.(169-171)aaC>aaT p.N57N COADREAD 5 14280432 14280432 + Splice_Site SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:14280432T>C c.234T>C c.(232-234)ggT>ggC p.G78G COADREAD 5 14287011 14287011 + Missense_Mutation SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr5:14287011A>G c.379A>G c.(379-381)Atc>Gtc p.I127V COADREAD 5 14287023 14287023 + Missense_Mutation SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr5:14287023C>T c.391C>T c.(391-393)Cgt>Tgt p.R131C COADREAD 5 14287023 14287023 + Missense_Mutation SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr5:14287023C>T c.391C>T c.(391-393)Cgt>Tgt p.R131C COADREAD 5 14287144 14287144 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:14287144A>C c.512A>C c.(511-513)aAt>aCt p.N171T COADREAD 5 14290949 14290949 + Missense_Mutation SNP A A G TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr5:14290949A>G c.665A>G c.(664-666)gAc>gGc p.D222G COADREAD 5 14291124 14291124 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:14291124G>A c.840G>A c.(838-840)caG>caA p.Q280Q COADREAD 5 14297204 14297204 + Silent SNP C C T TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr5:14297204C>T c.1200C>T c.(1198-1200)cgC>cgT p.R400R COADREAD 5 14297300 14297300 + Silent SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr5:14297300G>A c.1296G>A c.(1294-1296)gcG>gcA p.A432A COADREAD 5 14316781 14316781 + Missense_Mutation SNP A A G TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr5:14316781A>G c.1660A>G c.(1660-1662)Atc>Gtc p.I554V COADREAD 5 14336771 14336771 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:14336771C>T c.1981C>T c.(1981-1983)Cgg>Tgg p.R661W COADREAD 5 14336771 14336771 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:14336771C>T c.1981C>T c.(1981-1983)Cgg>Tgg p.R661W COADREAD 5 14358329 14358329 + Missense_Mutation SNP G G A TCGA-AA-3681-01A-01W-0900-09 TCGA-AA-3681-10A-01W-0900-09 g.chr5:14358329G>A c.2089G>A c.(2089-2091)Gac>Aac p.D697N COADREAD 5 14358331 14358331 + Silent SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr5:14358331C>T c.2091C>T c.(2089-2091)gaC>gaT p.D697D COADREAD 5 14358331 14358331 + Silent SNP C C T TCGA-G4-6317-01A-11D-1719-10 TCGA-G4-6317-10A-01D-1720-10 g.chr5:14358331C>T c.2091C>T c.(2089-2091)gaC>gaT p.D697D COADREAD 5 14358340 14358340 + Silent SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr5:14358340C>T c.2100C>T c.(2098-2100)gcC>gcT p.A700A COADREAD 5 14363841 14363841 + Splice_Site SNP A A G TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr5:14363841A>G c.2392A>G c.(2392-2394)Att>Gtt p.I798V COADREAD 5 14363962 14363962 + Missense_Mutation SNP T T C TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr5:14363962T>C c.2513T>C c.(2512-2514)aTg>aCg p.M838T COADREAD 5 14364857 14364857 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr5:14364857G>A c.2686G>A c.(2686-2688)Gca>Aca p.A896T COADREAD 5 14369498 14369498 + Frame_Shift_Del DEL G G - TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr5:14369498delG c.3082delG c.(3082-3084)gagfs p.E1028fs COADREAD 5 14369577 14369577 + Missense_Mutation SNP A A C TCGA-AA-3850-01A-01W-0995-10 TCGA-AA-3850-10A-01W-0995-10 g.chr5:14369577A>C c.3161A>C c.(3160-3162)gAc>gCc p.D1054A COADREAD 5 14374353 14374353 + Missense_Mutation SNP C C T TCGA-DM-A1D9-01A-11D-A152-10 TCGA-DM-A1D9-10A-01D-A152-10 g.chr5:14374353C>T c.3232C>T c.(3232-3234)Cgg>Tgg p.R1078W COADREAD 5 14374354 14374354 + Missense_Mutation SNP G G A TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr5:14374354G>A c.3233G>A c.(3232-3234)cGg>cAg p.R1078Q COADREAD 5 14374408 14374408 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:14374408C>A c.3287C>A c.(3286-3288)cCa>cAa p.P1096Q COADREAD 5 14387606 14387606 + Silent SNP G G A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr5:14387606G>A c.3630G>A c.(3628-3630)ggG>ggA p.G1210G COADREAD 5 14387627 14387627 + Frame_Shift_Del DEL A A - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr5:14387627delA c.3651delA c.(3649-3651)atafs p.I1217fs COADREAD 5 14387901 14387901 + Nonsense_Mutation SNP C C T TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr5:14387901C>T c.3826C>T c.(3826-3828)Cga>Tga p.R1276* COADREAD 5 14389398 14389398 + Splice_Site SNP A A G TCGA-AA-3968-01A-01W-0995-10 TCGA-AA-3968-10A-01W-0995-10 g.chr5:14389398A>G c.3949A>G c.(3949-3951)Acg>Gcg p.T1317A COADREAD 5 14389399 14389399 + Splice_Site SNP C C T TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr5:14389399C>T c.3950C>T c.(3949-3951)aCg>aTg p.T1317M COADREAD 5 14401121 14401121 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:14401121T>C c.4664T>C c.(4663-4665)tTt>tCt p.F1555S COADREAD 5 14406036 14406036 + Missense_Mutation SNP G G A TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr5:14406036G>A c.4796G>A c.(4795-4797)gGa>gAa p.G1599E COADREAD 5 14419928 14419928 + Silent SNP C C T TCGA-DT-5265-01A-21D-1826-10 TCGA-DT-5265-10A-01D-1826-10 g.chr5:14419928C>T c.5001C>T c.(4999-5001)ttC>ttT p.F1667F COADREAD 5 14419940 14419940 + Silent SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr5:14419940C>T c.5013C>T c.(5011-5013)aaC>aaT p.N1671N COADREAD 5 14461131 14461131 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:14461131C>T c.5207C>T c.(5206-5208)tCg>tTg p.S1736L COADREAD 5 14465652 14465652 + Splice_Site SNP A A C TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr5:14465652A>C c.e37-1 COADREAD 5 14465725 14465725 + Missense_Mutation SNP T T G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr5:14465725T>G c.5739T>G c.(5737-5739)atT>atG p.I1913M COADREAD 5 14472720 14472720 + Missense_Mutation SNP G G C TCGA-AF-6655-01A-11D-1826-10 TCGA-AF-6655-10A-01D-1826-10 g.chr5:14472720G>C c.5932G>C c.(5932-5934)Gtg>Ctg p.V1978L COADREAD 5 14472722 14472722 + Silent SNP G G A TCGA-EI-6508-01A-11D-1733-10 TCGA-EI-6508-10A-01D-1733-10 g.chr5:14472722G>A c.5934G>A c.(5932-5934)gtG>gtA p.V1978V COADREAD 5 14477049 14477049 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:14477049C>A c.6130C>A c.(6130-6132)Cta>Ata p.L2044I COADREAD 5 14479450 14479450 + Silent SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:14479450C>A c.6234C>A c.(6232-6234)acC>acA p.T2078T COADREAD 5 14482709 14482709 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr5:14482709G>A c.6484G>A c.(6484-6486)Ggt>Agt p.G2162S COADREAD 5 14485345 14485345 + Missense_Mutation SNP T T A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:14485345T>A c.6825T>A c.(6823-6825)aaT>aaA p.N2275K COADREAD 5 14487619 14487619 + Silent SNP C C G TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr5:14487619C>G c.6882C>G c.(6880-6882)ggC>ggG p.G2294G COADREAD 5 14487619 14487619 + Silent SNP C C G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr5:14487619C>G c.6882C>G c.(6880-6882)ggC>ggG p.G2294G COADREAD 5 14488129 14488129 + Silent SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr5:14488129G>A c.7392G>A c.(7390-7392)gcG>gcA p.A2464A COADREAD 5 14488223 14488223 + Nonsense_Mutation SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr5:14488223C>T c.7486C>T c.(7486-7488)Cga>Tga p.R2496* COADREAD 5 14492766 14492766 + Nonsense_Mutation SNP G G T TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr5:14492766G>T c.7723G>T c.(7723-7725)Gga>Tga p.G2575* COADREAD 5 14492768 14492768 + Silent SNP A A G TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr5:14492768A>G c.7725A>G c.(7723-7725)ggA>ggG p.G2575G COADREAD 5 14497066 14497066 + Silent SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr5:14497066C>T c.7959C>T c.(7957-7959)ggC>ggT p.G2653G COADREAD 5 14504649 14504649 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:14504649C>T c.8559C>T c.(8557-8559)gtC>gtT p.V2853V COADREAD 5 14508111 14508111 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr5:14508111C>T c.8874C>T c.(8872-8874)ttC>ttT p.F2958F COADREAD 5 14508132 14508132 + Silent SNP C C T TCGA-A6-6782-01A-11D-1835-10 TCGA-A6-6782-10A-01D-1835-10 g.chr5:14508132C>T c.8895C>T c.(8893-8895)ctC>ctT p.L2965L COADREAD 5 14508201 14508201 + Silent SNP C C T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr5:14508201C>T c.8964C>T c.(8962-8964)ggC>ggT p.G2988G COADREAD 5 14508201 14508201 + Silent SNP C C T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr5:14508201C>T c.8964C>T c.(8962-8964)ggC>ggT p.G2988G COADREAD 5 14508244 14508244 + Missense_Mutation SNP A A G TCGA-CM-6167-01A-11D-1650-10 TCGA-CM-6167-10A-01D-1650-10 g.chr5:14508244A>G c.9007A>G c.(9007-9009)Aac>Gac p.N3003D COADREAD 5 14508315 14508315 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:14508315C>T c.9078C>T c.(9076-9078)ttC>ttT p.F3026F COADREAD 5 14508342 14508342 + Silent SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr5:14508342C>T c.9105C>T c.(9103-9105)ccC>ccT p.P3035P COADREAD 5 14508361 14508361 + Missense_Mutation SNP G G T TCGA-F4-6460-01A-11D-1771-10 TCGA-F4-6460-10B-01D-1771-10 g.chr5:14508361G>T c.9124G>T c.(9124-9126)Gcg>Tcg p.A3042S COADREAD 5 14508455 14508455 + Missense_Mutation SNP G G A TCGA-AA-A02Y-01A-43W-A096-10 TCGA-AA-A02Y-10A-01W-A096-10 g.chr5:14508455G>A c.9218G>A c.(9217-9219)cGc>cAc p.R3073H DLBC 5 14291259 14291259 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr5:14291259G>A c.975G>A c.(973-975)ctG>ctA p.L325L DLBC 5 14304588 14304588 + Missense_Mutation SNP T T G TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr5:14304588T>G c.1387T>G c.(1387-1389)Tca>Gca p.S463A DLBC 5 14359502 14359502 + Missense_Mutation SNP C C G TCGA-FF-8042-01A-11D-2210-10 TCGA-FF-8042-10A-01D-2210-10 g.chr5:14359502C>G c.2253C>G c.(2251-2253)aaC>aaG p.N751K DLBC 5 14397228 14397228 + Missense_Mutation SNP G G A TCGA-GS-A9TZ-01A-11D-A38X-10 TCGA-GS-A9TZ-10A-01D-A38X-10 g.chr5:14397228G>A c.4388G>A c.(4387-4389)cGa>cAa p.R1463Q ESCA 5 14336722 14336722 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 g.chr5:14336722G>T c.1932G>T c.(1930-1932)gaG>gaT p.E644D ESCA 5 14358418 14358418 + Silent SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 g.chr5:14358418C>T c.2178C>T c.(2176-2178)aaC>aaT p.N726N ESCA 5 14368970 14368970 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr5:14368970G>A c.3028G>A c.(3028-3030)Gtc>Atc p.V1010I ESCA 5 14369614 14369614 + Silent SNP G G A TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr5:14369614G>A c.3198G>A c.(3196-3198)caG>caA p.Q1066Q ESCA 5 14391097 14391097 + Missense_Mutation SNP G G A TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 g.chr5:14391097G>A c.4216G>A c.(4216-4218)Gac>Aac p.D1406N ESCA 5 14406743 14406743 + Missense_Mutation SNP G G A TCGA-Z6-A9VB-01A-21D-A37C-09 TCGA-Z6-A9VB-10A-01D-A37F-09 g.chr5:14406743G>A c.4921G>A c.(4921-4923)Gcc>Acc p.A1641T ESCA 5 14419946 14419946 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr5:14419946C>T c.5019C>T c.(5017-5019)aaC>aaT p.N1673N GBM 5 14389446 14389446 + Missense_Mutation SNP A A G TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 g.chr5:14389446A>G c.3997A>G c.(3997-3999)Att>Gtt p.I1333V GBM 5 14462975 14462975 + Missense_Mutation SNP C C G TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 g.chr5:14462975C>G c.5608C>G c.(5608-5610)Ccg>Gcg p.P1870A GBMLGG 5 14389446 14389446 + Missense_Mutation SNP A A G TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 g.chr5:14389446A>G c.3997A>G c.(3997-3999)Att>Gtt p.I1333V GBMLGG 5 14399169 14399169 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:14399169G>A c.4604G>A c.(4603-4605)aGc>aAc p.S1535N GBMLGG 5 14406753 14406753 + Missense_Mutation SNP C C T TCGA-HW-7495-01A-11D-2024-08 TCGA-HW-7495-10A-01D-2024-08 g.chr5:14406753C>T c.4931C>T c.(4930-4932)aCg>aTg p.T1644M GBMLGG 5 14462920 14462920 + Silent SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:14462920G>T c.5553G>T c.(5551-5553)ggG>ggT p.G1851G GBMLGG 5 14462975 14462975 + Missense_Mutation SNP C C G TCGA-19-5951-01A-11D-1696-08 TCGA-19-5951-11A-01D-1696-08 g.chr5:14462975C>G c.5608C>G c.(5608-5610)Ccg>Gcg p.P1870A GBMLGG 5 14471491 14471491 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:14471491A>G c.5828A>G c.(5827-5829)aAc>aGc p.N1943S GBMLGG 5 14485191 14485191 + Missense_Mutation SNP G G C TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 g.chr5:14485191G>C c.6671G>C c.(6670-6672)tGc>tCc p.C2224S GBMLGG 5 14498282 14498282 + Missense_Mutation SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 g.chr5:14498282G>A c.8132G>A c.(8131-8133)cGc>cAc p.R2711H HNSC 5 14290832 14290832 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr5:14290832T>C c.548T>C c.(547-549)aTg>aCg p.M183T HNSC 5 14291174 14291174 + Nonsense_Mutation SNP C C G TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr5:14291174C>G c.890C>G c.(889-891)tCa>tGa p.S297* HNSC 5 14291310 14291310 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 g.chr5:14291310G>A c.1026G>A c.(1024-1026)ctG>ctA p.L342L HNSC 5 14304622 14304622 + Missense_Mutation SNP C C T TCGA-IQ-A61H-01A-11D-A30E-08 TCGA-IQ-A61H-10A-01D-A30H-08 g.chr5:14304622C>T c.1421C>T c.(1420-1422)cCc>cTc p.P474L HNSC 5 14368963 14368963 + Silent SNP C C G TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 g.chr5:14368963C>G c.3021C>G c.(3019-3021)ctC>ctG p.L1007L HNSC 5 14368980 14368980 + Missense_Mutation SNP C C T TCGA-CV-A6JM-01A-11D-A31L-08 TCGA-CV-A6JM-10A-01D-A31J-08 g.chr5:14368980C>T c.3038C>T c.(3037-3039)tCt>tTt p.S1013F HNSC 5 14369559 14369559 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr5:14369559G>A c.3143G>A c.(3142-3144)gGc>gAc p.G1048D HNSC 5 14378176 14378176 + Missense_Mutation SNP G G A TCGA-CV-5973-01A-11D-1683-08 TCGA-CV-5973-11A-01D-1683-08 g.chr5:14378176G>A c.3387G>A c.(3385-3387)atG>atA p.M1129I HNSC 5 14381332 14381332 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 g.chr5:14381332G>C c.3541G>C c.(3541-3543)Gag>Cag p.E1181Q HNSC 5 14387624 14387624 + Silent SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 g.chr5:14387624G>A c.3648G>A c.(3646-3648)gaG>gaA p.E1216E HNSC 5 14387879 14387879 + Silent SNP C C T TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 g.chr5:14387879C>T c.3804C>T c.(3802-3804)atC>atT p.I1268I HNSC 5 14401070 14401070 + Splice_Site SNP A A G TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 g.chr5:14401070A>G c.e31-1 HNSC 5 14406048 14406048 + Missense_Mutation SNP A A G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 g.chr5:14406048A>G c.4808A>G c.(4807-4809)gAg>gGg p.E1603G HNSC 5 14419991 14419991 + Silent SNP G G T TCGA-CN-A6V3-01A-12D-A34J-08 TCGA-CN-A6V3-10A-01D-A34M-08 g.chr5:14419991G>T c.5064G>T c.(5062-5064)cgG>cgT p.R1688R HNSC 5 14420038 14420038 + Missense_Mutation SNP C C G TCGA-BB-A5HY-01A-11D-A28R-08 TCGA-BB-A5HY-10A-01D-A28U-08 g.chr5:14420038C>G c.5111C>G c.(5110-5112)tCc>tGc p.S1704C HNSC 5 14477072 14477072 + Splice_Site SNP C C G TCGA-HD-7229-01A-11D-2012-08 TCGA-HD-7229-10A-01D-2013-08 g.chr5:14477072C>G c.6153C>G c.(6151-6153)caC>caG p.H2051Q HNSC 5 14480078 14480078 + Missense_Mutation SNP C C G TCGA-D6-A6ES-01A-12D-A31L-08 TCGA-D6-A6ES-10A-01D-A31J-08 g.chr5:14480078C>G c.6294C>G c.(6292-6294)atC>atG p.I2098M HNSC 5 14485286 14485286 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 g.chr5:14485286C>T c.6766C>T c.(6766-6768)Cca>Tca p.P2256S HNSC 5 14487613 14487613 + Silent SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr5:14487613G>C c.6876G>C c.(6874-6876)ggG>ggC p.G2292G HNSC 5 14488150 14488150 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr5:14488150G>A c.7413G>A c.(7411-7413)gaG>gaA p.E2471E HNSC 5 14488184 14488184 + Missense_Mutation SNP G G T TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr5:14488184G>T c.7447G>T c.(7447-7449)Ggc>Tgc p.G2483C HNSC 5 14488246 14488246 + Silent SNP G G C TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 g.chr5:14488246G>C c.7509G>C c.(7507-7509)ccG>ccC p.P2503P HNSC 5 14488346 14488346 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr5:14488346G>T c.7609G>T c.(7609-7611)Gtg>Ttg p.V2537L HNSC 5 14492732 14492732 + Silent SNP G G A TCGA-P3-A6SW-01A-11D-A34J-08 TCGA-P3-A6SW-10A-01D-A34M-08 g.chr5:14492732G>A c.7689G>A c.(7687-7689)acG>acA p.T2563T HNSC 5 14492748 14492748 + Missense_Mutation SNP G G A TCGA-CV-5442-01A-01D-1512-08 TCGA-CV-5442-11A-01D-1512-08 g.chr5:14492748G>A c.7705G>A c.(7705-7707)Gag>Aag p.E2569K HNSC 5 14504668 14504668 + Missense_Mutation SNP G G C TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 g.chr5:14504668G>C c.8578G>C c.(8578-8580)Gag>Cag p.E2860Q HNSC 5 14504698 14504698 + Missense_Mutation SNP G G C TCGA-DQ-7596-01A-11D-2229-08 TCGA-DQ-7596-10D-01D-2229-08 g.chr5:14504698G>C c.8608G>C c.(8608-8610)Gaa>Caa p.E2870Q HNSC 5 14508431 14508431 + Missense_Mutation SNP G G C TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 g.chr5:14508431G>C c.9194G>C c.(9193-9195)aGa>aCa p.R3065T HNSC 5 14508455 14508455 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr5:14508455G>A c.9218G>A c.(9217-9219)cGc>cAc p.R3073H KICH 5 14369520 14369520 + Missense_Mutation SNP A A G TCGA-KN-8426-01A-11D-2310-10 TCGA-KN-8426-11A-01D-2311-10 g.chr5:14369520A>G c.3104A>G c.(3103-3105)aAg>aGg p.K1035R KIPAN 5 14369520 14369520 + Missense_Mutation SNP A A G TCGA-KN-8426-01A-11D-2310-10 TCGA-KN-8426-11A-01D-2311-10 g.chr5:14369520A>G c.3104A>G c.(3103-3105)aAg>aGg p.K1035R KIPAN 5 14387672 14387672 + Frame_Shift_Del DEL T T - TCGA-A4-7732-01A-11D-2136-08 TCGA-A4-7732-10A-01D-2136-08 g.chr5:14387672delT c.3696delT c.(3694-3696)tctfs p.S1232fs KIPAN 5 14401112 14401112 + Missense_Mutation SNP C C A TCGA-UZ-A9PX-01A-11D-A42J-10 TCGA-UZ-A9PX-10A-01D-A42M-10 g.chr5:14401112C>A c.4655C>A c.(4654-4656)cCt>cAt p.P1552H KIPAN 5 14471560 14471560 + Missense_Mutation SNP C C T TCGA-EV-5902-01A-11D-1589-08 TCGA-EV-5902-10A-01D-1589-08 g.chr5:14471560C>T c.5897C>T c.(5896-5898)tCt>tTt p.S1966F KIPAN 5 14485224 14485224 + Missense_Mutation SNP A A T TCGA-CZ-5457-01A-01D-1501-10 TCGA-CZ-5457-11A-01D-1501-10 g.chr5:14485224A>T c.6704A>T c.(6703-6705)aAa>aTa p.K2235I KIPAN 5 14497016 14497016 + Missense_Mutation SNP C C A TCGA-IZ-8195-01A-31D-2396-08 TCGA-IZ-8195-10A-01D-2396-08 g.chr5:14497016C>A c.7909C>A c.(7909-7911)Cgt>Agt p.R2637S KIPAN 5 14497115 14497115 + Missense_Mutation SNP G G C TCGA-F9-A4JJ-01A-11D-A25F-10 TCGA-F9-A4JJ-10A-01D-A25F-10 g.chr5:14497115G>C c.8008G>C c.(8008-8010)Gta>Cta p.V2670L KIPAN 5 14497119 14497119 + Missense_Mutation SNP C C A TCGA-A3-3387-01A-01D-1534-10 TCGA-A3-3387-11A-01D-1534-10 g.chr5:14497119C>A c.8012C>A c.(8011-8013)tCt>tAt p.S2671Y KIRC 5 14485224 14485224 + Missense_Mutation SNP A A T TCGA-CZ-5457-01A-01D-1501-10 TCGA-CZ-5457-11A-01D-1501-10 g.chr5:14485224A>T c.6704A>T c.(6703-6705)aAa>aTa p.K2235I KIRC 5 14497119 14497119 + Missense_Mutation SNP C C A TCGA-A3-3387-01A-01D-1534-10 TCGA-A3-3387-11A-01D-1534-10 g.chr5:14497119C>A c.8012C>A c.(8011-8013)tCt>tAt p.S2671Y KIRP 5 14387672 14387672 + Frame_Shift_Del DEL T T - TCGA-A4-7732-01A-11D-2136-08 TCGA-A4-7732-10A-01D-2136-08 g.chr5:14387672delT c.3696delT c.(3694-3696)tctfs p.S1232fs KIRP 5 14401112 14401112 + Missense_Mutation SNP C C A TCGA-UZ-A9PX-01A-11D-A42J-10 TCGA-UZ-A9PX-10A-01D-A42M-10 g.chr5:14401112C>A c.4655C>A c.(4654-4656)cCt>cAt p.P1552H KIRP 5 14471560 14471560 + Missense_Mutation SNP C C T TCGA-EV-5902-01A-11D-1589-08 TCGA-EV-5902-10A-01D-1589-08 g.chr5:14471560C>T c.5897C>T c.(5896-5898)tCt>tTt p.S1966F KIRP 5 14497016 14497016 + Missense_Mutation SNP C C A TCGA-IZ-8195-01A-31D-2396-08 TCGA-IZ-8195-10A-01D-2396-08 g.chr5:14497016C>A c.7909C>A c.(7909-7911)Cgt>Agt p.R2637S KIRP 5 14497115 14497115 + Missense_Mutation SNP G G C TCGA-F9-A4JJ-01A-11D-A25F-10 TCGA-F9-A4JJ-10A-01D-A25F-10 g.chr5:14497115G>C c.8008G>C c.(8008-8010)Gta>Cta p.V2670L LAML 5 14287024 14287024 + Missense_Mutation SNP G G A TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 g.chr5:14287024G>A c.392G>A c.(391-393)cGt>cAt p.R131H LGG 5 14399169 14399169 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:14399169G>A c.4604G>A c.(4603-4605)aGc>aAc p.S1535N LGG 5 14406753 14406753 + Missense_Mutation SNP C C T TCGA-HW-7495-01A-11D-2024-08 TCGA-HW-7495-10A-01D-2024-08 g.chr5:14406753C>T c.4931C>T c.(4930-4932)aCg>aTg p.T1644M LGG 5 14462920 14462920 + Silent SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:14462920G>T c.5553G>T c.(5551-5553)ggG>ggT p.G1851G LGG 5 14471491 14471491 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:14471491A>G c.5828A>G c.(5827-5829)aAc>aGc p.N1943S LGG 5 14485191 14485191 + Missense_Mutation SNP G G C TCGA-S9-A6WD-01A-12D-A33T-08 TCGA-S9-A6WD-10A-01D-A33W-08 g.chr5:14485191G>C c.6671G>C c.(6670-6672)tGc>tCc p.C2224S LGG 5 14498282 14498282 + Missense_Mutation SNP G G A TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 g.chr5:14498282G>A c.8132G>A c.(8131-8133)cGc>cAc p.R2711H LIHC 5 14270940 14270940 + Missense_Mutation SNP G G A TCGA-ED-A66Y-01A-11D-A30V-10 TCGA-ED-A66Y-10A-01D-A30V-10 g.chr5:14270940G>A c.164G>A c.(163-165)cGa>cAa p.R55Q LIHC 5 14286982 14286982 + Missense_Mutation SNP A A G TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr5:14286982A>G c.350A>G c.(349-351)gAg>gGg p.E117G LIHC 5 14304637 14304637 + Missense_Mutation SNP A A G TCGA-ZP-A9D2-01A-11D-A382-10 TCGA-ZP-A9D2-10B-01D-A385-10 g.chr5:14304637A>G c.1436A>G c.(1435-1437)gAc>gGc p.D479G LIHC 5 14394211 14394211 + Missense_Mutation SNP G G A TCGA-G3-AAV0-01A-11D-A36X-10 TCGA-G3-AAV0-10A-01D-A370-10 g.chr5:14394211G>A c.4283G>A c.(4282-4284)cGa>cAa p.R1428Q LIHC 5 14474101 14474101 + Splice_Site SNP A A G TCGA-BC-A10W-01A-11D-A12Z-10 TCGA-BC-A10W-11A-11D-A12Z-10 g.chr5:14474101A>G c.e40-1 LIHC 5 14502746 14502746 + Silent SNP T T C TCGA-BC-A10W-01A-11D-A12Z-10 TCGA-BC-A10W-11A-11D-A12Z-10 g.chr5:14502746T>C c.8391T>C c.(8389-8391)agT>agC p.S2797S LIHC 5 14508302 14508302 + Missense_Mutation SNP A A G TCGA-BC-A10W-01A-11D-A12Z-10 TCGA-BC-A10W-11A-11D-A12Z-10 g.chr5:14508302A>G c.9065A>G c.(9064-9066)aAg>aGg p.K3022R LUAD 5 14280470 14280470 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 g.chr5:14280470C>T c.272C>T c.(271-273)cCg>cTg p.P91L LUAD 5 14280519 14280519 + Silent SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 g.chr5:14280519C>G c.321C>G c.(319-321)ctC>ctG p.L107L LUAD 5 14280534 14280534 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr5:14280534C>A c.336C>A c.(334-336)gcC>gcA p.A112A LUAD 5 14286999 14286999 + Missense_Mutation SNP G G T TCGA-53-A4EZ-01A-12D-A24P-08 TCGA-53-A4EZ-10A-01D-A24P-08 g.chr5:14286999G>T c.367G>T c.(367-369)Ggc>Tgc p.G123C LUAD 5 14287164 14287164 + Missense_Mutation SNP G G A TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr5:14287164G>A c.532G>A c.(532-534)Gaa>Aaa p.E178K LUAD 5 14291249 14291249 + Missense_Mutation SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr5:14291249G>T c.965G>T c.(964-966)cGg>cTg p.R322L LUAD 5 14291250 14291250 + Silent SNP G G T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr5:14291250G>T c.966G>T c.(964-966)cgG>cgT p.R322R LUAD 5 14291313 14291313 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr5:14291313G>A c.1029G>A c.(1027-1029)agG>agA p.R343R LUAD 5 14291337 14291337 + Splice_Site SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 g.chr5:14291337G>T c.1053G>T c.(1051-1053)aaG>aaT p.K351N LUAD 5 14331009 14331009 + Splice_Site SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 g.chr5:14331009G>T c.1854G>T c.(1852-1854)caG>caT p.Q618H LUAD 5 14331010 14331010 + Splice_Site SNP G G T TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 g.chr5:14331010G>T c.e10+1 LUAD 5 14336661 14336661 + Missense_Mutation SNP C C T TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 g.chr5:14336661C>T c.1871C>T c.(1870-1872)gCg>gTg p.A624V LUAD 5 14358319 14358319 + Missense_Mutation SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 g.chr5:14358319G>C c.2079G>C c.(2077-2079)gaG>gaC p.E693D LUAD 5 14358360 14358360 + Missense_Mutation SNP A A T TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr5:14358360A>T c.2120A>T c.(2119-2121)cAg>cTg p.Q707L LUAD 5 14359475 14359475 + Silent SNP C C T TCGA-86-8672-01A-21D-2393-08 TCGA-86-8672-10A-01D-2393-08 g.chr5:14359475C>T c.2226C>T c.(2224-2226)gcC>gcT p.A742A LUAD 5 14359507 14359507 + Missense_Mutation SNP C C T TCGA-50-5932-01A-11D-1753-08 TCGA-50-5932-11A-01D-1753-08 g.chr5:14359507C>T c.2258C>T c.(2257-2259)tCc>tTc p.S753F LUAD 5 14364019 14364019 + Missense_Mutation SNP A A G TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 g.chr5:14364019A>G c.2570A>G c.(2569-2571)aAt>aGt p.N857S LUAD 5 14369489 14369489 + Missense_Mutation SNP A A T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 g.chr5:14369489A>T c.3073A>T c.(3073-3075)Agc>Tgc p.S1025C LUAD 5 14378120 14378120 + Splice_Site SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 g.chr5:14378120G>T c.e20-1 LUAD 5 14387626 14387627 + Frame_Shift_Ins INS - - A TCGA-17-Z027-01A-01W-0746-08 TCGA-17-Z027-11A-01W-0746-08 g.chr5:14387626_14387627insA c.3650_3651insA c.(3649-3654)ataaaafs p.IK1217fs LUAD 5 14387678 14387678 + Silent SNP G G A TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 g.chr5:14387678G>A c.3702G>A c.(3700-3702)cgG>cgA p.R1234R LUAD 5 14390383 14390383 + Missense_Mutation SNP G G T TCGA-MP-A4TH-01A-31D-A25L-08 TCGA-MP-A4TH-10A-01D-A25L-08 g.chr5:14390383G>T c.4102G>T c.(4102-4104)Gat>Tat p.D1368Y LUAD 5 14399012 14399012 + Missense_Mutation SNP C C G TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr5:14399012C>G c.4447C>G c.(4447-4449)Cag>Gag p.Q1483E LUAD 5 14406721 14406721 + Silent SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 g.chr5:14406721C>T c.4899C>T c.(4897-4899)agC>agT p.S1633S LUAD 5 14419894 14419894 + Missense_Mutation SNP G G T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr5:14419894G>T c.4967G>T c.(4966-4968)gGt>gTt p.G1656V LUAD 5 14420035 14420035 + Missense_Mutation SNP G G T TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr5:14420035G>T c.5108G>T c.(5107-5109)cGc>cTc p.R1703L LUAD 5 14461326 14461326 + Missense_Mutation SNP A A G TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 g.chr5:14461326A>G c.5402A>G c.(5401-5403)aAg>aGg p.K1801R LUAD 5 14462918 14462918 + Missense_Mutation SNP G G T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 g.chr5:14462918G>T c.5551G>T c.(5551-5553)Ggg>Tgg p.G1851W LUAD 5 14462950 14462950 + Missense_Mutation SNP G G T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr5:14462950G>T c.5583G>T c.(5581-5583)gaG>gaT p.E1861D LUAD 5 14463026 14463026 + Missense_Mutation SNP G G A TCGA-55-8299-01A-11D-2284-08 TCGA-55-8299-10B-01D-2323-08 g.chr5:14463026G>A c.5659G>A c.(5659-5661)Gat>Aat p.D1887N LUAD 5 14472747 14472747 + Missense_Mutation SNP G G T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr5:14472747G>T c.5959G>T c.(5959-5961)Gac>Tac p.D1987Y LUAD 5 14474147 14474147 + Missense_Mutation SNP G G C TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr5:14474147G>C c.6024G>C c.(6022-6024)atG>atC p.M2008I LUAD 5 14474198 14474198 + Missense_Mutation SNP G G C TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 g.chr5:14474198G>C c.6075G>C c.(6073-6075)tgG>tgC p.W2025C LUAD 5 14479403 14479403 + Nonsense_Mutation SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 g.chr5:14479403C>T c.6187C>T c.(6187-6189)Caa>Taa p.Q2063* LUAD 5 14481375 14481375 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 g.chr5:14481375G>T c.6369G>T c.(6367-6369)ctG>ctT p.L2123L LUAD 5 14481384 14481384 + Silent SNP A A G TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 g.chr5:14481384A>G c.6378A>G c.(6376-6378)tcA>tcG p.S2126S LUAD 5 14481707 14481707 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr5:14481707G>T c.6445G>T c.(6445-6447)Ggg>Tgg p.G2149W LUAD 5 14482690 14482690 + Splice_Site SNP G G T TCGA-17-Z018-01A-01W-0746-08 TCGA-17-Z018-11A-01W-0746-08 g.chr5:14482690G>T c.e46-1 LUAD 5 14482705 14482705 + Silent SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 g.chr5:14482705C>T c.6480C>T c.(6478-6480)gcC>gcT p.A2160A LUAD 5 14485256 14485256 + Missense_Mutation SNP G G T TCGA-55-8614-01A-11D-2393-08 TCGA-55-8614-10A-01D-2393-08 g.chr5:14485256G>T c.6736G>T c.(6736-6738)Gta>Tta p.V2246L LUAD 5 14487912 14487912 + Missense_Mutation SNP G G T TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chr5:14487912G>T c.7175G>T c.(7174-7176)aGg>aTg p.R2392M LUAD 5 14498234 14498234 + Missense_Mutation SNP C C A TCGA-86-8279-01A-11D-2284-08 TCGA-86-8279-10A-01D-2284-08 g.chr5:14498234C>A c.8084C>A c.(8083-8085)aCg>aAg p.T2695K LUAD 5 14498735 14498735 + Missense_Mutation SNP G G T TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr5:14498735G>T c.8318G>T c.(8317-8319)aGc>aTc p.S2773I LUAD 5 14502699 14502699 + Missense_Mutation SNP G G A TCGA-55-A48Z-01A-12D-A24P-08 TCGA-55-A48Z-10A-01D-A24P-08 g.chr5:14502699G>A c.8344G>A c.(8344-8346)Gat>Aat p.D2782N LUAD 5 14507306 14507306 + Silent SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 g.chr5:14507306G>T c.8688G>T c.(8686-8688)ctG>ctT p.L2896L LUAD 5 14507326 14507326 + Missense_Mutation SNP T T A TCGA-17-Z030-01A-01W-0746-08 TCGA-17-Z030-11A-01W-0746-08 g.chr5:14507326T>A c.8708T>A c.(8707-8709)gTc>gAc p.V2903D LUAD 5 14508097 14508097 + Missense_Mutation SNP G G T TCGA-MN-A4N5-01A-11D-A24P-08 TCGA-MN-A4N5-10A-01D-A24P-08 g.chr5:14508097G>T c.8860G>T c.(8860-8862)Ggg>Tgg p.G2954W LUAD 5 14508353 14508353 + Missense_Mutation SNP C C T TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr5:14508353C>T c.9116C>T c.(9115-9117)cCc>cTc p.P3039L LUAD 5 14508363 14508363 + Silent SNP G G C TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 g.chr5:14508363G>C c.9126G>C c.(9124-9126)gcG>gcC p.A3042A LUSC 5 14286983 14286983 + Silent SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr5:14286983G>A c.351G>A c.(349-351)gaG>gaA p.E117E LUSC 5 14297283 14297283 + Missense_Mutation SNP G G C TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 g.chr5:14297283G>C c.1279G>C c.(1279-1281)Gag>Cag p.E427Q LUSC 5 14330959 14330959 + Missense_Mutation SNP C C G TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 g.chr5:14330959C>G c.1804C>G c.(1804-1806)Cgg>Ggg p.R602G LUSC 5 14331006 14331006 + Silent SNP A A G TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 g.chr5:14331006A>G c.1851A>G c.(1849-1851)gcA>gcG p.A617A LUSC 5 14336720 14336720 + Missense_Mutation SNP G G C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 g.chr5:14336720G>C c.1930G>C c.(1930-1932)Gag>Cag p.E644Q LUSC 5 14374354 14374354 + Missense_Mutation SNP G G A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 g.chr5:14374354G>A c.3233G>A c.(3232-3234)cGg>cAg p.R1078Q LUSC 5 14378141 14378141 + Missense_Mutation SNP C C A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 g.chr5:14378141C>A c.3352C>A c.(3352-3354)Caa>Aaa p.Q1118K LUSC 5 14389424 14389424 + Silent SNP C C A TCGA-22-5471-01A-01D-1632-08 TCGA-22-5471-11A-01D-1632-08 g.chr5:14389424C>A c.3975C>A c.(3973-3975)ggC>ggA p.G1325G LUSC 5 14465677 14465677 + Silent SNP C C T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 g.chr5:14465677C>T c.5691C>T c.(5689-5691)cgC>cgT p.R1897R LUSC 5 14485270 14485270 + Missense_Mutation SNP T T G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 g.chr5:14485270T>G c.6750T>G c.(6748-6750)atT>atG p.I2250M LUSC 5 14488200 14488200 + Missense_Mutation SNP C C G TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr5:14488200C>G c.7463C>G c.(7462-7464)tCc>tGc p.S2488C LUSC 5 14498737 14498737 + Silent SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr5:14498737C>T c.8320C>T c.(8320-8322)Ctg>Ttg p.L2774L LUSC 5 14507302 14507302 + Missense_Mutation SNP A A T TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 g.chr5:14507302A>T c.8684A>T c.(8683-8685)cAc>cTc p.H2895L OV 5 14297204 14297204 + Silent SNP C C G TCGA-04-1331-01A-01W-0486-08 TCGA-04-1331-10A-01W-0486-08 g.chr5:14297204C>G c.1200C>G c.(1198-1200)cgC>cgG p.R400R OV 5 14358356 14358356 + Missense_Mutation SNP G G T TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 g.chr5:14358356G>T c.2116G>T c.(2116-2118)Gtg>Ttg p.V706L OV 5 14369481 14369481 + Splice_Site SNP A A T TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 g.chr5:14369481A>T c.e18-1 OV 5 14369614 14369614 + Missense_Mutation SNP G G C TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 g.chr5:14369614G>C c.3198G>C c.(3196-3198)caG>caC p.Q1066H OV 5 14374353 14374353 + Missense_Mutation SNP C C G TCGA-13-0801-01A-01W-0370-10 TCGA-13-0801-10A-01W-0370-10 g.chr5:14374353C>G c.3232C>G c.(3232-3234)Cgg>Ggg p.R1078G OV 5 14406748 14406748 + Silent SNP A A G TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 g.chr5:14406748A>G c.4926A>G c.(4924-4926)tcA>tcG p.S1642S OV 5 14419940 14419940 + Missense_Mutation SNP C C G TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 g.chr5:14419940C>G c.5013C>G c.(5011-5013)aaC>aaG p.N1671K OV 5 14482753 14482753 + Missense_Mutation SNP T T A TCGA-25-1630-01A-01W-0615-10 TCGA-25-1630-10A-01W-0615-10 g.chr5:14482753T>A c.6528T>A c.(6526-6528)gaT>gaA p.D2176E PAAD 5 14336699 14336699 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:14336699A>G c.1909A>G c.(1909-1911)Act>Gct p.T637A PAAD 5 14336786 14336786 + Nonsense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:14336786C>T c.1996C>T c.(1996-1998)Cga>Tga p.R666* PAAD 5 14358383 14358385 + In_Frame_Del DEL CAG CAG - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 g.chr5:14358383_14358385delCAG c.2143_2145delCAG c.(2143-2145)cagdel p.Q718del PAAD 5 14369491 14369491 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:14369491C>T c.3075C>T c.(3073-3075)agC>agT p.S1025S PAAD 5 14369548 14369548 + Silent SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 g.chr5:14369548G>A c.3132G>A c.(3130-3132)gcG>gcA p.A1044A PAAD 5 14387901 14387901 + Nonsense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:14387901C>T c.3826C>T c.(3826-3828)Cga>Tga p.R1276* PAAD 5 14406776 14406776 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:14406776G>A c.4954G>A c.(4954-4956)Gat>Aat p.D1652N PAAD 5 14482807 14482807 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:14482807C>T c.6582C>T c.(6580-6582)atC>atT p.I2194I PAAD 5 14485295 14485295 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:14485295C>T c.6775C>T c.(6775-6777)Cgg>Tgg p.R2259W PAAD 5 14485348 14485348 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:14485348T>G c.6828T>G c.(6826-6828)ttT>ttG p.F2276L PCPG 5 14287075 14287075 + Missense_Mutation SNP C C G TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 g.chr5:14287075C>G c.443C>G c.(442-444)tCc>tGc p.S148C PCPG 5 14391061 14391061 + Missense_Mutation SNP A A T TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 g.chr5:14391061A>T c.4180A>T c.(4180-4182)Act>Tct p.T1394S PRAD 5 14286996 14286996 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr5:14286996C>T c.364C>T c.(364-366)Cgt>Tgt p.R122C PRAD 5 14287024 14287024 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr5:14287024G>A c.392G>A c.(391-393)cGt>cAt p.R131H PRAD 5 14359623 14359623 + Missense_Mutation SNP G G A TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 g.chr5:14359623G>A c.2374G>A c.(2374-2376)Gag>Aag p.E792K PRAD 5 14363859 14363859 + Missense_Mutation SNP T T G TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 g.chr5:14363859T>G c.2410T>G c.(2410-2412)Tct>Gct p.S804A PRAD 5 14366990 14366990 + Missense_Mutation SNP G G A TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr5:14366990G>A c.2776G>A c.(2776-2778)Gga>Aga p.G926R PRAD 5 14482807 14482807 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr5:14482807C>T c.6582C>T c.(6580-6582)atC>atT p.I2194I PRAD 5 14488270 14488270 + Silent SNP G G T TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 g.chr5:14488270G>T c.7533G>T c.(7531-7533)cgG>cgT p.R2511R PRAD 5 14492825 14492825 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr5:14492825C>T c.7782C>T c.(7780-7782)gcC>gcT p.A2594A PRAD 5 14504503 14504503 + Splice_Site SNP G G A TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 g.chr5:14504503G>A c.8413G>A c.(8413-8415)Ggc>Agc p.G2805S PRAD 5 14504649 14504649 + Silent SNP C C T TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr5:14504649C>T c.8559C>T c.(8557-8559)gtC>gtT p.V2853V PRAD 5 14508079 14508079 + Missense_Mutation SNP T T C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 g.chr5:14508079T>C c.8842T>C c.(8842-8844)Tac>Cac p.Y2948H READ 5 14291124 14291124 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:14291124G>A c.840G>A c.(838-840)caG>caA p.Q280Q READ 5 14336771 14336771 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:14336771C>T c.1981C>T c.(1981-1983)Cgg>Tgg p.R661W READ 5 14419928 14419928 + Silent SNP C C T TCGA-DT-5265-01A-21D-1826-10 TCGA-DT-5265-10A-01D-1826-10 g.chr5:14419928C>T c.5001C>T c.(4999-5001)ttC>ttT p.F1667F READ 5 14472720 14472720 + Missense_Mutation SNP G G C TCGA-AF-6655-01A-11D-1826-10 TCGA-AF-6655-10A-01D-1826-10 g.chr5:14472720G>C c.5932G>C c.(5932-5934)Gtg>Ctg p.V1978L READ 5 14472722 14472722 + Silent SNP G G A TCGA-EI-6508-01A-11D-1733-10 TCGA-EI-6508-10A-01D-1733-10 g.chr5:14472722G>A c.5934G>A c.(5932-5934)gtG>gtA p.V1978V SARC 5 14359550 14359550 + Silent SNP G G T TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 g.chr5:14359550G>T c.2301G>T c.(2299-2301)gcG>gcT p.A767A SARC 5 14368832 14368832 + Missense_Mutation SNP G G A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 g.chr5:14368832G>A c.2890G>A c.(2890-2892)Gcg>Acg p.A964T SARC 5 14405992 14405992 + Silent SNP G G A TCGA-HS-A5N8-01A-11D-A26G-09 TCGA-HS-A5N8-10A-01D-A26G-09 g.chr5:14405992G>A c.4752G>A c.(4750-4752)aaG>aaA p.K1584K SARC 5 14481717 14481717 + Missense_Mutation SNP A A T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 g.chr5:14481717A>T c.6455A>T c.(6454-6456)cAa>cTa p.Q2152L SARC 5 14487871 14487871 + Silent SNP C C T TCGA-DX-AB2S-01A-11D-A38Z-09 TCGA-DX-AB2S-10A-01D-A38Z-09 g.chr5:14487871C>T c.7134C>T c.(7132-7134)ccC>ccT p.P2378P SKCM 5 14271002 14271002 + Missense_Mutation SNP C C T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr5:14271002C>T c.226C>T c.(226-228)Ctt>Ttt p.L76F SKCM 5 14280515 14280515 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr5:14280515G>A c.317G>A c.(316-318)aGa>aAa p.R106K SKCM 5 14280524 14280524 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr5:14280524C>T c.326C>T c.(325-327)tCc>tTc p.S109F SKCM 5 14291101 14291101 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr5:14291101G>A c.817G>A c.(817-819)Gag>Aag p.E273K SKCM 5 14304643 14304643 + Missense_Mutation SNP A A G TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 g.chr5:14304643A>G c.1442A>G c.(1441-1443)gAa>gGa p.E481G SKCM 5 14304662 14304662 + Silent SNP C C T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr5:14304662C>T c.1461C>T c.(1459-1461)caC>caT p.H487H SKCM 5 14336794 14336794 + Silent SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr5:14336794C>T c.2004C>T c.(2002-2004)atC>atT p.I668I SKCM 5 14363864 14363864 + Nonsense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr5:14363864G>A c.2415G>A c.(2413-2415)tgG>tgA p.W805* SKCM 5 14367010 14367010 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:14367010C>T c.2796C>T c.(2794-2796)gcC>gcT p.A932A SKCM 5 14368958 14368958 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:14368958C>T c.3016C>T c.(3016-3018)Cgc>Tgc p.R1006C SKCM 5 14369482 14369482 + Splice_Site SNP G G A TCGA-D3-A51J-06A-11D-A25O-08 TCGA-D3-A51J-10A-01D-A25O-08 g.chr5:14369482G>A c.e18-1 SKCM 5 14369569 14369569 + Silent SNP T T A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr5:14369569T>A c.3153T>A c.(3151-3153)tcT>tcA p.S1051S SKCM 5 14369626 14369626 + Silent SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr5:14369626C>T c.3210C>T c.(3208-3210)ttC>ttT p.F1070F SKCM 5 14387673 14387673 + Silent SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr5:14387673C>T c.3697C>T c.(3697-3699)Ctg>Ttg p.L1233L SKCM 5 14387901 14387901 + Silent SNP C C A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr5:14387901C>A c.3826C>A c.(3826-3828)Cga>Aga p.R1276R SKCM 5 14394211 14394211 + Missense_Mutation SNP G G A TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chr5:14394211G>A c.4283G>A c.(4282-4284)cGa>cAa p.R1428Q SKCM 5 14405957 14405957 + Splice_Site SNP G G A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr5:14405957G>A c.4717G>A c.(4717-4719)Gct>Act p.A1573T SKCM 5 14462919 14462919 + Missense_Mutation SNP G G A TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr5:14462919G>A c.5552G>A c.(5551-5553)gGg>gAg p.G1851E SKCM 5 14462946 14462946 + Missense_Mutation SNP G G A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr5:14462946G>A c.5579G>A c.(5578-5580)gGc>gAc p.G1860D SKCM 5 14465696 14465696 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:14465696C>T c.5710C>T c.(5710-5712)Ccg>Tcg p.P1904S SKCM 5 14471535 14471535 + Missense_Mutation SNP G G A TCGA-FS-A1ZF-06A-12D-A197-08 TCGA-FS-A1ZF-10A-01D-A199-08 g.chr5:14471535G>A c.5872G>A c.(5872-5874)Gag>Aag p.E1958K SKCM 5 14472745 14472745 + Missense_Mutation SNP G G A TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 g.chr5:14472745G>A c.5957G>A c.(5956-5958)cGg>cAg p.R1986Q SKCM 5 14474120 14474120 + Missense_Mutation SNP G G T TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 g.chr5:14474120G>T c.5997G>T c.(5995-5997)atG>atT p.M1999I SKCM 5 14477057 14477057 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr5:14477057C>T c.6138C>T c.(6136-6138)tcC>tcT p.S2046S SKCM 5 14482699 14482699 + Silent SNP C C T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 g.chr5:14482699C>T c.6474C>T c.(6472-6474)atC>atT p.I2158I SKCM 5 14482769 14482769 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr5:14482769C>T c.6544C>T c.(6544-6546)Cgc>Tgc p.R2182C SKCM 5 14482854 14482854 + Missense_Mutation SNP C C T TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chr5:14482854C>T c.6629C>T c.(6628-6630)cCg>cTg p.P2210L SKCM 5 14488204 14488204 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr5:14488204C>T c.7467C>T c.(7465-7467)atC>atT p.I2489I SKCM 5 14488207 14488207 + Silent SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr5:14488207C>T c.7470C>T c.(7468-7470)ccC>ccT p.P2490P SKCM 5 14488216 14488216 + Silent SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 g.chr5:14488216C>T c.7479C>T c.(7477-7479)ccC>ccT p.P2493P SKCM 5 14488280 14488280 + Missense_Mutation SNP C C T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 g.chr5:14488280C>T c.7543C>T c.(7543-7545)Cgc>Tgc p.R2515C SKCM 5 14488282 14488282 + Silent SNP C C T TCGA-D3-A1Q5-06A-11D-A196-08 TCGA-D3-A1Q5-10A-01D-A198-08 g.chr5:14488282C>T c.7545C>T c.(7543-7545)cgC>cgT p.R2515R SKCM 5 14488291 14488291 + Silent SNP C C T TCGA-EE-A2A5-06A-11D-A197-08 TCGA-EE-A2A5-10A-01D-A199-08 g.chr5:14488291C>T c.7554C>T c.(7552-7554)gcC>gcT p.A2518A SKCM 5 14492705 14492705 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:14492705C>T c.7662C>T c.(7660-7662)tcC>tcT p.S2554S SKCM 5 14497966 14497966 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr5:14497966C>T c.8030C>T c.(8029-8031)cCc>cTc p.P2677L SKCM 5 14498703 14498703 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:14498703C>T c.8286C>T c.(8284-8286)gtC>gtT p.V2762V SKCM 5 14507328 14507328 + Missense_Mutation SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr5:14507328C>T c.8710C>T c.(8710-8712)Cgg>Tgg p.R2904W SKCM 5 14508315 14508315 + Silent SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr5:14508315C>T c.9078C>T c.(9076-9078)ttC>ttT p.F3026F SKCM 5 14508475 14508475 + Nonsense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:14508475C>T c.9238C>T c.(9238-9240)Cga>Tga p.R3080*

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 5 14488211 14488211 single base substitution T C downstream_gene_variant BLCA-CN 5 14488211 14488211 single base substitution T C exon_variant BLCA-CN 5 14488211 14488211 single base substitution T C intron_variant BLCA-CN 5 14488211 14488211 single base substitution T C missense_variant S2225P 6673T>C BLCA-CN 5 14488211 14488211 single base substitution T C missense_variant S2492P 7474T>C BLCA-CN 5 14488211 14488211 single base substitution T C upstream_gene_variant BLCA-CN 5 14488281 14488281 single base substitution G A downstream_gene_variant BLCA-CN 5 14488281 14488281 single base substitution G A exon_variant BLCA-CN 5 14488281 14488281 single base substitution G A intron_variant BLCA-CN 5 14488281 14488281 single base substitution G A missense_variant R2248H 6743G>A BLCA-CN 5 14488281 14488281 single base substitution G A missense_variant R2515H 7544G>A BLCA-CN 5 14488281 14488281 single base substitution G A upstream_gene_variant BLCA-US 5 14304625 14304625 single base substitution C T exon_variant BLCA-US 5 14304625 14304625 single base substitution C T missense_variant S208L 623C>T BLCA-US 5 14304625 14304625 single base substitution C T missense_variant S426L 1277C>T BLCA-US 5 14304625 14304625 single base substitution C T missense_variant S475L 1424C>T BLCA-US 5 14358313 14358313 single base substitution G A exon_variant BLCA-US 5 14358313 14358313 single base substitution G A synonymous_variant Q424Q 1272G>A BLCA-US 5 14358313 14358313 single base substitution G A synonymous_variant Q642Q 1926G>A BLCA-US 5 14358313 14358313 single base substitution G A synonymous_variant Q691Q 2073G>A BLCA-US 5 14359563 14359563 single base substitution G C exon_variant BLCA-US 5 14359563 14359563 single base substitution G C missense_variant E505Q 1513G>C BLCA-US 5 14359563 14359563 single base substitution G C missense_variant E723Q 2167G>C BLCA-US 5 14359563 14359563 single base substitution G C missense_variant E772Q 2314G>C BLCA-US 5 14381300 14381300 single base substitution C G exon_variant BLCA-US 5 14381300 14381300 single base substitution C G missense_variant S1121C 3362C>G BLCA-US 5 14381300 14381300 single base substitution C G missense_variant S1170C 3509C>G BLCA-US 5 14381300 14381300 single base substitution C G missense_variant S903C 2708C>G BLCA-US 5 14387596 14387596 single base substitution G C exon_variant BLCA-US 5 14387596 14387596 single base substitution G C missense_variant C1158S 3473G>C BLCA-US 5 14387596 14387596 single base substitution G C missense_variant C1207S 3620G>C BLCA-US 5 14387596 14387596 single base substitution G C missense_variant C940S 2819G>C BLCA-US 5 14387596 14387596 single base substitution G C upstream_gene_variant BLCA-US 5 14387928 14387928 single base substitution G C exon_variant BLCA-US 5 14387928 14387928 single base substitution G C missense_variant E1018Q 3052G>C BLCA-US 5 14387928 14387928 single base substitution G C missense_variant E1236Q 3706G>C BLCA-US 5 14387928 14387928 single base substitution G C missense_variant E1285Q 3853G>C BLCA-US 5 14387928 14387928 single base substitution G C upstream_gene_variant BLCA-US 5 14389431 14389431 single base substitution G A downstream_gene_variant BLCA-US 5 14389431 14389431 single base substitution G A exon_variant BLCA-US 5 14389431 14389431 single base substitution G A missense_variant E1061K 3181G>A BLCA-US 5 14389431 14389431 single base substitution G A missense_variant E1279K 3835G>A BLCA-US 5 14389431 14389431 single base substitution G A missense_variant E1328K 3982G>A BLCA-US 5 14399063 14399063 single base substitution T G downstream_gene_variant BLCA-US 5 14399063 14399063 single base substitution T G exon_variant BLCA-US 5 14399063 14399063 single base substitution T G missense_variant L1233V 3697T>G BLCA-US 5 14399063 14399063 single base substitution T G missense_variant L1451V 4351T>G BLCA-US 5 14399063 14399063 single base substitution T G missense_variant L1500V 4498T>G BLCA-US 5 14399063 14399063 single base substitution T G upstream_gene_variant BLCA-US 5 14399069 14399069 single base substitution C T downstream_gene_variant BLCA-US 5 14399069 14399069 single base substitution C T exon_variant BLCA-US 5 14399069 14399069 single base substitution C T stop_gained R1235* 3703C>T BLCA-US 5 14399069 14399069 single base substitution C T stop_gained R1453* 4357C>T BLCA-US 5 14399069 14399069 single base substitution C T stop_gained R1502* 4504C>T BLCA-US 5 14399069 14399069 single base substitution C T upstream_gene_variant BLCA-US 5 14472765 14472765 single base substitution G A missense_variant E1726K 5176G>A BLCA-US 5 14472765 14472765 single base substitution G A missense_variant E1993K 5977G>A BLCA-US 5 14472765 14472765 single base substitution G A splice_region_variant BLCA-US 5 14472765 14472765 single base substitution G A upstream_gene_variant BLCA-US 5 14485268 14485268 single base substitution A G downstream_gene_variant BLCA-US 5 14485268 14485268 single base substitution A G exon_variant BLCA-US 5 14485268 14485268 single base substitution A G missense_variant I1983V 5947A>G BLCA-US 5 14485268 14485268 single base substitution A G missense_variant I2250V 6748A>G BLCA-US 5 14485268 14485268 single base substitution A G upstream_gene_variant BLCA-US 5 14492807 14492807 single base substitution G A 3_prime_UTR_variant BLCA-US 5 14492807 14492807 single base substitution G A downstream_gene_variant BLCA-US 5 14492807 14492807 single base substitution G A exon_variant BLCA-US 5 14492807 14492807 single base substitution G A missense_variant M2321I 6963G>A BLCA-US 5 14492807 14492807 single base substitution G A missense_variant M2412I 7236G>A BLCA-US 5 14492807 14492807 single base substitution G A missense_variant M2588I 7764G>A BLCA-US 5 14492807 14492807 single base substitution G A missense_variant M87I 261G>A BLCA-US 5 14497101 14497101 single base substitution G A 3_prime_UTR_variant BLCA-US 5 14497101 14497101 single base substitution G A downstream_gene_variant BLCA-US 5 14497101 14497101 single base substitution G A missense_variant G164E 491G>A BLCA-US 5 14497101 14497101 single base substitution G A missense_variant G2398E 7193G>A BLCA-US 5 14497101 14497101 single base substitution G A missense_variant G2489E 7466G>A BLCA-US 5 14497101 14497101 single base substitution G A missense_variant G2665E 7994G>A BLCA-US 5 14497101 14497101 single base substitution G A upstream_gene_variant BLCA-US 5 14507245 14507245 single base substitution G A 3_prime_UTR_variant BLCA-US 5 14507245 14507245 single base substitution G A downstream_gene_variant BLCA-US 5 14507245 14507245 single base substitution G A intron_variant BLCA-US 5 14507245 14507245 single base substitution G A missense_variant R2700H 8099G>A BLCA-US 5 14507245 14507245 single base substitution G A missense_variant R2876H 8627G>A BLCA-US 5 14507245 14507245 single base substitution G A missense_variant R375H 1124G>A BOCA-FR 5 14209817 14209817 single base substitution G C intron_variant BOCA-FR 5 14454458 14454458 single base substitution C T intron_variant BOCA-FR 5 14480752 14480752 single base substitution G T downstream_gene_variant BOCA-FR 5 14480752 14480752 single base substitution G T intron_variant BOCA-FR 5 14480752 14480752 single base substitution G T upstream_gene_variant BRCA-EU 5 14138910 14138910 single base substitution C G upstream_gene_variant BRCA-EU 5 14139290 14139290 single base substitution C G upstream_gene_variant BRCA-EU 5 14139432 14139432 single base substitution C T upstream_gene_variant BRCA-EU 5 14139617 14139617 single base substitution T A upstream_gene_variant BRCA-EU 5 14142778 14142778 single base substitution C T upstream_gene_variant BRCA-EU 5 14143111 14143111 single base substitution G C upstream_gene_variant BRCA-EU 5 14145674 14145674 single base substitution A G intron_variant BRCA-EU 5 14147375 14147375 single base substitution G T intron_variant BRCA-EU 5 14147531 14147531 deletion of <=200bp T - intron_variant BRCA-EU 5 14147771 14147771 single base substitution C G intron_variant BRCA-EU 5 14148062 14148062 single base substitution G A intron_variant BRCA-EU 5 14148546 14148546 single base substitution G T intron_variant BRCA-EU 5 14150129 14150129 single base substitution C T intron_variant BRCA-EU 5 14151945 14151945 single base substitution G A intron_variant BRCA-EU 5 14152536 14152536 single base substitution A G intron_variant BRCA-EU 5 14152677 14152677 single base substitution C T intron_variant BRCA-EU 5 14153529 14153529 insertion of <=200bp - T intron_variant BRCA-EU 5 14153570 14153570 single base substitution C G intron_variant BRCA-EU 5 14153705 14153705 single base substitution G A intron_variant BRCA-EU 5 14153922 14153922 single base substitution C T intron_variant BRCA-EU 5 14156189 14156189 single base substitution G A intron_variant BRCA-EU 5 14159946 14159946 single base substitution T A intron_variant BRCA-EU 5 14160772 14160772 single base substitution C T intron_variant BRCA-EU 5 14161104 14161104 single base substitution C G intron_variant BRCA-EU 5 14161745 14161745 single base substitution C G intron_variant BRCA-EU 5 14162289 14162289 single base substitution G A intron_variant BRCA-EU 5 14163680 14163680 single base substitution T G intron_variant BRCA-EU 5 14166602 14166602 deletion of <=200bp A - intron_variant BRCA-EU 5 14167095 14167095 single base substitution C T intron_variant BRCA-EU 5 14168375 14168375 single base substitution G C intron_variant BRCA-EU 5 14168499 14168499 single base substitution C G intron_variant BRCA-EU 5 14168870 14168870 single base substitution A G intron_variant BRCA-EU 5 14171675 14171675 single base substitution C G intron_variant BRCA-EU 5 14172078 14172078 single base substitution C A intron_variant BRCA-EU 5 14172566 14172569 deletion of <=200bp CAGT - intron_variant BRCA-EU 5 14172686 14172686 single base substitution A T intron_variant BRCA-EU 5 14172687 14172687 single base substitution C A intron_variant BRCA-EU 5 14173570 14173570 single base substitution C T intron_variant BRCA-EU 5 14174054 14174054 single base substitution T C intron_variant BRCA-EU 5 14175033 14175033 single base substitution A G intron_variant BRCA-EU 5 14175355 14175355 single base substitution C A intron_variant BRCA-EU 5 14176081 14176081 single base substitution T C intron_variant BRCA-EU 5 14176269 14176269 single base substitution C G intron_variant BRCA-EU 5 14177766 14177766 single base substitution G C intron_variant BRCA-EU 5 14178322 14178322 single base substitution G A intron_variant BRCA-EU 5 14178327 14178327 single base substitution T A intron_variant BRCA-EU 5 14178505 14178505 single base substitution G C intron_variant BRCA-EU 5 14178657 14178657 single base substitution A T intron_variant BRCA-EU 5 14178823 14178823 deletion of <=200bp T - intron_variant BRCA-EU 5 14179722 14179722 single base substitution T A intron_variant BRCA-EU 5 14179722 14179722 single base substitution T A upstream_gene_variant BRCA-EU 5 14179724 14179724 single base substitution T A intron_variant BRCA-EU 5 14179724 14179724 single base substitution T A upstream_gene_variant BRCA-EU 5 14180082 14180082 single base substitution C T intron_variant BRCA-EU 5 14180082 14180082 single base substitution C T upstream_gene_variant BRCA-EU 5 14181079 14181079 single base substitution A G intron_variant BRCA-EU 5 14181079 14181079 single base substitution A G upstream_gene_variant BRCA-EU 5 14181184 14181184 single base substitution G A intron_variant BRCA-EU 5 14181184 14181184 single base substitution G A upstream_gene_variant BRCA-EU 5 14182372 14182372 single base substitution C G intron_variant BRCA-EU 5 14182372 14182372 single base substitution C G upstream_gene_variant BRCA-EU 5 14183236 14183236 single base substitution T C intron_variant BRCA-EU 5 14183236 14183236 single base substitution T C upstream_gene_variant BRCA-EU 5 14183411 14183411 single base substitution C G intron_variant BRCA-EU 5 14183411 14183411 single base substitution C G upstream_gene_variant BRCA-EU 5 14183486 14183486 single base substitution A G intron_variant BRCA-EU 5 14183486 14183486 single base substitution A G upstream_gene_variant BRCA-EU 5 14183766 14183766 single base substitution T C intron_variant BRCA-EU 5 14183766 14183766 single base substitution T C upstream_gene_variant BRCA-EU 5 14183950 14183950 single base substitution G C 5_prime_UTR_variant BRCA-EU 5 14183950 14183950 single base substitution G C intron_variant BRCA-EU 5 14184171 14184171 single base substitution C T intron_variant BRCA-EU 5 14187215 14187215 single base substitution C G intron_variant BRCA-EU 5 14187977 14187977 single base substitution G C intron_variant BRCA-EU 5 14190040 14190040 single base substitution A T intron_variant BRCA-EU 5 14190268 14190268 single base substitution G A intron_variant BRCA-EU 5 14190463 14190463 single base substitution C A intron_variant BRCA-EU 5 14190574 14190574 single base substitution C T intron_variant BRCA-EU 5 14191121 14191121 single base substitution C G intron_variant BRCA-EU 5 14191208 14191208 single base substitution G A intron_variant BRCA-EU 5 14192246 14192246 single base substitution C T intron_variant BRCA-EU 5 14194397 14194397 deletion of <=200bp G - intron_variant BRCA-EU 5 14194402 14194402 single base substitution C T intron_variant BRCA-EU 5 14194615 14194615 single base substitution T G intron_variant BRCA-EU 5 14194838 14194838 single base substitution T G intron_variant BRCA-EU 5 14196483 14196483 single base substitution G T intron_variant BRCA-EU 5 14199123 14199123 single base substitution A G intron_variant BRCA-EU 5 14199349 14199349 single base substitution A G intron_variant BRCA-EU 5 14199536 14199536 single base substitution C T intron_variant BRCA-EU 5 14201248 14201248 single base substitution A T intron_variant BRCA-EU 5 14201508 14201508 single base substitution A T intron_variant BRCA-EU 5 14202605 14202605 single base substitution C G intron_variant BRCA-EU 5 14203644 14203644 single base substitution G C intron_variant BRCA-EU 5 14204799 14204799 single base substitution T A intron_variant BRCA-EU 5 14204949 14204949 single base substitution C T intron_variant BRCA-EU 5 14205094 14205094 single base substitution C A intron_variant BRCA-EU 5 14205220 14205220 single base substitution G A intron_variant BRCA-EU 5 14206955 14206958 deletion of <=200bp TTTA - intron_variant BRCA-EU 5 14208695 14208695 single base substitution T C intron_variant BRCA-EU 5 14208700 14208700 single base substitution C A intron_variant BRCA-EU 5 14210636 14210636 single base substitution A G intron_variant BRCA-EU 5 14211040 14211040 single base substitution C T intron_variant BRCA-EU 5 14211070 14211070 single base substitution C G intron_variant BRCA-EU 5 14215550 14215550 single base substitution T C intron_variant BRCA-EU 5 14215969 14215969 single base substitution T A intron_variant BRCA-EU 5 14216338 14216338 single base substitution G A intron_variant BRCA-EU 5 14217224 14217224 single base substitution C A intron_variant BRCA-EU 5 14217786 14217786 single base substitution T C intron_variant BRCA-EU 5 14218304 14218304 single base substitution T C intron_variant BRCA-EU 5 14219907 14219907 single base substitution G A intron_variant BRCA-EU 5 14220333 14220333 single base substitution C G intron_variant BRCA-EU 5 14220480 14220480 single base substitution C A intron_variant BRCA-EU 5 14221338 14221338 deletion of <=200bp T - intron_variant BRCA-EU 5 14222343 14222343 single base substitution T C intron_variant BRCA-EU 5 14222957 14222957 single base substitution C T intron_variant BRCA-EU 5 14225910 14225910 single base substitution C G intron_variant BRCA-EU 5 14228780 14228780 single base substitution C G intron_variant BRCA-EU 5 14229411 14229411 single base substitution G A intron_variant BRCA-EU 5 14229729 14229729 single base substitution C G intron_variant BRCA-EU 5 14229812 14229812 single base substitution G A intron_variant BRCA-EU 5 14230542 14230542 single base substitution G T intron_variant BRCA-EU 5 14230713 14230713 single base substitution T C intron_variant BRCA-EU 5 14230873 14230873 single base substitution G A intron_variant BRCA-EU 5 14231773 14231773 single base substitution G T intron_variant BRCA-EU 5 14232342 14232342 single base substitution G A intron_variant BRCA-EU 5 14234635 14234635 single base substitution T C intron_variant BRCA-EU 5 14237088 14237088 single base substitution C T intron_variant BRCA-EU 5 14238824 14238824 single base substitution C T intron_variant BRCA-EU 5 14238872 14238872 deletion of <=200bp G - intron_variant BRCA-EU 5 14239531 14239532 deletion of <=200bp AG - intron_variant BRCA-EU 5 14241128 14241128 single base substitution G A intron_variant BRCA-EU 5 14241562 14241563 deletion of <=200bp AG - intron_variant BRCA-EU 5 14243711 14243711 deletion of <=200bp A - intron_variant BRCA-EU 5 14245079 14245079 single base substitution G C intron_variant BRCA-EU 5 14245629 14245629 single base substitution G C intron_variant BRCA-EU 5 14247234 14247234 single base substitution C T intron_variant BRCA-EU 5 14251603 14251603 single base substitution T G intron_variant BRCA-EU 5 14251804 14251804 single base substitution C T intron_variant BRCA-EU 5 14251989 14251989 single base substitution C T intron_variant BRCA-EU 5 14252082 14252082 single base substitution A T intron_variant BRCA-EU 5 14252325 14252325 single base substitution C T intron_variant BRCA-EU 5 14253223 14253223 single base substitution G C intron_variant BRCA-EU 5 14255540 14255540 single base substitution C G intron_variant BRCA-EU 5 14257101 14257101 single base substitution C G intron_variant BRCA-EU 5 14257406 14257406 single base substitution C G intron_variant BRCA-EU 5 14257681 14257681 single base substitution G T intron_variant BRCA-EU 5 14258328 14258328 single base substitution C T intron_variant BRCA-EU 5 14258339 14258339 insertion of <=200bp - C intron_variant BRCA-EU 5 14258592 14258592 single base substitution A G intron_variant BRCA-EU 5 14261878 14261878 single base substitution G C intron_variant BRCA-EU 5 14262227 14262227 single base substitution G A intron_variant BRCA-EU 5 14265459 14265459 single base substitution G A intron_variant BRCA-EU 5 14265531 14265531 single base substitution T A intron_variant BRCA-EU 5 14266190 14266190 single base substitution G C intron_variant BRCA-EU 5 14267029 14267029 single base substitution G A intron_variant BRCA-EU 5 14267817 14267817 single base substitution G A intron_variant BRCA-EU 5 14270257 14270257 single base substitution C A intron_variant BRCA-EU 5 14270508 14270508 single base substitution G C intron_variant BRCA-EU 5 14270951 14270951 single base substitution G A 5_prime_UTR_variant BRCA-EU 5 14270951 14270951 single base substitution G A exon_variant BRCA-EU 5 14270951 14270951 single base substitution G A missense_variant E10K 28G>A BRCA-EU 5 14270951 14270951 single base substitution G A missense_variant E59K 175G>A BRCA-EU 5 14273866 14273866 single base substitution C A intron_variant BRCA-EU 5 14275416 14275416 single base substitution G C intron_variant BRCA-EU 5 14277018 14277018 single base substitution G C intron_variant BRCA-EU 5 14277296 14277296 single base substitution G C intron_variant BRCA-EU 5 14277510 14277510 single base substitution T G intron_variant BRCA-EU 5 14278478 14278478 single base substitution G T intron_variant BRCA-EU 5 14278519 14278519 single base substitution G T intron_variant BRCA-EU 5 14278752 14278752 single base substitution G A intron_variant BRCA-EU 5 14279190 14279190 single base substitution C T intron_variant BRCA-EU 5 14279536 14279536 single base substitution A T intron_variant BRCA-EU 5 14279625 14279625 single base substitution A C intron_variant BRCA-EU 5 14280105 14280105 single base substitution G C intron_variant BRCA-EU 5 14280299 14280299 single base substitution G A intron_variant BRCA-EU 5 14280919 14280919 single base substitution C T intron_variant BRCA-EU 5 14281527 14281527 single base substitution G A intron_variant BRCA-EU 5 14284481 14284481 single base substitution G C intron_variant BRCA-EU 5 14285993 14285993 single base substitution T C intron_variant BRCA-EU 5 14286117 14286117 single base substitution G A intron_variant BRCA-EU 5 14286117 14286117 single base substitution G A upstream_gene_variant BRCA-EU 5 14289330 14289330 single base substitution C G downstream_gene_variant BRCA-EU 5 14289330 14289330 single base substitution C G intron_variant BRCA-EU 5 14289330 14289330 single base substitution C G upstream_gene_variant BRCA-EU 5 14289497 14289497 single base substitution A G downstream_gene_variant BRCA-EU 5 14289497 14289497 single base substitution A G intron_variant BRCA-EU 5 14289497 14289497 single base substitution A G upstream_gene_variant BRCA-EU 5 14289640 14289640 single base substitution G C downstream_gene_variant BRCA-EU 5 14289640 14289640 single base substitution G C intron_variant BRCA-EU 5 14289640 14289640 single base substitution G C upstream_gene_variant BRCA-EU 5 14289666 14289666 single base substitution A T downstream_gene_variant BRCA-EU 5 14289666 14289666 single base substitution A T intron_variant BRCA-EU 5 14289666 14289666 single base substitution A T upstream_gene_variant BRCA-EU 5 14289751 14289751 single base substitution A T downstream_gene_variant BRCA-EU 5 14289751 14289751 single base substitution A T intron_variant BRCA-EU 5 14289751 14289751 single base substitution A T upstream_gene_variant BRCA-EU 5 14292630 14292630 single base substitution C T downstream_gene_variant BRCA-EU 5 14292630 14292630 single base substitution C T intron_variant BRCA-EU 5 14292630 14292630 single base substitution C T upstream_gene_variant BRCA-EU 5 14294120 14294120 single base substitution A T downstream_gene_variant BRCA-EU 5 14294120 14294120 single base substitution A T intron_variant BRCA-EU 5 14295019 14295019 single base substitution T C downstream_gene_variant BRCA-EU 5 14295019 14295019 single base substitution T C intron_variant BRCA-EU 5 14295639 14295639 single base substitution A G downstream_gene_variant BRCA-EU 5 14295639 14295639 single base substitution A G intron_variant BRCA-EU 5 14296881 14296881 single base substitution A G intron_variant BRCA-EU 5 14297048 14297048 single base substitution C T intron_variant BRCA-EU 5 14297160 14297160 single base substitution C G intron_variant BRCA-EU 5 14297395 14297395 single base substitution C T exon_variant BRCA-EU 5 14297395 14297395 single base substitution C T intron_variant BRCA-EU 5 14297705 14297705 single base substitution T C downstream_gene_variant BRCA-EU 5 14297705 14297705 single base substitution T C intron_variant BRCA-EU 5 14297858 14297858 single base substitution G A downstream_gene_variant BRCA-EU 5 14297858 14297858 single base substitution G A intron_variant BRCA-EU 5 14299328 14299328 single base substitution C G downstream_gene_variant BRCA-EU 5 14299328 14299328 single base substitution C G intron_variant BRCA-EU 5 14299412 14299412 single base substitution C A downstream_gene_variant BRCA-EU 5 14299412 14299412 single base substitution C A intron_variant BRCA-EU 5 14299537 14299537 single base substitution C T downstream_gene_variant BRCA-EU 5 14299537 14299537 single base substitution C T intron_variant BRCA-EU 5 14300149 14300149 single base substitution C G downstream_gene_variant BRCA-EU 5 14300149 14300149 single base substitution C G intron_variant BRCA-EU 5 14301740 14301740 single base substitution A G downstream_gene_variant BRCA-EU 5 14301740 14301740 single base substitution A G intron_variant BRCA-EU 5 14301807 14301807 single base substitution C A downstream_gene_variant BRCA-EU 5 14301807 14301807 single base substitution C A intron_variant BRCA-EU 5 14304146 14304146 single base substitution G A intron_variant BRCA-EU 5 14305346 14305346 single base substitution C A intron_variant BRCA-EU 5 14305525 14305525 single base substitution G T intron_variant BRCA-EU 5 14307012 14307012 single base substitution G A intron_variant BRCA-EU 5 14307524 14307524 single base substitution C A intron_variant BRCA-EU 5 14310102 14310102 single base substitution T C intron_variant BRCA-EU 5 14311040 14311040 single base substitution C T intron_variant BRCA-EU 5 14314249 14314249 single base substitution C T intron_variant BRCA-EU 5 14317779 14317779 single base substitution C T intron_variant BRCA-EU 5 14318922 14318922 single base substitution C A intron_variant BRCA-EU 5 14321213 14321213 single base substitution T C intron_variant BRCA-EU 5 14322476 14322476 single base substitution G A intron_variant BRCA-EU 5 14324394 14324396 deletion of <=200bp TTC - intron_variant BRCA-EU 5 14324829 14324829 single base substitution C G intron_variant BRCA-EU 5 14324941 14324941 deletion of <=200bp C - intron_variant BRCA-EU 5 14328443 14328443 single base substitution T G intron_variant BRCA-EU 5 14328454 14328454 single base substitution C T intron_variant BRCA-EU 5 14328709 14328709 single base substitution C T intron_variant BRCA-EU 5 14330219 14330219 single base substitution A G intron_variant BRCA-EU 5 14331816 14331816 single base substitution C G intron_variant BRCA-EU 5 14335083 14335083 single base substitution G T intron_variant BRCA-EU 5 14335160 14335160 single base substitution G A intron_variant BRCA-EU 5 14335170 14335170 single base substitution C A intron_variant BRCA-EU 5 14335573 14335573 single base substitution C T intron_variant BRCA-EU 5 14336903 14336903 single base substitution C G intron_variant BRCA-EU 5 14338481 14338481 single base substitution G A intron_variant BRCA-EU 5 14338484 14338484 single base substitution C G intron_variant BRCA-EU 5 14339815 14339815 single base substitution G A intron_variant BRCA-EU 5 14339839 14339839 single base substitution A G intron_variant BRCA-EU 5 14340107 14340107 single base substitution C A intron_variant BRCA-EU 5 14340117 14340117 single base substitution G A intron_variant BRCA-EU 5 14342494 14342494 single base substitution A C intron_variant BRCA-EU 5 14343607 14343607 single base substitution G T intron_variant BRCA-EU 5 14343898 14343898 single base substitution C T intron_variant BRCA-EU 5 14345416 14345417 deletion of <=200bp AA - intron_variant BRCA-EU 5 14347609 14347609 single base substitution A G intron_variant BRCA-EU 5 14350733 14350733 single base substitution C G intron_variant BRCA-EU 5 14352111 14352111 single base substitution C G intron_variant BRCA-EU 5 14353227 14353227 single base substitution G T intron_variant BRCA-EU 5 14353620 14353620 single base substitution G A intron_variant BRCA-EU 5 14354943 14354943 single base substitution C T intron_variant BRCA-EU 5 14356814 14356814 single base substitution A T intron_variant BRCA-EU 5 14357288 14357288 single base substitution G C intron_variant BRCA-EU 5 14357694 14357694 single base substitution C T intron_variant BRCA-EU 5 14359021 14359021 single base substitution G T intron_variant BRCA-EU 5 14360004 14360004 single base substitution C T intron_variant BRCA-EU 5 14361990 14361990 single base substitution G A intron_variant BRCA-EU 5 14362006 14362006 single base substitution C T intron_variant BRCA-EU 5 14362052 14362052 single base substitution C A intron_variant BRCA-EU 5 14362771 14362771 single base substitution T C intron_variant BRCA-EU 5 14364556 14364556 single base substitution G A intron_variant BRCA-EU 5 14365139 14365139 single base substitution G C intron_variant BRCA-EU 5 14367781 14367781 single base substitution A T intron_variant BRCA-EU 5 14369369 14369369 single base substitution T G intron_variant BRCA-EU 5 14369409 14369409 single base substitution G A intron_variant BRCA-EU 5 14370525 14370525 single base substitution T C intron_variant BRCA-EU 5 14370863 14370863 single base substitution C T intron_variant BRCA-EU 5 14371215 14371215 single base substitution G C intron_variant BRCA-EU 5 14371755 14371755 single base substitution T C intron_variant BRCA-EU 5 14371941 14371941 single base substitution G C intron_variant BRCA-EU 5 14372467 14372467 single base substitution C T intron_variant BRCA-EU 5 14372506 14372506 single base substitution G A intron_variant BRCA-EU 5 14372588 14372588 single base substitution A G intron_variant BRCA-EU 5 14373633 14373633 single base substitution T G intron_variant BRCA-EU 5 14373718 14373718 single base substitution G A intron_variant BRCA-EU 5 14375143 14375143 single base substitution C G intron_variant BRCA-EU 5 14375298 14375298 single base substitution G T intron_variant BRCA-EU 5 14375766 14375766 single base substitution C A intron_variant BRCA-EU 5 14375846 14375846 single base substitution C T intron_variant BRCA-EU 5 14377363 14377363 single base substitution T G intron_variant BRCA-EU 5 14378277 14378277 single base substitution G A intron_variant BRCA-EU 5 14378827 14378827 single base substitution C G intron_variant BRCA-EU 5 14380143 14380143 single base substitution G A intron_variant BRCA-EU 5 14380396 14380396 single base substitution C T intron_variant BRCA-EU 5 14381438 14381438 single base substitution C G intron_variant BRCA-EU 5 14381511 14381511 single base substitution C T intron_variant BRCA-EU 5 14382475 14382475 single base substitution C G intron_variant BRCA-EU 5 14382475 14382475 single base substitution C G upstream_gene_variant BRCA-EU 5 14382554 14382554 single base substitution G C intron_variant BRCA-EU 5 14382554 14382554 single base substitution G C upstream_gene_variant BRCA-EU 5 14382560 14382560 single base substitution C G intron_variant BRCA-EU 5 14382560 14382560 single base substitution C G upstream_gene_variant BRCA-EU 5 14382853 14382853 single base substitution C T intron_variant BRCA-EU 5 14382853 14382853 single base substitution C T upstream_gene_variant BRCA-EU 5 14382887 14382887 single base substitution T A intron_variant BRCA-EU 5 14382887 14382887 single base substitution T A upstream_gene_variant BRCA-EU 5 14382901 14382901 single base substitution C T intron_variant BRCA-EU 5 14382901 14382901 single base substitution C T upstream_gene_variant BRCA-EU 5 14383844 14383844 single base substitution C G intron_variant BRCA-EU 5 14383844 14383844 single base substitution C G upstream_gene_variant BRCA-EU 5 14384745 14384745 single base substitution C T intron_variant BRCA-EU 5 14384745 14384745 single base substitution C T upstream_gene_variant BRCA-EU 5 14385381 14385381 single base substitution C G intron_variant BRCA-EU 5 14385381 14385381 single base substitution C G upstream_gene_variant BRCA-EU 5 14385810 14385810 single base substitution T C intron_variant BRCA-EU 5 14385810 14385810 single base substitution T C upstream_gene_variant BRCA-EU 5 14386388 14386388 single base substitution G A intron_variant BRCA-EU 5 14386388 14386388 single base substitution G A upstream_gene_variant BRCA-EU 5 14386739 14386739 single base substitution C T intron_variant BRCA-EU 5 14386739 14386739 single base substitution C T upstream_gene_variant BRCA-EU 5 14387175 14387175 single base substitution A G intron_variant BRCA-EU 5 14387175 14387175 single base substitution A G upstream_gene_variant BRCA-EU 5 14388007 14388007 single base substitution A G exon_variant BRCA-EU 5 14388007 14388007 single base substitution A G intron_variant BRCA-EU 5 14388007 14388007 single base substitution A G upstream_gene_variant BRCA-EU 5 14388544 14388544 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 14388544 14388544 deletion of <=200bp T - intron_variant BRCA-EU 5 14388544 14388544 deletion of <=200bp T - upstream_gene_variant BRCA-EU 5 14388566 14388566 single base substitution G A downstream_gene_variant BRCA-EU 5 14388566 14388566 single base substitution G A intron_variant BRCA-EU 5 14388566 14388566 single base substitution G A upstream_gene_variant BRCA-EU 5 14388740 14388740 single base substitution C G downstream_gene_variant BRCA-EU 5 14388740 14388740 single base substitution C G exon_variant BRCA-EU 5 14388740 14388740 single base substitution C G synonymous_variant L1033L 3099C>G BRCA-EU 5 14388740 14388740 single base substitution C G synonymous_variant L1251L 3753C>G BRCA-EU 5 14388740 14388740 single base substitution C G synonymous_variant L1300L 3900C>G BRCA-EU 5 14389153 14389153 single base substitution A G downstream_gene_variant BRCA-EU 5 14389153 14389153 single base substitution A G intron_variant BRCA-EU 5 14389333 14389333 single base substitution G C downstream_gene_variant BRCA-EU 5 14389333 14389333 single base substitution G C intron_variant BRCA-EU 5 14389619 14389619 single base substitution C T downstream_gene_variant BRCA-EU 5 14389619 14389619 single base substitution C T intron_variant BRCA-EU 5 14389699 14389699 single base substitution T G downstream_gene_variant BRCA-EU 5 14389699 14389699 single base substitution T G intron_variant BRCA-EU 5 14390904 14390904 single base substitution C T downstream_gene_variant BRCA-EU 5 14390904 14390904 single base substitution C T intron_variant BRCA-EU 5 14391059 14391059 single base substitution C G downstream_gene_variant BRCA-EU 5 14391059 14391059 single base substitution C G exon_variant BRCA-EU 5 14391059 14391059 single base substitution C G missense_variant S1126C 3377C>G BRCA-EU 5 14391059 14391059 single base substitution C G missense_variant S1344C 4031C>G BRCA-EU 5 14391059 14391059 single base substitution C G missense_variant S1393C 4178C>G BRCA-EU 5 14393418 14393418 single base substitution G T intron_variant BRCA-EU 5 14394853 14394853 single base substitution C T intron_variant BRCA-EU 5 14394853 14394853 single base substitution C T upstream_gene_variant BRCA-EU 5 14395981 14395981 single base substitution C T intron_variant BRCA-EU 5 14395981 14395981 single base substitution C T upstream_gene_variant BRCA-EU 5 14398633 14398633 single base substitution G A downstream_gene_variant BRCA-EU 5 14398633 14398633 single base substitution G A intron_variant BRCA-EU 5 14398633 14398633 single base substitution G A upstream_gene_variant BRCA-EU 5 14401489 14401489 single base substitution G T downstream_gene_variant BRCA-EU 5 14401489 14401489 single base substitution G T intron_variant BRCA-EU 5 14401489 14401489 single base substitution G T upstream_gene_variant BRCA-EU 5 14402549 14402549 single base substitution C T downstream_gene_variant BRCA-EU 5 14402549 14402549 single base substitution C T intron_variant BRCA-EU 5 14402549 14402549 single base substitution C T upstream_gene_variant BRCA-EU 5 14402596 14402596 single base substitution G C downstream_gene_variant BRCA-EU 5 14402596 14402596 single base substitution G C intron_variant BRCA-EU 5 14402596 14402596 single base substitution G C upstream_gene_variant BRCA-EU 5 14405926 14405926 single base substitution G A intron_variant BRCA-EU 5 14405926 14405926 single base substitution G A upstream_gene_variant BRCA-EU 5 14406483 14406485 deletion of <=200bp GAT - exon_variant BRCA-EU 5 14406483 14406485 deletion of <=200bp GAT - intron_variant BRCA-EU 5 14407304 14407304 single base substitution G A intron_variant BRCA-EU 5 14408119 14408119 single base substitution C T intron_variant BRCA-EU 5 14408234 14408234 single base substitution G T intron_variant BRCA-EU 5 14408732 14408732 single base substitution A C intron_variant BRCA-EU 5 14408816 14408816 single base substitution G T intron_variant BRCA-EU 5 14409223 14409223 single base substitution G A intron_variant BRCA-EU 5 14412701 14412701 single base substitution C A intron_variant BRCA-EU 5 14413416 14413416 single base substitution G C intron_variant BRCA-EU 5 14413538 14413538 single base substitution C T intron_variant BRCA-EU 5 14414711 14414711 single base substitution C G intron_variant BRCA-EU 5 14414711 14414711 single base substitution C G upstream_gene_variant BRCA-EU 5 14414765 14414765 single base substitution G A intron_variant BRCA-EU 5 14414765 14414765 single base substitution G A upstream_gene_variant BRCA-EU 5 14415684 14415684 single base substitution G A intron_variant BRCA-EU 5 14415684 14415684 single base substitution G A upstream_gene_variant BRCA-EU 5 14416174 14416174 single base substitution T G intron_variant BRCA-EU 5 14416174 14416174 single base substitution T G upstream_gene_variant BRCA-EU 5 14416479 14416479 single base substitution C T intron_variant BRCA-EU 5 14416479 14416479 single base substitution C T upstream_gene_variant BRCA-EU 5 14417740 14417740 single base substitution C T intron_variant BRCA-EU 5 14417740 14417740 single base substitution C T upstream_gene_variant BRCA-EU 5 14418347 14418347 single base substitution C G intron_variant BRCA-EU 5 14418347 14418347 single base substitution C G upstream_gene_variant BRCA-EU 5 14418356 14418356 insertion of <=200bp - G intron_variant BRCA-EU 5 14418356 14418356 insertion of <=200bp - G upstream_gene_variant BRCA-EU 5 14418576 14418576 single base substitution C G intron_variant BRCA-EU 5 14418576 14418576 single base substitution C G upstream_gene_variant BRCA-EU 5 14419585 14419585 single base substitution G T intron_variant BRCA-EU 5 14419585 14419585 single base substitution G T upstream_gene_variant BRCA-EU 5 14419874 14419874 single base substitution C T intron_variant BRCA-EU 5 14419874 14419874 single base substitution C T upstream_gene_variant BRCA-EU 5 14419990 14419990 single base substitution G A exon_variant BRCA-EU 5 14419990 14419990 single base substitution G A missense_variant R1421Q 4262G>A BRCA-EU 5 14419990 14419990 single base substitution G A missense_variant R1688Q 5063G>A BRCA-EU 5 14420308 14420308 single base substitution G C downstream_gene_variant BRCA-EU 5 14420308 14420308 single base substitution G C intron_variant BRCA-EU 5 14420790 14420790 single base substitution G C downstream_gene_variant BRCA-EU 5 14420790 14420790 single base substitution G C exon_variant BRCA-EU 5 14420790 14420790 single base substitution G C intron_variant BRCA-EU 5 14420977 14420977 single base substitution T C downstream_gene_variant BRCA-EU 5 14420977 14420977 single base substitution T C intron_variant BRCA-EU 5 14421039 14421039 single base substitution T A downstream_gene_variant BRCA-EU 5 14421039 14421039 single base substitution T A intron_variant BRCA-EU 5 14421288 14421288 single base substitution A T downstream_gene_variant BRCA-EU 5 14421288 14421288 single base substitution A T intron_variant BRCA-EU 5 14421583 14421583 single base substitution G A downstream_gene_variant BRCA-EU 5 14421583 14421583 single base substitution G A intron_variant BRCA-EU 5 14422319 14422319 single base substitution C T downstream_gene_variant BRCA-EU 5 14422319 14422319 single base substitution C T intron_variant BRCA-EU 5 14422916 14422916 single base substitution C T downstream_gene_variant BRCA-EU 5 14422916 14422916 single base substitution C T intron_variant BRCA-EU 5 14423191 14423191 single base substitution C A downstream_gene_variant BRCA-EU 5 14423191 14423191 single base substitution C A intron_variant BRCA-EU 5 14424701 14424701 single base substitution A G downstream_gene_variant BRCA-EU 5 14424701 14424701 single base substitution A G intron_variant BRCA-EU 5 14424864 14424864 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 14424864 14424864 deletion of <=200bp T - intron_variant BRCA-EU 5 14425572 14425572 single base substitution C T downstream_gene_variant BRCA-EU 5 14425572 14425572 single base substitution C T intron_variant BRCA-EU 5 14426119 14426119 single base substitution C T intron_variant BRCA-EU 5 14426242 14426242 deletion of <=200bp G - intron_variant BRCA-EU 5 14426478 14426478 single base substitution C T intron_variant BRCA-EU 5 14429972 14429972 single base substitution G C intron_variant BRCA-EU 5 14432277 14432277 single base substitution A C intron_variant BRCA-EU 5 14432928 14432928 single base substitution C T intron_variant BRCA-EU 5 14433416 14433416 single base substitution G A intron_variant BRCA-EU 5 14433835 14433835 single base substitution C G intron_variant BRCA-EU 5 14433883 14433883 single base substitution C G intron_variant BRCA-EU 5 14435906 14435906 single base substitution C T intron_variant BRCA-EU 5 14438109 14438109 single base substitution G A intron_variant BRCA-EU 5 14438109 14438109 single base substitution G A upstream_gene_variant BRCA-EU 5 14440151 14440154 deletion of <=200bp TTTT - intron_variant BRCA-EU 5 14440151 14440154 deletion of <=200bp TTTT - upstream_gene_variant BRCA-EU 5 14440758 14440758 single base substitution G T intron_variant BRCA-EU 5 14440758 14440758 single base substitution G T upstream_gene_variant BRCA-EU 5 14441046 14441046 single base substitution A G exon_variant BRCA-EU 5 14441046 14441046 single base substitution A G intron_variant BRCA-EU 5 14441534 14441534 single base substitution T G intron_variant BRCA-EU 5 14441812 14441812 single base substitution G A intron_variant BRCA-EU 5 14442074 14442074 single base substitution G C intron_variant BRCA-EU 5 14442743 14442743 single base substitution G A intron_variant BRCA-EU 5 14443104 14443104 single base substitution A C intron_variant BRCA-EU 5 14443163 14443163 single base substitution C T intron_variant BRCA-EU 5 14443871 14443871 single base substitution G T intron_variant BRCA-EU 5 14443918 14443918 single base substitution A G intron_variant BRCA-EU 5 14443962 14443962 single base substitution C T intron_variant BRCA-EU 5 14444694 14444697 deletion of <=200bp AAAC - intron_variant BRCA-EU 5 14447403 14447403 deletion of <=200bp T - intron_variant BRCA-EU 5 14449151 14449151 single base substitution T G intron_variant BRCA-EU 5 14451788 14451788 single base substitution G C intron_variant BRCA-EU 5 14452135 14452135 single base substitution C T intron_variant BRCA-EU 5 14452444 14452444 single base substitution G A intron_variant BRCA-EU 5 14453008 14453008 single base substitution T C intron_variant BRCA-EU 5 14453972 14453972 deletion of <=200bp T - intron_variant BRCA-EU 5 14455999 14455999 single base substitution C T intron_variant BRCA-EU 5 14456922 14456922 single base substitution A T intron_variant BRCA-EU 5 14457386 14457386 single base substitution G T intron_variant BRCA-EU 5 14457912 14457912 single base substitution C A intron_variant BRCA-EU 5 14459766 14459766 single base substitution G A intron_variant BRCA-EU 5 14461969 14461969 single base substitution G A intron_variant BRCA-EU 5 14462517 14462517 single base substitution G A intron_variant BRCA-EU 5 14462712 14462712 single base substitution G A intron_variant BRCA-EU 5 14465052 14465052 single base substitution G C intron_variant BRCA-EU 5 14465111 14465111 single base substitution G A intron_variant BRCA-EU 5 14467538 14467538 single base substitution G A downstream_gene_variant BRCA-EU 5 14467538 14467538 single base substitution G A intron_variant BRCA-EU 5 14468076 14468076 single base substitution T A downstream_gene_variant BRCA-EU 5 14468076 14468076 single base substitution T A intron_variant BRCA-EU 5 14469600 14469600 single base substitution C T downstream_gene_variant BRCA-EU 5 14469600 14469600 single base substitution C T intron_variant BRCA-EU 5 14469600 14469600 single base substitution C T upstream_gene_variant BRCA-EU 5 14471460 14471460 single base substitution G C downstream_gene_variant BRCA-EU 5 14471460 14471460 single base substitution G C exon_variant BRCA-EU 5 14471460 14471460 single base substitution G C missense_variant D1666H 4996G>C BRCA-EU 5 14471460 14471460 single base substitution G C missense_variant D1933H 5797G>C BRCA-EU 5 14471460 14471460 single base substitution G C upstream_gene_variant BRCA-EU 5 14471535 14471535 single base substitution G A downstream_gene_variant BRCA-EU 5 14471535 14471535 single base substitution G A exon_variant BRCA-EU 5 14471535 14471535 single base substitution G A missense_variant E1691K 5071G>A BRCA-EU 5 14471535 14471535 single base substitution G A missense_variant E1958K 5872G>A BRCA-EU 5 14471535 14471535 single base substitution G A upstream_gene_variant BRCA-EU 5 14471676 14471676 single base substitution G A intron_variant BRCA-EU 5 14471676 14471676 single base substitution G A upstream_gene_variant BRCA-EU 5 14473315 14473315 single base substitution G T intron_variant BRCA-EU 5 14473315 14473315 single base substitution G T upstream_gene_variant BRCA-EU 5 14473534 14473534 single base substitution G C intron_variant BRCA-EU 5 14473534 14473534 single base substitution G C upstream_gene_variant BRCA-EU 5 14474857 14474857 single base substitution G A intron_variant BRCA-EU 5 14474857 14474857 single base substitution G A upstream_gene_variant BRCA-EU 5 14475570 14475570 single base substitution C T intron_variant BRCA-EU 5 14475570 14475570 single base substitution C T upstream_gene_variant BRCA-EU 5 14476180 14476180 single base substitution G C intron_variant BRCA-EU 5 14476180 14476180 single base substitution G C upstream_gene_variant BRCA-EU 5 14476259 14476259 single base substitution G C intron_variant BRCA-EU 5 14476259 14476259 single base substitution G C upstream_gene_variant BRCA-EU 5 14476265 14476265 single base substitution C G intron_variant BRCA-EU 5 14476265 14476265 single base substitution C G upstream_gene_variant BRCA-EU 5 14476869 14476870 deletion of <=200bp CT - intron_variant BRCA-EU 5 14476869 14476870 deletion of <=200bp CT - upstream_gene_variant BRCA-EU 5 14477905 14477905 single base substitution G T downstream_gene_variant BRCA-EU 5 14477905 14477905 single base substitution G T intron_variant BRCA-EU 5 14477905 14477905 single base substitution G T upstream_gene_variant BRCA-EU 5 14479169 14479169 deletion of <=200bp G - downstream_gene_variant BRCA-EU 5 14479169 14479169 deletion of <=200bp G - intron_variant BRCA-EU 5 14479169 14479169 deletion of <=200bp G - upstream_gene_variant BRCA-EU 5 14479481 14479481 single base substitution G C downstream_gene_variant BRCA-EU 5 14479481 14479481 single base substitution G C intron_variant BRCA-EU 5 14479481 14479481 single base substitution G C upstream_gene_variant BRCA-EU 5 14479524 14479524 single base substitution G T downstream_gene_variant BRCA-EU 5 14479524 14479524 single base substitution G T intron_variant BRCA-EU 5 14479524 14479524 single base substitution G T upstream_gene_variant BRCA-EU 5 14479911 14479911 insertion of <=200bp - T downstream_gene_variant BRCA-EU 5 14479911 14479911 insertion of <=200bp - T intron_variant BRCA-EU 5 14479911 14479911 insertion of <=200bp - T upstream_gene_variant BRCA-EU 5 14480126 14480169 multiple base substitution (>=2bp and <=200bp) GAGGTGGCGGGACAAACTCTGGTGTCAGGAGTGAGTTTGCTGAG GTGGCGGGACAGACTCTGGTGTCAGGAGTGAGTTTGCTGAA downstream_gene_variant BRCA-EU 5 14480126 14480169 multiple base substitution (>=2bp and <=200bp) GAGGTGGCGGGACAAACTCTGGTGTCAGGAGTGAGTTTGCTGAG GTGGCGGGACAGACTCTGGTGTCAGGAGTGAGTTTGCTGAA splice_region_variant BRCA-EU 5 14480126 14480169 multiple base substitution (>=2bp and <=200bp) GAGGTGGCGGGACAAACTCTGGTGTCAGGAGTGAGTTTGCTGAG GTGGCGGGACAGACTCTGGTGTCAGGAGTGAGTTTGCTGAA upstream_gene_variant BRCA-EU 5 14481219 14481219 single base substitution G A downstream_gene_variant BRCA-EU 5 14481219 14481219 single base substitution G A intron_variant BRCA-EU 5 14481219 14481219 single base substitution G A upstream_gene_variant BRCA-EU 5 14481236 14481236 single base substitution A G downstream_gene_variant BRCA-EU 5 14481236 14481236 single base substitution A G intron_variant BRCA-EU 5 14481236 14481236 single base substitution A G upstream_gene_variant BRCA-EU 5 14481649 14481649 single base substitution G A downstream_gene_variant BRCA-EU 5 14481649 14481649 single base substitution G A splice_acceptor_variant BRCA-EU 5 14481649 14481649 single base substitution G A upstream_gene_variant BRCA-EU 5 14483005 14483005 single base substitution A G downstream_gene_variant BRCA-EU 5 14483005 14483005 single base substitution A G intron_variant BRCA-EU 5 14484335 14484335 single base substitution T A downstream_gene_variant BRCA-EU 5 14484335 14484335 single base substitution T A intron_variant BRCA-EU 5 14484335 14484335 single base substitution T A upstream_gene_variant BRCA-EU 5 14485018 14485018 single base substitution C T downstream_gene_variant BRCA-EU 5 14485018 14485018 single base substitution C T intron_variant BRCA-EU 5 14485018 14485018 single base substitution C T upstream_gene_variant BRCA-EU 5 14485755 14485755 single base substitution A G downstream_gene_variant BRCA-EU 5 14485755 14485755 single base substitution A G intron_variant BRCA-EU 5 14485755 14485755 single base substitution A G upstream_gene_variant BRCA-EU 5 14486554 14486554 single base substitution G A downstream_gene_variant BRCA-EU 5 14486554 14486554 single base substitution G A intron_variant BRCA-EU 5 14486554 14486554 single base substitution G A upstream_gene_variant BRCA-EU 5 14486555 14486555 single base substitution A T downstream_gene_variant BRCA-EU 5 14486555 14486555 single base substitution A T intron_variant BRCA-EU 5 14486555 14486555 single base substitution A T upstream_gene_variant BRCA-EU 5 14487192 14487192 single base substitution G A intron_variant BRCA-EU 5 14487192 14487192 single base substitution G A upstream_gene_variant BRCA-EU 5 14487519 14487519 single base substitution G A intron_variant BRCA-EU 5 14487519 14487519 single base substitution G A upstream_gene_variant BRCA-EU 5 14489466 14489466 single base substitution C T downstream_gene_variant BRCA-EU 5 14489466 14489466 single base substitution C T intron_variant BRCA-EU 5 14489466 14489466 single base substitution C T upstream_gene_variant BRCA-EU 5 14492238 14492238 single base substitution G C downstream_gene_variant BRCA-EU 5 14492238 14492238 single base substitution G C intron_variant BRCA-EU 5 14492238 14492238 single base substitution G C upstream_gene_variant BRCA-EU 5 14492283 14492283 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 14492283 14492283 deletion of <=200bp T - intron_variant BRCA-EU 5 14492283 14492283 deletion of <=200bp T - upstream_gene_variant BRCA-EU 5 14493496 14493496 single base substitution C T downstream_gene_variant BRCA-EU 5 14493496 14493496 single base substitution C T intron_variant BRCA-EU 5 14493496 14493496 single base substitution C T upstream_gene_variant BRCA-EU 5 14494713 14494713 single base substitution G C intron_variant BRCA-EU 5 14494713 14494713 single base substitution G C upstream_gene_variant BRCA-EU 5 14495065 14495065 single base substitution G A intron_variant BRCA-EU 5 14495065 14495065 single base substitution G A upstream_gene_variant BRCA-EU 5 14495253 14495253 single base substitution G A intron_variant BRCA-EU 5 14495253 14495253 single base substitution G A upstream_gene_variant BRCA-EU 5 14495268 14495268 single base substitution G T intron_variant BRCA-EU 5 14495268 14495268 single base substitution G T upstream_gene_variant BRCA-EU 5 14495277 14495277 single base substitution G T intron_variant BRCA-EU 5 14495277 14495277 single base substitution G T upstream_gene_variant BRCA-EU 5 14496072 14496072 single base substitution G A intron_variant BRCA-EU 5 14496072 14496072 single base substitution G A upstream_gene_variant BRCA-EU 5 14497629 14497629 single base substitution C A downstream_gene_variant BRCA-EU 5 14497629 14497629 single base substitution C A intron_variant BRCA-EU 5 14497629 14497629 single base substitution C A upstream_gene_variant BRCA-EU 5 14498096 14498096 single base substitution G A downstream_gene_variant BRCA-EU 5 14498096 14498096 single base substitution G A intron_variant BRCA-EU 5 14498096 14498096 single base substitution G A upstream_gene_variant BRCA-EU 5 14498352 14498352 single base substitution C A 3_prime_UTR_variant BRCA-EU 5 14498352 14498352 single base substitution C A downstream_gene_variant BRCA-EU 5 14498352 14498352 single base substitution C A exon_variant BRCA-EU 5 14498352 14498352 single base substitution C A synonymous_variant I233I 699C>A BRCA-EU 5 14498352 14498352 single base substitution C A synonymous_variant I2467I 7401C>A BRCA-EU 5 14498352 14498352 single base substitution C A synonymous_variant I2558I 7674C>A BRCA-EU 5 14498352 14498352 single base substitution C A synonymous_variant I2734I 8202C>A BRCA-EU 5 14498352 14498352 single base substitution C A upstream_gene_variant BRCA-EU 5 14498824 14498824 single base substitution C G downstream_gene_variant BRCA-EU 5 14498824 14498824 single base substitution C G exon_variant BRCA-EU 5 14498824 14498824 single base substitution C G intron_variant BRCA-EU 5 14500273 14500273 single base substitution G C downstream_gene_variant BRCA-EU 5 14500273 14500273 single base substitution G C intron_variant BRCA-EU 5 14500357 14500357 single base substitution C A downstream_gene_variant BRCA-EU 5 14500357 14500357 single base substitution C A intron_variant BRCA-EU 5 14500709 14500709 single base substitution G C downstream_gene_variant BRCA-EU 5 14500709 14500709 single base substitution G C intron_variant BRCA-EU 5 14501090 14501090 single base substitution C G downstream_gene_variant BRCA-EU 5 14501090 14501090 single base substitution C G intron_variant BRCA-EU 5 14503083 14503083 single base substitution G A downstream_gene_variant BRCA-EU 5 14503083 14503083 single base substitution G A intron_variant BRCA-EU 5 14503092 14503092 single base substitution A T downstream_gene_variant BRCA-EU 5 14503092 14503092 single base substitution A T intron_variant BRCA-EU 5 14505035 14505035 single base substitution C T downstream_gene_variant BRCA-EU 5 14505035 14505035 single base substitution C T intron_variant BRCA-EU 5 14507530 14507530 single base substitution A C downstream_gene_variant BRCA-EU 5 14507530 14507530 single base substitution A C intron_variant BRCA-EU 5 14508645 14508645 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 14508645 14508645 single base substitution G A downstream_gene_variant BRCA-EU 5 14508645 14508645 single base substitution G A intron_variant BRCA-EU 5 14510613 14510613 single base substitution G A downstream_gene_variant BRCA-EU 5 14510613 14510613 single base substitution G A intron_variant BRCA-EU 5 14510701 14510701 single base substitution G A downstream_gene_variant BRCA-EU 5 14510701 14510701 single base substitution G A intron_variant BRCA-EU 5 14511328 14511328 single base substitution C A downstream_gene_variant BRCA-EU 5 14511328 14511328 single base substitution C A intron_variant BRCA-EU 5 14511367 14511367 single base substitution T A downstream_gene_variant BRCA-EU 5 14511367 14511367 single base substitution T A intron_variant BRCA-EU 5 14512350 14512350 single base substitution T C downstream_gene_variant BRCA-EU 5 14512350 14512350 single base substitution T C intron_variant BRCA-EU 5 14512630 14512631 deletion of <=200bp AG - downstream_gene_variant BRCA-EU 5 14512630 14512631 deletion of <=200bp AG - intron_variant BRCA-EU 5 14513079 14513079 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 14513079 14513079 deletion of <=200bp T - intron_variant BRCA-EU 5 14513079 14513079 insertion of <=200bp - T downstream_gene_variant BRCA-EU 5 14513079 14513079 insertion of <=200bp - T intron_variant BRCA-EU 5 14514136 14514136 single base substitution G T downstream_gene_variant BRCA-EU 5 14514136 14514136 single base substitution G T intron_variant BRCA-EU 5 14515240 14515240 single base substitution G C downstream_gene_variant BRCA-EU 5 14515240 14515240 single base substitution G C intron_variant BRCA-EU 5 14516040 14516040 single base substitution G C intron_variant BRCA-EU 5 14516089 14516089 single base substitution G C intron_variant BRCA-EU 5 14516769 14516769 single base substitution C T intron_variant BRCA-EU 5 14517503 14517503 single base substitution G T intron_variant BRCA-EU 5 14517689 14517689 single base substitution G C intron_variant BRCA-EU 5 14518039 14518039 single base substitution C A intron_variant BRCA-EU 5 14520288 14520288 single base substitution G A intron_variant BRCA-EU 5 14520547 14520547 single base substitution C T intron_variant BRCA-EU 5 14523405 14523405 single base substitution G C intron_variant BRCA-EU 5 14523879 14523879 single base substitution C G intron_variant BRCA-EU 5 14523925 14523925 single base substitution G C intron_variant BRCA-EU 5 14524009 14524009 single base substitution T C intron_variant BRCA-EU 5 14525141 14525141 single base substitution C T intron_variant BRCA-EU 5 14525254 14525254 single base substitution T C intron_variant BRCA-EU 5 14526119 14526119 single base substitution G A intron_variant BRCA-EU 5 14529054 14529055 deletion of <=200bp GA - intron_variant BRCA-EU 5 14529232 14529248 deletion of <=200bp GTTCCTTATGCTTCCTA - intron_variant BRCA-EU 5 14529261 14529261 single base substitution C G intron_variant BRCA-EU 5 14529514 14529514 single base substitution G C intron_variant BRCA-EU 5 14529952 14529952 single base substitution G T intron_variant BRCA-EU 5 14530616 14530616 single base substitution G A intron_variant BRCA-EU 5 14530640 14530640 single base substitution C T intron_variant BRCA-EU 5 14530731 14530731 single base substitution G A intron_variant BRCA-EU 5 14531628 14531628 single base substitution G C intron_variant BRCA-EU 5 14531836 14531836 single base substitution G T intron_variant BRCA-EU 5 14531850 14531850 single base substitution C G intron_variant BRCA-EU 5 14532666 14532666 single base substitution T G downstream_gene_variant BRCA-EU 5 14532673 14532673 single base substitution G A downstream_gene_variant BRCA-EU 5 14533075 14533075 single base substitution A G downstream_gene_variant BRCA-EU 5 14533680 14533680 single base substitution G T downstream_gene_variant BRCA-EU 5 14536957 14536957 single base substitution C G downstream_gene_variant BRCA-FR 5 14142778 14142778 single base substitution C T upstream_gene_variant BRCA-FR 5 14180082 14180082 single base substitution C T intron_variant BRCA-FR 5 14180082 14180082 single base substitution C T upstream_gene_variant BRCA-FR 5 14181079 14181079 single base substitution A G intron_variant BRCA-FR 5 14181079 14181079 single base substitution A G upstream_gene_variant BRCA-FR 5 14183766 14183766 single base substitution T C intron_variant BRCA-FR 5 14183766 14183766 single base substitution T C upstream_gene_variant BRCA-FR 5 14186496 14186496 single base substitution C T intron_variant BRCA-FR 5 14201248 14201248 single base substitution A T intron_variant BRCA-FR 5 14213092 14213092 single base substitution C T intron_variant BRCA-FR 5 14215224 14215224 single base substitution G A intron_variant BRCA-FR 5 14220333 14220333 single base substitution C G intron_variant BRCA-FR 5 14220480 14220480 single base substitution C A intron_variant BRCA-FR 5 14228780 14228780 single base substitution C G intron_variant BRCA-FR 5 14229299 14229299 single base substitution C G intron_variant BRCA-FR 5 14230873 14230873 single base substitution G A intron_variant BRCA-FR 5 14237088 14237088 single base substitution C T intron_variant BRCA-FR 5 14245629 14245629 single base substitution G C intron_variant BRCA-FR 5 14252325 14252325 single base substitution C T intron_variant BRCA-FR 5 14255540 14255540 single base substitution C G intron_variant BRCA-FR 5 14257406 14257406 single base substitution C G intron_variant BRCA-FR 5 14261878 14261878 single base substitution G C intron_variant BRCA-FR 5 14270508 14270508 single base substitution G C intron_variant BRCA-FR 5 14270951 14270951 single base substitution G A 5_prime_UTR_variant BRCA-FR 5 14270951 14270951 single base substitution G A exon_variant BRCA-FR 5 14270951 14270951 single base substitution G A missense_variant E10K 28G>A BRCA-FR 5 14270951 14270951 single base substitution G A missense_variant E59K 175G>A BRCA-FR 5 14277018 14277018 single base substitution G C intron_variant BRCA-FR 5 14280105 14280105 single base substitution G C intron_variant BRCA-FR 5 14280299 14280299 single base substitution G A intron_variant BRCA-FR 5 14286851 14286851 single base substitution C T intron_variant BRCA-FR 5 14286851 14286851 single base substitution C T upstream_gene_variant BRCA-FR 5 14297048 14297048 single base substitution C T intron_variant BRCA-FR 5 14300149 14300149 single base substitution C G downstream_gene_variant BRCA-FR 5 14300149 14300149 single base substitution C G intron_variant BRCA-FR 5 14300897 14300897 single base substitution C T downstream_gene_variant BRCA-FR 5 14300897 14300897 single base substitution C T intron_variant BRCA-FR 5 14305346 14305346 single base substitution C A intron_variant BRCA-FR 5 14324829 14324829 single base substitution C G intron_variant BRCA-FR 5 14345762 14345762 single base substitution C G intron_variant BRCA-FR 5 14364556 14364556 single base substitution G A intron_variant BRCA-FR 5 14364881 14364881 single base substitution G A exon_variant BRCA-FR 5 14364881 14364881 single base substitution G A missense_variant E637K 1909G>A BRCA-FR 5 14364881 14364881 single base substitution G A missense_variant E855K 2563G>A BRCA-FR 5 14364881 14364881 single base substitution G A missense_variant E904K 2710G>A BRCA-FR 5 14373718 14373718 single base substitution G A intron_variant BRCA-FR 5 14375143 14375143 single base substitution C G intron_variant BRCA-FR 5 14375766 14375766 single base substitution C A intron_variant BRCA-FR 5 14380946 14380946 single base substitution A C intron_variant BRCA-FR 5 14384745 14384745 single base substitution C T intron_variant BRCA-FR 5 14384745 14384745 single base substitution C T upstream_gene_variant BRCA-FR 5 14385381 14385381 single base substitution C G intron_variant BRCA-FR 5 14385381 14385381 single base substitution C G upstream_gene_variant BRCA-FR 5 14388740 14388740 single base substitution C G downstream_gene_variant BRCA-FR 5 14388740 14388740 single base substitution C G exon_variant BRCA-FR 5 14388740 14388740 single base substitution C G synonymous_variant L1033L 3099C>G BRCA-FR 5 14388740 14388740 single base substitution C G synonymous_variant L1251L 3753C>G BRCA-FR 5 14388740 14388740 single base substitution C G synonymous_variant L1300L 3900C>G BRCA-FR 5 14389619 14389619 single base substitution C T downstream_gene_variant BRCA-FR 5 14389619 14389619 single base substitution C T intron_variant BRCA-FR 5 14394853 14394853 single base substitution C T intron_variant BRCA-FR 5 14394853 14394853 single base substitution C T upstream_gene_variant BRCA-FR 5 14408119 14408119 single base substitution C T intron_variant BRCA-FR 5 14408816 14408816 single base substitution G T intron_variant BRCA-FR 5 14415167 14415167 single base substitution G A intron_variant BRCA-FR 5 14415167 14415167 single base substitution G A upstream_gene_variant BRCA-FR 5 14415684 14415684 single base substitution G A intron_variant BRCA-FR 5 14415684 14415684 single base substitution G A upstream_gene_variant BRCA-FR 5 14417740 14417740 single base substitution C T intron_variant BRCA-FR 5 14417740 14417740 single base substitution C T upstream_gene_variant BRCA-FR 5 14418576 14418576 single base substitution C G intron_variant BRCA-FR 5 14418576 14418576 single base substitution C G upstream_gene_variant BRCA-FR 5 14421583 14421583 single base substitution G A downstream_gene_variant BRCA-FR 5 14421583 14421583 single base substitution G A intron_variant BRCA-FR 5 14423191 14423191 single base substitution C A downstream_gene_variant BRCA-FR 5 14423191 14423191 single base substitution C A intron_variant BRCA-FR 5 14426478 14426478 single base substitution C T intron_variant BRCA-FR 5 14429972 14429972 single base substitution G C intron_variant BRCA-FR 5 14440128 14440128 single base substitution G A intron_variant BRCA-FR 5 14440128 14440128 single base substitution G A upstream_gene_variant BRCA-FR 5 14446739 14446739 single base substitution C T intron_variant BRCA-FR 5 14449913 14449913 single base substitution G A intron_variant BRCA-FR 5 14471460 14471460 single base substitution G C downstream_gene_variant BRCA-FR 5 14471460 14471460 single base substitution G C exon_variant BRCA-FR 5 14471460 14471460 single base substitution G C missense_variant D1666H 4996G>C BRCA-FR 5 14471460 14471460 single base substitution G C missense_variant D1933H 5797G>C BRCA-FR 5 14471460 14471460 single base substitution G C upstream_gene_variant BRCA-FR 5 14471535 14471535 single base substitution G A downstream_gene_variant BRCA-FR 5 14471535 14471535 single base substitution G A exon_variant BRCA-FR 5 14471535 14471535 single base substitution G A missense_variant E1691K 5071G>A BRCA-FR 5 14471535 14471535 single base substitution G A missense_variant E1958K 5872G>A BRCA-FR 5 14471535 14471535 single base substitution G A upstream_gene_variant BRCA-FR 5 14471783 14471783 single base substitution G A intron_variant BRCA-FR 5 14471783 14471783 single base substitution G A upstream_gene_variant BRCA-FR 5 14473908 14473908 single base substitution G T intron_variant BRCA-FR 5 14473908 14473908 single base substitution G T upstream_gene_variant BRCA-FR 5 14474857 14474857 single base substitution G A intron_variant BRCA-FR 5 14474857 14474857 single base substitution G A upstream_gene_variant BRCA-FR 5 14476259 14476259 single base substitution G C intron_variant BRCA-FR 5 14476259 14476259 single base substitution G C upstream_gene_variant BRCA-FR 5 14477905 14477905 single base substitution G T downstream_gene_variant BRCA-FR 5 14477905 14477905 single base substitution G T intron_variant BRCA-FR 5 14477905 14477905 single base substitution G T upstream_gene_variant BRCA-FR 5 14479481 14479481 single base substitution G C downstream_gene_variant BRCA-FR 5 14479481 14479481 single base substitution G C intron_variant BRCA-FR 5 14479481 14479481 single base substitution G C upstream_gene_variant BRCA-FR 5 14483005 14483005 single base substitution A G downstream_gene_variant BRCA-FR 5 14483005 14483005 single base substitution A G intron_variant BRCA-FR 5 14486554 14486554 single base substitution G A downstream_gene_variant BRCA-FR 5 14486554 14486554 single base substitution G A intron_variant BRCA-FR 5 14486554 14486554 single base substitution G A upstream_gene_variant BRCA-FR 5 14498824 14498824 single base substitution C G downstream_gene_variant BRCA-FR 5 14498824 14498824 single base substitution C G exon_variant BRCA-FR 5 14498824 14498824 single base substitution C G intron_variant BRCA-FR 5 14513983 14513983 single base substitution G C downstream_gene_variant BRCA-FR 5 14513983 14513983 single base substitution G C intron_variant BRCA-FR 5 14523879 14523879 single base substitution C G intron_variant BRCA-FR 5 14529952 14529952 single base substitution G T intron_variant BRCA-FR 5 14533075 14533075 single base substitution A G downstream_gene_variant BRCA-KR 5 14368948 14368948 single base substitution G C exon_variant BRCA-KR 5 14368948 14368948 single base substitution G C missense_variant K1002N 3006G>C BRCA-KR 5 14368948 14368948 single base substitution G C missense_variant K735N 2205G>C BRCA-KR 5 14368948 14368948 single base substitution G C missense_variant K953N 2859G>C BRCA-UK 5 14153705 14153705 single base substitution G A intron_variant BRCA-UK 5 14162289 14162289 single base substitution G A intron_variant BRCA-UK 5 14171675 14171675 single base substitution C G intron_variant BRCA-UK 5 14210636 14210636 single base substitution A G intron_variant BRCA-UK 5 14230713 14230713 single base substitution T C intron_variant BRCA-UK 5 14257881 14257881 single base substitution C T intron_variant BRCA-UK 5 14266173 14266173 single base substitution C T intron_variant BRCA-UK 5 14266174 14266174 single base substitution C T intron_variant BRCA-UK 5 14291136 14291136 single base substitution G A downstream_gene_variant BRCA-UK 5 14291136 14291136 single base substitution G A exon_variant BRCA-UK 5 14291136 14291136 single base substitution G A synonymous_variant Q17Q 51G>A BRCA-UK 5 14291136 14291136 single base substitution G A synonymous_variant Q235Q 705G>A BRCA-UK 5 14291136 14291136 single base substitution G A synonymous_variant Q284Q 852G>A BRCA-UK 5 14291136 14291136 single base substitution G A upstream_gene_variant BRCA-UK 5 14293157 14293157 single base substitution C G downstream_gene_variant BRCA-UK 5 14293157 14293157 single base substitution C G exon_variant BRCA-UK 5 14293157 14293157 single base substitution C G missense_variant L315V 943C>G BRCA-UK 5 14293157 14293157 single base substitution C G missense_variant L364V 1090C>G BRCA-UK 5 14293157 14293157 single base substitution C G missense_variant L97V 289C>G BRCA-UK 5 14297858 14297858 single base substitution G A downstream_gene_variant BRCA-UK 5 14297858 14297858 single base substitution G A intron_variant BRCA-UK 5 14342494 14342494 single base substitution A C intron_variant BRCA-UK 5 14380143 14380143 single base substitution G A intron_variant BRCA-UK 5 14382072 14382072 single base substitution C T intron_variant BRCA-UK 5 14405926 14405926 single base substitution G A intron_variant BRCA-UK 5 14405926 14405926 single base substitution G A upstream_gene_variant BRCA-UK 5 14426119 14426119 single base substitution C T intron_variant BRCA-UK 5 14438852 14438852 single base substitution C T intron_variant BRCA-UK 5 14438852 14438852 single base substitution C T upstream_gene_variant BRCA-UK 5 14459766 14459766 single base substitution G A intron_variant BRCA-UK 5 14465052 14465052 single base substitution G C intron_variant BRCA-UK 5 14479911 14479911 insertion of <=200bp - T downstream_gene_variant BRCA-UK 5 14479911 14479911 insertion of <=200bp - T intron_variant BRCA-UK 5 14479911 14479911 insertion of <=200bp - T upstream_gene_variant BRCA-UK 5 14487187 14487187 single base substitution G C intron_variant BRCA-UK 5 14487187 14487187 single base substitution G C upstream_gene_variant BRCA-UK 5 14497110 14497110 single base substitution A G 3_prime_UTR_variant BRCA-UK 5 14497110 14497110 single base substitution A G downstream_gene_variant BRCA-UK 5 14497110 14497110 single base substitution A G missense_variant N167S 500A>G BRCA-UK 5 14497110 14497110 single base substitution A G missense_variant N2401S 7202A>G BRCA-UK 5 14497110 14497110 single base substitution A G missense_variant N2492S 7475A>G BRCA-UK 5 14497110 14497110 single base substitution A G missense_variant N2668S 8003A>G BRCA-UK 5 14497110 14497110 single base substitution A G upstream_gene_variant BRCA-UK 5 14497629 14497629 single base substitution C A downstream_gene_variant BRCA-UK 5 14497629 14497629 single base substitution C A intron_variant BRCA-UK 5 14497629 14497629 single base substitution C A upstream_gene_variant BRCA-UK 5 14508220 14508220 single base substitution G A 3_prime_UTR_variant BRCA-UK 5 14508220 14508220 single base substitution G A downstream_gene_variant BRCA-UK 5 14508220 14508220 single base substitution G A exon_variant BRCA-UK 5 14508220 14508220 single base substitution G A intron_variant BRCA-UK 5 14508220 14508220 single base substitution G A missense_variant D2819N 8455G>A BRCA-UK 5 14508220 14508220 single base substitution G A missense_variant D2995N 8983G>A BRCA-UK 5 14508220 14508220 single base substitution G A missense_variant D494N 1480G>A BRCA-UK 5 14530731 14530731 single base substitution G A intron_variant BRCA-US 5 14287160 14287160 single base substitution A G exon_variant BRCA-US 5 14287160 14287160 single base substitution A G synonymous_variant K127K 381A>G BRCA-US 5 14287160 14287160 single base substitution A G synonymous_variant K176K 528A>G BRCA-US 5 14287160 14287160 single base substitution A G upstream_gene_variant BRCA-US 5 14290896 14290896 single base substitution C T downstream_gene_variant BRCA-US 5 14290896 14290896 single base substitution C T exon_variant BRCA-US 5 14290896 14290896 single base substitution C T synonymous_variant G155G 465C>T BRCA-US 5 14290896 14290896 single base substitution C T synonymous_variant G204G 612C>T BRCA-US 5 14290896 14290896 single base substitution C T upstream_gene_variant BRCA-US 5 14290927 14290927 single base substitution G A downstream_gene_variant BRCA-US 5 14290927 14290927 single base substitution G A exon_variant BRCA-US 5 14290927 14290927 single base substitution G A missense_variant E166K 496G>A BRCA-US 5 14290927 14290927 single base substitution G A missense_variant E215K 643G>A BRCA-US 5 14290927 14290927 single base substitution G A upstream_gene_variant BRCA-US 5 14358322 14358322 single base substitution G T exon_variant BRCA-US 5 14358322 14358322 single base substitution G T synonymous_variant L427L 1281G>T BRCA-US 5 14358322 14358322 single base substitution G T synonymous_variant L645L 1935G>T BRCA-US 5 14358322 14358322 single base substitution G T synonymous_variant L694L 2082G>T BRCA-US 5 14358332 14358332 single base substitution G A exon_variant BRCA-US 5 14358332 14358332 single base substitution G A missense_variant V431M 1291G>A BRCA-US 5 14358332 14358332 single base substitution G A missense_variant V649M 1945G>A BRCA-US 5 14358332 14358332 single base substitution G A missense_variant V698M 2092G>A BRCA-US 5 14358362 14358362 single base substitution G C exon_variant BRCA-US 5 14358362 14358362 single base substitution G C missense_variant D441H 1321G>C BRCA-US 5 14358362 14358362 single base substitution G C missense_variant D659H 1975G>C BRCA-US 5 14358362 14358362 single base substitution G C missense_variant D708H 2122G>C BRCA-US 5 14358426 14358426 single base substitution A G exon_variant BRCA-US 5 14358426 14358426 single base substitution A G missense_variant K462R 1385A>G BRCA-US 5 14358426 14358426 single base substitution A G missense_variant K680R 2039A>G BRCA-US 5 14358426 14358426 single base substitution A G missense_variant K729R 2186A>G BRCA-US 5 14363873 14363873 single base substitution G A exon_variant BRCA-US 5 14363873 14363873 single base substitution G A synonymous_variant E541E 1623G>A BRCA-US 5 14363873 14363873 single base substitution G A synonymous_variant E759E 2277G>A BRCA-US 5 14363873 14363873 single base substitution G A synonymous_variant E808E 2424G>A BRCA-US 5 14399070 14399070 single base substitution G A downstream_gene_variant BRCA-US 5 14399070 14399070 single base substitution G A exon_variant BRCA-US 5 14399070 14399070 single base substitution G A missense_variant R1235Q 3704G>A BRCA-US 5 14399070 14399070 single base substitution G A missense_variant R1453Q 4358G>A BRCA-US 5 14399070 14399070 single base substitution G A missense_variant R1502Q 4505G>A BRCA-US 5 14399070 14399070 single base substitution G A upstream_gene_variant BRCA-US 5 14399162 14399162 single base substitution T C downstream_gene_variant BRCA-US 5 14399162 14399162 single base substitution T C exon_variant BRCA-US 5 14399162 14399162 single base substitution T C missense_variant Y1266H 3796T>C BRCA-US 5 14399162 14399162 single base substitution T C missense_variant Y1484H 4450T>C BRCA-US 5 14399162 14399162 single base substitution T C missense_variant Y1533H 4597T>C BRCA-US 5 14399176 14399176 single base substitution G A downstream_gene_variant BRCA-US 5 14399176 14399176 single base substitution G A exon_variant BRCA-US 5 14399176 14399176 single base substitution G A synonymous_variant L1270L 3810G>A BRCA-US 5 14399176 14399176 single base substitution G A synonymous_variant L1488L 4464G>A BRCA-US 5 14399176 14399176 single base substitution G A synonymous_variant L1537L 4611G>A BRCA-US 5 14465790 14465790 single base substitution C G exon_variant BRCA-US 5 14465790 14465790 single base substitution C G intron_variant BRCA-US 5 14472760 14472760 single base substitution T C exon_variant BRCA-US 5 14472760 14472760 single base substitution T C missense_variant V1724A 5171T>C BRCA-US 5 14472760 14472760 single base substitution T C missense_variant V1991A 5972T>C BRCA-US 5 14472760 14472760 single base substitution T C upstream_gene_variant BRCA-US 5 14480117 14480117 single base substitution G A downstream_gene_variant BRCA-US 5 14480117 14480117 single base substitution G A exon_variant BRCA-US 5 14480117 14480117 single base substitution G A synonymous_variant L1844L 5532G>A BRCA-US 5 14480117 14480117 single base substitution G A synonymous_variant L2111L 6333G>A BRCA-US 5 14480117 14480117 single base substitution G A upstream_gene_variant BRCA-US 5 14481719 14481719 single base substitution G T downstream_gene_variant BRCA-US 5 14481719 14481719 single base substitution G T exon_variant BRCA-US 5 14481719 14481719 single base substitution G T stop_gained G1886* 5656G>T BRCA-US 5 14481719 14481719 single base substitution G T stop_gained G2153* 6457G>T BRCA-US 5 14481719 14481719 single base substitution G T upstream_gene_variant BRCA-US 5 14482735 14482735 single base substitution C A downstream_gene_variant BRCA-US 5 14482735 14482735 single base substitution C A exon_variant BRCA-US 5 14482735 14482735 single base substitution C A missense_variant F1903L 5709C>A BRCA-US 5 14482735 14482735 single base substitution C A missense_variant F2170L 6510C>A BRCA-US 5 14492843 14492843 single base substitution C G 3_prime_UTR_variant BRCA-US 5 14492843 14492843 single base substitution C G downstream_gene_variant BRCA-US 5 14492843 14492843 single base substitution C G exon_variant BRCA-US 5 14492843 14492843 single base substitution C G synonymous_variant P2333P 6999C>G BRCA-US 5 14492843 14492843 single base substitution C G synonymous_variant P2424P 7272C>G BRCA-US 5 14492843 14492843 single base substitution C G synonymous_variant P2600P 7800C>G BRCA-US 5 14492843 14492843 single base substitution C G synonymous_variant P99P 297C>G BRCA-US 5 14498736 14498736 single base substitution C A 3_prime_UTR_variant BRCA-US 5 14498736 14498736 single base substitution C A downstream_gene_variant BRCA-US 5 14498736 14498736 single base substitution C A exon_variant BRCA-US 5 14498736 14498736 single base substitution C A missense_variant S2506R 7518C>A BRCA-US 5 14498736 14498736 single base substitution C A missense_variant S2597R 7791C>A BRCA-US 5 14498736 14498736 single base substitution C A missense_variant S272R 816C>A BRCA-US 5 14498736 14498736 single base substitution C A missense_variant S2773R 8319C>A BRCA-US 5 14504592 14504592 single base substitution C T 3_prime_UTR_variant BRCA-US 5 14504592 14504592 single base substitution C T exon_variant BRCA-US 5 14504592 14504592 single base substitution C T intron_variant BRCA-US 5 14504592 14504592 single base substitution C T synonymous_variant R2658R 7974C>T BRCA-US 5 14504592 14504592 single base substitution C T synonymous_variant R2834R 8502C>T BRCA-US 5 14504592 14504592 single base substitution C T synonymous_variant R333R 999C>T BRCA-US 5 14504677 14504677 single base substitution A C 3_prime_UTR_variant BRCA-US 5 14504677 14504677 single base substitution A C exon_variant BRCA-US 5 14504677 14504677 single base substitution A C intron_variant BRCA-US 5 14504677 14504677 single base substitution A C missense_variant T2687P 8059A>C BRCA-US 5 14504677 14504677 single base substitution A C missense_variant T2863P 8587A>C BRCA-US 5 14504677 14504677 single base substitution A C missense_variant T362P 1084A>C BRCA-US 5 14507247 14507247 single base substitution C T 3_prime_UTR_variant BRCA-US 5 14507247 14507247 single base substitution C T downstream_gene_variant BRCA-US 5 14507247 14507247 single base substitution C T intron_variant BRCA-US 5 14507247 14507247 single base substitution C T missense_variant L2701F 8101C>T BRCA-US 5 14507247 14507247 single base substitution C T missense_variant L2877F 8629C>T BRCA-US 5 14507247 14507247 single base substitution C T missense_variant L376F 1126C>T BRCA-US 5 14507272 14507272 single base substitution G A 3_prime_UTR_variant BRCA-US 5 14507272 14507272 single base substitution G A downstream_gene_variant BRCA-US 5 14507272 14507272 single base substitution G A intron_variant BRCA-US 5 14507272 14507272 single base substitution G A missense_variant G2709E 8126G>A BRCA-US 5 14507272 14507272 single base substitution G A missense_variant G2885E 8654G>A BRCA-US 5 14507272 14507272 single base substitution G A missense_variant G384E 1151G>A BTCA-JP 5 14271069 14271069 single base substitution C T intron_variant BTCA-JP 5 14287313 14287313 single base substitution T G downstream_gene_variant BTCA-JP 5 14287313 14287313 single base substitution T G intron_variant BTCA-JP 5 14287313 14287313 single base substitution T G upstream_gene_variant BTCA-JP 5 14290918 14290918 single base substitution G T downstream_gene_variant BTCA-JP 5 14290918 14290918 single base substitution G T exon_variant BTCA-JP 5 14290918 14290918 single base substitution G T stop_gained E163* 487G>T BTCA-JP 5 14290918 14290918 single base substitution G T stop_gained E212* 634G>T BTCA-JP 5 14290918 14290918 single base substitution G T upstream_gene_variant BTCA-JP 5 14297068 14297068 single base substitution G A intron_variant BTCA-JP 5 14304626 14304626 single base substitution A G exon_variant BTCA-JP 5 14304626 14304626 single base substitution A G synonymous_variant S208S 624A>G BTCA-JP 5 14304626 14304626 single base substitution A G synonymous_variant S426S 1278A>G BTCA-JP 5 14304626 14304626 single base substitution A G synonymous_variant S475S 1425A>G BTCA-JP 5 14331008 14331008 single base substitution A G missense_variant Q351R 1052A>G BTCA-JP 5 14331008 14331008 single base substitution A G missense_variant Q569R 1706A>G BTCA-JP 5 14331008 14331008 single base substitution A G missense_variant Q618R 1853A>G BTCA-JP 5 14331008 14331008 single base substitution A G splice_region_variant BTCA-JP 5 14358266 14358266 deletion of <=200bp C - intron_variant BTCA-JP 5 14363813 14363813 single base substitution T A intron_variant BTCA-JP 5 14363888 14363888 single base substitution G T exon_variant BTCA-JP 5 14363888 14363888 single base substitution G T missense_variant M546I 1638G>T BTCA-JP 5 14363888 14363888 single base substitution G T missense_variant M764I 2292G>T BTCA-JP 5 14363888 14363888 single base substitution G T missense_variant M813I 2439G>T BTCA-JP 5 14366853 14366853 single base substitution G A intron_variant BTCA-JP 5 14374173 14374173 deletion of <=200bp T - intron_variant BTCA-JP 5 14389538 14389538 single base substitution G A downstream_gene_variant BTCA-JP 5 14389538 14389538 single base substitution G A intron_variant BTCA-JP 5 14397234 14397234 single base substitution A G exon_variant BTCA-JP 5 14397234 14397234 single base substitution A G missense_variant N1198S 3593A>G BTCA-JP 5 14397234 14397234 single base substitution A G missense_variant N1416S 4247A>G BTCA-JP 5 14397234 14397234 single base substitution A G missense_variant N1465S 4394A>G BTCA-JP 5 14397234 14397234 single base substitution A G upstream_gene_variant BTCA-JP 5 14419965 14419965 single base substitution G A exon_variant BTCA-JP 5 14419965 14419965 single base substitution G A missense_variant G1413S 4237G>A BTCA-JP 5 14419965 14419965 single base substitution G A missense_variant G1680S 5038G>A BTCA-JP 5 14461215 14461215 single base substitution C T exon_variant BTCA-JP 5 14461215 14461215 single base substitution C T missense_variant P1497L 4490C>T BTCA-JP 5 14461215 14461215 single base substitution C T missense_variant P1764L 5291C>T BTCA-JP 5 14461244 14461244 single base substitution C T exon_variant BTCA-JP 5 14461244 14461244 single base substitution C T missense_variant R1507C 4519C>T BTCA-JP 5 14461244 14461244 single base substitution C T missense_variant R1774C 5320C>T BTCA-JP 5 14461365 14461365 single base substitution C T exon_variant BTCA-JP 5 14461365 14461365 single base substitution C T missense_variant S1547L 4640C>T BTCA-JP 5 14461365 14461365 single base substitution C T missense_variant S1814L 5441C>T BTCA-JP 5 14472744 14472744 single base substitution C T exon_variant BTCA-JP 5 14472744 14472744 single base substitution C T missense_variant R1719W 5155C>T BTCA-JP 5 14472744 14472744 single base substitution C T missense_variant R1986W 5956C>T BTCA-JP 5 14472744 14472744 single base substitution C T upstream_gene_variant BTCA-JP 5 14479976 14479976 single base substitution T A downstream_gene_variant BTCA-JP 5 14479976 14479976 single base substitution T A intron_variant BTCA-JP 5 14479976 14479976 single base substitution T A upstream_gene_variant BTCA-JP 5 14481875 14481875 single base substitution A T downstream_gene_variant BTCA-JP 5 14481875 14481875 single base substitution A T exon_variant BTCA-JP 5 14481875 14481875 single base substitution A T intron_variant BTCA-JP 5 14481875 14481875 single base substitution A T upstream_gene_variant BTCA-JP 5 14482589 14482589 single base substitution A T downstream_gene_variant BTCA-JP 5 14482589 14482589 single base substitution A T exon_variant BTCA-JP 5 14482589 14482589 single base substitution A T intron_variant BTCA-JP 5 14487781 14487781 deletion of <=200bp C - exon_variant BTCA-JP 5 14487781 14487781 deletion of <=200bp C - frameshift_variant H2081 BTCA-JP 5 14487781 14487781 deletion of <=200bp C - frameshift_variant H2348 BTCA-JP 5 14487781 14487781 deletion of <=200bp C - upstream_gene_variant BTCA-JP 5 14487976 14487976 single base substitution G T downstream_gene_variant BTCA-JP 5 14487976 14487976 single base substitution G T exon_variant BTCA-JP 5 14487976 14487976 single base substitution G T intron_variant BTCA-JP 5 14487976 14487976 single base substitution G T missense_variant K2146N 6438G>T BTCA-JP 5 14487976 14487976 single base substitution G T missense_variant K2413N 7239G>T BTCA-JP 5 14487976 14487976 single base substitution G T upstream_gene_variant BTCA-JP 5 14498623 14498623 single base substitution C T downstream_gene_variant BTCA-JP 5 14498623 14498623 single base substitution C T intron_variant BTCA-JP 5 14498623 14498623 single base substitution C T splice_region_variant BTCA-JP 5 14498623 14498623 single base substitution C T upstream_gene_variant BTCA-JP 5 14508315 14508315 single base substitution C T 3_prime_UTR_variant BTCA-JP 5 14508315 14508315 single base substitution C T downstream_gene_variant BTCA-JP 5 14508315 14508315 single base substitution C T exon_variant BTCA-JP 5 14508315 14508315 single base substitution C T intron_variant BTCA-JP 5 14508315 14508315 single base substitution C T synonymous_variant F2850F 8550C>T BTCA-JP 5 14508315 14508315 single base substitution C T synonymous_variant F3026F 9078C>T BTCA-JP 5 14508315 14508315 single base substitution C T synonymous_variant F525F 1575C>T BTCA-JP 5 14508648 14508648 single base substitution A G 3_prime_UTR_variant BTCA-JP 5 14508648 14508648 single base substitution A G downstream_gene_variant BTCA-JP 5 14508648 14508648 single base substitution A G intron_variant CESC-US 5 14290885 14290885 single base substitution G A downstream_gene_variant CESC-US 5 14290885 14290885 single base substitution G A exon_variant CESC-US 5 14290885 14290885 single base substitution G A missense_variant E152K 454G>A CESC-US 5 14290885 14290885 single base substitution G A missense_variant E201K 601G>A CESC-US 5 14290885 14290885 single base substitution G A upstream_gene_variant CESC-US 5 14291265 14291265 single base substitution G C downstream_gene_variant CESC-US 5 14291265 14291265 single base substitution G C exon_variant CESC-US 5 14291265 14291265 single base substitution G C missense_variant Q278H 834G>C CESC-US 5 14291265 14291265 single base substitution G C missense_variant Q327H 981G>C CESC-US 5 14291265 14291265 single base substitution G C missense_variant Q60H 180G>C CESC-US 5 14291265 14291265 single base substitution G C upstream_gene_variant CESC-US 5 14316834 14316834 single base substitution C T exon_variant CESC-US 5 14316834 14316834 single base substitution C T synonymous_variant F304F 912C>T CESC-US 5 14316834 14316834 single base substitution C T synonymous_variant F522F 1566C>T CESC-US 5 14316834 14316834 single base substitution C T synonymous_variant F571F 1713C>T CESC-US 5 14420638 14420638 insertion of <=200bp - T downstream_gene_variant CESC-US 5 14420638 14420638 insertion of <=200bp - T exon_variant CESC-US 5 14420638 14420638 insertion of <=200bp - T intron_variant CESC-US 5 14461388 14461388 insertion of <=200bp - CGGC exon_variant CESC-US 5 14461388 14461388 insertion of <=200bp - CGGC frameshift_variant A1555RR? CESC-US 5 14461388 14461388 insertion of <=200bp - CGGC frameshift_variant A1822RR? CESC-US 5 14462916 14462916 single base substitution C T exon_variant CESC-US 5 14462916 14462916 single base substitution C T missense_variant S1583L 4748C>T CESC-US 5 14462916 14462916 single base substitution C T missense_variant S1850L 5549C>T CESC-US 5 14477003 14477003 single base substitution C G missense_variant D1761E 5283C>G CESC-US 5 14477003 14477003 single base substitution C G missense_variant D2028E 6084C>G CESC-US 5 14477003 14477003 single base substitution C G splice_region_variant CESC-US 5 14477003 14477003 single base substitution C G upstream_gene_variant CESC-US 5 14485296 14485296 single base substitution G A downstream_gene_variant CESC-US 5 14485296 14485296 single base substitution G A exon_variant CESC-US 5 14485296 14485296 single base substitution G A missense_variant R1992Q 5975G>A CESC-US 5 14485296 14485296 single base substitution G A missense_variant R2259Q 6776G>A CESC-US 5 14485296 14485296 single base substitution G A upstream_gene_variant CESC-US 5 14507291 14507291 single base substitution G C 3_prime_UTR_variant CESC-US 5 14507291 14507291 single base substitution G C downstream_gene_variant CESC-US 5 14507291 14507291 single base substitution G C intron_variant CESC-US 5 14507291 14507291 single base substitution G C missense_variant K2715N 8145G>C CESC-US 5 14507291 14507291 single base substitution G C missense_variant K2891N 8673G>C CESC-US 5 14507291 14507291 single base substitution G C missense_variant K390N 1170G>C CLLE-ES 5 14153857 14153857 single base substitution C A intron_variant CLLE-ES 5 14156904 14156904 single base substitution C T intron_variant CLLE-ES 5 14181011 14181011 single base substitution T C intron_variant CLLE-ES 5 14181011 14181011 single base substitution T C upstream_gene_variant CLLE-ES 5 14187461 14187461 single base substitution T C intron_variant CLLE-ES 5 14212814 14212814 single base substitution C T intron_variant CLLE-ES 5 14218653 14218653 single base substitution A G intron_variant CLLE-ES 5 14222800 14222800 single base substitution C A intron_variant CLLE-ES 5 14238550 14238550 single base substitution A G intron_variant CLLE-ES 5 14247896 14247896 single base substitution G A intron_variant CLLE-ES 5 14258664 14258664 single base substitution A G intron_variant CLLE-ES 5 14277800 14277800 single base substitution C T intron_variant CLLE-ES 5 14326369 14326369 single base substitution T G intron_variant CLLE-ES 5 14326468 14326468 single base substitution C T intron_variant CLLE-ES 5 14336451 14336451 single base substitution T A intron_variant CLLE-ES 5 14341041 14341041 single base substitution A T intron_variant CLLE-ES 5 14357124 14357124 single base substitution C T intron_variant CLLE-ES 5 14361183 14361183 single base substitution G A intron_variant CLLE-ES 5 14372360 14372360 single base substitution T G intron_variant CLLE-ES 5 14404928 14404928 single base substitution T A intron_variant CLLE-ES 5 14404928 14404928 single base substitution T A upstream_gene_variant CLLE-ES 5 14442992 14442992 single base substitution T A intron_variant CLLE-ES 5 14445683 14445683 single base substitution A G intron_variant CLLE-ES 5 14447166 14447166 single base substitution C A intron_variant CLLE-ES 5 14466840 14466840 single base substitution C T downstream_gene_variant CLLE-ES 5 14466840 14466840 single base substitution C T intron_variant CLLE-ES 5 14472733 14472733 single base substitution G A exon_variant CLLE-ES 5 14472733 14472733 single base substitution G A missense_variant R1715H 5144G>A CLLE-ES 5 14472733 14472733 single base substitution G A missense_variant R1982H 5945G>A CLLE-ES 5 14472733 14472733 single base substitution G A upstream_gene_variant CLLE-ES 5 14482875 14482875 single base substitution G A downstream_gene_variant CLLE-ES 5 14482875 14482875 single base substitution G A exon_variant CLLE-ES 5 14482875 14482875 single base substitution G A missense_variant S1950N 5849G>A CLLE-ES 5 14482875 14482875 single base substitution G A missense_variant S2217N 6650G>A CLLE-ES 5 14492910 14492910 single base substitution G T 3_prime_UTR_variant CLLE-ES 5 14492910 14492910 single base substitution G T downstream_gene_variant CLLE-ES 5 14492910 14492910 single base substitution G T exon_variant CLLE-ES 5 14492910 14492910 single base substitution G T missense_variant D122Y 364G>T CLLE-ES 5 14492910 14492910 single base substitution G T missense_variant D2356Y 7066G>T CLLE-ES 5 14492910 14492910 single base substitution G T missense_variant D2447Y 7339G>T CLLE-ES 5 14492910 14492910 single base substitution G T missense_variant D2623Y 7867G>T CLLE-ES 5 14497008 14497008 single base substitution C T 3_prime_UTR_variant CLLE-ES 5 14497008 14497008 single base substitution C T exon_variant CLLE-ES 5 14497008 14497008 single base substitution C T missense_variant T133I 398C>T CLLE-ES 5 14497008 14497008 single base substitution C T missense_variant T2367I 7100C>T CLLE-ES 5 14497008 14497008 single base substitution C T missense_variant T2458I 7373C>T CLLE-ES 5 14497008 14497008 single base substitution C T missense_variant T2634I 7901C>T CLLE-ES 5 14497008 14497008 single base substitution C T upstream_gene_variant CLLE-ES 5 14525658 14525658 single base substitution A C intron_variant COAD-US 5 14270941 14270941 deletion of <=200bp A - 5_prime_UTR_variant COAD-US 5 14270941 14270941 deletion of <=200bp A - exon_variant COAD-US 5 14270941 14270941 deletion of <=200bp A - frameshift_variant R55 COAD-US 5 14270941 14270941 deletion of <=200bp A - frameshift_variant R6 COAD-US 5 14270947 14270947 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COAD-US 5 14270947 14270947 single base substitution C T exon_variant COAD-US 5 14270947 14270947 single base substitution C T synonymous_variant N57N 171C>T COAD-US 5 14270947 14270947 single base substitution C T synonymous_variant N8N 24C>T COAD-US 5 14280432 14280432 single base substitution T C splice_region_variant COAD-US 5 14287023 14287023 single base substitution C T exon_variant COAD-US 5 14287023 14287023 single base substitution C T missense_variant R131C 391C>T COAD-US 5 14287023 14287023 single base substitution C T missense_variant R82C 244C>T COAD-US 5 14287023 14287023 single base substitution C T upstream_gene_variant COAD-US 5 14297300 14297300 single base substitution G A exon_variant COAD-US 5 14297300 14297300 single base substitution G A synonymous_variant A165A 495G>A COAD-US 5 14297300 14297300 single base substitution G A synonymous_variant A383A 1149G>A COAD-US 5 14297300 14297300 single base substitution G A synonymous_variant A432A 1296G>A COAD-US 5 14316781 14316781 single base substitution A G exon_variant COAD-US 5 14316781 14316781 single base substitution A G missense_variant I287V 859A>G COAD-US 5 14316781 14316781 single base substitution A G missense_variant I505V 1513A>G COAD-US 5 14316781 14316781 single base substitution A G missense_variant I554V 1660A>G COAD-US 5 14330900 14330900 single base substitution T A exon_variant COAD-US 5 14330900 14330900 single base substitution T A missense_variant I315N 944T>A COAD-US 5 14330900 14330900 single base substitution T A missense_variant I533N 1598T>A COAD-US 5 14330900 14330900 single base substitution T A missense_variant I582N 1745T>A COAD-US 5 14358331 14358331 single base substitution C T exon_variant COAD-US 5 14358331 14358331 single base substitution C T synonymous_variant D430D 1290C>T COAD-US 5 14358331 14358331 single base substitution C T synonymous_variant D648D 1944C>T COAD-US 5 14358331 14358331 single base substitution C T synonymous_variant D697D 2091C>T COAD-US 5 14358340 14358340 single base substitution C T exon_variant COAD-US 5 14358340 14358340 single base substitution C T synonymous_variant A433A 1299C>T COAD-US 5 14358340 14358340 single base substitution C T synonymous_variant A651A 1953C>T COAD-US 5 14358340 14358340 single base substitution C T synonymous_variant A700A 2100C>T COAD-US 5 14363962 14363962 single base substitution T C exon_variant COAD-US 5 14363962 14363962 single base substitution T C missense_variant M571T 1712T>C COAD-US 5 14363962 14363962 single base substitution T C missense_variant M789T 2366T>C COAD-US 5 14363962 14363962 single base substitution T C missense_variant M838T 2513T>C COAD-US 5 14369498 14369498 deletion of <=200bp G - exon_variant COAD-US 5 14369498 14369498 deletion of <=200bp G - frameshift_variant E1028 COAD-US 5 14369498 14369498 deletion of <=200bp G - frameshift_variant E761 COAD-US 5 14369498 14369498 deletion of <=200bp G - frameshift_variant E979 COAD-US 5 14374408 14374408 single base substitution C A exon_variant COAD-US 5 14374408 14374408 single base substitution C A missense_variant P1047Q 3140C>A COAD-US 5 14374408 14374408 single base substitution C A missense_variant P1096Q 3287C>A COAD-US 5 14374408 14374408 single base substitution C A missense_variant P829Q 2486C>A COAD-US 5 14387606 14387606 single base substitution G A exon_variant COAD-US 5 14387606 14387606 single base substitution G A synonymous_variant G1161G 3483G>A COAD-US 5 14387606 14387606 single base substitution G A synonymous_variant G1210G 3630G>A COAD-US 5 14387606 14387606 single base substitution G A synonymous_variant G943G 2829G>A COAD-US 5 14387606 14387606 single base substitution G A upstream_gene_variant COAD-US 5 14401121 14401121 single base substitution T C downstream_gene_variant COAD-US 5 14401121 14401121 single base substitution T C exon_variant COAD-US 5 14401121 14401121 single base substitution T C missense_variant F1288S 3863T>C COAD-US 5 14401121 14401121 single base substitution T C missense_variant F1555S 4664T>C COAD-US 5 14461131 14461131 single base substitution C T exon_variant COAD-US 5 14461131 14461131 single base substitution C T missense_variant S1469L 4406C>T COAD-US 5 14461131 14461131 single base substitution C T missense_variant S1736L 5207C>T COAD-US 5 14465652 14465652 single base substitution A C splice_acceptor_variant COAD-US 5 14465725 14465725 single base substitution T G exon_variant COAD-US 5 14465725 14465725 single base substitution T G missense_variant I1646M 4938T>G COAD-US 5 14465725 14465725 single base substitution T G missense_variant I1913M 5739T>G COAD-US 5 14479450 14479450 single base substitution C A downstream_gene_variant COAD-US 5 14479450 14479450 single base substitution C A exon_variant COAD-US 5 14479450 14479450 single base substitution C A synonymous_variant T1811T 5433C>A COAD-US 5 14479450 14479450 single base substitution C A synonymous_variant T2078T 6234C>A COAD-US 5 14479450 14479450 single base substitution C A upstream_gene_variant COAD-US 5 14487619 14487619 single base substitution C G exon_variant COAD-US 5 14487619 14487619 single base substitution C G synonymous_variant G2027G 6081C>G COAD-US 5 14487619 14487619 single base substitution C G synonymous_variant G2294G 6882C>G COAD-US 5 14487619 14487619 single base substitution C G upstream_gene_variant COAD-US 5 14487780 14487780 insertion of <=200bp - C exon_variant COAD-US 5 14487780 14487780 insertion of <=200bp - C frameshift_variant H2081P? COAD-US 5 14487780 14487780 insertion of <=200bp - C frameshift_variant H2348P? COAD-US 5 14487780 14487780 insertion of <=200bp - C upstream_gene_variant COAD-US 5 14487781 14487781 deletion of <=200bp C - exon_variant COAD-US 5 14487781 14487781 deletion of <=200bp C - frameshift_variant H2081 COAD-US 5 14487781 14487781 deletion of <=200bp C - frameshift_variant H2348 COAD-US 5 14487781 14487781 deletion of <=200bp C - upstream_gene_variant COAD-US 5 14488171 14488171 single base substitution C T downstream_gene_variant COAD-US 5 14488171 14488171 single base substitution C T exon_variant COAD-US 5 14488171 14488171 single base substitution C T intron_variant COAD-US 5 14488171 14488171 single base substitution C T synonymous_variant P2211P 6633C>T COAD-US 5 14488171 14488171 single base substitution C T synonymous_variant P2478P 7434C>T COAD-US 5 14488171 14488171 single base substitution C T upstream_gene_variant COAD-US 5 14488223 14488223 single base substitution C T downstream_gene_variant COAD-US 5 14488223 14488223 single base substitution C T exon_variant COAD-US 5 14488223 14488223 single base substitution C T intron_variant COAD-US 5 14488223 14488223 single base substitution C T stop_gained R2229* 6685C>T COAD-US 5 14488223 14488223 single base substitution C T stop_gained R2496* 7486C>T COAD-US 5 14488223 14488223 single base substitution C T upstream_gene_variant COAD-US 5 14508132 14508132 single base substitution C T 3_prime_UTR_variant COAD-US 5 14508132 14508132 single base substitution C T downstream_gene_variant COAD-US 5 14508132 14508132 single base substitution C T exon_variant COAD-US 5 14508132 14508132 single base substitution C T intron_variant COAD-US 5 14508132 14508132 single base substitution C T synonymous_variant L2789L 8367C>T COAD-US 5 14508132 14508132 single base substitution C T synonymous_variant L2965L 8895C>T COAD-US 5 14508132 14508132 single base substitution C T synonymous_variant L464L 1392C>T COAD-US 5 14508201 14508201 single base substitution C T 3_prime_UTR_variant COAD-US 5 14508201 14508201 single base substitution C T downstream_gene_variant COAD-US 5 14508201 14508201 single base substitution C T exon_variant COAD-US 5 14508201 14508201 single base substitution C T intron_variant COAD-US 5 14508201 14508201 single base substitution C T synonymous_variant G2812G 8436C>T COAD-US 5 14508201 14508201 single base substitution C T synonymous_variant G2988G 8964C>T COAD-US 5 14508201 14508201 single base substitution C T synonymous_variant G487G 1461C>T COAD-US 5 14508342 14508342 single base substitution C T 3_prime_UTR_variant COAD-US 5 14508342 14508342 single base substitution C T downstream_gene_variant COAD-US 5 14508342 14508342 single base substitution C T exon_variant COAD-US 5 14508342 14508342 single base substitution C T intron_variant COAD-US 5 14508342 14508342 single base substitution C T synonymous_variant P2859P 8577C>T COAD-US 5 14508342 14508342 single base substitution C T synonymous_variant P3035P 9105C>T COAD-US 5 14508342 14508342 single base substitution C T synonymous_variant P534P 1602C>T COCA-CN 5 14144754 14144754 single base substitution G A intron_variant COCA-CN 5 14145606 14145606 single base substitution C T intron_variant COCA-CN 5 14145613 14145613 single base substitution C T intron_variant COCA-CN 5 14145880 14145880 single base substitution A C intron_variant COCA-CN 5 14173358 14173358 single base substitution A G intron_variant COCA-CN 5 14222364 14222364 single base substitution C T intron_variant COCA-CN 5 14245654 14245654 single base substitution A G intron_variant COCA-CN 5 14281248 14281248 single base substitution T C intron_variant COCA-CN 5 14293194 14293194 single base substitution A G downstream_gene_variant COCA-CN 5 14293194 14293194 single base substitution A G exon_variant COCA-CN 5 14293194 14293194 single base substitution A G missense_variant H109R 326A>G COCA-CN 5 14293194 14293194 single base substitution A G missense_variant H327R 980A>G COCA-CN 5 14293194 14293194 single base substitution A G missense_variant H376R 1127A>G COCA-CN 5 14297223 14297223 single base substitution C T exon_variant COCA-CN 5 14297223 14297223 single base substitution C T missense_variant R140C 418C>T COCA-CN 5 14297223 14297223 single base substitution C T missense_variant R358C 1072C>T COCA-CN 5 14297223 14297223 single base substitution C T missense_variant R407C 1219C>T COCA-CN 5 14303130 14303130 single base substitution G A intron_variant COCA-CN 5 14303152 14303152 single base substitution C T intron_variant COCA-CN 5 14303179 14303179 single base substitution T G intron_variant COCA-CN 5 14304813 14304813 single base substitution C T intron_variant COCA-CN 5 14316798 14316798 single base substitution G A exon_variant COCA-CN 5 14316798 14316798 single base substitution G A synonymous_variant K292K 876G>A COCA-CN 5 14316798 14316798 single base substitution G A synonymous_variant K510K 1530G>A COCA-CN 5 14316798 14316798 single base substitution G A synonymous_variant K559K 1677G>A COCA-CN 5 14342714 14342714 single base substitution G A intron_variant COCA-CN 5 14347431 14347431 single base substitution C A intron_variant COCA-CN 5 14347450 14347450 single base substitution T C intron_variant COCA-CN 5 14349099 14349099 single base substitution C T intron_variant COCA-CN 5 14359651 14359651 single base substitution C T intron_variant COCA-CN 5 14364044 14364044 single base substitution G T splice_region_variant COCA-CN 5 14366840 14366840 single base substitution T C intron_variant COCA-CN 5 14367031 14367031 single base substitution G A exon_variant COCA-CN 5 14367031 14367031 single base substitution G A synonymous_variant S672S 2016G>A COCA-CN 5 14367031 14367031 single base substitution G A synonymous_variant S890S 2670G>A COCA-CN 5 14367031 14367031 single base substitution G A synonymous_variant S939S 2817G>A COCA-CN 5 14368832 14368832 single base substitution G A exon_variant COCA-CN 5 14368832 14368832 single base substitution G A missense_variant A697T 2089G>A COCA-CN 5 14368832 14368832 single base substitution G A missense_variant A915T 2743G>A COCA-CN 5 14368832 14368832 single base substitution G A missense_variant A964T 2890G>A COCA-CN 5 14398903 14398903 single base substitution T A downstream_gene_variant COCA-CN 5 14398903 14398903 single base substitution T A intron_variant COCA-CN 5 14398903 14398903 single base substitution T A upstream_gene_variant COCA-CN 5 14403145 14403145 single base substitution A G downstream_gene_variant COCA-CN 5 14403145 14403145 single base substitution A G intron_variant COCA-CN 5 14403145 14403145 single base substitution A G upstream_gene_variant COCA-CN 5 14406668 14406668 single base substitution C A exon_variant COCA-CN 5 14406668 14406668 single base substitution C A intron_variant COCA-CN 5 14411409 14411409 single base substitution C A intron_variant COCA-CN 5 14420197 14420197 single base substitution C T downstream_gene_variant COCA-CN 5 14420197 14420197 single base substitution C T exon_variant COCA-CN 5 14420197 14420197 single base substitution C T intron_variant COCA-CN 5 14450265 14450265 single base substitution G C intron_variant COCA-CN 5 14461448 14461448 single base substitution G A intron_variant COCA-CN 5 14465710 14465710 single base substitution G A exon_variant COCA-CN 5 14465710 14465710 single base substitution G A synonymous_variant E1641E 4923G>A COCA-CN 5 14465710 14465710 single base substitution G A synonymous_variant E1908E 5724G>A COCA-CN 5 14472652 14472652 single base substitution A T intron_variant COCA-CN 5 14472652 14472652 single base substitution A T upstream_gene_variant COCA-CN 5 14480004 14480004 single base substitution C A downstream_gene_variant COCA-CN 5 14480004 14480004 single base substitution C A intron_variant COCA-CN 5 14480004 14480004 single base substitution C A upstream_gene_variant COCA-CN 5 14481777 14481777 single base substitution C A downstream_gene_variant COCA-CN 5 14481777 14481777 single base substitution C A exon_variant COCA-CN 5 14481777 14481777 single base substitution C A intron_variant COCA-CN 5 14481777 14481777 single base substitution C A upstream_gene_variant COCA-CN 5 14481875 14481875 single base substitution A T downstream_gene_variant COCA-CN 5 14481875 14481875 single base substitution A T exon_variant COCA-CN 5 14481875 14481875 single base substitution A T intron_variant COCA-CN 5 14481875 14481875 single base substitution A T upstream_gene_variant COCA-CN 5 14485162 14485162 single base substitution T A downstream_gene_variant COCA-CN 5 14485162 14485162 single base substitution T A intron_variant COCA-CN 5 14485162 14485162 single base substitution T A upstream_gene_variant COCA-CN 5 14485164 14485164 single base substitution T G downstream_gene_variant COCA-CN 5 14485164 14485164 single base substitution T G intron_variant COCA-CN 5 14485164 14485164 single base substitution T G upstream_gene_variant COCA-CN 5 14485179 14485179 single base substitution T G downstream_gene_variant COCA-CN 5 14485179 14485179 single base substitution T G missense_variant V1953G 5858T>G COCA-CN 5 14485179 14485179 single base substitution T G missense_variant V2220G 6659T>G COCA-CN 5 14485179 14485179 single base substitution T G splice_region_variant COCA-CN 5 14485179 14485179 single base substitution T G upstream_gene_variant COCA-CN 5 14485341 14485341 single base substitution G A downstream_gene_variant COCA-CN 5 14485341 14485341 single base substitution G A exon_variant COCA-CN 5 14485341 14485341 single base substitution G A missense_variant R2007H 6020G>A COCA-CN 5 14485341 14485341 single base substitution G A missense_variant R2274H 6821G>A COCA-CN 5 14485341 14485341 single base substitution G A upstream_gene_variant COCA-CN 5 14487619 14487619 single base substitution C G exon_variant COCA-CN 5 14487619 14487619 single base substitution C G synonymous_variant G2027G 6081C>G COCA-CN 5 14487619 14487619 single base substitution C G synonymous_variant G2294G 6882C>G COCA-CN 5 14487619 14487619 single base substitution C G upstream_gene_variant COCA-CN 5 14487626 14487626 single base substitution G A exon_variant COCA-CN 5 14487626 14487626 single base substitution G A missense_variant G2030S 6088G>A COCA-CN 5 14487626 14487626 single base substitution G A missense_variant G2297S 6889G>A COCA-CN 5 14487626 14487626 single base substitution G A upstream_gene_variant COCA-CN 5 14487659 14487659 single base substitution A G exon_variant COCA-CN 5 14487659 14487659 single base substitution A G missense_variant S2041G 6121A>G COCA-CN 5 14487659 14487659 single base substitution A G missense_variant S2308G 6922A>G COCA-CN 5 14487659 14487659 single base substitution A G upstream_gene_variant COCA-CN 5 14489156 14489156 single base substitution G A downstream_gene_variant COCA-CN 5 14489156 14489156 single base substitution G A exon_variant COCA-CN 5 14489156 14489156 single base substitution G A intron_variant COCA-CN 5 14489156 14489156 single base substitution G A missense_variant R36H 107G>A COCA-CN 5 14489156 14489156 single base substitution G A upstream_gene_variant COCA-CN 5 14498296 14498296 single base substitution A G 3_prime_UTR_variant COCA-CN 5 14498296 14498296 single base substitution A G downstream_gene_variant COCA-CN 5 14498296 14498296 single base substitution A G exon_variant COCA-CN 5 14498296 14498296 single base substitution A G missense_variant I215V 643A>G COCA-CN 5 14498296 14498296 single base substitution A G missense_variant I2449V 7345A>G COCA-CN 5 14498296 14498296 single base substitution A G missense_variant I2540V 7618A>G COCA-CN 5 14498296 14498296 single base substitution A G missense_variant I2716V 8146A>G COCA-CN 5 14498296 14498296 single base substitution A G upstream_gene_variant COCA-CN 5 14498602 14498602 single base substitution G A downstream_gene_variant COCA-CN 5 14498602 14498602 single base substitution G A intron_variant COCA-CN 5 14498602 14498602 single base substitution G A upstream_gene_variant COCA-CN 5 14508233 14508233 single base substitution A C 3_prime_UTR_variant COCA-CN 5 14508233 14508233 single base substitution A C downstream_gene_variant COCA-CN 5 14508233 14508233 single base substitution A C exon_variant COCA-CN 5 14508233 14508233 single base substitution A C intron_variant COCA-CN 5 14508233 14508233 single base substitution A C missense_variant E2823A 8468A>C COCA-CN 5 14508233 14508233 single base substitution A C missense_variant E2999A 8996A>C COCA-CN 5 14508233 14508233 single base substitution A C missense_variant E498A 1493A>C COCA-CN 5 14520750 14520750 single base substitution C T intron_variant COCA-CN 5 14524881 14524881 single base substitution A G intron_variant EOPC-DE 5 14146479 14146479 single base substitution T A intron_variant EOPC-DE 5 14230497 14230497 single base substitution G A intron_variant EOPC-DE 5 14250655 14250655 single base substitution A G intron_variant EOPC-DE 5 14266145 14266145 single base substitution C A intron_variant EOPC-DE 5 14304927 14304927 single base substitution G A intron_variant EOPC-DE 5 14319670 14319670 single base substitution C T intron_variant EOPC-DE 5 14439531 14439531 single base substitution C T intron_variant EOPC-DE 5 14439531 14439531 single base substitution C T upstream_gene_variant EOPC-DE 5 14480169 14480169 single base substitution G A downstream_gene_variant EOPC-DE 5 14480169 14480169 single base substitution G A intron_variant EOPC-DE 5 14480169 14480169 single base substitution G A upstream_gene_variant EOPC-DE 5 14480185 14480185 single base substitution T G downstream_gene_variant EOPC-DE 5 14480185 14480185 single base substitution T G intron_variant EOPC-DE 5 14480185 14480185 single base substitution T G upstream_gene_variant ESAD-UK 5 14139670 14139670 single base substitution A T upstream_gene_variant ESAD-UK 5 14141357 14141357 single base substitution A C upstream_gene_variant ESAD-UK 5 14143432 14143432 insertion of <=200bp - C upstream_gene_variant ESAD-UK 5 14143715 14143715 single base substitution C T upstream_gene_variant ESAD-UK 5 14149288 14149288 single base substitution C A intron_variant ESAD-UK 5 14151708 14151708 single base substitution C G intron_variant ESAD-UK 5 14152038 14152038 insertion of <=200bp - T intron_variant ESAD-UK 5 14153264 14153264 single base substitution G C intron_variant ESAD-UK 5 14153701 14153701 single base substitution A C intron_variant ESAD-UK 5 14154586 14154586 single base substitution A T intron_variant ESAD-UK 5 14155716 14155716 single base substitution T C intron_variant ESAD-UK 5 14156057 14156057 insertion of <=200bp - T intron_variant ESAD-UK 5 14157572 14157572 single base substitution C T intron_variant ESAD-UK 5 14158077 14158077 single base substitution A T intron_variant ESAD-UK 5 14159689 14159689 single base substitution T C intron_variant ESAD-UK 5 14165187 14165187 single base substitution G A intron_variant ESAD-UK 5 14167962 14167962 single base substitution C G intron_variant ESAD-UK 5 14169833 14169833 deletion of <=200bp A - intron_variant ESAD-UK 5 14171430 14171430 single base substitution G A intron_variant ESAD-UK 5 14175164 14175164 deletion of <=200bp T - intron_variant ESAD-UK 5 14175767 14175767 single base substitution T G intron_variant ESAD-UK 5 14176420 14176420 single base substitution A C intron_variant ESAD-UK 5 14177451 14177451 single base substitution C G intron_variant ESAD-UK 5 14179280 14179280 single base substitution C A intron_variant ESAD-UK 5 14179280 14179280 single base substitution C A upstream_gene_variant ESAD-UK 5 14179586 14179586 deletion of <=200bp T - intron_variant ESAD-UK 5 14179586 14179586 deletion of <=200bp T - upstream_gene_variant ESAD-UK 5 14179872 14179872 single base substitution A C intron_variant ESAD-UK 5 14179872 14179872 single base substitution A C upstream_gene_variant ESAD-UK 5 14179873 14179873 single base substitution G A intron_variant ESAD-UK 5 14179873 14179873 single base substitution G A upstream_gene_variant ESAD-UK 5 14180640 14180640 single base substitution A G intron_variant ESAD-UK 5 14180640 14180640 single base substitution A G upstream_gene_variant ESAD-UK 5 14181235 14181235 single base substitution T C intron_variant ESAD-UK 5 14181235 14181235 single base substitution T C upstream_gene_variant ESAD-UK 5 14183529 14183529 single base substitution G T intron_variant ESAD-UK 5 14183529 14183529 single base substitution G T upstream_gene_variant ESAD-UK 5 14184962 14184962 single base substitution G A intron_variant ESAD-UK 5 14185558 14185558 single base substitution G A intron_variant ESAD-UK 5 14185817 14185817 single base substitution G A intron_variant ESAD-UK 5 14188102 14188102 single base substitution G A intron_variant ESAD-UK 5 14188768 14188768 single base substitution G T intron_variant ESAD-UK 5 14194170 14194170 single base substitution C A intron_variant ESAD-UK 5 14194549 14194549 single base substitution A G intron_variant ESAD-UK 5 14195637 14195637 single base substitution A C intron_variant ESAD-UK 5 14196286 14196286 single base substitution T A intron_variant ESAD-UK 5 14196301 14196301 single base substitution G A intron_variant ESAD-UK 5 14202816 14202816 single base substitution C T intron_variant ESAD-UK 5 14205944 14205944 single base substitution C T intron_variant ESAD-UK 5 14207748 14207748 single base substitution C T intron_variant ESAD-UK 5 14207928 14207928 single base substitution T C intron_variant ESAD-UK 5 14210205 14210205 single base substitution C T intron_variant ESAD-UK 5 14212071 14212071 single base substitution A C intron_variant ESAD-UK 5 14212073 14212073 single base substitution C A intron_variant ESAD-UK 5 14212347 14212347 single base substitution T C intron_variant ESAD-UK 5 14215034 14215034 single base substitution A G intron_variant ESAD-UK 5 14215213 14215213 single base substitution G A intron_variant ESAD-UK 5 14215761 14215761 single base substitution C T intron_variant ESAD-UK 5 14216113 14216113 single base substitution C T intron_variant ESAD-UK 5 14219115 14219115 single base substitution G A intron_variant ESAD-UK 5 14219689 14219689 single base substitution C G intron_variant ESAD-UK 5 14220082 14220082 single base substitution C A intron_variant ESAD-UK 5 14220509 14220509 deletion of <=200bp T - intron_variant ESAD-UK 5 14220761 14220761 single base substitution G T intron_variant ESAD-UK 5 14221421 14221421 single base substitution T A intron_variant ESAD-UK 5 14223059 14223059 single base substitution C T intron_variant ESAD-UK 5 14223616 14223616 single base substitution A T intron_variant ESAD-UK 5 14225176 14225176 single base substitution G A intron_variant ESAD-UK 5 14231887 14231887 single base substitution C A intron_variant ESAD-UK 5 14231903 14231903 single base substitution A G intron_variant ESAD-UK 5 14233905 14233905 single base substitution T A intron_variant ESAD-UK 5 14233974 14233974 single base substitution A C intron_variant ESAD-UK 5 14235497 14235497 single base substitution T G intron_variant ESAD-UK 5 14235944 14235944 single base substitution T A intron_variant ESAD-UK 5 14237113 14237113 single base substitution A G intron_variant ESAD-UK 5 14242319 14242319 single base substitution T C intron_variant ESAD-UK 5 14247765 14247765 single base substitution G C intron_variant ESAD-UK 5 14249525 14249525 single base substitution T A intron_variant ESAD-UK 5 14250163 14250163 single base substitution T G intron_variant ESAD-UK 5 14251483 14251483 single base substitution T G intron_variant ESAD-UK 5 14251600 14251602 deletion of <=200bp TTG - intron_variant ESAD-UK 5 14252083 14252083 single base substitution A T intron_variant ESAD-UK 5 14252120 14252122 deletion of <=200bp TTA - intron_variant ESAD-UK 5 14252778 14252778 single base substitution C T intron_variant ESAD-UK 5 14255533 14255533 single base substitution T C intron_variant ESAD-UK 5 14258566 14258566 single base substitution G C intron_variant ESAD-UK 5 14261617 14261617 single base substitution G C intron_variant ESAD-UK 5 14262822 14262822 single base substitution G C intron_variant ESAD-UK 5 14264757 14264757 single base substitution T C intron_variant ESAD-UK 5 14264955 14264955 single base substitution T A intron_variant ESAD-UK 5 14266885 14266885 insertion of <=200bp - T intron_variant ESAD-UK 5 14266981 14266981 single base substitution T G intron_variant ESAD-UK 5 14267415 14267415 single base substitution C T intron_variant ESAD-UK 5 14268048 14268048 single base substitution C T intron_variant ESAD-UK 5 14270635 14270635 single base substitution C T intron_variant ESAD-UK 5 14278281 14278281 single base substitution T G intron_variant ESAD-UK 5 14278432 14278432 single base substitution G A intron_variant ESAD-UK 5 14280101 14280101 single base substitution G T intron_variant ESAD-UK 5 14281207 14281207 single base substitution T C intron_variant ESAD-UK 5 14281471 14281471 single base substitution A C intron_variant ESAD-UK 5 14281877 14281877 single base substitution A G intron_variant ESAD-UK 5 14282997 14282997 single base substitution A T intron_variant ESAD-UK 5 14283140 14283140 single base substitution C G intron_variant ESAD-UK 5 14284139 14284139 single base substitution A G intron_variant ESAD-UK 5 14288675 14288675 single base substitution C T downstream_gene_variant ESAD-UK 5 14288675 14288675 single base substitution C T intron_variant ESAD-UK 5 14288675 14288675 single base substitution C T upstream_gene_variant ESAD-UK 5 14289126 14289126 single base substitution G A downstream_gene_variant ESAD-UK 5 14289126 14289126 single base substitution G A intron_variant ESAD-UK 5 14289126 14289126 single base substitution G A upstream_gene_variant ESAD-UK 5 14289363 14289363 single base substitution A C downstream_gene_variant ESAD-UK 5 14289363 14289363 single base substitution A C intron_variant ESAD-UK 5 14289363 14289363 single base substitution A C upstream_gene_variant ESAD-UK 5 14290857 14290857 single base substitution A T downstream_gene_variant ESAD-UK 5 14290857 14290857 single base substitution A T exon_variant ESAD-UK 5 14290857 14290857 single base substitution A T missense_variant K142N 426A>T ESAD-UK 5 14290857 14290857 single base substitution A T missense_variant K191N 573A>T ESAD-UK 5 14290857 14290857 single base substitution A T upstream_gene_variant ESAD-UK 5 14292847 14292847 single base substitution C T downstream_gene_variant ESAD-UK 5 14292847 14292847 single base substitution C T intron_variant ESAD-UK 5 14292847 14292847 single base substitution C T upstream_gene_variant ESAD-UK 5 14294054 14294054 single base substitution A C downstream_gene_variant ESAD-UK 5 14294054 14294054 single base substitution A C intron_variant ESAD-UK 5 14295098 14295098 deletion of <=200bp A - downstream_gene_variant ESAD-UK 5 14295098 14295098 deletion of <=200bp A - intron_variant ESAD-UK 5 14296249 14296249 deletion of <=200bp A - intron_variant ESAD-UK 5 14296249 14296249 single base substitution A G intron_variant ESAD-UK 5 14297323 14297323 single base substitution G A exon_variant ESAD-UK 5 14297323 14297323 single base substitution G A missense_variant R173Q 518G>A ESAD-UK 5 14297323 14297323 single base substitution G A missense_variant R391Q 1172G>A ESAD-UK 5 14297323 14297323 single base substitution G A missense_variant R440Q 1319G>A ESAD-UK 5 14302131 14302131 single base substitution T G downstream_gene_variant ESAD-UK 5 14302131 14302131 single base substitution T G intron_variant ESAD-UK 5 14302266 14302266 single base substitution A T downstream_gene_variant ESAD-UK 5 14302266 14302266 single base substitution A T intron_variant ESAD-UK 5 14304760 14304760 single base substitution C T intron_variant ESAD-UK 5 14309715 14309715 single base substitution C G intron_variant ESAD-UK 5 14311987 14311987 single base substitution T G intron_variant ESAD-UK 5 14312225 14312225 single base substitution C T intron_variant ESAD-UK 5 14314092 14314092 single base substitution A C intron_variant ESAD-UK 5 14315809 14315809 deletion of <=200bp T - intron_variant ESAD-UK 5 14318301 14318301 single base substitution G T intron_variant ESAD-UK 5 14323842 14323842 single base substitution A G intron_variant ESAD-UK 5 14326044 14326044 single base substitution C T intron_variant ESAD-UK 5 14327132 14327132 single base substitution G T intron_variant ESAD-UK 5 14328625 14328625 single base substitution G A intron_variant ESAD-UK 5 14329056 14329056 single base substitution T G intron_variant ESAD-UK 5 14332314 14332314 single base substitution G T intron_variant ESAD-UK 5 14332835 14332835 single base substitution C A intron_variant ESAD-UK 5 14334315 14334315 single base substitution T C intron_variant ESAD-UK 5 14335844 14335844 single base substitution C T intron_variant ESAD-UK 5 14336558 14336558 single base substitution G T intron_variant ESAD-UK 5 14336891 14336891 deletion of <=200bp T - intron_variant ESAD-UK 5 14336892 14336892 single base substitution T A intron_variant ESAD-UK 5 14336894 14336894 single base substitution T A intron_variant ESAD-UK 5 14338137 14338137 single base substitution C A intron_variant ESAD-UK 5 14339779 14339779 single base substitution G A intron_variant ESAD-UK 5 14340227 14340227 single base substitution G A intron_variant ESAD-UK 5 14340601 14340601 single base substitution A C intron_variant ESAD-UK 5 14340642 14340642 single base substitution G A intron_variant ESAD-UK 5 14341342 14341342 single base substitution T C intron_variant ESAD-UK 5 14346402 14346402 single base substitution T A intron_variant ESAD-UK 5 14346911 14346911 single base substitution A G intron_variant ESAD-UK 5 14347714 14347714 single base substitution A C intron_variant ESAD-UK 5 14347723 14347723 single base substitution G A intron_variant ESAD-UK 5 14349356 14349356 single base substitution A G intron_variant ESAD-UK 5 14349978 14349978 single base substitution C T intron_variant ESAD-UK 5 14351047 14351047 single base substitution A G intron_variant ESAD-UK 5 14351054 14351054 single base substitution A G intron_variant ESAD-UK 5 14356306 14356306 single base substitution A G intron_variant ESAD-UK 5 14358340 14358340 single base substitution C T exon_variant ESAD-UK 5 14358340 14358340 single base substitution C T synonymous_variant A433A 1299C>T ESAD-UK 5 14358340 14358340 single base substitution C T synonymous_variant A651A 1953C>T ESAD-UK 5 14358340 14358340 single base substitution C T synonymous_variant A700A 2100C>T ESAD-UK 5 14359014 14359014 single base substitution G T intron_variant ESAD-UK 5 14360644 14360644 single base substitution A G intron_variant ESAD-UK 5 14361152 14361152 single base substitution G A intron_variant ESAD-UK 5 14361181 14361181 single base substitution T G intron_variant ESAD-UK 5 14363020 14363020 single base substitution C T intron_variant ESAD-UK 5 14363475 14363475 single base substitution C T intron_variant ESAD-UK 5 14367015 14367015 single base substitution T G exon_variant ESAD-UK 5 14367015 14367015 single base substitution T G missense_variant L667R 2000T>G ESAD-UK 5 14367015 14367015 single base substitution T G missense_variant L885R 2654T>G ESAD-UK 5 14367015 14367015 single base substitution T G missense_variant L934R 2801T>G ESAD-UK 5 14368966 14368966 single base substitution G A exon_variant ESAD-UK 5 14368966 14368966 single base substitution G A synonymous_variant K1008K 3024G>A ESAD-UK 5 14368966 14368966 single base substitution G A synonymous_variant K741K 2223G>A ESAD-UK 5 14368966 14368966 single base substitution G A synonymous_variant K959K 2877G>A ESAD-UK 5 14369575 14369575 single base substitution G A exon_variant ESAD-UK 5 14369575 14369575 single base substitution G A synonymous_variant T1004T 3012G>A ESAD-UK 5 14369575 14369575 single base substitution G A synonymous_variant T1053T 3159G>A ESAD-UK 5 14369575 14369575 single base substitution G A synonymous_variant T786T 2358G>A ESAD-UK 5 14369648 14369648 single base substitution C T intron_variant ESAD-UK 5 14370154 14370154 single base substitution G C intron_variant ESAD-UK 5 14372014 14372014 single base substitution A C intron_variant ESAD-UK 5 14372798 14372798 single base substitution T G intron_variant ESAD-UK 5 14377297 14377297 single base substitution C T intron_variant ESAD-UK 5 14377766 14377766 insertion of <=200bp - A intron_variant ESAD-UK 5 14378186 14378186 single base substitution C T exon_variant ESAD-UK 5 14378186 14378186 single base substitution C T missense_variant R1084W 3250C>T ESAD-UK 5 14378186 14378186 single base substitution C T missense_variant R1133W 3397C>T ESAD-UK 5 14378186 14378186 single base substitution C T missense_variant R866W 2596C>T ESAD-UK 5 14379587 14379587 single base substitution G A intron_variant ESAD-UK 5 14380431 14380431 single base substitution G T intron_variant ESAD-UK 5 14384206 14384206 single base substitution A G intron_variant ESAD-UK 5 14384206 14384206 single base substitution A G upstream_gene_variant ESAD-UK 5 14385061 14385061 single base substitution T C intron_variant ESAD-UK 5 14385061 14385061 single base substitution T C upstream_gene_variant ESAD-UK 5 14386019 14386019 single base substitution C T intron_variant ESAD-UK 5 14386019 14386019 single base substitution C T upstream_gene_variant ESAD-UK 5 14387934 14387934 single base substitution C T exon_variant ESAD-UK 5 14387934 14387934 single base substitution C T missense_variant R1020W 3058C>T ESAD-UK 5 14387934 14387934 single base substitution C T missense_variant R1238W 3712C>T ESAD-UK 5 14387934 14387934 single base substitution C T missense_variant R1287W 3859C>T ESAD-UK 5 14387934 14387934 single base substitution C T upstream_gene_variant ESAD-UK 5 14388175 14388175 single base substitution T C downstream_gene_variant ESAD-UK 5 14388175 14388175 single base substitution T C intron_variant ESAD-UK 5 14388175 14388175 single base substitution T C upstream_gene_variant ESAD-UK 5 14393980 14393980 single base substitution A C intron_variant ESAD-UK 5 14394283 14394283 single base substitution G A intron_variant ESAD-UK 5 14394283 14394283 single base substitution G A upstream_gene_variant ESAD-UK 5 14395096 14395096 single base substitution C T intron_variant ESAD-UK 5 14395096 14395096 single base substitution C T upstream_gene_variant ESAD-UK 5 14397588 14397588 single base substitution A G downstream_gene_variant ESAD-UK 5 14397588 14397588 single base substitution A G intron_variant ESAD-UK 5 14397588 14397588 single base substitution A G upstream_gene_variant ESAD-UK 5 14398165 14398165 single base substitution G T downstream_gene_variant ESAD-UK 5 14398165 14398165 single base substitution G T intron_variant ESAD-UK 5 14398165 14398165 single base substitution G T upstream_gene_variant ESAD-UK 5 14403052 14403052 single base substitution C T downstream_gene_variant ESAD-UK 5 14403052 14403052 single base substitution C T intron_variant ESAD-UK 5 14403052 14403052 single base substitution C T upstream_gene_variant ESAD-UK 5 14404907 14404907 single base substitution C T intron_variant ESAD-UK 5 14404907 14404907 single base substitution C T upstream_gene_variant ESAD-UK 5 14405939 14405939 single base substitution C T intron_variant ESAD-UK 5 14405939 14405939 single base substitution C T upstream_gene_variant ESAD-UK 5 14408365 14408365 single base substitution G A intron_variant ESAD-UK 5 14418772 14418772 single base substitution G A intron_variant ESAD-UK 5 14418772 14418772 single base substitution G A upstream_gene_variant ESAD-UK 5 14419366 14419366 single base substitution G A intron_variant ESAD-UK 5 14419366 14419366 single base substitution G A upstream_gene_variant ESAD-UK 5 14424811 14424811 single base substitution G T downstream_gene_variant ESAD-UK 5 14424811 14424811 single base substitution G T intron_variant ESAD-UK 5 14426814 14426814 single base substitution C A intron_variant ESAD-UK 5 14428514 14428514 single base substitution G C intron_variant ESAD-UK 5 14428888 14428888 single base substitution G A intron_variant ESAD-UK 5 14429417 14429417 single base substitution G A intron_variant ESAD-UK 5 14433554 14433554 single base substitution G A intron_variant ESAD-UK 5 14433709 14433709 single base substitution G A intron_variant ESAD-UK 5 14434808 14434808 single base substitution G T intron_variant ESAD-UK 5 14435298 14435298 single base substitution G A intron_variant ESAD-UK 5 14437796 14437796 insertion of <=200bp - C intron_variant ESAD-UK 5 14437796 14437796 insertion of <=200bp - C upstream_gene_variant ESAD-UK 5 14438941 14438941 single base substitution G A intron_variant ESAD-UK 5 14438941 14438941 single base substitution G A upstream_gene_variant ESAD-UK 5 14440536 14440536 single base substitution T C intron_variant ESAD-UK 5 14440536 14440536 single base substitution T C upstream_gene_variant ESAD-UK 5 14441614 14441614 single base substitution C T intron_variant ESAD-UK 5 14445749 14445749 single base substitution A C intron_variant ESAD-UK 5 14448475 14448475 single base substitution G C intron_variant ESAD-UK 5 14452540 14452540 single base substitution A T intron_variant ESAD-UK 5 14452543 14452544 deletion of <=200bp CT - intron_variant ESAD-UK 5 14453131 14453131 single base substitution C T intron_variant ESAD-UK 5 14455970 14455970 single base substitution G A intron_variant ESAD-UK 5 14456464 14456464 single base substitution G A intron_variant ESAD-UK 5 14459074 14459074 insertion of <=200bp - AT intron_variant ESAD-UK 5 14460034 14460034 single base substitution C A intron_variant ESAD-UK 5 14460036 14460036 single base substitution T G intron_variant ESAD-UK 5 14461231 14461231 single base substitution G A exon_variant ESAD-UK 5 14461231 14461231 single base substitution G A synonymous_variant P1502P 4506G>A ESAD-UK 5 14461231 14461231 single base substitution G A synonymous_variant P1769P 5307G>A ESAD-UK 5 14461710 14461710 single base substitution C T intron_variant ESAD-UK 5 14462414 14462414 single base substitution A C intron_variant ESAD-UK 5 14463316 14463316 single base substitution T G intron_variant ESAD-UK 5 14465390 14465390 single base substitution C A intron_variant ESAD-UK 5 14473257 14473257 single base substitution C G intron_variant ESAD-UK 5 14473257 14473257 single base substitution C G upstream_gene_variant ESAD-UK 5 14478557 14478557 single base substitution G T downstream_gene_variant ESAD-UK 5 14478557 14478557 single base substitution G T intron_variant ESAD-UK 5 14478557 14478557 single base substitution G T upstream_gene_variant ESAD-UK 5 14480505 14480505 deletion of <=200bp T - downstream_gene_variant ESAD-UK 5 14480505 14480505 deletion of <=200bp T - intron_variant ESAD-UK 5 14480505 14480505 deletion of <=200bp T - upstream_gene_variant ESAD-UK 5 14485862 14485862 single base substitution A T downstream_gene_variant ESAD-UK 5 14485862 14485862 single base substitution A T intron_variant ESAD-UK 5 14485862 14485862 single base substitution A T upstream_gene_variant ESAD-UK 5 14487843 14487843 single base substitution C T exon_variant ESAD-UK 5 14487843 14487843 single base substitution C T missense_variant T2102M 6305C>T ESAD-UK 5 14487843 14487843 single base substitution C T missense_variant T2369M 7106C>T ESAD-UK 5 14487843 14487843 single base substitution C T splice_region_variant ESAD-UK 5 14487843 14487843 single base substitution C T upstream_gene_variant ESAD-UK 5 14489367 14489367 deletion of <=200bp T - downstream_gene_variant ESAD-UK 5 14489367 14489367 deletion of <=200bp T - intron_variant ESAD-UK 5 14489367 14489367 deletion of <=200bp T - upstream_gene_variant ESAD-UK 5 14490158 14490158 single base substitution C T downstream_gene_variant ESAD-UK 5 14490158 14490158 single base substitution C T intron_variant ESAD-UK 5 14490158 14490158 single base substitution C T upstream_gene_variant ESAD-UK 5 14490159 14490159 single base substitution G A downstream_gene_variant ESAD-UK 5 14490159 14490159 single base substitution G A intron_variant ESAD-UK 5 14490159 14490159 single base substitution G A upstream_gene_variant ESAD-UK 5 14491540 14491540 single base substitution A G downstream_gene_variant ESAD-UK 5 14491540 14491540 single base substitution A G intron_variant ESAD-UK 5 14491540 14491540 single base substitution A G upstream_gene_variant ESAD-UK 5 14491554 14491554 single base substitution A T downstream_gene_variant ESAD-UK 5 14491554 14491554 single base substitution A T intron_variant ESAD-UK 5 14491554 14491554 single base substitution A T upstream_gene_variant ESAD-UK 5 14491568 14491568 single base substitution G A downstream_gene_variant ESAD-UK 5 14491568 14491568 single base substitution G A intron_variant ESAD-UK 5 14491568 14491568 single base substitution G A upstream_gene_variant ESAD-UK 5 14492042 14492042 single base substitution G A downstream_gene_variant ESAD-UK 5 14492042 14492042 single base substitution G A intron_variant ESAD-UK 5 14492042 14492042 single base substitution G A upstream_gene_variant ESAD-UK 5 14492706 14492706 single base substitution A G 3_prime_UTR_variant ESAD-UK 5 14492706 14492706 single base substitution A G downstream_gene_variant ESAD-UK 5 14492706 14492706 single base substitution A G exon_variant ESAD-UK 5 14492706 14492706 single base substitution A G missense_variant T2288A 6862A>G ESAD-UK 5 14492706 14492706 single base substitution A G missense_variant T2379A 7135A>G ESAD-UK 5 14492706 14492706 single base substitution A G missense_variant T2555A 7663A>G ESAD-UK 5 14492706 14492706 single base substitution A G missense_variant T54A 160A>G ESAD-UK 5 14497560 14497560 single base substitution G T downstream_gene_variant ESAD-UK 5 14497560 14497560 single base substitution G T intron_variant ESAD-UK 5 14497560 14497560 single base substitution G T upstream_gene_variant ESAD-UK 5 14502569 14502569 single base substitution G A downstream_gene_variant ESAD-UK 5 14502569 14502569 single base substitution G A intron_variant ESAD-UK 5 14504384 14504384 single base substitution G T intron_variant ESAD-UK 5 14504561 14504561 single base substitution C A 3_prime_UTR_variant ESAD-UK 5 14504561 14504561 single base substitution C A exon_variant ESAD-UK 5 14504561 14504561 single base substitution C A intron_variant ESAD-UK 5 14504561 14504561 single base substitution C A missense_variant T2648N 7943C>A ESAD-UK 5 14504561 14504561 single base substitution C A missense_variant T2824N 8471C>A ESAD-UK 5 14504561 14504561 single base substitution C A missense_variant T323N 968C>A ESAD-UK 5 14509004 14509004 single base substitution G A 3_prime_UTR_variant ESAD-UK 5 14509004 14509004 single base substitution G A downstream_gene_variant ESAD-UK 5 14509004 14509004 single base substitution G A intron_variant ESAD-UK 5 14509352 14509352 single base substitution G T 3_prime_UTR_variant ESAD-UK 5 14509352 14509352 single base substitution G T downstream_gene_variant ESAD-UK 5 14509352 14509352 single base substitution G T intron_variant ESAD-UK 5 14509966 14509966 single base substitution G A 3_prime_UTR_variant ESAD-UK 5 14509966 14509966 single base substitution G A downstream_gene_variant ESAD-UK 5 14509966 14509966 single base substitution G A intron_variant ESAD-UK 5 14510188 14510188 single base substitution A C 3_prime_UTR_variant ESAD-UK 5 14510188 14510188 single base substitution A C downstream_gene_variant ESAD-UK 5 14510188 14510188 single base substitution A C intron_variant ESAD-UK 5 14516475 14516475 insertion of <=200bp - AT intron_variant ESAD-UK 5 14518555 14518555 single base substitution T C intron_variant ESAD-UK 5 14519043 14519043 single base substitution G A intron_variant ESAD-UK 5 14522011 14522011 single base substitution A G intron_variant ESAD-UK 5 14522048 14522048 single base substitution G A intron_variant ESAD-UK 5 14524106 14524106 single base substitution G A intron_variant ESAD-UK 5 14524737 14524737 single base substitution G A intron_variant ESAD-UK 5 14526895 14526895 deletion of <=200bp A - intron_variant ESAD-UK 5 14526993 14526993 single base substitution G A intron_variant ESAD-UK 5 14531069 14531069 single base substitution G A intron_variant ESCA-CN 5 14280524 14280524 single base substitution C T exon_variant ESCA-CN 5 14280524 14280524 single base substitution C T missense_variant S109F 326C>T ESCA-CN 5 14280524 14280524 single base substitution C T missense_variant S60F 179C>T ESCA-CN 5 14330960 14330960 single base substitution G T exon_variant ESCA-CN 5 14330960 14330960 single base substitution G T missense_variant R335L 1004G>T ESCA-CN 5 14330960 14330960 single base substitution G T missense_variant R553L 1658G>T ESCA-CN 5 14330960 14330960 single base substitution G T missense_variant R602L 1805G>T ESCA-CN 5 14336661 14336661 single base substitution C T exon_variant ESCA-CN 5 14336661 14336661 single base substitution C T missense_variant A357V 1070C>T ESCA-CN 5 14336661 14336661 single base substitution C T missense_variant A575V 1724C>T ESCA-CN 5 14336661 14336661 single base substitution C T missense_variant A624V 1871C>T ESCA-CN 5 14358419 14358419 single base substitution G A exon_variant ESCA-CN 5 14358419 14358419 single base substitution G A missense_variant V460M 1378G>A ESCA-CN 5 14358419 14358419 single base substitution G A missense_variant V678M 2032G>A ESCA-CN 5 14358419 14358419 single base substitution G A missense_variant V727M 2179G>A ESCA-CN 5 14387923 14387923 single base substitution A G exon_variant ESCA-CN 5 14387923 14387923 single base substitution A G missense_variant N1016S 3047A>G ESCA-CN 5 14387923 14387923 single base substitution A G missense_variant N1234S 3701A>G ESCA-CN 5 14387923 14387923 single base substitution A G missense_variant N1283S 3848A>G ESCA-CN 5 14387923 14387923 single base substitution A G upstream_gene_variant ESCA-CN 5 14401300 14401300 single base substitution G T downstream_gene_variant ESCA-CN 5 14401300 14401300 single base substitution G T intron_variant ESCA-CN 5 14420045 14420045 single base substitution G A downstream_gene_variant ESCA-CN 5 14420045 14420045 single base substitution G A exon_variant ESCA-CN 5 14420045 14420045 single base substitution G A synonymous_variant A1439A 4317G>A ESCA-CN 5 14420045 14420045 single base substitution G A synonymous_variant A1706A 5118G>A ESCA-CN 5 14479499 14479499 single base substitution T A downstream_gene_variant ESCA-CN 5 14479499 14479499 single base substitution T A intron_variant ESCA-CN 5 14479499 14479499 single base substitution T A upstream_gene_variant ESCA-CN 5 14482692 14482692 single base substitution G A downstream_gene_variant ESCA-CN 5 14482692 14482692 single base substitution G A exon_variant ESCA-CN 5 14482692 14482692 single base substitution G A missense_variant G1889E 5666G>A ESCA-CN 5 14482692 14482692 single base substitution G A missense_variant G2156E 6467G>A ESCA-CN 5 14482692 14482692 single base substitution G A splice_region_variant ESCA-CN 5 14482773 14482773 single base substitution G A downstream_gene_variant ESCA-CN 5 14482773 14482773 single base substitution G A exon_variant ESCA-CN 5 14482773 14482773 single base substitution G A missense_variant C1916Y 5747G>A ESCA-CN 5 14482773 14482773 single base substitution G A missense_variant C2183Y 6548G>A ESCA-CN 5 14488280 14488280 single base substitution C A downstream_gene_variant ESCA-CN 5 14488280 14488280 single base substitution C A exon_variant ESCA-CN 5 14488280 14488280 single base substitution C A intron_variant ESCA-CN 5 14488280 14488280 single base substitution C A missense_variant R2248S 6742C>A ESCA-CN 5 14488280 14488280 single base substitution C A missense_variant R2515S 7543C>A ESCA-CN 5 14488280 14488280 single base substitution C A upstream_gene_variant ESCA-CN 5 14502867 14502867 single base substitution A G downstream_gene_variant ESCA-CN 5 14502867 14502867 single base substitution A G intron_variant GBM-US 5 14389446 14389446 single base substitution A G downstream_gene_variant GBM-US 5 14389446 14389446 single base substitution A G exon_variant GBM-US 5 14389446 14389446 single base substitution A G missense_variant I1066V 3196A>G GBM-US 5 14389446 14389446 single base substitution A G missense_variant I1284V 3850A>G GBM-US 5 14389446 14389446 single base substitution A G missense_variant I1333V 3997A>G KIRC-US 5 14364826 14364826 single base substitution T A exon_variant KIRC-US 5 14364826 14364826 single base substitution T A synonymous_variant L618L 1854T>A KIRC-US 5 14364826 14364826 single base substitution T A synonymous_variant L836L 2508T>A KIRC-US 5 14364826 14364826 single base substitution T A synonymous_variant L885L 2655T>A KIRC-US 5 14485224 14485224 single base substitution A T downstream_gene_variant KIRC-US 5 14485224 14485224 single base substitution A T exon_variant KIRC-US 5 14485224 14485224 single base substitution A T missense_variant K1968I 5903A>T KIRC-US 5 14485224 14485224 single base substitution A T missense_variant K2235I 6704A>T KIRC-US 5 14485224 14485224 single base substitution A T upstream_gene_variant KIRC-US 5 14497119 14497119 single base substitution C A 3_prime_UTR_variant KIRC-US 5 14497119 14497119 single base substitution C A downstream_gene_variant KIRC-US 5 14497119 14497119 single base substitution C A missense_variant S170Y 509C>A KIRC-US 5 14497119 14497119 single base substitution C A missense_variant S2404Y 7211C>A KIRC-US 5 14497119 14497119 single base substitution C A missense_variant S2495Y 7484C>A KIRC-US 5 14497119 14497119 single base substitution C A missense_variant S2671Y 8012C>A KIRC-US 5 14497119 14497119 single base substitution C A upstream_gene_variant KIRP-US 5 14358383 14358385 deletion of <=200bp CAG - exon_variant KIRP-US 5 14358383 14358385 deletion of <=200bp CAG - inframe_deletion Q448 KIRP-US 5 14358383 14358385 deletion of <=200bp CAG - inframe_deletion Q666 KIRP-US 5 14358383 14358385 deletion of <=200bp CAG - inframe_deletion Q715 KIRP-US 5 14381318 14381318 single base substitution A G exon_variant KIRP-US 5 14381318 14381318 single base substitution A G missense_variant Q1127R 3380A>G KIRP-US 5 14381318 14381318 single base substitution A G missense_variant Q1176R 3527A>G KIRP-US 5 14381318 14381318 single base substitution A G missense_variant Q909R 2726A>G KIRP-US 5 14387672 14387672 deletion of <=200bp T - exon_variant KIRP-US 5 14387672 14387672 deletion of <=200bp T - frameshift_variant S1183 KIRP-US 5 14387672 14387672 deletion of <=200bp T - frameshift_variant S1232 KIRP-US 5 14387672 14387672 deletion of <=200bp T - frameshift_variant S965 KIRP-US 5 14387672 14387672 deletion of <=200bp T - upstream_gene_variant KIRP-US 5 14471560 14471560 single base substitution C T downstream_gene_variant KIRP-US 5 14471560 14471560 single base substitution C T exon_variant KIRP-US 5 14471560 14471560 single base substitution C T missense_variant S1699F 5096C>T KIRP-US 5 14471560 14471560 single base substitution C T missense_variant S1966F 5897C>T KIRP-US 5 14471560 14471560 single base substitution C T upstream_gene_variant KIRP-US 5 14497016 14497016 single base substitution C A 3_prime_UTR_variant KIRP-US 5 14497016 14497016 single base substitution C A exon_variant KIRP-US 5 14497016 14497016 single base substitution C A missense_variant R136S 406C>A KIRP-US 5 14497016 14497016 single base substitution C A missense_variant R2370S 7108C>A KIRP-US 5 14497016 14497016 single base substitution C A missense_variant R2461S 7381C>A KIRP-US 5 14497016 14497016 single base substitution C A missense_variant R2637S 7909C>A KIRP-US 5 14497016 14497016 single base substitution C A upstream_gene_variant KIRP-US 5 14497115 14497115 single base substitution G C 3_prime_UTR_variant KIRP-US 5 14497115 14497115 single base substitution G C downstream_gene_variant KIRP-US 5 14497115 14497115 single base substitution G C missense_variant V169L 505G>C KIRP-US 5 14497115 14497115 single base substitution G C missense_variant V2403L 7207G>C KIRP-US 5 14497115 14497115 single base substitution G C missense_variant V2494L 7480G>C KIRP-US 5 14497115 14497115 single base substitution G C missense_variant V2670L 8008G>C KIRP-US 5 14497115 14497115 single base substitution G C upstream_gene_variant LAML-KR 5 14157199 14157199 single base substitution A C intron_variant LAML-KR 5 14157636 14157636 single base substitution G C intron_variant LAML-KR 5 14290805 14290805 single base substitution G A downstream_gene_variant LAML-KR 5 14290805 14290805 single base substitution G A intron_variant LAML-KR 5 14290805 14290805 single base substitution G A upstream_gene_variant LAML-KR 5 14303152 14303152 single base substitution C T intron_variant LAML-KR 5 14303529 14303529 single base substitution A G intron_variant LAML-KR 5 14303712 14303712 single base substitution A T intron_variant LAML-KR 5 14347144 14347144 single base substitution T C intron_variant LAML-KR 5 14364647 14364647 single base substitution G T intron_variant LAML-KR 5 14377962 14377962 single base substitution A C intron_variant LAML-KR 5 14383053 14383053 single base substitution T C intron_variant LAML-KR 5 14383053 14383053 single base substitution T C upstream_gene_variant LAML-KR 5 14403539 14403539 single base substitution T C downstream_gene_variant LAML-KR 5 14403539 14403539 single base substitution T C intron_variant LAML-KR 5 14403539 14403539 single base substitution T C upstream_gene_variant LAML-KR 5 14455720 14455720 single base substitution T C intron_variant LGG-US 5 14406753 14406753 single base substitution C T exon_variant LGG-US 5 14406753 14406753 single base substitution C T missense_variant T1377M 4130C>T LGG-US 5 14406753 14406753 single base substitution C T missense_variant T1644M 4931C>T LGG-US 5 14498282 14498282 single base substitution G A 3_prime_UTR_variant LGG-US 5 14498282 14498282 single base substitution G A downstream_gene_variant LGG-US 5 14498282 14498282 single base substitution G A exon_variant LGG-US 5 14498282 14498282 single base substitution G A missense_variant R210H 629G>A LGG-US 5 14498282 14498282 single base substitution G A missense_variant R2444H 7331G>A LGG-US 5 14498282 14498282 single base substitution G A missense_variant R2535H 7604G>A LGG-US 5 14498282 14498282 single base substitution G A missense_variant R2711H 8132G>A LGG-US 5 14498282 14498282 single base substitution G A upstream_gene_variant LIAD-FR 5 14488125 14488125 single base substitution G T downstream_gene_variant LIAD-FR 5 14488125 14488125 single base substitution G T exon_variant LIAD-FR 5 14488125 14488125 single base substitution G T intron_variant LIAD-FR 5 14488125 14488125 single base substitution G T missense_variant S2196I 6587G>T LIAD-FR 5 14488125 14488125 single base substitution G T missense_variant S2463I 7388G>T LIAD-FR 5 14488125 14488125 single base substitution G T upstream_gene_variant LICA-CN 5 14290878 14290878 single base substitution A T downstream_gene_variant LICA-CN 5 14290878 14290878 single base substitution A T exon_variant LICA-CN 5 14290878 14290878 single base substitution A T synonymous_variant L149L 447A>T LICA-CN 5 14290878 14290878 single base substitution A T synonymous_variant L198L 594A>T LICA-CN 5 14290878 14290878 single base substitution A T upstream_gene_variant LICA-CN 5 14487652 14487652 single base substitution T G exon_variant LICA-CN 5 14487652 14487652 single base substitution T G synonymous_variant G2038G 6114T>G LICA-CN 5 14487652 14487652 single base substitution T G synonymous_variant G2305G 6915T>G LICA-CN 5 14487652 14487652 single base substitution T G upstream_gene_variant LICA-FR 5 14172192 14172193 deletion of <=200bp TC - intron_variant LICA-FR 5 14232427 14232427 single base substitution A C intron_variant LICA-FR 5 14232664 14232664 single base substitution C A intron_variant LICA-FR 5 14261025 14261025 single base substitution A G intron_variant LICA-FR 5 14263263 14263263 single base substitution A G intron_variant LICA-FR 5 14279022 14279022 single base substitution A G intron_variant LICA-FR 5 14291235 14291235 single base substitution G A downstream_gene_variant LICA-FR 5 14291235 14291235 single base substitution G A exon_variant LICA-FR 5 14291235 14291235 single base substitution G A synonymous_variant R268R 804G>A LICA-FR 5 14291235 14291235 single base substitution G A synonymous_variant R317R 951G>A LICA-FR 5 14291235 14291235 single base substitution G A synonymous_variant R50R 150G>A LICA-FR 5 14291235 14291235 single base substitution G A upstream_gene_variant LICA-FR 5 14291898 14291908 deletion of <=200bp AAAAAAAAAAA - downstream_gene_variant LICA-FR 5 14291898 14291908 deletion of <=200bp AAAAAAAAAAA - intron_variant LICA-FR 5 14291898 14291908 deletion of <=200bp AAAAAAAAAAA - upstream_gene_variant LICA-FR 5 14300409 14300409 single base substitution G T downstream_gene_variant LICA-FR 5 14300409 14300409 single base substitution G T intron_variant LICA-FR 5 14316768 14316768 single base substitution G A exon_variant LICA-FR 5 14316768 14316768 single base substitution G A synonymous_variant R282R 846G>A LICA-FR 5 14316768 14316768 single base substitution G A synonymous_variant R500R 1500G>A LICA-FR 5 14316768 14316768 single base substitution G A synonymous_variant R549R 1647G>A LICA-FR 5 14336772 14336772 single base substitution G C exon_variant LICA-FR 5 14336772 14336772 single base substitution G C missense_variant R394P 1181G>C LICA-FR 5 14336772 14336772 single base substitution G C missense_variant R612P 1835G>C LICA-FR 5 14336772 14336772 single base substitution G C missense_variant R661P 1982G>C LICA-FR 5 14340507 14340507 deletion of <=200bp A - intron_variant LICA-FR 5 14347176 14347176 single base substitution C A intron_variant LICA-FR 5 14347404 14347404 single base substitution C G intron_variant LICA-FR 5 14347431 14347431 single base substitution C A intron_variant LICA-FR 5 14367703 14367703 single base substitution G A intron_variant LICA-FR 5 14389806 14389806 single base substitution C T downstream_gene_variant LICA-FR 5 14389806 14389806 single base substitution C T intron_variant LICA-FR 5 14451081 14451081 single base substitution G T intron_variant LICA-FR 5 14459062 14459062 single base substitution A G intron_variant LICA-FR 5 14465653 14465653 single base substitution G A splice_acceptor_variant LICA-FR 5 14497089 14497089 single base substitution A T 3_prime_UTR_variant LICA-FR 5 14497089 14497089 single base substitution A T exon_variant LICA-FR 5 14497089 14497089 single base substitution A T missense_variant K160M 479A>T LICA-FR 5 14497089 14497089 single base substitution A T missense_variant K2394M 7181A>T LICA-FR 5 14497089 14497089 single base substitution A T missense_variant K2485M 7454A>T LICA-FR 5 14497089 14497089 single base substitution A T missense_variant K2661M 7982A>T LICA-FR 5 14497089 14497089 single base substitution A T upstream_gene_variant LICA-FR 5 14508367 14508367 single base substitution G A 3_prime_UTR_variant LICA-FR 5 14508367 14508367 single base substitution G A downstream_gene_variant LICA-FR 5 14508367 14508367 single base substitution G A exon_variant LICA-FR 5 14508367 14508367 single base substitution G A intron_variant LICA-FR 5 14508367 14508367 single base substitution G A missense_variant A2868T 8602G>A LICA-FR 5 14508367 14508367 single base substitution G A missense_variant A3044T 9130G>A LICA-FR 5 14508367 14508367 single base substitution G A missense_variant A543T 1627G>A LICA-FR 5 14508407 14508407 single base substitution G A 3_prime_UTR_variant LICA-FR 5 14508407 14508407 single base substitution G A downstream_gene_variant LICA-FR 5 14508407 14508407 single base substitution G A exon_variant LICA-FR 5 14508407 14508407 single base substitution G A intron_variant LICA-FR 5 14508407 14508407 single base substitution G A missense_variant S2881N 8642G>A LICA-FR 5 14508407 14508407 single base substitution G A missense_variant S3057N 9170G>A LICA-FR 5 14508407 14508407 single base substitution G A missense_variant S556N 1667G>A LICA-FR 5 14514678 14514678 deletion of <=200bp A - downstream_gene_variant LICA-FR 5 14514678 14514678 deletion of <=200bp A - intron_variant LICA-FR 5 14526453 14526453 single base substitution C A intron_variant LICA-FR 5 14527552 14527552 single base substitution T G intron_variant LIHC-US 5 14270940 14270940 single base substitution G A 5_prime_UTR_variant LIHC-US 5 14270940 14270940 single base substitution G A exon_variant LIHC-US 5 14270940 14270940 single base substitution G A missense_variant R55Q 164G>A LIHC-US 5 14270940 14270940 single base substitution G A missense_variant R6Q 17G>A LIHC-US 5 14374421 14374421 single base substitution G A exon_variant LIHC-US 5 14374421 14374421 single base substitution G A synonymous_variant T1051T 3153G>A LIHC-US 5 14374421 14374421 single base substitution G A synonymous_variant T1100T 3300G>A LIHC-US 5 14374421 14374421 single base substitution G A synonymous_variant T833T 2499G>A LIHC-US 5 14474101 14474101 single base substitution A G splice_acceptor_variant LIHC-US 5 14474101 14474101 single base substitution A G upstream_gene_variant LIHC-US 5 14502722 14502722 single base substitution A G 3_prime_UTR_variant LIHC-US 5 14502722 14502722 single base substitution A G downstream_gene_variant LIHC-US 5 14502722 14502722 single base substitution A G exon_variant LIHC-US 5 14502722 14502722 single base substitution A G synonymous_variant K2522K 7566A>G LIHC-US 5 14502722 14502722 single base substitution A G synonymous_variant K2613K 7839A>G LIHC-US 5 14502722 14502722 single base substitution A G synonymous_variant K2789K 8367A>G LIHC-US 5 14502722 14502722 single base substitution A G synonymous_variant K288K 864A>G LIHC-US 5 14502746 14502746 single base substitution T C 3_prime_UTR_variant LIHC-US 5 14502746 14502746 single base substitution T C downstream_gene_variant LIHC-US 5 14502746 14502746 single base substitution T C exon_variant LIHC-US 5 14502746 14502746 single base substitution T C synonymous_variant S2530S 7590T>C LIHC-US 5 14502746 14502746 single base substitution T C synonymous_variant S2621S 7863T>C LIHC-US 5 14502746 14502746 single base substitution T C synonymous_variant S2797S 8391T>C LIHC-US 5 14502746 14502746 single base substitution T C synonymous_variant S296S 888T>C LINC-JP 5 14142520 14142520 single base substitution T A upstream_gene_variant LINC-JP 5 14147678 14147678 single base substitution A G intron_variant LINC-JP 5 14164221 14164221 single base substitution T C intron_variant LINC-JP 5 14164631 14164631 single base substitution A T intron_variant LINC-JP 5 14173331 14173331 single base substitution A G intron_variant LINC-JP 5 14179573 14179573 single base substitution C T intron_variant LINC-JP 5 14179573 14179573 single base substitution C T upstream_gene_variant LINC-JP 5 14183116 14183116 single base substitution T G intron_variant LINC-JP 5 14183116 14183116 single base substitution T G upstream_gene_variant LINC-JP 5 14198334 14198334 single base substitution T C intron_variant LINC-JP 5 14201766 14201766 single base substitution T G intron_variant LINC-JP 5 14205360 14205360 single base substitution C A intron_variant LINC-JP 5 14207668 14207668 single base substitution G C intron_variant LINC-JP 5 14211587 14211587 single base substitution T G intron_variant LINC-JP 5 14214654 14214654 deletion of <=200bp A - intron_variant LINC-JP 5 14219357 14219357 single base substitution T G intron_variant LINC-JP 5 14220376 14220376 single base substitution T C intron_variant LINC-JP 5 14224767 14224769 deletion of <=200bp GGC - intron_variant LINC-JP 5 14227029 14227029 single base substitution C T intron_variant LINC-JP 5 14250160 14250160 single base substitution A G intron_variant LINC-JP 5 14257018 14257018 single base substitution A G intron_variant LINC-JP 5 14265193 14265193 deletion of <=200bp T - intron_variant LINC-JP 5 14279248 14279248 single base substitution A T intron_variant LINC-JP 5 14287043 14287043 single base substitution C T exon_variant LINC-JP 5 14287043 14287043 single base substitution C T synonymous_variant S137S 411C>T LINC-JP 5 14287043 14287043 single base substitution C T synonymous_variant S88S 264C>T LINC-JP 5 14287043 14287043 single base substitution C T upstream_gene_variant LINC-JP 5 14294120 14294120 single base substitution A C downstream_gene_variant LINC-JP 5 14294120 14294120 single base substitution A C intron_variant LINC-JP 5 14294121 14294121 single base substitution A T downstream_gene_variant LINC-JP 5 14294121 14294121 single base substitution A T intron_variant LINC-JP 5 14304619 14304619 single base substitution T C exon_variant LINC-JP 5 14304619 14304619 single base substitution T C missense_variant L206P 617T>C LINC-JP 5 14304619 14304619 single base substitution T C missense_variant L424P 1271T>C LINC-JP 5 14304619 14304619 single base substitution T C missense_variant L473P 1418T>C LINC-JP 5 14304683 14304683 single base substitution C T exon_variant LINC-JP 5 14304683 14304683 single base substitution C T synonymous_variant I227I 681C>T LINC-JP 5 14304683 14304683 single base substitution C T synonymous_variant I445I 1335C>T LINC-JP 5 14304683 14304683 single base substitution C T synonymous_variant I494I 1482C>T LINC-JP 5 14304770 14304770 deletion of <=200bp A - intron_variant LINC-JP 5 14311718 14311718 single base substitution G A intron_variant LINC-JP 5 14312286 14312286 single base substitution C G intron_variant LINC-JP 5 14325232 14325232 deletion of <=200bp C - intron_variant LINC-JP 5 14325645 14325645 single base substitution A T intron_variant LINC-JP 5 14336847 14336847 single base substitution A T intron_variant LINC-JP 5 14337240 14337240 single base substitution G C intron_variant LINC-JP 5 14339349 14339349 single base substitution C T intron_variant LINC-JP 5 14351756 14351756 single base substitution A C intron_variant LINC-JP 5 14359640 14359640 single base substitution C T splice_region_variant LINC-JP 5 14375852 14375852 single base substitution C T intron_variant LINC-JP 5 14377190 14377190 single base substitution A T intron_variant LINC-JP 5 14377266 14377266 deletion of <=200bp T - intron_variant LINC-JP 5 14387810 14387810 single base substitution A T intron_variant LINC-JP 5 14387810 14387810 single base substitution A T upstream_gene_variant LINC-JP 5 14388856 14388856 single base substitution C G downstream_gene_variant LINC-JP 5 14388856 14388856 single base substitution C G intron_variant LINC-JP 5 14390249 14390249 single base substitution G T downstream_gene_variant LINC-JP 5 14390249 14390249 single base substitution G T intron_variant LINC-JP 5 14396470 14396470 single base substitution C T intron_variant LINC-JP 5 14396470 14396470 single base substitution C T upstream_gene_variant LINC-JP 5 14403598 14403598 single base substitution G T downstream_gene_variant LINC-JP 5 14403598 14403598 single base substitution G T intron_variant LINC-JP 5 14403598 14403598 single base substitution G T upstream_gene_variant LINC-JP 5 14415148 14415148 single base substitution T G intron_variant LINC-JP 5 14415148 14415148 single base substitution T G upstream_gene_variant LINC-JP 5 14416483 14416483 single base substitution G T intron_variant LINC-JP 5 14416483 14416483 single base substitution G T upstream_gene_variant LINC-JP 5 14424877 14424877 single base substitution C A downstream_gene_variant LINC-JP 5 14424877 14424877 single base substitution C A intron_variant LINC-JP 5 14438941 14438941 single base substitution G T intron_variant LINC-JP 5 14438941 14438941 single base substitution G T upstream_gene_variant LINC-JP 5 14440811 14440811 deletion of <=200bp T - intron_variant LINC-JP 5 14440811 14440811 deletion of <=200bp T - upstream_gene_variant LINC-JP 5 14444515 14444515 single base substitution T G intron_variant LINC-JP 5 14461003 14461003 insertion of <=200bp - G intron_variant LINC-JP 5 14461313 14461313 single base substitution G A exon_variant LINC-JP 5 14461313 14461313 single base substitution G A missense_variant A1530T 4588G>A LINC-JP 5 14461313 14461313 single base substitution G A missense_variant A1797T 5389G>A LINC-JP 5 14462976 14462976 single base substitution C T exon_variant LINC-JP 5 14462976 14462976 single base substitution C T missense_variant P1603L 4808C>T LINC-JP 5 14462976 14462976 single base substitution C T missense_variant P1870L 5609C>T LINC-JP 5 14463784 14463784 deletion of <=200bp T - intron_variant LINC-JP 5 14464944 14464944 single base substitution T C intron_variant LINC-JP 5 14465694 14465694 single base substitution C A exon_variant LINC-JP 5 14465694 14465694 single base substitution C A missense_variant T1636K 4907C>A LINC-JP 5 14465694 14465694 single base substitution C A missense_variant T1903K 5708C>A LINC-JP 5 14472028 14472028 deletion of <=200bp A - intron_variant LINC-JP 5 14472028 14472028 deletion of <=200bp A - upstream_gene_variant LINC-JP 5 14476983 14476983 single base substitution A G intron_variant LINC-JP 5 14476983 14476983 single base substitution A G upstream_gene_variant LINC-JP 5 14477082 14477082 single base substitution A G exon_variant LINC-JP 5 14477082 14477082 single base substitution A G intron_variant LINC-JP 5 14477082 14477082 single base substitution A G upstream_gene_variant LINC-JP 5 14477745 14477745 single base substitution T G downstream_gene_variant LINC-JP 5 14477745 14477745 single base substitution T G intron_variant LINC-JP 5 14477745 14477745 single base substitution T G upstream_gene_variant LINC-JP 5 14478477 14478477 single base substitution T A downstream_gene_variant LINC-JP 5 14478477 14478477 single base substitution T A intron_variant LINC-JP 5 14478477 14478477 single base substitution T A upstream_gene_variant LINC-JP 5 14481681 14481681 single base substitution G T downstream_gene_variant LINC-JP 5 14481681 14481681 single base substitution G T exon_variant LINC-JP 5 14481681 14481681 single base substitution G T missense_variant R1873M 5618G>T LINC-JP 5 14481681 14481681 single base substitution G T missense_variant R2140M 6419G>T LINC-JP 5 14481681 14481681 single base substitution G T upstream_gene_variant LINC-JP 5 14482785 14482785 single base substitution G T downstream_gene_variant LINC-JP 5 14482785 14482785 single base substitution G T exon_variant LINC-JP 5 14482785 14482785 single base substitution G T missense_variant R1920L 5759G>T LINC-JP 5 14482785 14482785 single base substitution G T missense_variant R2187L 6560G>T LINC-JP 5 14482925 14482925 single base substitution A G downstream_gene_variant LINC-JP 5 14482925 14482925 single base substitution A G intron_variant LINC-JP 5 14484923 14484923 single base substitution A G downstream_gene_variant LINC-JP 5 14484923 14484923 single base substitution A G intron_variant LINC-JP 5 14484923 14484923 single base substitution A G upstream_gene_variant LINC-JP 5 14492652 14492652 single base substitution C T downstream_gene_variant LINC-JP 5 14492652 14492652 single base substitution C T exon_variant LINC-JP 5 14492652 14492652 single base substitution C T intron_variant LINC-JP 5 14497016 14497016 single base substitution C T 3_prime_UTR_variant LINC-JP 5 14497016 14497016 single base substitution C T exon_variant LINC-JP 5 14497016 14497016 single base substitution C T missense_variant R136C 406C>T LINC-JP 5 14497016 14497016 single base substitution C T missense_variant R2370C 7108C>T LINC-JP 5 14497016 14497016 single base substitution C T missense_variant R2461C 7381C>T LINC-JP 5 14497016 14497016 single base substitution C T missense_variant R2637C 7909C>T LINC-JP 5 14497016 14497016 single base substitution C T upstream_gene_variant LINC-JP 5 14497274 14497274 single base substitution T C downstream_gene_variant LINC-JP 5 14497274 14497274 single base substitution T C intron_variant LINC-JP 5 14497274 14497274 single base substitution T C upstream_gene_variant LINC-JP 5 14498759 14498759 single base substitution G A downstream_gene_variant LINC-JP 5 14498759 14498759 single base substitution G A exon_variant LINC-JP 5 14498759 14498759 single base substitution G A intron_variant LINC-JP 5 14502688 14502688 single base substitution G T downstream_gene_variant LINC-JP 5 14502688 14502688 single base substitution G T missense_variant G2511V 7532G>T LINC-JP 5 14502688 14502688 single base substitution G T missense_variant G2602V 7805G>T LINC-JP 5 14502688 14502688 single base substitution G T missense_variant G2778V 8333G>T LINC-JP 5 14502688 14502688 single base substitution G T missense_variant G277V 830G>T LINC-JP 5 14502688 14502688 single base substitution G T splice_region_variant LINC-JP 5 14504593 14504593 single base substitution G T 3_prime_UTR_variant LINC-JP 5 14504593 14504593 single base substitution G T exon_variant LINC-JP 5 14504593 14504593 single base substitution G T intron_variant LINC-JP 5 14504593 14504593 single base substitution G T missense_variant D2659Y 7975G>T LINC-JP 5 14504593 14504593 single base substitution G T missense_variant D2835Y 8503G>T LINC-JP 5 14504593 14504593 single base substitution G T missense_variant D334Y 1000G>T LINC-JP 5 14507187 14507187 single base substitution A C downstream_gene_variant LINC-JP 5 14507187 14507187 single base substitution A C intron_variant LINC-JP 5 14507252 14507252 single base substitution G A 3_prime_UTR_variant LINC-JP 5 14507252 14507252 single base substitution G A downstream_gene_variant LINC-JP 5 14507252 14507252 single base substitution G A intron_variant LINC-JP 5 14507252 14507252 single base substitution G A synonymous_variant L2702L 8106G>A LINC-JP 5 14507252 14507252 single base substitution G A synonymous_variant L2878L 8634G>A LINC-JP 5 14507252 14507252 single base substitution G A synonymous_variant L377L 1131G>A LINC-JP 5 14510342 14510342 single base substitution G A downstream_gene_variant LINC-JP 5 14510342 14510342 single base substitution G A intron_variant LIRI-JP 5 14139354 14139354 single base substitution G A upstream_gene_variant LIRI-JP 5 14141558 14141558 single base substitution T C upstream_gene_variant LIRI-JP 5 14141649 14141649 single base substitution T C upstream_gene_variant LIRI-JP 5 14142457 14142457 single base substitution C T upstream_gene_variant LIRI-JP 5 14145323 14145323 single base substitution C T intron_variant LIRI-JP 5 14145851 14145851 single base substitution A G intron_variant LIRI-JP 5 14146185 14146185 single base substitution A G intron_variant LIRI-JP 5 14146656 14146656 single base substitution A G intron_variant LIRI-JP 5 14148680 14148680 single base substitution T G intron_variant LIRI-JP 5 14149117 14149117 single base substitution A G intron_variant LIRI-JP 5 14149309 14149309 single base substitution T A intron_variant LIRI-JP 5 14149405 14149405 single base substitution T C intron_variant LIRI-JP 5 14149686 14149686 single base substitution G C intron_variant LIRI-JP 5 14151041 14151041 single base substitution A G intron_variant LIRI-JP 5 14151860 14151860 single base substitution A G intron_variant LIRI-JP 5 14154691 14154691 single base substitution A G intron_variant LIRI-JP 5 14161084 14161084 single base substitution A G intron_variant LIRI-JP 5 14161798 14161798 single base substitution T C intron_variant LIRI-JP 5 14162473 14162473 single base substitution A G intron_variant LIRI-JP 5 14162838 14162838 single base substitution A G intron_variant LIRI-JP 5 14168012 14168022 deletion of <=200bp AATCTCTTTTT - intron_variant LIRI-JP 5 14168736 14168736 single base substitution T G intron_variant LIRI-JP 5 14169170 14169170 single base substitution T C intron_variant LIRI-JP 5 14169241 14169241 single base substitution T G intron_variant LIRI-JP 5 14170166 14170166 single base substitution G T intron_variant LIRI-JP 5 14170167 14170167 single base substitution C T intron_variant LIRI-JP 5 14170822 14170822 single base substitution C G intron_variant LIRI-JP 5 14171192 14171192 single base substitution C T intron_variant LIRI-JP 5 14171448 14171448 single base substitution A G intron_variant LIRI-JP 5 14171964 14171964 single base substitution A G intron_variant LIRI-JP 5 14173564 14173564 single base substitution G T intron_variant LIRI-JP 5 14174302 14174302 single base substitution T A intron_variant LIRI-JP 5 14174409 14174409 single base substitution C T intron_variant LIRI-JP 5 14176180 14176180 single base substitution A T intron_variant LIRI-JP 5 14177826 14177826 single base substitution C A intron_variant LIRI-JP 5 14180373 14180373 single base substitution G T intron_variant LIRI-JP 5 14180373 14180373 single base substitution G T upstream_gene_variant LIRI-JP 5 14181220 14181221 deletion of <=200bp TA - intron_variant LIRI-JP 5 14181220 14181221 deletion of <=200bp TA - upstream_gene_variant LIRI-JP 5 14181855 14181855 single base substitution G A intron_variant LIRI-JP 5 14181855 14181855 single base substitution G A upstream_gene_variant LIRI-JP 5 14183771 14183771 single base substitution C G intron_variant LIRI-JP 5 14183771 14183771 single base substitution C G upstream_gene_variant LIRI-JP 5 14187146 14187146 single base substitution A T intron_variant LIRI-JP 5 14187535 14187535 single base substitution A G intron_variant LIRI-JP 5 14194979 14194979 single base substitution T C intron_variant LIRI-JP 5 14200775 14200775 single base substitution T G intron_variant LIRI-JP 5 14202692 14202692 single base substitution T G intron_variant LIRI-JP 5 14202742 14202742 single base substitution G A intron_variant LIRI-JP 5 14203814 14203814 single base substitution G T intron_variant LIRI-JP 5 14205271 14205271 single base substitution C G intron_variant LIRI-JP 5 14205400 14205400 deletion of <=200bp T - intron_variant LIRI-JP 5 14208975 14208975 single base substitution T G intron_variant LIRI-JP 5 14210616 14210616 single base substitution T G intron_variant LIRI-JP 5 14210983 14210983 single base substitution T C intron_variant LIRI-JP 5 14211441 14211441 single base substitution T G intron_variant LIRI-JP 5 14214451 14214451 single base substitution T G intron_variant LIRI-JP 5 14214552 14214552 single base substitution G A intron_variant LIRI-JP 5 14219657 14219657 single base substitution G C intron_variant LIRI-JP 5 14222274 14222274 single base substitution A G intron_variant LIRI-JP 5 14222672 14222672 single base substitution G A intron_variant LIRI-JP 5 14223398 14223398 single base substitution A G intron_variant LIRI-JP 5 14224086 14224086 single base substitution A G intron_variant LIRI-JP 5 14224318 14224318 single base substitution A T intron_variant LIRI-JP 5 14224631 14224631 single base substitution T C intron_variant LIRI-JP 5 14226781 14226781 single base substitution C T intron_variant LIRI-JP 5 14227052 14227052 single base substitution A C intron_variant LIRI-JP 5 14227238 14227238 single base substitution C G intron_variant LIRI-JP 5 14228714 14228714 single base substitution A C intron_variant LIRI-JP 5 14229369 14229369 single base substitution C G intron_variant LIRI-JP 5 14229369 14229369 single base substitution C T intron_variant LIRI-JP 5 14232463 14232463 single base substitution C T intron_variant LIRI-JP 5 14234521 14234521 single base substitution C T intron_variant LIRI-JP 5 14235173 14235173 single base substitution T G intron_variant LIRI-JP 5 14236607 14236607 single base substitution G A intron_variant LIRI-JP 5 14238874 14238874 single base substitution G A intron_variant LIRI-JP 5 14240017 14240017 single base substitution G A intron_variant LIRI-JP 5 14240454 14240454 single base substitution A G intron_variant LIRI-JP 5 14240487 14240487 single base substitution G C intron_variant LIRI-JP 5 14241739 14241739 single base substitution C G intron_variant LIRI-JP 5 14242002 14242002 single base substitution G A intron_variant LIRI-JP 5 14242426 14242426 single base substitution A G intron_variant LIRI-JP 5 14245178 14245178 single base substitution A C intron_variant LIRI-JP 5 14250640 14250640 single base substitution T G intron_variant LIRI-JP 5 14253398 14253398 single base substitution G T intron_variant LIRI-JP 5 14255740 14255740 single base substitution T C intron_variant LIRI-JP 5 14256908 14256908 single base substitution G T intron_variant LIRI-JP 5 14257339 14257342 deletion of <=200bp CCAC - intron_variant LIRI-JP 5 14257348 14257348 single base substitution C T intron_variant LIRI-JP 5 14258126 14258126 single base substitution A G intron_variant LIRI-JP 5 14259362 14259362 single base substitution A G intron_variant LIRI-JP 5 14260378 14260378 single base substitution A G intron_variant LIRI-JP 5 14260849 14260849 single base substitution A G intron_variant LIRI-JP 5 14261100 14261100 single base substitution G T intron_variant LIRI-JP 5 14267012 14267012 single base substitution A G intron_variant LIRI-JP 5 14269611 14269611 single base substitution A C intron_variant LIRI-JP 5 14269765 14269765 single base substitution C A intron_variant LIRI-JP 5 14272770 14272771 deletion of <=200bp AT - intron_variant LIRI-JP 5 14273330 14273330 deletion of <=200bp A - intron_variant LIRI-JP 5 14273378 14273378 single base substitution A G intron_variant LIRI-JP 5 14275547 14275547 single base substitution A T intron_variant LIRI-JP 5 14275953 14275953 single base substitution A G intron_variant LIRI-JP 5 14278481 14278481 single base substitution A T intron_variant LIRI-JP 5 14279332 14279332 single base substitution G T intron_variant LIRI-JP 5 14279735 14279735 single base substitution A G intron_variant LIRI-JP 5 14284612 14284612 single base substitution G A intron_variant LIRI-JP 5 14287181 14287181 single base substitution C T exon_variant LIRI-JP 5 14287181 14287181 single base substitution C T intron_variant LIRI-JP 5 14287181 14287181 single base substitution C T upstream_gene_variant LIRI-JP 5 14287613 14287613 single base substitution A G downstream_gene_variant LIRI-JP 5 14287613 14287613 single base substitution A G intron_variant LIRI-JP 5 14287613 14287613 single base substitution A G upstream_gene_variant LIRI-JP 5 14287725 14287725 single base substitution A C downstream_gene_variant LIRI-JP 5 14287725 14287725 single base substitution A C intron_variant LIRI-JP 5 14287725 14287725 single base substitution A C upstream_gene_variant LIRI-JP 5 14288256 14288256 single base substitution A G downstream_gene_variant LIRI-JP 5 14288256 14288256 single base substitution A G intron_variant LIRI-JP 5 14288256 14288256 single base substitution A G upstream_gene_variant LIRI-JP 5 14289883 14289883 single base substitution G T downstream_gene_variant LIRI-JP 5 14289883 14289883 single base substitution G T intron_variant LIRI-JP 5 14289883 14289883 single base substitution G T upstream_gene_variant LIRI-JP 5 14290500 14290533 deletion of <=200bp TTTAATGTGTCTGTTATAGTGGGTTAATCTCCAT - downstream_gene_variant LIRI-JP 5 14290500 14290533 deletion of <=200bp TTTAATGTGTCTGTTATAGTGGGTTAATCTCCAT - intron_variant LIRI-JP 5 14290500 14290533 deletion of <=200bp TTTAATGTGTCTGTTATAGTGGGTTAATCTCCAT - upstream_gene_variant LIRI-JP 5 14292148 14292148 single base substitution A G downstream_gene_variant LIRI-JP 5 14292148 14292148 single base substitution A G intron_variant LIRI-JP 5 14292148 14292148 single base substitution A G upstream_gene_variant LIRI-JP 5 14292628 14292628 single base substitution A G downstream_gene_variant LIRI-JP 5 14292628 14292628 single base substitution A G intron_variant LIRI-JP 5 14292628 14292628 single base substitution A G upstream_gene_variant LIRI-JP 5 14292992 14292992 single base substitution A T downstream_gene_variant LIRI-JP 5 14292992 14292992 single base substitution A T intron_variant LIRI-JP 5 14292992 14292992 single base substitution A T upstream_gene_variant LIRI-JP 5 14293882 14293882 single base substitution T C downstream_gene_variant LIRI-JP 5 14293882 14293882 single base substitution T C intron_variant LIRI-JP 5 14294216 14294216 single base substitution G T downstream_gene_variant LIRI-JP 5 14294216 14294216 single base substitution G T intron_variant LIRI-JP 5 14294321 14294321 single base substitution A G downstream_gene_variant LIRI-JP 5 14294321 14294321 single base substitution A G intron_variant LIRI-JP 5 14297202 14297202 single base substitution C T exon_variant LIRI-JP 5 14297202 14297202 single base substitution C T missense_variant R133C 397C>T LIRI-JP 5 14297202 14297202 single base substitution C T missense_variant R351C 1051C>T LIRI-JP 5 14297202 14297202 single base substitution C T missense_variant R400C 1198C>T LIRI-JP 5 14297895 14297895 single base substitution G A downstream_gene_variant LIRI-JP 5 14297895 14297895 single base substitution G A intron_variant LIRI-JP 5 14304239 14304239 single base substitution G A intron_variant LIRI-JP 5 14305559 14305559 deletion of <=200bp C - intron_variant LIRI-JP 5 14309738 14309738 deletion of <=200bp A - intron_variant LIRI-JP 5 14309750 14309750 single base substitution A C intron_variant LIRI-JP 5 14310065 14310068 deletion of <=200bp TCCC - intron_variant LIRI-JP 5 14310336 14310336 single base substitution A G intron_variant LIRI-JP 5 14312974 14312974 deletion of <=200bp A - intron_variant LIRI-JP 5 14314673 14314673 single base substitution A T intron_variant LIRI-JP 5 14316748 14316748 single base substitution G A exon_variant LIRI-JP 5 14316748 14316748 single base substitution G A missense_variant E276K 826G>A LIRI-JP 5 14316748 14316748 single base substitution G A missense_variant E494K 1480G>A LIRI-JP 5 14316748 14316748 single base substitution G A missense_variant E543K 1627G>A LIRI-JP 5 14318875 14318875 single base substitution A T intron_variant LIRI-JP 5 14319443 14319443 single base substitution A G intron_variant LIRI-JP 5 14323972 14323972 single base substitution A G intron_variant LIRI-JP 5 14325812 14325812 deletion of <=200bp A - intron_variant LIRI-JP 5 14326829 14326829 single base substitution G T intron_variant LIRI-JP 5 14329803 14329803 single base substitution A C intron_variant LIRI-JP 5 14332615 14332615 single base substitution T G intron_variant LIRI-JP 5 14332700 14332700 single base substitution G C intron_variant LIRI-JP 5 14332751 14332751 single base substitution G A intron_variant LIRI-JP 5 14333151 14333151 single base substitution A G intron_variant LIRI-JP 5 14334200 14334200 single base substitution C G intron_variant LIRI-JP 5 14336754 14336754 single base substitution G A exon_variant LIRI-JP 5 14336754 14336754 single base substitution G A missense_variant R388Q 1163G>A LIRI-JP 5 14336754 14336754 single base substitution G A missense_variant R606Q 1817G>A LIRI-JP 5 14336754 14336754 single base substitution G A missense_variant R655Q 1964G>A LIRI-JP 5 14338298 14338298 single base substitution A G intron_variant LIRI-JP 5 14338330 14338330 single base substitution A G intron_variant LIRI-JP 5 14338401 14338401 single base substitution C G intron_variant LIRI-JP 5 14338610 14338610 single base substitution G A intron_variant LIRI-JP 5 14339540 14339540 single base substitution T C intron_variant LIRI-JP 5 14341184 14341184 single base substitution A G intron_variant LIRI-JP 5 14341651 14341651 single base substitution A G intron_variant LIRI-JP 5 14348035 14348035 single base substitution G C intron_variant LIRI-JP 5 14349506 14349506 single base substitution A G intron_variant LIRI-JP 5 14349515 14349515 single base substitution C T intron_variant LIRI-JP 5 14349665 14349665 single base substitution G A intron_variant LIRI-JP 5 14349665 14349665 single base substitution G T intron_variant LIRI-JP 5 14352976 14352976 single base substitution G T intron_variant LIRI-JP 5 14353838 14353838 single base substitution A G intron_variant LIRI-JP 5 14354247 14354247 single base substitution G T intron_variant LIRI-JP 5 14356417 14356417 single base substitution A G intron_variant LIRI-JP 5 14359415 14359415 single base substitution A G intron_variant LIRI-JP 5 14362852 14362852 single base substitution C A intron_variant LIRI-JP 5 14363211 14363211 single base substitution G T intron_variant LIRI-JP 5 14364714 14364714 single base substitution T A intron_variant LIRI-JP 5 14365898 14365898 single base substitution T C intron_variant LIRI-JP 5 14371379 14371379 single base substitution A C intron_variant LIRI-JP 5 14373264 14373264 single base substitution C A intron_variant LIRI-JP 5 14373415 14373415 single base substitution A G intron_variant LIRI-JP 5 14374004 14374031 deletion of <=200bp CAGGGTCAGGCCAGGTGTGCAAACCTCT - intron_variant LIRI-JP 5 14375687 14375687 single base substitution G T intron_variant LIRI-JP 5 14376167 14376167 single base substitution G A intron_variant LIRI-JP 5 14379669 14379669 single base substitution A G intron_variant LIRI-JP 5 14381877 14381877 single base substitution T G intron_variant LIRI-JP 5 14382311 14382311 single base substitution A G intron_variant LIRI-JP 5 14383635 14383635 single base substitution A C intron_variant LIRI-JP 5 14383635 14383635 single base substitution A C upstream_gene_variant LIRI-JP 5 14384371 14384371 single base substitution G A intron_variant LIRI-JP 5 14384371 14384371 single base substitution G A upstream_gene_variant LIRI-JP 5 14385442 14385442 single base substitution G A intron_variant LIRI-JP 5 14385442 14385442 single base substitution G A upstream_gene_variant LIRI-JP 5 14385557 14385557 single base substitution T C intron_variant LIRI-JP 5 14385557 14385557 single base substitution T C upstream_gene_variant LIRI-JP 5 14386104 14386104 single base substitution A C intron_variant LIRI-JP 5 14386104 14386104 single base substitution A C upstream_gene_variant LIRI-JP 5 14387886 14387886 single base substitution T A exon_variant LIRI-JP 5 14387886 14387886 single base substitution T A missense_variant S1004T 3010T>A LIRI-JP 5 14387886 14387886 single base substitution T A missense_variant S1222T 3664T>A LIRI-JP 5 14387886 14387886 single base substitution T A missense_variant S1271T 3811T>A LIRI-JP 5 14387886 14387886 single base substitution T A upstream_gene_variant LIRI-JP 5 14388723 14388723 single base substitution T G downstream_gene_variant LIRI-JP 5 14388723 14388723 single base substitution T G exon_variant LIRI-JP 5 14388723 14388723 single base substitution T G missense_variant F1028V 3082T>G LIRI-JP 5 14388723 14388723 single base substitution T G missense_variant F1246V 3736T>G LIRI-JP 5 14388723 14388723 single base substitution T G missense_variant F1295V 3883T>G LIRI-JP 5 14388723 14388723 single base substitution T G splice_region_variant LIRI-JP 5 14391456 14391456 single base substitution A G downstream_gene_variant LIRI-JP 5 14391456 14391456 single base substitution A G intron_variant LIRI-JP 5 14391700 14391700 single base substitution A G downstream_gene_variant LIRI-JP 5 14391700 14391700 single base substitution A G intron_variant LIRI-JP 5 14391910 14391910 single base substitution T C downstream_gene_variant LIRI-JP 5 14391910 14391910 single base substitution T C intron_variant LIRI-JP 5 14393470 14393470 single base substitution C A intron_variant LIRI-JP 5 14397366 14397366 single base substitution T C exon_variant LIRI-JP 5 14397366 14397366 single base substitution T C intron_variant LIRI-JP 5 14397366 14397366 single base substitution T C upstream_gene_variant LIRI-JP 5 14397829 14397829 single base substitution A G downstream_gene_variant LIRI-JP 5 14397829 14397829 single base substitution A G intron_variant LIRI-JP 5 14397829 14397829 single base substitution A G upstream_gene_variant LIRI-JP 5 14399602 14399602 single base substitution A G downstream_gene_variant LIRI-JP 5 14399602 14399602 single base substitution A G intron_variant LIRI-JP 5 14405298 14405298 single base substitution G A intron_variant LIRI-JP 5 14405298 14405298 single base substitution G A upstream_gene_variant LIRI-JP 5 14406870 14406870 single base substitution G A intron_variant LIRI-JP 5 14408272 14408272 single base substitution A T intron_variant LIRI-JP 5 14411068 14411068 single base substitution T C intron_variant LIRI-JP 5 14411613 14411620 deletion of <=200bp AGAAATTC - intron_variant LIRI-JP 5 14413329 14413335 deletion of <=200bp GTTTTAC - intron_variant LIRI-JP 5 14413552 14413552 single base substitution T C intron_variant LIRI-JP 5 14416156 14416156 single base substitution G A intron_variant LIRI-JP 5 14416156 14416156 single base substitution G A upstream_gene_variant LIRI-JP 5 14416356 14416356 deletion of <=200bp G - intron_variant LIRI-JP 5 14416356 14416356 deletion of <=200bp G - upstream_gene_variant LIRI-JP 5 14416870 14416870 single base substitution C A intron_variant LIRI-JP 5 14416870 14416870 single base substitution C A upstream_gene_variant LIRI-JP 5 14417178 14417178 single base substitution C A intron_variant LIRI-JP 5 14417178 14417178 single base substitution C A upstream_gene_variant LIRI-JP 5 14417210 14417210 single base substitution A G intron_variant LIRI-JP 5 14417210 14417210 single base substitution A G upstream_gene_variant LIRI-JP 5 14417792 14417792 single base substitution T C intron_variant LIRI-JP 5 14417792 14417792 single base substitution T C upstream_gene_variant LIRI-JP 5 14419708 14419708 single base substitution G C intron_variant LIRI-JP 5 14419708 14419708 single base substitution G C upstream_gene_variant LIRI-JP 5 14422101 14422101 single base substitution C T downstream_gene_variant LIRI-JP 5 14422101 14422101 single base substitution C T intron_variant LIRI-JP 5 14422385 14422385 single base substitution C T downstream_gene_variant LIRI-JP 5 14422385 14422385 single base substitution C T intron_variant LIRI-JP 5 14422558 14422558 single base substitution T G downstream_gene_variant LIRI-JP 5 14422558 14422558 single base substitution T G intron_variant LIRI-JP 5 14426684 14426684 single base substitution A G intron_variant LIRI-JP 5 14428184 14428184 single base substitution C A intron_variant LIRI-JP 5 14428857 14428857 single base substitution A G intron_variant LIRI-JP 5 14430974 14430974 single base substitution G A intron_variant LIRI-JP 5 14431131 14431131 single base substitution A T intron_variant LIRI-JP 5 14432663 14432663 single base substitution A G intron_variant LIRI-JP 5 14440056 14440056 single base substitution A T intron_variant LIRI-JP 5 14440056 14440056 single base substitution A T upstream_gene_variant LIRI-JP 5 14440735 14440735 single base substitution T C intron_variant LIRI-JP 5 14440735 14440735 single base substitution T C upstream_gene_variant LIRI-JP 5 14441911 14441911 single base substitution C T intron_variant LIRI-JP 5 14442547 14442547 single base substitution G A intron_variant LIRI-JP 5 14443576 14443576 single base substitution A G intron_variant LIRI-JP 5 14444037 14444037 single base substitution T G intron_variant LIRI-JP 5 14444054 14444054 single base substitution A G intron_variant LIRI-JP 5 14445265 14445265 single base substitution T G intron_variant LIRI-JP 5 14445674 14445674 single base substitution A G intron_variant LIRI-JP 5 14446638 14446638 single base substitution A G intron_variant LIRI-JP 5 14448307 14448307 single base substitution A G intron_variant LIRI-JP 5 14450708 14450708 single base substitution A G intron_variant LIRI-JP 5 14454614 14454614 single base substitution C T intron_variant LIRI-JP 5 14457053 14457053 single base substitution A G intron_variant LIRI-JP 5 14457838 14457838 single base substitution G T intron_variant LIRI-JP 5 14458580 14458580 single base substitution C T intron_variant LIRI-JP 5 14458950 14458950 single base substitution A T intron_variant LIRI-JP 5 14459400 14459400 single base substitution C T intron_variant LIRI-JP 5 14460037 14460037 single base substitution T G intron_variant LIRI-JP 5 14460761 14460761 single base substitution A G intron_variant LIRI-JP 5 14461092 14461092 single base substitution C T intron_variant LIRI-JP 5 14462357 14462357 single base substitution T A intron_variant LIRI-JP 5 14462620 14462620 single base substitution A G intron_variant LIRI-JP 5 14469437 14469437 single base substitution G C downstream_gene_variant LIRI-JP 5 14469437 14469437 single base substitution G C intron_variant LIRI-JP 5 14469437 14469437 single base substitution G C upstream_gene_variant LIRI-JP 5 14469457 14469457 single base substitution A T downstream_gene_variant LIRI-JP 5 14469457 14469457 single base substitution A T intron_variant LIRI-JP 5 14469457 14469457 single base substitution A T upstream_gene_variant LIRI-JP 5 14470350 14470350 single base substitution C G downstream_gene_variant LIRI-JP 5 14470350 14470350 single base substitution C G intron_variant LIRI-JP 5 14470350 14470350 single base substitution C G upstream_gene_variant LIRI-JP 5 14470399 14470399 single base substitution A G downstream_gene_variant LIRI-JP 5 14470399 14470399 single base substitution A G intron_variant LIRI-JP 5 14470399 14470399 single base substitution A G upstream_gene_variant LIRI-JP 5 14470725 14470725 single base substitution A G downstream_gene_variant LIRI-JP 5 14470725 14470725 single base substitution A G intron_variant LIRI-JP 5 14470725 14470725 single base substitution A G upstream_gene_variant LIRI-JP 5 14470897 14470897 single base substitution T G downstream_gene_variant LIRI-JP 5 14470897 14470897 single base substitution T G intron_variant LIRI-JP 5 14470897 14470897 single base substitution T G upstream_gene_variant LIRI-JP 5 14471727 14471727 single base substitution G A intron_variant LIRI-JP 5 14471727 14471727 single base substitution G A upstream_gene_variant LIRI-JP 5 14472333 14472333 single base substitution T C intron_variant LIRI-JP 5 14472333 14472333 single base substitution T C upstream_gene_variant LIRI-JP 5 14472352 14472352 single base substitution T C intron_variant LIRI-JP 5 14472352 14472352 single base substitution T C upstream_gene_variant LIRI-JP 5 14472437 14472437 single base substitution A G intron_variant LIRI-JP 5 14472437 14472437 single base substitution A G upstream_gene_variant LIRI-JP 5 14472474 14472474 single base substitution T C intron_variant LIRI-JP 5 14472474 14472474 single base substitution T C upstream_gene_variant LIRI-JP 5 14474060 14474060 single base substitution A G intron_variant LIRI-JP 5 14474060 14474060 single base substitution A G upstream_gene_variant LIRI-JP 5 14475414 14475414 single base substitution G C intron_variant LIRI-JP 5 14475414 14475414 single base substitution G C upstream_gene_variant LIRI-JP 5 14478072 14478072 single base substitution A G downstream_gene_variant LIRI-JP 5 14478072 14478072 single base substitution A G intron_variant LIRI-JP 5 14478072 14478072 single base substitution A G upstream_gene_variant LIRI-JP 5 14479144 14479144 single base substitution G C downstream_gene_variant LIRI-JP 5 14479144 14479144 single base substitution G C intron_variant LIRI-JP 5 14479144 14479144 single base substitution G C upstream_gene_variant LIRI-JP 5 14481605 14481605 single base substitution C T downstream_gene_variant LIRI-JP 5 14481605 14481605 single base substitution C T intron_variant LIRI-JP 5 14481605 14481605 single base substitution C T upstream_gene_variant LIRI-JP 5 14484416 14484416 single base substitution G T downstream_gene_variant LIRI-JP 5 14484416 14484416 single base substitution G T intron_variant LIRI-JP 5 14484416 14484416 single base substitution G T upstream_gene_variant LIRI-JP 5 14485542 14485542 single base substitution C A downstream_gene_variant LIRI-JP 5 14485542 14485542 single base substitution C A intron_variant LIRI-JP 5 14485542 14485542 single base substitution C A upstream_gene_variant LIRI-JP 5 14486376 14486376 single base substitution G T downstream_gene_variant LIRI-JP 5 14486376 14486376 single base substitution G T intron_variant LIRI-JP 5 14486376 14486376 single base substitution G T upstream_gene_variant LIRI-JP 5 14486791 14486791 single base substitution A G downstream_gene_variant LIRI-JP 5 14486791 14486791 single base substitution A G intron_variant LIRI-JP 5 14486791 14486791 single base substitution A G upstream_gene_variant LIRI-JP 5 14488846 14488846 single base substitution T G 5_prime_UTR_variant LIRI-JP 5 14488846 14488846 single base substitution T G downstream_gene_variant LIRI-JP 5 14488846 14488846 single base substitution T G exon_variant LIRI-JP 5 14488846 14488846 single base substitution T G intron_variant LIRI-JP 5 14488846 14488846 single base substitution T G upstream_gene_variant LIRI-JP 5 14489533 14489533 single base substitution T A downstream_gene_variant LIRI-JP 5 14489533 14489533 single base substitution T A intron_variant LIRI-JP 5 14489533 14489533 single base substitution T A upstream_gene_variant LIRI-JP 5 14490986 14490986 single base substitution G T downstream_gene_variant LIRI-JP 5 14490986 14490986 single base substitution G T intron_variant LIRI-JP 5 14490986 14490986 single base substitution G T upstream_gene_variant LIRI-JP 5 14491606 14491606 single base substitution A G downstream_gene_variant LIRI-JP 5 14491606 14491606 single base substitution A G intron_variant LIRI-JP 5 14491606 14491606 single base substitution A G upstream_gene_variant LIRI-JP 5 14491911 14491911 single base substitution C T downstream_gene_variant LIRI-JP 5 14491911 14491911 single base substitution C T intron_variant LIRI-JP 5 14491911 14491911 single base substitution C T upstream_gene_variant LIRI-JP 5 14494227 14494227 single base substitution A T downstream_gene_variant LIRI-JP 5 14494227 14494227 single base substitution A T intron_variant LIRI-JP 5 14494227 14494227 single base substitution A T upstream_gene_variant LIRI-JP 5 14494460 14494460 single base substitution G A intron_variant LIRI-JP 5 14494460 14494460 single base substitution G A upstream_gene_variant LIRI-JP 5 14494720 14494720 single base substitution A G intron_variant LIRI-JP 5 14494720 14494720 single base substitution A G upstream_gene_variant LIRI-JP 5 14495089 14495089 single base substitution A G intron_variant LIRI-JP 5 14495089 14495089 single base substitution A G upstream_gene_variant LIRI-JP 5 14495530 14495530 single base substitution A T intron_variant LIRI-JP 5 14495530 14495530 single base substitution A T upstream_gene_variant LIRI-JP 5 14498214 14498214 single base substitution C T 3_prime_UTR_variant LIRI-JP 5 14498214 14498214 single base substitution C T downstream_gene_variant LIRI-JP 5 14498214 14498214 single base substitution C T synonymous_variant V187V 561C>T LIRI-JP 5 14498214 14498214 single base substitution C T synonymous_variant V2421V 7263C>T LIRI-JP 5 14498214 14498214 single base substitution C T synonymous_variant V2512V 7536C>T LIRI-JP 5 14498214 14498214 single base substitution C T synonymous_variant V2688V 8064C>T LIRI-JP 5 14498214 14498214 single base substitution C T upstream_gene_variant LIRI-JP 5 14498419 14498419 single base substitution G A downstream_gene_variant LIRI-JP 5 14498419 14498419 single base substitution G A intron_variant LIRI-JP 5 14498419 14498419 single base substitution G A upstream_gene_variant LIRI-JP 5 14498587 14498587 deletion of <=200bp C - downstream_gene_variant LIRI-JP 5 14498587 14498587 deletion of <=200bp C - intron_variant LIRI-JP 5 14498587 14498587 deletion of <=200bp C - upstream_gene_variant LIRI-JP 5 14499168 14499168 single base substitution G A downstream_gene_variant LIRI-JP 5 14499168 14499168 single base substitution G A exon_variant LIRI-JP 5 14499168 14499168 single base substitution G A intron_variant LIRI-JP 5 14499597 14499597 single base substitution A G downstream_gene_variant LIRI-JP 5 14499597 14499597 single base substitution A G intron_variant LIRI-JP 5 14499750 14499750 single base substitution C A downstream_gene_variant LIRI-JP 5 14499750 14499750 single base substitution C A intron_variant LIRI-JP 5 14502104 14502104 single base substitution C T downstream_gene_variant LIRI-JP 5 14502104 14502104 single base substitution C T intron_variant LIRI-JP 5 14503052 14503052 single base substitution G A downstream_gene_variant LIRI-JP 5 14503052 14503052 single base substitution G A intron_variant LIRI-JP 5 14503457 14503457 single base substitution G A downstream_gene_variant LIRI-JP 5 14503457 14503457 single base substitution G A intron_variant LIRI-JP 5 14508631 14508631 single base substitution T C 3_prime_UTR_variant LIRI-JP 5 14508631 14508631 single base substitution T C downstream_gene_variant LIRI-JP 5 14508631 14508631 single base substitution T C intron_variant LIRI-JP 5 14508909 14508909 single base substitution A G 3_prime_UTR_variant LIRI-JP 5 14508909 14508909 single base substitution A G downstream_gene_variant LIRI-JP 5 14508909 14508909 single base substitution A G intron_variant LIRI-JP 5 14514545 14514545 single base substitution G A downstream_gene_variant LIRI-JP 5 14514545 14514545 single base substitution G A intron_variant LIRI-JP 5 14515830 14515830 single base substitution A G intron_variant LIRI-JP 5 14515886 14515886 single base substitution A G intron_variant LIRI-JP 5 14516826 14516826 single base substitution A G intron_variant LIRI-JP 5 14518159 14518159 single base substitution C T intron_variant LIRI-JP 5 14520142 14520142 single base substitution A G intron_variant LIRI-JP 5 14520927 14520927 single base substitution C T intron_variant LIRI-JP 5 14521431 14521431 single base substitution A G intron_variant LIRI-JP 5 14522935 14522935 single base substitution C A intron_variant LIRI-JP 5 14524470 14524470 single base substitution A G intron_variant LIRI-JP 5 14526661 14526661 single base substitution A G intron_variant LIRI-JP 5 14528331 14528331 single base substitution C G intron_variant LIRI-JP 5 14528521 14528521 single base substitution C A intron_variant LIRI-JP 5 14534378 14534378 single base substitution T G downstream_gene_variant LUSC-KR 5 14139195 14139195 single base substitution T A upstream_gene_variant LUSC-KR 5 14140580 14140580 single base substitution C T upstream_gene_variant LUSC-KR 5 14142699 14142699 single base substitution A T upstream_gene_variant LUSC-KR 5 14143261 14143261 single base substitution C A upstream_gene_variant LUSC-KR 5 14145651 14145651 single base substitution C T intron_variant LUSC-KR 5 14146017 14146017 single base substitution C G intron_variant LUSC-KR 5 14147320 14147320 single base substitution G A intron_variant LUSC-KR 5 14150015 14150015 single base substitution G C intron_variant LUSC-KR 5 14150657 14150657 single base substitution G A intron_variant LUSC-KR 5 14154594 14154594 single base substitution C T intron_variant LUSC-KR 5 14155880 14155880 single base substitution T A intron_variant LUSC-KR 5 14165488 14165488 single base substitution C A intron_variant LUSC-KR 5 14166956 14166956 single base substitution G T intron_variant LUSC-KR 5 14168073 14168073 single base substitution G A intron_variant LUSC-KR 5 14173650 14173650 single base substitution G T intron_variant LUSC-KR 5 14174930 14174930 single base substitution C T intron_variant LUSC-KR 5 14176445 14176445 single base substitution G T intron_variant LUSC-KR 5 14176749 14176749 single base substitution C T intron_variant LUSC-KR 5 14179023 14179023 single base substitution G A intron_variant LUSC-KR 5 14179023 14179023 single base substitution G A upstream_gene_variant LUSC-KR 5 14180613 14180613 single base substitution G T intron_variant LUSC-KR 5 14180613 14180613 single base substitution G T upstream_gene_variant LUSC-KR 5 14181697 14181697 single base substitution G T intron_variant LUSC-KR 5 14181697 14181697 single base substitution G T upstream_gene_variant LUSC-KR 5 14181734 14181734 single base substitution C T intron_variant LUSC-KR 5 14181734 14181734 single base substitution C T upstream_gene_variant LUSC-KR 5 14186717 14186717 single base substitution C G intron_variant LUSC-KR 5 14200597 14200597 single base substitution A T intron_variant LUSC-KR 5 14202496 14202496 single base substitution C G intron_variant LUSC-KR 5 14205148 14205148 single base substitution G T intron_variant LUSC-KR 5 14221873 14221873 single base substitution G A intron_variant LUSC-KR 5 14224007 14224007 single base substitution A G intron_variant LUSC-KR 5 14224855 14224855 single base substitution G T intron_variant LUSC-KR 5 14224859 14224859 single base substitution C G intron_variant LUSC-KR 5 14226625 14226625 single base substitution G C intron_variant LUSC-KR 5 14226922 14226922 single base substitution G T intron_variant LUSC-KR 5 14227131 14227131 single base substitution C G intron_variant LUSC-KR 5 14234380 14234380 single base substitution G A intron_variant LUSC-KR 5 14235363 14235363 single base substitution A G intron_variant LUSC-KR 5 14235903 14235903 single base substitution C G intron_variant LUSC-KR 5 14236339 14236339 single base substitution G T intron_variant LUSC-KR 5 14237840 14237840 single base substitution C T intron_variant LUSC-KR 5 14242088 14242088 single base substitution C G intron_variant LUSC-KR 5 14242995 14242995 single base substitution T A intron_variant LUSC-KR 5 14244768 14244768 single base substitution G C intron_variant LUSC-KR 5 14246200 14246200 single base substitution C T intron_variant LUSC-KR 5 14251179 14251179 single base substitution G A intron_variant LUSC-KR 5 14252459 14252459 single base substitution G A intron_variant LUSC-KR 5 14258409 14258409 single base substitution C T intron_variant LUSC-KR 5 14267695 14267695 single base substitution G T intron_variant LUSC-KR 5 14267896 14267896 single base substitution A G intron_variant LUSC-KR 5 14268795 14268795 single base substitution T G intron_variant LUSC-KR 5 14271085 14271085 single base substitution A C intron_variant LUSC-KR 5 14271527 14271527 single base substitution G C intron_variant LUSC-KR 5 14271534 14271534 single base substitution C A intron_variant LUSC-KR 5 14273110 14273110 single base substitution C T intron_variant LUSC-KR 5 14274931 14274931 single base substitution A G intron_variant LUSC-KR 5 14276074 14276074 single base substitution T C intron_variant LUSC-KR 5 14277421 14277421 single base substitution C A intron_variant LUSC-KR 5 14280993 14280993 single base substitution A T intron_variant LUSC-KR 5 14283431 14283431 single base substitution C T intron_variant LUSC-KR 5 14288045 14288045 single base substitution C T downstream_gene_variant LUSC-KR 5 14288045 14288045 single base substitution C T intron_variant LUSC-KR 5 14288045 14288045 single base substitution C T upstream_gene_variant LUSC-KR 5 14290174 14290174 single base substitution C G downstream_gene_variant LUSC-KR 5 14290174 14290174 single base substitution C G intron_variant LUSC-KR 5 14290174 14290174 single base substitution C G upstream_gene_variant LUSC-KR 5 14296678 14296678 single base substitution G T intron_variant LUSC-KR 5 14299453 14299453 single base substitution A G downstream_gene_variant LUSC-KR 5 14299453 14299453 single base substitution A G intron_variant LUSC-KR 5 14303005 14303005 single base substitution G A intron_variant LUSC-KR 5 14303152 14303152 single base substitution C T intron_variant LUSC-KR 5 14303368 14303368 single base substitution C T intron_variant LUSC-KR 5 14306824 14306824 single base substitution T C intron_variant LUSC-KR 5 14310672 14310672 single base substitution G T intron_variant LUSC-KR 5 14310843 14310843 single base substitution G T intron_variant LUSC-KR 5 14321972 14321972 single base substitution G C intron_variant LUSC-KR 5 14322808 14322808 single base substitution G T intron_variant LUSC-KR 5 14323041 14323041 single base substitution C A intron_variant LUSC-KR 5 14324749 14324749 single base substitution C T intron_variant LUSC-KR 5 14328739 14328739 single base substitution G T intron_variant LUSC-KR 5 14328942 14328942 single base substitution G A intron_variant LUSC-KR 5 14330767 14330767 single base substitution C T intron_variant LUSC-KR 5 14331497 14331497 single base substitution T G intron_variant LUSC-KR 5 14331977 14331977 single base substitution G T intron_variant LUSC-KR 5 14334121 14334121 single base substitution C T intron_variant LUSC-KR 5 14335527 14335527 single base substitution A T intron_variant LUSC-KR 5 14339680 14339680 single base substitution C T intron_variant LUSC-KR 5 14341680 14341680 single base substitution G A intron_variant LUSC-KR 5 14348868 14348868 single base substitution A T intron_variant LUSC-KR 5 14348911 14348911 single base substitution G T intron_variant LUSC-KR 5 14349762 14349762 single base substitution C T intron_variant LUSC-KR 5 14353401 14353401 single base substitution G T intron_variant LUSC-KR 5 14356412 14356412 single base substitution G T intron_variant LUSC-KR 5 14357453 14357453 single base substitution G T intron_variant LUSC-KR 5 14359990 14359990 single base substitution C T intron_variant LUSC-KR 5 14361514 14361514 single base substitution T C intron_variant LUSC-KR 5 14362621 14362621 single base substitution A G intron_variant LUSC-KR 5 14362763 14362763 single base substitution G C intron_variant LUSC-KR 5 14364507 14364507 single base substitution G A intron_variant LUSC-KR 5 14368169 14368169 single base substitution A G intron_variant LUSC-KR 5 14371226 14371226 single base substitution C T intron_variant LUSC-KR 5 14377207 14377207 single base substitution C T intron_variant LUSC-KR 5 14380876 14380876 single base substitution C G intron_variant LUSC-KR 5 14382887 14382887 single base substitution T A intron_variant LUSC-KR 5 14382887 14382887 single base substitution T A upstream_gene_variant LUSC-KR 5 14383087 14383087 single base substitution A T intron_variant LUSC-KR 5 14383087 14383087 single base substitution A T upstream_gene_variant LUSC-KR 5 14384741 14384741 single base substitution A T intron_variant LUSC-KR 5 14384741 14384741 single base substitution A T upstream_gene_variant LUSC-KR 5 14389953 14389953 single base substitution G A downstream_gene_variant LUSC-KR 5 14389953 14389953 single base substitution G A intron_variant LUSC-KR 5 14395795 14395795 single base substitution T G intron_variant LUSC-KR 5 14395795 14395795 single base substitution T G upstream_gene_variant LUSC-KR 5 14399556 14399556 single base substitution A T downstream_gene_variant LUSC-KR 5 14399556 14399556 single base substitution A T intron_variant LUSC-KR 5 14403437 14403437 single base substitution T C downstream_gene_variant LUSC-KR 5 14403437 14403437 single base substitution T C intron_variant LUSC-KR 5 14403437 14403437 single base substitution T C upstream_gene_variant LUSC-KR 5 14403971 14403971 single base substitution C G downstream_gene_variant LUSC-KR 5 14403971 14403971 single base substitution C G intron_variant LUSC-KR 5 14403971 14403971 single base substitution C G upstream_gene_variant LUSC-KR 5 14404611 14404611 single base substitution A T intron_variant LUSC-KR 5 14404611 14404611 single base substitution A T upstream_gene_variant LUSC-KR 5 14408631 14408631 single base substitution G A intron_variant LUSC-KR 5 14418725 14418725 single base substitution G A intron_variant LUSC-KR 5 14418725 14418725 single base substitution G A upstream_gene_variant LUSC-KR 5 14419075 14419075 single base substitution A T intron_variant LUSC-KR 5 14419075 14419075 single base substitution A T upstream_gene_variant LUSC-KR 5 14419303 14419303 single base substitution G A intron_variant LUSC-KR 5 14419303 14419303 single base substitution G A upstream_gene_variant LUSC-KR 5 14430273 14430273 single base substitution T C intron_variant LUSC-KR 5 14430808 14430808 single base substitution A G intron_variant LUSC-KR 5 14436289 14436289 single base substitution G A intron_variant LUSC-KR 5 14436289 14436289 single base substitution G A upstream_gene_variant LUSC-KR 5 14436929 14436929 single base substitution C A intron_variant LUSC-KR 5 14436929 14436929 single base substitution C A upstream_gene_variant LUSC-KR 5 14437057 14437057 single base substitution G T intron_variant LUSC-KR 5 14437057 14437057 single base substitution G T upstream_gene_variant LUSC-KR 5 14439403 14439403 single base substitution A C intron_variant LUSC-KR 5 14439403 14439403 single base substitution A C upstream_gene_variant LUSC-KR 5 14440522 14440522 single base substitution C G intron_variant LUSC-KR 5 14440522 14440522 single base substitution C G upstream_gene_variant LUSC-KR 5 14446244 14446244 single base substitution G T intron_variant LUSC-KR 5 14446765 14446765 single base substitution C T intron_variant LUSC-KR 5 14447105 14447105 single base substitution C T intron_variant LUSC-KR 5 14448381 14448381 single base substitution C G intron_variant LUSC-KR 5 14448404 14448404 single base substitution G A intron_variant LUSC-KR 5 14449850 14449850 single base substitution G T intron_variant LUSC-KR 5 14450451 14450451 single base substitution G C intron_variant LUSC-KR 5 14455113 14455113 single base substitution G A intron_variant LUSC-KR 5 14458464 14458464 single base substitution C T intron_variant LUSC-KR 5 14460757 14460757 single base substitution G T intron_variant LUSC-KR 5 14461351 14461351 single base substitution C T exon_variant LUSC-KR 5 14461351 14461351 single base substitution C T synonymous_variant S1542S 4626C>T LUSC-KR 5 14461351 14461351 single base substitution C T synonymous_variant S1809S 5427C>T LUSC-KR 5 14462199 14462199 single base substitution G A intron_variant LUSC-KR 5 14462816 14462816 single base substitution C T intron_variant LUSC-KR 5 14464956 14464956 single base substitution A G intron_variant LUSC-KR 5 14467442 14467442 single base substitution T A downstream_gene_variant LUSC-KR 5 14467442 14467442 single base substitution T A intron_variant LUSC-KR 5 14467443 14467443 single base substitution G T downstream_gene_variant LUSC-KR 5 14467443 14467443 single base substitution G T intron_variant LUSC-KR 5 14468297 14468297 single base substitution G T downstream_gene_variant LUSC-KR 5 14468297 14468297 single base substitution G T intron_variant LUSC-KR 5 14469461 14469461 single base substitution A T downstream_gene_variant LUSC-KR 5 14469461 14469461 single base substitution A T intron_variant LUSC-KR 5 14469461 14469461 single base substitution A T upstream_gene_variant LUSC-KR 5 14470785 14470785 single base substitution G A downstream_gene_variant LUSC-KR 5 14470785 14470785 single base substitution G A intron_variant LUSC-KR 5 14470785 14470785 single base substitution G A upstream_gene_variant LUSC-KR 5 14471480 14471480 single base substitution C G downstream_gene_variant LUSC-KR 5 14471480 14471480 single base substitution C G exon_variant LUSC-KR 5 14471480 14471480 single base substitution C G missense_variant S1672R 5016C>G LUSC-KR 5 14471480 14471480 single base substitution C G missense_variant S1939R 5817C>G LUSC-KR 5 14471480 14471480 single base substitution C G upstream_gene_variant LUSC-KR 5 14473768 14473768 single base substitution G T intron_variant LUSC-KR 5 14473768 14473768 single base substitution G T upstream_gene_variant LUSC-KR 5 14479323 14479323 single base substitution G T downstream_gene_variant LUSC-KR 5 14479323 14479323 single base substitution G T intron_variant LUSC-KR 5 14479323 14479323 single base substitution G T upstream_gene_variant LUSC-KR 5 14479938 14479938 single base substitution G A downstream_gene_variant LUSC-KR 5 14479938 14479938 single base substitution G A intron_variant LUSC-KR 5 14479938 14479938 single base substitution G A upstream_gene_variant LUSC-KR 5 14480895 14480895 single base substitution T C downstream_gene_variant LUSC-KR 5 14480895 14480895 single base substitution T C intron_variant LUSC-KR 5 14480895 14480895 single base substitution T C upstream_gene_variant LUSC-KR 5 14481725 14481725 single base substitution G T downstream_gene_variant LUSC-KR 5 14481725 14481725 single base substitution G T exon_variant LUSC-KR 5 14481725 14481725 single base substitution G T missense_variant D1888Y 5662G>T LUSC-KR 5 14481725 14481725 single base substitution G T missense_variant D2155Y 6463G>T LUSC-KR 5 14481725 14481725 single base substitution G T splice_region_variant LUSC-KR 5 14481725 14481725 single base substitution G T upstream_gene_variant LUSC-KR 5 14483769 14483769 single base substitution T C downstream_gene_variant LUSC-KR 5 14483769 14483769 single base substitution T C intron_variant LUSC-KR 5 14483769 14483769 single base substitution T C upstream_gene_variant LUSC-KR 5 14483911 14483911 single base substitution A T downstream_gene_variant LUSC-KR 5 14483911 14483911 single base substitution A T intron_variant LUSC-KR 5 14483911 14483911 single base substitution A T upstream_gene_variant LUSC-KR 5 14485637 14485637 single base substitution G T downstream_gene_variant LUSC-KR 5 14485637 14485637 single base substitution G T intron_variant LUSC-KR 5 14485637 14485637 single base substitution G T upstream_gene_variant LUSC-KR 5 14486988 14486988 single base substitution G A intron_variant LUSC-KR 5 14486988 14486988 single base substitution G A upstream_gene_variant LUSC-KR 5 14496246 14496246 single base substitution G T intron_variant LUSC-KR 5 14496246 14496246 single base substitution G T upstream_gene_variant LUSC-KR 5 14496897 14496897 single base substitution G A intron_variant LUSC-KR 5 14496897 14496897 single base substitution G A upstream_gene_variant LUSC-KR 5 14497052 14497052 single base substitution G T 3_prime_UTR_variant LUSC-KR 5 14497052 14497052 single base substitution G T exon_variant LUSC-KR 5 14497052 14497052 single base substitution G T missense_variant G148C 442G>T LUSC-KR 5 14497052 14497052 single base substitution G T missense_variant G2382C 7144G>T LUSC-KR 5 14497052 14497052 single base substitution G T missense_variant G2473C 7417G>T LUSC-KR 5 14497052 14497052 single base substitution G T missense_variant G2649C 7945G>T LUSC-KR 5 14497052 14497052 single base substitution G T upstream_gene_variant LUSC-KR 5 14498775 14498775 single base substitution A G downstream_gene_variant LUSC-KR 5 14498775 14498775 single base substitution A G exon_variant LUSC-KR 5 14498775 14498775 single base substitution A G intron_variant LUSC-KR 5 14500179 14500179 single base substitution G A downstream_gene_variant LUSC-KR 5 14500179 14500179 single base substitution G A intron_variant LUSC-KR 5 14507240 14507240 single base substitution G A 3_prime_UTR_variant LUSC-KR 5 14507240 14507240 single base substitution G A downstream_gene_variant LUSC-KR 5 14507240 14507240 single base substitution G A intron_variant LUSC-KR 5 14507240 14507240 single base substitution G A synonymous_variant Q2698Q 8094G>A LUSC-KR 5 14507240 14507240 single base substitution G A synonymous_variant Q2874Q 8622G>A LUSC-KR 5 14507240 14507240 single base substitution G A synonymous_variant Q373Q 1119G>A LUSC-KR 5 14508550 14508550 single base substitution C G 3_prime_UTR_variant LUSC-KR 5 14508550 14508550 single base substitution C G downstream_gene_variant LUSC-KR 5 14508550 14508550 single base substitution C G intron_variant LUSC-KR 5 14508971 14508971 single base substitution A G 3_prime_UTR_variant LUSC-KR 5 14508971 14508971 single base substitution A G downstream_gene_variant LUSC-KR 5 14508971 14508971 single base substitution A G intron_variant LUSC-KR 5 14512262 14512262 single base substitution G T downstream_gene_variant LUSC-KR 5 14512262 14512262 single base substitution G T intron_variant LUSC-KR 5 14512704 14512704 single base substitution T C downstream_gene_variant LUSC-KR 5 14512704 14512704 single base substitution T C intron_variant LUSC-KR 5 14514040 14514040 single base substitution G C downstream_gene_variant LUSC-KR 5 14514040 14514040 single base substitution G C intron_variant LUSC-KR 5 14515223 14515223 single base substitution G C downstream_gene_variant LUSC-KR 5 14515223 14515223 single base substitution G C intron_variant LUSC-KR 5 14517159 14517159 single base substitution C G intron_variant LUSC-KR 5 14522901 14522901 single base substitution G T intron_variant LUSC-KR 5 14526220 14526220 single base substitution G T intron_variant LUSC-KR 5 14526407 14526407 single base substitution G T intron_variant LUSC-KR 5 14526408 14526408 single base substitution G T intron_variant LUSC-KR 5 14527007 14527007 single base substitution G T intron_variant LUSC-KR 5 14530057 14530057 single base substitution G T intron_variant LUSC-KR 5 14530082 14530082 single base substitution A G intron_variant LUSC-KR 5 14530575 14530575 single base substitution A G intron_variant LUSC-KR 5 14531872 14531872 single base substitution T A missense_variant S2544T 7630T>A LUSC-KR 5 14532829 14532829 single base substitution G C downstream_gene_variant LUSC-US 5 14286983 14286983 single base substitution G A exon_variant LUSC-US 5 14286983 14286983 single base substitution G A synonymous_variant E117E 351G>A LUSC-US 5 14286983 14286983 single base substitution G A synonymous_variant E68E 204G>A LUSC-US 5 14286983 14286983 single base substitution G A upstream_gene_variant LUSC-US 5 14297283 14297283 single base substitution G C exon_variant LUSC-US 5 14297283 14297283 single base substitution G C missense_variant E160Q 478G>C LUSC-US 5 14297283 14297283 single base substitution G C missense_variant E378Q 1132G>C LUSC-US 5 14297283 14297283 single base substitution G C missense_variant E427Q 1279G>C LUSC-US 5 14330959 14330959 single base substitution C G exon_variant LUSC-US 5 14330959 14330959 single base substitution C G missense_variant R335G 1003C>G LUSC-US 5 14330959 14330959 single base substitution C G missense_variant R553G 1657C>G LUSC-US 5 14330959 14330959 single base substitution C G missense_variant R602G 1804C>G LUSC-US 5 14331006 14331006 single base substitution A G exon_variant LUSC-US 5 14331006 14331006 single base substitution A G synonymous_variant A350A 1050A>G LUSC-US 5 14331006 14331006 single base substitution A G synonymous_variant A568A 1704A>G LUSC-US 5 14331006 14331006 single base substitution A G synonymous_variant A617A 1851A>G LUSC-US 5 14336720 14336720 single base substitution G C exon_variant LUSC-US 5 14336720 14336720 single base substitution G C missense_variant E377Q 1129G>C LUSC-US 5 14336720 14336720 single base substitution G C missense_variant E595Q 1783G>C LUSC-US 5 14336720 14336720 single base substitution G C missense_variant E644Q 1930G>C LUSC-US 5 14374354 14374354 single base substitution G A exon_variant LUSC-US 5 14374354 14374354 single base substitution G A missense_variant R1029Q 3086G>A LUSC-US 5 14374354 14374354 single base substitution G A missense_variant R1078Q 3233G>A LUSC-US 5 14374354 14374354 single base substitution G A missense_variant R811Q 2432G>A LUSC-US 5 14378141 14378141 single base substitution C A exon_variant LUSC-US 5 14378141 14378141 single base substitution C A missense_variant Q1069K 3205C>A LUSC-US 5 14378141 14378141 single base substitution C A missense_variant Q1118K 3352C>A LUSC-US 5 14378141 14378141 single base substitution C A missense_variant Q851K 2551C>A LUSC-US 5 14389424 14389424 single base substitution C A downstream_gene_variant LUSC-US 5 14389424 14389424 single base substitution C A exon_variant LUSC-US 5 14389424 14389424 single base substitution C A synonymous_variant G1058G 3174C>A LUSC-US 5 14389424 14389424 single base substitution C A synonymous_variant G1276G 3828C>A LUSC-US 5 14389424 14389424 single base substitution C A synonymous_variant G1325G 3975C>A LUSC-US 5 14465677 14465677 single base substitution C T exon_variant LUSC-US 5 14465677 14465677 single base substitution C T synonymous_variant R1630R 4890C>T LUSC-US 5 14465677 14465677 single base substitution C T synonymous_variant R1897R 5691C>T LUSC-US 5 14485270 14485270 single base substitution T G downstream_gene_variant LUSC-US 5 14485270 14485270 single base substitution T G exon_variant LUSC-US 5 14485270 14485270 single base substitution T G missense_variant I1983M 5949T>G LUSC-US 5 14485270 14485270 single base substitution T G missense_variant I2250M 6750T>G LUSC-US 5 14485270 14485270 single base substitution T G upstream_gene_variant LUSC-US 5 14488200 14488200 single base substitution C G downstream_gene_variant LUSC-US 5 14488200 14488200 single base substitution C G exon_variant LUSC-US 5 14488200 14488200 single base substitution C G intron_variant LUSC-US 5 14488200 14488200 single base substitution C G missense_variant S2221C 6662C>G LUSC-US 5 14488200 14488200 single base substitution C G missense_variant S2488C 7463C>G LUSC-US 5 14488200 14488200 single base substitution C G upstream_gene_variant LUSC-US 5 14498737 14498737 single base substitution C T 3_prime_UTR_variant LUSC-US 5 14498737 14498737 single base substitution C T downstream_gene_variant LUSC-US 5 14498737 14498737 single base substitution C T exon_variant LUSC-US 5 14498737 14498737 single base substitution C T synonymous_variant L2507L 7519C>T LUSC-US 5 14498737 14498737 single base substitution C T synonymous_variant L2598L 7792C>T LUSC-US 5 14498737 14498737 single base substitution C T synonymous_variant L273L 817C>T LUSC-US 5 14498737 14498737 single base substitution C T synonymous_variant L2774L 8320C>T LUSC-US 5 14507302 14507302 single base substitution A T 3_prime_UTR_variant LUSC-US 5 14507302 14507302 single base substitution A T downstream_gene_variant LUSC-US 5 14507302 14507302 single base substitution A T intron_variant LUSC-US 5 14507302 14507302 single base substitution A T missense_variant H2719L 8156A>T LUSC-US 5 14507302 14507302 single base substitution A T missense_variant H2895L 8684A>T LUSC-US 5 14507302 14507302 single base substitution A T missense_variant H394L 1181A>T MALY-DE 5 14139537 14139537 single base substitution T C upstream_gene_variant MALY-DE 5 14140453 14140453 single base substitution C T upstream_gene_variant MALY-DE 5 14143212 14143212 single base substitution C T upstream_gene_variant MALY-DE 5 14144108 14144108 single base substitution G A intron_variant MALY-DE 5 14146552 14146552 single base substitution A T intron_variant MALY-DE 5 14149509 14149509 single base substitution A G intron_variant MALY-DE 5 14154564 14154564 insertion of <=200bp - T intron_variant MALY-DE 5 14157641 14157641 single base substitution C T intron_variant MALY-DE 5 14164708 14164708 single base substitution A G intron_variant MALY-DE 5 14166042 14166042 single base substitution C T intron_variant MALY-DE 5 14169989 14169989 single base substitution T G intron_variant MALY-DE 5 14170561 14170561 single base substitution C T intron_variant MALY-DE 5 14171225 14171225 single base substitution A C intron_variant MALY-DE 5 14171525 14171525 single base substitution C T intron_variant MALY-DE 5 14171873 14171873 single base substitution A C intron_variant MALY-DE 5 14172615 14172615 single base substitution A T intron_variant MALY-DE 5 14173919 14173919 single base substitution A T intron_variant MALY-DE 5 14174785 14174785 single base substitution T G intron_variant MALY-DE 5 14184715 14184715 single base substitution A T intron_variant MALY-DE 5 14186924 14186924 single base substitution T C intron_variant MALY-DE 5 14188901 14188901 single base substitution G A intron_variant MALY-DE 5 14194352 14194352 single base substitution T A intron_variant MALY-DE 5 14195123 14195123 deletion of <=200bp T - intron_variant MALY-DE 5 14195133 14195133 single base substitution T A intron_variant MALY-DE 5 14200724 14200724 single base substitution A G intron_variant MALY-DE 5 14202228 14202228 single base substitution T A intron_variant MALY-DE 5 14204474 14204474 single base substitution T C intron_variant MALY-DE 5 14207821 14207822 deletion of <=200bp AG - intron_variant MALY-DE 5 14209626 14209626 single base substitution T A intron_variant MALY-DE 5 14211128 14211128 single base substitution T G intron_variant MALY-DE 5 14211853 14211853 single base substitution C G intron_variant MALY-DE 5 14212061 14212061 deletion of <=200bp A - intron_variant MALY-DE 5 14219673 14219673 single base substitution T G intron_variant MALY-DE 5 14225315 14225315 single base substitution G A intron_variant MALY-DE 5 14225891 14225891 single base substitution C T intron_variant MALY-DE 5 14236985 14236985 single base substitution C T intron_variant MALY-DE 5 14241037 14241037 single base substitution C A intron_variant MALY-DE 5 14241564 14241564 single base substitution A T intron_variant MALY-DE 5 14249340 14249340 single base substitution T G intron_variant MALY-DE 5 14249351 14249351 single base substitution T G intron_variant MALY-DE 5 14257690 14257690 single base substitution C G intron_variant MALY-DE 5 14280208 14280208 single base substitution C A intron_variant MALY-DE 5 14285111 14285111 single base substitution C T intron_variant MALY-DE 5 14291385 14291385 single base substitution C T downstream_gene_variant MALY-DE 5 14291385 14291385 single base substitution C T intron_variant MALY-DE 5 14291385 14291385 single base substitution C T upstream_gene_variant MALY-DE 5 14308388 14308388 single base substitution T G intron_variant MALY-DE 5 14316215 14316215 single base substitution C T intron_variant MALY-DE 5 14317216 14317216 single base substitution G A intron_variant MALY-DE 5 14321521 14321521 single base substitution C T intron_variant MALY-DE 5 14326845 14326845 single base substitution G A intron_variant MALY-DE 5 14327196 14327196 single base substitution G A intron_variant MALY-DE 5 14330739 14330739 single base substitution C G intron_variant MALY-DE 5 14340043 14340043 single base substitution G A intron_variant MALY-DE 5 14343128 14343128 single base substitution C T intron_variant MALY-DE 5 14344993 14344993 single base substitution A C intron_variant MALY-DE 5 14348891 14348891 single base substitution A G intron_variant MALY-DE 5 14349169 14349169 single base substitution C T intron_variant MALY-DE 5 14351413 14351413 single base substitution T G intron_variant MALY-DE 5 14357705 14357705 single base substitution C T intron_variant MALY-DE 5 14360194 14360194 single base substitution C T intron_variant MALY-DE 5 14360903 14360903 single base substitution C T intron_variant MALY-DE 5 14372623 14372623 single base substitution A C intron_variant MALY-DE 5 14375898 14375898 single base substitution T A intron_variant MALY-DE 5 14388355 14388355 single base substitution G A downstream_gene_variant MALY-DE 5 14388355 14388355 single base substitution G A intron_variant MALY-DE 5 14388355 14388355 single base substitution G A upstream_gene_variant MALY-DE 5 14397403 14397403 single base substitution C G exon_variant MALY-DE 5 14397403 14397403 single base substitution C G intron_variant MALY-DE 5 14397403 14397403 single base substitution C G upstream_gene_variant MALY-DE 5 14414753 14414753 single base substitution G A intron_variant MALY-DE 5 14414753 14414753 single base substitution G A upstream_gene_variant MALY-DE 5 14422898 14422898 single base substitution G A downstream_gene_variant MALY-DE 5 14422898 14422898 single base substitution G A intron_variant MALY-DE 5 14441431 14441431 single base substitution G A exon_variant MALY-DE 5 14441431 14441431 single base substitution G A intron_variant MALY-DE 5 14453689 14453689 single base substitution T C intron_variant MALY-DE 5 14454163 14454163 single base substitution C T intron_variant MALY-DE 5 14457962 14457962 single base substitution G A intron_variant MALY-DE 5 14461089 14461089 single base substitution G T intron_variant MALY-DE 5 14462038 14462038 single base substitution T C intron_variant MALY-DE 5 14467616 14467616 single base substitution A T downstream_gene_variant MALY-DE 5 14467616 14467616 single base substitution A T intron_variant MALY-DE 5 14475944 14475944 single base substitution G T intron_variant MALY-DE 5 14475944 14475944 single base substitution G T upstream_gene_variant MALY-DE 5 14477004 14477004 deletion of <=200bp T - frameshift_variant F1762 MALY-DE 5 14477004 14477004 deletion of <=200bp T - frameshift_variant F2029 MALY-DE 5 14477004 14477004 deletion of <=200bp T - splice_region_variant MALY-DE 5 14477004 14477004 deletion of <=200bp T - upstream_gene_variant MALY-DE 5 14481271 14481271 insertion of <=200bp - A downstream_gene_variant MALY-DE 5 14481271 14481271 insertion of <=200bp - A intron_variant MALY-DE 5 14481271 14481271 insertion of <=200bp - A upstream_gene_variant MALY-DE 5 14492565 14492565 single base substitution G A downstream_gene_variant MALY-DE 5 14492565 14492565 single base substitution G A exon_variant MALY-DE 5 14492565 14492565 single base substitution G A intron_variant MALY-DE 5 14500021 14500021 single base substitution G A downstream_gene_variant MALY-DE 5 14500021 14500021 single base substitution G A intron_variant MALY-DE 5 14511699 14511699 single base substitution T C downstream_gene_variant MALY-DE 5 14511699 14511699 single base substitution T C intron_variant MALY-DE 5 14512179 14512179 single base substitution A G downstream_gene_variant MALY-DE 5 14512179 14512179 single base substitution A G intron_variant MALY-DE 5 14512181 14512181 single base substitution A G downstream_gene_variant MALY-DE 5 14512181 14512181 single base substitution A G intron_variant MALY-DE 5 14518090 14518090 single base substitution G T intron_variant MALY-DE 5 14518548 14518548 single base substitution A C intron_variant MALY-DE 5 14519245 14519245 single base substitution G A intron_variant MALY-DE 5 14524150 14524150 single base substitution C T intron_variant MALY-DE 5 14531081 14531081 single base substitution A G intron_variant MALY-DE 5 14533193 14533193 single base substitution G A downstream_gene_variant MALY-DE 5 14535091 14535091 single base substitution T C downstream_gene_variant MELA-AU 5 14138850 14138850 single base substitution C T upstream_gene_variant MELA-AU 5 14138930 14138930 single base substitution G A upstream_gene_variant MELA-AU 5 14138936 14138936 single base substitution T C upstream_gene_variant MELA-AU 5 14138991 14138991 single base substitution C T upstream_gene_variant MELA-AU 5 14139587 14139587 single base substitution C T upstream_gene_variant MELA-AU 5 14140103 14140103 single base substitution C T upstream_gene_variant MELA-AU 5 14140338 14140338 single base substitution C T upstream_gene_variant MELA-AU 5 14140377 14140377 single base substitution A G upstream_gene_variant MELA-AU 5 14140508 14140508 single base substitution C T upstream_gene_variant MELA-AU 5 14141279 14141279 single base substitution G A upstream_gene_variant MELA-AU 5 14141621 14141621 single base substitution C T upstream_gene_variant MELA-AU 5 14141720 14141720 single base substitution C T upstream_gene_variant MELA-AU 5 14142357 14142357 single base substitution G A upstream_gene_variant MELA-AU 5 14143196 14143196 single base substitution G A upstream_gene_variant MELA-AU 5 14143280 14143280 single base substitution C T upstream_gene_variant MELA-AU 5 14145828 14145828 single base substitution G C intron_variant MELA-AU 5 14146147 14146147 single base substitution C T intron_variant MELA-AU 5 14146333 14146334 multiple base substitution (>=2bp and <=200bp) AG TC intron_variant MELA-AU 5 14146992 14146992 single base substitution C T intron_variant MELA-AU 5 14147327 14147327 single base substitution A G intron_variant MELA-AU 5 14148041 14148041 single base substitution A T intron_variant MELA-AU 5 14148215 14148215 single base substitution T G intron_variant MELA-AU 5 14148376 14148376 single base substitution T G intron_variant MELA-AU 5 14148598 14148598 single base substitution C T intron_variant MELA-AU 5 14148710 14148710 single base substitution C T intron_variant MELA-AU 5 14148960 14148960 single base substitution T C intron_variant MELA-AU 5 14149122 14149122 single base substitution C T intron_variant MELA-AU 5 14150335 14150335 single base substitution A G intron_variant MELA-AU 5 14150748 14150748 single base substitution C A intron_variant MELA-AU 5 14151495 14151495 single base substitution T G intron_variant MELA-AU 5 14152038 14152038 single base substitution T G intron_variant MELA-AU 5 14152466 14152469 deletion of <=200bp TTTT - intron_variant MELA-AU 5 14152541 14152541 single base substitution G A intron_variant MELA-AU 5 14153080 14153080 single base substitution C T intron_variant MELA-AU 5 14154226 14154226 single base substitution G A intron_variant MELA-AU 5 14155016 14155016 single base substitution C T intron_variant MELA-AU 5 14155050 14155050 single base substitution C T intron_variant MELA-AU 5 14156226 14156226 single base substitution C A intron_variant MELA-AU 5 14156742 14156743 multiple base substitution (>=2bp and <=200bp) CC TG intron_variant MELA-AU 5 14157077 14157077 single base substitution G A intron_variant MELA-AU 5 14157185 14157185 single base substitution A T intron_variant MELA-AU 5 14157757 14157757 single base substitution T C intron_variant MELA-AU 5 14158077 14158077 single base substitution A G intron_variant MELA-AU 5 14161269 14161269 single base substitution C T intron_variant MELA-AU 5 14161369 14161369 single base substitution C T intron_variant MELA-AU 5 14162421 14162421 single base substitution G A intron_variant MELA-AU 5 14163378 14163378 single base substitution T G intron_variant MELA-AU 5 14164452 14164452 single base substitution A T intron_variant MELA-AU 5 14165195 14165195 single base substitution C T intron_variant MELA-AU 5 14165791 14165791 single base substitution C T intron_variant MELA-AU 5 14165879 14165879 single base substitution C T intron_variant MELA-AU 5 14166446 14166446 single base substitution C T intron_variant MELA-AU 5 14166818 14166818 single base substitution G A intron_variant MELA-AU 5 14167406 14167406 single base substitution C T intron_variant MELA-AU 5 14169393 14169393 single base substitution C T intron_variant MELA-AU 5 14170337 14170337 single base substitution T A intron_variant MELA-AU 5 14171269 14171269 single base substitution C T intron_variant MELA-AU 5 14171286 14171286 single base substitution C T intron_variant MELA-AU 5 14171825 14171826 deletion of <=200bp TC - intron_variant MELA-AU 5 14174530 14174530 single base substitution C T intron_variant MELA-AU 5 14174825 14174825 single base substitution C T intron_variant MELA-AU 5 14174921 14174921 single base substitution C T intron_variant MELA-AU 5 14175534 14175534 single base substitution C A intron_variant MELA-AU 5 14176161 14176161 single base substitution C T intron_variant MELA-AU 5 14176282 14176282 single base substitution C T intron_variant MELA-AU 5 14176435 14176435 single base substitution C T intron_variant MELA-AU 5 14176785 14176785 single base substitution C T intron_variant MELA-AU 5 14178505 14178505 single base substitution G A intron_variant MELA-AU 5 14179272 14179272 single base substitution T C intron_variant MELA-AU 5 14179272 14179272 single base substitution T C upstream_gene_variant MELA-AU 5 14180438 14180438 single base substitution T C intron_variant MELA-AU 5 14180438 14180438 single base substitution T C upstream_gene_variant MELA-AU 5 14181028 14181029 multiple base substitution (>=2bp and <=200bp) TA CT intron_variant MELA-AU 5 14181028 14181029 multiple base substitution (>=2bp and <=200bp) TA CT upstream_gene_variant MELA-AU 5 14183183 14183183 single base substitution C T intron_variant MELA-AU 5 14183183 14183183 single base substitution C T upstream_gene_variant MELA-AU 5 14183427 14183427 single base substitution T C intron_variant MELA-AU 5 14183427 14183427 single base substitution T C upstream_gene_variant MELA-AU 5 14183767 14183767 single base substitution C T intron_variant MELA-AU 5 14183767 14183767 single base substitution C T upstream_gene_variant MELA-AU 5 14183773 14183773 single base substitution C T intron_variant MELA-AU 5 14183773 14183773 single base substitution C T upstream_gene_variant MELA-AU 5 14185259 14185259 single base substitution C T intron_variant MELA-AU 5 14185265 14185265 single base substitution C T intron_variant MELA-AU 5 14186538 14186539 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 14186938 14186938 single base substitution C T intron_variant MELA-AU 5 14187168 14187168 single base substitution C T intron_variant MELA-AU 5 14187262 14187262 single base substitution T G intron_variant MELA-AU 5 14187333 14187334 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 14187647 14187647 single base substitution C T intron_variant MELA-AU 5 14188487 14188487 single base substitution A T intron_variant MELA-AU 5 14189407 14189407 single base substitution C T intron_variant MELA-AU 5 14192287 14192287 single base substitution C T intron_variant MELA-AU 5 14192480 14192480 single base substitution C T intron_variant MELA-AU 5 14193586 14193586 single base substitution C T intron_variant MELA-AU 5 14194121 14194121 single base substitution C T intron_variant MELA-AU 5 14194276 14194276 single base substitution C T intron_variant MELA-AU 5 14194338 14194338 single base substitution T C intron_variant MELA-AU 5 14194844 14194844 single base substitution T C intron_variant MELA-AU 5 14195097 14195097 single base substitution C T intron_variant MELA-AU 5 14195271 14195271 single base substitution C T intron_variant MELA-AU 5 14197024 14197024 single base substitution C T intron_variant MELA-AU 5 14197035 14197035 single base substitution G A intron_variant MELA-AU 5 14197169 14197169 single base substitution G A intron_variant MELA-AU 5 14197553 14197553 single base substitution C T intron_variant MELA-AU 5 14198465 14198465 single base substitution C T intron_variant MELA-AU 5 14198718 14198718 single base substitution C T intron_variant MELA-AU 5 14198979 14198979 single base substitution C T intron_variant MELA-AU 5 14200376 14200376 single base substitution C T intron_variant MELA-AU 5 14200496 14200496 single base substitution T C intron_variant MELA-AU 5 14200596 14200596 single base substitution C T intron_variant MELA-AU 5 14200689 14200689 single base substitution C T intron_variant MELA-AU 5 14200960 14200960 single base substitution C T intron_variant MELA-AU 5 14201010 14201010 single base substitution C T intron_variant MELA-AU 5 14201011 14201011 single base substitution C T intron_variant MELA-AU 5 14201252 14201252 single base substitution C T intron_variant MELA-AU 5 14202064 14202064 single base substitution C T intron_variant MELA-AU 5 14202468 14202468 single base substitution A G intron_variant MELA-AU 5 14202609 14202609 single base substitution A G intron_variant MELA-AU 5 14202875 14202875 single base substitution A T intron_variant MELA-AU 5 14203126 14203126 single base substitution C T intron_variant MELA-AU 5 14203487 14203487 single base substitution C T intron_variant MELA-AU 5 14203919 14203919 single base substitution C T intron_variant MELA-AU 5 14204991 14204991 single base substitution T C intron_variant MELA-AU 5 14205064 14205064 single base substitution C T intron_variant MELA-AU 5 14205129 14205129 single base substitution C T intron_variant MELA-AU 5 14206153 14206153 single base substitution C T intron_variant MELA-AU 5 14208133 14208133 single base substitution G A intron_variant MELA-AU 5 14209024 14209024 single base substitution G A intron_variant MELA-AU 5 14209438 14209438 single base substitution C T intron_variant MELA-AU 5 14209760 14209760 insertion of <=200bp - AGC intron_variant MELA-AU 5 14210809 14210809 single base substitution A G intron_variant MELA-AU 5 14210824 14210824 single base substitution C T intron_variant MELA-AU 5 14211018 14211018 single base substitution C T intron_variant MELA-AU 5 14211482 14211482 single base substitution C T intron_variant MELA-AU 5 14211844 14211844 single base substitution T G intron_variant MELA-AU 5 14212060 14212060 single base substitution C T intron_variant MELA-AU 5 14212071 14212071 single base substitution A C intron_variant MELA-AU 5 14212470 14212470 single base substitution G A intron_variant MELA-AU 5 14212550 14212550 single base substitution C T intron_variant MELA-AU 5 14212567 14212567 single base substitution C T intron_variant MELA-AU 5 14213642 14213642 single base substitution A G intron_variant MELA-AU 5 14214153 14214153 single base substitution G A intron_variant MELA-AU 5 14216073 14216073 single base substitution A T intron_variant MELA-AU 5 14217010 14217010 single base substitution A G intron_variant MELA-AU 5 14217865 14217865 single base substitution C T intron_variant MELA-AU 5 14217866 14217867 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 14219255 14219255 single base substitution G A intron_variant MELA-AU 5 14222247 14222247 insertion of <=200bp - T intron_variant MELA-AU 5 14222682 14222682 single base substitution G A intron_variant MELA-AU 5 14222879 14222879 single base substitution C T intron_variant MELA-AU 5 14224106 14224106 single base substitution C T intron_variant MELA-AU 5 14225825 14225825 single base substitution C T intron_variant MELA-AU 5 14226271 14226271 single base substitution C T intron_variant MELA-AU 5 14226361 14226361 single base substitution C T intron_variant MELA-AU 5 14227002 14227002 single base substitution C T intron_variant MELA-AU 5 14227416 14227416 single base substitution C G intron_variant MELA-AU 5 14228174 14228174 single base substitution C T intron_variant MELA-AU 5 14228347 14228347 single base substitution C T intron_variant MELA-AU 5 14230192 14230192 single base substitution C G intron_variant MELA-AU 5 14230767 14230767 single base substitution C T intron_variant MELA-AU 5 14231017 14231018 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 14231329 14231329 single base substitution C T intron_variant MELA-AU 5 14231330 14231330 single base substitution C T intron_variant MELA-AU 5 14231654 14231654 single base substitution T G intron_variant MELA-AU 5 14232444 14232444 single base substitution C T intron_variant MELA-AU 5 14232788 14232788 single base substitution G A intron_variant MELA-AU 5 14233203 14233203 single base substitution T C intron_variant MELA-AU 5 14233337 14233337 single base substitution C T intron_variant MELA-AU 5 14233661 14233661 single base substitution C T intron_variant MELA-AU 5 14234043 14234043 single base substitution G A intron_variant MELA-AU 5 14234398 14234398 single base substitution G A intron_variant MELA-AU 5 14234525 14234525 single base substitution C T intron_variant MELA-AU 5 14234721 14234721 single base substitution G A intron_variant MELA-AU 5 14235858 14235859 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 5 14235878 14235878 single base substitution A G intron_variant MELA-AU 5 14236213 14236213 single base substitution T C intron_variant MELA-AU 5 14236713 14236713 single base substitution C T intron_variant MELA-AU 5 14237195 14237195 single base substitution T A intron_variant MELA-AU 5 14237717 14237717 single base substitution C T intron_variant MELA-AU 5 14238148 14238148 single base substitution C T intron_variant MELA-AU 5 14238935 14238935 single base substitution C T intron_variant MELA-AU 5 14239355 14239355 single base substitution G C intron_variant MELA-AU 5 14240088 14240088 single base substitution C T intron_variant MELA-AU 5 14241129 14241129 single base substitution G T intron_variant MELA-AU 5 14241153 14241153 single base substitution T C intron_variant MELA-AU 5 14241859 14241859 single base substitution C T intron_variant MELA-AU 5 14243244 14243244 single base substitution C T intron_variant MELA-AU 5 14243589 14243589 single base substitution G C intron_variant MELA-AU 5 14243879 14243879 single base substitution C T intron_variant MELA-AU 5 14244698 14244698 single base substitution C T intron_variant MELA-AU 5 14245196 14245196 single base substitution A G intron_variant MELA-AU 5 14245646 14245646 single base substitution G T intron_variant MELA-AU 5 14246246 14246246 single base substitution C T intron_variant MELA-AU 5 14246696 14246696 single base substitution G A intron_variant MELA-AU 5 14247189 14247189 single base substitution C T intron_variant MELA-AU 5 14247308 14247308 single base substitution T C intron_variant MELA-AU 5 14248144 14248144 single base substitution C T intron_variant MELA-AU 5 14248388 14248388 single base substitution T A intron_variant MELA-AU 5 14248706 14248706 single base substitution C T intron_variant MELA-AU 5 14248971 14248971 single base substitution G T intron_variant MELA-AU 5 14249392 14249396 deletion of <=200bp GGTGC - intron_variant MELA-AU 5 14250838 14250838 single base substitution C T intron_variant MELA-AU 5 14251137 14251137 single base substitution C T intron_variant MELA-AU 5 14251213 14251214 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 14251370 14251370 single base substitution C T intron_variant MELA-AU 5 14251699 14251699 single base substitution G A intron_variant MELA-AU 5 14252397 14252397 single base substitution C T intron_variant MELA-AU 5 14253199 14253199 single base substitution C T intron_variant MELA-AU 5 14253741 14253741 single base substitution C T intron_variant MELA-AU 5 14254029 14254029 single base substitution C T intron_variant MELA-AU 5 14254552 14254552 single base substitution T C intron_variant MELA-AU 5 14254573 14254573 single base substitution G C intron_variant MELA-AU 5 14255265 14255265 single base substitution G A intron_variant MELA-AU 5 14255419 14255420 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 14255521 14255521 single base substitution A T intron_variant MELA-AU 5 14255608 14255608 single base substitution G A intron_variant MELA-AU 5 14255660 14255660 single base substitution C T intron_variant MELA-AU 5 14255782 14255782 single base substitution C T intron_variant MELA-AU 5 14255788 14255788 single base substitution T G intron_variant MELA-AU 5 14256093 14256093 single base substitution G A intron_variant MELA-AU 5 14257293 14257293 single base substitution C T intron_variant MELA-AU 5 14257711 14257711 single base substitution C T intron_variant MELA-AU 5 14258217 14258217 single base substitution C T intron_variant MELA-AU 5 14258380 14258380 single base substitution C T intron_variant MELA-AU 5 14258477 14258477 single base substitution T C intron_variant MELA-AU 5 14258540 14258540 single base substitution A G intron_variant MELA-AU 5 14259570 14259570 single base substitution C T intron_variant MELA-AU 5 14261247 14261247 single base substitution A T intron_variant MELA-AU 5 14261664 14261664 single base substitution T G intron_variant MELA-AU 5 14261960 14261960 single base substitution C T intron_variant MELA-AU 5 14262786 14262786 single base substitution C T intron_variant MELA-AU 5 14262989 14262989 single base substitution C T intron_variant MELA-AU 5 14263145 14263145 single base substitution G C intron_variant MELA-AU 5 14263198 14263198 single base substitution C T intron_variant MELA-AU 5 14263428 14263428 single base substitution T C intron_variant MELA-AU 5 14263605 14263605 single base substitution C T intron_variant MELA-AU 5 14263648 14263648 single base substitution C T intron_variant MELA-AU 5 14263685 14263685 single base substitution C A intron_variant MELA-AU 5 14264152 14264152 single base substitution C G intron_variant MELA-AU 5 14264327 14264327 single base substitution C G intron_variant MELA-AU 5 14264421 14264433 deletion of <=200bp AGGTATGCTGTTA - intron_variant MELA-AU 5 14264751 14264751 single base substitution C G intron_variant MELA-AU 5 14264805 14264805 single base substitution C G intron_variant MELA-AU 5 14264922 14264922 single base substitution C T intron_variant MELA-AU 5 14264923 14264923 single base substitution C T intron_variant MELA-AU 5 14265904 14265904 single base substitution C T intron_variant MELA-AU 5 14265927 14265927 single base substitution G A intron_variant MELA-AU 5 14267403 14267403 single base substitution A G intron_variant MELA-AU 5 14267884 14267884 single base substitution T A intron_variant MELA-AU 5 14268096 14268096 single base substitution A T intron_variant MELA-AU 5 14268157 14268157 single base substitution T C intron_variant MELA-AU 5 14268177 14268177 single base substitution C T intron_variant MELA-AU 5 14268769 14268769 single base substitution C T intron_variant MELA-AU 5 14268901 14268901 single base substitution G A intron_variant MELA-AU 5 14269244 14269244 single base substitution C T intron_variant MELA-AU 5 14269325 14269325 single base substitution A G intron_variant MELA-AU 5 14269724 14269724 single base substitution C T intron_variant MELA-AU 5 14269729 14269729 single base substitution C T intron_variant MELA-AU 5 14270139 14270139 single base substitution C T intron_variant MELA-AU 5 14270195 14270196 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 14270514 14270514 single base substitution C T intron_variant MELA-AU 5 14270697 14270697 single base substitution G A intron_variant MELA-AU 5 14271002 14271002 single base substitution C T exon_variant MELA-AU 5 14271002 14271002 single base substitution C T missense_variant L27F 79C>T MELA-AU 5 14271002 14271002 single base substitution C T missense_variant L76F 226C>T MELA-AU 5 14271441 14271441 single base substitution C T intron_variant MELA-AU 5 14272343 14272343 single base substitution G A intron_variant MELA-AU 5 14272905 14272905 single base substitution G A intron_variant MELA-AU 5 14273395 14273395 single base substitution C T intron_variant MELA-AU 5 14274045 14274045 single base substitution C T intron_variant MELA-AU 5 14274112 14274112 single base substitution C T intron_variant MELA-AU 5 14274670 14274670 single base substitution C T intron_variant MELA-AU 5 14274929 14274929 single base substitution C T intron_variant MELA-AU 5 14275065 14275065 single base substitution C T intron_variant MELA-AU 5 14275095 14275095 single base substitution G A intron_variant MELA-AU 5 14275118 14275118 single base substitution C T intron_variant MELA-AU 5 14275188 14275188 single base substitution C T intron_variant MELA-AU 5 14275208 14275208 single base substitution C T intron_variant MELA-AU 5 14275584 14275584 single base substitution C T intron_variant MELA-AU 5 14275679 14275680 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 5 14276189 14276189 single base substitution G A intron_variant MELA-AU 5 14276414 14276414 single base substitution G A intron_variant MELA-AU 5 14276523 14276523 single base substitution G A intron_variant MELA-AU 5 14277244 14277244 single base substitution C T intron_variant MELA-AU 5 14278125 14278125 single base substitution C T intron_variant MELA-AU 5 14278565 14278565 single base substitution A G intron_variant MELA-AU 5 14278582 14278582 single base substitution C T intron_variant MELA-AU 5 14279319 14279319 single base substitution C T intron_variant MELA-AU 5 14279750 14279750 single base substitution C T intron_variant MELA-AU 5 14280469 14280470 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 5 14280469 14280470 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P42L 124CC>TT MELA-AU 5 14280469 14280470 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P91L 271CC>TT MELA-AU 5 14280524 14280524 single base substitution C T exon_variant MELA-AU 5 14280524 14280524 single base substitution C T missense_variant S109F 326C>T MELA-AU 5 14280524 14280524 single base substitution C T missense_variant S60F 179C>T MELA-AU 5 14280675 14280675 single base substitution C T intron_variant MELA-AU 5 14282093 14282093 single base substitution C T intron_variant MELA-AU 5 14283519 14283519 single base substitution G A intron_variant MELA-AU 5 14283899 14283899 single base substitution A G intron_variant MELA-AU 5 14284384 14284384 single base substitution C T intron_variant MELA-AU 5 14284403 14284403 single base substitution T A intron_variant MELA-AU 5 14285193 14285193 single base substitution C A intron_variant MELA-AU 5 14285551 14285551 single base substitution T C intron_variant MELA-AU 5 14286323 14286323 single base substitution T A intron_variant MELA-AU 5 14286323 14286323 single base substitution T A upstream_gene_variant MELA-AU 5 14287164 14287164 single base substitution G A exon_variant MELA-AU 5 14287164 14287164 single base substitution G A missense_variant E129K 385G>A MELA-AU 5 14287164 14287164 single base substitution G A missense_variant E178K 532G>A MELA-AU 5 14287164 14287164 single base substitution G A upstream_gene_variant MELA-AU 5 14287454 14287454 single base substitution T G downstream_gene_variant MELA-AU 5 14287454 14287454 single base substitution T G intron_variant MELA-AU 5 14287454 14287454 single base substitution T G upstream_gene_variant MELA-AU 5 14287892 14287892 single base substitution A C downstream_gene_variant MELA-AU 5 14287892 14287892 single base substitution A C intron_variant MELA-AU 5 14287892 14287892 single base substitution A C upstream_gene_variant MELA-AU 5 14288348 14288348 single base substitution A G downstream_gene_variant MELA-AU 5 14288348 14288348 single base substitution A G intron_variant MELA-AU 5 14288348 14288348 single base substitution A G upstream_gene_variant MELA-AU 5 14288351 14288351 single base substitution C T downstream_gene_variant MELA-AU 5 14288351 14288351 single base substitution C T intron_variant MELA-AU 5 14288351 14288351 single base substitution C T upstream_gene_variant MELA-AU 5 14289658 14289658 single base substitution C T downstream_gene_variant MELA-AU 5 14289658 14289658 single base substitution C T intron_variant MELA-AU 5 14289658 14289658 single base substitution C T upstream_gene_variant MELA-AU 5 14289678 14289678 single base substitution C T downstream_gene_variant MELA-AU 5 14289678 14289678 single base substitution C T intron_variant MELA-AU 5 14289678 14289678 single base substitution C T upstream_gene_variant MELA-AU 5 14290062 14290062 single base substitution C T downstream_gene_variant MELA-AU 5 14290062 14290062 single base substitution C T intron_variant MELA-AU 5 14290062 14290062 single base substitution C T upstream_gene_variant MELA-AU 5 14290882 14290882 single base substitution C T downstream_gene_variant MELA-AU 5 14290882 14290882 single base substitution C T exon_variant MELA-AU 5 14290882 14290882 single base substitution C T missense_variant P151S 451C>T MELA-AU 5 14290882 14290882 single base substitution C T missense_variant P200S 598C>T MELA-AU 5 14290882 14290882 single base substitution C T upstream_gene_variant MELA-AU 5 14291664 14291664 single base substitution G A downstream_gene_variant MELA-AU 5 14291664 14291664 single base substitution G A intron_variant MELA-AU 5 14291664 14291664 single base substitution G A upstream_gene_variant MELA-AU 5 14291968 14291968 single base substitution C T downstream_gene_variant MELA-AU 5 14291968 14291968 single base substitution C T intron_variant MELA-AU 5 14291968 14291968 single base substitution C T upstream_gene_variant MELA-AU 5 14292593 14292593 single base substitution C T downstream_gene_variant MELA-AU 5 14292593 14292593 single base substitution C T intron_variant MELA-AU 5 14292593 14292593 single base substitution C T upstream_gene_variant MELA-AU 5 14292895 14292895 single base substitution C T downstream_gene_variant MELA-AU 5 14292895 14292895 single base substitution C T intron_variant MELA-AU 5 14292895 14292895 single base substitution C T upstream_gene_variant MELA-AU 5 14293271 14293271 single base substitution G A downstream_gene_variant MELA-AU 5 14293271 14293271 single base substitution G A intron_variant MELA-AU 5 14294460 14294460 single base substitution T G downstream_gene_variant MELA-AU 5 14294460 14294460 single base substitution T G intron_variant MELA-AU 5 14294506 14294506 single base substitution C T downstream_gene_variant MELA-AU 5 14294506 14294506 single base substitution C T intron_variant MELA-AU 5 14296530 14296530 single base substitution C T intron_variant MELA-AU 5 14296553 14296553 single base substitution G A intron_variant MELA-AU 5 14297147 14297147 single base substitution C T intron_variant MELA-AU 5 14297270 14297270 single base substitution C T exon_variant MELA-AU 5 14297270 14297270 single base substitution C T synonymous_variant I155I 465C>T MELA-AU 5 14297270 14297270 single base substitution C T synonymous_variant I373I 1119C>T MELA-AU 5 14297270 14297270 single base substitution C T synonymous_variant I422I 1266C>T MELA-AU 5 14297525 14297526 deletion of <=200bp CT - exon_variant MELA-AU 5 14297525 14297526 deletion of <=200bp CT - intron_variant MELA-AU 5 14299670 14299670 single base substitution C T downstream_gene_variant MELA-AU 5 14299670 14299670 single base substitution C T intron_variant MELA-AU 5 14299678 14299678 single base substitution T G downstream_gene_variant MELA-AU 5 14299678 14299678 single base substitution T G intron_variant MELA-AU 5 14299705 14299705 single base substitution C T downstream_gene_variant MELA-AU 5 14299705 14299705 single base substitution C T intron_variant MELA-AU 5 14300867 14300867 single base substitution C T downstream_gene_variant MELA-AU 5 14300867 14300867 single base substitution C T intron_variant MELA-AU 5 14301275 14301275 single base substitution C T downstream_gene_variant MELA-AU 5 14301275 14301275 single base substitution C T intron_variant MELA-AU 5 14302267 14302267 single base substitution A T downstream_gene_variant MELA-AU 5 14302267 14302267 single base substitution A T intron_variant MELA-AU 5 14303416 14303416 single base substitution G A intron_variant MELA-AU 5 14304050 14304050 single base substitution A T intron_variant MELA-AU 5 14305722 14305722 single base substitution C T intron_variant MELA-AU 5 14307849 14307849 single base substitution C T intron_variant MELA-AU 5 14308095 14308095 single base substitution T A intron_variant MELA-AU 5 14308175 14308175 single base substitution G A intron_variant MELA-AU 5 14308206 14308206 single base substitution C T intron_variant MELA-AU 5 14308636 14308636 single base substitution C T intron_variant MELA-AU 5 14308744 14308744 single base substitution C T intron_variant MELA-AU 5 14308806 14308806 single base substitution T C intron_variant MELA-AU 5 14308905 14308905 single base substitution T A intron_variant MELA-AU 5 14309835 14309835 single base substitution C T intron_variant MELA-AU 5 14309923 14309923 single base substitution C T intron_variant MELA-AU 5 14310037 14310037 single base substitution G A intron_variant MELA-AU 5 14310350 14310350 single base substitution C T intron_variant MELA-AU 5 14311102 14311102 single base substitution C T intron_variant MELA-AU 5 14311103 14311103 single base substitution C T intron_variant MELA-AU 5 14311755 14311755 single base substitution C T intron_variant MELA-AU 5 14312179 14312179 single base substitution T C intron_variant MELA-AU 5 14312185 14312185 single base substitution C T intron_variant MELA-AU 5 14313886 14313886 single base substitution G A intron_variant MELA-AU 5 14315074 14315074 single base substitution T A intron_variant MELA-AU 5 14315865 14315865 single base substitution A G intron_variant MELA-AU 5 14316068 14316068 single base substitution T G intron_variant MELA-AU 5 14317196 14317196 single base substitution C T intron_variant MELA-AU 5 14317649 14317649 single base substitution C T intron_variant MELA-AU 5 14317983 14317983 single base substitution C T intron_variant MELA-AU 5 14318591 14318591 single base substitution C T intron_variant MELA-AU 5 14318951 14318951 single base substitution C T intron_variant MELA-AU 5 14318959 14318959 single base substitution T G intron_variant MELA-AU 5 14319644 14319644 single base substitution G A intron_variant MELA-AU 5 14319781 14319781 single base substitution A T intron_variant MELA-AU 5 14321235 14321235 single base substitution C T intron_variant MELA-AU 5 14321468 14321468 single base substitution C T intron_variant MELA-AU 5 14321515 14321515 single base substitution C T intron_variant MELA-AU 5 14321783 14321783 single base substitution C T intron_variant MELA-AU 5 14321913 14321913 single base substitution C T intron_variant MELA-AU 5 14321966 14321966 single base substitution A T intron_variant MELA-AU 5 14322165 14322165 single base substitution C T intron_variant MELA-AU 5 14323442 14323442 single base substitution C A intron_variant MELA-AU 5 14323638 14323638 single base substitution G T intron_variant MELA-AU 5 14324771 14324785 deletion of <=200bp TGGGCAGGTTACTTA - intron_variant MELA-AU 5 14324772 14324772 single base substitution G A intron_variant MELA-AU 5 14325266 14325266 single base substitution C T intron_variant MELA-AU 5 14325287 14325287 single base substitution C T intron_variant MELA-AU 5 14325671 14325671 single base substitution C T intron_variant MELA-AU 5 14325843 14325843 single base substitution C G intron_variant MELA-AU 5 14326291 14326291 single base substitution G A intron_variant MELA-AU 5 14326811 14326811 single base substitution C T intron_variant MELA-AU 5 14326844 14326844 single base substitution G A intron_variant MELA-AU 5 14327177 14327177 single base substitution C G intron_variant MELA-AU 5 14327676 14327676 single base substitution C T intron_variant MELA-AU 5 14327864 14327864 single base substitution C T intron_variant MELA-AU 5 14328397 14328397 single base substitution C T intron_variant MELA-AU 5 14329423 14329423 single base substitution C T intron_variant MELA-AU 5 14332316 14332316 single base substitution T C intron_variant MELA-AU 5 14332366 14332366 single base substitution T C intron_variant MELA-AU 5 14332405 14332405 single base substitution A T intron_variant MELA-AU 5 14333007 14333007 single base substitution C T intron_variant MELA-AU 5 14333473 14333473 single base substitution C T intron_variant MELA-AU 5 14333490 14333490 single base substitution G A intron_variant MELA-AU 5 14333735 14333735 single base substitution C T intron_variant MELA-AU 5 14333774 14333774 single base substitution C T intron_variant MELA-AU 5 14334643 14334643 single base substitution C T intron_variant MELA-AU 5 14334700 14334700 single base substitution C T intron_variant MELA-AU 5 14334886 14334886 single base substitution C T intron_variant MELA-AU 5 14335556 14335557 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 5 14335674 14335674 single base substitution A G intron_variant MELA-AU 5 14335993 14335993 single base substitution G A intron_variant MELA-AU 5 14337042 14337042 single base substitution C T intron_variant MELA-AU 5 14337423 14337423 single base substitution C T intron_variant MELA-AU 5 14337490 14337490 single base substitution C T intron_variant MELA-AU 5 14337852 14337852 single base substitution G A intron_variant MELA-AU 5 14338433 14338433 single base substitution C T intron_variant MELA-AU 5 14338434 14338434 single base substitution C T intron_variant MELA-AU 5 14338600 14338600 single base substitution G A intron_variant MELA-AU 5 14339603 14339603 single base substitution C T intron_variant MELA-AU 5 14339736 14339736 single base substitution C T intron_variant MELA-AU 5 14339825 14339825 single base substitution C T intron_variant MELA-AU 5 14340305 14340305 single base substitution C T intron_variant MELA-AU 5 14340331 14340331 single base substitution C T intron_variant MELA-AU 5 14340499 14340499 single base substitution C T intron_variant MELA-AU 5 14341544 14341544 single base substitution C T intron_variant MELA-AU 5 14342274 14342275 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 14342442 14342442 single base substitution C T intron_variant MELA-AU 5 14342542 14342542 single base substitution C T intron_variant MELA-AU 5 14342719 14342719 single base substitution G A intron_variant MELA-AU 5 14342824 14342824 single base substitution A C intron_variant MELA-AU 5 14342990 14342990 single base substitution C T intron_variant MELA-AU 5 14343542 14343542 single base substitution G A intron_variant MELA-AU 5 14343558 14343558 single base substitution T C intron_variant MELA-AU 5 14343898 14343898 single base substitution C T intron_variant MELA-AU 5 14344077 14344078 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 14344300 14344300 single base substitution G A intron_variant MELA-AU 5 14344440 14344440 single base substitution C T intron_variant MELA-AU 5 14345616 14345616 single base substitution C T intron_variant MELA-AU 5 14346479 14346479 single base substitution G A intron_variant MELA-AU 5 14346513 14346513 single base substitution C T intron_variant MELA-AU 5 14347450 14347450 single base substitution T C intron_variant MELA-AU 5 14347718 14347718 single base substitution C T intron_variant MELA-AU 5 14348477 14348477 single base substitution G A intron_variant MELA-AU 5 14348868 14348868 single base substitution A G intron_variant MELA-AU 5 14349206 14349206 single base substitution C T intron_variant MELA-AU 5 14349247 14349247 single base substitution C T intron_variant MELA-AU 5 14349322 14349322 single base substitution C T intron_variant MELA-AU 5 14349415 14349415 single base substitution C T intron_variant MELA-AU 5 14349601 14349601 single base substitution C T intron_variant MELA-AU 5 14349812 14349812 single base substitution C T intron_variant MELA-AU 5 14349973 14349973 single base substitution C T intron_variant MELA-AU 5 14350660 14350660 single base substitution C T intron_variant MELA-AU 5 14350937 14350937 single base substitution C T intron_variant MELA-AU 5 14351126 14351126 single base substitution C T intron_variant MELA-AU 5 14351258 14351258 single base substitution C T intron_variant MELA-AU 5 14351318 14351318 single base substitution T A intron_variant MELA-AU 5 14351326 14351326 single base substitution C T intron_variant MELA-AU 5 14352015 14352015 single base substitution C T intron_variant MELA-AU 5 14352079 14352079 single base substitution G A intron_variant MELA-AU 5 14352086 14352086 single base substitution C T intron_variant MELA-AU 5 14352167 14352167 single base substitution C A intron_variant MELA-AU 5 14352204 14352204 single base substitution C T intron_variant MELA-AU 5 14352720 14352720 single base substitution C T intron_variant MELA-AU 5 14352853 14352853 single base substitution C T intron_variant MELA-AU 5 14352866 14352866 single base substitution C A intron_variant MELA-AU 5 14352995 14352995 deletion of <=200bp G - intron_variant MELA-AU 5 14354019 14354019 single base substitution C T intron_variant MELA-AU 5 14354415 14354415 single base substitution T G intron_variant MELA-AU 5 14354735 14354735 single base substitution T C intron_variant MELA-AU 5 14355540 14355540 single base substitution C T intron_variant MELA-AU 5 14355826 14355826 single base substitution A T intron_variant MELA-AU 5 14355973 14355973 single base substitution C T intron_variant MELA-AU 5 14356083 14356083 single base substitution C T intron_variant MELA-AU 5 14356408 14356408 single base substitution C T intron_variant MELA-AU 5 14357417 14357418 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 14357628 14357628 single base substitution C T intron_variant MELA-AU 5 14357840 14357840 single base substitution G A intron_variant MELA-AU 5 14358475 14358475 single base substitution C T intron_variant MELA-AU 5 14358505 14358505 single base substitution G A intron_variant MELA-AU 5 14358518 14358519 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 14358519 14358519 single base substitution C T intron_variant MELA-AU 5 14358888 14358888 single base substitution T C intron_variant MELA-AU 5 14359155 14359155 single base substitution C T intron_variant MELA-AU 5 14359619 14359619 single base substitution C G exon_variant MELA-AU 5 14359619 14359619 single base substitution C G missense_variant I523M 1569C>G MELA-AU 5 14359619 14359619 single base substitution C G missense_variant I741M 2223C>G MELA-AU 5 14359619 14359619 single base substitution C G missense_variant I790M 2370C>G MELA-AU 5 14359699 14359699 single base substitution C A intron_variant MELA-AU 5 14360043 14360043 single base substitution C A intron_variant MELA-AU 5 14360087 14360087 single base substitution C G intron_variant MELA-AU 5 14360159 14360159 single base substitution C T intron_variant MELA-AU 5 14360450 14360450 single base substitution C G intron_variant MELA-AU 5 14360567 14360567 single base substitution C T intron_variant MELA-AU 5 14360612 14360612 single base substitution C T intron_variant MELA-AU 5 14360784 14360785 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 5 14360894 14360894 single base substitution C T intron_variant MELA-AU 5 14360915 14360915 single base substitution C T intron_variant MELA-AU 5 14361028 14361028 single base substitution C T intron_variant MELA-AU 5 14361085 14361085 single base substitution C G intron_variant MELA-AU 5 14361164 14361164 single base substitution C G intron_variant MELA-AU 5 14361783 14361783 single base substitution C T intron_variant MELA-AU 5 14361905 14361905 single base substitution C T intron_variant MELA-AU 5 14362252 14362252 single base substitution C T intron_variant MELA-AU 5 14363113 14363113 single base substitution T C intron_variant MELA-AU 5 14363402 14363402 single base substitution C T intron_variant MELA-AU 5 14363548 14363548 single base substitution G T intron_variant MELA-AU 5 14364506 14364506 single base substitution C T intron_variant MELA-AU 5 14364901 14364901 single base substitution C T exon_variant MELA-AU 5 14364901 14364901 single base substitution C T synonymous_variant R643R 1929C>T MELA-AU 5 14364901 14364901 single base substitution C T synonymous_variant R861R 2583C>T MELA-AU 5 14364901 14364901 single base substitution C T synonymous_variant R910R 2730C>T MELA-AU 5 14365222 14365222 single base substitution C G intron_variant MELA-AU 5 14365287 14365287 single base substitution T C intron_variant MELA-AU 5 14365362 14365379 deletion of <=200bp ACAAAGTGAAAATGGGAC - intron_variant MELA-AU 5 14365389 14365389 single base substitution G A intron_variant MELA-AU 5 14365770 14365770 single base substitution C T intron_variant MELA-AU 5 14366058 14366058 single base substitution C T intron_variant MELA-AU 5 14366270 14366270 single base substitution A T intron_variant MELA-AU 5 14366567 14366567 single base substitution C T intron_variant MELA-AU 5 14367030 14367030 single base substitution C T exon_variant MELA-AU 5 14367030 14367030 single base substitution C T missense_variant S672L 2015C>T MELA-AU 5 14367030 14367030 single base substitution C T missense_variant S890L 2669C>T MELA-AU 5 14367030 14367030 single base substitution C T missense_variant S939L 2816C>T MELA-AU 5 14367094 14367094 single base substitution G A splice_region_variant MELA-AU 5 14368124 14368124 single base substitution C T intron_variant MELA-AU 5 14368564 14368564 single base substitution C T intron_variant MELA-AU 5 14368650 14368650 single base substitution C T intron_variant MELA-AU 5 14368698 14368698 single base substitution A T intron_variant MELA-AU 5 14368969 14368969 single base substitution C T exon_variant MELA-AU 5 14368969 14368969 single base substitution C T synonymous_variant L1009L 3027C>T MELA-AU 5 14368969 14368969 single base substitution C T synonymous_variant L742L 2226C>T MELA-AU 5 14368969 14368969 single base substitution C T synonymous_variant L960L 2880C>T MELA-AU 5 14369267 14369267 single base substitution G A intron_variant MELA-AU 5 14369569 14369569 single base substitution T A exon_variant MELA-AU 5 14369569 14369569 single base substitution T A synonymous_variant S1002S 3006T>A MELA-AU 5 14369569 14369569 single base substitution T A synonymous_variant S1051S 3153T>A MELA-AU 5 14369569 14369569 single base substitution T A synonymous_variant S784S 2352T>A MELA-AU 5 14369587 14369587 single base substitution G A exon_variant MELA-AU 5 14369587 14369587 single base substitution G A synonymous_variant T1008T 3024G>A MELA-AU 5 14369587 14369587 single base substitution G A synonymous_variant T1057T 3171G>A MELA-AU 5 14369587 14369587 single base substitution G A synonymous_variant T790T 2370G>A MELA-AU 5 14369626 14369626 single base substitution C T exon_variant MELA-AU 5 14369626 14369626 single base substitution C T synonymous_variant F1021F 3063C>T MELA-AU 5 14369626 14369626 single base substitution C T synonymous_variant F1070F 3210C>T MELA-AU 5 14369626 14369626 single base substitution C T synonymous_variant F803F 2409C>T MELA-AU 5 14369674 14369674 single base substitution C T intron_variant MELA-AU 5 14370254 14370254 single base substitution G A intron_variant MELA-AU 5 14370879 14370879 single base substitution C T intron_variant MELA-AU 5 14370918 14370918 single base substitution G C intron_variant MELA-AU 5 14370934 14370934 single base substitution C T intron_variant MELA-AU 5 14371577 14371577 single base substitution T C intron_variant MELA-AU 5 14371641 14371641 single base substitution C T intron_variant MELA-AU 5 14371754 14371754 single base substitution T C intron_variant MELA-AU 5 14371947 14371947 single base substitution C T intron_variant MELA-AU 5 14372858 14372858 single base substitution T A intron_variant MELA-AU 5 14373087 14373087 single base substitution T C intron_variant MELA-AU 5 14373369 14373369 single base substitution G A intron_variant MELA-AU 5 14373447 14373447 single base substitution T C intron_variant MELA-AU 5 14374097 14374097 single base substitution C T intron_variant MELA-AU 5 14374483 14374483 single base substitution C T intron_variant MELA-AU 5 14375157 14375157 single base substitution C T intron_variant MELA-AU 5 14375362 14375362 single base substitution C T intron_variant MELA-AU 5 14375561 14375561 single base substitution C T intron_variant MELA-AU 5 14375576 14375576 single base substitution C T intron_variant MELA-AU 5 14375646 14375646 single base substitution C T intron_variant MELA-AU 5 14375728 14375728 single base substitution A T intron_variant MELA-AU 5 14376137 14376137 single base substitution T C intron_variant MELA-AU 5 14376766 14376766 single base substitution C G intron_variant MELA-AU 5 14376945 14376945 single base substitution C T intron_variant MELA-AU 5 14377277 14377277 single base substitution C T intron_variant MELA-AU 5 14378063 14378063 single base substitution C T intron_variant MELA-AU 5 14378155 14378155 single base substitution G A exon_variant MELA-AU 5 14378155 14378155 single base substitution G A synonymous_variant R1073R 3219G>A MELA-AU 5 14378155 14378155 single base substitution G A synonymous_variant R1122R 3366G>A MELA-AU 5 14378155 14378155 single base substitution G A synonymous_variant R855R 2565G>A MELA-AU 5 14378381 14378381 single base substitution A T intron_variant MELA-AU 5 14379160 14379160 single base substitution C T intron_variant MELA-AU 5 14379576 14379576 single base substitution C T intron_variant MELA-AU 5 14379878 14379878 single base substitution C T intron_variant MELA-AU 5 14379909 14379909 single base substitution C T intron_variant MELA-AU 5 14380077 14380077 single base substitution C T intron_variant MELA-AU 5 14380402 14380402 single base substitution C T intron_variant MELA-AU 5 14380428 14380428 single base substitution C T intron_variant MELA-AU 5 14380580 14380580 single base substitution C T intron_variant MELA-AU 5 14381498 14381498 single base substitution C T intron_variant MELA-AU 5 14381501 14381501 single base substitution C G intron_variant MELA-AU 5 14381519 14381519 single base substitution C T intron_variant MELA-AU 5 14381728 14381728 single base substitution C T intron_variant MELA-AU 5 14381745 14381745 single base substitution C T intron_variant MELA-AU 5 14381948 14381948 single base substitution G A intron_variant MELA-AU 5 14382376 14382376 single base substitution C T intron_variant MELA-AU 5 14382724 14382724 single base substitution C T intron_variant MELA-AU 5 14382724 14382724 single base substitution C T upstream_gene_variant MELA-AU 5 14382840 14382840 single base substitution C T intron_variant MELA-AU 5 14382840 14382840 single base substitution C T upstream_gene_variant MELA-AU 5 14383608 14383608 single base substitution C T intron_variant MELA-AU 5 14383608 14383608 single base substitution C T upstream_gene_variant MELA-AU 5 14383719 14383719 single base substitution C T intron_variant MELA-AU 5 14383719 14383719 single base substitution C T upstream_gene_variant MELA-AU 5 14384627 14384627 single base substitution T C intron_variant MELA-AU 5 14384627 14384627 single base substitution T C upstream_gene_variant MELA-AU 5 14385161 14385161 single base substitution C T intron_variant MELA-AU 5 14385161 14385161 single base substitution C T upstream_gene_variant MELA-AU 5 14386259 14386259 single base substitution C T intron_variant MELA-AU 5 14386259 14386259 single base substitution C T upstream_gene_variant MELA-AU 5 14386337 14386337 single base substitution C T intron_variant MELA-AU 5 14386337 14386337 single base substitution C T upstream_gene_variant MELA-AU 5 14386597 14386597 single base substitution G A intron_variant MELA-AU 5 14386597 14386597 single base substitution G A upstream_gene_variant MELA-AU 5 14387673 14387673 single base substitution C T exon_variant MELA-AU 5 14387673 14387673 single base substitution C T synonymous_variant L1184L 3550C>T MELA-AU 5 14387673 14387673 single base substitution C T synonymous_variant L1233L 3697C>T MELA-AU 5 14387673 14387673 single base substitution C T synonymous_variant L966L 2896C>T MELA-AU 5 14387673 14387673 single base substitution C T upstream_gene_variant MELA-AU 5 14387901 14387901 single base substitution C A exon_variant MELA-AU 5 14387901 14387901 single base substitution C A synonymous_variant R1009R 3025C>A MELA-AU 5 14387901 14387901 single base substitution C A synonymous_variant R1227R 3679C>A MELA-AU 5 14387901 14387901 single base substitution C A synonymous_variant R1276R 3826C>A MELA-AU 5 14387901 14387901 single base substitution C A upstream_gene_variant MELA-AU 5 14387902 14387902 single base substitution G C exon_variant MELA-AU 5 14387902 14387902 single base substitution G C missense_variant R1009P 3026G>C MELA-AU 5 14387902 14387902 single base substitution G C missense_variant R1227P 3680G>C MELA-AU 5 14387902 14387902 single base substitution G C missense_variant R1276P 3827G>C MELA-AU 5 14387902 14387902 single base substitution G C upstream_gene_variant MELA-AU 5 14388163 14388163 single base substitution C A downstream_gene_variant MELA-AU 5 14388163 14388163 single base substitution C A intron_variant MELA-AU 5 14388163 14388163 single base substitution C A upstream_gene_variant MELA-AU 5 14388551 14388551 single base substitution C T downstream_gene_variant MELA-AU 5 14388551 14388551 single base substitution C T intron_variant MELA-AU 5 14388551 14388551 single base substitution C T upstream_gene_variant MELA-AU 5 14389011 14389011 single base substitution C T downstream_gene_variant MELA-AU 5 14389011 14389011 single base substitution C T intron_variant MELA-AU 5 14389620 14389620 single base substitution C T downstream_gene_variant MELA-AU 5 14389620 14389620 single base substitution C T intron_variant MELA-AU 5 14389847 14389847 single base substitution C T downstream_gene_variant MELA-AU 5 14389847 14389847 single base substitution C T intron_variant MELA-AU 5 14389932 14389932 single base substitution C T downstream_gene_variant MELA-AU 5 14389932 14389932 single base substitution C T intron_variant MELA-AU 5 14390599 14390599 single base substitution C T downstream_gene_variant MELA-AU 5 14390599 14390599 single base substitution C T intron_variant MELA-AU 5 14390904 14390904 single base substitution C T downstream_gene_variant MELA-AU 5 14390904 14390904 single base substitution C T intron_variant MELA-AU 5 14391134 14391134 single base substitution C T downstream_gene_variant MELA-AU 5 14391134 14391134 single base substitution C T intron_variant MELA-AU 5 14391513 14391513 single base substitution C T downstream_gene_variant MELA-AU 5 14391513 14391513 single base substitution C T intron_variant MELA-AU 5 14392169 14392169 single base substitution G C downstream_gene_variant MELA-AU 5 14392169 14392169 single base substitution G C intron_variant MELA-AU 5 14392253 14392253 single base substitution C T downstream_gene_variant MELA-AU 5 14392253 14392253 single base substitution C T intron_variant MELA-AU 5 14392903 14392903 single base substitution C T downstream_gene_variant MELA-AU 5 14392903 14392903 single base substitution C T intron_variant MELA-AU 5 14393563 14393563 single base substitution T A intron_variant MELA-AU 5 14394102 14394102 single base substitution T G intron_variant MELA-AU 5 14395980 14395980 single base substitution C T intron_variant MELA-AU 5 14395980 14395980 single base substitution C T upstream_gene_variant MELA-AU 5 14397585 14397585 single base substitution C T downstream_gene_variant MELA-AU 5 14397585 14397585 single base substitution C T intron_variant MELA-AU 5 14397585 14397585 single base substitution C T upstream_gene_variant MELA-AU 5 14397706 14397706 single base substitution G C downstream_gene_variant MELA-AU 5 14397706 14397706 single base substitution G C intron_variant MELA-AU 5 14397706 14397706 single base substitution G C upstream_gene_variant MELA-AU 5 14398509 14398509 single base substitution C T downstream_gene_variant MELA-AU 5 14398509 14398509 single base substitution C T intron_variant MELA-AU 5 14398509 14398509 single base substitution C T upstream_gene_variant MELA-AU 5 14398710 14398710 single base substitution T C downstream_gene_variant MELA-AU 5 14398710 14398710 single base substitution T C intron_variant MELA-AU 5 14398710 14398710 single base substitution T C upstream_gene_variant MELA-AU 5 14398884 14398885 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 14398884 14398885 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 14398884 14398885 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 14399074 14399074 single base substitution G A downstream_gene_variant MELA-AU 5 14399074 14399074 single base substitution G A exon_variant MELA-AU 5 14399074 14399074 single base substitution G A synonymous_variant K1236K 3708G>A MELA-AU 5 14399074 14399074 single base substitution G A synonymous_variant K1454K 4362G>A MELA-AU 5 14399074 14399074 single base substitution G A synonymous_variant K1503K 4509G>A MELA-AU 5 14399074 14399074 single base substitution G A upstream_gene_variant MELA-AU 5 14399096 14399096 single base substitution C T downstream_gene_variant MELA-AU 5 14399096 14399096 single base substitution C T exon_variant MELA-AU 5 14399096 14399096 single base substitution C T missense_variant L1244F 3730C>T MELA-AU 5 14399096 14399096 single base substitution C T missense_variant L1462F 4384C>T MELA-AU 5 14399096 14399096 single base substitution C T missense_variant L1511F 4531C>T MELA-AU 5 14399096 14399096 single base substitution C T upstream_gene_variant MELA-AU 5 14399465 14399465 single base substitution C T 3_prime_UTR_variant MELA-AU 5 14399465 14399465 single base substitution C T downstream_gene_variant MELA-AU 5 14399465 14399465 single base substitution C T intron_variant MELA-AU 5 14399668 14399668 single base substitution A G downstream_gene_variant MELA-AU 5 14399668 14399668 single base substitution A G intron_variant MELA-AU 5 14399789 14399789 single base substitution T C downstream_gene_variant MELA-AU 5 14399789 14399789 single base substitution T C intron_variant MELA-AU 5 14400234 14400234 single base substitution C T downstream_gene_variant MELA-AU 5 14400234 14400234 single base substitution C T intron_variant MELA-AU 5 14400585 14400585 single base substitution A G downstream_gene_variant MELA-AU 5 14400585 14400585 single base substitution A G intron_variant MELA-AU 5 14400811 14400811 single base substitution C T downstream_gene_variant MELA-AU 5 14400811 14400811 single base substitution C T intron_variant MELA-AU 5 14400811 14400812 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 14400811 14400812 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 14401059 14401059 single base substitution T A downstream_gene_variant MELA-AU 5 14401059 14401059 single base substitution T A intron_variant MELA-AU 5 14401106 14401106 single base substitution G A downstream_gene_variant MELA-AU 5 14401106 14401106 single base substitution G A exon_variant MELA-AU 5 14401106 14401106 single base substitution G A missense_variant G1283E 3848G>A MELA-AU 5 14401106 14401106 single base substitution G A missense_variant G1550E 4649G>A MELA-AU 5 14401241 14401241 single base substitution C T downstream_gene_variant MELA-AU 5 14401241 14401241 single base substitution C T intron_variant MELA-AU 5 14401841 14401841 single base substitution T C downstream_gene_variant MELA-AU 5 14401841 14401841 single base substitution T C intron_variant MELA-AU 5 14401841 14401841 single base substitution T C upstream_gene_variant MELA-AU 5 14402055 14402055 single base substitution G A downstream_gene_variant MELA-AU 5 14402055 14402055 single base substitution G A intron_variant MELA-AU 5 14402055 14402055 single base substitution G A upstream_gene_variant MELA-AU 5 14403045 14403045 single base substitution G A downstream_gene_variant MELA-AU 5 14403045 14403045 single base substitution G A intron_variant MELA-AU 5 14403045 14403045 single base substitution G A upstream_gene_variant MELA-AU 5 14404749 14404749 single base substitution C T intron_variant MELA-AU 5 14404749 14404749 single base substitution C T upstream_gene_variant MELA-AU 5 14404931 14404931 single base substitution C T intron_variant MELA-AU 5 14404931 14404931 single base substitution C T upstream_gene_variant MELA-AU 5 14404961 14404961 single base substitution C T intron_variant MELA-AU 5 14404961 14404961 single base substitution C T upstream_gene_variant MELA-AU 5 14405108 14405108 single base substitution G A intron_variant MELA-AU 5 14405108 14405108 single base substitution G A upstream_gene_variant MELA-AU 5 14405831 14405831 single base substitution T C intron_variant MELA-AU 5 14405831 14405831 single base substitution T C upstream_gene_variant MELA-AU 5 14407196 14407196 single base substitution G A intron_variant MELA-AU 5 14407313 14407313 single base substitution C T intron_variant MELA-AU 5 14407573 14407573 single base substitution G A intron_variant MELA-AU 5 14407661 14407661 single base substitution A G intron_variant MELA-AU 5 14407696 14407696 single base substitution C T intron_variant MELA-AU 5 14408916 14408916 single base substitution G A intron_variant MELA-AU 5 14409059 14409059 single base substitution T A intron_variant MELA-AU 5 14409620 14409620 single base substitution C T intron_variant MELA-AU 5 14409807 14409807 single base substitution G A intron_variant MELA-AU 5 14409938 14409938 single base substitution C T intron_variant MELA-AU 5 14410178 14410178 single base substitution C T intron_variant MELA-AU 5 14410507 14410507 single base substitution C T intron_variant MELA-AU 5 14411028 14411028 single base substitution C T intron_variant MELA-AU 5 14411063 14411063 single base substitution C T intron_variant MELA-AU 5 14411181 14411181 single base substitution G T intron_variant MELA-AU 5 14411238 14411238 single base substitution C A intron_variant MELA-AU 5 14411375 14411375 single base substitution C T intron_variant MELA-AU 5 14412023 14412023 single base substitution C T intron_variant MELA-AU 5 14413096 14413096 single base substitution A G intron_variant MELA-AU 5 14413417 14413417 single base substitution G C intron_variant MELA-AU 5 14413819 14413819 single base substitution C T intron_variant MELA-AU 5 14414616 14414618 multiple base substitution (>=2bp and <=200bp) GGG AAA intron_variant MELA-AU 5 14414616 14414618 multiple base substitution (>=2bp and <=200bp) GGG AAA upstream_gene_variant MELA-AU 5 14415197 14415197 single base substitution A C intron_variant MELA-AU 5 14415197 14415197 single base substitution A C upstream_gene_variant MELA-AU 5 14415295 14415295 single base substitution C T intron_variant MELA-AU 5 14415295 14415295 single base substitution C T upstream_gene_variant MELA-AU 5 14415353 14415353 single base substitution A G intron_variant MELA-AU 5 14415353 14415353 single base substitution A G upstream_gene_variant MELA-AU 5 14415463 14415463 single base substitution C T intron_variant MELA-AU 5 14415463 14415463 single base substitution C T upstream_gene_variant MELA-AU 5 14415946 14415946 single base substitution A G intron_variant MELA-AU 5 14415946 14415946 single base substitution A G upstream_gene_variant MELA-AU 5 14416106 14416106 single base substitution G T intron_variant MELA-AU 5 14416106 14416106 single base substitution G T upstream_gene_variant MELA-AU 5 14416617 14416617 single base substitution C T intron_variant MELA-AU 5 14416617 14416617 single base substitution C T upstream_gene_variant MELA-AU 5 14416848 14416848 single base substitution C T intron_variant MELA-AU 5 14416848 14416848 single base substitution C T upstream_gene_variant MELA-AU 5 14416853 14416853 single base substitution C T intron_variant MELA-AU 5 14416853 14416853 single base substitution C T upstream_gene_variant MELA-AU 5 14417229 14417229 single base substitution G A intron_variant MELA-AU 5 14417229 14417229 single base substitution G A upstream_gene_variant MELA-AU 5 14417368 14417368 single base substitution C T intron_variant MELA-AU 5 14417368 14417368 single base substitution C T upstream_gene_variant MELA-AU 5 14417494 14417494 single base substitution T A intron_variant MELA-AU 5 14417494 14417494 single base substitution T A upstream_gene_variant MELA-AU 5 14417632 14417632 single base substitution C T intron_variant MELA-AU 5 14417632 14417632 single base substitution C T upstream_gene_variant MELA-AU 5 14417889 14417889 single base substitution G A intron_variant MELA-AU 5 14417889 14417889 single base substitution G A upstream_gene_variant MELA-AU 5 14418177 14418177 single base substitution C A intron_variant MELA-AU 5 14418177 14418177 single base substitution C A upstream_gene_variant MELA-AU 5 14418848 14418848 single base substitution G A intron_variant MELA-AU 5 14418848 14418848 single base substitution G A upstream_gene_variant MELA-AU 5 14419239 14419239 single base substitution C T intron_variant MELA-AU 5 14419239 14419239 single base substitution C T upstream_gene_variant MELA-AU 5 14419662 14419662 single base substitution C T intron_variant MELA-AU 5 14419662 14419662 single base substitution C T upstream_gene_variant MELA-AU 5 14419958 14419959 multiple base substitution (>=2bp and <=200bp) CC AT exon_variant MELA-AU 5 14419958 14419959 multiple base substitution (>=2bp and <=200bp) CC AT stop_gained IR1410I* MELA-AU 5 14419958 14419959 multiple base substitution (>=2bp and <=200bp) CC AT stop_gained IR1677I* MELA-AU 5 14420653 14420653 single base substitution C T downstream_gene_variant MELA-AU 5 14420653 14420653 single base substitution C T exon_variant MELA-AU 5 14420653 14420653 single base substitution C T intron_variant MELA-AU 5 14420903 14420903 single base substitution C T downstream_gene_variant MELA-AU 5 14420903 14420903 single base substitution C T exon_variant MELA-AU 5 14420903 14420903 single base substitution C T intron_variant MELA-AU 5 14420981 14420981 single base substitution T C downstream_gene_variant MELA-AU 5 14420981 14420981 single base substitution T C intron_variant MELA-AU 5 14421226 14421226 single base substitution G A downstream_gene_variant MELA-AU 5 14421226 14421226 single base substitution G A intron_variant MELA-AU 5 14421397 14421397 single base substitution C T downstream_gene_variant MELA-AU 5 14421397 14421397 single base substitution C T intron_variant MELA-AU 5 14421596 14421596 single base substitution C T downstream_gene_variant MELA-AU 5 14421596 14421596 single base substitution C T intron_variant MELA-AU 5 14421722 14421722 single base substitution A G downstream_gene_variant MELA-AU 5 14421722 14421722 single base substitution A G intron_variant MELA-AU 5 14423150 14423150 single base substitution C T downstream_gene_variant MELA-AU 5 14423150 14423150 single base substitution C T intron_variant MELA-AU 5 14423195 14423195 single base substitution C T downstream_gene_variant MELA-AU 5 14423195 14423195 single base substitution C T intron_variant MELA-AU 5 14423674 14423675 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 14423674 14423675 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 14423885 14423885 single base substitution C T downstream_gene_variant MELA-AU 5 14423885 14423885 single base substitution C T intron_variant MELA-AU 5 14424424 14424424 single base substitution C T downstream_gene_variant MELA-AU 5 14424424 14424424 single base substitution C T intron_variant MELA-AU 5 14424508 14424508 single base substitution C T downstream_gene_variant MELA-AU 5 14424508 14424508 single base substitution C T intron_variant MELA-AU 5 14425093 14425093 single base substitution C T downstream_gene_variant MELA-AU 5 14425093 14425093 single base substitution C T intron_variant MELA-AU 5 14425844 14425844 single base substitution C T downstream_gene_variant MELA-AU 5 14425844 14425844 single base substitution C T intron_variant MELA-AU 5 14425876 14425876 single base substitution C T downstream_gene_variant MELA-AU 5 14425876 14425876 single base substitution C T intron_variant MELA-AU 5 14426201 14426201 single base substitution T A intron_variant MELA-AU 5 14426244 14426244 single base substitution T C intron_variant MELA-AU 5 14426415 14426415 single base substitution C T intron_variant MELA-AU 5 14426476 14426476 single base substitution C T intron_variant MELA-AU 5 14426560 14426560 single base substitution C T intron_variant MELA-AU 5 14426821 14426821 single base substitution C G intron_variant MELA-AU 5 14426848 14426848 single base substitution T C intron_variant MELA-AU 5 14426920 14426920 single base substitution G A intron_variant MELA-AU 5 14427075 14427075 single base substitution T A intron_variant MELA-AU 5 14427451 14427451 single base substitution C T intron_variant MELA-AU 5 14427769 14427769 single base substitution C T intron_variant MELA-AU 5 14428015 14428015 single base substitution C T intron_variant MELA-AU 5 14428484 14428484 single base substitution C T intron_variant MELA-AU 5 14429231 14429231 single base substitution C T intron_variant MELA-AU 5 14429304 14429304 single base substitution C T intron_variant MELA-AU 5 14429430 14429430 single base substitution C T intron_variant MELA-AU 5 14429967 14429967 single base substitution G A intron_variant MELA-AU 5 14430798 14430798 single base substitution A G intron_variant MELA-AU 5 14431509 14431509 single base substitution G A intron_variant MELA-AU 5 14431549 14431549 single base substitution C T intron_variant MELA-AU 5 14431792 14431792 single base substitution G A intron_variant MELA-AU 5 14431836 14431836 single base substitution C T intron_variant MELA-AU 5 14432261 14432261 single base substitution C T intron_variant MELA-AU 5 14432508 14432508 single base substitution C G intron_variant MELA-AU 5 14432587 14432587 single base substitution C T intron_variant MELA-AU 5 14433058 14433058 single base substitution G A intron_variant MELA-AU 5 14433475 14433475 single base substitution C T intron_variant MELA-AU 5 14433527 14433527 single base substitution C T intron_variant MELA-AU 5 14433814 14433815 multiple base substitution (>=2bp and <=200bp) TT AC intron_variant MELA-AU 5 14433935 14433935 single base substitution G A intron_variant MELA-AU 5 14434010 14434010 single base substitution T C intron_variant MELA-AU 5 14434264 14434264 single base substitution C T intron_variant MELA-AU 5 14434677 14434677 single base substitution C T intron_variant MELA-AU 5 14435183 14435183 single base substitution C T intron_variant MELA-AU 5 14435332 14435332 single base substitution G C intron_variant MELA-AU 5 14435346 14435346 single base substitution C T intron_variant MELA-AU 5 14435364 14435364 single base substitution C T intron_variant MELA-AU 5 14435471 14435471 single base substitution G C intron_variant MELA-AU 5 14436155 14436155 single base substitution A T intron_variant MELA-AU 5 14436155 14436155 single base substitution A T upstream_gene_variant MELA-AU 5 14436568 14436568 single base substitution C T intron_variant MELA-AU 5 14436568 14436568 single base substitution C T upstream_gene_variant MELA-AU 5 14436576 14436576 single base substitution C T intron_variant MELA-AU 5 14436576 14436576 single base substitution C T upstream_gene_variant MELA-AU 5 14436629 14436629 single base substitution T C intron_variant MELA-AU 5 14436629 14436629 single base substitution T C upstream_gene_variant MELA-AU 5 14436831 14436831 single base substitution G A intron_variant MELA-AU 5 14436831 14436831 single base substitution G A upstream_gene_variant MELA-AU 5 14437644 14437644 single base substitution G A intron_variant MELA-AU 5 14437644 14437644 single base substitution G A upstream_gene_variant MELA-AU 5 14438081 14438081 single base substitution T G intron_variant MELA-AU 5 14438081 14438081 single base substitution T G upstream_gene_variant MELA-AU 5 14438087 14438087 single base substitution C T intron_variant MELA-AU 5 14438087 14438087 single base substitution C T upstream_gene_variant MELA-AU 5 14438188 14438188 single base substitution C T intron_variant MELA-AU 5 14438188 14438188 single base substitution C T upstream_gene_variant MELA-AU 5 14438318 14438318 single base substitution C T intron_variant MELA-AU 5 14438318 14438318 single base substitution C T upstream_gene_variant MELA-AU 5 14438521 14438521 single base substitution C T intron_variant MELA-AU 5 14438521 14438521 single base substitution C T upstream_gene_variant MELA-AU 5 14438547 14438547 single base substitution C T intron_variant MELA-AU 5 14438547 14438547 single base substitution C T upstream_gene_variant MELA-AU 5 14438676 14438676 single base substitution C T intron_variant MELA-AU 5 14438676 14438676 single base substitution C T upstream_gene_variant MELA-AU 5 14438937 14438937 single base substitution C T intron_variant MELA-AU 5 14438937 14438937 single base substitution C T upstream_gene_variant MELA-AU 5 14439023 14439023 single base substitution C T intron_variant MELA-AU 5 14439023 14439023 single base substitution C T upstream_gene_variant MELA-AU 5 14439321 14439321 single base substitution C T intron_variant MELA-AU 5 14439321 14439321 single base substitution C T upstream_gene_variant MELA-AU 5 14440253 14440253 single base substitution G A intron_variant MELA-AU 5 14440253 14440253 single base substitution G A upstream_gene_variant MELA-AU 5 14440797 14440797 single base substitution C T intron_variant MELA-AU 5 14440797 14440797 single base substitution C T upstream_gene_variant MELA-AU 5 14441788 14441788 single base substitution A G intron_variant MELA-AU 5 14441912 14441912 single base substitution C T intron_variant MELA-AU 5 14442151 14442151 single base substitution G A intron_variant MELA-AU 5 14442480 14442480 single base substitution C A intron_variant MELA-AU 5 14444035 14444035 single base substitution C T intron_variant MELA-AU 5 14444815 14444815 single base substitution C T intron_variant MELA-AU 5 14444835 14444835 single base substitution G A intron_variant MELA-AU 5 14445231 14445232 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 14445318 14445319 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 14446184 14446184 single base substitution C T intron_variant MELA-AU 5 14446668 14446668 single base substitution C G intron_variant MELA-AU 5 14447088 14447088 single base substitution C T intron_variant MELA-AU 5 14447610 14447610 single base substitution A T intron_variant MELA-AU 5 14448171 14448171 single base substitution C T intron_variant MELA-AU 5 14448331 14448331 single base substitution G A intron_variant MELA-AU 5 14448988 14448988 single base substitution T C intron_variant MELA-AU 5 14448989 14448989 single base substitution C T intron_variant MELA-AU 5 14449462 14449462 single base substitution C T intron_variant MELA-AU 5 14450781 14450781 single base substitution A G intron_variant MELA-AU 5 14452055 14452055 single base substitution C T intron_variant MELA-AU 5 14452134 14452134 single base substitution C T intron_variant MELA-AU 5 14452355 14452355 single base substitution C T intron_variant MELA-AU 5 14452383 14452383 single base substitution C T intron_variant MELA-AU 5 14452435 14452435 single base substitution C T intron_variant MELA-AU 5 14452514 14452514 single base substitution G A intron_variant MELA-AU 5 14452844 14452844 single base substitution C T intron_variant MELA-AU 5 14455001 14455001 single base substitution C T intron_variant MELA-AU 5 14455125 14455125 single base substitution C T intron_variant MELA-AU 5 14455175 14455175 single base substitution C A intron_variant MELA-AU 5 14455322 14455322 single base substitution C T intron_variant MELA-AU 5 14456782 14456782 single base substitution C T intron_variant MELA-AU 5 14458007 14458007 single base substitution C T intron_variant MELA-AU 5 14458165 14458165 single base substitution T A intron_variant MELA-AU 5 14458489 14458489 single base substitution C T intron_variant MELA-AU 5 14458677 14458677 single base substitution T G intron_variant MELA-AU 5 14458718 14458718 single base substitution C T intron_variant MELA-AU 5 14458831 14458831 single base substitution C T intron_variant MELA-AU 5 14458870 14458870 single base substitution C T intron_variant MELA-AU 5 14458889 14458889 single base substitution C T intron_variant MELA-AU 5 14459176 14459176 single base substitution G T intron_variant MELA-AU 5 14459732 14459732 single base substitution C T intron_variant MELA-AU 5 14460055 14460055 single base substitution C T intron_variant MELA-AU 5 14460250 14460250 single base substitution C T intron_variant MELA-AU 5 14460633 14460633 single base substitution G A intron_variant MELA-AU 5 14461137 14461137 single base substitution C T exon_variant MELA-AU 5 14461137 14461137 single base substitution C T missense_variant S1471F 4412C>T MELA-AU 5 14461137 14461137 single base substitution C T missense_variant S1738F 5213C>T MELA-AU 5 14461170 14461170 single base substitution C T exon_variant MELA-AU 5 14461170 14461170 single base substitution C T missense_variant S1482F 4445C>T MELA-AU 5 14461170 14461170 single base substitution C T missense_variant S1749F 5246C>T MELA-AU 5 14461372 14461372 single base substitution G A exon_variant MELA-AU 5 14461372 14461372 single base substitution G A synonymous_variant K1549K 4647G>A MELA-AU 5 14461372 14461372 single base substitution G A synonymous_variant K1816K 5448G>A MELA-AU 5 14462004 14462004 single base substitution C T intron_variant MELA-AU 5 14462103 14462103 single base substitution C T intron_variant MELA-AU 5 14462660 14462660 single base substitution A G intron_variant MELA-AU 5 14463061 14463061 single base substitution C T intron_variant MELA-AU 5 14463631 14463631 single base substitution C T intron_variant MELA-AU 5 14463748 14463748 single base substitution C T intron_variant MELA-AU 5 14463867 14463867 single base substitution C T intron_variant MELA-AU 5 14464045 14464045 single base substitution C T intron_variant MELA-AU 5 14464425 14464425 single base substitution G A intron_variant MELA-AU 5 14464544 14464544 single base substitution C T intron_variant MELA-AU 5 14464838 14464838 single base substitution C T intron_variant MELA-AU 5 14465162 14465162 single base substitution C T intron_variant MELA-AU 5 14465322 14465322 single base substitution C A intron_variant MELA-AU 5 14465944 14465945 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 5 14465944 14465945 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 14466191 14466191 single base substitution C T exon_variant MELA-AU 5 14466191 14466191 single base substitution C T intron_variant MELA-AU 5 14466552 14466552 single base substitution C T exon_variant MELA-AU 5 14466552 14466552 single base substitution C T intron_variant MELA-AU 5 14467257 14467257 single base substitution C T downstream_gene_variant MELA-AU 5 14467257 14467257 single base substitution C T intron_variant MELA-AU 5 14467747 14467747 single base substitution C T downstream_gene_variant MELA-AU 5 14467747 14467747 single base substitution C T intron_variant MELA-AU 5 14467969 14467969 single base substitution C T downstream_gene_variant MELA-AU 5 14467969 14467969 single base substitution C T intron_variant MELA-AU 5 14468234 14468234 single base substitution T A downstream_gene_variant MELA-AU 5 14468234 14468234 single base substitution T A intron_variant MELA-AU 5 14468997 14468997 single base substitution C T downstream_gene_variant MELA-AU 5 14468997 14468997 single base substitution C T intron_variant MELA-AU 5 14469013 14469013 single base substitution C T downstream_gene_variant MELA-AU 5 14469013 14469013 single base substitution C T intron_variant MELA-AU 5 14469079 14469079 single base substitution T A downstream_gene_variant MELA-AU 5 14469079 14469079 single base substitution T A intron_variant MELA-AU 5 14469099 14469099 single base substitution C T downstream_gene_variant MELA-AU 5 14469099 14469099 single base substitution C T intron_variant MELA-AU 5 14469127 14469127 single base substitution C T downstream_gene_variant MELA-AU 5 14469127 14469127 single base substitution C T intron_variant MELA-AU 5 14469127 14469127 single base substitution C T upstream_gene_variant MELA-AU 5 14469744 14469745 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 14469744 14469745 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 14469744 14469745 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 14470039 14470039 single base substitution C T downstream_gene_variant MELA-AU 5 14470039 14470039 single base substitution C T intron_variant MELA-AU 5 14470039 14470039 single base substitution C T upstream_gene_variant MELA-AU 5 14470297 14470297 single base substitution C T downstream_gene_variant MELA-AU 5 14470297 14470297 single base substitution C T intron_variant MELA-AU 5 14470297 14470297 single base substitution C T upstream_gene_variant MELA-AU 5 14470938 14470938 single base substitution A T downstream_gene_variant MELA-AU 5 14470938 14470938 single base substitution A T intron_variant MELA-AU 5 14470938 14470938 single base substitution A T upstream_gene_variant MELA-AU 5 14471212 14471212 single base substitution C T downstream_gene_variant MELA-AU 5 14471212 14471212 single base substitution C T intron_variant MELA-AU 5 14471212 14471212 single base substitution C T upstream_gene_variant MELA-AU 5 14471507 14471507 single base substitution C T downstream_gene_variant MELA-AU 5 14471507 14471507 single base substitution C T exon_variant MELA-AU 5 14471507 14471507 single base substitution C T synonymous_variant S1681S 5043C>T MELA-AU 5 14471507 14471507 single base substitution C T synonymous_variant S1948S 5844C>T MELA-AU 5 14471507 14471507 single base substitution C T upstream_gene_variant MELA-AU 5 14471513 14471513 single base substitution C T downstream_gene_variant MELA-AU 5 14471513 14471513 single base substitution C T exon_variant MELA-AU 5 14471513 14471513 single base substitution C T synonymous_variant L1683L 5049C>T MELA-AU 5 14471513 14471513 single base substitution C T synonymous_variant L1950L 5850C>T MELA-AU 5 14471513 14471513 single base substitution C T upstream_gene_variant MELA-AU 5 14472655 14472655 single base substitution C T intron_variant MELA-AU 5 14472655 14472655 single base substitution C T upstream_gene_variant MELA-AU 5 14472796 14472796 single base substitution C T intron_variant MELA-AU 5 14472796 14472796 single base substitution C T upstream_gene_variant MELA-AU 5 14472909 14472909 single base substitution C T intron_variant MELA-AU 5 14472909 14472909 single base substitution C T upstream_gene_variant MELA-AU 5 14473120 14473120 single base substitution G A intron_variant MELA-AU 5 14473120 14473120 single base substitution G A upstream_gene_variant MELA-AU 5 14473848 14473848 single base substitution C T intron_variant MELA-AU 5 14473848 14473848 single base substitution C T upstream_gene_variant MELA-AU 5 14474172 14474172 single base substitution G A exon_variant MELA-AU 5 14474172 14474172 single base substitution G A missense_variant G1750S 5248G>A MELA-AU 5 14474172 14474172 single base substitution G A missense_variant G2017S 6049G>A MELA-AU 5 14474340 14474340 single base substitution G A intron_variant MELA-AU 5 14474962 14474962 single base substitution C T intron_variant MELA-AU 5 14474962 14474962 single base substitution C T upstream_gene_variant MELA-AU 5 14475120 14475120 single base substitution C T intron_variant MELA-AU 5 14475120 14475120 single base substitution C T upstream_gene_variant MELA-AU 5 14475153 14475153 single base substitution C T intron_variant MELA-AU 5 14475153 14475153 single base substitution C T upstream_gene_variant MELA-AU 5 14475180 14475180 single base substitution C T intron_variant MELA-AU 5 14475180 14475180 single base substitution C T upstream_gene_variant MELA-AU 5 14475274 14475274 single base substitution C T intron_variant MELA-AU 5 14475274 14475274 single base substitution C T upstream_gene_variant MELA-AU 5 14476526 14476526 single base substitution C T intron_variant MELA-AU 5 14476526 14476526 single base substitution C T upstream_gene_variant MELA-AU 5 14476640 14476640 single base substitution C T intron_variant MELA-AU 5 14476640 14476640 single base substitution C T upstream_gene_variant MELA-AU 5 14476840 14476840 single base substitution T C intron_variant MELA-AU 5 14476840 14476840 single base substitution T C upstream_gene_variant MELA-AU 5 14477950 14477950 single base substitution C T downstream_gene_variant MELA-AU 5 14477950 14477950 single base substitution C T intron_variant MELA-AU 5 14477950 14477950 single base substitution C T upstream_gene_variant MELA-AU 5 14478809 14478810 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 14478809 14478810 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 14478809 14478810 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 14479329 14479329 single base substitution C T downstream_gene_variant MELA-AU 5 14479329 14479329 single base substitution C T intron_variant MELA-AU 5 14479329 14479329 single base substitution C T upstream_gene_variant MELA-AU 5 14479459 14479459 single base substitution G A downstream_gene_variant MELA-AU 5 14479459 14479459 single base substitution G A splice_region_variant MELA-AU 5 14479459 14479459 single base substitution G A upstream_gene_variant MELA-AU 5 14479823 14479823 single base substitution C T downstream_gene_variant MELA-AU 5 14479823 14479823 single base substitution C T intron_variant MELA-AU 5 14479823 14479823 single base substitution C T upstream_gene_variant MELA-AU 5 14479987 14479987 single base substitution T A downstream_gene_variant MELA-AU 5 14479987 14479987 single base substitution T A intron_variant MELA-AU 5 14479987 14479987 single base substitution T A upstream_gene_variant MELA-AU 5 14480078 14480078 single base substitution C T downstream_gene_variant MELA-AU 5 14480078 14480078 single base substitution C T exon_variant MELA-AU 5 14480078 14480078 single base substitution C T synonymous_variant I1831I 5493C>T MELA-AU 5 14480078 14480078 single base substitution C T synonymous_variant I2098I 6294C>T MELA-AU 5 14480078 14480078 single base substitution C T upstream_gene_variant MELA-AU 5 14481359 14481359 single base substitution C T downstream_gene_variant MELA-AU 5 14481359 14481359 single base substitution C T exon_variant MELA-AU 5 14481359 14481359 single base substitution C T missense_variant S1851F 5552C>T MELA-AU 5 14481359 14481359 single base substitution C T missense_variant S2118F 6353C>T MELA-AU 5 14481359 14481359 single base substitution C T upstream_gene_variant MELA-AU 5 14481414 14481414 single base substitution G T downstream_gene_variant MELA-AU 5 14481414 14481414 single base substitution G T intron_variant MELA-AU 5 14481414 14481414 single base substitution G T upstream_gene_variant MELA-AU 5 14481527 14481527 single base substitution C T downstream_gene_variant MELA-AU 5 14481527 14481527 single base substitution C T intron_variant MELA-AU 5 14481527 14481527 single base substitution C T upstream_gene_variant MELA-AU 5 14481809 14481809 single base substitution G A downstream_gene_variant MELA-AU 5 14481809 14481809 single base substitution G A exon_variant MELA-AU 5 14481809 14481809 single base substitution G A intron_variant MELA-AU 5 14481809 14481809 single base substitution G A upstream_gene_variant MELA-AU 5 14482050 14482050 single base substitution C A downstream_gene_variant MELA-AU 5 14482050 14482050 single base substitution C A intron_variant MELA-AU 5 14482050 14482050 single base substitution C A upstream_gene_variant MELA-AU 5 14482227 14482227 single base substitution G A downstream_gene_variant MELA-AU 5 14482227 14482227 single base substitution G A intron_variant MELA-AU 5 14482227 14482227 single base substitution G A upstream_gene_variant MELA-AU 5 14482507 14482507 single base substitution T C downstream_gene_variant MELA-AU 5 14482507 14482507 single base substitution T C intron_variant MELA-AU 5 14482507 14482507 single base substitution T C upstream_gene_variant MELA-AU 5 14482699 14482699 single base substitution C T downstream_gene_variant MELA-AU 5 14482699 14482699 single base substitution C T exon_variant MELA-AU 5 14482699 14482699 single base substitution C T synonymous_variant I1891I 5673C>T MELA-AU 5 14482699 14482699 single base substitution C T synonymous_variant I2158I 6474C>T MELA-AU 5 14483349 14483349 single base substitution C T downstream_gene_variant MELA-AU 5 14483349 14483349 single base substitution C T intron_variant MELA-AU 5 14483572 14483572 single base substitution C T downstream_gene_variant MELA-AU 5 14483572 14483572 single base substitution C T intron_variant MELA-AU 5 14483572 14483572 single base substitution C T upstream_gene_variant MELA-AU 5 14483648 14483648 single base substitution C T downstream_gene_variant MELA-AU 5 14483648 14483648 single base substitution C T intron_variant MELA-AU 5 14483648 14483648 single base substitution C T upstream_gene_variant MELA-AU 5 14483698 14483698 single base substitution C T downstream_gene_variant MELA-AU 5 14483698 14483698 single base substitution C T intron_variant MELA-AU 5 14483698 14483698 single base substitution C T upstream_gene_variant MELA-AU 5 14483936 14483936 single base substitution G A downstream_gene_variant MELA-AU 5 14483936 14483936 single base substitution G A intron_variant MELA-AU 5 14483936 14483936 single base substitution G A upstream_gene_variant MELA-AU 5 14483967 14483967 single base substitution C T downstream_gene_variant MELA-AU 5 14483967 14483967 single base substitution C T intron_variant MELA-AU 5 14483967 14483967 single base substitution C T upstream_gene_variant MELA-AU 5 14484920 14484920 single base substitution C T downstream_gene_variant MELA-AU 5 14484920 14484920 single base substitution C T intron_variant MELA-AU 5 14484920 14484920 single base substitution C T upstream_gene_variant MELA-AU 5 14485306 14485306 single base substitution G C downstream_gene_variant MELA-AU 5 14485306 14485306 single base substitution G C exon_variant MELA-AU 5 14485306 14485306 single base substitution G C missense_variant W1995C 5985G>C MELA-AU 5 14485306 14485306 single base substitution G C missense_variant W2262C 6786G>C MELA-AU 5 14485306 14485306 single base substitution G C upstream_gene_variant MELA-AU 5 14485654 14485654 single base substitution C T downstream_gene_variant MELA-AU 5 14485654 14485654 single base substitution C T intron_variant MELA-AU 5 14485654 14485654 single base substitution C T upstream_gene_variant MELA-AU 5 14485996 14485996 single base substitution C T downstream_gene_variant MELA-AU 5 14485996 14485996 single base substitution C T intron_variant MELA-AU 5 14485996 14485996 single base substitution C T upstream_gene_variant MELA-AU 5 14486732 14486732 single base substitution C T downstream_gene_variant MELA-AU 5 14486732 14486732 single base substitution C T intron_variant MELA-AU 5 14486732 14486732 single base substitution C T upstream_gene_variant MELA-AU 5 14487235 14487235 single base substitution C T intron_variant MELA-AU 5 14487235 14487235 single base substitution C T upstream_gene_variant MELA-AU 5 14487595 14487595 single base substitution C T exon_variant MELA-AU 5 14487595 14487595 single base substitution C T synonymous_variant Y2019Y 6057C>T MELA-AU 5 14487595 14487595 single base substitution C T synonymous_variant Y2286Y 6858C>T MELA-AU 5 14487595 14487595 single base substitution C T upstream_gene_variant MELA-AU 5 14487942 14487942 single base substitution C T downstream_gene_variant MELA-AU 5 14487942 14487942 single base substitution C T exon_variant MELA-AU 5 14487942 14487942 single base substitution C T intron_variant MELA-AU 5 14487942 14487942 single base substitution C T missense_variant S2135F 6404C>T MELA-AU 5 14487942 14487942 single base substitution C T missense_variant S2402F 7205C>T MELA-AU 5 14487942 14487942 single base substitution C T upstream_gene_variant MELA-AU 5 14488101 14488101 single base substitution C T downstream_gene_variant MELA-AU 5 14488101 14488101 single base substitution C T exon_variant MELA-AU 5 14488101 14488101 single base substitution C T intron_variant MELA-AU 5 14488101 14488101 single base substitution C T missense_variant S2188L 6563C>T MELA-AU 5 14488101 14488101 single base substitution C T missense_variant S2455L 7364C>T MELA-AU 5 14488101 14488101 single base substitution C T upstream_gene_variant MELA-AU 5 14488496 14488496 single base substitution C T downstream_gene_variant MELA-AU 5 14488496 14488496 single base substitution C T exon_variant MELA-AU 5 14488496 14488496 single base substitution C T intron_variant MELA-AU 5 14488496 14488496 single base substitution C T upstream_gene_variant MELA-AU 5 14488706 14488706 single base substitution C T 5_prime_UTR_variant MELA-AU 5 14488706 14488706 single base substitution C T downstream_gene_variant MELA-AU 5 14488706 14488706 single base substitution C T exon_variant MELA-AU 5 14488706 14488706 single base substitution C T intron_variant MELA-AU 5 14488706 14488706 single base substitution C T upstream_gene_variant MELA-AU 5 14488772 14488772 single base substitution C T 5_prime_UTR_variant MELA-AU 5 14488772 14488772 single base substitution C T downstream_gene_variant MELA-AU 5 14488772 14488772 single base substitution C T exon_variant MELA-AU 5 14488772 14488772 single base substitution C T intron_variant MELA-AU 5 14488772 14488772 single base substitution C T upstream_gene_variant MELA-AU 5 14489311 14489311 single base substitution C T downstream_gene_variant MELA-AU 5 14489311 14489311 single base substitution C T intron_variant MELA-AU 5 14489311 14489311 single base substitution C T upstream_gene_variant MELA-AU 5 14489355 14489355 single base substitution C T downstream_gene_variant MELA-AU 5 14489355 14489355 single base substitution C T intron_variant MELA-AU 5 14489355 14489355 single base substitution C T upstream_gene_variant MELA-AU 5 14489492 14489492 single base substitution C T downstream_gene_variant MELA-AU 5 14489492 14489492 single base substitution C T intron_variant MELA-AU 5 14489492 14489492 single base substitution C T upstream_gene_variant MELA-AU 5 14489587 14489587 single base substitution G A downstream_gene_variant MELA-AU 5 14489587 14489587 single base substitution G A intron_variant MELA-AU 5 14489587 14489587 single base substitution G A upstream_gene_variant MELA-AU 5 14490183 14490183 single base substitution C T downstream_gene_variant MELA-AU 5 14490183 14490183 single base substitution C T intron_variant MELA-AU 5 14490183 14490183 single base substitution C T upstream_gene_variant MELA-AU 5 14490417 14490417 single base substitution C T downstream_gene_variant MELA-AU 5 14490417 14490417 single base substitution C T intron_variant MELA-AU 5 14490417 14490417 single base substitution C T upstream_gene_variant MELA-AU 5 14491212 14491213 multiple base substitution (>=2bp and <=200bp) TC GG downstream_gene_variant MELA-AU 5 14491212 14491213 multiple base substitution (>=2bp and <=200bp) TC GG intron_variant MELA-AU 5 14491212 14491213 multiple base substitution (>=2bp and <=200bp) TC GG upstream_gene_variant MELA-AU 5 14491302 14491302 single base substitution C T downstream_gene_variant MELA-AU 5 14491302 14491302 single base substitution C T intron_variant MELA-AU 5 14491302 14491302 single base substitution C T upstream_gene_variant MELA-AU 5 14491596 14491596 single base substitution G A downstream_gene_variant MELA-AU 5 14491596 14491596 single base substitution G A intron_variant MELA-AU 5 14491596 14491596 single base substitution G A upstream_gene_variant MELA-AU 5 14491684 14491684 single base substitution G A downstream_gene_variant MELA-AU 5 14491684 14491684 single base substitution G A intron_variant MELA-AU 5 14491684 14491684 single base substitution G A upstream_gene_variant MELA-AU 5 14492897 14492897 single base substitution C T 3_prime_UTR_variant MELA-AU 5 14492897 14492897 single base substitution C T downstream_gene_variant MELA-AU 5 14492897 14492897 single base substitution C T exon_variant MELA-AU 5 14492897 14492897 single base substitution C T synonymous_variant I117I 351C>T MELA-AU 5 14492897 14492897 single base substitution C T synonymous_variant I2351I 7053C>T MELA-AU 5 14492897 14492897 single base substitution C T synonymous_variant I2442I 7326C>T MELA-AU 5 14492897 14492897 single base substitution C T synonymous_variant I2618I 7854C>T MELA-AU 5 14493237 14493237 single base substitution A G downstream_gene_variant MELA-AU 5 14493237 14493237 single base substitution A G intron_variant MELA-AU 5 14493348 14493349 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 5 14493348 14493349 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 5 14493348 14493349 multiple base substitution (>=2bp and <=200bp) GT AA upstream_gene_variant MELA-AU 5 14494883 14494883 single base substitution C T intron_variant MELA-AU 5 14494883 14494883 single base substitution C T upstream_gene_variant MELA-AU 5 14495340 14495340 single base substitution C T intron_variant MELA-AU 5 14495340 14495340 single base substitution C T upstream_gene_variant MELA-AU 5 14495429 14495429 single base substitution G A intron_variant MELA-AU 5 14495429 14495429 single base substitution G A upstream_gene_variant MELA-AU 5 14496376 14496376 single base substitution C T intron_variant MELA-AU 5 14496376 14496376 single base substitution C T upstream_gene_variant MELA-AU 5 14496862 14496862 single base substitution C T intron_variant MELA-AU 5 14496862 14496862 single base substitution C T upstream_gene_variant MELA-AU 5 14496866 14496866 single base substitution G A intron_variant MELA-AU 5 14496866 14496866 single base substitution G A upstream_gene_variant MELA-AU 5 14496983 14496983 single base substitution C T intron_variant MELA-AU 5 14496983 14496983 single base substitution C T splice_region_variant MELA-AU 5 14496983 14496983 single base substitution C T upstream_gene_variant MELA-AU 5 14497469 14497469 single base substitution C T downstream_gene_variant MELA-AU 5 14497469 14497469 single base substitution C T intron_variant MELA-AU 5 14497469 14497469 single base substitution C T upstream_gene_variant MELA-AU 5 14497907 14497907 single base substitution C T downstream_gene_variant MELA-AU 5 14497907 14497907 single base substitution C T intron_variant MELA-AU 5 14497907 14497907 single base substitution C T upstream_gene_variant MELA-AU 5 14498726 14498726 single base substitution C T 3_prime_UTR_variant MELA-AU 5 14498726 14498726 single base substitution C T downstream_gene_variant MELA-AU 5 14498726 14498726 single base substitution C T exon_variant MELA-AU 5 14498726 14498726 single base substitution C T missense_variant S2503L 7508C>T MELA-AU 5 14498726 14498726 single base substitution C T missense_variant S2594L 7781C>T MELA-AU 5 14498726 14498726 single base substitution C T missense_variant S269L 806C>T MELA-AU 5 14498726 14498726 single base substitution C T missense_variant S2770L 8309C>T MELA-AU 5 14499207 14499207 single base substitution C T downstream_gene_variant MELA-AU 5 14499207 14499207 single base substitution C T exon_variant MELA-AU 5 14499207 14499207 single base substitution C T intron_variant MELA-AU 5 14499434 14499434 single base substitution C T downstream_gene_variant MELA-AU 5 14499434 14499434 single base substitution C T intron_variant MELA-AU 5 14499782 14499782 single base substitution G C downstream_gene_variant MELA-AU 5 14499782 14499782 single base substitution G C intron_variant MELA-AU 5 14499807 14499807 single base substitution G A downstream_gene_variant MELA-AU 5 14499807 14499807 single base substitution G A intron_variant MELA-AU 5 14499816 14499816 single base substitution C A downstream_gene_variant MELA-AU 5 14499816 14499816 single base substitution C A intron_variant MELA-AU 5 14499956 14499956 single base substitution C T downstream_gene_variant MELA-AU 5 14499956 14499956 single base substitution C T intron_variant MELA-AU 5 14500190 14500190 single base substitution C T downstream_gene_variant MELA-AU 5 14500190 14500190 single base substitution C T intron_variant MELA-AU 5 14500489 14500489 single base substitution C T downstream_gene_variant MELA-AU 5 14500489 14500489 single base substitution C T intron_variant MELA-AU 5 14501098 14501098 single base substitution C T downstream_gene_variant MELA-AU 5 14501098 14501098 single base substitution C T intron_variant MELA-AU 5 14501817 14501817 single base substitution C T downstream_gene_variant MELA-AU 5 14501817 14501817 single base substitution C T intron_variant MELA-AU 5 14501853 14501853 single base substitution G T downstream_gene_variant MELA-AU 5 14501853 14501853 single base substitution G T intron_variant MELA-AU 5 14502247 14502247 single base substitution G A downstream_gene_variant MELA-AU 5 14502247 14502247 single base substitution G A intron_variant MELA-AU 5 14503189 14503189 single base substitution C T downstream_gene_variant MELA-AU 5 14503189 14503189 single base substitution C T intron_variant MELA-AU 5 14503574 14503574 single base substitution C T downstream_gene_variant MELA-AU 5 14503574 14503574 single base substitution C T intron_variant MELA-AU 5 14503704 14503704 single base substitution C T downstream_gene_variant MELA-AU 5 14503704 14503704 single base substitution C T intron_variant MELA-AU 5 14503835 14503836 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 14503835 14503836 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 14503863 14503863 single base substitution C T downstream_gene_variant MELA-AU 5 14503863 14503863 single base substitution C T intron_variant MELA-AU 5 14503985 14503985 single base substitution C T downstream_gene_variant MELA-AU 5 14503985 14503985 single base substitution C T intron_variant MELA-AU 5 14504006 14504006 single base substitution C T downstream_gene_variant MELA-AU 5 14504006 14504006 single base substitution C T intron_variant MELA-AU 5 14504707 14504707 single base substitution G A exon_variant MELA-AU 5 14504707 14504707 single base substitution G A intron_variant MELA-AU 5 14504707 14504707 single base substitution G A splice_region_variant MELA-AU 5 14504769 14504769 single base substitution C T exon_variant MELA-AU 5 14504769 14504769 single base substitution C T intron_variant MELA-AU 5 14505102 14505102 single base substitution G A downstream_gene_variant MELA-AU 5 14505102 14505102 single base substitution G A intron_variant MELA-AU 5 14505496 14505496 single base substitution C T downstream_gene_variant MELA-AU 5 14505496 14505496 single base substitution C T intron_variant MELA-AU 5 14505505 14505505 single base substitution G A downstream_gene_variant MELA-AU 5 14505505 14505505 single base substitution G A intron_variant MELA-AU 5 14505756 14505756 single base substitution C T downstream_gene_variant MELA-AU 5 14505756 14505756 single base substitution C T intron_variant MELA-AU 5 14506957 14506957 single base substitution A G downstream_gene_variant MELA-AU 5 14506957 14506957 single base substitution A G intron_variant MELA-AU 5 14507080 14507080 single base substitution C T downstream_gene_variant MELA-AU 5 14507080 14507080 single base substitution C T intron_variant MELA-AU 5 14507196 14507196 single base substitution C T downstream_gene_variant MELA-AU 5 14507196 14507196 single base substitution C T intron_variant MELA-AU 5 14507327 14507327 single base substitution C T 3_prime_UTR_variant MELA-AU 5 14507327 14507327 single base substitution C T downstream_gene_variant MELA-AU 5 14507327 14507327 single base substitution C T intron_variant MELA-AU 5 14507327 14507327 single base substitution C T synonymous_variant V2727V 8181C>T MELA-AU 5 14507327 14507327 single base substitution C T synonymous_variant V2903V 8709C>T MELA-AU 5 14507327 14507327 single base substitution C T synonymous_variant V402V 1206C>T MELA-AU 5 14507328 14507328 single base substitution C T 3_prime_UTR_variant MELA-AU 5 14507328 14507328 single base substitution C T downstream_gene_variant MELA-AU 5 14507328 14507328 single base substitution C T intron_variant MELA-AU 5 14507328 14507328 single base substitution C T missense_variant R2728W 8182C>T MELA-AU 5 14507328 14507328 single base substitution C T missense_variant R2904W 8710C>T MELA-AU 5 14507328 14507328 single base substitution C T missense_variant R403W 1207C>T MELA-AU 5 14507598 14507598 single base substitution T C downstream_gene_variant MELA-AU 5 14507598 14507598 single base substitution T C intron_variant MELA-AU 5 14508117 14508117 single base substitution C T 3_prime_UTR_variant MELA-AU 5 14508117 14508117 single base substitution C T downstream_gene_variant MELA-AU 5 14508117 14508117 single base substitution C T exon_variant MELA-AU 5 14508117 14508117 single base substitution C T intron_variant MELA-AU 5 14508117 14508117 single base substitution C T synonymous_variant A2784A 8352C>T MELA-AU 5 14508117 14508117 single base substitution C T synonymous_variant A2960A 8880C>T MELA-AU 5 14508117 14508117 single base substitution C T synonymous_variant A459A 1377C>T MELA-AU 5 14508315 14508315 single base substitution C T 3_prime_UTR_variant MELA-AU 5 14508315 14508315 single base substitution C T downstream_gene_variant MELA-AU 5 14508315 14508315 single base substitution C T exon_variant MELA-AU 5 14508315 14508315 single base substitution C T intron_variant MELA-AU 5 14508315 14508315 single base substitution C T synonymous_variant F2850F 8550C>T MELA-AU 5 14508315 14508315 single base substitution C T synonymous_variant F3026F 9078C>T MELA-AU 5 14508315 14508315 single base substitution C T synonymous_variant F525F 1575C>T MELA-AU 5 14508640 14508640 single base substitution C T 3_prime_UTR_variant MELA-AU 5 14508640 14508640 single base substitution C T downstream_gene_variant MELA-AU 5 14508640 14508640 single base substitution C T intron_variant MELA-AU 5 14509694 14509694 single base substitution C T 3_prime_UTR_variant MELA-AU 5 14509694 14509694 single base substitution C T downstream_gene_variant MELA-AU 5 14509694 14509694 single base substitution C T intron_variant MELA-AU 5 14509912 14509912 single base substitution C T 3_prime_UTR_variant MELA-AU 5 14509912 14509912 single base substitution C T downstream_gene_variant MELA-AU 5 14509912 14509912 single base substitution C T intron_variant MELA-AU 5 14510719 14510719 single base substitution C T downstream_gene_variant MELA-AU 5 14510719 14510719 single base substitution C T intron_variant MELA-AU 5 14510866 14510866 single base substitution C T downstream_gene_variant MELA-AU 5 14510866 14510866 single base substitution C T intron_variant MELA-AU 5 14510868 14510868 single base substitution C T downstream_gene_variant MELA-AU 5 14510868 14510868 single base substitution C T intron_variant MELA-AU 5 14510870 14510870 single base substitution C T downstream_gene_variant MELA-AU 5 14510870 14510870 single base substitution C T intron_variant MELA-AU 5 14510889 14510889 single base substitution C T downstream_gene_variant MELA-AU 5 14510889 14510889 single base substitution C T intron_variant MELA-AU 5 14511145 14511145 single base substitution C T downstream_gene_variant MELA-AU 5 14511145 14511145 single base substitution C T intron_variant MELA-AU 5 14512588 14512588 deletion of <=200bp T - downstream_gene_variant MELA-AU 5 14512588 14512588 deletion of <=200bp T - intron_variant MELA-AU 5 14513382 14513382 single base substitution T C downstream_gene_variant MELA-AU 5 14513382 14513382 single base substitution T C intron_variant MELA-AU 5 14513633 14513633 single base substitution C T downstream_gene_variant MELA-AU 5 14513633 14513633 single base substitution C T intron_variant MELA-AU 5 14514142 14514142 single base substitution C T downstream_gene_variant MELA-AU 5 14514142 14514142 single base substitution C T intron_variant MELA-AU 5 14514560 14514560 single base substitution C T downstream_gene_variant MELA-AU 5 14514560 14514560 single base substitution C T intron_variant MELA-AU 5 14514901 14514901 single base substitution C T downstream_gene_variant MELA-AU 5 14514901 14514901 single base substitution C T intron_variant MELA-AU 5 14514912 14514912 single base substitution A G downstream_gene_variant MELA-AU 5 14514912 14514912 single base substitution A G intron_variant MELA-AU 5 14515453 14515453 single base substitution G A intron_variant MELA-AU 5 14515595 14515596 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 14515621 14515621 single base substitution G A intron_variant MELA-AU 5 14515861 14515861 single base substitution G A intron_variant MELA-AU 5 14515888 14515888 single base substitution A G intron_variant MELA-AU 5 14515892 14515892 single base substitution C T intron_variant MELA-AU 5 14516020 14516020 single base substitution C T intron_variant MELA-AU 5 14516131 14516131 single base substitution T G intron_variant MELA-AU 5 14516133 14516133 single base substitution C T intron_variant MELA-AU 5 14516240 14516240 single base substitution G A intron_variant MELA-AU 5 14516366 14516366 single base substitution C T intron_variant MELA-AU 5 14516815 14516815 single base substitution G A intron_variant MELA-AU 5 14517481 14517481 single base substitution C T intron_variant MELA-AU 5 14517484 14517484 single base substitution C T intron_variant MELA-AU 5 14518398 14518398 single base substitution C T intron_variant MELA-AU 5 14518743 14518743 single base substitution C T intron_variant MELA-AU 5 14518793 14518793 single base substitution C T intron_variant MELA-AU 5 14518818 14518818 single base substitution T A intron_variant MELA-AU 5 14518916 14518916 single base substitution C T intron_variant MELA-AU 5 14518977 14518977 single base substitution C T intron_variant MELA-AU 5 14519002 14519002 single base substitution A T intron_variant MELA-AU 5 14519486 14519486 single base substitution C T intron_variant MELA-AU 5 14519801 14519801 single base substitution C T intron_variant MELA-AU 5 14519958 14519958 single base substitution T C intron_variant MELA-AU 5 14520162 14520162 single base substitution C T intron_variant MELA-AU 5 14520198 14520198 single base substitution C T intron_variant MELA-AU 5 14520278 14520278 single base substitution C T intron_variant MELA-AU 5 14520331 14520331 single base substitution C T intron_variant MELA-AU 5 14520549 14520549 single base substitution C T intron_variant MELA-AU 5 14520585 14520585 single base substitution G A intron_variant MELA-AU 5 14521079 14521079 single base substitution C T intron_variant MELA-AU 5 14521422 14521422 single base substitution C T intron_variant MELA-AU 5 14521423 14521423 single base substitution C T intron_variant MELA-AU 5 14521452 14521452 single base substitution C T intron_variant MELA-AU 5 14521523 14521523 single base substitution C T intron_variant MELA-AU 5 14521860 14521861 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 5 14522023 14522023 single base substitution C T intron_variant MELA-AU 5 14522236 14522236 single base substitution A G intron_variant MELA-AU 5 14522793 14522793 single base substitution C T intron_variant MELA-AU 5 14523002 14523002 single base substitution C T intron_variant MELA-AU 5 14523176 14523176 single base substitution C T intron_variant MELA-AU 5 14523532 14523532 single base substitution C T intron_variant MELA-AU 5 14523733 14523733 single base substitution C T intron_variant MELA-AU 5 14523854 14523854 single base substitution C T intron_variant MELA-AU 5 14524128 14524128 single base substitution C T intron_variant MELA-AU 5 14524159 14524159 single base substitution C T intron_variant MELA-AU 5 14524334 14524334 single base substitution C T intron_variant MELA-AU 5 14524833 14524833 single base substitution G A intron_variant MELA-AU 5 14525162 14525162 single base substitution G A intron_variant MELA-AU 5 14525260 14525260 single base substitution C T intron_variant MELA-AU 5 14525344 14525344 single base substitution T G intron_variant MELA-AU 5 14525602 14525602 single base substitution A G intron_variant MELA-AU 5 14525695 14525695 single base substitution G A intron_variant MELA-AU 5 14525843 14525843 single base substitution C T intron_variant MELA-AU 5 14525933 14525933 single base substitution G A intron_variant MELA-AU 5 14526698 14526698 single base substitution C T intron_variant MELA-AU 5 14526800 14526800 single base substitution C T intron_variant MELA-AU 5 14527091 14527091 single base substitution C T intron_variant MELA-AU 5 14527167 14527167 single base substitution C T intron_variant MELA-AU 5 14527244 14527244 single base substitution T G intron_variant MELA-AU 5 14527309 14527309 single base substitution C T intron_variant MELA-AU 5 14527350 14527350 single base substitution C T intron_variant MELA-AU 5 14527459 14527459 single base substitution C T intron_variant MELA-AU 5 14528492 14528492 single base substitution T C intron_variant MELA-AU 5 14528541 14528541 single base substitution T A intron_variant MELA-AU 5 14528680 14528680 single base substitution C T intron_variant MELA-AU 5 14528883 14528883 single base substitution G A intron_variant MELA-AU 5 14528912 14528912 single base substitution A G intron_variant MELA-AU 5 14529058 14529058 single base substitution G A intron_variant MELA-AU 5 14529153 14529153 single base substitution G A intron_variant MELA-AU 5 14529174 14529174 single base substitution C T intron_variant MELA-AU 5 14529428 14529428 single base substitution A T intron_variant MELA-AU 5 14529665 14529665 single base substitution C T intron_variant MELA-AU 5 14529721 14529721 single base substitution C T intron_variant MELA-AU 5 14529767 14529767 single base substitution C T intron_variant MELA-AU 5 14530086 14530086 single base substitution G A intron_variant MELA-AU 5 14530163 14530163 single base substitution C T intron_variant MELA-AU 5 14530176 14530176 single base substitution C A intron_variant MELA-AU 5 14530183 14530183 single base substitution C T intron_variant MELA-AU 5 14530619 14530619 single base substitution G A intron_variant MELA-AU 5 14530911 14530911 single base substitution C T intron_variant MELA-AU 5 14531498 14531498 single base substitution G A intron_variant MELA-AU 5 14531696 14531696 single base substitution T C intron_variant MELA-AU 5 14531731 14531731 single base substitution G A intron_variant MELA-AU 5 14531745 14531745 single base substitution G A intron_variant MELA-AU 5 14532174 14532174 single base substitution G A 3_prime_UTR_variant MELA-AU 5 14532311 14532311 single base substitution C T downstream_gene_variant MELA-AU 5 14532652 14532652 single base substitution C T downstream_gene_variant MELA-AU 5 14532900 14532900 single base substitution C T downstream_gene_variant MELA-AU 5 14532957 14532957 single base substitution G A downstream_gene_variant MELA-AU 5 14533245 14533245 single base substitution C A downstream_gene_variant MELA-AU 5 14533493 14533493 single base substitution T A downstream_gene_variant MELA-AU 5 14533620 14533620 single base substitution G A downstream_gene_variant MELA-AU 5 14533975 14533975 single base substitution C T downstream_gene_variant MELA-AU 5 14534069 14534069 single base substitution C T downstream_gene_variant MELA-AU 5 14534415 14534415 single base substitution C T downstream_gene_variant MELA-AU 5 14534579 14534579 single base substitution G A downstream_gene_variant MELA-AU 5 14534722 14534722 single base substitution C T downstream_gene_variant MELA-AU 5 14534802 14534802 single base substitution T C downstream_gene_variant MELA-AU 5 14534812 14534812 single base substitution C T downstream_gene_variant MELA-AU 5 14535626 14535626 single base substitution T C downstream_gene_variant MELA-AU 5 14535721 14535721 single base substitution C T downstream_gene_variant MELA-AU 5 14536088 14536088 single base substitution C T downstream_gene_variant MELA-AU 5 14536126 14536126 single base substitution C T downstream_gene_variant MELA-AU 5 14536204 14536204 single base substitution C T downstream_gene_variant MELA-AU 5 14536355 14536355 single base substitution G A downstream_gene_variant MELA-AU 5 14536413 14536413 single base substitution G A downstream_gene_variant MELA-AU 5 14536509 14536509 single base substitution C T downstream_gene_variant MELA-AU 5 14536511 14536511 single base substitution C T downstream_gene_variant MELA-AU 5 14536515 14536515 single base substitution G A downstream_gene_variant MELA-AU 5 14536605 14536605 single base substitution C T downstream_gene_variant MELA-AU 5 14536609 14536609 single base substitution C T downstream_gene_variant MELA-AU 5 14536635 14536635 single base substitution C T downstream_gene_variant MELA-AU 5 14536674 14536674 single base substitution G A downstream_gene_variant MELA-AU 5 14536719 14536719 single base substitution C T downstream_gene_variant MELA-AU 5 14536767 14536767 single base substitution C T downstream_gene_variant MELA-AU 5 14536897 14536897 single base substitution G A downstream_gene_variant MELA-AU 5 14536898 14536898 single base substitution G A downstream_gene_variant MELA-AU 5 14536922 14536922 single base substitution G A downstream_gene_variant MELA-AU 5 14537157 14537157 single base substitution C T downstream_gene_variant ORCA-IN 5 14166228 14166228 single base substitution G C intron_variant ORCA-IN 5 14230463 14230463 single base substitution G T intron_variant ORCA-IN 5 14238551 14238551 single base substitution G A intron_variant ORCA-IN 5 14253074 14253074 single base substitution C T intron_variant ORCA-IN 5 14258424 14258424 single base substitution G A intron_variant ORCA-IN 5 14268378 14268378 single base substitution G C intron_variant ORCA-IN 5 14305615 14305615 single base substitution G A intron_variant ORCA-IN 5 14308713 14308713 single base substitution G A intron_variant ORCA-IN 5 14309743 14309743 single base substitution T C intron_variant ORCA-IN 5 14330412 14330412 single base substitution C T intron_variant ORCA-IN 5 14332581 14332582 multiple base substitution (>=2bp and <=200bp) TC AG intron_variant ORCA-IN 5 14364889 14364889 single base substitution C T exon_variant ORCA-IN 5 14364889 14364889 single base substitution C T synonymous_variant C639C 1917C>T ORCA-IN 5 14364889 14364889 single base substitution C T synonymous_variant C857C 2571C>T ORCA-IN 5 14364889 14364889 single base substitution C T synonymous_variant C906C 2718C>T ORCA-IN 5 14374347 14374347 single base substitution C A exon_variant ORCA-IN 5 14374347 14374347 single base substitution C A missense_variant L1027I 3079C>A ORCA-IN 5 14374347 14374347 single base substitution C A missense_variant L1076I 3226C>A ORCA-IN 5 14374347 14374347 single base substitution C A missense_variant L809I 2425C>A ORCA-IN 5 14380372 14380390 deletion of <=200bp GCGCCCCGCCTCCTCCTTC - intron_variant ORCA-IN 5 14403358 14403358 single base substitution A G downstream_gene_variant ORCA-IN 5 14403358 14403358 single base substitution A G intron_variant ORCA-IN 5 14403358 14403358 single base substitution A G upstream_gene_variant ORCA-IN 5 14438813 14438813 single base substitution T G intron_variant ORCA-IN 5 14438813 14438813 single base substitution T G upstream_gene_variant ORCA-IN 5 14442763 14442763 single base substitution C T intron_variant ORCA-IN 5 14478895 14478895 deletion of <=200bp C - downstream_gene_variant ORCA-IN 5 14478895 14478895 deletion of <=200bp C - intron_variant ORCA-IN 5 14478895 14478895 deletion of <=200bp C - upstream_gene_variant ORCA-IN 5 14481777 14481777 single base substitution C G downstream_gene_variant ORCA-IN 5 14481777 14481777 single base substitution C G exon_variant ORCA-IN 5 14481777 14481777 single base substitution C G intron_variant ORCA-IN 5 14481777 14481777 single base substitution C G upstream_gene_variant ORCA-IN 5 14482704 14482704 single base substitution C A downstream_gene_variant ORCA-IN 5 14482704 14482704 single base substitution C A exon_variant ORCA-IN 5 14482704 14482704 single base substitution C A missense_variant A1893D 5678C>A ORCA-IN 5 14482704 14482704 single base substitution C A missense_variant A2160D 6479C>A ORCA-IN 5 14508344 14508344 single base substitution C A 3_prime_UTR_variant ORCA-IN 5 14508344 14508344 single base substitution C A downstream_gene_variant ORCA-IN 5 14508344 14508344 single base substitution C A exon_variant ORCA-IN 5 14508344 14508344 single base substitution C A intron_variant ORCA-IN 5 14508344 14508344 single base substitution C A missense_variant A2860D 8579C>A ORCA-IN 5 14508344 14508344 single base substitution C A missense_variant A3036D 9107C>A ORCA-IN 5 14508344 14508344 single base substitution C A missense_variant A535D 1604C>A ORCA-IN 5 14521593 14521593 single base substitution T G intron_variant ORCA-IN 5 14533098 14533098 single base substitution C T downstream_gene_variant OV-AU 5 14141432 14141432 single base substitution C A upstream_gene_variant OV-AU 5 14145847 14145847 single base substitution A G intron_variant OV-AU 5 14149144 14149144 single base substitution C T intron_variant OV-AU 5 14151820 14151820 single base substitution C G intron_variant OV-AU 5 14152704 14152704 single base substitution C G intron_variant OV-AU 5 14153253 14153253 single base substitution A G intron_variant OV-AU 5 14153258 14153258 single base substitution T G intron_variant OV-AU 5 14154365 14154365 single base substitution G A intron_variant OV-AU 5 14155671 14155671 single base substitution C T intron_variant OV-AU 5 14158764 14158764 single base substitution G A intron_variant OV-AU 5 14160720 14160720 single base substitution T A intron_variant OV-AU 5 14161999 14161999 single base substitution C G intron_variant OV-AU 5 14168898 14168898 single base substitution C G intron_variant OV-AU 5 14170067 14170067 single base substitution C G intron_variant OV-AU 5 14174376 14174376 single base substitution C A intron_variant OV-AU 5 14177860 14177860 single base substitution G T intron_variant OV-AU 5 14181677 14181677 single base substitution C T intron_variant OV-AU 5 14181677 14181677 single base substitution C T upstream_gene_variant OV-AU 5 14181874 14181874 single base substitution T C intron_variant OV-AU 5 14181874 14181874 single base substitution T C upstream_gene_variant OV-AU 5 14186221 14186221 single base substitution G C intron_variant OV-AU 5 14186841 14186841 single base substitution C T intron_variant OV-AU 5 14190664 14190664 single base substitution G C intron_variant OV-AU 5 14201467 14201467 single base substitution C T intron_variant OV-AU 5 14205123 14205123 single base substitution C T intron_variant OV-AU 5 14207771 14207771 single base substitution G C intron_variant OV-AU 5 14210514 14210514 single base substitution G A intron_variant OV-AU 5 14211217 14211217 single base substitution C A intron_variant OV-AU 5 14222864 14222864 single base substitution C G intron_variant OV-AU 5 14222874 14222874 single base substitution C T intron_variant OV-AU 5 14229037 14229037 single base substitution C G intron_variant OV-AU 5 14236406 14236406 single base substitution T G intron_variant OV-AU 5 14236700 14236700 single base substitution C G intron_variant OV-AU 5 14238532 14238532 single base substitution G A intron_variant OV-AU 5 14245208 14245208 single base substitution C T intron_variant OV-AU 5 14250367 14250367 single base substitution G C intron_variant OV-AU 5 14252743 14252743 single base substitution C G intron_variant OV-AU 5 14257555 14257555 single base substitution A T intron_variant OV-AU 5 14272003 14272003 single base substitution T C intron_variant OV-AU 5 14274442 14274442 single base substitution C T intron_variant OV-AU 5 14276620 14276620 single base substitution G T intron_variant OV-AU 5 14284311 14284311 single base substitution T A intron_variant OV-AU 5 14293746 14293746 single base substitution C T downstream_gene_variant OV-AU 5 14293746 14293746 single base substitution C T intron_variant OV-AU 5 14295155 14295155 single base substitution G A downstream_gene_variant OV-AU 5 14295155 14295155 single base substitution G A intron_variant OV-AU 5 14299163 14299163 single base substitution A G downstream_gene_variant OV-AU 5 14299163 14299163 single base substitution A G intron_variant OV-AU 5 14300706 14300706 single base substitution G T downstream_gene_variant OV-AU 5 14300706 14300706 single base substitution G T intron_variant OV-AU 5 14300836 14300836 single base substitution G A downstream_gene_variant OV-AU 5 14300836 14300836 single base substitution G A intron_variant OV-AU 5 14305465 14305465 single base substitution G T intron_variant OV-AU 5 14307063 14307063 single base substitution T G intron_variant OV-AU 5 14307983 14307983 single base substitution C G intron_variant OV-AU 5 14308838 14308838 single base substitution C T intron_variant OV-AU 5 14318496 14318496 single base substitution G A intron_variant OV-AU 5 14319503 14319503 single base substitution A C intron_variant OV-AU 5 14319761 14319761 single base substitution A T intron_variant OV-AU 5 14321376 14321376 single base substitution C T intron_variant OV-AU 5 14326901 14326901 single base substitution T C intron_variant OV-AU 5 14342735 14342735 single base substitution C T intron_variant OV-AU 5 14351630 14351630 single base substitution G C intron_variant OV-AU 5 14354963 14354963 single base substitution G C intron_variant OV-AU 5 14355477 14355477 single base substitution A G intron_variant OV-AU 5 14359862 14359862 single base substitution G A intron_variant OV-AU 5 14365783 14365783 single base substitution C A intron_variant OV-AU 5 14375014 14375014 single base substitution A G intron_variant OV-AU 5 14377062 14377062 single base substitution C T intron_variant OV-AU 5 14385358 14385358 single base substitution G T intron_variant OV-AU 5 14385358 14385358 single base substitution G T upstream_gene_variant OV-AU 5 14398453 14398453 single base substitution G C downstream_gene_variant OV-AU 5 14398453 14398453 single base substitution G C intron_variant OV-AU 5 14398453 14398453 single base substitution G C upstream_gene_variant OV-AU 5 14399309 14399309 single base substitution G C 3_prime_UTR_variant OV-AU 5 14399309 14399309 single base substitution G C downstream_gene_variant OV-AU 5 14399309 14399309 single base substitution G C intron_variant OV-AU 5 14399633 14399633 single base substitution T C downstream_gene_variant OV-AU 5 14399633 14399633 single base substitution T C intron_variant OV-AU 5 14412499 14412499 single base substitution C T intron_variant OV-AU 5 14421894 14421894 single base substitution A T downstream_gene_variant OV-AU 5 14421894 14421894 single base substitution A T intron_variant OV-AU 5 14423578 14423578 single base substitution G T downstream_gene_variant OV-AU 5 14423578 14423578 single base substitution G T intron_variant OV-AU 5 14436935 14436935 single base substitution C A intron_variant OV-AU 5 14436935 14436935 single base substitution C A upstream_gene_variant OV-AU 5 14438054 14438054 single base substitution C G intron_variant OV-AU 5 14438054 14438054 single base substitution C G upstream_gene_variant OV-AU 5 14440758 14440758 single base substitution G A intron_variant OV-AU 5 14440758 14440758 single base substitution G A upstream_gene_variant OV-AU 5 14440866 14440866 single base substitution G C intron_variant OV-AU 5 14440866 14440866 single base substitution G C upstream_gene_variant OV-AU 5 14441531 14441531 single base substitution C T intron_variant OV-AU 5 14444584 14444584 single base substitution G A intron_variant OV-AU 5 14446212 14446212 single base substitution C A intron_variant OV-AU 5 14450731 14450731 single base substitution T A intron_variant OV-AU 5 14452385 14452385 single base substitution T G intron_variant OV-AU 5 14458371 14458371 single base substitution G A intron_variant OV-AU 5 14458918 14458918 single base substitution C A intron_variant OV-AU 5 14463881 14463881 single base substitution C T intron_variant OV-AU 5 14465734 14465734 single base substitution C T exon_variant OV-AU 5 14465734 14465734 single base substitution C T synonymous_variant L1649L 4947C>T OV-AU 5 14465734 14465734 single base substitution C T synonymous_variant L1916L 5748C>T OV-AU 5 14466281 14466281 single base substitution A G exon_variant OV-AU 5 14466281 14466281 single base substitution A G intron_variant OV-AU 5 14470385 14470385 single base substitution G T downstream_gene_variant OV-AU 5 14470385 14470385 single base substitution G T intron_variant OV-AU 5 14470385 14470385 single base substitution G T upstream_gene_variant OV-AU 5 14471536 14471536 single base substitution A C downstream_gene_variant OV-AU 5 14471536 14471536 single base substitution A C exon_variant OV-AU 5 14471536 14471536 single base substitution A C missense_variant E1691A 5072A>C OV-AU 5 14471536 14471536 single base substitution A C missense_variant E1958A 5873A>C OV-AU 5 14471536 14471536 single base substitution A C upstream_gene_variant OV-AU 5 14471671 14471671 single base substitution G A intron_variant OV-AU 5 14471671 14471671 single base substitution G A upstream_gene_variant OV-AU 5 14483232 14483232 single base substitution C G downstream_gene_variant OV-AU 5 14483232 14483232 single base substitution C G intron_variant OV-AU 5 14491330 14491330 single base substitution A T downstream_gene_variant OV-AU 5 14491330 14491330 single base substitution A T intron_variant OV-AU 5 14491330 14491330 single base substitution A T upstream_gene_variant OV-AU 5 14498856 14498856 single base substitution G C downstream_gene_variant OV-AU 5 14498856 14498856 single base substitution G C exon_variant OV-AU 5 14498856 14498856 single base substitution G C intron_variant OV-AU 5 14500040 14500040 single base substitution G T downstream_gene_variant OV-AU 5 14500040 14500040 single base substitution G T intron_variant OV-AU 5 14503245 14503245 single base substitution C T downstream_gene_variant OV-AU 5 14503245 14503245 single base substitution C T intron_variant OV-AU 5 14503939 14503939 single base substitution G T downstream_gene_variant OV-AU 5 14503939 14503939 single base substitution G T intron_variant OV-AU 5 14504709 14504709 single base substitution A G exon_variant OV-AU 5 14504709 14504709 single base substitution A G intron_variant OV-AU 5 14504709 14504709 single base substitution A G splice_region_variant OV-AU 5 14507393 14507393 single base substitution A T downstream_gene_variant OV-AU 5 14507393 14507393 single base substitution A T intron_variant OV-AU 5 14507810 14507810 single base substitution T A downstream_gene_variant OV-AU 5 14507810 14507810 single base substitution T A intron_variant OV-AU 5 14510605 14510605 single base substitution A G downstream_gene_variant OV-AU 5 14510605 14510605 single base substitution A G intron_variant OV-AU 5 14518169 14518169 single base substitution G T intron_variant OV-AU 5 14521505 14521505 single base substitution G T intron_variant OV-AU 5 14522246 14522246 single base substitution G C intron_variant OV-AU 5 14524363 14524363 single base substitution G C intron_variant OV-AU 5 14529286 14529286 single base substitution G T intron_variant OV-AU 5 14529287 14529287 single base substitution G T intron_variant OV-AU 5 14533775 14533775 single base substitution C G downstream_gene_variant OV-AU 5 14533890 14533890 single base substitution T C downstream_gene_variant OV-AU 5 14535862 14535862 single base substitution C T downstream_gene_variant OV-AU 5 14536087 14536087 single base substitution A T downstream_gene_variant PACA-AU 5 14144855 14144855 insertion of <=200bp - A intron_variant PACA-AU 5 14152568 14152568 single base substitution C T intron_variant PACA-AU 5 14154398 14154398 single base substitution A T intron_variant PACA-AU 5 14155043 14155043 single base substitution G C intron_variant PACA-AU 5 14156046 14156046 single base substitution C T intron_variant PACA-AU 5 14157552 14157552 single base substitution C A intron_variant PACA-AU 5 14165978 14165978 single base substitution C G intron_variant PACA-AU 5 14170623 14170623 single base substitution T C intron_variant PACA-AU 5 14179726 14179726 single base substitution T G intron_variant PACA-AU 5 14179726 14179726 single base substitution T G upstream_gene_variant PACA-AU 5 14181600 14181600 single base substitution A G intron_variant PACA-AU 5 14181600 14181600 single base substitution A G upstream_gene_variant PACA-AU 5 14181991 14181991 single base substitution C T intron_variant PACA-AU 5 14181991 14181991 single base substitution C T upstream_gene_variant PACA-AU 5 14182727 14182727 single base substitution T C intron_variant PACA-AU 5 14182727 14182727 single base substitution T C upstream_gene_variant PACA-AU 5 14189232 14189232 single base substitution T G intron_variant PACA-AU 5 14191538 14191538 deletion of <=200bp A - intron_variant PACA-AU 5 14201508 14201508 single base substitution A T intron_variant PACA-AU 5 14203376 14203376 single base substitution G A intron_variant PACA-AU 5 14203655 14203655 single base substitution C T intron_variant PACA-AU 5 14206146 14206146 single base substitution T C intron_variant PACA-AU 5 14210383 14210383 single base substitution G A intron_variant PACA-AU 5 14211484 14211484 single base substitution C G intron_variant PACA-AU 5 14221714 14221714 single base substitution C T intron_variant PACA-AU 5 14222992 14222992 single base substitution C T intron_variant PACA-AU 5 14224192 14224192 single base substitution T C intron_variant PACA-AU 5 14224956 14224956 single base substitution T A intron_variant PACA-AU 5 14238314 14238314 single base substitution C A intron_variant PACA-AU 5 14244171 14244171 single base substitution G A intron_variant PACA-AU 5 14247317 14247317 single base substitution C T intron_variant PACA-AU 5 14252732 14252732 single base substitution C A intron_variant PACA-AU 5 14252865 14252865 deletion of <=200bp C - intron_variant PACA-AU 5 14258148 14258148 single base substitution C A intron_variant PACA-AU 5 14259898 14259898 single base substitution G T intron_variant PACA-AU 5 14261055 14261055 single base substitution G A intron_variant PACA-AU 5 14261856 14261856 single base substitution G A intron_variant PACA-AU 5 14271161 14271161 single base substitution A G intron_variant PACA-AU 5 14272688 14272688 single base substitution T C intron_variant PACA-AU 5 14273198 14273198 single base substitution C T intron_variant PACA-AU 5 14278138 14278138 single base substitution A C intron_variant PACA-AU 5 14279938 14279938 single base substitution G A intron_variant PACA-AU 5 14285162 14285162 single base substitution T C intron_variant PACA-AU 5 14288170 14288170 single base substitution T G downstream_gene_variant PACA-AU 5 14288170 14288170 single base substitution T G intron_variant PACA-AU 5 14288170 14288170 single base substitution T G upstream_gene_variant PACA-AU 5 14288377 14288377 single base substitution G A downstream_gene_variant PACA-AU 5 14288377 14288377 single base substitution G A intron_variant PACA-AU 5 14288377 14288377 single base substitution G A upstream_gene_variant PACA-AU 5 14301433 14301433 single base substitution C T downstream_gene_variant PACA-AU 5 14301433 14301433 single base substitution C T intron_variant PACA-AU 5 14303644 14303644 single base substitution C T intron_variant PACA-AU 5 14308527 14308527 single base substitution T A intron_variant PACA-AU 5 14309644 14309644 single base substitution G T intron_variant PACA-AU 5 14311685 14311685 single base substitution C A intron_variant PACA-AU 5 14314720 14314720 single base substitution G T intron_variant PACA-AU 5 14315809 14315809 deletion of <=200bp T - intron_variant PACA-AU 5 14319235 14319235 deletion of <=200bp T - intron_variant PACA-AU 5 14320266 14320266 single base substitution A G intron_variant PACA-AU 5 14324725 14324725 single base substitution G A intron_variant PACA-AU 5 14325325 14325325 single base substitution G A intron_variant PACA-AU 5 14327821 14327821 single base substitution C A intron_variant PACA-AU 5 14334576 14334576 single base substitution A C intron_variant PACA-AU 5 14334580 14334580 deletion of <=200bp G - intron_variant PACA-AU 5 14337390 14337390 single base substitution A G intron_variant PACA-AU 5 14338595 14338595 single base substitution C T intron_variant PACA-AU 5 14342885 14342885 single base substitution C T intron_variant PACA-AU 5 14345370 14345370 single base substitution C T intron_variant PACA-AU 5 14347826 14347826 single base substitution C A intron_variant PACA-AU 5 14355430 14355430 single base substitution C G intron_variant PACA-AU 5 14355614 14355614 single base substitution A G intron_variant PACA-AU 5 14358383 14358385 deletion of <=200bp CAG - exon_variant PACA-AU 5 14358383 14358385 deletion of <=200bp CAG - inframe_deletion Q448 PACA-AU 5 14358383 14358385 deletion of <=200bp CAG - inframe_deletion Q666 PACA-AU 5 14358383 14358385 deletion of <=200bp CAG - inframe_deletion Q715 PACA-AU 5 14361191 14361191 single base substitution A G intron_variant PACA-AU 5 14362757 14362757 single base substitution A C intron_variant PACA-AU 5 14369691 14369691 single base substitution C T intron_variant PACA-AU 5 14371856 14371856 single base substitution C T intron_variant PACA-AU 5 14372668 14372668 single base substitution C T intron_variant PACA-AU 5 14381459 14381459 single base substitution G C intron_variant PACA-AU 5 14385969 14385969 single base substitution C G intron_variant PACA-AU 5 14385969 14385969 single base substitution C G upstream_gene_variant PACA-AU 5 14388902 14388902 deletion of <=200bp T - downstream_gene_variant PACA-AU 5 14388902 14388902 deletion of <=200bp T - intron_variant PACA-AU 5 14396268 14396268 single base substitution C T intron_variant PACA-AU 5 14396268 14396268 single base substitution C T upstream_gene_variant PACA-AU 5 14399903 14399903 single base substitution G A downstream_gene_variant PACA-AU 5 14399903 14399903 single base substitution G A intron_variant PACA-AU 5 14400635 14400635 single base substitution A G downstream_gene_variant PACA-AU 5 14400635 14400635 single base substitution A G intron_variant PACA-AU 5 14400865 14400865 single base substitution G A downstream_gene_variant PACA-AU 5 14400865 14400865 single base substitution G A intron_variant PACA-AU 5 14411126 14411126 single base substitution C T intron_variant PACA-AU 5 14412393 14412393 single base substitution G A intron_variant PACA-AU 5 14412765 14412765 single base substitution C T intron_variant PACA-AU 5 14418612 14418612 single base substitution T G intron_variant PACA-AU 5 14418612 14418612 single base substitution T G upstream_gene_variant PACA-AU 5 14419963 14419963 single base substitution G A exon_variant PACA-AU 5 14419963 14419963 single base substitution G A missense_variant R1412Q 4235G>A PACA-AU 5 14419963 14419963 single base substitution G A missense_variant R1679Q 5036G>A PACA-AU 5 14421324 14421324 single base substitution A T downstream_gene_variant PACA-AU 5 14421324 14421324 single base substitution A T intron_variant PACA-AU 5 14430799 14430799 insertion of <=200bp - TTTTATTTTG intron_variant PACA-AU 5 14431734 14431734 single base substitution G A intron_variant PACA-AU 5 14435202 14435202 single base substitution C T intron_variant PACA-AU 5 14437608 14437608 single base substitution C T intron_variant PACA-AU 5 14437608 14437608 single base substitution C T upstream_gene_variant PACA-AU 5 14438373 14438373 single base substitution C T intron_variant PACA-AU 5 14438373 14438373 single base substitution C T upstream_gene_variant PACA-AU 5 14442464 14442464 single base substitution C T intron_variant PACA-AU 5 14443721 14443721 single base substitution G C intron_variant PACA-AU 5 14448468 14448468 single base substitution A G intron_variant PACA-AU 5 14461896 14461896 single base substitution A T intron_variant PACA-AU 5 14466974 14466974 single base substitution C A downstream_gene_variant PACA-AU 5 14466974 14466974 single base substitution C A intron_variant PACA-AU 5 14468429 14468429 single base substitution G A downstream_gene_variant PACA-AU 5 14468429 14468429 single base substitution G A intron_variant PACA-AU 5 14470995 14470995 single base substitution G T downstream_gene_variant PACA-AU 5 14470995 14470995 single base substitution G T intron_variant PACA-AU 5 14470995 14470995 single base substitution G T upstream_gene_variant PACA-AU 5 14472651 14472651 single base substitution A C intron_variant PACA-AU 5 14472651 14472651 single base substitution A C upstream_gene_variant PACA-AU 5 14478785 14478785 single base substitution G T downstream_gene_variant PACA-AU 5 14478785 14478785 single base substitution G T intron_variant PACA-AU 5 14478785 14478785 single base substitution G T upstream_gene_variant PACA-AU 5 14478786 14478786 single base substitution G T downstream_gene_variant PACA-AU 5 14478786 14478786 single base substitution G T intron_variant PACA-AU 5 14478786 14478786 single base substitution G T upstream_gene_variant PACA-AU 5 14479086 14479086 deletion of <=200bp A - downstream_gene_variant PACA-AU 5 14479086 14479086 deletion of <=200bp A - intron_variant PACA-AU 5 14479086 14479086 deletion of <=200bp A - upstream_gene_variant PACA-AU 5 14485904 14485904 single base substitution G C downstream_gene_variant PACA-AU 5 14485904 14485904 single base substitution G C intron_variant PACA-AU 5 14485904 14485904 single base substitution G C upstream_gene_variant PACA-AU 5 14488009 14488009 single base substitution C T downstream_gene_variant PACA-AU 5 14488009 14488009 single base substitution C T exon_variant PACA-AU 5 14488009 14488009 single base substitution C T intron_variant PACA-AU 5 14488009 14488009 single base substitution C T synonymous_variant N2157N 6471C>T PACA-AU 5 14488009 14488009 single base substitution C T synonymous_variant N2424N 7272C>T PACA-AU 5 14488009 14488009 single base substitution C T upstream_gene_variant PACA-AU 5 14492930 14492930 single base substitution G A downstream_gene_variant PACA-AU 5 14492930 14492930 single base substitution G A intron_variant PACA-AU 5 14492930 14492930 single base substitution G A splice_region_variant PACA-AU 5 14511770 14511770 single base substitution C A downstream_gene_variant PACA-AU 5 14511770 14511770 single base substitution C A intron_variant PACA-AU 5 14512778 14512778 single base substitution G C downstream_gene_variant PACA-AU 5 14512778 14512778 single base substitution G C intron_variant PACA-AU 5 14515364 14515364 single base substitution T G intron_variant PACA-AU 5 14516475 14516475 insertion of <=200bp - AT intron_variant PACA-AU 5 14519301 14519301 single base substitution T A intron_variant PACA-AU 5 14521163 14521163 single base substitution G C intron_variant PACA-AU 5 14521685 14521685 single base substitution G A intron_variant PACA-AU 5 14522322 14522322 single base substitution T C intron_variant PACA-AU 5 14524150 14524150 single base substitution C T intron_variant PACA-AU 5 14525292 14525292 single base substitution G A intron_variant PACA-AU 5 14526295 14526295 single base substitution G A intron_variant PACA-AU 5 14530523 14530523 single base substitution A G intron_variant PACA-CA 5 14139634 14139634 single base substitution C T upstream_gene_variant PACA-CA 5 14149763 14149763 single base substitution G A intron_variant PACA-CA 5 14150988 14150988 single base substitution G T intron_variant PACA-CA 5 14154580 14154580 single base substitution C A intron_variant PACA-CA 5 14156014 14156014 single base substitution T G intron_variant PACA-CA 5 14156743 14156743 single base substitution C G intron_variant PACA-CA 5 14160905 14160905 single base substitution A G intron_variant PACA-CA 5 14161029 14161029 insertion of <=200bp - T intron_variant PACA-CA 5 14161187 14161187 single base substitution T C intron_variant PACA-CA 5 14161519 14161519 deletion of <=200bp A - intron_variant PACA-CA 5 14165642 14165642 single base substitution C T intron_variant PACA-CA 5 14168428 14168428 single base substitution C G intron_variant PACA-CA 5 14168919 14168919 single base substitution T A intron_variant PACA-CA 5 14171491 14171491 single base substitution G A intron_variant PACA-CA 5 14172330 14172330 single base substitution T C intron_variant PACA-CA 5 14173710 14173710 insertion of <=200bp - T intron_variant PACA-CA 5 14174866 14174866 single base substitution T C intron_variant PACA-CA 5 14180074 14180074 single base substitution G T intron_variant PACA-CA 5 14180074 14180074 single base substitution G T upstream_gene_variant PACA-CA 5 14181521 14181521 single base substitution C G intron_variant PACA-CA 5 14181521 14181521 single base substitution C G upstream_gene_variant PACA-CA 5 14181683 14181683 single base substitution C G intron_variant PACA-CA 5 14181683 14181683 single base substitution C G upstream_gene_variant PACA-CA 5 14186281 14186281 single base substitution T A intron_variant PACA-CA 5 14187241 14187241 single base substitution A T intron_variant PACA-CA 5 14187242 14187242 single base substitution A T intron_variant PACA-CA 5 14187442 14187442 deletion of <=200bp T - intron_variant PACA-CA 5 14192354 14192354 deletion of <=200bp T - intron_variant PACA-CA 5 14199443 14199443 single base substitution C T intron_variant PACA-CA 5 14201526 14201526 single base substitution C T intron_variant PACA-CA 5 14202561 14202561 single base substitution G T intron_variant PACA-CA 5 14202829 14202829 single base substitution G T intron_variant PACA-CA 5 14203496 14203496 single base substitution C T intron_variant PACA-CA 5 14205013 14205013 single base substitution C T intron_variant PACA-CA 5 14206368 14206368 single base substitution C T intron_variant PACA-CA 5 14216507 14216507 insertion of <=200bp - A intron_variant PACA-CA 5 14218132 14218132 single base substitution C A intron_variant PACA-CA 5 14219426 14219426 single base substitution A G intron_variant PACA-CA 5 14223420 14223420 single base substitution C T intron_variant PACA-CA 5 14229209 14229209 single base substitution T G intron_variant PACA-CA 5 14231012 14231012 single base substitution A G intron_variant PACA-CA 5 14232420 14232420 deletion of <=200bp C - intron_variant PACA-CA 5 14232491 14232491 single base substitution T C intron_variant PACA-CA 5 14234796 14234796 single base substitution C T intron_variant PACA-CA 5 14235899 14235899 single base substitution G A intron_variant PACA-CA 5 14235943 14235943 single base substitution A T intron_variant PACA-CA 5 14236094 14236094 single base substitution C T intron_variant PACA-CA 5 14240954 14240954 deletion of <=200bp T - intron_variant PACA-CA 5 14245608 14245608 single base substitution A T intron_variant PACA-CA 5 14245803 14245803 single base substitution T G intron_variant PACA-CA 5 14247236 14247243 deletion of <=200bp GGCCTGGT - intron_variant PACA-CA 5 14247912 14247912 single base substitution C G intron_variant PACA-CA 5 14248732 14248732 single base substitution G A intron_variant PACA-CA 5 14249396 14249396 single base substitution C T intron_variant PACA-CA 5 14250969 14250969 single base substitution C T intron_variant PACA-CA 5 14251354 14251354 single base substitution G C intron_variant PACA-CA 5 14251515 14251515 single base substitution C T intron_variant PACA-CA 5 14256266 14256266 single base substitution T G intron_variant PACA-CA 5 14257205 14257205 single base substitution A C intron_variant PACA-CA 5 14257943 14257943 single base substitution G A intron_variant PACA-CA 5 14263633 14263633 single base substitution G A intron_variant PACA-CA 5 14265208 14265208 single base substitution T C intron_variant PACA-CA 5 14265929 14265929 single base substitution A G intron_variant PACA-CA 5 14267287 14267287 single base substitution C G intron_variant PACA-CA 5 14267703 14267703 single base substitution A G intron_variant PACA-CA 5 14271655 14271655 single base substitution G A intron_variant PACA-CA 5 14277787 14277787 single base substitution T C intron_variant PACA-CA 5 14282044 14282044 single base substitution G A intron_variant PACA-CA 5 14283872 14283872 single base substitution T A intron_variant PACA-CA 5 14283917 14283917 single base substitution T C intron_variant PACA-CA 5 14290135 14290135 single base substitution G T downstream_gene_variant PACA-CA 5 14290135 14290135 single base substitution G T intron_variant PACA-CA 5 14290135 14290135 single base substitution G T upstream_gene_variant PACA-CA 5 14290814 14290814 single base substitution T G downstream_gene_variant PACA-CA 5 14290814 14290814 single base substitution T G intron_variant PACA-CA 5 14290814 14290814 single base substitution T G upstream_gene_variant PACA-CA 5 14290834 14290834 single base substitution G T downstream_gene_variant PACA-CA 5 14290834 14290834 single base substitution G T exon_variant PACA-CA 5 14290834 14290834 single base substitution G T missense_variant V135F 403G>T PACA-CA 5 14290834 14290834 single base substitution G T missense_variant V184F 550G>T PACA-CA 5 14290834 14290834 single base substitution G T upstream_gene_variant PACA-CA 5 14291295 14291295 single base substitution C G downstream_gene_variant PACA-CA 5 14291295 14291295 single base substitution C G exon_variant PACA-CA 5 14291295 14291295 single base substitution C G missense_variant D288E 864C>G PACA-CA 5 14291295 14291295 single base substitution C G missense_variant D337E 1011C>G PACA-CA 5 14291295 14291295 single base substitution C G missense_variant D70E 210C>G PACA-CA 5 14291295 14291295 single base substitution C G upstream_gene_variant PACA-CA 5 14295512 14295512 single base substitution T C downstream_gene_variant PACA-CA 5 14295512 14295512 single base substitution T C intron_variant PACA-CA 5 14295934 14295934 single base substitution C T downstream_gene_variant PACA-CA 5 14295934 14295934 single base substitution C T intron_variant PACA-CA 5 14298378 14298378 single base substitution G A downstream_gene_variant PACA-CA 5 14298378 14298378 single base substitution G A intron_variant PACA-CA 5 14300887 14300887 single base substitution T C downstream_gene_variant PACA-CA 5 14300887 14300887 single base substitution T C intron_variant PACA-CA 5 14301828 14301828 single base substitution T C downstream_gene_variant PACA-CA 5 14301828 14301828 single base substitution T C intron_variant PACA-CA 5 14303130 14303130 single base substitution G A intron_variant PACA-CA 5 14304683 14304683 single base substitution C A exon_variant PACA-CA 5 14304683 14304683 single base substitution C A synonymous_variant I227I 681C>A PACA-CA 5 14304683 14304683 single base substitution C A synonymous_variant I445I 1335C>A PACA-CA 5 14304683 14304683 single base substitution C A synonymous_variant I494I 1482C>A PACA-CA 5 14305935 14305954 deletion of <=200bp CTGCAAATAAGACAGTGGTC - intron_variant PACA-CA 5 14307275 14307275 single base substitution G A intron_variant PACA-CA 5 14309616 14309616 single base substitution T C intron_variant PACA-CA 5 14309910 14309910 insertion of <=200bp - T intron_variant PACA-CA 5 14310789 14310789 single base substitution C T intron_variant PACA-CA 5 14315424 14315424 single base substitution C T intron_variant PACA-CA 5 14315873 14315873 single base substitution G A intron_variant PACA-CA 5 14321023 14321023 single base substitution C T intron_variant PACA-CA 5 14321029 14321029 single base substitution T G intron_variant PACA-CA 5 14324108 14324108 single base substitution C T intron_variant PACA-CA 5 14324306 14324306 single base substitution G A intron_variant PACA-CA 5 14327420 14327420 single base substitution T C intron_variant PACA-CA 5 14329196 14329196 deletion of <=200bp T - intron_variant PACA-CA 5 14330912 14330924 deletion of <=200bp GAGAAGCATTTCT - exon_variant PACA-CA 5 14330912 14330924 deletion of <=200bp GAGAAGCATTTCT - frameshift_variant GEAFL319 PACA-CA 5 14330912 14330924 deletion of <=200bp GAGAAGCATTTCT - frameshift_variant GEAFL537 PACA-CA 5 14330912 14330924 deletion of <=200bp GAGAAGCATTTCT - frameshift_variant GEAFL586 PACA-CA 5 14334256 14334256 single base substitution C T intron_variant PACA-CA 5 14343855 14343855 single base substitution G A intron_variant PACA-CA 5 14344403 14344403 single base substitution A G intron_variant PACA-CA 5 14344976 14344976 single base substitution T A intron_variant PACA-CA 5 14348852 14348852 insertion of <=200bp - ATGTT intron_variant PACA-CA 5 14349817 14349817 single base substitution T C intron_variant PACA-CA 5 14350005 14350005 single base substitution G T intron_variant PACA-CA 5 14350125 14350125 deletion of <=200bp G - intron_variant PACA-CA 5 14350622 14350622 single base substitution G A intron_variant PACA-CA 5 14355847 14355847 single base substitution A C intron_variant PACA-CA 5 14365520 14365520 single base substitution G C intron_variant PACA-CA 5 14369581 14369581 single base substitution C T exon_variant PACA-CA 5 14369581 14369581 single base substitution C T synonymous_variant H1006H 3018C>T PACA-CA 5 14369581 14369581 single base substitution C T synonymous_variant H1055H 3165C>T PACA-CA 5 14369581 14369581 single base substitution C T synonymous_variant H788H 2364C>T PACA-CA 5 14369821 14369821 single base substitution G A intron_variant PACA-CA 5 14374955 14374955 insertion of <=200bp - TG intron_variant PACA-CA 5 14375739 14375739 single base substitution A G intron_variant PACA-CA 5 14376018 14376018 single base substitution C T intron_variant PACA-CA 5 14381061 14381061 single base substitution T A intron_variant PACA-CA 5 14381407 14381407 single base substitution G A intron_variant PACA-CA 5 14381446 14381446 single base substitution T C intron_variant PACA-CA 5 14384889 14384889 insertion of <=200bp - A intron_variant PACA-CA 5 14384889 14384889 insertion of <=200bp - A upstream_gene_variant PACA-CA 5 14388005 14388005 single base substitution G T exon_variant PACA-CA 5 14388005 14388005 single base substitution G T intron_variant PACA-CA 5 14388005 14388005 single base substitution G T upstream_gene_variant PACA-CA 5 14390103 14390103 single base substitution G A downstream_gene_variant PACA-CA 5 14390103 14390103 single base substitution G A intron_variant PACA-CA 5 14392263 14392263 single base substitution A G downstream_gene_variant PACA-CA 5 14392263 14392263 single base substitution A G intron_variant PACA-CA 5 14395381 14395381 single base substitution G A intron_variant PACA-CA 5 14395381 14395381 single base substitution G A upstream_gene_variant PACA-CA 5 14397786 14397786 single base substitution G A downstream_gene_variant PACA-CA 5 14397786 14397786 single base substitution G A intron_variant PACA-CA 5 14397786 14397786 single base substitution G A upstream_gene_variant PACA-CA 5 14399146 14399146 single base substitution G A downstream_gene_variant PACA-CA 5 14399146 14399146 single base substitution G A exon_variant PACA-CA 5 14399146 14399146 single base substitution G A synonymous_variant G1260G 3780G>A PACA-CA 5 14399146 14399146 single base substitution G A synonymous_variant G1478G 4434G>A PACA-CA 5 14399146 14399146 single base substitution G A synonymous_variant G1527G 4581G>A PACA-CA 5 14400440 14400440 single base substitution C G downstream_gene_variant PACA-CA 5 14400440 14400440 single base substitution C G intron_variant PACA-CA 5 14400522 14400522 single base substitution A C downstream_gene_variant PACA-CA 5 14400522 14400522 single base substitution A C intron_variant PACA-CA 5 14402426 14402426 single base substitution G A downstream_gene_variant PACA-CA 5 14402426 14402426 single base substitution G A intron_variant PACA-CA 5 14402426 14402426 single base substitution G A upstream_gene_variant PACA-CA 5 14402684 14402684 single base substitution G A downstream_gene_variant PACA-CA 5 14402684 14402684 single base substitution G A intron_variant PACA-CA 5 14402684 14402684 single base substitution G A upstream_gene_variant PACA-CA 5 14403364 14403364 single base substitution G T downstream_gene_variant PACA-CA 5 14403364 14403364 single base substitution G T intron_variant PACA-CA 5 14403364 14403364 single base substitution G T upstream_gene_variant PACA-CA 5 14406146 14406146 single base substitution G T intron_variant PACA-CA 5 14406146 14406146 single base substitution G T upstream_gene_variant PACA-CA 5 14406194 14406194 single base substitution C T intron_variant PACA-CA 5 14406194 14406194 single base substitution C T upstream_gene_variant PACA-CA 5 14406794 14406794 single base substitution C T intron_variant PACA-CA 5 14408983 14408983 single base substitution A T intron_variant PACA-CA 5 14417206 14417206 single base substitution C A intron_variant PACA-CA 5 14417206 14417206 single base substitution C A upstream_gene_variant PACA-CA 5 14418936 14418936 single base substitution T C exon_variant PACA-CA 5 14418936 14418936 single base substitution T C intron_variant PACA-CA 5 14418936 14418936 single base substitution T C upstream_gene_variant PACA-CA 5 14419241 14419241 single base substitution G A intron_variant PACA-CA 5 14419241 14419241 single base substitution G A upstream_gene_variant PACA-CA 5 14422967 14422977 deletion of <=200bp CACACACCTGT - downstream_gene_variant PACA-CA 5 14422967 14422977 deletion of <=200bp CACACACCTGT - intron_variant PACA-CA 5 14422999 14422999 single base substitution T G downstream_gene_variant PACA-CA 5 14422999 14422999 single base substitution T G intron_variant PACA-CA 5 14423221 14423221 single base substitution A C downstream_gene_variant PACA-CA 5 14423221 14423221 single base substitution A C intron_variant PACA-CA 5 14429029 14429029 single base substitution G A intron_variant PACA-CA 5 14433396 14433396 single base substitution A G intron_variant PACA-CA 5 14433696 14433696 deletion of <=200bp A - intron_variant PACA-CA 5 14434268 14434268 single base substitution G A intron_variant PACA-CA 5 14435202 14435202 single base substitution C T intron_variant PACA-CA 5 14438432 14438435 deletion of <=200bp TTAC - intron_variant PACA-CA 5 14438432 14438435 deletion of <=200bp TTAC - upstream_gene_variant PACA-CA 5 14439669 14439669 single base substitution G C intron_variant PACA-CA 5 14439669 14439669 single base substitution G C upstream_gene_variant PACA-CA 5 14440171 14440171 deletion of <=200bp A - intron_variant PACA-CA 5 14440171 14440171 deletion of <=200bp A - upstream_gene_variant PACA-CA 5 14440202 14440202 single base substitution A G intron_variant PACA-CA 5 14440202 14440202 single base substitution A G upstream_gene_variant PACA-CA 5 14441949 14441949 single base substitution T A intron_variant PACA-CA 5 14453218 14453218 deletion of <=200bp T - intron_variant PACA-CA 5 14454683 14454683 single base substitution C A intron_variant PACA-CA 5 14455210 14455210 single base substitution C T intron_variant PACA-CA 5 14459300 14459300 single base substitution C T intron_variant PACA-CA 5 14459968 14459968 single base substitution T A intron_variant PACA-CA 5 14465272 14465272 single base substitution T A intron_variant PACA-CA 5 14469626 14469626 insertion of <=200bp - A downstream_gene_variant PACA-CA 5 14469626 14469626 insertion of <=200bp - A intron_variant PACA-CA 5 14469626 14469626 insertion of <=200bp - A upstream_gene_variant PACA-CA 5 14473136 14473136 single base substitution A G intron_variant PACA-CA 5 14473136 14473136 single base substitution A G upstream_gene_variant PACA-CA 5 14477472 14477472 single base substitution A G downstream_gene_variant PACA-CA 5 14477472 14477472 single base substitution A G intron_variant PACA-CA 5 14477472 14477472 single base substitution A G upstream_gene_variant PACA-CA 5 14480505 14480505 deletion of <=200bp T - downstream_gene_variant PACA-CA 5 14480505 14480505 deletion of <=200bp T - intron_variant PACA-CA 5 14480505 14480505 deletion of <=200bp T - upstream_gene_variant PACA-CA 5 14484377 14484377 insertion of <=200bp - T downstream_gene_variant PACA-CA 5 14484377 14484377 insertion of <=200bp - T intron_variant PACA-CA 5 14484377 14484377 insertion of <=200bp - T upstream_gene_variant PACA-CA 5 14485071 14485072 deletion of <=200bp TG - downstream_gene_variant PACA-CA 5 14485071 14485072 deletion of <=200bp TG - intron_variant PACA-CA 5 14485071 14485072 deletion of <=200bp TG - upstream_gene_variant PACA-CA 5 14487260 14487260 single base substitution G T intron_variant PACA-CA 5 14487260 14487260 single base substitution G T upstream_gene_variant PACA-CA 5 14487376 14487376 single base substitution C T intron_variant PACA-CA 5 14487376 14487376 single base substitution C T upstream_gene_variant PACA-CA 5 14488376 14488376 single base substitution G A downstream_gene_variant PACA-CA 5 14488376 14488376 single base substitution G A exon_variant PACA-CA 5 14488376 14488376 single base substitution G A intron_variant PACA-CA 5 14488376 14488376 single base substitution G A splice_region_variant PACA-CA 5 14488376 14488376 single base substitution G A upstream_gene_variant PACA-CA 5 14495972 14495972 single base substitution G C intron_variant PACA-CA 5 14495972 14495972 single base substitution G C upstream_gene_variant PACA-CA 5 14501280 14501280 single base substitution A G downstream_gene_variant PACA-CA 5 14501280 14501280 single base substitution A G intron_variant PACA-CA 5 14504022 14504022 single base substitution C T downstream_gene_variant PACA-CA 5 14504022 14504022 single base substitution C T intron_variant PACA-CA 5 14506056 14506056 single base substitution C T downstream_gene_variant PACA-CA 5 14506056 14506056 single base substitution C T intron_variant PACA-CA 5 14506136 14506136 single base substitution C T downstream_gene_variant PACA-CA 5 14506136 14506136 single base substitution C T intron_variant PACA-CA 5 14507581 14507581 single base substitution C G downstream_gene_variant PACA-CA 5 14507581 14507581 single base substitution C G intron_variant PACA-CA 5 14508630 14508630 single base substitution G A 3_prime_UTR_variant PACA-CA 5 14508630 14508630 single base substitution G A downstream_gene_variant PACA-CA 5 14508630 14508630 single base substitution G A intron_variant PACA-CA 5 14510740 14510740 single base substitution C T downstream_gene_variant PACA-CA 5 14510740 14510740 single base substitution C T intron_variant PACA-CA 5 14513189 14513189 single base substitution G T downstream_gene_variant PACA-CA 5 14513189 14513189 single base substitution G T intron_variant PACA-CA 5 14513856 14513856 single base substitution T C downstream_gene_variant PACA-CA 5 14513856 14513856 single base substitution T C intron_variant PACA-CA 5 14519308 14519308 single base substitution G T intron_variant PACA-CA 5 14522283 14522283 single base substitution T C intron_variant PACA-CA 5 14522757 14522757 single base substitution G A intron_variant PACA-CA 5 14525183 14525186 deletion of <=200bp ATAA - intron_variant PACA-CA 5 14525206 14525206 single base substitution A C intron_variant PACA-CA 5 14526622 14526622 single base substitution G A intron_variant PACA-CA 5 14527660 14527660 single base substitution A G intron_variant PACA-CA 5 14532877 14532877 single base substitution G A downstream_gene_variant PAEN-AU 5 14168757 14168757 single base substitution C T intron_variant PAEN-AU 5 14259898 14259898 single base substitution G T intron_variant PAEN-AU 5 14341023 14341023 single base substitution T C intron_variant PAEN-AU 5 14350298 14350298 single base substitution C G intron_variant PAEN-AU 5 14362656 14362656 single base substitution G A intron_variant PAEN-AU 5 14379519 14379519 single base substitution T A intron_variant PAEN-AU 5 14428991 14428991 single base substitution G C intron_variant PAEN-AU 5 14431544 14431544 single base substitution A T intron_variant PAEN-AU 5 14512798 14512798 single base substitution A G downstream_gene_variant PAEN-AU 5 14512798 14512798 single base substitution A G intron_variant PAEN-AU 5 14513764 14513764 single base substitution A G downstream_gene_variant PAEN-AU 5 14513764 14513764 single base substitution A G intron_variant PAEN-IT 5 14140428 14140428 single base substitution C G upstream_gene_variant PAEN-IT 5 14141778 14141778 single base substitution A C upstream_gene_variant PAEN-IT 5 14208801 14208801 single base substitution C G intron_variant PAEN-IT 5 14224041 14224041 single base substitution T G intron_variant PAEN-IT 5 14228300 14228300 single base substitution G A intron_variant PAEN-IT 5 14354284 14354284 single base substitution G C intron_variant PAEN-IT 5 14368351 14368351 single base substitution A C intron_variant PAEN-IT 5 14461198 14461198 single base substitution C T exon_variant PAEN-IT 5 14461198 14461198 single base substitution C T synonymous_variant I1491I 4473C>T PAEN-IT 5 14461198 14461198 single base substitution C T synonymous_variant I1758I 5274C>T PAEN-IT 5 14491547 14491547 single base substitution G A downstream_gene_variant PAEN-IT 5 14491547 14491547 single base substitution G A intron_variant PAEN-IT 5 14491547 14491547 single base substitution G A upstream_gene_variant PAEN-IT 5 14492062 14492062 single base substitution G T downstream_gene_variant PAEN-IT 5 14492062 14492062 single base substitution G T intron_variant PAEN-IT 5 14492062 14492062 single base substitution G T upstream_gene_variant PAEN-IT 5 14505488 14505488 single base substitution G A downstream_gene_variant PAEN-IT 5 14505488 14505488 single base substitution G A intron_variant PBCA-DE 5 14145613 14145613 single base substitution C T intron_variant PBCA-DE 5 14149535 14149535 single base substitution C A intron_variant PBCA-DE 5 14153702 14153702 single base substitution G A intron_variant PBCA-DE 5 14165372 14165372 single base substitution C T intron_variant PBCA-DE 5 14177825 14177825 single base substitution C T intron_variant PBCA-DE 5 14178172 14178172 single base substitution A G intron_variant PBCA-DE 5 14191734 14191734 single base substitution C T intron_variant PBCA-DE 5 14194682 14194682 single base substitution G A intron_variant PBCA-DE 5 14195120 14195120 single base substitution G A intron_variant PBCA-DE 5 14207411 14207411 single base substitution A T intron_variant PBCA-DE 5 14216751 14216751 single base substitution G T intron_variant PBCA-DE 5 14228491 14228491 single base substitution A T intron_variant PBCA-DE 5 14234212 14234212 insertion of <=200bp - T intron_variant PBCA-DE 5 14242861 14242861 deletion of <=200bp T - intron_variant PBCA-DE 5 14246593 14246593 single base substitution A T intron_variant PBCA-DE 5 14250237 14250237 single base substitution G A intron_variant PBCA-DE 5 14256562 14256562 single base substitution G A intron_variant PBCA-DE 5 14263040 14263040 single base substitution G A intron_variant PBCA-DE 5 14263199 14263199 single base substitution G A intron_variant PBCA-DE 5 14265029 14265029 single base substitution G T intron_variant PBCA-DE 5 14267875 14267875 insertion of <=200bp - T intron_variant PBCA-DE 5 14276098 14276098 single base substitution C T intron_variant PBCA-DE 5 14282687 14282687 insertion of <=200bp - T intron_variant PBCA-DE 5 14291550 14291550 single base substitution C T downstream_gene_variant PBCA-DE 5 14291550 14291550 single base substitution C T intron_variant PBCA-DE 5 14291550 14291550 single base substitution C T upstream_gene_variant PBCA-DE 5 14295749 14295749 single base substitution G T downstream_gene_variant PBCA-DE 5 14295749 14295749 single base substitution G T intron_variant PBCA-DE 5 14308107 14308107 single base substitution T C intron_variant PBCA-DE 5 14308790 14308790 single base substitution C T intron_variant PBCA-DE 5 14314558 14314558 single base substitution G A intron_variant PBCA-DE 5 14333950 14333951 deletion of <=200bp AA - intron_variant PBCA-DE 5 14348868 14348868 single base substitution A G intron_variant PBCA-DE 5 14356637 14356637 single base substitution G T intron_variant PBCA-DE 5 14383993 14383993 single base substitution G T intron_variant PBCA-DE 5 14383993 14383993 single base substitution G T upstream_gene_variant PBCA-DE 5 14402794 14402794 deletion of <=200bp G - downstream_gene_variant PBCA-DE 5 14402794 14402794 deletion of <=200bp G - intron_variant PBCA-DE 5 14402794 14402794 deletion of <=200bp G - upstream_gene_variant PBCA-DE 5 14403461 14403461 insertion of <=200bp - GTG downstream_gene_variant PBCA-DE 5 14403461 14403461 insertion of <=200bp - GTG intron_variant PBCA-DE 5 14403461 14403461 insertion of <=200bp - GTG upstream_gene_variant PBCA-DE 5 14403512 14403512 single base substitution A G downstream_gene_variant PBCA-DE 5 14403512 14403512 single base substitution A G intron_variant PBCA-DE 5 14403512 14403512 single base substitution A G upstream_gene_variant PBCA-DE 5 14407649 14407649 single base substitution G A intron_variant PBCA-DE 5 14419450 14419450 single base substitution G A intron_variant PBCA-DE 5 14419450 14419450 single base substitution G A upstream_gene_variant PBCA-DE 5 14427590 14427590 single base substitution G A intron_variant PBCA-DE 5 14441223 14441223 single base substitution C T exon_variant PBCA-DE 5 14441223 14441223 single base substitution C T intron_variant PBCA-DE 5 14442266 14442266 single base substitution C T intron_variant PBCA-DE 5 14444098 14444098 insertion of <=200bp - A intron_variant PBCA-DE 5 14446735 14446737 deletion of <=200bp CCT - intron_variant PBCA-DE 5 14456120 14456120 single base substitution C T intron_variant PBCA-DE 5 14469574 14469574 single base substitution G A downstream_gene_variant PBCA-DE 5 14469574 14469574 single base substitution G A intron_variant PBCA-DE 5 14469574 14469574 single base substitution G A upstream_gene_variant PBCA-DE 5 14470752 14470752 single base substitution G A downstream_gene_variant PBCA-DE 5 14470752 14470752 single base substitution G A intron_variant PBCA-DE 5 14470752 14470752 single base substitution G A upstream_gene_variant PBCA-DE 5 14479106 14479106 single base substitution C A downstream_gene_variant PBCA-DE 5 14479106 14479106 single base substitution C A intron_variant PBCA-DE 5 14479106 14479106 single base substitution C A upstream_gene_variant PBCA-DE 5 14488489 14488489 single base substitution G A downstream_gene_variant PBCA-DE 5 14488489 14488489 single base substitution G A exon_variant PBCA-DE 5 14488489 14488489 single base substitution G A intron_variant PBCA-DE 5 14488489 14488489 single base substitution G A upstream_gene_variant PBCA-DE 5 14535015 14535015 single base substitution C T downstream_gene_variant PBCA-DE 5 14536690 14536690 single base substitution C T downstream_gene_variant PRAD-CA 5 14155305 14155305 single base substitution T G intron_variant PRAD-CA 5 14161089 14161089 single base substitution G T intron_variant PRAD-CA 5 14219071 14219071 single base substitution C G intron_variant PRAD-CA 5 14259105 14259105 single base substitution G A intron_variant PRAD-CA 5 14260033 14260033 single base substitution T A intron_variant PRAD-CA 5 14269497 14269497 single base substitution C A intron_variant PRAD-CA 5 14281512 14281512 single base substitution A G intron_variant PRAD-CA 5 14285979 14285979 single base substitution C T intron_variant PRAD-CA 5 14303296 14303296 single base substitution T C intron_variant PRAD-CA 5 14309964 14309964 single base substitution T G intron_variant PRAD-CA 5 14324729 14324729 single base substitution T G intron_variant PRAD-CA 5 14342495 14342495 single base substitution A G intron_variant PRAD-CA 5 14348891 14348891 single base substitution A G intron_variant PRAD-CA 5 14356113 14356113 single base substitution C T intron_variant PRAD-CA 5 14362855 14362855 single base substitution C T intron_variant PRAD-CA 5 14410189 14410189 single base substitution C G intron_variant PRAD-CA 5 14410941 14410941 single base substitution G A intron_variant PRAD-CA 5 14415363 14415363 single base substitution A G intron_variant PRAD-CA 5 14415363 14415363 single base substitution A G upstream_gene_variant PRAD-CA 5 14434264 14434264 single base substitution C T intron_variant PRAD-CA 5 14446232 14446232 single base substitution G A intron_variant PRAD-CA 5 14478547 14478547 single base substitution G T downstream_gene_variant PRAD-CA 5 14478547 14478547 single base substitution G T intron_variant PRAD-CA 5 14478547 14478547 single base substitution G T upstream_gene_variant PRAD-CA 5 14482163 14482163 single base substitution T G downstream_gene_variant PRAD-CA 5 14482163 14482163 single base substitution T G intron_variant PRAD-CA 5 14482163 14482163 single base substitution T G upstream_gene_variant PRAD-CA 5 14506705 14506705 single base substitution G C downstream_gene_variant PRAD-CA 5 14506705 14506705 single base substitution G C intron_variant PRAD-CA 5 14532265 14532265 single base substitution C T downstream_gene_variant PRAD-UK 5 14139604 14139604 single base substitution C G upstream_gene_variant PRAD-UK 5 14141839 14141839 single base substitution C A upstream_gene_variant PRAD-UK 5 14165464 14165464 single base substitution A T intron_variant PRAD-UK 5 14171097 14171097 deletion of <=200bp A - intron_variant PRAD-UK 5 14171392 14171393 deletion of <=200bp AT - intron_variant PRAD-UK 5 14180192 14180193 deletion of <=200bp AG - intron_variant PRAD-UK 5 14180192 14180193 deletion of <=200bp AG - upstream_gene_variant PRAD-UK 5 14196162 14196162 single base substitution C T intron_variant PRAD-UK 5 14224760 14224760 single base substitution C T intron_variant PRAD-UK 5 14231768 14231768 single base substitution A G intron_variant PRAD-UK 5 14238933 14238933 single base substitution A C intron_variant PRAD-UK 5 14266440 14266440 single base substitution A G intron_variant PRAD-UK 5 14311404 14311404 single base substitution G T intron_variant PRAD-UK 5 14321764 14321764 single base substitution C T intron_variant PRAD-UK 5 14328455 14328455 single base substitution G T intron_variant PRAD-UK 5 14334015 14334015 single base substitution G A intron_variant PRAD-UK 5 14352516 14352516 single base substitution G T intron_variant PRAD-UK 5 14375403 14375403 single base substitution G A intron_variant PRAD-UK 5 14380633 14380633 single base substitution C G intron_variant PRAD-UK 5 14384068 14384068 single base substitution T C intron_variant PRAD-UK 5 14384068 14384068 single base substitution T C upstream_gene_variant PRAD-UK 5 14384958 14384958 single base substitution G A intron_variant PRAD-UK 5 14384958 14384958 single base substitution G A upstream_gene_variant PRAD-UK 5 14421212 14421212 single base substitution C G downstream_gene_variant PRAD-UK 5 14421212 14421212 single base substitution C G intron_variant PRAD-UK 5 14422811 14422811 single base substitution T G downstream_gene_variant PRAD-UK 5 14422811 14422811 single base substitution T G intron_variant PRAD-UK 5 14429267 14429267 single base substitution G C intron_variant PRAD-UK 5 14437114 14437114 single base substitution G T intron_variant PRAD-UK 5 14437114 14437114 single base substitution G T upstream_gene_variant PRAD-UK 5 14437533 14437533 single base substitution A G intron_variant PRAD-UK 5 14437533 14437533 single base substitution A G upstream_gene_variant PRAD-UK 5 14439007 14439007 single base substitution C T intron_variant PRAD-UK 5 14439007 14439007 single base substitution C T upstream_gene_variant PRAD-UK 5 14447791 14447791 deletion of <=200bp T - intron_variant PRAD-UK 5 14448767 14448767 single base substitution A T intron_variant PRAD-UK 5 14459729 14459729 single base substitution G A intron_variant PRAD-UK 5 14469551 14469551 single base substitution T C downstream_gene_variant PRAD-UK 5 14469551 14469551 single base substitution T C intron_variant PRAD-UK 5 14469551 14469551 single base substitution T C upstream_gene_variant PRAD-UK 5 14473512 14473512 single base substitution A G intron_variant PRAD-UK 5 14473512 14473512 single base substitution A G upstream_gene_variant PRAD-UK 5 14480126 14480169 multiple base substitution (>=2bp and <=200bp) GAGGTGGCGGGACAAACTCTGGTGTCAGGAGTGAGTTTGCTGAG GTGGCGGGACAGACTCTGGTGTCAGGAGTGAGTTTGCTGAA downstream_gene_variant PRAD-UK 5 14480126 14480169 multiple base substitution (>=2bp and <=200bp) GAGGTGGCGGGACAAACTCTGGTGTCAGGAGTGAGTTTGCTGAG GTGGCGGGACAGACTCTGGTGTCAGGAGTGAGTTTGCTGAA splice_region_variant PRAD-UK 5 14480126 14480169 multiple base substitution (>=2bp and <=200bp) GAGGTGGCGGGACAAACTCTGGTGTCAGGAGTGAGTTTGCTGAG GTGGCGGGACAGACTCTGGTGTCAGGAGTGAGTTTGCTGAA upstream_gene_variant PRAD-UK 5 14482679 14482679 single base substitution T A downstream_gene_variant PRAD-UK 5 14482679 14482679 single base substitution T A exon_variant PRAD-UK 5 14482679 14482679 single base substitution T A intron_variant PRAD-UK 5 14487471 14487471 single base substitution T C intron_variant PRAD-UK 5 14487471 14487471 single base substitution T C upstream_gene_variant PRAD-UK 5 14497554 14497554 single base substitution C T downstream_gene_variant PRAD-UK 5 14497554 14497554 single base substitution C T intron_variant PRAD-UK 5 14497554 14497554 single base substitution C T upstream_gene_variant PRAD-UK 5 14505464 14505464 single base substitution G A downstream_gene_variant PRAD-UK 5 14505464 14505464 single base substitution G A intron_variant PRAD-UK 5 14505918 14505918 single base substitution G T downstream_gene_variant PRAD-UK 5 14505918 14505918 single base substitution G T intron_variant PRAD-UK 5 14523987 14523987 single base substitution C T intron_variant PRAD-US 5 14363859 14363859 single base substitution T G exon_variant PRAD-US 5 14363859 14363859 single base substitution T G missense_variant S537A 1609T>G PRAD-US 5 14363859 14363859 single base substitution T G missense_variant S755A 2263T>G PRAD-US 5 14363859 14363859 single base substitution T G missense_variant S804A 2410T>G PRAD-US 5 14366990 14366990 single base substitution G A exon_variant PRAD-US 5 14366990 14366990 single base substitution G A missense_variant G659R 1975G>A PRAD-US 5 14366990 14366990 single base substitution G A missense_variant G877R 2629G>A PRAD-US 5 14366990 14366990 single base substitution G A missense_variant G926R 2776G>A PRAD-US 5 14504503 14504503 single base substitution G A intron_variant PRAD-US 5 14504503 14504503 single base substitution G A missense_variant G2629S 7885G>A PRAD-US 5 14504503 14504503 single base substitution G A missense_variant G2805S 8413G>A PRAD-US 5 14504503 14504503 single base substitution G A missense_variant G304S 910G>A PRAD-US 5 14504503 14504503 single base substitution G A splice_region_variant PRAD-US 5 14504649 14504649 single base substitution C T 3_prime_UTR_variant PRAD-US 5 14504649 14504649 single base substitution C T exon_variant PRAD-US 5 14504649 14504649 single base substitution C T intron_variant PRAD-US 5 14504649 14504649 single base substitution C T synonymous_variant V2677V 8031C>T PRAD-US 5 14504649 14504649 single base substitution C T synonymous_variant V2853V 8559C>T PRAD-US 5 14504649 14504649 single base substitution C T synonymous_variant V352V 1056C>T PRAD-US 5 14508079 14508079 single base substitution T C 3_prime_UTR_variant PRAD-US 5 14508079 14508079 single base substitution T C downstream_gene_variant PRAD-US 5 14508079 14508079 single base substitution T C exon_variant PRAD-US 5 14508079 14508079 single base substitution T C intron_variant PRAD-US 5 14508079 14508079 single base substitution T C missense_variant Y2772H 8314T>C PRAD-US 5 14508079 14508079 single base substitution T C missense_variant Y2948H 8842T>C PRAD-US 5 14508079 14508079 single base substitution T C missense_variant Y447H 1339T>C READ-US 5 14304685 14304685 single base substitution C G exon_variant READ-US 5 14304685 14304685 single base substitution C G missense_variant T228S 683C>G READ-US 5 14304685 14304685 single base substitution C G missense_variant T446S 1337C>G READ-US 5 14304685 14304685 single base substitution C G missense_variant T495S 1484C>G READ-US 5 14363897 14363897 single base substitution C T exon_variant READ-US 5 14363897 14363897 single base substitution C T synonymous_variant F549F 1647C>T READ-US 5 14363897 14363897 single base substitution C T synonymous_variant F767F 2301C>T READ-US 5 14363897 14363897 single base substitution C T synonymous_variant F816F 2448C>T READ-US 5 14419928 14419928 single base substitution C T exon_variant READ-US 5 14419928 14419928 single base substitution C T synonymous_variant F1400F 4200C>T READ-US 5 14419928 14419928 single base substitution C T synonymous_variant F1667F 5001C>T READ-US 5 14508111 14508111 single base substitution C T 3_prime_UTR_variant READ-US 5 14508111 14508111 single base substitution C T downstream_gene_variant READ-US 5 14508111 14508111 single base substitution C T exon_variant READ-US 5 14508111 14508111 single base substitution C T intron_variant READ-US 5 14508111 14508111 single base substitution C T synonymous_variant F2782F 8346C>T READ-US 5 14508111 14508111 single base substitution C T synonymous_variant F2958F 8874C>T READ-US 5 14508111 14508111 single base substitution C T synonymous_variant F457F 1371C>T RECA-EU 5 14139702 14139702 single base substitution G T upstream_gene_variant RECA-EU 5 14139843 14139843 single base substitution A C upstream_gene_variant RECA-EU 5 14161579 14161579 single base substitution T C intron_variant RECA-EU 5 14173698 14173698 single base substitution G A intron_variant RECA-EU 5 14174771 14174771 single base substitution A T intron_variant RECA-EU 5 14175666 14175666 single base substitution A C intron_variant RECA-EU 5 14182650 14182650 single base substitution G A intron_variant RECA-EU 5 14182650 14182650 single base substitution G A upstream_gene_variant RECA-EU 5 14192529 14192529 single base substitution G A intron_variant RECA-EU 5 14200318 14200318 single base substitution C T intron_variant RECA-EU 5 14204501 14204501 single base substitution T A intron_variant RECA-EU 5 14207822 14207822 single base substitution G T intron_variant RECA-EU 5 14208700 14208700 single base substitution C T intron_variant RECA-EU 5 14211137 14211137 single base substitution T G intron_variant RECA-EU 5 14213149 14213149 single base substitution A G intron_variant RECA-EU 5 14213447 14213447 single base substitution T A intron_variant RECA-EU 5 14216200 14216200 single base substitution A T intron_variant RECA-EU 5 14217828 14217828 single base substitution G T intron_variant RECA-EU 5 14222152 14222152 single base substitution C G intron_variant RECA-EU 5 14224081 14224081 single base substitution G T intron_variant RECA-EU 5 14224082 14224082 single base substitution T C intron_variant RECA-EU 5 14250617 14250617 single base substitution A T intron_variant RECA-EU 5 14251970 14251970 single base substitution T A intron_variant RECA-EU 5 14268316 14268316 single base substitution T G intron_variant RECA-EU 5 14268563 14268563 single base substitution T A intron_variant RECA-EU 5 14268565 14268565 single base substitution A C intron_variant RECA-EU 5 14271878 14271878 single base substitution C T intron_variant RECA-EU 5 14292213 14292213 single base substitution T C downstream_gene_variant RECA-EU 5 14292213 14292213 single base substitution T C intron_variant RECA-EU 5 14292213 14292213 single base substitution T C upstream_gene_variant RECA-EU 5 14292597 14292597 single base substitution C A downstream_gene_variant RECA-EU 5 14292597 14292597 single base substitution C A intron_variant RECA-EU 5 14292597 14292597 single base substitution C A upstream_gene_variant RECA-EU 5 14292599 14292599 single base substitution T G downstream_gene_variant RECA-EU 5 14292599 14292599 single base substitution T G intron_variant RECA-EU 5 14292599 14292599 single base substitution T G upstream_gene_variant RECA-EU 5 14304539 14304539 single base substitution G A intron_variant RECA-EU 5 14312817 14312817 single base substitution T G intron_variant RECA-EU 5 14313411 14313411 single base substitution A C intron_variant RECA-EU 5 14321031 14321031 single base substitution A T intron_variant RECA-EU 5 14321544 14321544 single base substitution G T intron_variant RECA-EU 5 14329513 14329513 single base substitution A T intron_variant RECA-EU 5 14331631 14331631 single base substitution G A intron_variant RECA-EU 5 14346233 14346233 single base substitution T A intron_variant RECA-EU 5 14347848 14347848 single base substitution T A intron_variant RECA-EU 5 14348720 14348720 single base substitution T C intron_variant RECA-EU 5 14355839 14355839 single base substitution A C intron_variant RECA-EU 5 14361778 14361778 single base substitution G A intron_variant RECA-EU 5 14362736 14362736 single base substitution A T intron_variant RECA-EU 5 14372831 14372831 single base substitution G A intron_variant RECA-EU 5 14373919 14373919 single base substitution A G intron_variant RECA-EU 5 14378825 14378825 single base substitution C A intron_variant RECA-EU 5 14388270 14388270 single base substitution T C downstream_gene_variant RECA-EU 5 14388270 14388270 single base substitution T C intron_variant RECA-EU 5 14388270 14388270 single base substitution T C upstream_gene_variant RECA-EU 5 14392580 14392580 single base substitution C G downstream_gene_variant RECA-EU 5 14392580 14392580 single base substitution C G intron_variant RECA-EU 5 14398155 14398155 single base substitution C A downstream_gene_variant RECA-EU 5 14398155 14398155 single base substitution C A intron_variant RECA-EU 5 14398155 14398155 single base substitution C A upstream_gene_variant RECA-EU 5 14413155 14413155 single base substitution A T intron_variant RECA-EU 5 14429021 14429021 single base substitution A T intron_variant RECA-EU 5 14430413 14430413 single base substitution G C intron_variant RECA-EU 5 14458089 14458089 single base substitution C T intron_variant RECA-EU 5 14471725 14471725 single base substitution C G intron_variant RECA-EU 5 14471725 14471725 single base substitution C G upstream_gene_variant RECA-EU 5 14476131 14476131 single base substitution A T intron_variant RECA-EU 5 14476131 14476131 single base substitution A T upstream_gene_variant RECA-EU 5 14481366 14481366 single base substitution G C downstream_gene_variant RECA-EU 5 14481366 14481366 single base substitution G C exon_variant RECA-EU 5 14481366 14481366 single base substitution G C missense_variant K1853N 5559G>C RECA-EU 5 14481366 14481366 single base substitution G C missense_variant K2120N 6360G>C RECA-EU 5 14481366 14481366 single base substitution G C upstream_gene_variant RECA-EU 5 14486542 14486542 single base substitution T A downstream_gene_variant RECA-EU 5 14486542 14486542 single base substitution T A intron_variant RECA-EU 5 14486542 14486542 single base substitution T A upstream_gene_variant RECA-EU 5 14492027 14492027 single base substitution A T downstream_gene_variant RECA-EU 5 14492027 14492027 single base substitution A T intron_variant RECA-EU 5 14492027 14492027 single base substitution A T upstream_gene_variant RECA-EU 5 14495541 14495541 single base substitution A G intron_variant RECA-EU 5 14495541 14495541 single base substitution A G upstream_gene_variant RECA-EU 5 14503362 14503362 single base substitution G T downstream_gene_variant RECA-EU 5 14503362 14503362 single base substitution G T intron_variant RECA-EU 5 14507193 14507193 single base substitution A T downstream_gene_variant RECA-EU 5 14507193 14507193 single base substitution A T intron_variant RECA-EU 5 14510841 14510841 single base substitution T G downstream_gene_variant RECA-EU 5 14510841 14510841 single base substitution T G intron_variant RECA-EU 5 14511911 14511911 single base substitution G A downstream_gene_variant RECA-EU 5 14511911 14511911 single base substitution G A intron_variant RECA-EU 5 14512788 14512788 single base substitution A G downstream_gene_variant RECA-EU 5 14512788 14512788 single base substitution A G intron_variant RECA-EU 5 14520422 14520422 single base substitution A T intron_variant RECA-EU 5 14529263 14529263 single base substitution A G intron_variant SKCA-BR 5 14138855 14138855 single base substitution G A upstream_gene_variant SKCA-BR 5 14140005 14140005 single base substitution C T upstream_gene_variant SKCA-BR 5 14140474 14140474 single base substitution T C upstream_gene_variant SKCA-BR 5 14145477 14145477 single base substitution A G intron_variant SKCA-BR 5 14145784 14145784 single base substitution C T intron_variant SKCA-BR 5 14149683 14149683 insertion of <=200bp - CG intron_variant SKCA-BR 5 14152469 14152469 insertion of <=200bp - TTTTG intron_variant SKCA-BR 5 14156442 14156442 single base substitution G A intron_variant SKCA-BR 5 14159430 14159431 deletion of <=200bp CA - intron_variant SKCA-BR 5 14159969 14159969 single base substitution C T intron_variant SKCA-BR 5 14161885 14161885 single base substitution G A intron_variant SKCA-BR 5 14169532 14169548 deletion of <=200bp GAAAGATGGAAAATTTC - intron_variant SKCA-BR 5 14173014 14173014 single base substitution T A intron_variant SKCA-BR 5 14173358 14173358 single base substitution A G intron_variant SKCA-BR 5 14174522 14174522 single base substitution C G intron_variant SKCA-BR 5 14174534 14174534 single base substitution A G intron_variant SKCA-BR 5 14174543 14174543 single base substitution C T intron_variant SKCA-BR 5 14174689 14174689 single base substitution T A intron_variant SKCA-BR 5 14176694 14176694 single base substitution C T intron_variant SKCA-BR 5 14176867 14176867 single base substitution A T intron_variant SKCA-BR 5 14181976 14181976 single base substitution C T intron_variant SKCA-BR 5 14181976 14181976 single base substitution C T upstream_gene_variant SKCA-BR 5 14182980 14182982 deletion of <=200bp CCT - intron_variant SKCA-BR 5 14182980 14182982 deletion of <=200bp CCT - upstream_gene_variant SKCA-BR 5 14184048 14184048 single base substitution C T 5_prime_UTR_variant SKCA-BR 5 14184048 14184048 single base substitution C T intron_variant SKCA-BR 5 14184719 14184719 single base substitution C T intron_variant SKCA-BR 5 14191199 14191200 deletion of <=200bp TG - intron_variant SKCA-BR 5 14191213 14191213 single base substitution G A intron_variant SKCA-BR 5 14195309 14195309 single base substitution C T intron_variant SKCA-BR 5 14197298 14197298 single base substitution T C intron_variant SKCA-BR 5 14197603 14197603 single base substitution C A intron_variant SKCA-BR 5 14198376 14198376 single base substitution A C intron_variant SKCA-BR 5 14200404 14200404 single base substitution C T intron_variant SKCA-BR 5 14200775 14200775 single base substitution T G intron_variant SKCA-BR 5 14200781 14200781 single base substitution T G intron_variant SKCA-BR 5 14202440 14202440 single base substitution G T intron_variant SKCA-BR 5 14207541 14207541 single base substitution G A intron_variant SKCA-BR 5 14207897 14207897 single base substitution G A intron_variant SKCA-BR 5 14209300 14209300 single base substitution C T intron_variant SKCA-BR 5 14211699 14211699 insertion of <=200bp - GT intron_variant SKCA-BR 5 14212403 14212403 single base substitution T A intron_variant SKCA-BR 5 14212808 14212808 single base substitution C T intron_variant SKCA-BR 5 14219512 14219512 single base substitution T A intron_variant SKCA-BR 5 14226985 14226985 insertion of <=200bp - CTGCAGCTCTCCTCCTCCCTGGTTTT intron_variant SKCA-BR 5 14230449 14230463 deletion of <=200bp TTGTGTGTGTGTGTG - intron_variant SKCA-BR 5 14231418 14231419 deletion of <=200bp TG - intron_variant SKCA-BR 5 14233425 14233426 deletion of <=200bp TA - intron_variant SKCA-BR 5 14238395 14238395 single base substitution C T intron_variant SKCA-BR 5 14240825 14240825 single base substitution G A intron_variant SKCA-BR 5 14241860 14241860 single base substitution C T intron_variant SKCA-BR 5 14246366 14246366 single base substitution T C intron_variant SKCA-BR 5 14246427 14246427 single base substitution C T intron_variant SKCA-BR 5 14248468 14248468 single base substitution G A intron_variant SKCA-BR 5 14250405 14250405 single base substitution C T intron_variant SKCA-BR 5 14252079 14252079 single base substitution A T intron_variant SKCA-BR 5 14260318 14260318 single base substitution G A intron_variant SKCA-BR 5 14266081 14266081 single base substitution G A intron_variant SKCA-BR 5 14268723 14268723 single base substitution G T intron_variant SKCA-BR 5 14270514 14270514 single base substitution C T intron_variant SKCA-BR 5 14271085 14271085 single base substitution A C intron_variant SKCA-BR 5 14271393 14271393 single base substitution A C intron_variant SKCA-BR 5 14272876 14272876 single base substitution T A intron_variant SKCA-BR 5 14275712 14275712 single base substitution C T intron_variant SKCA-BR 5 14276416 14276416 single base substitution A G intron_variant SKCA-BR 5 14281915 14281915 single base substitution A C intron_variant SKCA-BR 5 14283175 14283175 single base substitution T A intron_variant SKCA-BR 5 14285320 14285320 single base substitution C T intron_variant SKCA-BR 5 14291867 14291867 single base substitution C T downstream_gene_variant SKCA-BR 5 14291867 14291867 single base substitution C T intron_variant SKCA-BR 5 14291867 14291867 single base substitution C T upstream_gene_variant SKCA-BR 5 14301010 14301010 single base substitution C T downstream_gene_variant SKCA-BR 5 14301010 14301010 single base substitution C T intron_variant SKCA-BR 5 14302676 14302676 single base substitution C T intron_variant SKCA-BR 5 14303127 14303127 single base substitution A G intron_variant SKCA-BR 5 14303317 14303317 single base substitution G A intron_variant SKCA-BR 5 14303459 14303459 single base substitution A G intron_variant SKCA-BR 5 14304482 14304482 single base substitution C T intron_variant SKCA-BR 5 14304600 14304600 single base substitution G A exon_variant SKCA-BR 5 14304600 14304600 single base substitution G A missense_variant A200T 598G>A SKCA-BR 5 14304600 14304600 single base substitution G A missense_variant A418T 1252G>A SKCA-BR 5 14304600 14304600 single base substitution G A missense_variant A467T 1399G>A SKCA-BR 5 14307272 14307272 single base substitution C T intron_variant SKCA-BR 5 14308828 14308828 insertion of <=200bp - GTCCA intron_variant SKCA-BR 5 14309882 14309882 single base substitution G A intron_variant SKCA-BR 5 14310956 14310956 single base substitution G A intron_variant SKCA-BR 5 14312644 14312644 single base substitution G A intron_variant SKCA-BR 5 14313423 14313423 single base substitution A C intron_variant SKCA-BR 5 14318563 14318564 deletion of <=200bp CA - intron_variant SKCA-BR 5 14319538 14319538 single base substitution T G intron_variant SKCA-BR 5 14319681 14319681 single base substitution A G intron_variant SKCA-BR 5 14323300 14323300 insertion of <=200bp - GT intron_variant SKCA-BR 5 14323372 14323372 single base substitution C T intron_variant SKCA-BR 5 14324995 14324995 single base substitution C T intron_variant SKCA-BR 5 14325148 14325148 single base substitution C T intron_variant SKCA-BR 5 14325984 14325984 single base substitution C G intron_variant SKCA-BR 5 14326125 14326125 single base substitution C G intron_variant SKCA-BR 5 14326960 14326960 single base substitution C G intron_variant SKCA-BR 5 14343198 14343200 deletion of <=200bp CAA - intron_variant SKCA-BR 5 14343458 14343458 single base substitution C T intron_variant SKCA-BR 5 14344882 14344882 single base substitution C T intron_variant SKCA-BR 5 14345401 14345401 single base substitution G A intron_variant SKCA-BR 5 14346274 14346274 single base substitution C T intron_variant SKCA-BR 5 14346377 14346377 single base substitution A G intron_variant SKCA-BR 5 14347227 14347227 single base substitution C A intron_variant SKCA-BR 5 14348189 14348189 single base substitution C T intron_variant SKCA-BR 5 14348868 14348868 single base substitution A G intron_variant SKCA-BR 5 14352058 14352058 single base substitution T G intron_variant SKCA-BR 5 14356696 14356696 single base substitution A C intron_variant SKCA-BR 5 14360160 14360160 single base substitution C T intron_variant SKCA-BR 5 14363110 14363110 insertion of <=200bp - CT intron_variant SKCA-BR 5 14365953 14365953 single base substitution T G intron_variant SKCA-BR 5 14368585 14368585 single base substitution C T intron_variant SKCA-BR 5 14374057 14374057 single base substitution C T intron_variant SKCA-BR 5 14379337 14379337 single base substitution C T intron_variant SKCA-BR 5 14380537 14380537 single base substitution A G intron_variant SKCA-BR 5 14380641 14380641 insertion of <=200bp - GA intron_variant SKCA-BR 5 14382964 14382964 insertion of <=200bp - CTG intron_variant SKCA-BR 5 14382964 14382964 insertion of <=200bp - CTG upstream_gene_variant SKCA-BR 5 14399112 14399112 single base substitution T C downstream_gene_variant SKCA-BR 5 14399112 14399112 single base substitution T C exon_variant SKCA-BR 5 14399112 14399112 single base substitution T C missense_variant L1249S 3746T>C SKCA-BR 5 14399112 14399112 single base substitution T C missense_variant L1467S 4400T>C SKCA-BR 5 14399112 14399112 single base substitution T C missense_variant L1516S 4547T>C SKCA-BR 5 14399112 14399112 single base substitution T C upstream_gene_variant SKCA-BR 5 14402617 14402617 single base substitution G A downstream_gene_variant SKCA-BR 5 14402617 14402617 single base substitution G A intron_variant SKCA-BR 5 14402617 14402617 single base substitution G A upstream_gene_variant SKCA-BR 5 14403323 14403323 single base substitution C T downstream_gene_variant SKCA-BR 5 14403323 14403323 single base substitution C T intron_variant SKCA-BR 5 14403323 14403323 single base substitution C T upstream_gene_variant SKCA-BR 5 14403825 14403825 single base substitution A T downstream_gene_variant SKCA-BR 5 14403825 14403825 single base substitution A T intron_variant SKCA-BR 5 14403825 14403825 single base substitution A T upstream_gene_variant SKCA-BR 5 14408946 14408946 single base substitution C T intron_variant SKCA-BR 5 14409487 14409487 insertion of <=200bp - CAA intron_variant SKCA-BR 5 14415383 14415383 single base substitution A C intron_variant SKCA-BR 5 14415383 14415383 single base substitution A C upstream_gene_variant SKCA-BR 5 14421712 14421712 insertion of <=200bp - GAA downstream_gene_variant SKCA-BR 5 14421712 14421712 insertion of <=200bp - GAA intron_variant SKCA-BR 5 14422860 14422860 single base substitution T C downstream_gene_variant SKCA-BR 5 14422860 14422860 single base substitution T C intron_variant SKCA-BR 5 14424296 14424296 single base substitution T G downstream_gene_variant SKCA-BR 5 14424296 14424296 single base substitution T G intron_variant SKCA-BR 5 14425875 14425875 single base substitution C T downstream_gene_variant SKCA-BR 5 14425875 14425875 single base substitution C T intron_variant SKCA-BR 5 14427446 14427446 single base substitution C T intron_variant SKCA-BR 5 14430325 14430325 insertion of <=200bp - CA intron_variant SKCA-BR 5 14430631 14430631 single base substitution C T intron_variant SKCA-BR 5 14437114 14437114 single base substitution G T intron_variant SKCA-BR 5 14437114 14437114 single base substitution G T upstream_gene_variant SKCA-BR 5 14437472 14437472 single base substitution C T intron_variant SKCA-BR 5 14437472 14437472 single base substitution C T upstream_gene_variant SKCA-BR 5 14437803 14437804 deletion of <=200bp CG - intron_variant SKCA-BR 5 14437803 14437804 deletion of <=200bp CG - upstream_gene_variant SKCA-BR 5 14437804 14437804 single base substitution G C intron_variant SKCA-BR 5 14437804 14437804 single base substitution G C upstream_gene_variant SKCA-BR 5 14438677 14438677 single base substitution C T intron_variant SKCA-BR 5 14438677 14438677 single base substitution C T upstream_gene_variant SKCA-BR 5 14441110 14441110 insertion of <=200bp - AGC exon_variant SKCA-BR 5 14441110 14441110 insertion of <=200bp - AGC intron_variant SKCA-BR 5 14446418 14446418 single base substitution C T intron_variant SKCA-BR 5 14451343 14451343 single base substitution C T intron_variant SKCA-BR 5 14456782 14456782 single base substitution C T intron_variant SKCA-BR 5 14462092 14462092 single base substitution C T intron_variant SKCA-BR 5 14462093 14462093 single base substitution C T intron_variant SKCA-BR 5 14463859 14463859 single base substitution C T intron_variant SKCA-BR 5 14464544 14464544 single base substitution C T intron_variant SKCA-BR 5 14465229 14465229 single base substitution T A intron_variant SKCA-BR 5 14467174 14467174 single base substitution T A downstream_gene_variant SKCA-BR 5 14467174 14467174 single base substitution T A intron_variant SKCA-BR 5 14467185 14467185 single base substitution C T downstream_gene_variant SKCA-BR 5 14467185 14467185 single base substitution C T intron_variant SKCA-BR 5 14467346 14467346 single base substitution C T downstream_gene_variant SKCA-BR 5 14467346 14467346 single base substitution C T intron_variant SKCA-BR 5 14468511 14468511 single base substitution G A downstream_gene_variant SKCA-BR 5 14468511 14468511 single base substitution G A intron_variant SKCA-BR 5 14473495 14473495 single base substitution T A intron_variant SKCA-BR 5 14473495 14473495 single base substitution T A upstream_gene_variant SKCA-BR 5 14475576 14475576 single base substitution G A intron_variant SKCA-BR 5 14475576 14475576 single base substitution G A upstream_gene_variant SKCA-BR 5 14478895 14478895 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 5 14478895 14478895 insertion of <=200bp - CA intron_variant SKCA-BR 5 14478895 14478895 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 5 14482178 14482178 single base substitution C T downstream_gene_variant SKCA-BR 5 14482178 14482178 single base substitution C T intron_variant SKCA-BR 5 14482178 14482178 single base substitution C T upstream_gene_variant SKCA-BR 5 14483192 14483192 single base substitution C G downstream_gene_variant SKCA-BR 5 14483192 14483192 single base substitution C G intron_variant SKCA-BR 5 14483858 14483858 single base substitution T C downstream_gene_variant SKCA-BR 5 14483858 14483858 single base substitution T C intron_variant SKCA-BR 5 14483858 14483858 single base substitution T C upstream_gene_variant SKCA-BR 5 14488389 14488389 single base substitution C T downstream_gene_variant SKCA-BR 5 14488389 14488389 single base substitution C T exon_variant SKCA-BR 5 14488389 14488389 single base substitution C T intron_variant SKCA-BR 5 14488389 14488389 single base substitution C T upstream_gene_variant SKCA-BR 5 14488392 14488392 single base substitution G C downstream_gene_variant SKCA-BR 5 14488392 14488392 single base substitution G C exon_variant SKCA-BR 5 14488392 14488392 single base substitution G C intron_variant SKCA-BR 5 14488392 14488392 single base substitution G C upstream_gene_variant SKCA-BR 5 14488396 14488396 single base substitution T C downstream_gene_variant SKCA-BR 5 14488396 14488396 single base substitution T C exon_variant SKCA-BR 5 14488396 14488396 single base substitution T C intron_variant SKCA-BR 5 14488396 14488396 single base substitution T C upstream_gene_variant SKCA-BR 5 14488400 14488400 single base substitution G C downstream_gene_variant SKCA-BR 5 14488400 14488400 single base substitution G C exon_variant SKCA-BR 5 14488400 14488400 single base substitution G C intron_variant SKCA-BR 5 14488400 14488400 single base substitution G C upstream_gene_variant SKCA-BR 5 14489091 14489091 single base substitution C T downstream_gene_variant SKCA-BR 5 14489091 14489091 single base substitution C T exon_variant SKCA-BR 5 14489091 14489091 single base substitution C T intron_variant SKCA-BR 5 14489091 14489091 single base substitution C T synonymous_variant F14F 42C>T SKCA-BR 5 14489091 14489091 single base substitution C T upstream_gene_variant SKCA-BR 5 14490205 14490205 single base substitution C T downstream_gene_variant SKCA-BR 5 14490205 14490205 single base substitution C T intron_variant SKCA-BR 5 14490205 14490205 single base substitution C T upstream_gene_variant SKCA-BR 5 14490525 14490525 single base substitution C T downstream_gene_variant SKCA-BR 5 14490525 14490525 single base substitution C T intron_variant SKCA-BR 5 14490525 14490525 single base substitution C T upstream_gene_variant SKCA-BR 5 14494013 14494013 single base substitution A C downstream_gene_variant SKCA-BR 5 14494013 14494013 single base substitution A C intron_variant SKCA-BR 5 14494013 14494013 single base substitution A C upstream_gene_variant SKCA-BR 5 14494757 14494757 single base substitution C T intron_variant SKCA-BR 5 14494757 14494757 single base substitution C T upstream_gene_variant SKCA-BR 5 14495756 14495756 single base substitution C T intron_variant SKCA-BR 5 14495756 14495756 single base substitution C T upstream_gene_variant SKCA-BR 5 14505416 14505416 single base substitution C T downstream_gene_variant SKCA-BR 5 14505416 14505416 single base substitution C T intron_variant SKCA-BR 5 14505932 14505932 single base substitution C T downstream_gene_variant SKCA-BR 5 14505932 14505932 single base substitution C T intron_variant SKCA-BR 5 14511146 14511146 single base substitution A G downstream_gene_variant SKCA-BR 5 14511146 14511146 single base substitution A G intron_variant SKCA-BR 5 14511445 14511445 single base substitution G A downstream_gene_variant SKCA-BR 5 14511445 14511445 single base substitution G A intron_variant SKCA-BR 5 14511768 14511808 deletion of <=200bp CTCTCTCTCTCTCTCTCTCTATATATATATATATATATATA - downstream_gene_variant SKCA-BR 5 14511768 14511808 deletion of <=200bp CTCTCTCTCTCTCTCTCTCTATATATATATATATATATATA - intron_variant SKCA-BR 5 14511774 14511814 deletion of <=200bp CTCTCTCTCTCTCTATATATATATATATATATATATATATA - downstream_gene_variant SKCA-BR 5 14511774 14511814 deletion of <=200bp CTCTCTCTCTCTCTATATATATATATATATATATATATATA - intron_variant SKCA-BR 5 14511776 14511814 deletion of <=200bp CTCTCTCTCTCTATATATATATATATATATATATATATA - downstream_gene_variant SKCA-BR 5 14511776 14511814 deletion of <=200bp CTCTCTCTCTCTATATATATATATATATATATATATATA - intron_variant SKCA-BR 5 14511776 14511816 deletion of <=200bp CTCTCTCTCTCTATATATATATATATATATATATATATATA - downstream_gene_variant SKCA-BR 5 14511776 14511816 deletion of <=200bp CTCTCTCTCTCTATATATATATATATATATATATATATATA - intron_variant SKCA-BR 5 14511784 14511800 deletion of <=200bp CTCTATATATATATATA - downstream_gene_variant SKCA-BR 5 14511784 14511800 deletion of <=200bp CTCTATATATATATATA - intron_variant SKCA-BR 5 14511788 14511788 single base substitution A C downstream_gene_variant SKCA-BR 5 14511788 14511788 single base substitution A C intron_variant SKCA-BR 5 14511838 14511838 single base substitution A T downstream_gene_variant SKCA-BR 5 14511838 14511838 single base substitution A T intron_variant SKCA-BR 5 14513419 14513419 single base substitution C T downstream_gene_variant SKCA-BR 5 14513419 14513419 single base substitution C T intron_variant SKCA-BR 5 14515328 14515328 single base substitution C T intron_variant SKCA-BR 5 14517080 14517080 single base substitution C T intron_variant SKCA-BR 5 14522423 14522423 single base substitution C T intron_variant SKCA-BR 5 14522508 14522508 insertion of <=200bp - GT intron_variant SKCA-BR 5 14522969 14522969 single base substitution C T intron_variant SKCA-BR 5 14523029 14523029 single base substitution C T intron_variant SKCA-BR 5 14523651 14523651 single base substitution A G intron_variant SKCA-BR 5 14523656 14523656 single base substitution T G intron_variant SKCA-BR 5 14523887 14523887 single base substitution C T intron_variant SKCA-BR 5 14524178 14524178 single base substitution G A intron_variant SKCA-BR 5 14526050 14526050 single base substitution A C intron_variant SKCA-BR 5 14527628 14527628 single base substitution G C intron_variant SKCA-BR 5 14527667 14527667 single base substitution G A intron_variant SKCA-BR 5 14527906 14527906 insertion of <=200bp - GT intron_variant SKCA-BR 5 14528703 14528703 single base substitution A C intron_variant SKCA-BR 5 14529790 14529790 single base substitution C T intron_variant SKCA-BR 5 14531236 14531236 single base substitution T C intron_variant SKCA-BR 5 14532672 14532672 single base substitution C T downstream_gene_variant SKCA-BR 5 14532831 14532831 single base substitution G A downstream_gene_variant SKCA-BR 5 14533117 14533117 single base substitution C T downstream_gene_variant SKCA-BR 5 14533928 14533928 single base substitution G A downstream_gene_variant SKCA-BR 5 14534120 14534120 single base substitution C T downstream_gene_variant SKCA-BR 5 14534468 14534468 single base substitution C T downstream_gene_variant SKCA-BR 5 14535920 14535920 single base substitution G A downstream_gene_variant SKCA-BR 5 14536650 14536650 single base substitution C T downstream_gene_variant SKCM-US 5 14271002 14271002 single base substitution C T exon_variant SKCM-US 5 14271002 14271002 single base substitution C T missense_variant L27F 79C>T SKCM-US 5 14271002 14271002 single base substitution C T missense_variant L76F 226C>T SKCM-US 5 14280515 14280515 single base substitution G A exon_variant SKCM-US 5 14280515 14280515 single base substitution G A missense_variant R106K 317G>A SKCM-US 5 14280515 14280515 single base substitution G A missense_variant R57K 170G>A SKCM-US 5 14280524 14280524 single base substitution C T exon_variant SKCM-US 5 14280524 14280524 single base substitution C T missense_variant S109F 326C>T SKCM-US 5 14280524 14280524 single base substitution C T missense_variant S60F 179C>T SKCM-US 5 14291101 14291101 single base substitution G A downstream_gene_variant SKCM-US 5 14291101 14291101 single base substitution G A exon_variant SKCM-US 5 14291101 14291101 single base substitution G A missense_variant E224K 670G>A SKCM-US 5 14291101 14291101 single base substitution G A missense_variant E273K 817G>A SKCM-US 5 14291101 14291101 single base substitution G A missense_variant E6K 16G>A SKCM-US 5 14291101 14291101 single base substitution G A upstream_gene_variant SKCM-US 5 14304643 14304643 single base substitution A G exon_variant SKCM-US 5 14304643 14304643 single base substitution A G missense_variant E214G 641A>G SKCM-US 5 14304643 14304643 single base substitution A G missense_variant E432G 1295A>G SKCM-US 5 14304643 14304643 single base substitution A G missense_variant E481G 1442A>G SKCM-US 5 14304662 14304662 single base substitution C T exon_variant SKCM-US 5 14304662 14304662 single base substitution C T synonymous_variant H220H 660C>T SKCM-US 5 14304662 14304662 single base substitution C T synonymous_variant H438H 1314C>T SKCM-US 5 14304662 14304662 single base substitution C T synonymous_variant H487H 1461C>T SKCM-US 5 14336794 14336794 single base substitution C T exon_variant SKCM-US 5 14336794 14336794 single base substitution C T synonymous_variant I401I 1203C>T SKCM-US 5 14336794 14336794 single base substitution C T synonymous_variant I619I 1857C>T SKCM-US 5 14336794 14336794 single base substitution C T synonymous_variant I668I 2004C>T SKCM-US 5 14363864 14363864 single base substitution G A exon_variant SKCM-US 5 14363864 14363864 single base substitution G A stop_gained W538* 1614G>A SKCM-US 5 14363864 14363864 single base substitution G A stop_gained W756* 2268G>A SKCM-US 5 14363864 14363864 single base substitution G A stop_gained W805* 2415G>A SKCM-US 5 14364806 14364806 single base substitution C T exon_variant SKCM-US 5 14364806 14364806 single base substitution C T stop_gained Q612* 1834C>T SKCM-US 5 14364806 14364806 single base substitution C T stop_gained Q830* 2488C>T SKCM-US 5 14364806 14364806 single base substitution C T stop_gained Q879* 2635C>T SKCM-US 5 14367010 14367010 single base substitution C T exon_variant SKCM-US 5 14367010 14367010 single base substitution C T synonymous_variant A665A 1995C>T SKCM-US 5 14367010 14367010 single base substitution C T synonymous_variant A883A 2649C>T SKCM-US 5 14367010 14367010 single base substitution C T synonymous_variant A932A 2796C>T SKCM-US 5 14368958 14368958 single base substitution C T exon_variant SKCM-US 5 14368958 14368958 single base substitution C T missense_variant R1006C 3016C>T SKCM-US 5 14368958 14368958 single base substitution C T missense_variant R739C 2215C>T SKCM-US 5 14368958 14368958 single base substitution C T missense_variant R957C 2869C>T SKCM-US 5 14369482 14369482 single base substitution G A splice_acceptor_variant SKCM-US 5 14369569 14369569 single base substitution T A exon_variant SKCM-US 5 14369569 14369569 single base substitution T A synonymous_variant S1002S 3006T>A SKCM-US 5 14369569 14369569 single base substitution T A synonymous_variant S1051S 3153T>A SKCM-US 5 14369569 14369569 single base substitution T A synonymous_variant S784S 2352T>A SKCM-US 5 14369570 14369570 single base substitution G A exon_variant SKCM-US 5 14369570 14369570 single base substitution G A missense_variant E1003K 3007G>A SKCM-US 5 14369570 14369570 single base substitution G A missense_variant E1052K 3154G>A SKCM-US 5 14369570 14369570 single base substitution G A missense_variant E785K 2353G>A SKCM-US 5 14387673 14387673 single base substitution C T exon_variant SKCM-US 5 14387673 14387673 single base substitution C T synonymous_variant L1184L 3550C>T SKCM-US 5 14387673 14387673 single base substitution C T synonymous_variant L1233L 3697C>T SKCM-US 5 14387673 14387673 single base substitution C T synonymous_variant L966L 2896C>T SKCM-US 5 14387673 14387673 single base substitution C T upstream_gene_variant SKCM-US 5 14387901 14387901 single base substitution C A exon_variant SKCM-US 5 14387901 14387901 single base substitution C A synonymous_variant R1009R 3025C>A SKCM-US 5 14387901 14387901 single base substitution C A synonymous_variant R1227R 3679C>A SKCM-US 5 14387901 14387901 single base substitution C A synonymous_variant R1276R 3826C>A SKCM-US 5 14387901 14387901 single base substitution C A upstream_gene_variant SKCM-US 5 14394211 14394211 single base substitution G A exon_variant SKCM-US 5 14394211 14394211 single base substitution G A missense_variant R1161Q 3482G>A SKCM-US 5 14394211 14394211 single base substitution G A missense_variant R1379Q 4136G>A SKCM-US 5 14394211 14394211 single base substitution G A missense_variant R1428Q 4283G>A SKCM-US 5 14394211 14394211 single base substitution G A upstream_gene_variant SKCM-US 5 14405957 14405957 single base substitution G A missense_variant A1306T 3916G>A SKCM-US 5 14405957 14405957 single base substitution G A missense_variant A1573T 4717G>A SKCM-US 5 14405957 14405957 single base substitution G A splice_region_variant SKCM-US 5 14405957 14405957 single base substitution G A upstream_gene_variant SKCM-US 5 14462919 14462919 single base substitution G A exon_variant SKCM-US 5 14462919 14462919 single base substitution G A missense_variant G1584E 4751G>A SKCM-US 5 14462919 14462919 single base substitution G A missense_variant G1851E 5552G>A SKCM-US 5 14462946 14462946 single base substitution G A exon_variant SKCM-US 5 14462946 14462946 single base substitution G A missense_variant G1593D 4778G>A SKCM-US 5 14462946 14462946 single base substitution G A missense_variant G1860D 5579G>A SKCM-US 5 14465696 14465696 single base substitution C T exon_variant SKCM-US 5 14465696 14465696 single base substitution C T missense_variant P1637S 4909C>T SKCM-US 5 14465696 14465696 single base substitution C T missense_variant P1904S 5710C>T SKCM-US 5 14471535 14471535 single base substitution G A downstream_gene_variant SKCM-US 5 14471535 14471535 single base substitution G A exon_variant SKCM-US 5 14471535 14471535 single base substitution G A missense_variant E1691K 5071G>A SKCM-US 5 14471535 14471535 single base substitution G A missense_variant E1958K 5872G>A SKCM-US 5 14471535 14471535 single base substitution G A upstream_gene_variant SKCM-US 5 14472745 14472745 single base substitution G A exon_variant SKCM-US 5 14472745 14472745 single base substitution G A missense_variant R1719Q 5156G>A SKCM-US 5 14472745 14472745 single base substitution G A missense_variant R1986Q 5957G>A SKCM-US 5 14472745 14472745 single base substitution G A upstream_gene_variant SKCM-US 5 14474120 14474120 single base substitution G T exon_variant SKCM-US 5 14474120 14474120 single base substitution G T missense_variant M1732I 5196G>T SKCM-US 5 14474120 14474120 single base substitution G T missense_variant M1999I 5997G>T SKCM-US 5 14474120 14474120 single base substitution G T upstream_gene_variant SKCM-US 5 14477057 14477057 single base substitution C T exon_variant SKCM-US 5 14477057 14477057 single base substitution C T synonymous_variant S1779S 5337C>T SKCM-US 5 14477057 14477057 single base substitution C T synonymous_variant S2046S 6138C>T SKCM-US 5 14477057 14477057 single base substitution C T upstream_gene_variant SKCM-US 5 14482699 14482699 single base substitution C T downstream_gene_variant SKCM-US 5 14482699 14482699 single base substitution C T exon_variant SKCM-US 5 14482699 14482699 single base substitution C T synonymous_variant I1891I 5673C>T SKCM-US 5 14482699 14482699 single base substitution C T synonymous_variant I2158I 6474C>T SKCM-US 5 14482769 14482769 single base substitution C T downstream_gene_variant SKCM-US 5 14482769 14482769 single base substitution C T exon_variant SKCM-US 5 14482769 14482769 single base substitution C T missense_variant R1915C 5743C>T SKCM-US 5 14482769 14482769 single base substitution C T missense_variant R2182C 6544C>T SKCM-US 5 14482854 14482854 single base substitution C T downstream_gene_variant SKCM-US 5 14482854 14482854 single base substitution C T exon_variant SKCM-US 5 14482854 14482854 single base substitution C T missense_variant P1943L 5828C>T SKCM-US 5 14482854 14482854 single base substitution C T missense_variant P2210L 6629C>T SKCM-US 5 14487582 14487582 single base substitution C T exon_variant SKCM-US 5 14487582 14487582 single base substitution C T missense_variant S2015L 6044C>T SKCM-US 5 14487582 14487582 single base substitution C T missense_variant S2282L 6845C>T SKCM-US 5 14487582 14487582 single base substitution C T upstream_gene_variant SKCM-US 5 14487781 14487781 deletion of <=200bp C - exon_variant SKCM-US 5 14487781 14487781 deletion of <=200bp C - frameshift_variant H2081 SKCM-US 5 14487781 14487781 deletion of <=200bp C - frameshift_variant H2348 SKCM-US 5 14487781 14487781 deletion of <=200bp C - upstream_gene_variant SKCM-US 5 14488204 14488204 single base substitution C T downstream_gene_variant SKCM-US 5 14488204 14488204 single base substitution C T exon_variant SKCM-US 5 14488204 14488204 single base substitution C T intron_variant SKCM-US 5 14488204 14488204 single base substitution C T synonymous_variant I2222I 6666C>T SKCM-US 5 14488204 14488204 single base substitution C T synonymous_variant I2489I 7467C>T SKCM-US 5 14488204 14488204 single base substitution C T upstream_gene_variant SKCM-US 5 14488207 14488207 single base substitution C T downstream_gene_variant SKCM-US 5 14488207 14488207 single base substitution C T exon_variant SKCM-US 5 14488207 14488207 single base substitution C T intron_variant SKCM-US 5 14488207 14488207 single base substitution C T synonymous_variant P2223P 6669C>T SKCM-US 5 14488207 14488207 single base substitution C T synonymous_variant P2490P 7470C>T SKCM-US 5 14488207 14488207 single base substitution C T upstream_gene_variant SKCM-US 5 14488216 14488216 single base substitution C T downstream_gene_variant SKCM-US 5 14488216 14488216 single base substitution C T exon_variant SKCM-US 5 14488216 14488216 single base substitution C T intron_variant SKCM-US 5 14488216 14488216 single base substitution C T synonymous_variant P2226P 6678C>T SKCM-US 5 14488216 14488216 single base substitution C T synonymous_variant P2493P 7479C>T SKCM-US 5 14488216 14488216 single base substitution C T upstream_gene_variant SKCM-US 5 14488227 14488227 single base substitution C T downstream_gene_variant SKCM-US 5 14488227 14488227 single base substitution C T exon_variant SKCM-US 5 14488227 14488227 single base substitution C T intron_variant SKCM-US 5 14488227 14488227 single base substitution C T missense_variant P2230L 6689C>T SKCM-US 5 14488227 14488227 single base substitution C T missense_variant P2497L 7490C>T SKCM-US 5 14488227 14488227 single base substitution C T upstream_gene_variant SKCM-US 5 14488280 14488280 single base substitution C T downstream_gene_variant SKCM-US 5 14488280 14488280 single base substitution C T exon_variant SKCM-US 5 14488280 14488280 single base substitution C T intron_variant SKCM-US 5 14488280 14488280 single base substitution C T missense_variant R2248C 6742C>T SKCM-US 5 14488280 14488280 single base substitution C T missense_variant R2515C 7543C>T SKCM-US 5 14488280 14488280 single base substitution C T upstream_gene_variant SKCM-US 5 14488282 14488282 single base substitution C T downstream_gene_variant SKCM-US 5 14488282 14488282 single base substitution C T exon_variant SKCM-US 5 14488282 14488282 single base substitution C T intron_variant SKCM-US 5 14488282 14488282 single base substitution C T synonymous_variant R2248R 6744C>T SKCM-US 5 14488282 14488282 single base substitution C T synonymous_variant R2515R 7545C>T SKCM-US 5 14488282 14488282 single base substitution C T upstream_gene_variant SKCM-US 5 14488291 14488291 single base substitution C T downstream_gene_variant SKCM-US 5 14488291 14488291 single base substitution C T exon_variant SKCM-US 5 14488291 14488291 single base substitution C T intron_variant SKCM-US 5 14488291 14488291 single base substitution C T synonymous_variant A2251A 6753C>T SKCM-US 5 14488291 14488291 single base substitution C T synonymous_variant A2518A 7554C>T SKCM-US 5 14488291 14488291 single base substitution C T upstream_gene_variant SKCM-US 5 14492705 14492705 single base substitution C T 3_prime_UTR_variant SKCM-US 5 14492705 14492705 single base substitution C T downstream_gene_variant SKCM-US 5 14492705 14492705 single base substitution C T exon_variant SKCM-US 5 14492705 14492705 single base substitution C T synonymous_variant S2287S 6861C>T SKCM-US 5 14492705 14492705 single base substitution C T synonymous_variant S2378S 7134C>T SKCM-US 5 14492705 14492705 single base substitution C T synonymous_variant S2554S 7662C>T SKCM-US 5 14492705 14492705 single base substitution C T synonymous_variant S53S 159C>T SKCM-US 5 14497966 14497966 single base substitution C T 3_prime_UTR_variant SKCM-US 5 14497966 14497966 single base substitution C T downstream_gene_variant SKCM-US 5 14497966 14497966 single base substitution C T missense_variant P176L 527C>T SKCM-US 5 14497966 14497966 single base substitution C T missense_variant P2410L 7229C>T SKCM-US 5 14497966 14497966 single base substitution C T missense_variant P2501L 7502C>T SKCM-US 5 14497966 14497966 single base substitution C T missense_variant P2677L 8030C>T SKCM-US 5 14497966 14497966 single base substitution C T upstream_gene_variant SKCM-US 5 14498703 14498703 single base substitution C T 3_prime_UTR_variant SKCM-US 5 14498703 14498703 single base substitution C T downstream_gene_variant SKCM-US 5 14498703 14498703 single base substitution C T exon_variant SKCM-US 5 14498703 14498703 single base substitution C T synonymous_variant V2495V 7485C>T SKCM-US 5 14498703 14498703 single base substitution C T synonymous_variant V2586V 7758C>T SKCM-US 5 14498703 14498703 single base substitution C T synonymous_variant V261V 783C>T SKCM-US 5 14498703 14498703 single base substitution C T synonymous_variant V2762V 8286C>T SKCM-US 5 14507328 14507328 single base substitution C T 3_prime_UTR_variant SKCM-US 5 14507328 14507328 single base substitution C T downstream_gene_variant SKCM-US 5 14507328 14507328 single base substitution C T intron_variant SKCM-US 5 14507328 14507328 single base substitution C T missense_variant R2728W 8182C>T SKCM-US 5 14507328 14507328 single base substitution C T missense_variant R2904W 8710C>T SKCM-US 5 14507328 14507328 single base substitution C T missense_variant R403W 1207C>T SKCM-US 5 14508057 14508057 single base substitution T G 3_prime_UTR_variant SKCM-US 5 14508057 14508057 single base substitution T G downstream_gene_variant SKCM-US 5 14508057 14508057 single base substitution T G exon_variant SKCM-US 5 14508057 14508057 single base substitution T G intron_variant SKCM-US 5 14508057 14508057 single base substitution T G synonymous_variant A2764A 8292T>G SKCM-US 5 14508057 14508057 single base substitution T G synonymous_variant A2940A 8820T>G SKCM-US 5 14508057 14508057 single base substitution T G synonymous_variant A439A 1317T>G SKCM-US 5 14508315 14508315 single base substitution C T 3_prime_UTR_variant SKCM-US 5 14508315 14508315 single base substitution C T downstream_gene_variant SKCM-US 5 14508315 14508315 single base substitution C T exon_variant SKCM-US 5 14508315 14508315 single base substitution C T intron_variant SKCM-US 5 14508315 14508315 single base substitution C T synonymous_variant F2850F 8550C>T SKCM-US 5 14508315 14508315 single base substitution C T synonymous_variant F3026F 9078C>T SKCM-US 5 14508315 14508315 single base substitution C T synonymous_variant F525F 1575C>T SKCM-US 5 14508475 14508475 single base substitution C T 3_prime_UTR_variant SKCM-US 5 14508475 14508475 single base substitution C T downstream_gene_variant SKCM-US 5 14508475 14508475 single base substitution C T intron_variant SKCM-US 5 14508475 14508475 single base substitution C T stop_gained R2904* 8710C>T SKCM-US 5 14508475 14508475 single base substitution C T stop_gained R3080* 9238C>T SKCM-US 5 14508475 14508475 single base substitution C T stop_gained R579* 1735C>T STAD-US 5 14291024 14291024 single base substitution C T downstream_gene_variant STAD-US 5 14291024 14291024 single base substitution C T exon_variant STAD-US 5 14291024 14291024 single base substitution C T missense_variant P198L 593C>T STAD-US 5 14291024 14291024 single base substitution C T missense_variant P247L 740C>T STAD-US 5 14291024 14291024 single base substitution C T upstream_gene_variant STAD-US 5 14291165 14291165 single base substitution A T downstream_gene_variant STAD-US 5 14291165 14291165 single base substitution A T exon_variant STAD-US 5 14291165 14291165 single base substitution A T missense_variant K245I 734A>T STAD-US 5 14291165 14291165 single base substitution A T missense_variant K27I 80A>T STAD-US 5 14291165 14291165 single base substitution A T missense_variant K294I 881A>T STAD-US 5 14291165 14291165 single base substitution A T upstream_gene_variant STAD-US 5 14291209 14291209 single base substitution C T downstream_gene_variant STAD-US 5 14291209 14291209 single base substitution C T exon_variant STAD-US 5 14291209 14291209 single base substitution C T missense_variant P260S 778C>T STAD-US 5 14291209 14291209 single base substitution C T missense_variant P309S 925C>T STAD-US 5 14291209 14291209 single base substitution C T missense_variant P42S 124C>T STAD-US 5 14291209 14291209 single base substitution C T upstream_gene_variant STAD-US 5 14291233 14291233 single base substitution C T downstream_gene_variant STAD-US 5 14291233 14291233 single base substitution C T exon_variant STAD-US 5 14291233 14291233 single base substitution C T missense_variant R268W 802C>T STAD-US 5 14291233 14291233 single base substitution C T missense_variant R317W 949C>T STAD-US 5 14291233 14291233 single base substitution C T missense_variant R50W 148C>T STAD-US 5 14291233 14291233 single base substitution C T upstream_gene_variant STAD-US 5 14297342 14297342 single base substitution G A exon_variant STAD-US 5 14297342 14297342 single base substitution G A missense_variant M179I 537G>A STAD-US 5 14297342 14297342 single base substitution G A missense_variant M397I 1191G>A STAD-US 5 14297342 14297342 single base substitution G A missense_variant M446I 1338G>A STAD-US 5 14359556 14359556 single base substitution G A exon_variant STAD-US 5 14359556 14359556 single base substitution G A synonymous_variant S502S 1506G>A STAD-US 5 14359556 14359556 single base substitution G A synonymous_variant S720S 2160G>A STAD-US 5 14359556 14359556 single base substitution G A synonymous_variant S769S 2307G>A STAD-US 5 14363855 14363855 single base substitution C T exon_variant STAD-US 5 14363855 14363855 single base substitution C T synonymous_variant L535L 1605C>T STAD-US 5 14363855 14363855 single base substitution C T synonymous_variant L753L 2259C>T STAD-US 5 14363855 14363855 single base substitution C T synonymous_variant L802L 2406C>T STAD-US 5 14363893 14363893 single base substitution A G exon_variant STAD-US 5 14363893 14363893 single base substitution A G missense_variant D548G 1643A>G STAD-US 5 14363893 14363893 single base substitution A G missense_variant D766G 2297A>G STAD-US 5 14363893 14363893 single base substitution A G missense_variant D815G 2444A>G STAD-US 5 14364895 14364895 single base substitution G A exon_variant STAD-US 5 14364895 14364895 single base substitution G A synonymous_variant Q641Q 1923G>A STAD-US 5 14364895 14364895 single base substitution G A synonymous_variant Q859Q 2577G>A STAD-US 5 14364895 14364895 single base substitution G A synonymous_variant Q908Q 2724G>A STAD-US 5 14367023 14367023 single base substitution G A exon_variant STAD-US 5 14367023 14367023 single base substitution G A missense_variant A670T 2008G>A STAD-US 5 14367023 14367023 single base substitution G A missense_variant A888T 2662G>A STAD-US 5 14367023 14367023 single base substitution G A missense_variant A937T 2809G>A STAD-US 5 14368883 14368883 single base substitution G A exon_variant STAD-US 5 14368883 14368883 single base substitution G A missense_variant D714N 2140G>A STAD-US 5 14368883 14368883 single base substitution G A missense_variant D932N 2794G>A STAD-US 5 14368883 14368883 single base substitution G A missense_variant D981N 2941G>A STAD-US 5 14369554 14369554 single base substitution G T exon_variant STAD-US 5 14369554 14369554 single base substitution G T missense_variant K1046N 3138G>T STAD-US 5 14369554 14369554 single base substitution G T missense_variant K779N 2337G>T STAD-US 5 14369554 14369554 single base substitution G T missense_variant K997N 2991G>T STAD-US 5 14378154 14378154 single base substitution G T exon_variant STAD-US 5 14378154 14378154 single base substitution G T missense_variant R1073M 3218G>T STAD-US 5 14378154 14378154 single base substitution G T missense_variant R1122M 3365G>T STAD-US 5 14378154 14378154 single base substitution G T missense_variant R855M 2564G>T STAD-US 5 14387627 14387627 deletion of <=200bp A - exon_variant STAD-US 5 14387627 14387627 deletion of <=200bp A - frameshift_variant I1168 STAD-US 5 14387627 14387627 deletion of <=200bp A - frameshift_variant I1217 STAD-US 5 14387627 14387627 deletion of <=200bp A - frameshift_variant I950 STAD-US 5 14387627 14387627 deletion of <=200bp A - upstream_gene_variant STAD-US 5 14387669 14387669 single base substitution C A exon_variant STAD-US 5 14387669 14387669 single base substitution C A missense_variant F1182L 3546C>A STAD-US 5 14387669 14387669 single base substitution C A missense_variant F1231L 3693C>A STAD-US 5 14387669 14387669 single base substitution C A missense_variant F964L 2892C>A STAD-US 5 14387669 14387669 single base substitution C A upstream_gene_variant STAD-US 5 14387858 14387858 single base substitution A T exon_variant STAD-US 5 14387858 14387858 single base substitution A T synonymous_variant L1212L 3636A>T STAD-US 5 14387858 14387858 single base substitution A T synonymous_variant L1261L 3783A>T STAD-US 5 14387858 14387858 single base substitution A T synonymous_variant L994L 2982A>T STAD-US 5 14387858 14387858 single base substitution A T upstream_gene_variant STAD-US 5 14389425 14389425 single base substitution G A downstream_gene_variant STAD-US 5 14389425 14389425 single base substitution G A exon_variant STAD-US 5 14389425 14389425 single base substitution G A missense_variant V1059M 3175G>A STAD-US 5 14389425 14389425 single base substitution G A missense_variant V1277M 3829G>A STAD-US 5 14389425 14389425 single base substitution G A missense_variant V1326M 3976G>A STAD-US 5 14389501 14389503 deletion of <=200bp ATA - downstream_gene_variant STAD-US 5 14389501 14389503 deletion of <=200bp ATA - exon_variant STAD-US 5 14389501 14389503 deletion of <=200bp ATA - inframe_deletion HN1084H STAD-US 5 14389501 14389503 deletion of <=200bp ATA - inframe_deletion HN1302H STAD-US 5 14389501 14389503 deletion of <=200bp ATA - inframe_deletion HN1351H STAD-US 5 14399145 14399145 single base substitution G T downstream_gene_variant STAD-US 5 14399145 14399145 single base substitution G T exon_variant STAD-US 5 14399145 14399145 single base substitution G T missense_variant G1260V 3779G>T STAD-US 5 14399145 14399145 single base substitution G T missense_variant G1478V 4433G>T STAD-US 5 14399145 14399145 single base substitution G T missense_variant G1527V 4580G>T STAD-US 5 14401091 14401091 single base substitution C T downstream_gene_variant STAD-US 5 14401091 14401091 single base substitution C T exon_variant STAD-US 5 14401091 14401091 single base substitution C T missense_variant T1278I 3833C>T STAD-US 5 14401091 14401091 single base substitution C T missense_variant T1545I 4634C>T STAD-US 5 14406052 14406052 single base substitution C G exon_variant STAD-US 5 14406052 14406052 single base substitution C G synonymous_variant P1337P 4011C>G STAD-US 5 14406052 14406052 single base substitution C G synonymous_variant P1604P 4812C>G STAD-US 5 14406052 14406052 single base substitution C G upstream_gene_variant STAD-US 5 14419959 14419959 single base substitution C T exon_variant STAD-US 5 14419959 14419959 single base substitution C T stop_gained R1411* 4231C>T STAD-US 5 14419959 14419959 single base substitution C T stop_gained R1678* 5032C>T STAD-US 5 14461390 14461390 single base substitution G A exon_variant STAD-US 5 14461390 14461390 single base substitution G A synonymous_variant A1555A 4665G>A STAD-US 5 14461390 14461390 single base substitution G A synonymous_variant A1822A 5466G>A STAD-US 5 14462881 14462881 single base substitution C T exon_variant STAD-US 5 14462881 14462881 single base substitution C T synonymous_variant G1571G 4713C>T STAD-US 5 14462881 14462881 single base substitution C T synonymous_variant G1838G 5514C>T STAD-US 5 14462945 14462945 single base substitution G T exon_variant STAD-US 5 14462945 14462945 single base substitution G T missense_variant G1593C 4777G>T STAD-US 5 14462945 14462945 single base substitution G T missense_variant G1860C 5578G>T STAD-US 5 14462953 14462953 deletion of <=200bp G - exon_variant STAD-US 5 14462953 14462953 deletion of <=200bp G - frameshift_variant E1595 STAD-US 5 14462953 14462953 deletion of <=200bp G - frameshift_variant E1862 STAD-US 5 14481681 14481681 single base substitution G T downstream_gene_variant STAD-US 5 14481681 14481681 single base substitution G T exon_variant STAD-US 5 14481681 14481681 single base substitution G T missense_variant R1873M 5618G>T STAD-US 5 14481681 14481681 single base substitution G T missense_variant R2140M 6419G>T STAD-US 5 14481681 14481681 single base substitution G T upstream_gene_variant STAD-US 5 14482694 14482694 deletion of <=200bp A - downstream_gene_variant STAD-US 5 14482694 14482694 deletion of <=200bp A - exon_variant STAD-US 5 14482694 14482694 deletion of <=200bp A - frameshift_variant K1890 STAD-US 5 14482694 14482694 deletion of <=200bp A - frameshift_variant K2157 STAD-US 5 14485239 14485239 single base substitution C T downstream_gene_variant STAD-US 5 14485239 14485239 single base substitution C T exon_variant STAD-US 5 14485239 14485239 single base substitution C T missense_variant S1973L 5918C>T STAD-US 5 14485239 14485239 single base substitution C T missense_variant S2240L 6719C>T STAD-US 5 14485239 14485239 single base substitution C T upstream_gene_variant STAD-US 5 14485245 14485245 single base substitution C T downstream_gene_variant STAD-US 5 14485245 14485245 single base substitution C T exon_variant STAD-US 5 14485245 14485245 single base substitution C T missense_variant T1975M 5924C>T STAD-US 5 14485245 14485245 single base substitution C T missense_variant T2242M 6725C>T STAD-US 5 14485245 14485245 single base substitution C T upstream_gene_variant STAD-US 5 14485253 14485253 single base substitution G A downstream_gene_variant STAD-US 5 14485253 14485253 single base substitution G A exon_variant STAD-US 5 14485253 14485253 single base substitution G A missense_variant V1978M 5932G>A STAD-US 5 14485253 14485253 single base substitution G A missense_variant V2245M 6733G>A STAD-US 5 14485253 14485253 single base substitution G A upstream_gene_variant STAD-US 5 14485290 14485290 single base substitution G T downstream_gene_variant STAD-US 5 14485290 14485290 single base substitution G T exon_variant STAD-US 5 14485290 14485290 single base substitution G T missense_variant S1990I 5969G>T STAD-US 5 14485290 14485290 single base substitution G T missense_variant S2257I 6770G>T STAD-US 5 14485290 14485290 single base substitution G T upstream_gene_variant STAD-US 5 14487781 14487781 insertion of <=200bp - C exon_variant STAD-US 5 14487781 14487781 insertion of <=200bp - C frameshift_variant H2081H? STAD-US 5 14487781 14487781 insertion of <=200bp - C frameshift_variant H2348H? STAD-US 5 14487781 14487781 insertion of <=200bp - C upstream_gene_variant STAD-US 5 14488155 14488155 insertion of <=200bp - CC downstream_gene_variant STAD-US 5 14488155 14488155 insertion of <=200bp - CC exon_variant STAD-US 5 14488155 14488155 insertion of <=200bp - CC frameshift_variant F2206S? STAD-US 5 14488155 14488155 insertion of <=200bp - CC frameshift_variant F2473S? STAD-US 5 14488155 14488155 insertion of <=200bp - CC intron_variant STAD-US 5 14488155 14488155 insertion of <=200bp - CC upstream_gene_variant STAD-US 5 14488155 14488155 insertion of <=200bp - C downstream_gene_variant STAD-US 5 14488155 14488155 insertion of <=200bp - C exon_variant STAD-US 5 14488155 14488155 insertion of <=200bp - C frameshift_variant F2206S? STAD-US 5 14488155 14488155 insertion of <=200bp - C frameshift_variant F2473S? STAD-US 5 14488155 14488155 insertion of <=200bp - C intron_variant STAD-US 5 14488155 14488155 insertion of <=200bp - C upstream_gene_variant STAD-US 5 14488156 14488156 deletion of <=200bp C - downstream_gene_variant STAD-US 5 14488156 14488156 deletion of <=200bp C - exon_variant STAD-US 5 14488156 14488156 deletion of <=200bp C - frameshift_variant F2206 STAD-US 5 14488156 14488156 deletion of <=200bp C - frameshift_variant F2473 STAD-US 5 14488156 14488156 deletion of <=200bp C - intron_variant STAD-US 5 14488156 14488156 deletion of <=200bp C - upstream_gene_variant STAD-US 5 14488156 14488156 insertion of <=200bp - CC downstream_gene_variant STAD-US 5 14488156 14488156 insertion of <=200bp - CC exon_variant STAD-US 5 14488156 14488156 insertion of <=200bp - CC frameshift_variant F2206F? STAD-US 5 14488156 14488156 insertion of <=200bp - CC frameshift_variant F2473F? STAD-US 5 14488156 14488156 insertion of <=200bp - CC intron_variant STAD-US 5 14488156 14488156 insertion of <=200bp - CC upstream_gene_variant STAD-US 5 14488310 14488310 single base substitution C T downstream_gene_variant STAD-US 5 14488310 14488310 single base substitution C T exon_variant STAD-US 5 14488310 14488310 single base substitution C T intron_variant STAD-US 5 14488310 14488310 single base substitution C T missense_variant R2258C 6772C>T STAD-US 5 14488310 14488310 single base substitution C T missense_variant R2525C 7573C>T STAD-US 5 14488310 14488310 single base substitution C T upstream_gene_variant STAD-US 5 14492761 14492761 single base substitution A G 3_prime_UTR_variant STAD-US 5 14492761 14492761 single base substitution A G downstream_gene_variant STAD-US 5 14492761 14492761 single base substitution A G exon_variant STAD-US 5 14492761 14492761 single base substitution A G missense_variant Y2306C 6917A>G STAD-US 5 14492761 14492761 single base substitution A G missense_variant Y2397C 7190A>G STAD-US 5 14492761 14492761 single base substitution A G missense_variant Y2573C 7718A>G STAD-US 5 14492761 14492761 single base substitution A G missense_variant Y72C 215A>G STAD-US 5 14492826 14492826 single base substitution G A 3_prime_UTR_variant STAD-US 5 14492826 14492826 single base substitution G A downstream_gene_variant STAD-US 5 14492826 14492826 single base substitution G A exon_variant STAD-US 5 14492826 14492826 single base substitution G A missense_variant A2328T 6982G>A STAD-US 5 14492826 14492826 single base substitution G A missense_variant A2419T 7255G>A STAD-US 5 14492826 14492826 single base substitution G A missense_variant A2595T 7783G>A STAD-US 5 14492826 14492826 single base substitution G A missense_variant A94T 280G>A STAD-US 5 14498254 14498254 single base substitution G A 3_prime_UTR_variant STAD-US 5 14498254 14498254 single base substitution G A downstream_gene_variant STAD-US 5 14498254 14498254 single base substitution G A exon_variant STAD-US 5 14498254 14498254 single base substitution G A missense_variant V201I 601G>A STAD-US 5 14498254 14498254 single base substitution G A missense_variant V2435I 7303G>A STAD-US 5 14498254 14498254 single base substitution G A missense_variant V2526I 7576G>A STAD-US 5 14498254 14498254 single base substitution G A missense_variant V2702I 8104G>A STAD-US 5 14498254 14498254 single base substitution G A upstream_gene_variant STAD-US 5 14498630 14498630 single base substitution A G downstream_gene_variant STAD-US 5 14498630 14498630 single base substitution A G exon_variant STAD-US 5 14498630 14498630 single base substitution A G missense_variant D237G 710A>G STAD-US 5 14498630 14498630 single base substitution A G missense_variant D2471G 7412A>G STAD-US 5 14498630 14498630 single base substitution A G missense_variant D2562G 7685A>G STAD-US 5 14498630 14498630 single base substitution A G missense_variant D2738G 8213A>G STAD-US 5 14498630 14498630 single base substitution A G splice_region_variant STAD-US 5 14498693 14498693 single base substitution G A 3_prime_UTR_variant STAD-US 5 14498693 14498693 single base substitution G A downstream_gene_variant STAD-US 5 14498693 14498693 single base substitution G A exon_variant STAD-US 5 14498693 14498693 single base substitution G A missense_variant C2492Y 7475G>A STAD-US 5 14498693 14498693 single base substitution G A missense_variant C2583Y 7748G>A STAD-US 5 14498693 14498693 single base substitution G A missense_variant C258Y 773G>A STAD-US 5 14498693 14498693 single base substitution G A missense_variant C2759Y 8276G>A STAD-US 5 14498708 14498708 single base substitution A C 3_prime_UTR_variant STAD-US 5 14498708 14498708 single base substitution A C downstream_gene_variant STAD-US 5 14498708 14498708 single base substitution A C exon_variant STAD-US 5 14498708 14498708 single base substitution A C missense_variant D2497A 7490A>C STAD-US 5 14498708 14498708 single base substitution A C missense_variant D2588A 7763A>C STAD-US 5 14498708 14498708 single base substitution A C missense_variant D263A 788A>C STAD-US 5 14498708 14498708 single base substitution A C missense_variant D2764A 8291A>C STAD-US 5 14504592 14504592 single base substitution C G 3_prime_UTR_variant STAD-US 5 14504592 14504592 single base substitution C G exon_variant STAD-US 5 14504592 14504592 single base substitution C G intron_variant STAD-US 5 14504592 14504592 single base substitution C G synonymous_variant R2658R 7974C>G STAD-US 5 14504592 14504592 single base substitution C G synonymous_variant R2834R 8502C>G STAD-US 5 14504592 14504592 single base substitution C G synonymous_variant R333R 999C>G STAD-US 5 14504593 14504593 single base substitution G A 3_prime_UTR_variant STAD-US 5 14504593 14504593 single base substitution G A exon_variant STAD-US 5 14504593 14504593 single base substitution G A intron_variant STAD-US 5 14504593 14504593 single base substitution G A missense_variant D2659N 7975G>A STAD-US 5 14504593 14504593 single base substitution G A missense_variant D2835N 8503G>A STAD-US 5 14504593 14504593 single base substitution G A missense_variant D334N 1000G>A STAD-US 5 14504649 14504649 single base substitution C T 3_prime_UTR_variant STAD-US 5 14504649 14504649 single base substitution C T exon_variant STAD-US 5 14504649 14504649 single base substitution C T intron_variant STAD-US 5 14504649 14504649 single base substitution C T synonymous_variant V2677V 8031C>T STAD-US 5 14504649 14504649 single base substitution C T synonymous_variant V2853V 8559C>T STAD-US 5 14504649 14504649 single base substitution C T synonymous_variant V352V 1056C>T STAD-US 5 14507244 14507244 single base substitution C T 3_prime_UTR_variant STAD-US 5 14507244 14507244 single base substitution C T downstream_gene_variant STAD-US 5 14507244 14507244 single base substitution C T intron_variant STAD-US 5 14507244 14507244 single base substitution C T missense_variant R2700C 8098C>T STAD-US 5 14507244 14507244 single base substitution C T missense_variant R2876C 8626C>T STAD-US 5 14507244 14507244 single base substitution C T missense_variant R375C 1123C>T STAD-US 5 14508455 14508455 single base substitution G A 3_prime_UTR_variant STAD-US 5 14508455 14508455 single base substitution G A downstream_gene_variant STAD-US 5 14508455 14508455 single base substitution G A intron_variant STAD-US 5 14508455 14508455 single base substitution G A missense_variant R2897H 8690G>A STAD-US 5 14508455 14508455 single base substitution G A missense_variant R3073H 9218G>A STAD-US 5 14508455 14508455 single base substitution G A missense_variant R572H 1715G>A THCA-SA 5 14368975 14368975 single base substitution C T exon_variant THCA-SA 5 14368975 14368975 single base substitution C T synonymous_variant N1011N 3033C>T THCA-SA 5 14368975 14368975 single base substitution C T synonymous_variant N744N 2232C>T THCA-SA 5 14368975 14368975 single base substitution C T synonymous_variant N962N 2886C>T THCA-US 5 14293176 14293176 single base substitution T C downstream_gene_variant THCA-US 5 14293176 14293176 single base substitution T C exon_variant THCA-US 5 14293176 14293176 single base substitution T C missense_variant I103T 308T>C THCA-US 5 14293176 14293176 single base substitution T C missense_variant I321T 962T>C THCA-US 5 14293176 14293176 single base substitution T C missense_variant I370T 1109T>C THCA-US 5 14297305 14297305 single base substitution C T exon_variant THCA-US 5 14297305 14297305 single base substitution C T missense_variant A167V 500C>T THCA-US 5 14297305 14297305 single base substitution C T missense_variant A385V 1154C>T THCA-US 5 14297305 14297305 single base substitution C T missense_variant A434V 1301C>T THCA-US 5 14492733 14492733 single base substitution G A 3_prime_UTR_variant THCA-US 5 14492733 14492733 single base substitution G A downstream_gene_variant THCA-US 5 14492733 14492733 single base substitution G A exon_variant THCA-US 5 14492733 14492733 single base substitution G A missense_variant A2297T 6889G>A THCA-US 5 14492733 14492733 single base substitution G A missense_variant A2388T 7162G>A THCA-US 5 14492733 14492733 single base substitution G A missense_variant A2564T 7690G>A THCA-US 5 14492733 14492733 single base substitution G A missense_variant A63T 187G>A UCEC-US 5 14290858 14290858 single base substitution G A downstream_gene_variant UCEC-US 5 14290858 14290858 single base substitution G A exon_variant UCEC-US 5 14290858 14290858 single base substitution G A missense_variant V143I 427G>A UCEC-US 5 14290858 14290858 single base substitution G A missense_variant V192I 574G>A UCEC-US 5 14290858 14290858 single base substitution G A upstream_gene_variant UCEC-US 5 14290915 14290915 single base substitution G A downstream_gene_variant UCEC-US 5 14290915 14290915 single base substitution G A exon_variant UCEC-US 5 14290915 14290915 single base substitution G A missense_variant E162K 484G>A UCEC-US 5 14290915 14290915 single base substitution G A missense_variant E211K 631G>A UCEC-US 5 14290915 14290915 single base substitution G A upstream_gene_variant UCEC-US 5 14290918 14290918 single base substitution G T downstream_gene_variant UCEC-US 5 14290918 14290918 single base substitution G T exon_variant UCEC-US 5 14290918 14290918 single base substitution G T stop_gained E163* 487G>T UCEC-US 5 14290918 14290918 single base substitution G T stop_gained E212* 634G>T UCEC-US 5 14290918 14290918 single base substitution G T upstream_gene_variant UCEC-US 5 14291101 14291101 single base substitution G A downstream_gene_variant UCEC-US 5 14291101 14291101 single base substitution G A exon_variant UCEC-US 5 14291101 14291101 single base substitution G A missense_variant E224K 670G>A UCEC-US 5 14291101 14291101 single base substitution G A missense_variant E273K 817G>A UCEC-US 5 14291101 14291101 single base substitution G A missense_variant E6K 16G>A UCEC-US 5 14291101 14291101 single base substitution G A upstream_gene_variant UCEC-US 5 14291190 14291190 single base substitution G A downstream_gene_variant UCEC-US 5 14291190 14291190 single base substitution G A exon_variant UCEC-US 5 14291190 14291190 single base substitution G A synonymous_variant A253A 759G>A UCEC-US 5 14291190 14291190 single base substitution G A synonymous_variant A302A 906G>A UCEC-US 5 14291190 14291190 single base substitution G A synonymous_variant A35A 105G>A UCEC-US 5 14291190 14291190 single base substitution G A upstream_gene_variant UCEC-US 5 14293230 14293230 single base substitution C G downstream_gene_variant UCEC-US 5 14293230 14293230 single base substitution C G exon_variant UCEC-US 5 14293230 14293230 single base substitution C G missense_variant A121G 362C>G UCEC-US 5 14293230 14293230 single base substitution C G missense_variant A339G 1016C>G UCEC-US 5 14293230 14293230 single base substitution C G missense_variant A388G 1163C>G UCEC-US 5 14297204 14297204 single base substitution C T exon_variant UCEC-US 5 14297204 14297204 single base substitution C T synonymous_variant R133R 399C>T UCEC-US 5 14297204 14297204 single base substitution C T synonymous_variant R351R 1053C>T UCEC-US 5 14297204 14297204 single base substitution C T synonymous_variant R400R 1200C>T UCEC-US 5 14297252 14297252 single base substitution G A exon_variant UCEC-US 5 14297252 14297252 single base substitution G A synonymous_variant S149S 447G>A UCEC-US 5 14297252 14297252 single base substitution G A synonymous_variant S367S 1101G>A UCEC-US 5 14297252 14297252 single base substitution G A synonymous_variant S416S 1248G>A UCEC-US 5 14297305 14297305 single base substitution C T exon_variant UCEC-US 5 14297305 14297305 single base substitution C T missense_variant A167V 500C>T UCEC-US 5 14297305 14297305 single base substitution C T missense_variant A385V 1154C>T UCEC-US 5 14297305 14297305 single base substitution C T missense_variant A434V 1301C>T UCEC-US 5 14316823 14316823 single base substitution C A exon_variant UCEC-US 5 14316823 14316823 single base substitution C A missense_variant L301M 901C>A UCEC-US 5 14316823 14316823 single base substitution C A missense_variant L519M 1555C>A UCEC-US 5 14316823 14316823 single base substitution C A missense_variant L568M 1702C>A UCEC-US 5 14336775 14336775 single base substitution G A exon_variant UCEC-US 5 14336775 14336775 single base substitution G A missense_variant R395H 1184G>A UCEC-US 5 14336775 14336775 single base substitution G A missense_variant R613H 1838G>A UCEC-US 5 14336775 14336775 single base substitution G A missense_variant R662H 1985G>A UCEC-US 5 14359615 14359615 single base substitution G A exon_variant UCEC-US 5 14359615 14359615 single base substitution G A missense_variant R522H 1565G>A UCEC-US 5 14359615 14359615 single base substitution G A missense_variant R740H 2219G>A UCEC-US 5 14359615 14359615 single base substitution G A missense_variant R789H 2366G>A UCEC-US 5 14359632 14359632 single base substitution G A exon_variant UCEC-US 5 14359632 14359632 single base substitution G A missense_variant A528T 1582G>A UCEC-US 5 14359632 14359632 single base substitution G A missense_variant A746T 2236G>A UCEC-US 5 14359632 14359632 single base substitution G A missense_variant A795T 2383G>A UCEC-US 5 14359641 14359641 single base substitution G A splice_donor_variant UCEC-US 5 14363897 14363897 single base substitution C T exon_variant UCEC-US 5 14363897 14363897 single base substitution C T synonymous_variant F549F 1647C>T UCEC-US 5 14363897 14363897 single base substitution C T synonymous_variant F767F 2301C>T UCEC-US 5 14363897 14363897 single base substitution C T synonymous_variant F816F 2448C>T UCEC-US 5 14364800 14364800 single base substitution C T exon_variant UCEC-US 5 14364800 14364800 single base substitution C T missense_variant R610W 1828C>T UCEC-US 5 14364800 14364800 single base substitution C T missense_variant R828W 2482C>T UCEC-US 5 14364800 14364800 single base substitution C T missense_variant R877W 2629C>T UCEC-US 5 14366971 14366971 single base substitution G A splice_region_variant UCEC-US 5 14368958 14368958 single base substitution C T exon_variant UCEC-US 5 14368958 14368958 single base substitution C T missense_variant R1006C 3016C>T UCEC-US 5 14368958 14368958 single base substitution C T missense_variant R739C 2215C>T UCEC-US 5 14368958 14368958 single base substitution C T missense_variant R957C 2869C>T UCEC-US 5 14369542 14369542 single base substitution C T exon_variant UCEC-US 5 14369542 14369542 single base substitution C T synonymous_variant G1042G 3126C>T UCEC-US 5 14369542 14369542 single base substitution C T synonymous_variant G775G 2325C>T UCEC-US 5 14369542 14369542 single base substitution C T synonymous_variant G993G 2979C>T UCEC-US 5 14387715 14387715 single base substitution G A exon_variant UCEC-US 5 14387715 14387715 single base substitution G A missense_variant G1198R 3592G>A UCEC-US 5 14387715 14387715 single base substitution G A missense_variant G1247R 3739G>A UCEC-US 5 14387715 14387715 single base substitution G A missense_variant G980R 2938G>A UCEC-US 5 14387715 14387715 single base substitution G A upstream_gene_variant UCEC-US 5 14387886 14387886 single base substitution T G exon_variant UCEC-US 5 14387886 14387886 single base substitution T G missense_variant S1004A 3010T>G UCEC-US 5 14387886 14387886 single base substitution T G missense_variant S1222A 3664T>G UCEC-US 5 14387886 14387886 single base substitution T G missense_variant S1271A 3811T>G UCEC-US 5 14387886 14387886 single base substitution T G upstream_gene_variant UCEC-US 5 14387901 14387901 single base substitution C T exon_variant UCEC-US 5 14387901 14387901 single base substitution C T stop_gained R1009* 3025C>T UCEC-US 5 14387901 14387901 single base substitution C T stop_gained R1227* 3679C>T UCEC-US 5 14387901 14387901 single base substitution C T stop_gained R1276* 3826C>T UCEC-US 5 14387901 14387901 single base substitution C T upstream_gene_variant UCEC-US 5 14389400 14389400 single base substitution G A downstream_gene_variant UCEC-US 5 14389400 14389400 single base substitution G A splice_region_variant UCEC-US 5 14389473 14389473 single base substitution G T downstream_gene_variant UCEC-US 5 14389473 14389473 single base substitution G T exon_variant UCEC-US 5 14389473 14389473 single base substitution G T stop_gained G1075* 3223G>T UCEC-US 5 14389473 14389473 single base substitution G T stop_gained G1293* 3877G>T UCEC-US 5 14389473 14389473 single base substitution G T stop_gained G1342* 4024G>T UCEC-US 5 14397162 14397162 single base substitution C T exon_variant UCEC-US 5 14397162 14397162 single base substitution C T missense_variant T1174M 3521C>T UCEC-US 5 14397162 14397162 single base substitution C T missense_variant T1392M 4175C>T UCEC-US 5 14397162 14397162 single base substitution C T missense_variant T1441M 4322C>T UCEC-US 5 14397162 14397162 single base substitution C T upstream_gene_variant UCEC-US 5 14399069 14399069 single base substitution C T downstream_gene_variant UCEC-US 5 14399069 14399069 single base substitution C T exon_variant UCEC-US 5 14399069 14399069 single base substitution C T stop_gained R1235* 3703C>T UCEC-US 5 14399069 14399069 single base substitution C T stop_gained R1453* 4357C>T UCEC-US 5 14399069 14399069 single base substitution C T stop_gained R1502* 4504C>T UCEC-US 5 14399069 14399069 single base substitution C T upstream_gene_variant UCEC-US 5 14399085 14399085 single base substitution G A downstream_gene_variant UCEC-US 5 14399085 14399085 single base substitution G A exon_variant UCEC-US 5 14399085 14399085 single base substitution G A missense_variant R1240Q 3719G>A UCEC-US 5 14399085 14399085 single base substitution G A missense_variant R1458Q 4373G>A UCEC-US 5 14399085 14399085 single base substitution G A missense_variant R1507Q 4520G>A UCEC-US 5 14399085 14399085 single base substitution G A upstream_gene_variant UCEC-US 5 14401161 14401161 single base substitution A C downstream_gene_variant UCEC-US 5 14401161 14401161 single base substitution A C exon_variant UCEC-US 5 14401161 14401161 single base substitution A C missense_variant K1301N 3903A>C UCEC-US 5 14401161 14401161 single base substitution A C missense_variant K1568N 4704A>C UCEC-US 5 14405990 14405990 single base substitution A G exon_variant UCEC-US 5 14405990 14405990 single base substitution A G missense_variant K1317E 3949A>G UCEC-US 5 14405990 14405990 single base substitution A G missense_variant K1584E 4750A>G UCEC-US 5 14405990 14405990 single base substitution A G upstream_gene_variant UCEC-US 5 14406051 14406051 single base substitution C T exon_variant UCEC-US 5 14406051 14406051 single base substitution C T missense_variant P1337L 4010C>T UCEC-US 5 14406051 14406051 single base substitution C T missense_variant P1604L 4811C>T UCEC-US 5 14406051 14406051 single base substitution C T upstream_gene_variant UCEC-US 5 14406753 14406753 single base substitution C T exon_variant UCEC-US 5 14406753 14406753 single base substitution C T missense_variant T1377M 4130C>T UCEC-US 5 14406753 14406753 single base substitution C T missense_variant T1644M 4931C>T UCEC-US 5 14462947 14462947 single base substitution C T exon_variant UCEC-US 5 14462947 14462947 single base substitution C T synonymous_variant G1593G 4779C>T UCEC-US 5 14462947 14462947 single base substitution C T synonymous_variant G1860G 5580C>T UCEC-US 5 14471497 14471497 single base substitution C T downstream_gene_variant UCEC-US 5 14471497 14471497 single base substitution C T exon_variant UCEC-US 5 14471497 14471497 single base substitution C T missense_variant S1678L 5033C>T UCEC-US 5 14471497 14471497 single base substitution C T missense_variant S1945L 5834C>T UCEC-US 5 14471497 14471497 single base substitution C T upstream_gene_variant UCEC-US 5 14471511 14471511 single base substitution C A downstream_gene_variant UCEC-US 5 14471511 14471511 single base substitution C A exon_variant UCEC-US 5 14471511 14471511 single base substitution C A missense_variant L1683I 5047C>A UCEC-US 5 14471511 14471511 single base substitution C A missense_variant L1950I 5848C>A UCEC-US 5 14471511 14471511 single base substitution C A upstream_gene_variant UCEC-US 5 14479436 14479436 single base substitution G A downstream_gene_variant UCEC-US 5 14479436 14479436 single base substitution G A exon_variant UCEC-US 5 14479436 14479436 single base substitution G A missense_variant E1807K 5419G>A UCEC-US 5 14479436 14479436 single base substitution G A missense_variant E2074K 6220G>A UCEC-US 5 14479436 14479436 single base substitution G A upstream_gene_variant UCEC-US 5 14480112 14480112 single base substitution T G downstream_gene_variant UCEC-US 5 14480112 14480112 single base substitution T G exon_variant UCEC-US 5 14480112 14480112 single base substitution T G missense_variant L1843V 5527T>G UCEC-US 5 14480112 14480112 single base substitution T G missense_variant L2110V 6328T>G UCEC-US 5 14480112 14480112 single base substitution T G upstream_gene_variant UCEC-US 5 14482784 14482784 single base substitution C T downstream_gene_variant UCEC-US 5 14482784 14482784 single base substitution C T exon_variant UCEC-US 5 14482784 14482784 single base substitution C T missense_variant R1920C 5758C>T UCEC-US 5 14482784 14482784 single base substitution C T missense_variant R2187C 6559C>T UCEC-US 5 14482807 14482807 single base substitution C T downstream_gene_variant UCEC-US 5 14482807 14482807 single base substitution C T exon_variant UCEC-US 5 14482807 14482807 single base substitution C T synonymous_variant I1927I 5781C>T UCEC-US 5 14482807 14482807 single base substitution C T synonymous_variant I2194I 6582C>T UCEC-US 5 14497079 14497079 single base substitution G A 3_prime_UTR_variant UCEC-US 5 14497079 14497079 single base substitution G A exon_variant UCEC-US 5 14497079 14497079 single base substitution G A missense_variant G157S 469G>A UCEC-US 5 14497079 14497079 single base substitution G A missense_variant G2391S 7171G>A UCEC-US 5 14497079 14497079 single base substitution G A missense_variant G2482S 7444G>A UCEC-US 5 14497079 14497079 single base substitution G A missense_variant G2658S 7972G>A UCEC-US 5 14497079 14497079 single base substitution G A upstream_gene_variant UCEC-US 5 14498717 14498717 single base substitution C T 3_prime_UTR_variant UCEC-US 5 14498717 14498717 single base substitution C T downstream_gene_variant UCEC-US 5 14498717 14498717 single base substitution C T exon_variant UCEC-US 5 14498717 14498717 single base substitution C T missense_variant S2500L 7499C>T UCEC-US 5 14498717 14498717 single base substitution C T missense_variant S2591L 7772C>T UCEC-US 5 14498717 14498717 single base substitution C T missense_variant S266L 797C>T UCEC-US 5 14498717 14498717 single base substitution C T missense_variant S2767L 8300C>T UCEC-US 5 14498739 14498739 single base substitution G A 3_prime_UTR_variant UCEC-US 5 14498739 14498739 single base substitution G A downstream_gene_variant UCEC-US 5 14498739 14498739 single base substitution G A exon_variant UCEC-US 5 14498739 14498739 single base substitution G A synonymous_variant L2507L 7521G>A UCEC-US 5 14498739 14498739 single base substitution G A synonymous_variant L2598L 7794G>A UCEC-US 5 14498739 14498739 single base substitution G A synonymous_variant L273L 819G>A UCEC-US 5 14498739 14498739 single base substitution G A synonymous_variant L2774L 8322G>A UCEC-US 5 14504623 14504623 single base substitution C T 3_prime_UTR_variant UCEC-US 5 14504623 14504623 single base substitution C T exon_variant UCEC-US 5 14504623 14504623 single base substitution C T intron_variant UCEC-US 5 14504623 14504623 single base substitution C T stop_gained Q2669* 8005C>T UCEC-US 5 14504623 14504623 single base substitution C T stop_gained Q2845* 8533C>T UCEC-US 5 14504623 14504623 single base substitution C T stop_gained Q344* 1030C>T UCEC-US 5 14508111 14508111 single base substitution C T 3_prime_UTR_variant UCEC-US 5 14508111 14508111 single base substitution C T downstream_gene_variant UCEC-US 5 14508111 14508111 single base substitution C T exon_variant UCEC-US 5 14508111 14508111 single base substitution C T intron_variant UCEC-US 5 14508111 14508111 single base substitution C T synonymous_variant F2782F 8346C>T UCEC-US 5 14508111 14508111 single base substitution C T synonymous_variant F2958F 8874C>T UCEC-US 5 14508111 14508111 single base substitution C T synonymous_variant F457F 1371C>T UCEC-US 5 14508116 14508116 single base substitution C T 3_prime_UTR_variant UCEC-US 5 14508116 14508116 single base substitution C T downstream_gene_variant UCEC-US 5 14508116 14508116 single base substitution C T exon_variant UCEC-US 5 14508116 14508116 single base substitution C T intron_variant UCEC-US 5 14508116 14508116 single base substitution C T missense_variant A2784V 8351C>T UCEC-US 5 14508116 14508116 single base substitution C T missense_variant A2960V 8879C>T UCEC-US 5 14508116 14508116 single base substitution C T missense_variant A459V 1376C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HN_62506 COSM129914 c.3363C>A p.N1121K Substitution - Missense 5:14378043-14378043 + TCGA-AZ-6598-01 COSM1434831 c.165delA p.N57fs*4 Deletion - Frameshift 5:14270832-14270832 + 343-03-4TD COSM5418473 c.7867G>T p.D2623Y Substitution - Missense 5:14492801-14492801 + TCGA-AR-A1AK-01 COSM449034 c.5972T>C p.V1991A Substitution - Missense 5:14472651-14472651 + TCGA-A2-A0CK-01 COSM3827297 c.528A>G p.K176K Substitution - coding silent 5:14287051-14287051 + TCGA-13-0801-01 COSM78702 c.3232C>G p.R1078G Substitution - Missense 5:14374244-14374244 + LUAD-S01315 COSM345719 c.4633A>T p.T1545S Substitution - Missense 5:14400981-14400981 + STC246 COSM5060806 c.266C>T p.T89M Substitution - Missense 5:14280355-14280355 + TCGA-AA-A01Q-01 COSM300125 c.379A>G p.I127V Substitution - Missense 5:14286902-14286902 + TCGA-HT-7687-01 COSM3975304 c.8132G>A p.R2711H Substitution - Missense 5:14498173-14498173 + TCGA-BR-6452-01 COSM3852374 c.6770G>T p.S2257I Substitution - Missense 5:14485181-14485181 + TCGA-AU-6004-01 COSM1434867 c.6882C>G p.G2294G Substitution - coding silent 5:14487510-14487510 + 587222 COSM1063705 c.4504C>T p.R1502* Substitution - Nonsense 5:14398960-14398960 + CSCC-56-T COSM4501954 c.6013C>T p.P2005S Substitution - Missense 5:14474027-14474027 + TCGA-D3-A5GU-06 COSM3611897 c.4717G>A p.A1573T Substitution - Missense 5:14405848-14405848 + LP6007398-DNA_A01 COSM5951769 c.5307G>A p.P1769P Substitution - coding silent 5:14461122-14461122 + U2940 COSM5622055 c.820G>A p.D274N Substitution - Missense 5:14290995-14290995 + DN1401F COSM5961106 c.2710G>A p.E904K Substitution - Missense 5:14364772-14364772 + TCGA-CD-A4MH-01 COSM3852366 c.4812C>G p.P1604P Substitution - coding silent 5:14405943-14405943 + LS411 COSM1241852 c.6085delT p.L2031fs*1 Deletion - Frameshift 5:14476895-14476895 + TCGA-BS-A0TJ-01 COSM1063729 c.8879C>T p.A2960V Substitution - Missense 5:14508007-14508007 + HCC1395 COSM20978 c.8626C>T p.R2876C Substitution - Missense 5:14507135-14507135 + TCGA-AP-A059-01 COSM1063709 c.4811C>T p.P1604L Substitution - Missense 5:14405942-14405942 + TCGA-AA-A010-01 COSM285965 c.6130C>A p.L2044I Substitution - Missense 5:14476940-14476940 + HCC8T COSM1619785 c.6908G>A p.G2303D Substitution - Missense 5:14487536-14487536 + AOCS-166-1-2 COSM4141527 c.8612+7A>G p.? Unknown 5:14504600-14504600 + BCM337T COSM4799160 c.9130G>A p.A3044T Substitution - Missense 5:14508258-14508258 + 126T COSM1725623 c.8423C>T p.S2808F Substitution - Missense 5:14504404-14504404 + T407 COSM1434868 c.7044delC p.V2351fs*62 Deletion - Frameshift 5:14487672-14487672 + TCGA-AX-A05Z-01 COSM1063718 c.6220G>A p.E2074K Substitution - Missense 5:14479327-14479327 + TCGA-BR-4361-01 COSM3852364 c.4580G>T p.G1527V Substitution - Missense 5:14399036-14399036 + RK150_C01 COSM3768212 c.540+9C>T p.? Unknown 5:14287072-14287072 + HCC1395 COSM20978 c.8626C>T p.R2876C Substitution - Missense 5:14507135-14507135 + S02384 COSM3209948 c.8295G>T p.M2765I Substitution - Missense 5:14498603-14498603 + PD1768a COSM30474 c.9008A>G p.N3003S Substitution - Missense 5:14508136-14508136 + TCGA-AA-3510-01 COSM1434857 c.5207C>T p.S1736L Substitution - Missense 5:14461022-14461022 + T191 COSM4736289 c.4677G>A p.V1559V Substitution - coding silent 5:14401025-14401025 + ESCC_42 COSM5629747 c.772G>A p.E258K Substitution - Missense 5:14290947-14290947 + TCGA-BR-7851-01 COSM3852368 c.5466G>A p.A1822A Substitution - coding silent 5:14461281-14461281 + Gp5D COSM1434831 c.165delA p.N57fs*4 Deletion - Frameshift 5:14270832-14270832 + HCC33 COSM1619786 c.8333G>T p.G2778V Substitution - Missense 5:14502579-14502579 + PCSI_0083_Pa_P COSM3381147 c.3165C>T p.H1055H Substitution - coding silent 5:14369472-14369472 + ESCC-015T COSM3941160 c.6467G>A p.G2156E Substitution - Missense 5:14482583-14482583 + 2011-2268:2012-368-T COSM4606214 c.1500+5G>A p.? Unknown 5:14304597-14304597 + TCGA-G3-A5SM-01 COSM4911322 c.3300G>A p.T1100T Substitution - coding silent 5:14374312-14374312 + PT17_1 COSM5898876 c.6154-4C>T p.? Unknown 5:14479257-14479257 + 8050308 COSM3393309 c.7880+7G>A p.? Unknown 5:14492821-14492821 + MZ7-mel COSM28321 c.7724G>A p.G2575E Substitution - Missense 5:14492658-14492658 + CSCC-41-T COSM4507639 c.7523C>T p.S2508F Substitution - Missense 5:14488151-14488151 + CHC892T COSM4794715 c.1647G>A p.R549R Substitution - coding silent 5:14316659-14316659 + YUMILAN COSM5402578 c.4302C>T p.L1434L Substitution - coding silent 5:14394121-14394121 + CHC1040T COSM4799531 c.1982G>C p.R661P Substitution - Missense 5:14336663-14336663 + ESCC-F21 COSM5047334 c.2779G>C p.E927Q Substitution - Missense 5:14366884-14366884 + TCGA-DG-A2KM-01 COSM4851630 c.6776G>A p.R2259Q Substitution - Missense 5:14485187-14485187 + LAU165 COSM233648 c.3563C>G p.T1188S Substitution - Missense 5:14381245-14381245 + YUROC COSM4605742 c.6614A>G p.K2205R Substitution - Missense 5:14482730-14482730 + TCGA-H4-A2HQ-01 COSM1310811 c.3853G>C p.E1285Q Substitution - Missense 5:14387819-14387819 + LUAD_E00522 COSM353343 c.1783_1784GG>TT p.G595>? Complex 5:14330829-14330830 + LIM2551 COSM4644645 c.1210G>A p.V404M Substitution - Missense 5:14297105-14297105 + S02244 COSM5678262 c.5601G>T p.V1867V Substitution - coding silent 5:14462859-14462859 + LIM2405 COSM4642960 c.8229G>A p.T2743T Substitution - coding silent 5:14498537-14498537 + PCSI_0083_Pa_P_526 COSM3381147 c.3165C>T p.H1055H Substitution - coding silent 5:14369472-14369472 + TCGA-BS-A0TC-01 COSM1063665 c.631G>A p.E211K Substitution - Missense 5:14290806-14290806 + 002 COSM1162078 c.2340C>G p.I780M Substitution - Missense 5:14359480-14359480 + RKO COSM3209875 c.6330A>G p.L2110L Substitution - coding silent 5:14480005-14480005 + TCGA-DK-A1A7-01 COSM420850 c.7764G>A p.M2588I Substitution - Missense 5:14492698-14492698 + TCGA-AP-A059-01 COSM1063671 c.1248G>A p.S416S Substitution - coding silent 5:14297143-14297143 + SH-0622 COSM5017794 c.8547delC p.L2851fs*19 Deletion - Frameshift 5:14504528-14504528 + LOVO COSM3209752 c.2178C>T p.N726N Substitution - coding silent 5:14358309-14358309 + YUQUEST COSM5402582 c.7880+1G>C p.? Unknown 5:14492815-14492815 + ESCC-209T COSM3941158 c.2179G>A p.V727M Substitution - Missense 5:14358310-14358310 + TCGA-18-3409-01 COSM736522 c.8320C>T p.L2774L Substitution - coding silent 5:14498628-14498628 + TCGA-A8-A09Z-01 COSM129913 c.2092G>A p.V698M Substitution - Missense 5:14358223-14358223 + BD186T COSM5501187 c.5441C>T p.S1814L Substitution - Missense 5:14461256-14461256 + TCGA-AP-A0LM-01 COSM1063695 c.3016C>T p.R1006C Substitution - Missense 5:14368849-14368849 + TCGA-EY-A1GS-01 COSM1063676 c.1985G>A p.R662H Substitution - Missense 5:14336666-14336666 + TCGA-AX-A05Z-01 COSM1063716 c.5848C>A p.L1950I Substitution - Missense 5:14471402-14471402 + 8064580 COSM4389033 c.7272C>T p.N2424N Substitution - coding silent 5:14487900-14487900 + C391 COSM4441793 c.4337G>T p.G1446V Substitution - Missense 5:14397068-14397068 + TCGA-CZ-5457-01 COSM482271 c.6704A>T p.K2235I Substitution - Missense 5:14485115-14485115 + LUAD-E00934 COSM393698 c.589C>T p.Q197* Substitution - Nonsense 5:14290764-14290764 + 587342 COSM1230436 c.4319T>C p.L1440P Substitution - Missense 5:14397050-14397050 + T3454 COSM4736293 c.7107G>A p.T2369T Substitution - coding silent 5:14487735-14487735 + sysucc-1370T COSM5472039 c.2817G>A p.S939S Substitution - coding silent 5:14366922-14366922 + TCGA-FU-A3EO-01 COSM4829254 c.6084C>G p.D2028E Substitution - Missense 5:14476894-14476894 + TCGA-G4-6317-01 COSM1434845 c.2091C>T p.D697D Substitution - coding silent 5:14358222-14358222 + BD165T COSM1434868 c.7044delC p.V2351fs*62 Deletion - Frameshift 5:14487672-14487672 + TCGA-22-4593-01 COSM736540 c.1804C>G p.R602G Substitution - Missense 5:14330850-14330850 + HCC107T COSM1619784 c.6560G>T p.R2187L Substitution - Missense 5:14482676-14482676 + TCGA-EE-A29L-06 COSM3611896 c.3826C>A p.R1276R Substitution - coding silent 5:14387792-14387792 + TCGA-AA-A010-01 COSM285964 c.512A>C p.N171T Substitution - Missense 5:14287035-14287035 + RK172_C01 COSM3702752 c.3883T>G p.F1295V Substitution - Missense 5:14388614-14388614 + CR007 COSM4994585 c.6826T>A p.F2276I Substitution - Missense 5:14485237-14485237 + T2197 COSM4736296 c.9120G>A p.S3040S Substitution - coding silent 5:14508248-14508248 + TCGA-DI-A0WH-01 COSM1063717 c.5948A>G p.D1983G Substitution - Missense 5:14472627-14472627 + HCC1395 COSM20978 c.8626C>T p.R2876C Substitution - Missense 5:14507135-14507135 + UM-SCC-2 COSM4599334 c.199C>T p.P67S Substitution - Missense 5:14270866-14270866 + TCGA-AX-A0IW-01 COSM1063700 c.3811T>G p.S1271A Substitution - Missense 5:14387777-14387777 + WSU-HN8 COSM4590339 c.4828A>C p.T1610P Substitution - Missense 5:14405959-14405959 + PD4126a COSM165152 c.8983G>A p.D2995N Substitution - Missense 5:14508111-14508111 + TCGA-BR-7959-01 COSM3852361 c.3693C>A p.F1231L Substitution - Missense 5:14387560-14387560 + TCGA-FS-A1ZF-06 COSM3611912 c.5872G>A p.E1958K Substitution - Missense 5:14471426-14471426 + EV002-R1 COSM1162078 c.2340C>G p.I780M Substitution - Missense 5:14359480-14359480 + TCGA-DT-5265-01 COSM1567860 c.5001C>T p.F1667F Substitution - coding silent 5:14419819-14419819 + STC291 COSM1063672 c.1301C>T p.A434V Substitution - Missense 5:14297196-14297196 + HCC160T COSM3661560 c.6419G>T p.R2140M Substitution - Missense 5:14481572-14481572 + TCGA-DK-A1A3-01 COSM420852 c.3982G>A p.E1328K Substitution - Missense 5:14389322-14389322 + BN30 COSM1619788 c.8634G>A p.L2878L Substitution - coding silent 5:14507143-14507143 + LUAD-NYU847 COSM376831 c.5107C>T p.R1703C Substitution - Missense 5:14419925-14419925 + TCGA-19-2624 COSM2156193 c.5592C>G p.A1864A Substitution - coding silent 5:14462850-14462850 + LUAD-S01315 COSM345720 c.8158G>C p.G2720R Substitution - Missense 5:14498199-14498199 + TCGA-BS-A0UF-01 COSM1063691 c.2448C>T p.F816F Substitution - coding silent 5:14363788-14363788 + 1_RESISTANT COSM1720776 c.6470A>G p.K2157R Substitution - Missense 5:14482586-14482586 + TCGA-BR-4362-01 COSM3209942 c.8104G>A p.V2702I Substitution - Missense 5:14498145-14498145 + T3090 COSM4736283 c.365G>A p.R122H Substitution - Missense 5:14286888-14286888 + TCGA-66-2791-01 COSM736534 c.3352C>A p.Q1118K Substitution - Missense 5:14378032-14378032 + WSU-HN13 COSM4590339 c.4828A>C p.T1610P Substitution - Missense 5:14405959-14405959 + LC_C32 COSM1186744 c.656C>T p.A219V Substitution - Missense 5:14290831-14290831 + SNUH_G10_S1 COSM4003365 c.9110A>T p.K3037M Substitution - Missense 5:14508238-14508238 + TCGA-AA-3662-01 COSM3697056 c.7434C>T p.P2478P Substitution - coding silent 5:14488062-14488062 + CSCC-19-T COSM4511276 c.8631C>T p.L2877L Substitution - coding silent 5:14507140-14507140 + HCC14 COSM1619787 c.8503G>T p.D2835Y Substitution - Missense 5:14504484-14504484 + Au1 COSM5597759 c.7496C>T p.S2499F Substitution - Missense 5:14488124-14488124 + STC252 COSM5060807 c.415A>G p.K139E Substitution - Missense 5:14286938-14286938 + TCGA-BH-A0HF-01 COSM3827310 c.8629C>T p.L2877F Substitution - Missense 5:14507138-14507138 + TCGA-22-5471-01 COSM736531 c.3975C>A p.G1325G Substitution - coding silent 5:14389315-14389315 + CHC603T COSM3669425 c.7388G>T p.S2463I Substitution - Missense 5:14488016-14488016 + CSCC-5-T COSM4510458 c.8381C>T p.S2794F Substitution - Missense 5:14502627-14502627 + TCGA-BR-8680-01 COSM3852369 c.5514C>T p.G1838G Substitution - coding silent 5:14462772-14462772 + TCGA-DK-A3WX-01 COSM3776394 c.6748A>G p.I2250V Substitution - Missense 5:14485159-14485159 + 261T COSM1727058 c.6524A>T p.Q2175L Substitution - Missense 5:14482640-14482640 + TCGA-66-2756-01 COSM736528 c.5691C>T p.R1897R Substitution - coding silent 5:14465568-14465568 + Pat_41_B COSM5867708 c.904G>A p.A302T Substitution - Missense 5:14291079-14291079 + D2 COSM5007349 c.8411+2T>G p.? Unknown 5:14502659-14502659 + RK224_C01 COSM3209705 c.1198C>T p.R400C Substitution - Missense 5:14297093-14297093 + S02248 COSM5679753 c.8679G>T p.R2893S Substitution - Missense 5:14507188-14507188 + WSU-HN6 COSM4590339 c.4828A>C p.T1610P Substitution - Missense 5:14405959-14405959 + PD1403a COSM20793 c.4797A>G p.G1599G Substitution - coding silent 5:14405928-14405928 + CSCC-40-T COSM4449359 c.2116delG p.V706fs*18 Deletion - Frameshift 5:14358247-14358247 + QC2-32-T2 COSM5654018 c.3033C>T p.N1011N Substitution - coding silent 5:14368866-14368866 + HCC154T COSM3661559 c.5609C>T p.P1870L Substitution - Missense 5:14462867-14462867 + EGC15 COSM1434868 c.7044delC p.V2351fs*62 Deletion - Frameshift 5:14487672-14487672 + TCGA-BR-4256-01 COSM285966 c.8559C>T p.V2853V Substitution - coding silent 5:14504540-14504540 + TCGA-AN-A046-01 COSM3827303 c.4505G>A p.R1502Q Substitution - Missense 5:14398961-14398961 + ESCC-F53 COSM5048000 c.5215G>A p.V1739I Substitution - Missense 5:14461030-14461030 + UM-SCC-2 COSM4590339 c.4828A>C p.T1610P Substitution - Missense 5:14405959-14405959 + TCGA-04-1331-01 COSM80680 c.1200C>G p.R400R Substitution - coding silent 5:14297095-14297095 + AOCS-123-1-7 COSM4141525 c.5748C>T p.L1916L Substitution - coding silent 5:14465625-14465625 + TCGA-EB-A41A-01 COSM3611883 c.2635C>T p.Q879* Substitution - Nonsense 5:14364697-14364697 + ESO-539 COSM1268608 c.3961G>T p.E1321* Substitution - Nonsense 5:14389301-14389301 + B59-0 COSM1754092 c.7544G>A p.R2515H Substitution - Missense 5:14488172-14488172 + PT55 COSM5942012 c.7881-7C>T p.? Unknown 5:14496872-14496872 + 587350 COSM1230435 c.4674G>T p.W1558C Substitution - Missense 5:14401022-14401022 + TCGA-A8-A0A6-01 COSM3827308 c.8587A>C p.T2863P Substitution - Missense 5:14504568-14504568 + TCGA-AZ-6598-01 COSM1434868 c.7044delC p.V2351fs*62 Deletion - Frameshift 5:14487672-14487672 + KPOPBR-03-T COSM5965356 c.3006G>C p.K1002N Substitution - Missense 5:14368839-14368839 + LUAD-F00368 COSM391752 c.7419delC p.S2476fs*51 Deletion - Frameshift 5:14488047-14488047 + TCGA-AX-A0J1-01 COSM1063690 c.2391+1G>A p.? Unknown 5:14359532-14359532 + TCGA-F4-6856-01 COSM1434904 c.9105C>T p.P3035P Substitution - coding silent 5:14508233-14508233 + TCGA-AP-A0L9-01 COSM1063725 c.8300C>T p.S2767L Substitution - Missense 5:14498608-14498608 + TCGA-BR-8059-01 COSM3852356 c.3138G>T p.K1046N Substitution - Missense 5:14369445-14369445 + HN_62814 COSM129913 c.2092G>A p.V698M Substitution - Missense 5:14358223-14358223 + TCGA-EE-A3AB-06 COSM3919223 c.226C>T p.L76F Substitution - Missense 5:14270893-14270893 + TCGA-AA-A00N-01 COSM277811 c.8874C>T p.F2958F Substitution - coding silent 5:14508002-14508002 + I2L-P19Tb-Tumor-Organoid COSM5356662 c.6421C>T p.R2141W Substitution - Missense 5:14481574-14481574 + C135 COSM4618486 c.3642G>A p.A1214A Substitution - coding silent 5:14387509-14387509 + TCGA-HU-A4GT-01 COSM3852387 c.8502C>G p.R2834R Substitution - coding silent 5:14504483-14504483 + TCGA-D1-A15X-01 COSM1063668 c.906G>A p.A302A Substitution - coding silent 5:14291081-14291081 + PTC-10C COSM4159596 c.7296C>T p.A2432A Substitution - coding silent 5:14487924-14487924 + ME009T COSM222979 c.2582C>T p.A861V Substitution - Missense 5:14363922-14363922 + S02248 COSM5679752 c.6602T>G p.L2201R Substitution - Missense 5:14482718-14482718 + sysucc-1317T COSM5450091 c.6922A>G p.S2308G Substitution - Missense 5:14487550-14487550 + T3446 COSM4736294 c.8862G>A p.G2954G Substitution - coding silent 5:14507990-14507990 + Patient_1 COSM5413831 c.7819C>T p.P2607S Substitution - Missense 5:14492753-14492753 + SCC-15 COSM4590339 c.4828A>C p.T1610P Substitution - Missense 5:14405959-14405959 + 16246 COSM5615482 c.7051G>C p.V2351L Substitution - Missense 5:14487679-14487679 + TCGA-FW-A3R5-06 COSM3919235 c.8286C>T p.V2762V Substitution - coding silent 5:14498594-14498594 + TCGA-AX-A05Z-01 COSM1063701 c.3826C>T p.R1276* Substitution - Nonsense 5:14387792-14387792 + CCK81 COSM3209712 c.1672C>T p.R558C Substitution - Missense 5:14316684-14316684 + TCGA-EB-A44Q-06 COSM3611913 c.5997G>T p.M1999I Substitution - Missense 5:14474011-14474011 + HCC2998 COSM1671523 c.6224A>G p.Y2075C Substitution - Missense 5:14479331-14479331 + PAPNNX COSM5004825 c.1681C>T p.R561W Substitution - Missense 5:14316693-14316693 + CSCC-15-T COSM4531863 c.1831G>A p.E611K Substitution - Missense 5:14330877-14330877 + H1155 COSM1195899 c.4927C>T p.R1643W Substitution - Missense 5:14406640-14406640 + OSCC-GB_00980111 COSM4882070 c.6479C>A p.A2160D Substitution - Missense 5:14482595-14482595 + TCGA-CG-4305-01 COSM3852352 c.2444A>G p.D815G Substitution - Missense 5:14363784-14363784 + TCGA-CG-4442-01 COSM3852357 c.3365G>T p.R1122M Substitution - Missense 5:14378045-14378045 + YUROC COSM5402584 c.9119C>T p.S3040L Substitution - Missense 5:14508247-14508247 + 2011-2338:2012-306-T COSM4606266 c.2588-6C>A p.? Unknown 5:14364644-14364644 + TCGA-AA-3833-01 COSM271574 c.8964C>T p.G2988G Substitution - coding silent 5:14508092-14508092 + PD1403a COSM20793 c.4797A>G p.G1599G Substitution - coding silent 5:14405928-14405928 + TCGA-EL-A3MX-01 COSM3983976 c.1109T>C p.I370T Substitution - Missense 5:14293067-14293067 + CSCC-31-T COSM3209791 c.2816C>T p.S939L Substitution - Missense 5:14366921-14366921 + TCGA-BR-8363-01 COSM20978 c.8626C>T p.R2876C Substitution - Missense 5:14507135-14507135 + 255 COSM3732356 c.6069C>T p.Y2023Y Substitution - coding silent 5:14474083-14474083 + ESCC-F46 COSM5047846 c.6545G>A p.R2182H Substitution - Missense 5:14482661-14482661 + MZ7-mel COSM18254 c.158G>A p.G53E Substitution - Missense 5:14270825-14270825 + PTC-28C COSM449031 c.4398T>C p.D1466D Substitution - coding silent 5:14397129-14397129 + TCGA-AZ-4315-01 COSM1434833 c.234T>C p.G78G Substitution - coding silent 5:14280323-14280323 + TCGA-B0-4700-01 COSM482270 c.6153C>T p.H2051H Substitution - coding silent 5:14476963-14476963 + TCGA-HW-7495-01 COSM1063710 c.4931C>T p.T1644M Substitution - Missense 5:14406644-14406644 + ESCC-098T COSM3941159 c.3848A>G p.N1283S Substitution - Missense 5:14387814-14387814 + HCC83 COSM3661563 c.8332+10G>A p.? Unknown 5:14498650-14498650 + T2932 COSM1434868 c.7044delC p.V2351fs*62 Deletion - Frameshift 5:14487672-14487672 + HCC144T COSM3661561 c.7909C>T p.R2637C Substitution - Missense 5:14496907-14496907 + TCGA-AP-A056-01 COSM1063702 c.3951G>A p.T1317T Substitution - coding silent 5:14389291-14389291 + TCGA-D3-A2JO-06 COSM3611916 c.6629C>T p.P2210L Substitution - Missense 5:14482745-14482745 + 023-0056-01TD COSM5416691 c.7901C>T p.T2634I Substitution - Missense 5:14496899-14496899 + 234 COSM1288638 c.7043_7044insC p.V2351fs*90 Insertion - Frameshift 5:14487671-14487672 + LUAD-S01478 COSM399999 c.6629C>A p.P2210Q Substitution - Missense 5:14482745-14482745 + LUAD_E01086 COSM354788 c.9040G>A p.D3014N Substitution - Missense 5:14508168-14508168 + CHC892T COSM4959296 c.9170G>A p.S3057N Substitution - Missense 5:14508298-14508298 + TCGA-BQ-5876-01 COSM3994086 c.3527A>G p.Q1176R Substitution - Missense 5:14381209-14381209 + LUAD-S01315 COSM345717 c.2422G>T p.E808* Substitution - Nonsense 5:14363762-14363762 + SNUH_G76_S1 COSM3209795 c.2967C>T p.A989A Substitution - coding silent 5:14368800-14368800 + PD4137a COSM165153 c.1090C>G p.L364V Substitution - Missense 5:14293048-14293048 + T2944 COSM4736287 c.2978C>T p.A993V Substitution - Missense 5:14368811-14368811 + TCGA-EE-A3JH-06 COSM3611919 c.7479C>T p.P2493P Substitution - coding silent 5:14488107-14488107 + TCGA-DM-A1D6-01 COSM1434832 c.171C>T p.N57N Substitution - coding silent 5:14270838-14270838 + TCGA-E2-A159-01 COSM449032 c.4597T>C p.Y1533H Substitution - Missense 5:14399053-14399053 + pfg057T COSM1434852 c.3651delA p.K1219fs*43 Deletion - Frameshift 5:14387518-14387518 + DN12171 COSM5767641 c.3900C>G p.L1300L Substitution - coding silent 5:14388631-14388631 + TCGA-BS-A0UV-01 COSM1063703 c.4024G>T p.G1342* Substitution - Nonsense 5:14389364-14389364 + TCGA-GN-A268-06 COSM3209919 c.7490C>T p.P2497L Substitution - Missense 5:14488118-14488118 + ME049T COSM230057 c.6254A>G p.Q2085R Substitution - Missense 5:14479929-14479929 + T3049 COSM4613649 c.3650_3651insA p.C1220fs*7 Insertion - Frameshift 5:14387517-14387518 + S0057 COSM5884150 c.698G>A p.R233Q Substitution - Missense 5:14290873-14290873 + ESO-114 COSM1268604 c.6422G>A p.R2141Q Substitution - Missense 5:14481575-14481575 + D-542MG COSM20980 c.469_470insCCC p.A156_L157insP Insertion - In frame 5:14286992-14286993 + RK308_C01 COSM3768215 c.8064C>T p.V2688V Substitution - coding silent 5:14498105-14498105 + TCGA-AP-A056-01 COSM1063689 c.2383G>A p.A795T Substitution - Missense 5:14359523-14359523 + TCGA-EE-A2MC-06 COSM3611871 c.1461C>T p.H487H Substitution - coding silent 5:14304553-14304553 + NOKSI COSM4590339 c.4828A>C p.T1610P Substitution - Missense 5:14405959-14405959 + TCGA-BC-A10W-01 COSM4937222 c.5980-2A>G p.? Unknown 5:14473992-14473992 + I2L-P7-Tumor-Organoid COSM5356938 c.4813A>G p.I1605V Substitution - Missense 5:14405944-14405944 + 2521252 COSM5888890 c.9287G>A p.R3096K Substitution - Missense 5:14508415-14508415 + 385 COSM98119 c.3387G>A p.M1129I Substitution - Missense 5:14378067-14378067 + HCC079T COSM5807936 c.594A>T p.L198L Substitution - coding silent 5:14290769-14290769 + SW48 COSM3209802 c.3172C>T p.P1058S Substitution - Missense 5:14369479-14369479 + TARGET-30-PARDCK COSM1288637 c.3634G>T p.A1212S Substitution - Missense 5:14387501-14387501 + HCC100T COSM1619782 c.5708C>A p.T1903K Substitution - Missense 5:14465585-14465585 + PCSI_0083_Pa_X COSM3381147 c.3165C>T p.H1055H Substitution - coding silent 5:14369472-14369472 + HCC14T COSM1619787 c.8503G>T p.D2835Y Substitution - Missense 5:14504484-14504484 + T55 COSM4736291 c.6879delC p.G2294fs*119 Deletion - Frameshift 5:14487507-14487507 + TCGA-CA-6718-01 COSM1434860 c.5739T>G p.I1913M Substitution - Missense 5:14465616-14465616 + TCGA-FW-A3R5-06 COSM3919232 c.5710C>T p.P1904S Substitution - Missense 5:14465587-14465587 + TCGA-AZ-4315-01 COSM1434863 c.6234C>A p.T2078T Substitution - coding silent 5:14479341-14479341 + T3152 COSM1434868 c.7044delC p.V2351fs*62 Deletion - Frameshift 5:14487672-14487672 + sysucc-834T COSM4750232 c.1127A>G p.H376R Substitution - Missense 5:14293085-14293085 + sysucc-1240T COSM360003 c.6659T>G p.V2220G Substitution - Missense 5:14485070-14485070 + CSCC-56-T COSM4512243 c.8972C>T p.P2991L Substitution - Missense 5:14508100-14508100 + TCGA-BR-8487-01 COSM3852338 c.740C>T p.P247L Substitution - Missense 5:14290915-14290915 + TCGA-29-1777-01 COSM1329010 c.2116G>T p.V706L Substitution - Missense 5:14358247-14358247 + YURTHE COSM1695466 c.7837C>T p.H2613Y Substitution - Missense 5:14492771-14492771 + T3724 COSM4736288 c.4674G>A p.W1558* Substitution - Nonsense 5:14401022-14401022 + OPM2 COSM1236176 c.372C>A p.F124L Substitution - Missense 5:14286895-14286895 + TCGA-J9-A52C-01 COSM285966 c.8559C>T p.V2853V Substitution - coding silent 5:14504540-14504540 + TCGA-EE-A2GB-06 COSM3611869 c.326C>T p.S109F Substitution - Missense 5:14280415-14280415 + MX02 COSM360003 c.6659T>G p.V2220G Substitution - Missense 5:14485070-14485070 + TCGA-EE-A181-06 COSM3611914 c.6138C>T p.S2046S Substitution - coding silent 5:14476948-14476948 + RK119_C01 COSM3768213 c.1627G>A p.E543K Substitution - Missense 5:14316639-14316639 + PD4002a COSM165151 c.8003A>G p.N2668S Substitution - Missense 5:14497001-14497001 + 121 COSM1542406 c.6611A>G p.K2204R Substitution - Missense 5:14482727-14482727 + TCGA-HU-A4GQ-01 COSM3852375 c.7573C>T p.R2525C Substitution - Missense 5:14488201-14488201 + 833T COSM5824745 c.5274C>T p.I1758I Substitution - coding silent 5:14461089-14461089 + Pat_66_A COSM5867709 c.1420C>T p.P474S Substitution - Missense 5:14304512-14304512 + TCGA-AP-A059-01 COSM277811 c.8874C>T p.F2958F Substitution - coding silent 5:14508002-14508002 + TCGA-AY-6197-01 COSM1434867 c.6882C>G p.G2294G Substitution - coding silent 5:14487510-14487510 + HT115 COSM3209791 c.2816C>T p.S939L Substitution - Missense 5:14366921-14366921 + TCGA-F1-A448-01 COSM3852350 c.2307G>A p.S769S Substitution - coding silent 5:14359447-14359447 + 09-046A COSM305604 c.5135C>T p.P1712L Substitution - Missense 5:14419953-14419953 + TCGA-43-2578-01 COSM736526 c.6750T>G p.I2250M Substitution - Missense 5:14485161-14485161 + CSCC-18-T COSM1288636 c.3224C>T p.T1075I Substitution - Missense 5:14374236-14374236 + sysucc-783T COSM1434867 c.6882C>G p.G2294G Substitution - coding silent 5:14487510-14487510 + CHC892T COSM4794060 c.5668-1G>A p.? Unknown 5:14465544-14465544 + D-542MG COSM20980 c.469_470insCCC p.A156_L157insP Insertion - In frame 5:14286992-14286993 + TCGA-QB-A6FS-06 COSM3919227 c.2415G>A p.W805* Substitution - Nonsense 5:14363755-14363755 + LAU63 COSM235513 c.2577C>T p.V859V Substitution - coding silent 5:14363917-14363917 + ME024T COSM226127 c.6910G>A p.G2304R Substitution - Missense 5:14487538-14487538 + TCGA-61-1914-01 COSM1329008 c.3198G>C p.Q1066H Substitution - Missense 5:14369505-14369505 + TCGA-AA-A02Y-01 COSM301075 c.9218G>A p.R3073H Substitution - Missense 5:14508346-14508346 + LUAD-2GUGK COSM400640 c.5474C>T p.P1825L Substitution - Missense 5:14461289-14461289 + T2944 COSM4736285 c.1318C>T p.R440W Substitution - Missense 5:14297213-14297213 + WT009 COSM449031 c.4398T>C p.D1466D Substitution - coding silent 5:14397129-14397129 + Im95 COSM99028 c.4726A>G p.I1576V Substitution - Missense 5:14405857-14405857 + TCGA-G9-6499-01 COSM3674344 c.8842T>C p.Y2948H Substitution - Missense 5:14507970-14507970 + PTC-7C COSM4159595 c.5100A>C p.T1700T Substitution - coding silent 5:14419918-14419918 + TCGA-BR-4184-01 COSM3852354 c.2809G>A p.A937T Substitution - Missense 5:14366914-14366914 + PT48 COSM5867718 c.8309C>T p.S2770L Substitution - Missense 5:14498617-14498617 + 618-1503-04TD COSM146046 c.5945G>A p.R1982H Substitution - Missense 5:14472624-14472624 + CHC892T COSM4794715 c.1647G>A p.R549R Substitution - coding silent 5:14316659-14316659 + TCGA-D8-A27G-01 COSM3827305 c.6333G>A p.L2111L Substitution - coding silent 5:14480008-14480008 + Pat_22_B COSM5867713 c.4626G>T p.L1542F Substitution - Missense 5:14400974-14400974 + PT14_1 COSM5597759 c.7496C>T p.S2499F Substitution - Missense 5:14488124-14488124 + T3090 COSM1434868 c.7044delC p.V2351fs*62 Deletion - Frameshift 5:14487672-14487672 + S02273 COSM5682091 c.4830C>T p.T1610T Substitution - coding silent 5:14405961-14405961 + T3058 COSM4736286 c.1746C>T p.I582I Substitution - coding silent 5:14330792-14330792 + TCGA-BS-A0UV-01 COSM1063708 c.4750A>G p.K1584E Substitution - Missense 5:14405881-14405881 + PCSI_0019_Pa_X COSM3381148 c.4581G>A p.G1527G Substitution - coding silent 5:14399037-14399037 + TCGA-D7-A4YX-01 COSM3852339 c.881A>T p.K294I Substitution - Missense 5:14291056-14291056 + HCC33T COSM1619786 c.8333G>T p.G2778V Substitution - Missense 5:14502579-14502579 + TCGA-BG-A18B-01 COSM1063694 c.2964C>T p.C988C Substitution - coding silent 5:14368797-14368797 + T2664 COSM1063668 c.906G>A p.A302A Substitution - coding silent 5:14291081-14291081 + TCGA-19-5951 COSM2156630 c.5608C>G p.P1870A Substitution - Missense 5:14462866-14462866 + HCC1395 COSM20978 c.8626C>T p.R2876C Substitution - Missense 5:14507135-14507135 + LP6005500-DNA_E03 COSM5034645 c.7106C>T p.T2369M Substitution - Missense 5:14487734-14487734 + Pat_76_A COSM3661561 c.7909C>T p.R2637C Substitution - Missense 5:14496907-14496907 + BD72T COSM5512096 c.7239G>T p.K2413N Substitution - Missense 5:14487867-14487867 + PT49 COSM5935066 c.7881-6C>T p.? Unknown 5:14496873-14496873 + LS411 COSM3209702 c.987G>A p.W329* Substitution - Nonsense 5:14291162-14291162 + T2568 COSM4736284 c.965G>A p.R322Q Substitution - Missense 5:14291140-14291140 + ZZUFHECRKL-G034T COSM5440291 c.1871C>T p.A624V Substitution - Missense 5:14336552-14336552 + TCGA-A2-A0ET-01 COSM449036 c.8502C>T p.R2834R Substitution - coding silent 5:14504483-14504483 + TCGA-AR-A2LR-01 COSM3827301 c.2082G>T p.L694L Substitution - coding silent 5:14358213-14358213 + TCGA-B5-A0JY-01 COSM1063707 c.4704A>C p.K1568N Substitution - Missense 5:14401052-14401052 + TCGA-A6-6782-01 COSM1434899 c.8895C>T p.L2965L Substitution - coding silent 5:14508023-14508023 + 304_T COSM3947089 c.4844G>C p.R1615T Substitution - Missense 5:14405975-14405975 + TCGA-19-2624 COSM2156202 c.5594A>G p.D1865G Substitution - Missense 5:14462852-14462852 + 49M COSM5593592 c.7500C>T p.F2500F Substitution - coding silent 5:14488128-14488128 + BCM375T COSM4951026 c.7982A>T p.K2661M Substitution - Missense 5:14496980-14496980 + TCGA-EE-A29D-06 COSM3611918 c.7467C>T p.I2489I Substitution - coding silent 5:14488095-14488095 + CSCC-18-T COSM4505892 c.7050C>T p.P2350P Substitution - coding silent 5:14487678-14487678 + TARGET-30-PARJMX COSM1288636 c.3224C>T p.T1075I Substitution - Missense 5:14374236-14374236 + 2492729 COSM5726009 c.7366C>T p.P2456S Substitution - Missense 5:14487994-14487994 + 824_T COSM3947096 c.8927G>A p.W2976* Substitution - Nonsense 5:14508055-14508055 + LUAD-S01346 COSM397814 c.7194C>T p.D2398D Substitution - coding silent 5:14487822-14487822 + TCGA-BR-4184-01 COSM3852365 c.4634C>T p.T1545I Substitution - Missense 5:14400982-14400982 + 2492703 COSM5716425 c.5598C>T p.A1866A Substitution - coding silent 5:14462856-14462856 + TCGA-EE-A2A5-06 COSM3611922 c.7554C>T p.A2518A Substitution - coding silent 5:14488182-14488182 + TCGA-BR-7703-01 COSM3852371 c.6719C>T p.S2240L Substitution - Missense 5:14485130-14485130 + TCGA-AX-A05Z-01 COSM1063665 c.631G>A p.E211K Substitution - Missense 5:14290806-14290806 + RK223_C01 COSM4943633 c.1964G>A p.R655Q Substitution - Missense 5:14336645-14336645 + CHC1205T COSM4799774 c.951G>A p.R317R Substitution - coding silent 5:14291126-14291126 + D22 COSM3209793 c.2890G>A p.A964T Substitution - Missense 5:14368723-14368723 + TCGA-EB-A431-01 COSM3611917 c.6845C>T p.S2282L Substitution - Missense 5:14487473-14487473 + SJHGG014_D COSM4970091 c.2216+10A>T p.? Unknown 5:14358357-14358357 + TCGA-AA-A010-01 COSM285966 c.8559C>T p.V2853V Substitution - coding silent 5:14504540-14504540 + T578 COSM1063691 c.2448C>T p.F816F Substitution - coding silent 5:14363788-14363788 + PTC-10C COSM4159589 c.58G>C p.A20P Substitution - Missense 5:14143783-14143783 + S00941 COSM590387 c.8688G>T p.L2896L Substitution - coding silent 5:14507197-14507197 + T36 COSM4736290 c.5408G>A p.S1803N Substitution - Missense 5:14461223-14461223 + 587278 COSM1230434 c.3440C>T p.A1147V Substitution - Missense 5:14378120-14378120 + pfg019T COSM1642646 c.6449G>A p.R2150Q Substitution - Missense 5:14481602-14481602 + Pat_04_A COSM5867718 c.8309C>T p.S2770L Substitution - Missense 5:14498617-14498617 + TCGA-EE-A3JI-06 COSM1063667 c.817G>A p.E273K Substitution - Missense 5:14290992-14290992 + T3724 COSM4613649 c.3650_3651insA p.C1220fs*7 Insertion - Frameshift 5:14387517-14387518 + TCGA-FW-A3R5-06 COSM1063695 c.3016C>T p.R1006C Substitution - Missense 5:14368849-14368849 + TCGA-IZ-8195-01 COSM3994088 c.7909C>A p.R2637S Substitution - Missense 5:14496907-14496907 + MDA-MB-231 COSM1671522 c.1798C>G p.L600V Substitution - Missense 5:14330844-14330844 + LIM2405 COSM4613650 c.6469delA p.I2158fs*63 Deletion - Frameshift 5:14482585-14482585 + 66 COSM4777610 c.2063A>G p.E688G Substitution - Missense 5:14358194-14358194 + 255 COSM3732355 c.1599C>T p.A533A Substitution - coding silent 5:14316611-14316611 + RKO COSM3209969 c.9145T>C p.W3049R Substitution - Missense 5:14508273-14508273 + TCGA-G9-6329-01 COSM3674342 c.8413G>A p.G2805S Substitution - Missense 5:14504394-14504394 + cSCCP7 COSM139568 c.1972G>A p.D658N Substitution - Missense 5:14336653-14336653 + TCGA-22-5472-01 COSM736539 c.1851A>G p.A617A Substitution - coding silent 5:14330897-14330897 + TCGA-19-2624 COSM2156203 c.5593G>T p.D1865Y Substitution - Missense 5:14462851-14462851 + ESCC-F104 COSM5046787 c.4174G>C p.D1392H Substitution - Missense 5:14390946-14390946 + 141-02-3TD COSM5418716 c.6650G>A p.S2217N Substitution - Missense 5:14482766-14482766 + TCGA-EE-A3AA-06 COSM285967 c.9078C>T p.F3026F Substitution - coding silent 5:14508206-14508206 + Ad3 COSM4440965 c.1540C>T p.R514W Substitution - Missense 5:14316552-14316552 + TCGA-EV-5902-01 COSM3994087 c.5897C>T p.S1966F Substitution - Missense 5:14471451-14471451 + 2492702 COSM5716425 c.5598C>T p.A1866A Substitution - coding silent 5:14462856-14462856 + SCC-9 COSM4590339 c.4828A>C p.T1610P Substitution - Missense 5:14405959-14405959 + SWE-2A COSM1178197 c.4152C>A p.V1384V Substitution - coding silent 5:14390924-14390924 + 587234 COSM1230437 c.5359G>A p.G1787S Substitution - Missense 5:14461174-14461174 + PD4120a COSM165154 c.852G>A p.Q284Q Substitution - coding silent 5:14291027-14291027 + ESCC_35 COSM5628669 c.7731C>T p.V2577V Substitution - coding silent 5:14492665-14492665 + LUAD-RT-S01709 COSM379974 c.1363G>A p.E455K Substitution - Missense 5:14297258-14297258 + D21 COSM5007759 c.8146A>G p.I2716V Substitution - Missense 5:14498187-14498187 + CCK81 COSM1241852 c.6085delT p.L2031fs*1 Deletion - Frameshift 5:14476895-14476895 + B59-0-Tumor COSM1754092 c.7544G>A p.R2515H Substitution - Missense 5:14488172-14488172 + HCC160 COSM3661560 c.6419G>T p.R2140M Substitution - Missense 5:14481572-14481572 + TCGA-CG-4300-01 COSM3852355 c.2941G>A p.D981N Substitution - Missense 5:14368774-14368774 + TCGA-JX-A3Q0-01 COSM4824502 c.601G>A p.E201K Substitution - Missense 5:14290776-14290776 + HCC102 COSM1619779 c.2391C>T p.D797D Substitution - coding silent 5:14359531-14359531 + Gp5D COSM4629185 c.7265C>T p.A2422V Substitution - Missense 5:14487893-14487893 + CHC892T COSM4959296 c.9170G>A p.S3057N Substitution - Missense 5:14508298-14508298 + AOCS-116-1-3 COSM4141526 c.5873A>C p.E1958A Substitution - Missense 5:14471427-14471427 + T3024 COSM1434868 c.7044delC p.V2351fs*62 Deletion - Frameshift 5:14487672-14487672 + 3N31-VS-3T31 COSM4980682 c.3468C>T p.D1156D Substitution - coding silent 5:14381150-14381150 + 2293776 COSM4607891 c.1811G>T p.R604I Substitution - Missense 5:14330857-14330857 + TCGA-BS-A0TJ-01 COSM1063696 c.3126C>T p.G1042G Substitution - coding silent 5:14369433-14369433 + Gp2D COSM3209842 c.4283G>A p.R1428Q Substitution - Missense 5:14394102-14394102 + TCGA-61-1913-01 COSM1329009 c.3067-2A>T p.? Unknown 5:14369372-14369372 + BD121T COSM1063666 c.634G>T p.E212* Substitution - Nonsense 5:14290809-14290809 + TCGA-CG-5728-01 COSM3852367 c.5032C>T p.R1678* Substitution - Nonsense 5:14419850-14419850 + TCGA-BR-8360-01 COSM3852342 c.1338G>A p.M446I Substitution - Missense 5:14297233-14297233 + TCGA-D3-A1Q5-06 COSM3611921 c.7545C>T p.R2515R Substitution - coding silent 5:14488173-14488173 + Br04X COSM20980 c.469_470insCCC p.A156_L157insP Insertion - In frame 5:14286992-14286993 + TCGA-AD-6889-01 COSM1434847 c.2513T>C p.M838T Substitution - Missense 5:14363853-14363853 + BHY COSM1642646 c.6449G>A p.R2150Q Substitution - Missense 5:14481602-14481602 + TCGA-AP-A0LM-01 COSM1063672 c.1301C>T p.A434V Substitution - Missense 5:14297196-14297196 + S02248 COSM5679751 c.5802delG p.G1935fs*33 Deletion - Frameshift 5:14471356-14471356 + CSCC-11-T COSM4451900 c.1470A>G p.I490M Substitution - Missense 5:14304562-14304562 + LUAD-YINHD COSM351165 c.7678C>T p.H2560Y Substitution - Missense 5:14492612-14492612 + 7 COSM5732412 c.4860-1G>C p.? Unknown 5:14406572-14406572 + 2530678 COSM3919228 c.2796C>T p.A932A Substitution - coding silent 5:14366901-14366901 + HCC160T COSM3661556 c.1418T>C p.L473P Substitution - Missense 5:14304510-14304510 + TCGA-19-2624 COSM2156214 c.5588G>T p.G1863V Substitution - Missense 5:14462846-14462846 + 2318496 COSM1063690 c.2391+1G>A p.? Unknown 5:14359532-14359532 + ESCC-D14 COSM5045424 c.3221G>T p.C1074F Substitution - Missense 5:14374233-14374233 + TCGA-F5-6814-01 COSM277811 c.8874C>T p.F2958F Substitution - coding silent 5:14508002-14508002 + CR007 COSM4994533 c.6825delT p.L2277fs*1 Deletion - Frameshift 5:14485236-14485236 + ACINAR28 COSM1733316 c.8063T>C p.V2688A Substitution - Missense 5:14498104-14498104 + HCC100 COSM1619782 c.5708C>A p.T1903K Substitution - Missense 5:14465585-14465585 + BD22T COSM5508819 c.5320C>T p.R1774C Substitution - Missense 5:14461135-14461135 + TCGA-E9-A5UP-01 COSM3827302 c.2186A>G p.K729R Substitution - Missense 5:14358317-14358317 + CSCC-11-T COSM4561984 c.9072G>A p.K3024K Substitution - coding silent 5:14508200-14508200 + LUAD-RT-S01813 COSM392296 c.7797delC p.A2601fs*38 Deletion - Frameshift 5:14492731-14492731 + TCGA-39-5031-01 COSM736525 c.7463C>G p.S2488C Substitution - Missense 5:14488091-14488091 + cSCCP4 COSM138473 c.7133C>T p.P2378L Substitution - Missense 5:14487761-14487761 + TCGA-BS-A0UV-01 COSM1063715 c.5834C>T p.S1945L Substitution - Missense 5:14471388-14471388 + TCGA-FW-A3R5-06 COSM3919237 c.9238C>T p.R3080* Substitution - Nonsense 5:14508366-14508366 + TCGA-BT-A20J-01 COSM420851 c.5977G>A p.E1993K Substitution - Missense 5:14472656-14472656 + TCGA-EB-A44Q-06 COSM3209866 c.5957G>A p.R1986Q Substitution - Missense 5:14472636-14472636 + RK207_C01 COSM3768214 c.3811T>A p.S1271T Substitution - Missense 5:14387777-14387777 + B68-Tumor COSM4005945 c.7474T>C p.S2492P Substitution - Missense 5:14488102-14488102 + HT115 COSM1063691 c.2448C>T p.F816F Substitution - coding silent 5:14363788-14363788 + TCGA-EE-A2GO-06 COSM3611868 c.317G>A p.R106K Substitution - Missense 5:14280406-14280406 + TCGA-18-3409-01 COSM736548 c.351G>A p.E117E Substitution - coding silent 5:14286874-14286874 + TARGET-30-PASTKC COSM1288635 c.582T>G p.D194E Substitution - Missense 5:14290757-14290757 + CSCC-40-T COSM4449392 c.2191delG p.E732fs*82 Deletion - Frameshift 5:14358322-14358322 + BD121T COSM285967 c.9078C>T p.F3026F Substitution - coding silent 5:14508206-14508206 + TCGA-BR-7197-01 COSM285966 c.8559C>T p.V2853V Substitution - coding silent 5:14504540-14504540 + 618 COSM146046 c.5945G>A p.R1982H Substitution - Missense 5:14472624-14472624 + TCGA-66-2791-01 COSM736546 c.1279G>C p.E427Q Substitution - Missense 5:14297174-14297174 + MO_1008 COSM5569435 c.6281C>G p.T2094R Substitution - Missense 5:14479956-14479956 + TCGA-AP-A051-01 COSM1063673 c.1702C>A p.L568M Substitution - Missense 5:14316714-14316714 + DLD1 COSM3209688 c.288T>C p.H96H Substitution - coding silent 5:14280377-14280377 + 2521260 COSM1695465 c.5776C>T p.R1926C Substitution - Missense 5:14471330-14471330 + TCGA-A3-3387-01 COSM482268 c.2567T>G p.V856G Substitution - Missense 5:14363907-14363907 + TCGA-AA-A010-01 COSM174878 c.1981C>T p.R661W Substitution - Missense 5:14336662-14336662 + HCC107 COSM1619784 c.6560G>T p.R2187L Substitution - Missense 5:14482676-14482676 + J80_T COSM3947092 c.7945G>T p.G2649C Substitution - Missense 5:14496943-14496943 + PTC-14C COSM4159593 c.1953G>T p.Q651H Substitution - Missense 5:14336634-14336634 + STC252 COSM1063702 c.3951G>A p.T1317T Substitution - coding silent 5:14389291-14389291 + TCGA-OL-A5DA-01 COSM3827312 c.8654G>A p.G2885E Substitution - Missense 5:14507163-14507163 + LIM2405 COSM4613649 c.3650_3651insA p.C1220fs*7 Insertion - Frameshift 5:14387517-14387518 + MO_1012 COSM5554304 c.1977C>T p.F659F Substitution - coding silent 5:14336658-14336658 + TCGA-AP-A056-01 COSM1063705 c.4504C>T p.R1502* Substitution - Nonsense 5:14398960-14398960 + TCGA-CJ-4641-01 COSM1137269 c.5979+2T>C p.? Unknown 5:14472660-14472660 + TCGA-AD-6889-01 COSM1434845 c.2091C>T p.D697D Substitution - coding silent 5:14358222-14358222 + TCGA-A5-A0VQ-01 COSM1063723 c.7972G>A p.G2658S Substitution - Missense 5:14496970-14496970 + TCGA-HU-A4GU-01 COSM3852370 c.5578G>T p.G1860C Substitution - Missense 5:14462836-14462836 + LUAD-B00416 COSM331448 c.9016C>T p.R3006C Substitution - Missense 5:14508144-14508144 + TCGA-D8-A1JG-01 COSM1486457 c.2424G>A p.E808E Substitution - coding silent 5:14363764-14363764 + CRC-13T COSM5479371 c.1677G>A p.K559K Substitution - coding silent 5:14316689-14316689 + SNU-175 COSM3209840 c.4204G>T p.G1402W Substitution - Missense 5:14390976-14390976 + LUAD-CHTN-MAD06-00668 COSM360003 c.6659T>G p.V2220G Substitution - Missense 5:14485070-14485070 + TCGA-D1-A17D-01 COSM1063722 c.7955A>G p.E2652G Substitution - Missense 5:14496953-14496953 + TCGA-A3-3387-01 COSM482272 c.8012C>A p.S2671Y Substitution - Missense 5:14497010-14497010 + TCGA-G9-6333-01 COSM3674339 c.2410T>G p.S804A Substitution - Missense 5:14363750-14363750 + TCGA-BR-4370-01 COSM3852351 c.2406C>T p.L802L Substitution - coding silent 5:14363746-14363746 + HCC83T COSM3661563 c.8332+10G>A p.? Unknown 5:14498650-14498650 + ESO-2472 COSM1268607 c.1074C>A p.H358Q Substitution - Missense 5:14293032-14293032 + 587298 COSM1230440 c.5777G>A p.R1926H Substitution - Missense 5:14471331-14471331 + LUAD-B00915 COSM332987 c.9015C>T p.C3005C Substitution - coding silent 5:14508143-14508143 + 1_PRE-TREATMENT COSM1720776 c.6470A>G p.K2157R Substitution - Missense 5:14482586-14482586 + TCGA-IR-A3LK-01 COSM4817742 c.5549C>T p.S1850L Substitution - Missense 5:14462807-14462807 + pfg017T COSM1642645 c.3571-10_3571-9insT p.? Unknown 5:14387428-14387429 + TCGA-B5-A11E-01 COSM1063706 c.4520G>A p.R1507Q Substitution - Missense 5:14398976-14398976 + I2L-P14b-Tumor-Biopsy COSM5356437 c.5063G>A p.R1688Q Substitution - Missense 5:14419881-14419881 + TCGA-AP-A059-01 COSM1063692 c.2629C>T p.R877W Substitution - Missense 5:14364691-14364691 + LC_C14 COSM1186745 c.4054A>C p.N1352H Substitution - Missense 5:14389394-14389394 + TCGA-25-2392-01 COSM73068 c.5013C>G p.N1671K Substitution - Missense 5:14419831-14419831 + TCGA-HJ-7597-01 COSM3852363 c.3976G>A p.V1326M Substitution - Missense 5:14389316-14389316 + TCGA-EE-A3JD-06 COSM4394491 c.8030C>T p.P2677L Substitution - Missense 5:14497857-14497857 + TCGA-KK-A59V-01 COSM4878787 c.2776G>A p.G926R Substitution - Missense 5:14366881-14366881 + 255 COSM3732072 c.6020A>G p.D2007G Substitution - Missense 5:14474034-14474034 + TCGA-EE-A3JH-06 COSM3611920 c.7543C>T p.R2515C Substitution - Missense 5:14488171-14488171 + TCGA-AX-A06H-01 COSM1063688 c.2366G>A p.R789H Substitution - Missense 5:14359506-14359506 + KM12 COSM3209856 c.5106C>T p.D1702D Substitution - coding silent 5:14419924-14419924 + TCGA-FD-A3B6-01 COSM1310810 c.3620G>C p.C1207S Substitution - Missense 5:14387487-14387487 + 587268 COSM1230430 c.3869C>T p.A1290V Substitution - Missense 5:14387835-14387835 + TCGA-AA-A010-01 COSM285967 c.9078C>T p.F3026F Substitution - coding silent 5:14508206-14508206 + TCGA-CD-A4MG-01 COSM3661560 c.6419G>T p.R2140M Substitution - Missense 5:14481572-14481572 + PT21_2 COSM5867707 c.343C>T p.P115S Substitution - Missense 5:14280432-14280432 + TCGA-BS-A0UA-01 COSM1063676 c.1985G>A p.R662H Substitution - Missense 5:14336666-14336666 + 783_T COSM3947087 c.1993C>A p.Q665K Substitution - Missense 5:14336674-14336674 + U343 COSM5712305 c.7953G>A p.R2651R Substitution - coding silent 5:14496951-14496951 + pfg103T COSM3919237 c.9238C>T p.R3080* Substitution - Nonsense 5:14508366-14508366 + sysucc-1972T COSM5480480 c.5724G>A p.E1908E Substitution - coding silent 5:14465601-14465601 + TCGA-D3-A2JO-06 COSM3209842 c.4283G>A p.R1428Q Substitution - Missense 5:14394102-14394102 + 421 COSM4432235 c.3755C>G p.S1252C Substitution - Missense 5:14387622-14387622 + S01524 COSM5669367 c.1026G>C p.L342L Substitution - coding silent 5:14291201-14291201 + TCGA-A8-A07R-01 COSM449035 c.7800C>G p.P2600P Substitution - coding silent 5:14492734-14492734 + TCGA-CU-A3YL-01 COSM3776390 c.2073G>A p.Q691Q Substitution - coding silent 5:14358204-14358204 + I2L-P10-Tumor-Organoid COSM5356407 c.3736C>A p.L1246M Substitution - Missense 5:14387603-14387603 + A7 COSM5351166 c.3142G>T p.G1048C Substitution - Missense 5:14369449-14369449 + TCGA-46-3768-01 COSM736521 c.8684A>T p.H2895L Substitution - Missense 5:14507193-14507193 + PR-2661 COSM247998 c.3777C>G p.L1259L Substitution - coding silent 5:14387743-14387743 + ZZUFHECRKL-G054T COSM5445438 c.5118G>A p.A1706A Substitution - coding silent 5:14419936-14419936 + 134413 COSM326763 c.4741G>A p.D1581N Substitution - Missense 5:14405872-14405872 + HCC1395 COSM20978 c.8626C>T p.R2876C Substitution - Missense 5:14507135-14507135 + TCGA-CG-4442-01 COSM3852383 c.8276G>A p.C2759Y Substitution - Missense 5:14498584-14498584 + LUAD-E01278 COSM394301 c.4859+1G>T p.? Unknown 5:14405991-14405991 + CHC1205T COSM4799774 c.951G>A p.R317R Substitution - coding silent 5:14291126-14291126 + ME100L COSM231052 c.2099C>T p.A700V Substitution - Missense 5:14358230-14358230 + 3_RESISTANT COSM1723823 c.7206C>T p.S2402S Substitution - coding silent 5:14487834-14487834 + J46_T COSM3947090 c.5817C>G p.S1939R Substitution - Missense 5:14471371-14471371 + CHC1040T COSM4799531 c.1982G>C p.R661P Substitution - Missense 5:14336663-14336663 + D-542MG COSM20980 c.469_470insCCC p.A156_L157insP Insertion - In frame 5:14286992-14286993 + HT55 COSM3209898 c.6822C>A p.R2274R Substitution - coding silent 5:14485233-14485233 + BCM375T COSM4951026 c.7982A>T p.K2661M Substitution - Missense 5:14496980-14496980 + TCGA-CM-6171-01 COSM1434837 c.1660A>G p.I554V Substitution - Missense 5:14316672-14316672 + TCGA-DI-A0WH-01 COSM1063710 c.4931C>T p.T1644M Substitution - Missense 5:14406644-14406644 + NB-0505 COSM1288638 c.7043_7044insC p.V2351fs*90 Insertion - Frameshift 5:14487671-14487672 + TCGA-BR-7851-01 COSM301075 c.9218G>A p.R3073H Substitution - Missense 5:14508346-14508346 + LUAD-S01315 COSM345718 c.3279G>T p.V1093V Substitution - coding silent 5:14374291-14374291 + TCGA-BR-6565-01 COSM3852373 c.6733G>A p.V2245M Substitution - Missense 5:14485144-14485144 + ESCC-F2 COSM5047287 c.5567G>C p.G1856A Substitution - Missense 5:14462825-14462825 + TCGA-BR-8382-01 COSM3852385 c.8291A>C p.D2764A Substitution - Missense 5:14498599-14498599 + LUAD-F00368 COSM341411 c.1853A>G p.Q618R Substitution - Missense 5:14330899-14330899 + TCGA-CM-6162-01 COSM1434834 c.1296G>A p.A432A Substitution - coding silent 5:14297191-14297191 + J52_T COSM3947091 c.6463G>T p.D2155Y Substitution - Missense 5:14481616-14481616 + HX35T COSM3661555 c.411C>T p.S137S Substitution - coding silent 5:14286934-14286934 + TCGA-FW-A3R5-06 COSM3919233 c.7662C>T p.S2554S Substitution - coding silent 5:14492596-14492596 + C086 COSM5540833 c.5844C>T p.S1948S Substitution - coding silent 5:14471398-14471398 + LUAD-B02216 COSM335682 c.3315T>A p.P1105P Substitution - coding silent 5:14374327-14374327 + TCGA-BS-A0TJ-01 COSM1063724 c.8084C>T p.T2695M Substitution - Missense 5:14498125-14498125 + TCGA-CA-6717-01 COSM1434854 c.4664T>C p.F1555S Substitution - Missense 5:14401012-14401012 + TCGA-AP-A059-01 COSM1063704 c.4322C>T p.T1441M Substitution - Missense 5:14397053-14397053 + KM12 COSM3209871 c.6171G>A p.M2057I Substitution - Missense 5:14479278-14479278 + CSCC-16-T COSM4496807 c.4830C>A p.T1610T Substitution - coding silent 5:14405961-14405961 + TCGA-D1-A101-01 COSM1063714 c.5580C>T p.G1860G Substitution - coding silent 5:14462838-14462838 + HCC7T COSM1619783 c.6153+10A>G p.? Unknown 5:14476973-14476973 + OSCC-GB_01060111 COSM4882637 c.3226C>A p.L1076I Substitution - Missense 5:14374238-14374238 + TCGA-B5-A11J-01 COSM1063728 c.8533C>T p.Q2845* Substitution - Nonsense 5:14504514-14504514 + TCGA-AP-A0LM-01 COSM1063701 c.3826C>T p.R1276* Substitution - Nonsense 5:14387792-14387792 + TCGA-C8-A275-01 COSM1486455 c.643G>A p.E215K Substitution - Missense 5:14290818-14290818 + T1194 COSM4736282 c.298C>T p.R100* Substitution - Nonsense 5:14280387-14280387 + CSCC-40-T COSM4554677 c.6283G>T p.D2095Y Substitution - Missense 5:14479958-14479958 + HCT15 COSM3209688 c.288T>C p.H96H Substitution - coding silent 5:14280377-14280377 + BD124T COSM341411 c.1853A>G p.Q618R Substitution - Missense 5:14330899-14330899 + MZ7-mel COSM20981 c.5932G>A p.V1978M Substitution - Missense 5:14472611-14472611 + TCGA-FS-A1ZA-06 COSM3611910 c.5552G>A p.G1851E Substitution - Missense 5:14462810-14462810 + HCC154 COSM3661559 c.5609C>T p.P1870L Substitution - Missense 5:14462867-14462867 + I2L-P14b-Tumor-Organoid COSM5356437 c.5063G>A p.R1688Q Substitution - Missense 5:14419881-14419881 + PD2006a COSM20982 c.8561delG p.G2854fs*16 Deletion - Frameshift 5:14504542-14504542 + TCGA-EI-6917-01 COSM1063691 c.2448C>T p.F816F Substitution - coding silent 5:14363788-14363788 + ATL013 COSM5709545 c.7150G>A p.E2384K Substitution - Missense 5:14487778-14487778 + HCC170T COSM3661557 c.1482C>T p.I494I Substitution - coding silent 5:14304574-14304574 + HCT8 COSM3209688 c.288T>C p.H96H Substitution - coding silent 5:14280377-14280377 + ESCC-F104 COSM5046786 c.4132G>C p.D1378H Substitution - Missense 5:14390904-14390904 + TCGA-AN-A046-01 COSM3827298 c.612C>T p.G204G Substitution - coding silent 5:14290787-14290787 + PD1520a COSM20792 c.9125C>T p.A3042V Substitution - Missense 5:14508253-14508253 + TCGA-G4-6588-01 COSM1434868 c.7044delC p.V2351fs*62 Deletion - Frameshift 5:14487672-14487672 + TCGA-ER-A19H-06 COSM3611870 c.1442A>G p.E481G Substitution - Missense 5:14304534-14304534 + S00472 COSM5657918 c.7510G>T p.G2504W Substitution - Missense 5:14488138-14488138 + TCGA-AC-A23C-01 COSM1486456 c.2122G>C p.D708H Substitution - Missense 5:14358253-14358253 + ESO-0292 COSM1241852 c.6085delT p.L2031fs*1 Deletion - Frameshift 5:14476895-14476895 + sysucc-882T COSM5447629 c.8996A>C p.E2999A Substitution - Missense 5:14508124-14508124 + BK0006 COSM4189160 c.5535_5536insA p.S1847fs*42 Insertion - Frameshift 5:14462793-14462794 + PCSI_0127_Pa_P COSM3381045 c.550G>T p.V184F Substitution - Missense 5:14290725-14290725 + 4_PRE-TREATMENT COSM1724361 c.3140_3141insG p.N1050fs*3 Insertion - Frameshift 5:14369447-14369448 + 8057700 COSM3393309 c.7880+7G>A p.? Unknown 5:14492821-14492821 + TCGA-AP-A0LM-01 COSM1063719 c.6328T>G p.L2110V Substitution - Missense 5:14480003-14480003 + 2011-2269:2012-1328-T COSM4604528 c.175G>C p.E59Q Substitution - Missense 5:14270842-14270842 + TCGA-ED-A66Y-01 COSM4926449 c.164G>A p.R55Q Substitution - Missense 5:14270831-14270831 + S02328 COSM5692137 c.4188G>A p.L1396L Substitution - coding silent 5:14390960-14390960 + 541 COSM5612453 c.4211A>G p.Y1404C Substitution - Missense 5:14390983-14390983 + 587224 COSM1230432 c.7487G>A p.R2496Q Substitution - Missense 5:14488115-14488115 + TCGA-D7-6526-01 COSM3852341 c.949C>T p.R317W Substitution - Missense 5:14291124-14291124 + 66 COSM5743061 c.2795C>T p.A932V Substitution - Missense 5:14366900-14366900 + 2290930 COSM4440040 c.3627A>G p.K1209K Substitution - coding silent 5:14387494-14387494 + S02400 COSM5699912 c.3274A>T p.S1092C Substitution - Missense 5:14374286-14374286 + TCGA-BS-A0UF-01 COSM1063721 c.6582C>T p.I2194I Substitution - coding silent 5:14482698-14482698 + YUFERY COSM5402579 c.4578T>C p.S1526S Substitution - coding silent 5:14399034-14399034 + PT37 COSM5918838 c.4891G>A p.G1631S Substitution - Missense 5:14406604-14406604 + BD246T COSM5496111 c.2439G>T p.M813I Substitution - Missense 5:14363779-14363779 + EGC20 COSM5060809 c.5850C>G p.L1950L Substitution - coding silent 5:14471404-14471404 + PCSI_0547_Pa_P_526 COSM5031965 c.1011C>G p.D337E Substitution - Missense 5:14291186-14291186 + J83_T COSM3947094 c.8622G>A p.Q2874Q Substitution - coding silent 5:14507131-14507131 + BHY COSM4590339 c.4828A>C p.T1610P Substitution - Missense 5:14405959-14405959 + HCC144 COSM3661561 c.7909C>T p.R2637C Substitution - Missense 5:14496907-14496907 + TCGA-BC-A10W-01 COSM4937223 c.8391T>C p.S2797S Substitution - coding silent 5:14502637-14502637 + I2L-P19Tb-Tumor-Biopsy COSM5356662 c.6421C>T p.R2141W Substitution - Missense 5:14481574-14481574 + TCGA-AB-2849-03 COSM1319248 c.392G>A p.R131H Substitution - Missense 5:14286915-14286915 + ESCC_BICR_017T COSM5442940 c.7543C>A p.R2515S Substitution - Missense 5:14488171-14488171 + WSU-HN12 COSM4590339 c.4828A>C p.T1610P Substitution - Missense 5:14405959-14405959 + TCGA-AA-3681-01 COSM268097 c.2089G>A p.D697N Substitution - Missense 5:14358220-14358220 + HCT8 COSM4635215 c.8101A>G p.T2701A Substitution - Missense 5:14498142-14498142 + PCSI_0210_Pa_P_526 COSM4964397 c.7632+7G>A p.? Unknown 5:14488267-14488267 + ESCC_BICR_053T COSM3611869 c.326C>T p.S109F Substitution - Missense 5:14280415-14280415 + TCGA-J8-A3O1-01 COSM1063672 c.1301C>T p.A434V Substitution - Missense 5:14297196-14297196 + TCGA-61-1737-01 COSM1329007 c.4926A>G p.S1642S Substitution - coding silent 5:14406639-14406639 + ESCC-F79 COSM5048659 c.7979G>A p.R2660Q Substitution - Missense 5:14496977-14496977 + S02255 COSM5680842 c.7283C>T p.S2428L Substitution - Missense 5:14487911-14487911 + ESCC_BICR_060T COSM5435115 c.6548G>A p.C2183Y Substitution - Missense 5:14482664-14482664 + Pat_24_A COSM5867706 c.247C>T p.R83C Substitution - Missense 5:14280336-14280336 + TCGA-AM-5820-01 COSM1288638 c.7043_7044insC p.V2351fs*90 Insertion - Frameshift 5:14487671-14487672 + TCGA-AO-A128-01 COSM3827306 c.6457G>T p.G2153* Substitution - Nonsense 5:14481610-14481610 + TCGA-70-6722-01 COSM736537 c.1930G>C p.E644Q Substitution - Missense 5:14336611-14336611 + P04-2599 COSM247999 c.429G>C p.K143N Substitution - Missense 5:14286952-14286952 + HCC93 COSM3661558 c.5389G>A p.A1797T Substitution - Missense 5:14461204-14461204 + 10748 COSM3728366 c.8120G>A p.R2707Q Substitution - Missense 5:14498161-14498161 + TCGA-BL-A3JM-01 COSM1310813 c.8627G>A p.R2876H Substitution - Missense 5:14507136-14507136 + PTC-10C COSM4159588 c.42C>G p.S14S Substitution - coding silent 5:14143767-14143767 + 93VU147T COSM4590339 c.4828A>C p.T1610P Substitution - Missense 5:14405959-14405959 + 587376 COSM1230439 c.511A>C p.N171H Substitution - Missense 5:14287034-14287034 + LUAD-RT-S01774 COSM381555 c.2077G>T p.E693* Substitution - Nonsense 5:14358208-14358208 + TCGA-K4-A3WS-01 COSM3776392 c.4498T>G p.L1500V Substitution - Missense 5:14398954-14398954 + BN30T COSM1619788 c.8634G>A p.L2878L Substitution - coding silent 5:14507143-14507143 + T469 COSM3852373 c.6733G>A p.V2245M Substitution - Missense 5:14485144-14485144 + TCGA-B5-A11E-01 COSM1063670 c.1200C>T p.R400R Substitution - coding silent 5:14297095-14297095 + CRC-03T COSM5451808 c.2587+8G>T p.? Unknown 5:14363935-14363935 + PTC-10C COSM4159591 c.1521G>A p.S507S Substitution - coding silent 5:14316533-14316533 + TCGA-DA-A1IC-06 COSM3611911 c.5579G>A p.G1860D Substitution - Missense 5:14462837-14462837 + TCGA-EE-A20C-06 COSM3611885 c.3153T>A p.S1051S Substitution - coding silent 5:14369460-14369460 + TCGA-IR-A3LK-01 COSM4817407 c.8673G>C p.K2891N Substitution - Missense 5:14507182-14507182 + D-542MG COSM20980 c.469_470insCCC p.A156_L157insP Insertion - In frame 5:14286992-14286993 + 2492729 COSM5726008 c.6324G>A p.Q2108Q Substitution - coding silent 5:14479999-14479999 + BD104T COSM5490731 c.5038G>A p.G1680S Substitution - Missense 5:14419856-14419856 + T3225 COSM4736292 c.6983G>A p.G2328D Substitution - Missense 5:14487611-14487611 + sysucc-774T COSM3209897 c.6821G>A p.R2274H Substitution - Missense 5:14485232-14485232 + TCGA-FP-A4BE-01 COSM3852372 c.6725C>T p.T2242M Substitution - Missense 5:14485136-14485136 + C0023T COSM4155537 c.6360G>C p.K2120N Substitution - Missense 5:14481257-14481257 + PCSI_0233_Pa_P_526 COSM4961857 c.1482C>A p.I494I Substitution - coding silent 5:14304574-14304574 + PT35 COSM5912360 c.271C>T p.P91S Substitution - Missense 5:14280360-14280360 + GC9_T COSM150899 c.4397delA p.D1466fs*35 Deletion - Frameshift 5:14397128-14397128 + MZ7-mel COSM20981 c.5932G>A p.V1978M Substitution - Missense 5:14472611-14472611 + TCGA-D1-A16Y-01 COSM1063669 c.1163C>G p.A388G Substitution - Missense 5:14293121-14293121 + TCGA-D1-A103-01 COSM1063720 c.6559C>T p.R2187C Substitution - Missense 5:14482675-14482675 + TCGA-D9-A6EC-06 COSM4405944 c.7470C>T p.P2490P Substitution - coding silent 5:14488098-14488098 + TCGA-A6-5665-01 COSM1434851 c.3630G>A p.G1210G Substitution - coding silent 5:14387497-14387497 + SWE-49 COSM1180206 c.3159G>A p.T1053T Substitution - coding silent 5:14369466-14369466 + ME009T COSM222980 c.3643G>A p.A1215T Substitution - Missense 5:14387510-14387510 + 2521262 COSM5891898 c.4916C>T p.S1639F Substitution - Missense 5:14406629-14406629 + PT38 COSM5922484 c.9203C>T p.S3068F Substitution - Missense 5:14508331-14508331 + RKO COSM3209779 c.2332C>T p.R778C Substitution - Missense 5:14359472-14359472 + HCC160 COSM3661556 c.1418T>C p.L473P Substitution - Missense 5:14304510-14304510 + TCGA-BR-7851-01 COSM3852381 c.8213A>G p.D2738G Substitution - Missense 5:14498521-14498521 + TCGA-AG-A002-01 COSM264200 c.840G>A p.Q280Q Substitution - coding silent 5:14291015-14291015 + SNU-C4 COSM4653903 c.5095C>T p.R1699W Substitution - Missense 5:14419913-14419913 + 3N40-VS-3T40 COSM4981695 c.3177G>T p.M1059I Substitution - Missense 5:14369484-14369484 + TCGA-BR-A4QL-01 COSM3852340 c.925C>T p.P309S Substitution - Missense 5:14291100-14291100 + TCGA-19-5951-01 COSM2156630 c.5608C>G p.P1870A Substitution - Missense 5:14462866-14462866 + TCGA-25-1630-01 COSM117412 c.6528T>A p.D2176E Substitution - Missense 5:14482644-14482644 + TCGA-19-2624 COSM2156201 c.5595C>T p.D1865D Substitution - coding silent 5:14462853-14462853 + HCC170 COSM3661557 c.1482C>T p.I494I Substitution - coding silent 5:14304574-14304574 + HCC2998 COSM1671523 c.6224A>G p.Y2075C Substitution - Missense 5:14479331-14479331 + TCGA-76-6192-01 COSM3409964 c.3997A>G p.I1333V Substitution - Missense 5:14389337-14389337 + TCGA-BR-7703-01 COSM3209958 c.8503G>A p.D2835N Substitution - Missense 5:14504484-14504484 + TCGA-G4-6299-01 COSM1434848 c.3082delG p.E1028fs*29 Deletion - Frameshift 5:14369389-14369389 + UD-SCC-2 COSM4590339 c.4828A>C p.T1610P Substitution - Missense 5:14405959-14405959 + LUAD-CHTN-3090346 COSM357012 c.4890C>T p.D1630D Substitution - coding silent 5:14406603-14406603 + TCGA-BP-4789-01 COSM3365764 c.2655T>A p.L885L Substitution - coding silent 5:14364717-14364717 + LUAD-D02185 COSM338772 c.4627G>T p.G1543C Substitution - Missense 5:14400975-14400975 + TCGA-AR-A251-01 COSM1486458 c.8319C>A p.S2773R Substitution - Missense 5:14498627-14498627 + LN229 COSM3209957 c.8407G>A p.G2803S Substitution - Missense 5:14502653-14502653 + LOVO COSM1241852 c.6085delT p.L2031fs*1 Deletion - Frameshift 5:14476895-14476895 + 8033523 COSM3393307 c.5036G>A p.R1679Q Substitution - Missense 5:14419854-14419854 + TCGA-AM-5820-01 COSM3697055 c.1745T>A p.I582N Substitution - Missense 5:14330791-14330791 + BD6T COSM5498901 c.5291C>T p.P1764L Substitution - Missense 5:14461106-14461106 + TCGA-FP-A4BE-01 COSM3852362 c.3783A>T p.L1261L Substitution - coding silent 5:14387749-14387749 + PD8965a COSM5802562 c.6336+6_6336+49>41 p.? Unknown 5:14480017-14480060 + CSCC-27-T COSM4506514 c.7227C>T p.I2409I Substitution - coding silent 5:14487855-14487855 + CLL165 COSM1292049 c.9191C>T p.S3064F Substitution - Missense 5:14508319-14508319 + TCGA-EE-A3AA-06 COSM3611895 c.3697C>T p.L1233L Substitution - coding silent 5:14387564-14387564 + TCGA-AD-6964-01 COSM1434846 c.2100C>T p.A700A Substitution - coding silent 5:14358231-14358231 + TCGA-EB-A553-01 COSM3611926 c.8820T>G p.A2940A Substitution - coding silent 5:14507948-14507948 + ICC014T COSM5823601 c.6915T>G p.G2305G Substitution - coding silent 5:14487543-14487543 + 54 COSM5734911 c.9178G>A p.V3060I Substitution - Missense 5:14508306-14508306 + TCGA-AP-A05N-01 COSM1063676 c.1985G>A p.R662H Substitution - Missense 5:14336666-14336666 + PD13608a COSM5767641 c.3900C>G p.L1300L Substitution - coding silent 5:14388631-14388631 + Pat_76_B COSM3661561 c.7909C>T p.R2637C Substitution - Missense 5:14496907-14496907 + LUAD-S01315 COSM345716 c.718A>T p.I240F Substitution - Missense 5:14290893-14290893 + TCGA-BR-6452-01 COSM3852376 c.7718A>G p.Y2573C Substitution - Missense 5:14492652-14492652 + S02292 COSM5688018 c.5359G>C p.G1787R Substitution - Missense 5:14461174-14461174 + TCGA-FW-A3R5-06 COSM3919228 c.2796C>T p.A932A Substitution - coding silent 5:14366901-14366901 + TCGA-BS-A0UV-01 COSM1063667 c.817G>A p.E273K Substitution - Missense 5:14290992-14290992 + STC246 COSM5060810 c.9177C>T p.G3059G Substitution - coding silent 5:14508305-14508305 + MDA-MB-231 COSM1671524 c.8365A>G p.K2789E Substitution - Missense 5:14502611-14502611 + TCGA-CU-A0YO-01 COSM420853 c.2314G>C p.E772Q Substitution - Missense 5:14359454-14359454 + pfg127T COSM4750234 c.4024G>A p.G1342R Substitution - Missense 5:14389364-14389364 + TCGA-GD-A3OP-01 COSM1063705 c.4504C>T p.R1502* Substitution - Nonsense 5:14398960-14398960 + TCGA-B5-A0JY-01 COSM1063721 c.6582C>T p.I2194I Substitution - coding silent 5:14482698-14482698 + BCM337T COSM4799160 c.9130G>A p.A3044T Substitution - Missense 5:14508258-14508258 + Pat_05_A COSM5867707 c.343C>T p.P115S Substitution - Missense 5:14280432-14280432 + 13280 COSM3209826 c.3693C>G p.F1231L Substitution - Missense 5:14387560-14387560 + BD62T COSM5498645 c.1425A>G p.S475S Substitution - coding silent 5:14304517-14304517 + CSCC-57-T COSM4468459 c.1545C>T p.P515P Substitution - coding silent 5:14316557-14316557 + HCC93T COSM3661558 c.5389G>A p.A1797T Substitution - Missense 5:14461204-14461204 + Pat_05_B COSM5867707 c.343C>T p.P115S Substitution - Missense 5:14280432-14280432 + Au1 COSM5597758 c.2783C>T p.S928F Substitution - Missense 5:14366888-14366888 + TCGA-GN-A26C-01 COSM3611886 c.3154G>A p.E1052K Substitution - Missense 5:14369461-14369461 + TCGA-CM-4746-01 COSM181395 c.391C>T p.R131C Substitution - Missense 5:14286914-14286914 + TCGA-F5-6814-01 COSM3429119 c.1484C>G p.T495S Substitution - Missense 5:14304576-14304576 + Patient_1 COSM5413830 c.1152C>A p.H384Q Substitution - Missense 5:14293110-14293110 + TCGA-B0-4811-01 COSM482269 c.6066T>A p.I2022I Substitution - coding silent 5:14474080-14474080 + ESO-1488 COSM1268606 c.733G>A p.E245K Substitution - Missense 5:14290908-14290908 + TCGA-AP-A059-01 COSM1063699 c.3739G>A p.G1247R Substitution - Missense 5:14387606-14387606 + BD141T COSM5516939 c.4394A>G p.N1465S Substitution - Missense 5:14397125-14397125 + sysucc-880T COSM5463401 c.6889G>A p.G2297S Substitution - Missense 5:14487517-14487517 + TCGA-CA-6717-01 COSM1434850 c.3287C>A p.P1096Q Substitution - Missense 5:14374299-14374299 + LUAD-AEIUF COSM393012 c.5319_5320GC>TT p.L1773>? Complex 5:14461134-14461135 + 2492700 COSM5716425 c.5598C>T p.A1866A Substitution - coding silent 5:14462856-14462856 + C658 COSM4443504 c.2217G>T p.R739S Substitution - Missense 5:14359357-14359357 + CAL33 COSM3209787 c.2553_2555delTCT p.L853delL Deletion - In frame 5:14363893-14363895 + ESCC-F60 COSM5048205 c.5806G>T p.D1936Y Substitution - Missense 5:14471360-14471360 + TCGA-BR-A4QL-01 COSM3852353 c.2724G>A p.Q908Q Substitution - coding silent 5:14364786-14364786 + T2197 COSM1434868 c.7044delC p.V2351fs*62 Deletion - Frameshift 5:14487672-14487672 + PT35 COSM5912359 c.5509G>A p.E1837K Substitution - Missense 5:14462767-14462767 + OSCC-GB_00560111 COSM4883728 c.9107C>A p.A3036D Substitution - Missense 5:14508235-14508235 + 587376 COSM1230438 c.488A>C p.N163T Substitution - Missense 5:14287011-14287011 + TCGA-AA-3713-01 COSM271574 c.8964C>T p.G2988G Substitution - coding silent 5:14508092-14508092 + TCGA-D3-A51J-06 COSM3611884 c.3067-1G>A p.? Unknown 5:14369373-14369373 + Pat_41_B COSM5867717 c.6628C>T p.P2210S Substitution - Missense 5:14482744-14482744 + 2492730 COSM5729505 c.8751+1G>T p.? Unknown 5:14507261-14507261 + TCGA-EE-A2A6-06 COSM3611915 c.6474C>T p.I2158I Substitution - coding silent 5:14482590-14482590 + PD1520a COSM20792 c.9125C>T p.A3042V Substitution - Missense 5:14508253-14508253 + TCGA-A6-5665-01 COSM1434868 c.7044delC p.V2351fs*62 Deletion - Frameshift 5:14487672-14487672 + TCGA-DD-A11C-01 COSM4925594 c.8367A>G p.K2789K Substitution - coding silent 5:14502613-14502613 + TCGA-DK-A3IU-01 COSM3776389 c.1424C>T p.S475L Substitution - Missense 5:14304516-14304516 + MO_1277 COSM5565271 c.7987C>A p.R2663R Substitution - coding silent 5:14496985-14496985 + TCGA-D1-A1NU-01 COSM1063726 c.8322G>A p.L2774L Substitution - coding silent 5:14498630-14498630 + ESO-139 COSM1268605 c.2025C>A p.S675S Substitution - coding silent 5:14336706-14336706 + TCGA-H4-A2HQ-01 COSM1310809 c.3509C>G p.S1170C Substitution - Missense 5:14381191-14381191 + TCGA-BR-A4PE-01 COSM3852378 c.7783G>A p.A2595T Substitution - Missense 5:14492717-14492717 + 587238 COSM1230431 c.5450A>G p.D1817G Substitution - Missense 5:14461265-14461265 + TCGA-AP-A051-01 COSM1063693 c.2757G>A p.V919V Substitution - coding silent 5:14366862-14366862 + TCGA-EE-A3JD-06 COSM4397134 c.2004C>T p.I668I Substitution - coding silent 5:14336685-14336685 + sysucc-715T COSM5461475 c.1219C>T p.R407C Substitution - Missense 5:14297114-14297114 + 126T COSM1725624 c.8425G>T p.V2809F Substitution - Missense 5:14504406-14504406 + 93VU147T COSM4591588 c.8678G>A p.R2893K Substitution - Missense 5:14507187-14507187 + LUAD-F00365 COSM340726 c.9113G>A p.R3038H Substitution - Missense 5:14508241-14508241 + HT115 COSM3209933 c.7936G>T p.D2646Y Substitution - Missense 5:14496934-14496934 + CHC892T COSM4794060 c.5668-1G>A p.? Unknown 5:14465544-14465544 + CSCC-37-T COSM4481196 c.2490C>T p.H830H Substitution - coding silent 5:14363830-14363830 + 230 COSM3730414 c.3948+9_3948+10insT p.? Unknown 5:14388688-14388689 + TCGA-EL-A3ZT-01 COSM3373733 c.7690G>A p.A2564T Substitution - Missense 5:14492624-14492624 + MZ7-mel COSM18260 c.3950C>T p.T1317M Substitution - Missense 5:14389290-14389290 + TCGA-D9-A6EC-06 COSM4405411 c.6544C>T p.R2182C Substitution - Missense 5:14482660-14482660 + 032T COSM1728465 c.4288A>C p.T1430P Substitution - Missense 5:14394107-14394107 + SC_9065 COSM3852355 c.2941G>A p.D981N Substitution - Missense 5:14368774-14368774 + TCGA-CM-4743-01 COSM1434859 c.5668-2A>C p.? Unknown 5:14465543-14465543 + TCGA-F9-A4JJ-01 COSM3994090 c.8008G>C p.V2670L Substitution - Missense 5:14497006-14497006 + D-542MG COSM20980 c.469_470insCCC p.A156_L157insP Insertion - In frame 5:14286992-14286993 + S00501 COSM1241852 c.6085delT p.L2031fs*1 Deletion - Frameshift 5:14476895-14476895 + TCGA-18-4083-01 COSM736535 c.3233G>A p.R1078Q Substitution - Missense 5:14374245-14374245 + HCC7 COSM1619783 c.6153+10A>G p.? Unknown 5:14476973-14476973 + TCGA-AN-A046-01 COSM3827307 c.6510C>A p.F2170L Substitution - Missense 5:14482626-14482626 + 169 COSM3729295 c.2301G>A p.A767A Substitution - coding silent 5:14359441-14359441 + HCC102T COSM1619779 c.2391C>T p.D797D Substitution - coding silent 5:14359531-14359531 + ESCC_75 COSM5634942 c.5517G>A p.L1839L Substitution - coding silent 5:14462775-14462775 + BD49T COSM5497783 c.8211-5C>T p.? Unknown 5:14498514-14498514 + PD6044a COSM5356437 c.5063G>A p.R1688Q Substitution - Missense 5:14419881-14419881 + TCGA-G2-A2EF-01 COSM1310812 c.7994G>A p.G2665E Substitution - Missense 5:14496992-14496992 + KYSE450 COSM3209804 c.3214A>G p.K1072E Substitution - Missense 5:14369521-14369521 + TCGA-EJ-7125-01 COSM3674340 c.6726G>T p.T2242T Substitution - coding silent 5:14485137-14485137 + 6 COSM5732338 c.1448C>A p.A483D Substitution - Missense 5:14304540-14304540 + CSCC-19-T COSM4504565 c.6697C>T p.P2233S Substitution - Missense 5:14485108-14485108 + ZZUFHECRKL-G052T COSM5431419 c.1805G>T p.R602L Substitution - Missense 5:14330851-14330851 + PD2006a COSM20982 c.8561delG p.G2854fs*16 Deletion - Frameshift 5:14504542-14504542 + BRC50 COSM5026271 c.5874G>C p.E1958D Substitution - Missense 5:14471428-14471428 + TCGA-B5-A11S-01 COSM1063664 c.574G>A p.V192I Substitution - Missense 5:14290749-14290749 + 587278 COSM1230433 c.2036A>G p.H679R Substitution - Missense 5:14336717-14336717 + TCGA-AU-6004-01 COSM1434870 c.7486C>T p.R2496* Substitution - Nonsense 5:14488114-14488114 + TCGA-19-2624 COSM2156194 c.5591C>A p.A1864D Substitution - Missense 5:14462849-14462849 + FM474T COSM673681 c.1220G>A p.R407H Substitution - Missense 5:14297115-14297115 + CHEWS002 COSM4585579 c.348C>T p.S116S Substitution - coding silent 5:14286871-14286871 + C086 COSM5540832 c.5843C>T p.S1948F Substitution - Missense 5:14471397-14471397 + L363 COSM1236177 c.3087C>A p.S1029R Substitution - Missense 5:14369394-14369394 + Gp5D COSM3209842 c.4283G>A p.R1428Q Substitution - Missense 5:14394102-14394102 + Pat_41_B COSM5867716 c.6298C>T p.P2100S Substitution - Missense 5:14479973-14479973 + 55 COSM4778238 c.5974G>T p.V1992F Substitution - Missense 5:14472653-14472653 + SNUH_G46_S1 COSM3683757 c.249T>G p.R83R Substitution - coding silent 5:14280338-14280338 + PT36 COSM5915474 c.2798G>A p.G933E Substitution - Missense 5:14366903-14366903 + YUDEDE COSM1695465 c.5776C>T p.R1926C Substitution - Missense 5:14471330-14471330 + BD165T COSM5506177 c.5956C>T p.R1986W Substitution - Missense 5:14472635-14472635 + OSCC-GB_00620111 COSM4881495 c.2718C>T p.C906C Substitution - coding silent 5:14364780-14364780 + pfg212T COSM4750232 c.1127A>G p.H376R Substitution - Missense 5:14293085-14293085 + TCGA-BH-A0AW-01 COSM449033 c.4611G>A p.L1537L Substitution - coding silent 5:14399067-14399067 + TCGA-EE-A2M5-06 COSM3611924 c.8710C>T p.R2904W Substitution - Missense 5:14507219-14507219 + HCT15 COSM4632957 c.5347C>T p.R1783W Substitution - Missense 5:14461162-14461162 + I2L-P7-Tumor-Organoid COSM5356347 c.7044_7045delCC p.P2350fs*90 Deletion - Frameshift 5:14487672-14487673 + TCGA-BS-A0UV-01 COSM1063666 c.634G>T p.E212* Substitution - Nonsense 5:14290809-14290809 + HT115 COSM181395 c.391C>T p.R131C Substitution - Missense 5:14286914-14286914 + ESCC-F69 COSM5048316 c.9293G>C p.*3098S Nonstop extension 5:14508421-14508421 + 385 COSM98119 c.3387G>A p.M1129I Substitution - Missense 5:14378067-14378067 + 2492701 COSM5716425 c.5598C>T p.A1866A Substitution - coding silent 5:14462856-14462856 + 2011-2311:2012-362-T COSM4605742 c.6614A>G p.K2205R Substitution - Missense 5:14482730-14482730 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.130026;Hs.130027;Hs.130031 5p15.2 601893

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.D1054A c.3161A>C 5 14369577 COREAD A G Missense p.D815G c.2444A>G 5 14363893 STAD A G Missense p.E1603G c.4808A>G 5 14406048 HNSC A G Missense p.E481G c.1442A>G 5 14304643 CM A G Missense p.I1333V c.3997A>G 5 14389446 GBM A G Missense p.K1801R c.5402A>G 5 14461326 LUAD A G Missense p.N2668S c.8003A>G 5 14497110 BRCA A G Missense p.N390S c.1169A>G 5 14293236 STAD A G Missense p.N857S c.2570A>G 5 14364019 LUAD A G Missense p.Q2085R c.6254A>G 5 14480038 CM A G Synonymous p.A617A c.1851A>G 5 14331006 LUSC A - IntronicDeletion . c.8752-25delA 5 14507961 STAD ATA - InFrameDeletion p.N1353delN c.4056_4058delTAA 5 14389501 STAD A T IntronicSNV . c.7881-1944A>T 5 14495044 PIA A T Missense p.H2895L c.8684A>T 5 14507302 LUSC A T Missense p.K2235I c.6704A>T 5 14485224 RCCC A T Missense p.S1025C c.3073A>T 5 14369489 LUAD C A IntronicSNV . c.158-48134C>A 5 14222800 CLL C A IntronicSNV . c.2755-43C>A 5 14366926 STAD C A Missense p.H358Q c.1074C>A 5 14293141 ESCA C A Missense p.L2985I c.8953C>A 5 14508190 CM C A Missense p.N1121K c.3363C>A 5 14378152 HNSC C A Missense p.Q1118K c.3352C>A 5 14378141 LUSC C A Missense p.S2671Y c.8012C>A 5 14497119 RCCC C A Missense p.S2773R c.8319C>A 5 14498736 BRCA C A Nonsense p.Y2757* c.8271C>A 5 14498688 LUAD C A Synonymous p.G1325G c.3975C>A 5 14389424 LUSC C A Synonymous p.R1276R c.3826C>A 5 14387901 CM C A Synonymous p.S675S c.2025C>A 5 14336815 ESCA - CCCCCAC IntronicInsertion . c.157+1622_157+1623insCCCCCAC 5 14145613 CLL - CCC InFrameInsertion p.L157_I158insP c.470_471insCCC 5 14287102 GBM C - Frameshift p.V2351Cfs*62 c.7050delC 5 14487781 CM C G Missense p.A388G c.1163C>G 5 14293230 UCEC C G Missense p.F1231L c.3693C>G 5 14387669 NSCLC C G Missense p.H2051Q c.6153C>G 5 14477072 HNSC C G Missense p.L364V c.1090C>G 5 14293157 BRCA C G Missense p.N1671K c.5013C>G 5 14419940 OV C G Missense p.P1712A c.5134C>G 5 14420061 CM C G Missense p.P1870A c.5608C>G 5 14462975 GBM C G Missense p.R602G c.1804C>G 5 14330959 LUSC C G Missense p.S1170C c.3509C>G 5 14381300 BLCA C G Missense p.S2488C c.7463C>G 5 14488200 LUSC C G Synonymous p.L1007L c.3021C>G 5 14368963 HNSC C G Synonymous p.P2600P c.7800C>G 5 14492843 BRCA C G Synonymous p.R400R c.1200C>G 5 14297204 OV C G Synonymous p.V2762V c.8286C>G 5 14498703 LUAD C T 3-UTRSNV . c.9291+112C>T 5 14508640 CM C T IntronicSNV . c.4614+97C>T 5 14399276 CM C T IntronicSNV . c.5204-19905C>T 5 14441223 MB C T Missense p.A2960V c.8879C>T 5 14508116 UCEC C T Missense p.A434V c.1301C>T 5 14297305 THCA C T Missense p.A700V c.2099C>T 5 14358339 CM C T Missense p.A861V c.2582C>T 5 14364031 CM C T Missense p.L76F c.226C>T 5 14271002 CM C T Missense p.P1898L c.5693C>T 5 14465679 CM C T Missense p.P2210L c.6629C>T 5 14482854 CM C T Missense p.P2497L c.7490C>T 5 14488227 CM C T Missense p.P2677L c.8030C>T 5 14497966 CM C T Missense p.R2515C c.7543C>T 5 14488280 CM C T Missense p.R2663W c.7987C>T 5 14497094 MM C T Missense p.R2904W c.8710C>T 5 14507328 CM C T Missense p.R317W c.949C>T 5 14291233 STAD C T Missense p.R407C c.1219C>T 5 14297223 CM C T Missense p.S109F c.326C>T 5 14280524 CM C T Missense p.S1420F c.4259C>T 5 14394187 CM C T Missense p.S2767L c.8300C>T 5 14498717 UCEC C T Missense p.S3064F c.9191C>T 5 14508428 CLL C T Missense p.S475L c.1424C>T 5 14304625 BLCA C T Missense p.S753F c.2258C>T 5 14359507 LUAD C T Missense p.T1075I c.3224C>T 5 14374345 NB C T Missense p.T1644M c.4931C>T 5 14406753 LGG C T Missense p.T1644M c.4931C>T 5 14406753 UCEC C T Nonsense p.Q2063* c.6187C>T 5 14479403 LUAD C T Nonsense p.Q2845* c.8533C>T 5 14504623 UCEC C T Nonsense p.R1502* c.4504C>T 5 14399069 BLCA C T Nonsense p.R1678* c.5032C>T 5 14419959 STAD C T Synonymous p.A2160A c.6480C>T 5 14482705 LUAD C T Synonymous p.A2518A c.7554C>T 5 14488291 CM C T Synonymous p.F1070F c.3210C>T 5 14369626 CM C T Synonymous p.G1042G c.3126C>T 5 14369542 UCEC C T Synonymous p.G1860G c.5580C>T 5 14462947 UCEC C T Synonymous p.H487H c.1461C>T 5 14304662 CM C T Synonymous p.I1268I c.3804C>T 5 14387879 HNSC C T Synonymous p.I2158I c.6474C>T 5 14482699 CM C T Synonymous p.I2489I c.7467C>T 5 14488204 CM C T Synonymous p.I3082I c.9246C>T 5 14508483 CM C T Synonymous p.I668I c.2004C>T 5 14336794 CM C T Synonymous p.I710I c.2130C>T 5 14358370 CM C T Synonymous p.L1233L c.3697C>T 5 14387673 CM C T Synonymous p.L802L c.2406C>T 5 14363855 STAD C T Synonymous p.P2493P c.7479C>T 5 14488216 CM C T Synonymous p.R1897R c.5691C>T 5 14465677 LUSC C T Synonymous p.R2515R c.7545C>T 5 14488282 CM C T Synonymous p.R2834R c.8502C>T 5 14504592 BRCA C T Synonymous p.S137S c.411C>T 5 14287043 CM C T Synonymous p.S1948S c.5844C>T 5 14471507 CM C T Synonymous p.S2046S c.6138C>T 5 14477057 CM C T Synonymous p.S2508S c.7524C>T 5 14488261 CM C T Synonymous p.V2853V c.8559C>T 5 14504649 STAD G A IntronicSNV . c.8332+419G>A 5 14499168 HC G A Missense p.A1215T c.3643G>A 5 14387619 CM G A Missense p.D1581N c.4741G>A 5 14405981 SCLC G A Missense p.D2995N c.8983G>A 5 14508220 BRCA G A Missense p.D697N c.2089G>A 5 14358329 COREAD G A Missense p.D981N c.2941G>A 5 14368883 STAD G A Missense p.E1052K c.3154G>A 5 14369570 CM G A Missense p.E1328K c.3982G>A 5 14389431 BLCA G A Missense p.E1958K c.5872G>A 5 14471535 CM G A Missense p.E1993K c.5977G>A 5 14472765 BLCA G A Missense p.E2035K c.6103G>A 5 14477022 STAD G A Missense p.E211K c.631G>A 5 14290915 UCEC G A Missense p.E215K c.643G>A 5 14290927 BRCA G A Missense p.E245K c.733G>A 5 14291017 ESCA G A Missense p.E2569K c.7705G>A 5 14492748 HNSC G A Missense p.E273K c.817G>A 5 14291101 CM G A Missense p.G1851E c.5552G>A 5 14462919 CM G A Missense p.G1860D c.5579G>A 5 14462946 CM G A Missense p.G2658S c.7972G>A 5 14497079 UCEC G A Missense p.G2665E c.7994G>A 5 14497101 BLCA G A Missense p.G2805S c.8413G>A 5 14504503 PRAD G A Missense p.M1129I c.3387G>A 5 14378176 HNSC G A Missense p.M2588I c.7764G>A 5 14492807 BLCA G A Missense p.R105K c.314G>A 5 14280512 STAD G A Missense p.R106K c.317G>A 5 14280515 CM G A Missense p.R1078Q c.3233G>A 5 14374354 LUSC G A Missense p.R131H c.392G>A 5 14287024 AML G A Missense p.R1428Q c.4283G>A 5 14394211 CM G A Missense p.R1982H c.5945G>A 5 14472733 CLL G A Missense p.R2150Q c.6449G>A 5 14481711 STAD G A Missense p.R2711H c.8132G>A 5 14498282 LGG G A Missense p.R2876H c.8627G>A 5 14507245 BLCA G A Missense p.R3073H c.9218G>A 5 14508455 COREAD G A Missense p.R662H c.1985G>A 5 14336775 UCEC G A Missense p.R789H c.2366G>A 5 14359615 UCEC G A Missense p.V192I c.574G>A 5 14290858 UCEC G A Missense p.V2245M c.6733G>A 5 14485253 STAD G A Missense p.V2989M c.8965G>A 5 14508202 HNSC G A Missense p.V698M c.2092G>A 5 14358332 HNSC G A Synonymous p.E1216E c.3648G>A 5 14387624 HNSC G A Synonymous p.E808E c.2424G>A 5 14363873 BRCA G A Synonymous p.L1537L c.4611G>A 5 14399176 BRCA G A Synonymous p.L2774L c.8322G>A 5 14498739 UCEC G A Synonymous p.L342L c.1026G>A 5 14291310 HNSC G A Synonymous p.L342L c.1026G>A 5 14291310 MM G A Synonymous p.L590L c.1770G>A 5 14330925 MM G A Synonymous p.Q284Q c.852G>A 5 14291136 BRCA G A Synonymous p.R2090R c.6270G>A 5 14480054 CM G A Synonymous p.V1917V c.5751G>A 5 14465737 CM G C Missense p.C1207S c.3620G>C 5 14387596 BLCA G C Missense p.D708H c.2122G>C 5 14358362 BRCA G C Missense p.E1181Q c.3541G>C 5 14381332 HNSC G C Missense p.E1285Q c.3853G>C 5 14387928 BLCA G C Missense p.E1299Q c.3895G>C 5 14388735 BRCA G C Missense p.E1958D c.5874G>C 5 14471537 BRCA G C Missense p.E2860Q c.8578G>C 5 14504668 HNSC G C Missense p.E427Q c.1279G>C 5 14297283 LUSC G C Missense p.E644Q c.1930G>C 5 14336720 LUSC G C Missense p.E693D c.2079G>C 5 14358319 LUAD G C Missense p.E772Q c.2314G>C 5 14359563 BLCA G C Missense p.Q811H c.2433G>C 5 14363882 LUAD G C Missense p.R2274P c.6821G>C 5 14485341 HNSC G C Missense p.R3065T c.9194G>C 5 14508431 HNSC G C Missense p.W2025C c.6075G>C 5 14474198 LUAD G C Synonymous p.G2504G c.7512G>C 5 14488249 CM G C Synonymous p.P2503P c.7509G>C 5 14488246 HNSC GG TT SpliceDonorBlockSubstitution . c.1854_1854+1delinsTT 5 14331009 LUAD G T IntronicSNV . c.540+36G>T 5 14287208 CM G T IntronicSNV . c.6465+112G>T 5 14481839 CM G T IntronicSNV . c.6657+47G>T 5 14482929 NSCLC G T IntronicSNV . c.8751+28G>T 5 14507397 NSCLC G T Missense p.A1212S c.3634G>T 5 14387610 NB G T Missense p.G1851W c.5551G>T 5 14462918 LUAD G T Missense p.G2482V c.7445G>T 5 14488182 CM G T Missense p.R1703L c.5108G>T 5 14420035 LUAD G T Missense p.R2663L c.7988G>T 5 14497095 CM G T Nonsense p.E1321* c.3961G>T 5 14389410 ESCA G T SpliceAcceptorSNV . c.6466-1G>T 5 14482690 LUAD G T Synonymous p.L2896L c.8688G>T 5 14507306 LUAD G T Synonymous p.T2945T c.8835G>T 5 14508072 LUAD T A IntronicSNV . c.6658-15T>A 5 14485163 STAD T A Missense p.D2176E c.6528T>A 5 14482753 OV T A Missense p.V2903D c.8708T>A 5 14507326 LUAD T A Synonymous p.L885L c.2655T>A 5 14364826 RCCC T A Synonymous p.S1051S c.3153T>A 5 14369569 CM T C IntronicSNV . c.4423+103T>C 5 14397366 HC T C Missense p.I370T c.1109T>C 5 14293176 THCA T C Missense p.V1711A c.5132T>C 5 14420059 CM T C Missense p.V1991A c.5972T>C 5 14472760 BRCA T C Missense p.Y1533H c.4597T>C 5 14399162 BRCA T C Missense p.Y2948H c.8842T>C 5 14508079 PRAD T - Frameshift p.L2031*fs*1 c.6092delT 5 14477004 STAD T G IntronicSNV . c.1732-4518T>G 5 14326369 CLL T G IntronicSNV . c.6658-13T>G 5 14485165 STAD T G IntronicSNV . c.6658-14T>G 5 14485164 STAD T G Missense p.D194E c.582T>G 5 14290866 NB T G Missense p.I2250M c.6750T>G 5 14485270 LUSC T G Missense p.S1271A c.3811T>G 5 14387886 UCEC T G Missense p.S804A c.2410T>G 5 14363859 PRAD T G Missense p.V2220G c.6659T>G 5 14485179 HNSC TGTGTGTGTGTGTG - IntronicDeletion . c.158-40463_158-40450delGTGTGTGTGTGTGT 5 14230450 CM - T IntronicInsertion . c.3571-5dupT 5 14387538 STAD