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 3 141162487 141162487 + Silent SNP A A T TCGA-OR-A5K5-01A-11D-A29I-10 TCGA-OR-A5K5-10A-01D-A29L-10 g.chr3:141162487A>T c.1257A>T c.(1255-1257)ggA>ggT p.G419G BLCA 3 141161237 141161237 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 g.chr3:141161237G>A c.7G>A c.(7-9)Gtc>Atc p.V3I BLCA 3 141161333 141161333 + Missense_Mutation SNP G G A TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 g.chr3:141161333G>A c.103G>A c.(103-105)Gtc>Atc p.V35I BLCA 3 141161503 141161503 + Silent SNP C C A TCGA-E7-A6MF-01A-12D-A32B-08 TCGA-E7-A6MF-10B-01D-A329-08 g.chr3:141161503C>A c.273C>A c.(271-273)atC>atA p.I91I BLCA 3 141161776 141161776 + Silent SNP G G A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr3:141161776G>A c.546G>A c.(544-546)ccG>ccA p.P182P BLCA 3 141161785 141161785 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr3:141161785G>C c.555G>C c.(553-555)ttG>ttC p.L185F BLCA 3 141162247 141162247 + Silent SNP T T G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 g.chr3:141162247T>G c.1017T>G c.(1015-1017)ccT>ccG p.P339P BLCA 3 141162438 141162438 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr3:141162438G>C c.1208G>C c.(1207-1209)gGa>gCa p.G403A BLCA 3 141163027 141163027 + Silent SNP A A C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 g.chr3:141163027A>C c.1797A>C c.(1795-1797)gcA>gcC p.A599A BLCA 3 141163197 141163197 + Missense_Mutation SNP G G T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr3:141163197G>T c.1967G>T c.(1966-1968)gGa>gTa p.G656V BLCA 3 141163251 141163251 + Nonsense_Mutation SNP C C G TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr3:141163251C>G c.2021C>G c.(2020-2022)tCa>tGa p.S674* BLCA 3 141163550 141163550 + Missense_Mutation SNP A A G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 g.chr3:141163550A>G c.2320A>G c.(2320-2322)Att>Gtt p.I774V BLCA 3 141163575 141163575 + Nonsense_Mutation SNP C C G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 g.chr3:141163575C>G c.2345C>G c.(2344-2346)tCa>tGa p.S782* BLCA 3 141163632 141163632 + Missense_Mutation SNP C C T TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr3:141163632C>T c.2402C>T c.(2401-2403)tCa>tTa p.S801L BLCA 3 141164050 141164050 + Silent SNP G G A TCGA-E7-A6MF-01A-12D-A32B-08 TCGA-E7-A6MF-10B-01D-A329-08 g.chr3:141164050G>A c.2820G>A c.(2818-2820)agG>agA p.R940R BLCA 3 141164461 141164461 + Missense_Mutation SNP G G C TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr3:141164461G>C c.3231G>C c.(3229-3231)ttG>ttC p.L1077F BLCA 3 141164572 141164572 + Silent SNP G G A TCGA-E7-A6MF-01A-12D-A32B-08 TCGA-E7-A6MF-10B-01D-A329-08 g.chr3:141164572G>A c.3342G>A c.(3340-3342)caG>caA p.Q1114Q BRCA 3 141161656 141161656 + Silent SNP A A C TCGA-A2-A1G1-01A-21D-A13L-09 TCGA-A2-A1G1-10A-01D-A13O-09 g.chr3:141161656A>C c.426A>C c.(424-426)ggA>ggC p.G142G BRCA 3 141162010 141162010 + Silent SNP G G A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 g.chr3:141162010G>A c.780G>A c.(778-780)ccG>ccA p.P260P BRCA 3 141162042 141162042 + Missense_Mutation SNP T T G TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 g.chr3:141162042T>G c.812T>G c.(811-813)aTa>aGa p.I271R BRCA 3 141162374 141162374 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr3:141162374A>C c.1144A>C c.(1144-1146)Acc>Ccc p.T382P BRCA 3 141162773 141162773 + Nonsense_Mutation SNP C C T TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr3:141162773C>T c.1543C>T c.(1543-1545)Cga>Tga p.R515* BRCA 3 141163018 141163018 + Silent SNP T T C TCGA-AR-A0U2-01A-11D-A10G-09 TCGA-AR-A0U2-10A-01D-A10G-09 g.chr3:141163018T>C c.1788T>C c.(1786-1788)aaT>aaC p.N596N BRCA 3 141164333 141164333 + Missense_Mutation SNP G G A TCGA-A2-A1FX-01A-11D-A13L-09 TCGA-A2-A1FX-10A-01D-A13O-09 g.chr3:141164333G>A c.3103G>A c.(3103-3105)Gag>Aag p.E1035K BRCA 3 141164487 141164488 + Frame_Shift_Ins INS - - A TCGA-AR-A0U0-01A-11D-A10G-09 TCGA-AR-A0U0-10A-01D-A10G-09 g.chr3:141164487_141164488insA c.3257_3258insA c.(3256-3261)agaatcfs p.I1087fs BRCA 3 141164738 141164738 + Missense_Mutation SNP G G A TCGA-BH-A42T-01A-11D-A243-09 TCGA-BH-A42T-10A-01D-A243-09 g.chr3:141164738G>A c.3508G>A c.(3508-3510)Gag>Aag p.E1170K CESC 3 141161572 141161572 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 g.chr3:141161572G>A c.342G>A c.(340-342)ctG>ctA p.L114L CESC 3 141161785 141161785 + Missense_Mutation SNP G G C TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 g.chr3:141161785G>C c.555G>C c.(553-555)ttG>ttC p.L185F CESC 3 141161907 141161907 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 g.chr3:141161907C>G c.677C>G c.(676-678)tCt>tGt p.S226C CESC 3 141162301 141162301 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr3:141162301C>G c.1071C>G c.(1069-1071)ctC>ctG p.L357L CESC 3 141162660 141162660 + Missense_Mutation SNP G G C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 g.chr3:141162660G>C c.1430G>C c.(1429-1431)aGa>aCa p.R477T CESC 3 141162767 141162767 + Missense_Mutation SNP G G A TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 g.chr3:141162767G>A c.1537G>A c.(1537-1539)Gaa>Aaa p.E513K CESC 3 141162891 141162891 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 g.chr3:141162891G>A c.1661G>A c.(1660-1662)gGa>gAa p.G554E CESC 3 141164162 141164162 + Missense_Mutation SNP G G C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 g.chr3:141164162G>C c.2932G>C c.(2932-2934)Gag>Cag p.E978Q CESC 3 141164487 141164487 + Missense_Mutation SNP G G C TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr3:141164487G>C c.3257G>C c.(3256-3258)aGa>aCa p.R1086T CESC 3 141164491 141164491 + Silent SNP C C T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 g.chr3:141164491C>T c.3261C>T c.(3259-3261)atC>atT p.I1087I CHOL 3 141162287 141162287 + Missense_Mutation SNP A A T TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr3:141162287A>T c.1057A>T c.(1057-1059)Agc>Tgc p.S353C COAD 3 141161266 141161266 + Silent SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr3:141161266C>T c.36C>T c.(34-36)gaC>gaT p.D12D COAD 3 141161266 141161266 + Silent SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr3:141161266C>T c.36C>T c.(34-36)gaC>gaT p.D12D COAD 3 141161679 141161679 + Frame_Shift_Del DEL A A - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr3:141161679delA c.449delA c.(448-450)gaafs p.E150fs COAD 3 141162449 141162449 + Missense_Mutation SNP C C T TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr3:141162449C>T c.1219C>T c.(1219-1221)Cgc>Tgc p.R407C COAD 3 141162762 141162762 + Missense_Mutation SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr3:141162762C>T c.1532C>T c.(1531-1533)aCg>aTg p.T511M COAD 3 141163184 141163184 + Missense_Mutation SNP G G A TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chr3:141163184G>A c.1954G>A c.(1954-1956)Ggt>Agt p.G652S COAD 3 141163257 141163257 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:141163257C>A c.2027C>A c.(2026-2028)tCt>tAt p.S676Y COAD 3 141163836 141163836 + Missense_Mutation SNP A A G TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:141163836A>G c.2606A>G c.(2605-2607)cAg>cGg p.Q869R COAD 3 141163890 141163890 + Missense_Mutation SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr3:141163890G>A c.2660G>A c.(2659-2661)aGc>aAc p.S887N COAD 3 141163991 141163991 + Missense_Mutation SNP A A T TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr3:141163991A>T c.2761A>T c.(2761-2763)Aac>Tac p.N921Y COAD 3 141164114 141164114 + Missense_Mutation SNP G G A TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr3:141164114G>A c.2884G>A c.(2884-2886)Gtg>Atg p.V962M COAD 3 141164253 141164253 + Missense_Mutation SNP G G A TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr3:141164253G>A c.3023G>A c.(3022-3024)cGg>cAg p.R1008Q COAD 3 141164267 141164267 + Missense_Mutation SNP G G A TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr3:141164267G>A c.3037G>A c.(3037-3039)Gag>Aag p.E1013K COAD 3 141164534 141164534 + Silent SNP A A C TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr3:141164534A>C c.3304A>C c.(3304-3306)Aga>Cga p.R1102R COAD 3 141164557 141164557 + Silent SNP A A G TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr3:141164557A>G c.3327A>G c.(3325-3327)aaA>aaG p.K1109K COADREAD 3 141161266 141161266 + Silent SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr3:141161266C>T c.36C>T c.(34-36)gaC>gaT p.D12D COADREAD 3 141161266 141161266 + Silent SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr3:141161266C>T c.36C>T c.(34-36)gaC>gaT p.D12D COADREAD 3 141161679 141161679 + Frame_Shift_Del DEL A A - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr3:141161679delA c.449delA c.(448-450)gaafs p.E150fs COADREAD 3 141162449 141162449 + Missense_Mutation SNP C C T TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr3:141162449C>T c.1219C>T c.(1219-1221)Cgc>Tgc p.R407C COADREAD 3 141162762 141162762 + Missense_Mutation SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr3:141162762C>T c.1532C>T c.(1531-1533)aCg>aTg p.T511M COADREAD 3 141163184 141163184 + Missense_Mutation SNP G G A TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chr3:141163184G>A c.1954G>A c.(1954-1956)Ggt>Agt p.G652S COADREAD 3 141163257 141163257 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:141163257C>A c.2027C>A c.(2026-2028)tCt>tAt p.S676Y COADREAD 3 141163836 141163836 + Missense_Mutation SNP A A G TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:141163836A>G c.2606A>G c.(2605-2607)cAg>cGg p.Q869R COADREAD 3 141163890 141163890 + Missense_Mutation SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr3:141163890G>A c.2660G>A c.(2659-2661)aGc>aAc p.S887N COADREAD 3 141163991 141163991 + Missense_Mutation SNP A A T TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr3:141163991A>T c.2761A>T c.(2761-2763)Aac>Tac p.N921Y COADREAD 3 141164114 141164114 + Missense_Mutation SNP G G A TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr3:141164114G>A c.2884G>A c.(2884-2886)Gtg>Atg p.V962M COADREAD 3 141164253 141164253 + Missense_Mutation SNP G G A TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr3:141164253G>A c.3023G>A c.(3022-3024)cGg>cAg p.R1008Q COADREAD 3 141164267 141164267 + Missense_Mutation SNP G G A TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr3:141164267G>A c.3037G>A c.(3037-3039)Gag>Aag p.E1013K COADREAD 3 141164534 141164534 + Silent SNP A A C TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr3:141164534A>C c.3304A>C c.(3304-3306)Aga>Cga p.R1102R COADREAD 3 141164557 141164557 + Silent SNP A A G TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr3:141164557A>G c.3327A>G c.(3325-3327)aaA>aaG p.K1109K ESCA 3 141161329 141161329 + Silent SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 g.chr3:141161329C>T c.99C>T c.(97-99)tgC>tgT p.C33C ESCA 3 141162094 141162094 + Silent SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 g.chr3:141162094C>G c.864C>G c.(862-864)tcC>tcG p.S288S ESCA 3 141162393 141162393 + Missense_Mutation SNP G G T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 g.chr3:141162393G>T c.1163G>T c.(1162-1164)cGg>cTg p.R388L ESCA 3 141163939 141163939 + Silent SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 g.chr3:141163939C>T c.2709C>T c.(2707-2709)ttC>ttT p.F903F ESCA 3 141164136 141164136 + Missense_Mutation SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr3:141164136A>G c.2906A>G c.(2905-2907)aAa>aGa p.K969R GBM 3 141162963 141162963 + Missense_Mutation SNP A A G TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 g.chr3:141162963A>G c.1733A>G c.(1732-1734)tAt>tGt p.Y578C GBM 3 141163945 141163945 + Silent SNP C C T TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 g.chr3:141163945C>T c.2715C>T c.(2713-2715)gaC>gaT p.D905D GBMLGG 3 141161619 141161619 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:141161619C>T c.389C>T c.(388-390)tCc>tTc p.S130F GBMLGG 3 141161791 141161791 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:141161791A>G c.561A>G c.(559-561)gcA>gcG p.A187A GBMLGG 3 141161851 141161851 + Silent SNP C C T TCGA-S9-A7QW-01A-11D-A34A-08 TCGA-S9-A7QW-10A-01D-A34A-08 g.chr3:141161851C>T c.621C>T c.(619-621)gaC>gaT p.D207D GBMLGG 3 141162963 141162963 + Missense_Mutation SNP A A G TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 g.chr3:141162963A>G c.1733A>G c.(1732-1734)tAt>tGt p.Y578C GBMLGG 3 141163945 141163945 + Silent SNP C C T TCGA-76-6192-01A-11D-1696-08 TCGA-76-6192-10A-01D-1696-08 g.chr3:141163945C>T c.2715C>T c.(2713-2715)gaC>gaT p.D905D GBMLGG 3 141163946 141163946 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:141163946G>A c.2716G>A c.(2716-2718)Gca>Aca p.A906T GBMLGG 3 141163946 141163946 + Missense_Mutation SNP G G A TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr3:141163946G>A c.2716G>A c.(2716-2718)Gca>Aca p.A906T GBMLGG 3 141164403 141164403 + Missense_Mutation SNP G G A TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr3:141164403G>A c.3173G>A c.(3172-3174)cGc>cAc p.R1058H HNSC 3 141161426 141161426 + Missense_Mutation SNP A A G TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 g.chr3:141161426A>G c.196A>G c.(196-198)Aca>Gca p.T66A HNSC 3 141161524 141161524 + Silent SNP C C G TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 g.chr3:141161524C>G c.294C>G c.(292-294)gtC>gtG p.V98V HNSC 3 141162473 141162473 + Missense_Mutation SNP A A G TCGA-CV-6952-01A-11D-1912-08 TCGA-CV-6952-10A-01D-1912-08 g.chr3:141162473A>G c.1243A>G c.(1243-1245)Att>Gtt p.I415V HNSC 3 141162830 141162830 + Missense_Mutation SNP C C T TCGA-IQ-A61E-01A-22D-A30E-08 TCGA-IQ-A61E-10A-01D-A30H-08 g.chr3:141162830C>T c.1600C>T c.(1600-1602)Cat>Tat p.H534Y HNSC 3 141163374 141163374 + Missense_Mutation SNP C C T TCGA-CR-7404-01A-11D-2129-08 TCGA-CR-7404-10A-01D-2129-08 g.chr3:141163374C>T c.2144C>T c.(2143-2145)tCg>tTg p.S715L HNSC 3 141163889 141163889 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr3:141163889A>T c.2659A>T c.(2659-2661)Agc>Tgc p.S887C HNSC 3 141163924 141163924 + Missense_Mutation SNP G G T TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 g.chr3:141163924G>T c.2694G>T c.(2692-2694)gaG>gaT p.E898D HNSC 3 141164305 141164305 + Silent SNP C C T TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 g.chr3:141164305C>T c.3075C>T c.(3073-3075)ctC>ctT p.L1025L HNSC 3 141164513 141164514 + Frame_Shift_Del DEL CA CA - TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 g.chr3:141164513_141164514delCA c.3283_3284delCA c.(3283-3285)cacfs p.H1095fs KIPAN 3 141161504 141161504 + Missense_Mutation SNP T T G TCGA-BP-4761-01A-01D-1366-10 TCGA-BP-4761-11A-01D-1366-10 g.chr3:141161504T>G c.274T>G c.(274-276)Tac>Gac p.Y92D KIPAN 3 141161609 141161609 + Missense_Mutation SNP T T C TCGA-BP-4970-01A-01D-1462-08 TCGA-BP-4970-11A-01D-1462-08 g.chr3:141161609T>C c.379T>C c.(379-381)Ttc>Ctc p.F127L KIPAN 3 141161785 141161785 + Missense_Mutation SNP G G T TCGA-CJ-4902-01A-01D-1429-08 TCGA-CJ-4902-11A-01D-1429-08 g.chr3:141161785G>T c.555G>T c.(553-555)ttG>ttT p.L185F KIPAN 3 141162052 141162058 + Frame_Shift_Del DEL TTCGGAT TTCGGAT - TCGA-P4-A5EB-01A-11D-A28G-10 TCGA-P4-A5EB-11A-11D-A28G-10 g.chr3:141162052_141162058delTTCGGAT c.822_828delTTCGGAT c.(820-828)gattcggatfs p.DSD274fs KIPAN 3 141162128 141162128 + Missense_Mutation SNP C C G TCGA-CJ-4874-01A-01D-1373-10 TCGA-CJ-4874-11A-01D-1373-10 g.chr3:141162128C>G c.898C>G c.(898-900)Cca>Gca p.P300A KIPAN 3 141163046 141163046 + Nonsense_Mutation SNP C C T TCGA-CZ-5989-01A-11D-1669-08 TCGA-CZ-5989-11A-01D-1669-08 g.chr3:141163046C>T c.1816C>T c.(1816-1818)Cag>Tag p.Q606* KIPAN 3 141163202 141163202 + Nonsense_Mutation SNP G G T TCGA-BP-4352-01A-01D-1366-10 TCGA-BP-4352-11A-01D-1366-10 g.chr3:141163202G>T c.1972G>T c.(1972-1974)Gag>Tag p.E658* KIPAN 3 141164552 141164552 + Missense_Mutation SNP A A G TCGA-BP-4160-01A-02D-1366-10 TCGA-BP-4160-11A-01D-1806-10 g.chr3:141164552A>G c.3322A>G c.(3322-3324)Acc>Gcc p.T1108A KIRC 3 141161504 141161504 + Missense_Mutation SNP T T G TCGA-BP-4761-01A-01D-1366-10 TCGA-BP-4761-11A-01D-1366-10 g.chr3:141161504T>G c.274T>G c.(274-276)Tac>Gac p.Y92D KIRC 3 141161609 141161609 + Missense_Mutation SNP T T C TCGA-BP-4970-01A-01D-1462-08 TCGA-BP-4970-11A-01D-1462-08 g.chr3:141161609T>C c.379T>C c.(379-381)Ttc>Ctc p.F127L KIRC 3 141161785 141161785 + Missense_Mutation SNP G G T TCGA-CJ-4902-01A-01D-1429-08 TCGA-CJ-4902-11A-01D-1429-08 g.chr3:141161785G>T c.555G>T c.(553-555)ttG>ttT p.L185F KIRC 3 141162128 141162128 + Missense_Mutation SNP C C G TCGA-CJ-4874-01A-01D-1373-10 TCGA-CJ-4874-11A-01D-1373-10 g.chr3:141162128C>G c.898C>G c.(898-900)Cca>Gca p.P300A KIRC 3 141163046 141163046 + Nonsense_Mutation SNP C C T TCGA-CZ-5989-01A-11D-1669-08 TCGA-CZ-5989-11A-01D-1669-08 g.chr3:141163046C>T c.1816C>T c.(1816-1818)Cag>Tag p.Q606* KIRC 3 141163202 141163202 + Nonsense_Mutation SNP G G T TCGA-BP-4352-01A-01D-1366-10 TCGA-BP-4352-11A-01D-1366-10 g.chr3:141163202G>T c.1972G>T c.(1972-1974)Gag>Tag p.E658* KIRC 3 141164552 141164552 + Missense_Mutation SNP A A G TCGA-BP-4160-01A-02D-1366-10 TCGA-BP-4160-11A-01D-1806-10 g.chr3:141164552A>G c.3322A>G c.(3322-3324)Acc>Gcc p.T1108A KIRP 3 141162052 141162058 + Frame_Shift_Del DEL TTCGGAT TTCGGAT - TCGA-P4-A5EB-01A-11D-A28G-10 TCGA-P4-A5EB-11A-11D-A28G-10 g.chr3:141162052_141162058delTTCGGAT c.822_828delTTCGGAT c.(820-828)gattcggatfs p.DSD274fs LGG 3 141161619 141161619 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:141161619C>T c.389C>T c.(388-390)tCc>tTc p.S130F LGG 3 141161791 141161791 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:141161791A>G c.561A>G c.(559-561)gcA>gcG p.A187A LGG 3 141161851 141161851 + Silent SNP C C T TCGA-S9-A7QW-01A-11D-A34A-08 TCGA-S9-A7QW-10A-01D-A34A-08 g.chr3:141161851C>T c.621C>T c.(619-621)gaC>gaT p.D207D LGG 3 141163946 141163946 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:141163946G>A c.2716G>A c.(2716-2718)Gca>Aca p.A906T LGG 3 141163946 141163946 + Missense_Mutation SNP G G A TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr3:141163946G>A c.2716G>A c.(2716-2718)Gca>Aca p.A906T LGG 3 141164403 141164403 + Missense_Mutation SNP G G A TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr3:141164403G>A c.3173G>A c.(3172-3174)cGc>cAc p.R1058H LIHC 3 141161744 141161744 + Missense_Mutation SNP G G A TCGA-DD-AACV-01A-11D-A40R-10 TCGA-DD-AACV-10A-01D-A40U-10 g.chr3:141161744G>A c.514G>A c.(514-516)Gaa>Aaa p.E172K LIHC 3 141162007 141162007 + Silent SNP A A G TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr3:141162007A>G c.777A>G c.(775-777)aaA>aaG p.K259K LIHC 3 141163098 141163098 + Missense_Mutation SNP A A G TCGA-RC-A7SB-01A-21D-A34Z-10 TCGA-RC-A7SB-10A-01D-A34Z-10 g.chr3:141163098A>G c.1868A>G c.(1867-1869)aAc>aGc p.N623S LIHC 3 141163168 141163168 + Silent SNP T T C TCGA-DD-AAW1-01A-11D-A40P-10 TCGA-DD-AAW1-10A-01D-A40P-10 g.chr3:141163168T>C c.1938T>C c.(1936-1938)aaT>aaC p.N646N LIHC 3 141164366 141164366 + Missense_Mutation SNP T T C TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr3:141164366T>C c.3136T>C c.(3136-3138)Tgc>Cgc p.C1046R LUAD 3 141161519 141161519 + Missense_Mutation SNP G G C TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr3:141161519G>C c.289G>C c.(289-291)Gtt>Ctt p.V97L LUAD 3 141162101 141162101 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr3:141162101G>A c.871G>A c.(871-873)Gag>Aag p.E291K LUAD 3 141162113 141162113 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr3:141162113G>A c.883G>A c.(883-885)Gaa>Aaa p.E295K LUAD 3 141162117 141162117 + Missense_Mutation SNP G G A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr3:141162117G>A c.887G>A c.(886-888)aGa>aAa p.R296K LUAD 3 141163054 141163054 + Silent SNP A A T TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr3:141163054A>T c.1824A>T c.(1822-1824)ccA>ccT p.P608P LUAD 3 141163939 141163939 + Silent SNP C C T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 g.chr3:141163939C>T c.2709C>T c.(2707-2709)ttC>ttT p.F903F LUAD 3 141164114 141164114 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr3:141164114G>T c.2884G>T c.(2884-2886)Gtg>Ttg p.V962L LUAD 3 141164465 141164465 + Missense_Mutation SNP G G A TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr3:141164465G>A c.3235G>A c.(3235-3237)Gag>Aag p.E1079K LUSC 3 141161660 141161660 + Missense_Mutation SNP G G A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 g.chr3:141161660G>A c.430G>A c.(430-432)Gtt>Att p.V144I LUSC 3 141161800 141161800 + Silent SNP A A G TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 g.chr3:141161800A>G c.570A>G c.(568-570)aaA>aaG p.K190K LUSC 3 141163129 141163129 + Missense_Mutation SNP G G T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr3:141163129G>T c.1899G>T c.(1897-1899)ttG>ttT p.L633F LUSC 3 141163318 141163318 + Missense_Mutation SNP G G C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 g.chr3:141163318G>C c.2088G>C c.(2086-2088)ttG>ttC p.L696F LUSC 3 141163969 141163969 + Missense_Mutation SNP C C A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 g.chr3:141163969C>A c.2739C>A c.(2737-2739)gaC>gaA p.D913E LUSC 3 141164615 141164615 + Nonsense_Mutation SNP C C T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 g.chr3:141164615C>T c.3385C>T c.(3385-3387)Cag>Tag p.Q1129* LUSC 3 141164623 141164623 + Silent SNP C C A TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr3:141164623C>A c.3393C>A c.(3391-3393)ccC>ccA p.P1131P OV 3 141163185 141163185 + Missense_Mutation SNP G G A TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 g.chr3:141163185G>A c.1955G>A c.(1954-1956)gGt>gAt p.G652D OV 3 141163991 141163991 + Missense_Mutation SNP A A G TCGA-20-0990-01A-01W-0486-08 TCGA-20-0990-10A-01W-0486-08 g.chr3:141163991A>G c.2761A>G c.(2761-2763)Aac>Gac p.N921D OV 3 141164553 141164553 + Missense_Mutation SNP C C A TCGA-24-1103-01A-01W-0488-09 TCGA-24-1103-10A-01W-0488-09 g.chr3:141164553C>A c.3323C>A c.(3322-3324)aCc>aAc p.T1108N PAAD 3 141163088 141163088 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:141163088G>T c.1858G>T c.(1858-1860)Gat>Tat p.D620Y PAAD 3 141163339 141163339 + Silent SNP C C T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 g.chr3:141163339C>T c.2109C>T c.(2107-2109)gcC>gcT p.A703A PAAD 3 141163405 141163405 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:141163405G>A c.2175G>A c.(2173-2175)tcG>tcA p.S725S PAAD 3 141163589 141163589 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:141163589G>A c.2359G>A c.(2359-2361)Gaa>Aaa p.E787K PAAD 3 141163596 141163596 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:141163596C>T c.2366C>T c.(2365-2367)cCg>cTg p.P789L PRAD 3 141161343 141161343 + Missense_Mutation SNP T T C TCGA-EJ-5516-01A-01D-1576-08 TCGA-EJ-5516-10A-01D-1577-08 g.chr3:141161343T>C c.113T>C c.(112-114)aTt>aCt p.I38T SKCM 3 141161981 141161981 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr3:141161981G>A c.751G>A c.(751-753)Gaa>Aaa p.E251K SKCM 3 141162239 141162239 + Missense_Mutation SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr3:141162239G>A c.1009G>A c.(1009-1011)Gtt>Att p.V337I SKCM 3 141162801 141162801 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr3:141162801C>T c.1571C>T c.(1570-1572)aCt>aTt p.T524I SKCM 3 141162981 141162981 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr3:141162981C>T c.1751C>T c.(1750-1752)tCt>tTt p.S584F SKCM 3 141163062 141163062 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr3:141163062C>T c.1832C>T c.(1831-1833)tCt>tTt p.S611F SKCM 3 141163288 141163288 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr3:141163288C>T c.2058C>T c.(2056-2058)ctC>ctT p.L686L SKCM 3 141163850 141163850 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:141163850C>T c.2620C>T c.(2620-2622)Cct>Tct p.P874S SKCM 3 141163939 141163939 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:141163939C>T c.2709C>T c.(2707-2709)ttC>ttT p.F903F SKCM 3 141164020 141164020 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr3:141164020G>A c.2790G>A c.(2788-2790)caG>caA p.Q930Q SKCM 3 141164718 141164718 + Missense_Mutation SNP A A T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 g.chr3:141164718A>T c.3488A>T c.(3487-3489)cAc>cTc p.H1163L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 3 141161237 141161237 single base substitution G A missense_variant V3I 7G>A BLCA-US 3 141161237 141161237 single base substitution G A missense_variant V4I 10G>A BLCA-US 3 141161237 141161237 single base substitution G A upstream_gene_variant BLCA-US 3 141161785 141161785 single base substitution G C downstream_gene_variant BLCA-US 3 141161785 141161785 single base substitution G C missense_variant L185F 555G>C BLCA-US 3 141161785 141161785 single base substitution G C missense_variant L186F 558G>C BLCA-US 3 141161785 141161785 single base substitution G C upstream_gene_variant BLCA-US 3 141162247 141162247 single base substitution T G downstream_gene_variant BLCA-US 3 141162247 141162247 single base substitution T G synonymous_variant P339P 1017T>G BLCA-US 3 141162247 141162247 single base substitution T G synonymous_variant P340P 1020T>G BLCA-US 3 141162247 141162247 single base substitution T G upstream_gene_variant BLCA-US 3 141162438 141162438 single base substitution G C downstream_gene_variant BLCA-US 3 141162438 141162438 single base substitution G C missense_variant G403A 1208G>C BLCA-US 3 141162438 141162438 single base substitution G C missense_variant G404A 1211G>C BLCA-US 3 141162438 141162438 single base substitution G C upstream_gene_variant BLCA-US 3 141163197 141163197 single base substitution G T downstream_gene_variant BLCA-US 3 141163197 141163197 single base substitution G T missense_variant G656V 1967G>T BLCA-US 3 141163197 141163197 single base substitution G T missense_variant G657V 1970G>T BLCA-US 3 141163197 141163197 single base substitution G T upstream_gene_variant BLCA-US 3 141163550 141163550 single base substitution A G downstream_gene_variant BLCA-US 3 141163550 141163550 single base substitution A G missense_variant I774V 2320A>G BLCA-US 3 141163550 141163550 single base substitution A G missense_variant I775V 2323A>G BLCA-US 3 141163550 141163550 single base substitution A G upstream_gene_variant BOCA-FR 3 141074228 141074228 single base substitution A G intron_variant BRCA-EU 3 141038846 141038846 single base substitution G T upstream_gene_variant BRCA-EU 3 141039633 141039633 single base substitution G T upstream_gene_variant BRCA-EU 3 141039750 141039750 single base substitution C T upstream_gene_variant BRCA-EU 3 141039800 141039800 single base substitution T G upstream_gene_variant BRCA-EU 3 141040410 141040410 single base substitution G C upstream_gene_variant BRCA-EU 3 141040566 141040566 single base substitution C T upstream_gene_variant BRCA-EU 3 141041674 141041674 single base substitution G T upstream_gene_variant BRCA-EU 3 141042474 141042474 single base substitution T C upstream_gene_variant BRCA-EU 3 141043070 141043070 single base substitution G T 5_prime_UTR_variant BRCA-EU 3 141043305 141043305 single base substitution G C intron_variant BRCA-EU 3 141043924 141043924 single base substitution G C intron_variant BRCA-EU 3 141044007 141044007 single base substitution A G intron_variant BRCA-EU 3 141044176 141044176 single base substitution G T intron_variant BRCA-EU 3 141044621 141044621 single base substitution C G intron_variant BRCA-EU 3 141045516 141045516 single base substitution G C intron_variant BRCA-EU 3 141045856 141045856 deletion of <=200bp T - intron_variant BRCA-EU 3 141045892 141045892 single base substitution A T intron_variant BRCA-EU 3 141049217 141049217 single base substitution A C intron_variant BRCA-EU 3 141049773 141049773 single base substitution T C intron_variant BRCA-EU 3 141052352 141052352 single base substitution G C intron_variant BRCA-EU 3 141052828 141052828 single base substitution G A intron_variant BRCA-EU 3 141053396 141053396 single base substitution C T intron_variant BRCA-EU 3 141054052 141054052 single base substitution G A intron_variant BRCA-EU 3 141055345 141055345 deletion of <=200bp T - intron_variant BRCA-EU 3 141055879 141055879 single base substitution T C intron_variant BRCA-EU 3 141056781 141056781 single base substitution C T intron_variant BRCA-EU 3 141059101 141059101 single base substitution G A intron_variant BRCA-EU 3 141060470 141060470 single base substitution G A intron_variant BRCA-EU 3 141063165 141063165 single base substitution G T intron_variant BRCA-EU 3 141064563 141064563 single base substitution G T intron_variant BRCA-EU 3 141065046 141065046 single base substitution A C intron_variant BRCA-EU 3 141067378 141067378 single base substitution C A intron_variant BRCA-EU 3 141067896 141067896 single base substitution C T intron_variant BRCA-EU 3 141070300 141070300 single base substitution G C intron_variant BRCA-EU 3 141070429 141070429 single base substitution G A intron_variant BRCA-EU 3 141070753 141070753 single base substitution C A intron_variant BRCA-EU 3 141071317 141071317 single base substitution G T intron_variant BRCA-EU 3 141072140 141072140 single base substitution G T intron_variant BRCA-EU 3 141073164 141073164 single base substitution C G intron_variant BRCA-EU 3 141074221 141074221 single base substitution C G intron_variant BRCA-EU 3 141075059 141075059 single base substitution C A intron_variant BRCA-EU 3 141075521 141075521 single base substitution C G intron_variant BRCA-EU 3 141075587 141075587 single base substitution G A intron_variant BRCA-EU 3 141076475 141076475 single base substitution G A intron_variant BRCA-EU 3 141077520 141077520 single base substitution C G intron_variant BRCA-EU 3 141078020 141078020 single base substitution C G intron_variant BRCA-EU 3 141080896 141080896 single base substitution C G intron_variant BRCA-EU 3 141081034 141081034 single base substitution C T intron_variant BRCA-EU 3 141081222 141081222 single base substitution G T intron_variant BRCA-EU 3 141081464 141081464 single base substitution C G intron_variant BRCA-EU 3 141082739 141082739 single base substitution T C intron_variant BRCA-EU 3 141082739 141082739 single base substitution T C upstream_gene_variant BRCA-EU 3 141082807 141082807 single base substitution A T intron_variant BRCA-EU 3 141082807 141082807 single base substitution A T upstream_gene_variant BRCA-EU 3 141084204 141084204 single base substitution G A intron_variant BRCA-EU 3 141084204 141084204 single base substitution G A upstream_gene_variant BRCA-EU 3 141084279 141084279 single base substitution G C intron_variant BRCA-EU 3 141084279 141084279 single base substitution G C upstream_gene_variant BRCA-EU 3 141085271 141085271 insertion of <=200bp - A intron_variant BRCA-EU 3 141085271 141085271 insertion of <=200bp - A upstream_gene_variant BRCA-EU 3 141088243 141088243 single base substitution C T intron_variant BRCA-EU 3 141088789 141088792 deletion of <=200bp GTAA - splice_donor_variant BRCA-EU 3 141091329 141091329 deletion of <=200bp A - intron_variant BRCA-EU 3 141091357 141091357 single base substitution G T intron_variant BRCA-EU 3 141091811 141091811 single base substitution G A intron_variant BRCA-EU 3 141092019 141092019 single base substitution G C intron_variant BRCA-EU 3 141092100 141092100 single base substitution T C intron_variant BRCA-EU 3 141092410 141092410 single base substitution A G intron_variant BRCA-EU 3 141092913 141092913 single base substitution G C intron_variant BRCA-EU 3 141093203 141093203 single base substitution C T intron_variant BRCA-EU 3 141093503 141093503 single base substitution G T intron_variant BRCA-EU 3 141094847 141094847 single base substitution A G intron_variant BRCA-EU 3 141095985 141095985 single base substitution C T intron_variant BRCA-EU 3 141096070 141096070 deletion of <=200bp C - intron_variant BRCA-EU 3 141096330 141096330 single base substitution C T intron_variant BRCA-EU 3 141096987 141096987 single base substitution C G intron_variant BRCA-EU 3 141097670 141097670 single base substitution G A intron_variant BRCA-EU 3 141099878 141099878 single base substitution A T intron_variant BRCA-EU 3 141099878 141099878 single base substitution A T upstream_gene_variant BRCA-EU 3 141101016 141101016 single base substitution G C intron_variant BRCA-EU 3 141101016 141101016 single base substitution G C upstream_gene_variant BRCA-EU 3 141101408 141101408 single base substitution A C intron_variant BRCA-EU 3 141101408 141101408 single base substitution A C upstream_gene_variant BRCA-EU 3 141102157 141102157 single base substitution C T intron_variant BRCA-EU 3 141102157 141102157 single base substitution C T upstream_gene_variant BRCA-EU 3 141102252 141102252 single base substitution C A intron_variant BRCA-EU 3 141102252 141102252 single base substitution C A upstream_gene_variant BRCA-EU 3 141103844 141103844 single base substitution G A intron_variant BRCA-EU 3 141103844 141103844 single base substitution G A upstream_gene_variant BRCA-EU 3 141104175 141104175 single base substitution T G intron_variant BRCA-EU 3 141104175 141104175 single base substitution T G upstream_gene_variant BRCA-EU 3 141104382 141104382 single base substitution C T intron_variant BRCA-EU 3 141104382 141104382 single base substitution C T upstream_gene_variant BRCA-EU 3 141105264 141105264 single base substitution G C intron_variant BRCA-EU 3 141105264 141105264 single base substitution G C upstream_gene_variant BRCA-EU 3 141105332 141105332 single base substitution T G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 3 141105332 141105332 single base substitution T G exon_variant BRCA-EU 3 141105332 141105332 single base substitution T G intron_variant BRCA-EU 3 141105332 141105332 single base substitution T G upstream_gene_variant BRCA-EU 3 141106025 141106025 single base substitution C A exon_variant BRCA-EU 3 141106025 141106025 single base substitution C A intron_variant BRCA-EU 3 141106025 141106025 single base substitution C A upstream_gene_variant BRCA-EU 3 141106758 141106758 insertion of <=200bp - T downstream_gene_variant BRCA-EU 3 141106758 141106758 insertion of <=200bp - T exon_variant BRCA-EU 3 141106758 141106758 insertion of <=200bp - T intron_variant BRCA-EU 3 141107419 141107419 single base substitution C G downstream_gene_variant BRCA-EU 3 141107419 141107419 single base substitution C G exon_variant BRCA-EU 3 141107419 141107419 single base substitution C G intron_variant BRCA-EU 3 141108043 141108043 single base substitution T C downstream_gene_variant BRCA-EU 3 141108043 141108043 single base substitution T C exon_variant BRCA-EU 3 141108043 141108043 single base substitution T C intron_variant BRCA-EU 3 141108746 141108746 single base substitution C T downstream_gene_variant BRCA-EU 3 141108746 141108746 single base substitution C T intron_variant BRCA-EU 3 141109278 141109278 single base substitution A G downstream_gene_variant BRCA-EU 3 141109278 141109278 single base substitution A G intron_variant BRCA-EU 3 141109888 141109888 single base substitution G C downstream_gene_variant BRCA-EU 3 141109888 141109888 single base substitution G C intron_variant BRCA-EU 3 141110381 141110381 single base substitution G A downstream_gene_variant BRCA-EU 3 141110381 141110381 single base substitution G A intron_variant BRCA-EU 3 141111369 141111369 single base substitution G A downstream_gene_variant BRCA-EU 3 141111369 141111369 single base substitution G A intron_variant BRCA-EU 3 141111756 141111756 single base substitution G A downstream_gene_variant BRCA-EU 3 141111756 141111756 single base substitution G A intron_variant BRCA-EU 3 141112187 141112187 single base substitution G C downstream_gene_variant BRCA-EU 3 141112187 141112187 single base substitution G C intron_variant BRCA-EU 3 141112285 141112285 single base substitution A G downstream_gene_variant BRCA-EU 3 141112285 141112285 single base substitution A G intron_variant BRCA-EU 3 141112286 141112286 insertion of <=200bp - T downstream_gene_variant BRCA-EU 3 141112286 141112286 insertion of <=200bp - T intron_variant BRCA-EU 3 141114543 141114543 single base substitution G A downstream_gene_variant BRCA-EU 3 141114543 141114543 single base substitution G A intron_variant BRCA-EU 3 141115179 141115179 single base substitution A G 5_prime_UTR_variant BRCA-EU 3 141115179 141115179 single base substitution A G downstream_gene_variant BRCA-EU 3 141115179 141115179 single base substitution A G intron_variant BRCA-EU 3 141117489 141117489 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 141117489 141117489 deletion of <=200bp T - intron_variant BRCA-EU 3 141117489 141117489 deletion of <=200bp T - upstream_gene_variant BRCA-EU 3 141118940 141118940 single base substitution G C intron_variant BRCA-EU 3 141118940 141118940 single base substitution G C upstream_gene_variant BRCA-EU 3 141119583 141119583 single base substitution G C intron_variant BRCA-EU 3 141119583 141119583 single base substitution G C upstream_gene_variant BRCA-EU 3 141121708 141121708 single base substitution C T 5_prime_UTR_variant BRCA-EU 3 141121708 141121708 single base substitution C T intron_variant BRCA-EU 3 141122080 141122080 single base substitution C G intron_variant BRCA-EU 3 141122481 141122481 single base substitution G A intron_variant BRCA-EU 3 141122796 141122796 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 3 141122796 141122796 single base substitution C G exon_variant BRCA-EU 3 141123783 141123783 single base substitution G A downstream_gene_variant BRCA-EU 3 141123783 141123783 single base substitution G A intron_variant BRCA-EU 3 141124470 141124470 single base substitution G C downstream_gene_variant BRCA-EU 3 141124470 141124470 single base substitution G C intron_variant BRCA-EU 3 141125043 141125043 single base substitution G T downstream_gene_variant BRCA-EU 3 141125043 141125043 single base substitution G T intron_variant BRCA-EU 3 141127690 141127690 single base substitution T C downstream_gene_variant BRCA-EU 3 141127690 141127690 single base substitution T C intron_variant BRCA-EU 3 141128196 141128196 single base substitution G C downstream_gene_variant BRCA-EU 3 141128196 141128196 single base substitution G C intron_variant BRCA-EU 3 141129035 141129035 single base substitution C T downstream_gene_variant BRCA-EU 3 141129035 141129035 single base substitution C T intron_variant BRCA-EU 3 141129085 141129085 single base substitution C G downstream_gene_variant BRCA-EU 3 141129085 141129085 single base substitution C G intron_variant BRCA-EU 3 141129582 141129582 single base substitution C T downstream_gene_variant BRCA-EU 3 141129582 141129582 single base substitution C T intron_variant BRCA-EU 3 141130097 141130097 single base substitution T C intron_variant BRCA-EU 3 141131351 141131351 single base substitution G C intron_variant BRCA-EU 3 141132567 141132567 single base substitution A T intron_variant BRCA-EU 3 141134049 141134049 single base substitution A G intron_variant BRCA-EU 3 141134609 141134609 single base substitution G T intron_variant BRCA-EU 3 141134619 141134619 single base substitution C G intron_variant BRCA-EU 3 141134749 141134749 deletion of <=200bp G - intron_variant BRCA-EU 3 141138468 141138468 single base substitution G T intron_variant BRCA-EU 3 141138830 141138830 deletion of <=200bp A - intron_variant BRCA-EU 3 141139240 141139240 single base substitution G C intron_variant BRCA-EU 3 141139515 141139515 single base substitution T C intron_variant BRCA-EU 3 141141658 141141658 single base substitution C A intron_variant BRCA-EU 3 141141658 141141658 single base substitution C A upstream_gene_variant BRCA-EU 3 141143162 141143162 single base substitution A T intron_variant BRCA-EU 3 141143162 141143162 single base substitution A T upstream_gene_variant BRCA-EU 3 141144947 141144947 single base substitution C G intron_variant BRCA-EU 3 141144947 141144947 single base substitution C G upstream_gene_variant BRCA-EU 3 141146104 141146104 single base substitution C G intron_variant BRCA-EU 3 141146104 141146104 single base substitution C G upstream_gene_variant BRCA-EU 3 141147172 141147172 single base substitution T G intron_variant BRCA-EU 3 141147172 141147172 single base substitution T G upstream_gene_variant BRCA-EU 3 141147598 141147598 single base substitution G A intron_variant BRCA-EU 3 141147598 141147598 single base substitution G A upstream_gene_variant BRCA-EU 3 141148937 141148937 single base substitution C T intron_variant BRCA-EU 3 141148937 141148937 single base substitution C T upstream_gene_variant BRCA-EU 3 141150717 141150717 single base substitution G C 5_prime_UTR_variant BRCA-EU 3 141150717 141150717 single base substitution G C intron_variant BRCA-EU 3 141151817 141151833 deletion of <=200bp GAACAATTTTCACCTGT - intron_variant BRCA-EU 3 141151837 141151837 single base substitution T C intron_variant BRCA-EU 3 141153348 141153348 single base substitution C T intron_variant BRCA-EU 3 141155140 141155140 single base substitution T C intron_variant BRCA-EU 3 141155670 141155670 single base substitution C G intron_variant BRCA-EU 3 141156387 141156387 single base substitution G A intron_variant BRCA-EU 3 141156595 141156595 single base substitution G C intron_variant BRCA-EU 3 141157535 141157535 insertion of <=200bp - T intron_variant BRCA-EU 3 141160225 141160225 single base substitution C T intron_variant BRCA-EU 3 141160631 141160631 single base substitution A C intron_variant BRCA-EU 3 141161260 141161260 single base substitution C G synonymous_variant L10L 30C>G BRCA-EU 3 141161260 141161260 single base substitution C G synonymous_variant L11L 33C>G BRCA-EU 3 141161260 141161260 single base substitution C G upstream_gene_variant BRCA-EU 3 141162853 141162853 single base substitution C T downstream_gene_variant BRCA-EU 3 141162853 141162853 single base substitution C T synonymous_variant I541I 1623C>T BRCA-EU 3 141162853 141162853 single base substitution C T synonymous_variant I542I 1626C>T BRCA-EU 3 141162853 141162853 single base substitution C T upstream_gene_variant BRCA-EU 3 141163650 141163650 single base substitution A T downstream_gene_variant BRCA-EU 3 141163650 141163650 single base substitution A T missense_variant N807I 2420A>T BRCA-EU 3 141163650 141163650 single base substitution A T missense_variant N808I 2423A>T BRCA-EU 3 141163650 141163650 single base substitution A T upstream_gene_variant BRCA-EU 3 141163849 141163849 single base substitution G A downstream_gene_variant BRCA-EU 3 141163849 141163849 single base substitution G A synonymous_variant E873E 2619G>A BRCA-EU 3 141163849 141163849 single base substitution G A synonymous_variant E874E 2622G>A BRCA-EU 3 141163849 141163849 single base substitution G A upstream_gene_variant BRCA-EU 3 141165392 141165392 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 141165392 141165392 single base substitution G C downstream_gene_variant BRCA-EU 3 141165392 141165392 single base substitution G C upstream_gene_variant BRCA-EU 3 141166361 141166361 single base substitution C A 3_prime_UTR_variant BRCA-EU 3 141166361 141166361 single base substitution C A downstream_gene_variant BRCA-EU 3 141166361 141166361 single base substitution C A intron_variant BRCA-EU 3 141166402 141166402 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 141166402 141166402 single base substitution G C downstream_gene_variant BRCA-EU 3 141166402 141166402 single base substitution G C intron_variant BRCA-EU 3 141166461 141166461 single base substitution T C 3_prime_UTR_variant BRCA-EU 3 141166461 141166461 single base substitution T C downstream_gene_variant BRCA-EU 3 141166461 141166461 single base substitution T C intron_variant BRCA-EU 3 141166851 141166851 single base substitution A G 3_prime_UTR_variant BRCA-EU 3 141166851 141166851 single base substitution A G downstream_gene_variant BRCA-EU 3 141167048 141167048 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 3 141167048 141167048 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 141167139 141167139 single base substitution C A 3_prime_UTR_variant BRCA-EU 3 141167139 141167139 single base substitution C A downstream_gene_variant BRCA-EU 3 141168501 141168501 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 141168501 141168501 single base substitution G C downstream_gene_variant BRCA-EU 3 141169416 141169416 single base substitution C A downstream_gene_variant BRCA-EU 3 141169486 141169486 single base substitution T C downstream_gene_variant BRCA-EU 3 141171165 141171165 single base substitution G C downstream_gene_variant BRCA-EU 3 141171386 141171386 single base substitution T A downstream_gene_variant BRCA-EU 3 141172024 141172024 single base substitution C T downstream_gene_variant BRCA-EU 3 141172122 141172122 single base substitution G A downstream_gene_variant BRCA-EU 3 141172874 141172874 single base substitution G T downstream_gene_variant BRCA-FR 3 141043994 141043994 single base substitution T C intron_variant BRCA-FR 3 141049773 141049773 single base substitution T C intron_variant BRCA-FR 3 141056781 141056781 single base substitution C T intron_variant BRCA-FR 3 141070229 141070229 single base substitution C A intron_variant BRCA-FR 3 141088212 141088212 single base substitution G A intron_variant BRCA-FR 3 141102252 141102252 single base substitution C A intron_variant BRCA-FR 3 141102252 141102252 single base substitution C A upstream_gene_variant BRCA-FR 3 141111756 141111756 single base substitution G A downstream_gene_variant BRCA-FR 3 141111756 141111756 single base substitution G A intron_variant BRCA-FR 3 141112187 141112187 single base substitution G C downstream_gene_variant BRCA-FR 3 141112187 141112187 single base substitution G C intron_variant BRCA-FR 3 141115179 141115179 single base substitution A G 5_prime_UTR_variant BRCA-FR 3 141115179 141115179 single base substitution A G downstream_gene_variant BRCA-FR 3 141115179 141115179 single base substitution A G intron_variant BRCA-FR 3 141118940 141118940 single base substitution G C intron_variant BRCA-FR 3 141118940 141118940 single base substitution G C upstream_gene_variant BRCA-FR 3 141123783 141123783 single base substitution G A downstream_gene_variant BRCA-FR 3 141123783 141123783 single base substitution G A intron_variant BRCA-FR 3 141131979 141131979 single base substitution G T intron_variant BRCA-FR 3 141134049 141134049 single base substitution A G intron_variant BRCA-FR 3 141144947 141144947 single base substitution C G intron_variant BRCA-FR 3 141144947 141144947 single base substitution C G upstream_gene_variant BRCA-FR 3 141159705 141159705 single base substitution G A intron_variant BRCA-FR 3 141159720 141159720 single base substitution A G intron_variant BRCA-FR 3 141165129 141165129 single base substitution A T 3_prime_UTR_variant BRCA-FR 3 141165129 141165129 single base substitution A T downstream_gene_variant BRCA-FR 3 141165129 141165129 single base substitution A T upstream_gene_variant BRCA-FR 3 141166461 141166461 single base substitution T C 3_prime_UTR_variant BRCA-FR 3 141166461 141166461 single base substitution T C downstream_gene_variant BRCA-FR 3 141166461 141166461 single base substitution T C intron_variant BRCA-UK 3 141065046 141065046 single base substitution A C intron_variant BRCA-UK 3 141071659 141071659 single base substitution C G intron_variant BRCA-UK 3 141072090 141072090 single base substitution C G intron_variant BRCA-UK 3 141077759 141077759 single base substitution G A intron_variant BRCA-UK 3 141081034 141081034 single base substitution C T intron_variant BRCA-UK 3 141081464 141081464 single base substitution C G intron_variant BRCA-UK 3 141093522 141093522 single base substitution G A intron_variant BRCA-UK 3 141099878 141099878 single base substitution A T intron_variant BRCA-UK 3 141099878 141099878 single base substitution A T upstream_gene_variant BRCA-UK 3 141132567 141132567 single base substitution A T intron_variant BRCA-UK 3 141162458 141162458 single base substitution G A downstream_gene_variant BRCA-UK 3 141162458 141162458 single base substitution G A missense_variant E410K 1228G>A BRCA-UK 3 141162458 141162458 single base substitution G A missense_variant E411K 1231G>A BRCA-UK 3 141162458 141162458 single base substitution G A upstream_gene_variant BRCA-UK 3 141163652 141163652 single base substitution A G downstream_gene_variant BRCA-UK 3 141163652 141163652 single base substitution A G missense_variant I808V 2422A>G BRCA-UK 3 141163652 141163652 single base substitution A G missense_variant I809V 2425A>G BRCA-UK 3 141163652 141163652 single base substitution A G upstream_gene_variant BRCA-US 3 141161656 141161656 single base substitution A C downstream_gene_variant BRCA-US 3 141161656 141161656 single base substitution A C synonymous_variant G142G 426A>C BRCA-US 3 141161656 141161656 single base substitution A C synonymous_variant G143G 429A>C BRCA-US 3 141161656 141161656 single base substitution A C upstream_gene_variant BRCA-US 3 141162010 141162010 single base substitution G A downstream_gene_variant BRCA-US 3 141162010 141162010 single base substitution G A synonymous_variant P260P 780G>A BRCA-US 3 141162010 141162010 single base substitution G A synonymous_variant P261P 783G>A BRCA-US 3 141162010 141162010 single base substitution G A upstream_gene_variant BRCA-US 3 141162042 141162042 single base substitution T G downstream_gene_variant BRCA-US 3 141162042 141162042 single base substitution T G missense_variant I271R 812T>G BRCA-US 3 141162042 141162042 single base substitution T G missense_variant I272R 815T>G BRCA-US 3 141162042 141162042 single base substitution T G upstream_gene_variant BRCA-US 3 141162374 141162374 single base substitution A C downstream_gene_variant BRCA-US 3 141162374 141162374 single base substitution A C missense_variant T382P 1144A>C BRCA-US 3 141162374 141162374 single base substitution A C missense_variant T383P 1147A>C BRCA-US 3 141162374 141162374 single base substitution A C upstream_gene_variant BRCA-US 3 141162773 141162773 single base substitution C T downstream_gene_variant BRCA-US 3 141162773 141162773 single base substitution C T stop_gained R515* 1543C>T BRCA-US 3 141162773 141162773 single base substitution C T stop_gained R516* 1546C>T BRCA-US 3 141162773 141162773 single base substitution C T upstream_gene_variant BRCA-US 3 141163018 141163018 single base substitution T C downstream_gene_variant BRCA-US 3 141163018 141163018 single base substitution T C synonymous_variant N596N 1788T>C BRCA-US 3 141163018 141163018 single base substitution T C synonymous_variant N597N 1791T>C BRCA-US 3 141163018 141163018 single base substitution T C upstream_gene_variant BRCA-US 3 141164333 141164333 single base substitution G A downstream_gene_variant BRCA-US 3 141164333 141164333 single base substitution G A missense_variant E1035K 3103G>A BRCA-US 3 141164333 141164333 single base substitution G A missense_variant E1036K 3106G>A BRCA-US 3 141164333 141164333 single base substitution G A upstream_gene_variant BRCA-US 3 141164487 141164487 insertion of <=200bp - A downstream_gene_variant BRCA-US 3 141164487 141164487 insertion of <=200bp - A frameshift_variant R1086K? BRCA-US 3 141164487 141164487 insertion of <=200bp - A frameshift_variant R1087K? BRCA-US 3 141164487 141164487 insertion of <=200bp - A upstream_gene_variant BRCA-US 3 141164738 141164738 single base substitution G A downstream_gene_variant BRCA-US 3 141164738 141164738 single base substitution G A missense_variant E1170K 3508G>A BRCA-US 3 141164738 141164738 single base substitution G A missense_variant E1171K 3511G>A BRCA-US 3 141164738 141164738 single base substitution G A upstream_gene_variant BTCA-JP 3 141162875 141162875 deletion of <=200bp A - downstream_gene_variant BTCA-JP 3 141162875 141162875 deletion of <=200bp A - frameshift_variant K549 BTCA-JP 3 141162875 141162875 deletion of <=200bp A - frameshift_variant K550 BTCA-JP 3 141162875 141162875 deletion of <=200bp A - upstream_gene_variant CESC-US 3 141161572 141161572 single base substitution G A downstream_gene_variant CESC-US 3 141161572 141161572 single base substitution G A synonymous_variant L114L 342G>A CESC-US 3 141161572 141161572 single base substitution G A synonymous_variant L115L 345G>A CESC-US 3 141161572 141161572 single base substitution G A upstream_gene_variant CESC-US 3 141161785 141161785 single base substitution G C downstream_gene_variant CESC-US 3 141161785 141161785 single base substitution G C missense_variant L185F 555G>C CESC-US 3 141161785 141161785 single base substitution G C missense_variant L186F 558G>C CESC-US 3 141161785 141161785 single base substitution G C upstream_gene_variant CESC-US 3 141161907 141161907 single base substitution C G downstream_gene_variant CESC-US 3 141161907 141161907 single base substitution C G missense_variant S226C 677C>G CESC-US 3 141161907 141161907 single base substitution C G missense_variant S227C 680C>G CESC-US 3 141161907 141161907 single base substitution C G upstream_gene_variant CESC-US 3 141162301 141162301 single base substitution C G downstream_gene_variant CESC-US 3 141162301 141162301 single base substitution C G synonymous_variant L357L 1071C>G CESC-US 3 141162301 141162301 single base substitution C G synonymous_variant L358L 1074C>G CESC-US 3 141162301 141162301 single base substitution C G upstream_gene_variant CESC-US 3 141162660 141162660 single base substitution G C downstream_gene_variant CESC-US 3 141162660 141162660 single base substitution G C missense_variant R477T 1430G>C CESC-US 3 141162660 141162660 single base substitution G C missense_variant R478T 1433G>C CESC-US 3 141162660 141162660 single base substitution G C upstream_gene_variant CESC-US 3 141162767 141162767 single base substitution G A downstream_gene_variant CESC-US 3 141162767 141162767 single base substitution G A missense_variant E513K 1537G>A CESC-US 3 141162767 141162767 single base substitution G A missense_variant E514K 1540G>A CESC-US 3 141162767 141162767 single base substitution G A upstream_gene_variant CESC-US 3 141162891 141162891 single base substitution G A downstream_gene_variant CESC-US 3 141162891 141162891 single base substitution G A missense_variant G554E 1661G>A CESC-US 3 141162891 141162891 single base substitution G A missense_variant G555E 1664G>A CESC-US 3 141162891 141162891 single base substitution G A upstream_gene_variant CESC-US 3 141164162 141164162 single base substitution G C downstream_gene_variant CESC-US 3 141164162 141164162 single base substitution G C missense_variant E978Q 2932G>C CESC-US 3 141164162 141164162 single base substitution G C missense_variant E979Q 2935G>C CESC-US 3 141164162 141164162 single base substitution G C upstream_gene_variant CESC-US 3 141164487 141164487 single base substitution G C downstream_gene_variant CESC-US 3 141164487 141164487 single base substitution G C missense_variant R1086T 3257G>C CESC-US 3 141164487 141164487 single base substitution G C missense_variant R1087T 3260G>C CESC-US 3 141164487 141164487 single base substitution G C upstream_gene_variant CESC-US 3 141164491 141164491 single base substitution C T downstream_gene_variant CESC-US 3 141164491 141164491 single base substitution C T synonymous_variant I1087I 3261C>T CESC-US 3 141164491 141164491 single base substitution C T synonymous_variant I1088I 3264C>T CESC-US 3 141164491 141164491 single base substitution C T upstream_gene_variant CLLE-ES 3 141077690 141077690 single base substitution C T intron_variant CLLE-ES 3 141106930 141106930 single base substitution T C downstream_gene_variant CLLE-ES 3 141106930 141106930 single base substitution T C exon_variant CLLE-ES 3 141106930 141106930 single base substitution T C intron_variant CLLE-ES 3 141117856 141117856 single base substitution C T downstream_gene_variant CLLE-ES 3 141117856 141117856 single base substitution C T intron_variant CLLE-ES 3 141117856 141117856 single base substitution C T upstream_gene_variant CLLE-ES 3 141121305 141121305 single base substitution G T intron_variant CLLE-ES 3 141121305 141121305 single base substitution G T upstream_gene_variant CLLE-ES 3 141129773 141129773 single base substitution T G intron_variant CLLE-ES 3 141132884 141132884 single base substitution T C intron_variant CLLE-ES 3 141143903 141143903 single base substitution A G intron_variant CLLE-ES 3 141143903 141143903 single base substitution A G upstream_gene_variant CLLE-ES 3 141151712 141151712 single base substitution C A intron_variant CLLE-ES 3 141163154 141163154 single base substitution C T downstream_gene_variant CLLE-ES 3 141163154 141163154 single base substitution C T missense_variant P642S 1924C>T CLLE-ES 3 141163154 141163154 single base substitution C T missense_variant P643S 1927C>T CLLE-ES 3 141163154 141163154 single base substitution C T upstream_gene_variant COAD-US 3 141161266 141161266 single base substitution C T synonymous_variant D12D 36C>T COAD-US 3 141161266 141161266 single base substitution C T synonymous_variant D13D 39C>T COAD-US 3 141161266 141161266 single base substitution C T upstream_gene_variant COAD-US 3 141162449 141162449 single base substitution C T downstream_gene_variant COAD-US 3 141162449 141162449 single base substitution C T missense_variant R407C 1219C>T COAD-US 3 141162449 141162449 single base substitution C T missense_variant R408C 1222C>T COAD-US 3 141162449 141162449 single base substitution C T upstream_gene_variant COAD-US 3 141163836 141163836 single base substitution A G downstream_gene_variant COAD-US 3 141163836 141163836 single base substitution A G missense_variant Q869R 2606A>G COAD-US 3 141163836 141163836 single base substitution A G missense_variant Q870R 2609A>G COAD-US 3 141163836 141163836 single base substitution A G upstream_gene_variant COAD-US 3 141163890 141163890 single base substitution G A downstream_gene_variant COAD-US 3 141163890 141163890 single base substitution G A missense_variant S887N 2660G>A COAD-US 3 141163890 141163890 single base substitution G A missense_variant S888N 2663G>A COAD-US 3 141163890 141163890 single base substitution G A upstream_gene_variant COAD-US 3 141164110 141164110 single base substitution C T downstream_gene_variant COAD-US 3 141164110 141164110 single base substitution C T synonymous_variant C960C 2880C>T COAD-US 3 141164110 141164110 single base substitution C T synonymous_variant C961C 2883C>T COAD-US 3 141164110 141164110 single base substitution C T upstream_gene_variant COAD-US 3 141164114 141164114 single base substitution G A downstream_gene_variant COAD-US 3 141164114 141164114 single base substitution G A missense_variant V962M 2884G>A COAD-US 3 141164114 141164114 single base substitution G A missense_variant V963M 2887G>A COAD-US 3 141164114 141164114 single base substitution G A upstream_gene_variant COAD-US 3 141164253 141164253 single base substitution G A downstream_gene_variant COAD-US 3 141164253 141164253 single base substitution G A missense_variant R1008Q 3023G>A COAD-US 3 141164253 141164253 single base substitution G A missense_variant R1009Q 3026G>A COAD-US 3 141164253 141164253 single base substitution G A upstream_gene_variant COAD-US 3 141164534 141164534 single base substitution A C downstream_gene_variant COAD-US 3 141164534 141164534 single base substitution A C synonymous_variant R1102R 3304A>C COAD-US 3 141164534 141164534 single base substitution A C synonymous_variant R1103R 3307A>C COAD-US 3 141164534 141164534 single base substitution A C upstream_gene_variant COCA-CN 3 141162009 141162009 single base substitution C T downstream_gene_variant COCA-CN 3 141162009 141162009 single base substitution C T missense_variant P260L 779C>T COCA-CN 3 141162009 141162009 single base substitution C T missense_variant P261L 782C>T COCA-CN 3 141162009 141162009 single base substitution C T upstream_gene_variant COCA-CN 3 141162472 141162472 single base substitution C A downstream_gene_variant COCA-CN 3 141162472 141162472 single base substitution C A synonymous_variant T414T 1242C>A COCA-CN 3 141162472 141162472 single base substitution C A synonymous_variant T415T 1245C>A COCA-CN 3 141162472 141162472 single base substitution C A upstream_gene_variant COCA-CN 3 141162750 141162750 single base substitution A C downstream_gene_variant COCA-CN 3 141162750 141162750 single base substitution A C missense_variant E507A 1520A>C COCA-CN 3 141162750 141162750 single base substitution A C missense_variant E508A 1523A>C COCA-CN 3 141162750 141162750 single base substitution A C upstream_gene_variant COCA-CN 3 141162787 141162787 single base substitution T G downstream_gene_variant COCA-CN 3 141162787 141162787 single base substitution T G missense_variant I519M 1557T>G COCA-CN 3 141162787 141162787 single base substitution T G missense_variant I520M 1560T>G COCA-CN 3 141162787 141162787 single base substitution T G upstream_gene_variant COCA-CN 3 141163765 141163765 single base substitution C T downstream_gene_variant COCA-CN 3 141163765 141163765 single base substitution C T synonymous_variant N845N 2535C>T COCA-CN 3 141163765 141163765 single base substitution C T synonymous_variant N846N 2538C>T COCA-CN 3 141163765 141163765 single base substitution C T upstream_gene_variant COCA-CN 3 141164266 141164266 single base substitution C T downstream_gene_variant COCA-CN 3 141164266 141164266 single base substitution C T synonymous_variant C1012C 3036C>T COCA-CN 3 141164266 141164266 single base substitution C T synonymous_variant C1013C 3039C>T COCA-CN 3 141164266 141164266 single base substitution C T upstream_gene_variant EOPC-DE 3 141089193 141089193 single base substitution G T intron_variant EOPC-DE 3 141148182 141148182 single base substitution G A intron_variant EOPC-DE 3 141148182 141148182 single base substitution G A upstream_gene_variant ESAD-UK 3 141039487 141039487 single base substitution A G upstream_gene_variant ESAD-UK 3 141040174 141040174 single base substitution C A upstream_gene_variant ESAD-UK 3 141043305 141043305 single base substitution G A intron_variant ESAD-UK 3 141043923 141043923 single base substitution A C intron_variant ESAD-UK 3 141046954 141046954 single base substitution G A intron_variant ESAD-UK 3 141048097 141048097 single base substitution A T intron_variant ESAD-UK 3 141049111 141049111 single base substitution G A intron_variant ESAD-UK 3 141049217 141049217 single base substitution A C intron_variant ESAD-UK 3 141049252 141049252 single base substitution C T intron_variant ESAD-UK 3 141049267 141049267 single base substitution G A intron_variant ESAD-UK 3 141052740 141052740 single base substitution A G intron_variant ESAD-UK 3 141056293 141056293 single base substitution A T intron_variant ESAD-UK 3 141057637 141057637 single base substitution A C intron_variant ESAD-UK 3 141058576 141058576 single base substitution G T intron_variant ESAD-UK 3 141059833 141059833 insertion of <=200bp - AA intron_variant ESAD-UK 3 141059850 141059851 deletion of <=200bp AA - intron_variant ESAD-UK 3 141060396 141060396 single base substitution G C intron_variant ESAD-UK 3 141060780 141060780 single base substitution T A intron_variant ESAD-UK 3 141065171 141065171 single base substitution A G intron_variant ESAD-UK 3 141065417 141065417 insertion of <=200bp - T intron_variant ESAD-UK 3 141066707 141066707 single base substitution A G intron_variant ESAD-UK 3 141071608 141071608 single base substitution T A intron_variant ESAD-UK 3 141073033 141073033 single base substitution A G intron_variant ESAD-UK 3 141073215 141073215 single base substitution C T intron_variant ESAD-UK 3 141073720 141073720 single base substitution G A intron_variant ESAD-UK 3 141073766 141073766 single base substitution C T intron_variant ESAD-UK 3 141078020 141078020 single base substitution C G intron_variant ESAD-UK 3 141082379 141082379 single base substitution C T intron_variant ESAD-UK 3 141082379 141082379 single base substitution C T upstream_gene_variant ESAD-UK 3 141083699 141083699 single base substitution A G intron_variant ESAD-UK 3 141083699 141083699 single base substitution A G upstream_gene_variant ESAD-UK 3 141084182 141084182 single base substitution A T intron_variant ESAD-UK 3 141084182 141084182 single base substitution A T upstream_gene_variant ESAD-UK 3 141085264 141085264 single base substitution G C intron_variant ESAD-UK 3 141085264 141085264 single base substitution G C upstream_gene_variant ESAD-UK 3 141086913 141086913 single base substitution C T intron_variant ESAD-UK 3 141086913 141086913 single base substitution C T upstream_gene_variant ESAD-UK 3 141087324 141087324 single base substitution C T exon_variant ESAD-UK 3 141087324 141087324 single base substitution C T intron_variant ESAD-UK 3 141087324 141087324 single base substitution C T upstream_gene_variant ESAD-UK 3 141089082 141089082 single base substitution T C intron_variant ESAD-UK 3 141098343 141098343 single base substitution C G intron_variant ESAD-UK 3 141101580 141101580 single base substitution T G intron_variant ESAD-UK 3 141101580 141101580 single base substitution T G upstream_gene_variant ESAD-UK 3 141110406 141110406 single base substitution A G downstream_gene_variant ESAD-UK 3 141110406 141110406 single base substitution A G intron_variant ESAD-UK 3 141110492 141110492 single base substitution C G downstream_gene_variant ESAD-UK 3 141110492 141110492 single base substitution C G intron_variant ESAD-UK 3 141110765 141110765 deletion of <=200bp T - downstream_gene_variant ESAD-UK 3 141110765 141110765 deletion of <=200bp T - intron_variant ESAD-UK 3 141111005 141111005 single base substitution T C downstream_gene_variant ESAD-UK 3 141111005 141111005 single base substitution T C intron_variant ESAD-UK 3 141114655 141114655 single base substitution T G downstream_gene_variant ESAD-UK 3 141114655 141114655 single base substitution T G intron_variant ESAD-UK 3 141115108 141115108 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 3 141115108 141115108 single base substitution G A downstream_gene_variant ESAD-UK 3 141115108 141115108 single base substitution G A intron_variant ESAD-UK 3 141115666 141115666 single base substitution C T downstream_gene_variant ESAD-UK 3 141115666 141115666 single base substitution C T intron_variant ESAD-UK 3 141118296 141118298 deletion of <=200bp ACA - downstream_gene_variant ESAD-UK 3 141118296 141118298 deletion of <=200bp ACA - intron_variant ESAD-UK 3 141118296 141118298 deletion of <=200bp ACA - upstream_gene_variant ESAD-UK 3 141120470 141120470 single base substitution G T intron_variant ESAD-UK 3 141120470 141120470 single base substitution G T upstream_gene_variant ESAD-UK 3 141122985 141122985 single base substitution C T downstream_gene_variant ESAD-UK 3 141122985 141122985 single base substitution C T intron_variant ESAD-UK 3 141128848 141128849 deletion of <=200bp TT - downstream_gene_variant ESAD-UK 3 141128848 141128849 deletion of <=200bp TT - intron_variant ESAD-UK 3 141132142 141132142 single base substitution C A intron_variant ESAD-UK 3 141137364 141137364 single base substitution C A intron_variant ESAD-UK 3 141138344 141138344 single base substitution C T intron_variant ESAD-UK 3 141141381 141141381 single base substitution G C intron_variant ESAD-UK 3 141141381 141141381 single base substitution G C upstream_gene_variant ESAD-UK 3 141141561 141141561 single base substitution G A intron_variant ESAD-UK 3 141141561 141141561 single base substitution G A upstream_gene_variant ESAD-UK 3 141142391 141142391 single base substitution C G intron_variant ESAD-UK 3 141142391 141142391 single base substitution C G upstream_gene_variant ESAD-UK 3 141145056 141145056 single base substitution C T intron_variant ESAD-UK 3 141145680 141145680 single base substitution G T intron_variant ESAD-UK 3 141145680 141145680 single base substitution G T upstream_gene_variant ESAD-UK 3 141145681 141145681 single base substitution C T intron_variant ESAD-UK 3 141145681 141145681 single base substitution C T upstream_gene_variant ESAD-UK 3 141147064 141147064 single base substitution C T intron_variant ESAD-UK 3 141147064 141147064 single base substitution C T upstream_gene_variant ESAD-UK 3 141148585 141148585 single base substitution C T intron_variant ESAD-UK 3 141148585 141148585 single base substitution C T upstream_gene_variant ESAD-UK 3 141148918 141148918 insertion of <=200bp - T intron_variant ESAD-UK 3 141148918 141148918 insertion of <=200bp - T upstream_gene_variant ESAD-UK 3 141149658 141149658 single base substitution C A intron_variant ESAD-UK 3 141149658 141149658 single base substitution C A upstream_gene_variant ESAD-UK 3 141151277 141151277 single base substitution A T intron_variant ESAD-UK 3 141151525 141151525 single base substitution G T intron_variant ESAD-UK 3 141151673 141151673 single base substitution C A intron_variant ESAD-UK 3 141152780 141152780 single base substitution G A intron_variant ESAD-UK 3 141155352 141155352 single base substitution T G intron_variant ESAD-UK 3 141157543 141157543 single base substitution T A intron_variant ESAD-UK 3 141157544 141157544 insertion of <=200bp - A intron_variant ESAD-UK 3 141159124 141159124 single base substitution T A intron_variant ESAD-UK 3 141161083 141161083 single base substitution C T intron_variant ESAD-UK 3 141161083 141161083 single base substitution C T upstream_gene_variant ESAD-UK 3 141162213 141162213 single base substitution A G downstream_gene_variant ESAD-UK 3 141162213 141162213 single base substitution A G missense_variant D328G 983A>G ESAD-UK 3 141162213 141162213 single base substitution A G missense_variant D329G 986A>G ESAD-UK 3 141162213 141162213 single base substitution A G upstream_gene_variant ESAD-UK 3 141167283 141167283 insertion of <=200bp - T 3_prime_UTR_variant ESAD-UK 3 141167283 141167283 insertion of <=200bp - T downstream_gene_variant ESAD-UK 3 141168316 141168316 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 141168316 141168316 single base substitution C T downstream_gene_variant ESAD-UK 3 141168571 141168571 single base substitution A C 3_prime_UTR_variant ESAD-UK 3 141168571 141168571 single base substitution A C downstream_gene_variant ESAD-UK 3 141171362 141171362 single base substitution T A downstream_gene_variant ESAD-UK 3 141172764 141172764 single base substitution T G downstream_gene_variant ESCA-CN 3 141163233 141163233 single base substitution T A downstream_gene_variant ESCA-CN 3 141163233 141163233 single base substitution T A missense_variant F668Y 2003T>A ESCA-CN 3 141163233 141163233 single base substitution T A missense_variant F669Y 2006T>A ESCA-CN 3 141163233 141163233 single base substitution T A upstream_gene_variant ESCA-CN 3 141164508 141164508 single base substitution G A downstream_gene_variant ESCA-CN 3 141164508 141164508 single base substitution G A missense_variant R1093H 3278G>A ESCA-CN 3 141164508 141164508 single base substitution G A missense_variant R1094H 3281G>A ESCA-CN 3 141164508 141164508 single base substitution G A upstream_gene_variant GBM-US 3 141162963 141162963 single base substitution A G downstream_gene_variant GBM-US 3 141162963 141162963 single base substitution A G missense_variant Y578C 1733A>G GBM-US 3 141162963 141162963 single base substitution A G missense_variant Y579C 1736A>G GBM-US 3 141162963 141162963 single base substitution A G upstream_gene_variant GBM-US 3 141163945 141163945 single base substitution C T downstream_gene_variant GBM-US 3 141163945 141163945 single base substitution C T synonymous_variant D905D 2715C>T GBM-US 3 141163945 141163945 single base substitution C T synonymous_variant D906D 2718C>T GBM-US 3 141163945 141163945 single base substitution C T upstream_gene_variant KIRC-US 3 141161504 141161504 single base substitution T G downstream_gene_variant KIRC-US 3 141161504 141161504 single base substitution T G missense_variant Y92D 274T>G KIRC-US 3 141161504 141161504 single base substitution T G missense_variant Y93D 277T>G KIRC-US 3 141161504 141161504 single base substitution T G upstream_gene_variant KIRC-US 3 141161609 141161609 single base substitution T C downstream_gene_variant KIRC-US 3 141161609 141161609 single base substitution T C missense_variant F127L 379T>C KIRC-US 3 141161609 141161609 single base substitution T C missense_variant F128L 382T>C KIRC-US 3 141161609 141161609 single base substitution T C upstream_gene_variant KIRC-US 3 141161785 141161785 single base substitution G T downstream_gene_variant KIRC-US 3 141161785 141161785 single base substitution G T missense_variant L185F 555G>T KIRC-US 3 141161785 141161785 single base substitution G T missense_variant L186F 558G>T KIRC-US 3 141161785 141161785 single base substitution G T upstream_gene_variant KIRC-US 3 141162128 141162128 single base substitution C G downstream_gene_variant KIRC-US 3 141162128 141162128 single base substitution C G missense_variant P300A 898C>G KIRC-US 3 141162128 141162128 single base substitution C G missense_variant P301A 901C>G KIRC-US 3 141162128 141162128 single base substitution C G upstream_gene_variant KIRC-US 3 141163046 141163046 single base substitution C T downstream_gene_variant KIRC-US 3 141163046 141163046 single base substitution C T stop_gained Q606* 1816C>T KIRC-US 3 141163046 141163046 single base substitution C T stop_gained Q607* 1819C>T KIRC-US 3 141163046 141163046 single base substitution C T upstream_gene_variant KIRC-US 3 141163202 141163202 single base substitution G T downstream_gene_variant KIRC-US 3 141163202 141163202 single base substitution G T stop_gained E658* 1972G>T KIRC-US 3 141163202 141163202 single base substitution G T stop_gained E659* 1975G>T KIRC-US 3 141163202 141163202 single base substitution G T upstream_gene_variant KIRC-US 3 141163555 141163555 single base substitution G A downstream_gene_variant KIRC-US 3 141163555 141163555 single base substitution G A synonymous_variant K775K 2325G>A KIRC-US 3 141163555 141163555 single base substitution G A synonymous_variant K776K 2328G>A KIRC-US 3 141163555 141163555 single base substitution G A upstream_gene_variant KIRC-US 3 141163615 141163615 single base substitution T C downstream_gene_variant KIRC-US 3 141163615 141163615 single base substitution T C synonymous_variant V795V 2385T>C KIRC-US 3 141163615 141163615 single base substitution T C synonymous_variant V796V 2388T>C KIRC-US 3 141163615 141163615 single base substitution T C upstream_gene_variant KIRC-US 3 141164552 141164552 single base substitution A G downstream_gene_variant KIRC-US 3 141164552 141164552 single base substitution A G missense_variant T1108A 3322A>G KIRC-US 3 141164552 141164552 single base substitution A G missense_variant T1109A 3325A>G KIRC-US 3 141164552 141164552 single base substitution A G upstream_gene_variant KIRP-US 3 141162052 141162058 deletion of <=200bp TTCGGAT - downstream_gene_variant KIRP-US 3 141162052 141162058 deletion of <=200bp TTCGGAT - frameshift_variant DSD274 KIRP-US 3 141162052 141162058 deletion of <=200bp TTCGGAT - frameshift_variant DSD275 KIRP-US 3 141162052 141162058 deletion of <=200bp TTCGGAT - upstream_gene_variant KIRP-US 3 141162716 141162716 single base substitution G A downstream_gene_variant KIRP-US 3 141162716 141162716 single base substitution G A missense_variant V496I 1486G>A KIRP-US 3 141162716 141162716 single base substitution G A missense_variant V497I 1489G>A KIRP-US 3 141162716 141162716 single base substitution G A upstream_gene_variant LAML-KR 3 141053239 141053239 single base substitution C T intron_variant LAML-KR 3 141083294 141083294 single base substitution G C intron_variant LAML-KR 3 141083294 141083294 single base substitution G C upstream_gene_variant LAML-KR 3 141145053 141145053 single base substitution G A intron_variant LAML-KR 3 141148190 141148190 single base substitution T A intron_variant LAML-KR 3 141148190 141148190 single base substitution T A upstream_gene_variant LAML-KR 3 141157092 141157092 single base substitution T C 5_prime_UTR_variant LAML-KR 3 141157092 141157092 single base substitution T C intron_variant LAML-KR 3 141162185 141162185 single base substitution T G downstream_gene_variant LAML-KR 3 141162185 141162185 single base substitution T G missense_variant S319A 955T>G LAML-KR 3 141162185 141162185 single base substitution T G missense_variant S320A 958T>G LAML-KR 3 141162185 141162185 single base substitution T G upstream_gene_variant LAML-KR 3 141163655 141163655 single base substitution G A downstream_gene_variant LAML-KR 3 141163655 141163655 single base substitution G A missense_variant A809T 2425G>A LAML-KR 3 141163655 141163655 single base substitution G A missense_variant A810T 2428G>A LAML-KR 3 141163655 141163655 single base substitution G A upstream_gene_variant LAML-KR 3 141163705 141163705 single base substitution G A downstream_gene_variant LAML-KR 3 141163705 141163705 single base substitution G A synonymous_variant P825P 2475G>A LAML-KR 3 141163705 141163705 single base substitution G A synonymous_variant P826P 2478G>A LAML-KR 3 141163705 141163705 single base substitution G A upstream_gene_variant LGG-US 3 141163946 141163946 single base substitution G A downstream_gene_variant LGG-US 3 141163946 141163946 single base substitution G A missense_variant A906T 2716G>A LGG-US 3 141163946 141163946 single base substitution G A missense_variant A907T 2719G>A LGG-US 3 141163946 141163946 single base substitution G A upstream_gene_variant LGG-US 3 141164403 141164403 single base substitution G A downstream_gene_variant LGG-US 3 141164403 141164403 single base substitution G A missense_variant R1058H 3173G>A LGG-US 3 141164403 141164403 single base substitution G A missense_variant R1059H 3176G>A LGG-US 3 141164403 141164403 single base substitution G A upstream_gene_variant LICA-CN 3 141162029 141162029 single base substitution A G downstream_gene_variant LICA-CN 3 141162029 141162029 single base substitution A G missense_variant K267E 799A>G LICA-CN 3 141162029 141162029 single base substitution A G missense_variant K268E 802A>G LICA-CN 3 141162029 141162029 single base substitution A G upstream_gene_variant LICA-CN 3 141162226 141162226 single base substitution G A downstream_gene_variant LICA-CN 3 141162226 141162226 single base substitution G A synonymous_variant P332P 996G>A LICA-CN 3 141162226 141162226 single base substitution G A synonymous_variant P333P 999G>A LICA-CN 3 141162226 141162226 single base substitution G A upstream_gene_variant LICA-CN 3 141164198 141164198 single base substitution G A downstream_gene_variant LICA-CN 3 141164198 141164198 single base substitution G A missense_variant D990N 2968G>A LICA-CN 3 141164198 141164198 single base substitution G A missense_variant D991N 2971G>A LICA-CN 3 141164198 141164198 single base substitution G A upstream_gene_variant LICA-FR 3 141078320 141078320 single base substitution G T intron_variant LICA-FR 3 141092256 141092256 single base substitution A G intron_variant LICA-FR 3 141132118 141132118 insertion of <=200bp - TT intron_variant LICA-FR 3 141140121 141140121 deletion of <=200bp T - intron_variant LICA-FR 3 141140121 141140121 deletion of <=200bp T - upstream_gene_variant LICA-FR 3 141143756 141143756 single base substitution A G intron_variant LICA-FR 3 141143756 141143756 single base substitution A G upstream_gene_variant LICA-FR 3 141162568 141162568 single base substitution C T downstream_gene_variant LICA-FR 3 141162568 141162568 single base substitution C T synonymous_variant D446D 1338C>T LICA-FR 3 141162568 141162568 single base substitution C T synonymous_variant D447D 1341C>T LICA-FR 3 141162568 141162568 single base substitution C T upstream_gene_variant LICA-FR 3 141163143 141163143 single base substitution G T downstream_gene_variant LICA-FR 3 141163143 141163143 single base substitution G T missense_variant C638F 1913G>T LICA-FR 3 141163143 141163143 single base substitution G T missense_variant C639F 1916G>T LICA-FR 3 141163143 141163143 single base substitution G T upstream_gene_variant LICA-FR 3 141164014 141164014 single base substitution C T downstream_gene_variant LICA-FR 3 141164014 141164014 single base substitution C T synonymous_variant S928S 2784C>T LICA-FR 3 141164014 141164014 single base substitution C T synonymous_variant S929S 2787C>T LICA-FR 3 141164014 141164014 single base substitution C T upstream_gene_variant LIHC-US 3 141162187 141162187 single base substitution C T downstream_gene_variant LIHC-US 3 141162187 141162187 single base substitution C T synonymous_variant S319S 957C>T LIHC-US 3 141162187 141162187 single base substitution C T synonymous_variant S320S 960C>T LIHC-US 3 141162187 141162187 single base substitution C T upstream_gene_variant LINC-JP 3 141045537 141045537 single base substitution A G intron_variant LINC-JP 3 141047929 141047929 single base substitution C A intron_variant LINC-JP 3 141051781 141051781 single base substitution T C intron_variant LINC-JP 3 141099344 141099344 single base substitution G A intron_variant LINC-JP 3 141099344 141099344 single base substitution G A upstream_gene_variant LINC-JP 3 141112914 141112914 single base substitution G A downstream_gene_variant LINC-JP 3 141112914 141112914 single base substitution G A intron_variant LINC-JP 3 141139890 141139890 single base substitution A G intron_variant LINC-JP 3 141145145 141145145 single base substitution A G intron_variant LINC-JP 3 141145786 141145786 single base substitution T C intron_variant LINC-JP 3 141145786 141145786 single base substitution T C upstream_gene_variant LINC-JP 3 141155106 141155106 single base substitution T A intron_variant LINC-JP 3 141160875 141160875 single base substitution A C intron_variant LINC-JP 3 141160875 141160875 single base substitution A C upstream_gene_variant LINC-JP 3 141161095 141161095 single base substitution G A intron_variant LINC-JP 3 141161095 141161095 single base substitution G A upstream_gene_variant LINC-JP 3 141161409 141161409 insertion of <=200bp - C downstream_gene_variant LINC-JP 3 141161409 141161409 insertion of <=200bp - C frameshift_variant N60T? LINC-JP 3 141161409 141161409 insertion of <=200bp - C frameshift_variant N61T? LINC-JP 3 141161409 141161409 insertion of <=200bp - C upstream_gene_variant LINC-JP 3 141161849 141161849 single base substitution G A downstream_gene_variant LINC-JP 3 141161849 141161849 single base substitution G A missense_variant D207N 619G>A LINC-JP 3 141161849 141161849 single base substitution G A missense_variant D208N 622G>A LINC-JP 3 141161849 141161849 single base substitution G A upstream_gene_variant LINC-JP 3 141162404 141162404 single base substitution A G downstream_gene_variant LINC-JP 3 141162404 141162404 single base substitution A G missense_variant I392V 1174A>G LINC-JP 3 141162404 141162404 single base substitution A G missense_variant I393V 1177A>G LINC-JP 3 141162404 141162404 single base substitution A G upstream_gene_variant LINC-JP 3 141162875 141162875 insertion of <=200bp - A downstream_gene_variant LINC-JP 3 141162875 141162875 insertion of <=200bp - A frameshift_variant K549K? LINC-JP 3 141162875 141162875 insertion of <=200bp - A frameshift_variant K550K? LINC-JP 3 141162875 141162875 insertion of <=200bp - A upstream_gene_variant LIRI-JP 3 141039435 141039435 single base substitution A G upstream_gene_variant LIRI-JP 3 141039662 141039662 single base substitution C T upstream_gene_variant LIRI-JP 3 141041325 141041325 single base substitution A T upstream_gene_variant LIRI-JP 3 141042100 141042100 single base substitution C A upstream_gene_variant LIRI-JP 3 141042168 141042168 single base substitution A G upstream_gene_variant LIRI-JP 3 141042295 141042295 single base substitution A G upstream_gene_variant LIRI-JP 3 141042482 141042482 single base substitution G A upstream_gene_variant LIRI-JP 3 141044648 141044648 single base substitution G A intron_variant LIRI-JP 3 141044649 141044649 single base substitution A T intron_variant LIRI-JP 3 141047468 141047468 single base substitution G A intron_variant LIRI-JP 3 141048776 141048776 single base substitution G A intron_variant LIRI-JP 3 141051762 141051762 single base substitution A C intron_variant LIRI-JP 3 141051778 141051778 single base substitution A G intron_variant LIRI-JP 3 141052047 141052047 single base substitution A G intron_variant LIRI-JP 3 141052106 141052106 single base substitution G A intron_variant LIRI-JP 3 141053664 141053664 single base substitution A G intron_variant LIRI-JP 3 141054025 141054025 single base substitution C A intron_variant LIRI-JP 3 141055134 141055134 single base substitution A G intron_variant LIRI-JP 3 141059631 141059631 single base substitution T A intron_variant LIRI-JP 3 141059939 141059939 single base substitution A C intron_variant LIRI-JP 3 141060754 141060754 single base substitution G T intron_variant LIRI-JP 3 141062476 141062476 single base substitution C T intron_variant LIRI-JP 3 141065724 141065724 single base substitution C A intron_variant LIRI-JP 3 141065884 141065884 single base substitution T C intron_variant LIRI-JP 3 141066772 141066772 single base substitution A T intron_variant LIRI-JP 3 141069528 141069528 single base substitution C G intron_variant LIRI-JP 3 141071220 141071220 single base substitution G A intron_variant LIRI-JP 3 141075091 141075091 single base substitution G A intron_variant LIRI-JP 3 141075454 141075454 deletion of <=200bp G - intron_variant LIRI-JP 3 141075939 141075939 single base substitution A G intron_variant LIRI-JP 3 141078124 141078124 single base substitution G A intron_variant LIRI-JP 3 141078964 141078964 single base substitution C T intron_variant LIRI-JP 3 141079368 141079368 single base substitution A T intron_variant LIRI-JP 3 141081533 141081533 single base substitution A T intron_variant LIRI-JP 3 141087720 141087720 single base substitution G A intron_variant LIRI-JP 3 141088606 141088606 single base substitution A G intron_variant LIRI-JP 3 141091997 141091997 single base substitution A G intron_variant LIRI-JP 3 141092510 141092510 single base substitution G A intron_variant LIRI-JP 3 141092762 141092762 single base substitution A T intron_variant LIRI-JP 3 141093105 141093105 single base substitution T G intron_variant LIRI-JP 3 141093479 141093479 deletion of <=200bp A - intron_variant LIRI-JP 3 141095680 141095680 single base substitution T A intron_variant LIRI-JP 3 141099105 141099105 single base substitution G C intron_variant LIRI-JP 3 141099105 141099105 single base substitution G C upstream_gene_variant LIRI-JP 3 141099952 141099952 single base substitution C T intron_variant LIRI-JP 3 141099952 141099952 single base substitution C T upstream_gene_variant LIRI-JP 3 141101345 141101345 single base substitution C T intron_variant LIRI-JP 3 141101345 141101345 single base substitution C T upstream_gene_variant LIRI-JP 3 141102919 141102919 single base substitution A G intron_variant LIRI-JP 3 141102919 141102919 single base substitution A G upstream_gene_variant LIRI-JP 3 141104691 141104691 single base substitution G A intron_variant LIRI-JP 3 141104691 141104691 single base substitution G A upstream_gene_variant LIRI-JP 3 141104869 141104869 single base substitution C A intron_variant LIRI-JP 3 141104869 141104869 single base substitution C A upstream_gene_variant LIRI-JP 3 141108403 141108403 single base substitution G T downstream_gene_variant LIRI-JP 3 141108403 141108403 single base substitution G T exon_variant LIRI-JP 3 141108403 141108403 single base substitution G T intron_variant LIRI-JP 3 141108747 141108747 single base substitution G A downstream_gene_variant LIRI-JP 3 141108747 141108747 single base substitution G A intron_variant LIRI-JP 3 141110298 141110298 single base substitution A T downstream_gene_variant LIRI-JP 3 141110298 141110298 single base substitution A T intron_variant LIRI-JP 3 141115172 141115172 single base substitution A G 5_prime_UTR_variant LIRI-JP 3 141115172 141115172 single base substitution A G downstream_gene_variant LIRI-JP 3 141115172 141115172 single base substitution A G intron_variant LIRI-JP 3 141115768 141115768 single base substitution A G downstream_gene_variant LIRI-JP 3 141115768 141115768 single base substitution A G intron_variant LIRI-JP 3 141115987 141115987 single base substitution A G downstream_gene_variant LIRI-JP 3 141115987 141115987 single base substitution A G intron_variant LIRI-JP 3 141116115 141116115 single base substitution C T downstream_gene_variant LIRI-JP 3 141116115 141116115 single base substitution C T intron_variant LIRI-JP 3 141122434 141122434 single base substitution T G intron_variant LIRI-JP 3 141123567 141123567 single base substitution C A downstream_gene_variant LIRI-JP 3 141123567 141123567 single base substitution C A intron_variant LIRI-JP 3 141125863 141125863 single base substitution T C downstream_gene_variant LIRI-JP 3 141125863 141125863 single base substitution T C intron_variant LIRI-JP 3 141126964 141126964 single base substitution A G downstream_gene_variant LIRI-JP 3 141126964 141126964 single base substitution A G intron_variant LIRI-JP 3 141128484 141128484 single base substitution C A downstream_gene_variant LIRI-JP 3 141128484 141128484 single base substitution C A intron_variant LIRI-JP 3 141131789 141131789 single base substitution G A intron_variant LIRI-JP 3 141132704 141132704 single base substitution C T intron_variant LIRI-JP 3 141134054 141134054 single base substitution T C intron_variant LIRI-JP 3 141136443 141136443 single base substitution C T intron_variant LIRI-JP 3 141144782 141144782 single base substitution A C intron_variant LIRI-JP 3 141144782 141144782 single base substitution A C upstream_gene_variant LIRI-JP 3 141144836 141144836 single base substitution A G intron_variant LIRI-JP 3 141144836 141144836 single base substitution A G upstream_gene_variant LIRI-JP 3 141145262 141145262 single base substitution A G intron_variant LIRI-JP 3 141145272 141145272 single base substitution A C intron_variant LIRI-JP 3 141147464 141147464 single base substitution G A intron_variant LIRI-JP 3 141147464 141147464 single base substitution G A upstream_gene_variant LIRI-JP 3 141147680 141147680 single base substitution A G intron_variant LIRI-JP 3 141147680 141147680 single base substitution A G upstream_gene_variant LIRI-JP 3 141151470 141151470 single base substitution A G intron_variant LIRI-JP 3 141155104 141155104 insertion of <=200bp - TA intron_variant LIRI-JP 3 141156093 141156093 single base substitution G A intron_variant LIRI-JP 3 141156096 141156096 single base substitution T G intron_variant LIRI-JP 3 141157838 141157838 single base substitution C T intron_variant LIRI-JP 3 141160122 141160122 single base substitution A G intron_variant LIRI-JP 3 141161291 141161291 single base substitution T G missense_variant S21A 61T>G LIRI-JP 3 141161291 141161291 single base substitution T G missense_variant S22A 64T>G LIRI-JP 3 141161291 141161291 single base substitution T G upstream_gene_variant LIRI-JP 3 141161541 141161541 single base substitution T G downstream_gene_variant LIRI-JP 3 141161541 141161541 single base substitution T G missense_variant V104G 311T>G LIRI-JP 3 141161541 141161541 single base substitution T G missense_variant V105G 314T>G LIRI-JP 3 141161541 141161541 single base substitution T G upstream_gene_variant LIRI-JP 3 141161870 141161870 insertion of <=200bp - C downstream_gene_variant LIRI-JP 3 141161870 141161870 insertion of <=200bp - C frameshift_variant P214P? LIRI-JP 3 141161870 141161870 insertion of <=200bp - C frameshift_variant P215P? LIRI-JP 3 141161870 141161870 insertion of <=200bp - C upstream_gene_variant LIRI-JP 3 141162469 141162469 single base substitution T C downstream_gene_variant LIRI-JP 3 141162469 141162469 single base substitution T C synonymous_variant P413P 1239T>C LIRI-JP 3 141162469 141162469 single base substitution T C synonymous_variant P414P 1242T>C LIRI-JP 3 141162469 141162469 single base substitution T C upstream_gene_variant LIRI-JP 3 141162484 141162484 single base substitution T C downstream_gene_variant LIRI-JP 3 141162484 141162484 single base substitution T C synonymous_variant N418N 1254T>C LIRI-JP 3 141162484 141162484 single base substitution T C synonymous_variant N419N 1257T>C LIRI-JP 3 141162484 141162484 single base substitution T C upstream_gene_variant LIRI-JP 3 141162837 141162837 single base substitution A G downstream_gene_variant LIRI-JP 3 141162837 141162837 single base substitution A G missense_variant K536R 1607A>G LIRI-JP 3 141162837 141162837 single base substitution A G missense_variant K537R 1610A>G LIRI-JP 3 141162837 141162837 single base substitution A G upstream_gene_variant LIRI-JP 3 141162984 141162984 deletion of <=200bp C - downstream_gene_variant LIRI-JP 3 141162984 141162984 deletion of <=200bp C - frameshift_variant S585 LIRI-JP 3 141162984 141162984 deletion of <=200bp C - frameshift_variant S586 LIRI-JP 3 141162984 141162984 deletion of <=200bp C - upstream_gene_variant LIRI-JP 3 141168221 141168221 single base substitution A C 3_prime_UTR_variant LIRI-JP 3 141168221 141168221 single base substitution A C downstream_gene_variant LIRI-JP 3 141169474 141169474 single base substitution A C downstream_gene_variant LIRI-JP 3 141169494 141169494 single base substitution A C downstream_gene_variant LIRI-JP 3 141171443 141171443 single base substitution A G downstream_gene_variant LIRI-JP 3 141173164 141173164 single base substitution T C downstream_gene_variant LUSC-KR 3 141041209 141041209 single base substitution A G upstream_gene_variant LUSC-KR 3 141041764 141041764 single base substitution C G upstream_gene_variant LUSC-KR 3 141050267 141050267 single base substitution G C intron_variant LUSC-KR 3 141052330 141052330 single base substitution C G intron_variant LUSC-KR 3 141053287 141053287 single base substitution T C intron_variant LUSC-KR 3 141054734 141054734 single base substitution C G intron_variant LUSC-KR 3 141059658 141059658 single base substitution G A intron_variant LUSC-KR 3 141059695 141059695 single base substitution C T intron_variant LUSC-KR 3 141061062 141061062 single base substitution G A intron_variant LUSC-KR 3 141074293 141074293 single base substitution C A intron_variant LUSC-KR 3 141077542 141077542 single base substitution G T intron_variant LUSC-KR 3 141080323 141080323 single base substitution G A intron_variant LUSC-KR 3 141086976 141086976 single base substitution G T intron_variant LUSC-KR 3 141086976 141086976 single base substitution G T upstream_gene_variant LUSC-KR 3 141092764 141092764 single base substitution G A intron_variant LUSC-KR 3 141096420 141096420 single base substitution G A intron_variant LUSC-KR 3 141096870 141096870 single base substitution A G intron_variant LUSC-KR 3 141098231 141098231 single base substitution G A intron_variant LUSC-KR 3 141104256 141104256 single base substitution C T intron_variant LUSC-KR 3 141104256 141104256 single base substitution C T upstream_gene_variant LUSC-KR 3 141105570 141105570 single base substitution A G 5_prime_UTR_variant LUSC-KR 3 141105570 141105570 single base substitution A G exon_variant LUSC-KR 3 141105570 141105570 single base substitution A G intron_variant LUSC-KR 3 141105570 141105570 single base substitution A G upstream_gene_variant LUSC-KR 3 141111767 141111767 single base substitution G T downstream_gene_variant LUSC-KR 3 141111767 141111767 single base substitution G T intron_variant LUSC-KR 3 141115220 141115220 single base substitution C T 5_prime_UTR_variant LUSC-KR 3 141115220 141115220 single base substitution C T downstream_gene_variant LUSC-KR 3 141115220 141115220 single base substitution C T intron_variant LUSC-KR 3 141117224 141117224 single base substitution G C downstream_gene_variant LUSC-KR 3 141117224 141117224 single base substitution G C intron_variant LUSC-KR 3 141117224 141117224 single base substitution G C upstream_gene_variant LUSC-KR 3 141118279 141118279 single base substitution A G downstream_gene_variant LUSC-KR 3 141118279 141118279 single base substitution A G intron_variant LUSC-KR 3 141118279 141118279 single base substitution A G upstream_gene_variant LUSC-KR 3 141119913 141119913 single base substitution A T intron_variant LUSC-KR 3 141119913 141119913 single base substitution A T upstream_gene_variant LUSC-KR 3 141125111 141125111 single base substitution G A downstream_gene_variant LUSC-KR 3 141125111 141125111 single base substitution G A intron_variant LUSC-KR 3 141129564 141129564 single base substitution G A downstream_gene_variant LUSC-KR 3 141129564 141129564 single base substitution G A intron_variant LUSC-KR 3 141136429 141136429 single base substitution T G intron_variant LUSC-KR 3 141138242 141138242 single base substitution A T intron_variant LUSC-KR 3 141138941 141138941 single base substitution G A intron_variant LUSC-KR 3 141141106 141141106 single base substitution C T intron_variant LUSC-KR 3 141141106 141141106 single base substitution C T upstream_gene_variant LUSC-KR 3 141143187 141143187 single base substitution C G intron_variant LUSC-KR 3 141143187 141143187 single base substitution C G upstream_gene_variant LUSC-KR 3 141147153 141147153 single base substitution T C intron_variant LUSC-KR 3 141147153 141147153 single base substitution T C upstream_gene_variant LUSC-KR 3 141149919 141149919 single base substitution C G intron_variant LUSC-KR 3 141149919 141149919 single base substitution C G upstream_gene_variant LUSC-KR 3 141151752 141151752 single base substitution G A intron_variant LUSC-KR 3 141162150 141162150 single base substitution C G downstream_gene_variant LUSC-KR 3 141162150 141162150 single base substitution C G stop_gained S307* 920C>G LUSC-KR 3 141162150 141162150 single base substitution C G stop_gained S308* 923C>G LUSC-KR 3 141162150 141162150 single base substitution C G upstream_gene_variant LUSC-KR 3 141169233 141169233 single base substitution C G downstream_gene_variant LUSC-US 3 141161660 141161660 single base substitution G A downstream_gene_variant LUSC-US 3 141161660 141161660 single base substitution G A missense_variant V144I 430G>A LUSC-US 3 141161660 141161660 single base substitution G A missense_variant V145I 433G>A LUSC-US 3 141161660 141161660 single base substitution G A upstream_gene_variant LUSC-US 3 141161800 141161800 single base substitution A G downstream_gene_variant LUSC-US 3 141161800 141161800 single base substitution A G synonymous_variant K190K 570A>G LUSC-US 3 141161800 141161800 single base substitution A G synonymous_variant K191K 573A>G LUSC-US 3 141161800 141161800 single base substitution A G upstream_gene_variant LUSC-US 3 141163129 141163129 single base substitution G T downstream_gene_variant LUSC-US 3 141163129 141163129 single base substitution G T missense_variant L633F 1899G>T LUSC-US 3 141163129 141163129 single base substitution G T missense_variant L634F 1902G>T LUSC-US 3 141163129 141163129 single base substitution G T upstream_gene_variant LUSC-US 3 141163318 141163318 single base substitution G C downstream_gene_variant LUSC-US 3 141163318 141163318 single base substitution G C missense_variant L696F 2088G>C LUSC-US 3 141163318 141163318 single base substitution G C missense_variant L697F 2091G>C LUSC-US 3 141163318 141163318 single base substitution G C upstream_gene_variant LUSC-US 3 141163969 141163969 single base substitution C A downstream_gene_variant LUSC-US 3 141163969 141163969 single base substitution C A missense_variant D913E 2739C>A LUSC-US 3 141163969 141163969 single base substitution C A missense_variant D914E 2742C>A LUSC-US 3 141163969 141163969 single base substitution C A upstream_gene_variant LUSC-US 3 141164615 141164615 single base substitution C T downstream_gene_variant LUSC-US 3 141164615 141164615 single base substitution C T stop_gained Q1129* 3385C>T LUSC-US 3 141164615 141164615 single base substitution C T stop_gained Q1130* 3388C>T LUSC-US 3 141164615 141164615 single base substitution C T upstream_gene_variant LUSC-US 3 141164623 141164623 single base substitution C A downstream_gene_variant LUSC-US 3 141164623 141164623 single base substitution C A synonymous_variant P1131P 3393C>A LUSC-US 3 141164623 141164623 single base substitution C A synonymous_variant P1132P 3396C>A LUSC-US 3 141164623 141164623 single base substitution C A upstream_gene_variant MALY-DE 3 141052199 141052199 single base substitution C T intron_variant MALY-DE 3 141054292 141054292 single base substitution C T intron_variant MALY-DE 3 141057427 141057427 single base substitution C A intron_variant MALY-DE 3 141060969 141060969 single base substitution C A intron_variant MALY-DE 3 141061345 141061345 single base substitution T A intron_variant MALY-DE 3 141061959 141061959 single base substitution T C intron_variant MALY-DE 3 141062252 141062252 single base substitution G A intron_variant MALY-DE 3 141068361 141068361 single base substitution T A intron_variant MALY-DE 3 141071415 141071415 single base substitution G C intron_variant MALY-DE 3 141093281 141093281 single base substitution G T intron_variant MALY-DE 3 141096104 141096104 single base substitution C T intron_variant MALY-DE 3 141098462 141098462 single base substitution C G intron_variant MALY-DE 3 141099218 141099218 single base substitution G C intron_variant MALY-DE 3 141099218 141099218 single base substitution G C upstream_gene_variant MALY-DE 3 141101393 141101393 single base substitution A C intron_variant MALY-DE 3 141101393 141101393 single base substitution A C upstream_gene_variant MALY-DE 3 141104335 141104335 single base substitution C G intron_variant MALY-DE 3 141104335 141104335 single base substitution C G upstream_gene_variant MALY-DE 3 141105217 141105217 single base substitution C T intron_variant MALY-DE 3 141105217 141105217 single base substitution C T upstream_gene_variant MALY-DE 3 141105285 141105285 single base substitution G T exon_variant MALY-DE 3 141105285 141105285 single base substitution G T intron_variant MALY-DE 3 141105285 141105285 single base substitution G T upstream_gene_variant MALY-DE 3 141105646 141105646 single base substitution G A exon_variant MALY-DE 3 141105646 141105646 single base substitution G A intron_variant MALY-DE 3 141105646 141105646 single base substitution G A upstream_gene_variant MALY-DE 3 141105679 141105679 single base substitution G C exon_variant MALY-DE 3 141105679 141105679 single base substitution G C intron_variant MALY-DE 3 141105679 141105679 single base substitution G C upstream_gene_variant MALY-DE 3 141106380 141106380 single base substitution T G exon_variant MALY-DE 3 141106380 141106380 single base substitution T G intron_variant MALY-DE 3 141106380 141106380 single base substitution T G upstream_gene_variant MALY-DE 3 141106413 141106413 single base substitution T C exon_variant MALY-DE 3 141106413 141106413 single base substitution T C intron_variant MALY-DE 3 141106413 141106413 single base substitution T C upstream_gene_variant MALY-DE 3 141110965 141110965 single base substitution G C downstream_gene_variant MALY-DE 3 141110965 141110965 single base substitution G C intron_variant MALY-DE 3 141114565 141114565 single base substitution C G downstream_gene_variant MALY-DE 3 141114565 141114565 single base substitution C G intron_variant MALY-DE 3 141114759 141114759 single base substitution A C downstream_gene_variant MALY-DE 3 141114759 141114759 single base substitution A C intron_variant MALY-DE 3 141120441 141120441 single base substitution C T intron_variant MALY-DE 3 141120441 141120441 single base substitution C T upstream_gene_variant MALY-DE 3 141123247 141123247 single base substitution A G downstream_gene_variant MALY-DE 3 141123247 141123247 single base substitution A G intron_variant MALY-DE 3 141129019 141129019 single base substitution G C downstream_gene_variant MALY-DE 3 141129019 141129019 single base substitution G C intron_variant MALY-DE 3 141134615 141134615 single base substitution G A intron_variant MALY-DE 3 141142051 141142051 single base substitution T C intron_variant MALY-DE 3 141142051 141142051 single base substitution T C upstream_gene_variant MALY-DE 3 141142053 141142053 single base substitution A T intron_variant MALY-DE 3 141142053 141142053 single base substitution A T upstream_gene_variant MALY-DE 3 141142293 141142293 single base substitution T A intron_variant MALY-DE 3 141142293 141142293 single base substitution T A upstream_gene_variant MALY-DE 3 141142896 141142896 single base substitution T G intron_variant MALY-DE 3 141142896 141142896 single base substitution T G upstream_gene_variant MALY-DE 3 141147638 141147638 single base substitution G A intron_variant MALY-DE 3 141147638 141147638 single base substitution G A upstream_gene_variant MALY-DE 3 141148883 141148886 deletion of <=200bp GTTT - intron_variant MALY-DE 3 141148883 141148886 deletion of <=200bp GTTT - upstream_gene_variant MALY-DE 3 141158461 141158461 single base substitution G C intron_variant MALY-DE 3 141170597 141170597 single base substitution G T downstream_gene_variant MALY-DE 3 141172122 141172122 single base substitution G A downstream_gene_variant MELA-AU 3 141038179 141038179 single base substitution C T upstream_gene_variant MELA-AU 3 141038391 141038391 single base substitution C T upstream_gene_variant MELA-AU 3 141038632 141038632 single base substitution C T upstream_gene_variant MELA-AU 3 141038963 141038963 single base substitution G A upstream_gene_variant MELA-AU 3 141039003 141039003 single base substitution G A upstream_gene_variant MELA-AU 3 141039072 141039072 single base substitution G A upstream_gene_variant MELA-AU 3 141040010 141040010 single base substitution C T upstream_gene_variant MELA-AU 3 141040028 141040028 single base substitution G A upstream_gene_variant MELA-AU 3 141040479 141040479 single base substitution C T upstream_gene_variant MELA-AU 3 141040481 141040481 single base substitution C T upstream_gene_variant MELA-AU 3 141040496 141040496 single base substitution C T upstream_gene_variant MELA-AU 3 141040524 141040524 single base substitution G A upstream_gene_variant MELA-AU 3 141040971 141040971 single base substitution C T upstream_gene_variant MELA-AU 3 141041062 141041062 single base substitution C T upstream_gene_variant MELA-AU 3 141041463 141041463 single base substitution G A upstream_gene_variant MELA-AU 3 141042197 141042197 single base substitution G A upstream_gene_variant MELA-AU 3 141042568 141042568 single base substitution C T upstream_gene_variant MELA-AU 3 141043201 141043201 single base substitution G A 5_prime_UTR_variant MELA-AU 3 141043237 141043237 single base substitution G T 5_prime_UTR_variant MELA-AU 3 141043512 141043512 single base substitution C T intron_variant MELA-AU 3 141043670 141043670 single base substitution C T intron_variant MELA-AU 3 141044216 141044216 single base substitution C T intron_variant MELA-AU 3 141045059 141045059 single base substitution G A intron_variant MELA-AU 3 141045644 141045644 single base substitution C T intron_variant MELA-AU 3 141045645 141045645 single base substitution C T intron_variant MELA-AU 3 141045728 141045728 single base substitution G A intron_variant MELA-AU 3 141045735 141045735 single base substitution G A intron_variant MELA-AU 3 141046225 141046225 single base substitution G A intron_variant MELA-AU 3 141046517 141046517 single base substitution G A intron_variant MELA-AU 3 141046601 141046601 single base substitution G A intron_variant MELA-AU 3 141046736 141046736 single base substitution A G intron_variant MELA-AU 3 141046942 141046942 single base substitution C A intron_variant MELA-AU 3 141047037 141047037 single base substitution A T intron_variant MELA-AU 3 141047117 141047117 single base substitution C T intron_variant MELA-AU 3 141047501 141047501 single base substitution C A intron_variant MELA-AU 3 141047697 141047697 single base substitution G A intron_variant MELA-AU 3 141047719 141047719 single base substitution C T intron_variant MELA-AU 3 141047752 141047752 single base substitution C T intron_variant MELA-AU 3 141047832 141047832 single base substitution C T intron_variant MELA-AU 3 141048001 141048001 single base substitution C T intron_variant MELA-AU 3 141048123 141048123 single base substitution C T intron_variant MELA-AU 3 141048148 141048148 single base substitution G A intron_variant MELA-AU 3 141048206 141048206 single base substitution C T intron_variant MELA-AU 3 141048685 141048685 single base substitution G A intron_variant MELA-AU 3 141048747 141048747 single base substitution G A intron_variant MELA-AU 3 141048790 141048790 single base substitution G A intron_variant MELA-AU 3 141048859 141048859 single base substitution A G intron_variant MELA-AU 3 141048966 141048966 single base substitution G A intron_variant MELA-AU 3 141048999 141048999 single base substitution C T intron_variant MELA-AU 3 141049063 141049063 single base substitution C T intron_variant MELA-AU 3 141049168 141049168 single base substitution C T intron_variant MELA-AU 3 141049781 141049795 deletion of <=200bp TAAAGGAAATACATT - intron_variant MELA-AU 3 141049880 141049880 single base substitution C T intron_variant MELA-AU 3 141051008 141051008 single base substitution G A intron_variant MELA-AU 3 141051615 141051615 single base substitution G A intron_variant MELA-AU 3 141051625 141051625 single base substitution A G intron_variant MELA-AU 3 141052157 141052157 single base substitution G A intron_variant MELA-AU 3 141052202 141052202 single base substitution C T intron_variant MELA-AU 3 141052213 141052213 single base substitution C T intron_variant MELA-AU 3 141052283 141052283 single base substitution C T intron_variant MELA-AU 3 141052481 141052481 single base substitution C T intron_variant MELA-AU 3 141052698 141052698 single base substitution C T intron_variant MELA-AU 3 141052925 141052925 single base substitution C T intron_variant MELA-AU 3 141053234 141053234 single base substitution C T intron_variant MELA-AU 3 141053247 141053247 single base substitution T C intron_variant MELA-AU 3 141053250 141053250 single base substitution C T intron_variant MELA-AU 3 141053330 141053330 single base substitution C T intron_variant MELA-AU 3 141053347 141053348 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 141053741 141053741 single base substitution G A intron_variant MELA-AU 3 141053856 141053856 single base substitution G A intron_variant MELA-AU 3 141054187 141054187 single base substitution C T intron_variant MELA-AU 3 141054805 141054805 single base substitution G A intron_variant MELA-AU 3 141055766 141055766 single base substitution C T intron_variant MELA-AU 3 141056062 141056062 single base substitution T A intron_variant MELA-AU 3 141056217 141056217 single base substitution A T intron_variant MELA-AU 3 141057349 141057349 single base substitution G A intron_variant MELA-AU 3 141057525 141057525 single base substitution C T intron_variant MELA-AU 3 141057580 141057580 single base substitution C T intron_variant MELA-AU 3 141057657 141057657 single base substitution G A intron_variant MELA-AU 3 141057990 141057990 single base substitution G A intron_variant MELA-AU 3 141058034 141058034 single base substitution G A intron_variant MELA-AU 3 141058063 141058064 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 141058190 141058190 single base substitution G A intron_variant MELA-AU 3 141058361 141058361 single base substitution G A intron_variant MELA-AU 3 141059267 141059267 single base substitution G A intron_variant MELA-AU 3 141059436 141059436 single base substitution C T intron_variant MELA-AU 3 141059728 141059729 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 3 141059819 141059819 single base substitution A G intron_variant MELA-AU 3 141060805 141060805 single base substitution C T intron_variant MELA-AU 3 141061050 141061050 single base substitution C T intron_variant MELA-AU 3 141061123 141061123 single base substitution C G intron_variant MELA-AU 3 141061187 141061187 single base substitution G A intron_variant MELA-AU 3 141061358 141061358 single base substitution A G intron_variant MELA-AU 3 141061749 141061749 single base substitution G A intron_variant MELA-AU 3 141061917 141061917 single base substitution C T intron_variant MELA-AU 3 141062326 141062326 single base substitution G A intron_variant MELA-AU 3 141062349 141062349 single base substitution C T intron_variant MELA-AU 3 141062457 141062457 single base substitution C T intron_variant MELA-AU 3 141062599 141062599 single base substitution G A intron_variant MELA-AU 3 141062629 141062629 single base substitution C T intron_variant MELA-AU 3 141062663 141062663 single base substitution C T intron_variant MELA-AU 3 141062677 141062677 single base substitution C T intron_variant MELA-AU 3 141063076 141063076 single base substitution G A intron_variant MELA-AU 3 141063133 141063133 single base substitution C T intron_variant MELA-AU 3 141063378 141063378 single base substitution T A intron_variant MELA-AU 3 141063424 141063424 single base substitution C T intron_variant MELA-AU 3 141063670 141063670 single base substitution C T intron_variant MELA-AU 3 141063722 141063722 single base substitution A G intron_variant MELA-AU 3 141064171 141064171 single base substitution G A intron_variant MELA-AU 3 141064724 141064724 single base substitution G A intron_variant MELA-AU 3 141064737 141064737 single base substitution C T intron_variant MELA-AU 3 141064746 141064746 single base substitution G A intron_variant MELA-AU 3 141064999 141064999 single base substitution G A intron_variant MELA-AU 3 141065137 141065137 single base substitution G A intron_variant MELA-AU 3 141065173 141065174 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 141065242 141065242 single base substitution C T intron_variant MELA-AU 3 141065417 141065417 single base substitution T C intron_variant MELA-AU 3 141065553 141065553 single base substitution G A intron_variant MELA-AU 3 141065619 141065619 single base substitution T G intron_variant MELA-AU 3 141066075 141066075 single base substitution G A intron_variant MELA-AU 3 141066194 141066194 single base substitution C T intron_variant MELA-AU 3 141066351 141066351 single base substitution G A intron_variant MELA-AU 3 141066595 141066595 single base substitution G A intron_variant MELA-AU 3 141066932 141066933 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 141067080 141067080 single base substitution G A intron_variant MELA-AU 3 141067209 141067209 single base substitution G A intron_variant MELA-AU 3 141067324 141067324 single base substitution C T intron_variant MELA-AU 3 141067357 141067357 single base substitution G T intron_variant MELA-AU 3 141067405 141067405 single base substitution C T intron_variant MELA-AU 3 141067541 141067541 single base substitution G A intron_variant MELA-AU 3 141067678 141067678 single base substitution G A intron_variant MELA-AU 3 141068077 141068077 single base substitution C T intron_variant MELA-AU 3 141068306 141068306 single base substitution A G intron_variant MELA-AU 3 141069326 141069326 single base substitution C T intron_variant MELA-AU 3 141069683 141069683 single base substitution C T intron_variant MELA-AU 3 141069767 141069767 single base substitution C T intron_variant MELA-AU 3 141069951 141069951 single base substitution G A intron_variant MELA-AU 3 141070007 141070007 single base substitution G A intron_variant MELA-AU 3 141070310 141070310 single base substitution C T intron_variant MELA-AU 3 141070726 141070726 single base substitution C T intron_variant MELA-AU 3 141070769 141070769 single base substitution T C intron_variant MELA-AU 3 141070845 141070845 single base substitution C T intron_variant MELA-AU 3 141071028 141071028 single base substitution G A intron_variant MELA-AU 3 141071067 141071067 single base substitution G A intron_variant MELA-AU 3 141071079 141071079 single base substitution C T intron_variant MELA-AU 3 141071405 141071405 single base substitution G A intron_variant MELA-AU 3 141071429 141071429 single base substitution G A intron_variant MELA-AU 3 141071445 141071445 single base substitution G A intron_variant MELA-AU 3 141071605 141071605 single base substitution G A intron_variant MELA-AU 3 141071717 141071717 single base substitution G A intron_variant MELA-AU 3 141071941 141071941 single base substitution C T intron_variant MELA-AU 3 141072088 141072088 single base substitution C T intron_variant MELA-AU 3 141072116 141072116 single base substitution C T intron_variant MELA-AU 3 141072184 141072184 single base substitution C T intron_variant MELA-AU 3 141072419 141072419 single base substitution G A intron_variant MELA-AU 3 141072751 141072751 single base substitution T C intron_variant MELA-AU 3 141072882 141072882 single base substitution C T intron_variant MELA-AU 3 141072938 141072938 single base substitution G A intron_variant MELA-AU 3 141073035 141073035 single base substitution C T intron_variant MELA-AU 3 141073201 141073201 single base substitution A C intron_variant MELA-AU 3 141073274 141073274 single base substitution C T intron_variant MELA-AU 3 141073480 141073480 single base substitution G A intron_variant MELA-AU 3 141073732 141073732 single base substitution G A intron_variant MELA-AU 3 141073767 141073767 single base substitution G A intron_variant MELA-AU 3 141073962 141073962 single base substitution G A intron_variant MELA-AU 3 141074152 141074152 single base substitution G A intron_variant MELA-AU 3 141074393 141074393 single base substitution C T intron_variant MELA-AU 3 141074473 141074473 single base substitution G A intron_variant MELA-AU 3 141074489 141074489 single base substitution G A intron_variant MELA-AU 3 141074600 141074600 single base substitution C T intron_variant MELA-AU 3 141074639 141074639 single base substitution C T intron_variant MELA-AU 3 141074690 141074691 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 141074691 141074691 single base substitution C T intron_variant MELA-AU 3 141074711 141074711 single base substitution C T intron_variant MELA-AU 3 141074748 141074748 single base substitution C T intron_variant MELA-AU 3 141074751 141074751 single base substitution C T intron_variant MELA-AU 3 141074757 141074757 single base substitution G A intron_variant MELA-AU 3 141074786 141074786 single base substitution C T intron_variant MELA-AU 3 141075118 141075118 single base substitution G A intron_variant MELA-AU 3 141075498 141075498 single base substitution C T intron_variant MELA-AU 3 141076261 141076261 single base substitution G A intron_variant MELA-AU 3 141076755 141076755 single base substitution G A intron_variant MELA-AU 3 141076834 141076834 single base substitution C T intron_variant MELA-AU 3 141077248 141077248 single base substitution G A intron_variant MELA-AU 3 141077310 141077310 single base substitution C T intron_variant MELA-AU 3 141077888 141077888 single base substitution G A intron_variant MELA-AU 3 141078372 141078372 single base substitution G A intron_variant MELA-AU 3 141078570 141078570 single base substitution C T intron_variant MELA-AU 3 141078679 141078679 single base substitution G A intron_variant MELA-AU 3 141078880 141078880 single base substitution C T intron_variant MELA-AU 3 141079202 141079202 single base substitution G A intron_variant MELA-AU 3 141079227 141079227 single base substitution C T intron_variant MELA-AU 3 141079229 141079229 single base substitution G A intron_variant MELA-AU 3 141080285 141080285 single base substitution T C intron_variant MELA-AU 3 141080845 141080845 single base substitution G A intron_variant MELA-AU 3 141081572 141081572 single base substitution C T intron_variant MELA-AU 3 141082185 141082185 single base substitution T C intron_variant MELA-AU 3 141082185 141082185 single base substitution T C upstream_gene_variant MELA-AU 3 141082283 141082283 single base substitution G A intron_variant MELA-AU 3 141082283 141082283 single base substitution G A upstream_gene_variant MELA-AU 3 141082485 141082485 single base substitution G A intron_variant MELA-AU 3 141082485 141082485 single base substitution G A upstream_gene_variant MELA-AU 3 141082647 141082647 single base substitution C T intron_variant MELA-AU 3 141082647 141082647 single base substitution C T upstream_gene_variant MELA-AU 3 141082834 141082834 single base substitution T G intron_variant MELA-AU 3 141082834 141082834 single base substitution T G upstream_gene_variant MELA-AU 3 141083309 141083309 single base substitution C T intron_variant MELA-AU 3 141083309 141083309 single base substitution C T upstream_gene_variant MELA-AU 3 141083463 141083463 single base substitution G A intron_variant MELA-AU 3 141083463 141083463 single base substitution G A upstream_gene_variant MELA-AU 3 141083477 141083477 single base substitution C T intron_variant MELA-AU 3 141083477 141083477 single base substitution C T upstream_gene_variant MELA-AU 3 141083507 141083507 single base substitution G A intron_variant MELA-AU 3 141083507 141083507 single base substitution G A upstream_gene_variant MELA-AU 3 141083937 141083937 single base substitution C T intron_variant MELA-AU 3 141083937 141083937 single base substitution C T upstream_gene_variant MELA-AU 3 141084126 141084126 single base substitution G A intron_variant MELA-AU 3 141084126 141084126 single base substitution G A upstream_gene_variant MELA-AU 3 141084757 141084757 single base substitution G A intron_variant MELA-AU 3 141084757 141084757 single base substitution G A upstream_gene_variant MELA-AU 3 141085527 141085527 single base substitution G A intron_variant MELA-AU 3 141085527 141085527 single base substitution G A upstream_gene_variant MELA-AU 3 141086817 141086817 single base substitution G C intron_variant MELA-AU 3 141086817 141086817 single base substitution G C upstream_gene_variant MELA-AU 3 141087952 141087952 single base substitution A C intron_variant MELA-AU 3 141088840 141088840 single base substitution C T intron_variant MELA-AU 3 141089119 141089119 single base substitution C T intron_variant MELA-AU 3 141089924 141089924 single base substitution C T intron_variant MELA-AU 3 141089986 141089986 single base substitution C T intron_variant MELA-AU 3 141090110 141090110 single base substitution G A intron_variant MELA-AU 3 141091036 141091036 single base substitution C T intron_variant MELA-AU 3 141092239 141092239 single base substitution T C intron_variant MELA-AU 3 141093164 141093164 single base substitution C T intron_variant MELA-AU 3 141094294 141094322 deletion of <=200bp CAAGACACTCTTGGGCAGCCTAGACCTAG - intron_variant MELA-AU 3 141094384 141094384 single base substitution C T intron_variant MELA-AU 3 141094479 141094479 single base substitution G A intron_variant MELA-AU 3 141094586 141094586 single base substitution G A intron_variant MELA-AU 3 141095054 141095054 single base substitution C T intron_variant MELA-AU 3 141095081 141095081 single base substitution T C intron_variant MELA-AU 3 141095709 141095709 single base substitution G A intron_variant MELA-AU 3 141096220 141096220 single base substitution C T intron_variant MELA-AU 3 141096290 141096290 single base substitution T C intron_variant MELA-AU 3 141096319 141096320 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 3 141097729 141097729 single base substitution A C intron_variant MELA-AU 3 141097744 141097744 single base substitution T C intron_variant MELA-AU 3 141098019 141098019 single base substitution C T intron_variant MELA-AU 3 141098151 141098151 single base substitution G A intron_variant MELA-AU 3 141098466 141098466 single base substitution G A intron_variant MELA-AU 3 141099106 141099106 single base substitution G A intron_variant MELA-AU 3 141099106 141099106 single base substitution G A upstream_gene_variant MELA-AU 3 141099249 141099249 single base substitution A G intron_variant MELA-AU 3 141099249 141099249 single base substitution A G upstream_gene_variant MELA-AU 3 141100104 141100104 single base substitution C T intron_variant MELA-AU 3 141100104 141100104 single base substitution C T upstream_gene_variant MELA-AU 3 141100779 141100779 single base substitution C T intron_variant MELA-AU 3 141100779 141100779 single base substitution C T upstream_gene_variant MELA-AU 3 141103494 141103494 single base substitution C T intron_variant MELA-AU 3 141103494 141103494 single base substitution C T upstream_gene_variant MELA-AU 3 141103811 141103811 single base substitution C T intron_variant MELA-AU 3 141103811 141103811 single base substitution C T upstream_gene_variant MELA-AU 3 141103907 141103907 single base substitution C G intron_variant MELA-AU 3 141103907 141103907 single base substitution C G upstream_gene_variant MELA-AU 3 141104354 141104354 single base substitution C T intron_variant MELA-AU 3 141104354 141104354 single base substitution C T upstream_gene_variant MELA-AU 3 141104910 141104910 single base substitution A T intron_variant MELA-AU 3 141104910 141104910 single base substitution A T upstream_gene_variant MELA-AU 3 141104987 141104987 single base substitution A G intron_variant MELA-AU 3 141104987 141104987 single base substitution A G upstream_gene_variant MELA-AU 3 141105158 141105158 single base substitution G T intron_variant MELA-AU 3 141105158 141105158 single base substitution G T upstream_gene_variant MELA-AU 3 141105705 141105705 single base substitution C T exon_variant MELA-AU 3 141105705 141105705 single base substitution C T intron_variant MELA-AU 3 141105705 141105705 single base substitution C T upstream_gene_variant MELA-AU 3 141105779 141105779 single base substitution G A exon_variant MELA-AU 3 141105779 141105779 single base substitution G A splice_region_variant MELA-AU 3 141105779 141105779 single base substitution G A upstream_gene_variant MELA-AU 3 141105849 141105849 single base substitution G A exon_variant MELA-AU 3 141105849 141105849 single base substitution G A intron_variant MELA-AU 3 141105849 141105849 single base substitution G A upstream_gene_variant MELA-AU 3 141106121 141106121 single base substitution C T exon_variant MELA-AU 3 141106121 141106121 single base substitution C T intron_variant MELA-AU 3 141106121 141106121 single base substitution C T upstream_gene_variant MELA-AU 3 141106481 141106481 single base substitution C T downstream_gene_variant MELA-AU 3 141106481 141106481 single base substitution C T exon_variant MELA-AU 3 141106481 141106481 single base substitution C T intron_variant MELA-AU 3 141106481 141106481 single base substitution C T upstream_gene_variant MELA-AU 3 141106661 141106661 single base substitution C T 5_prime_UTR_variant MELA-AU 3 141106661 141106661 single base substitution C T downstream_gene_variant MELA-AU 3 141106661 141106661 single base substitution C T exon_variant MELA-AU 3 141106661 141106661 single base substitution C T intron_variant MELA-AU 3 141106856 141106856 single base substitution G T downstream_gene_variant MELA-AU 3 141106856 141106856 single base substitution G T exon_variant MELA-AU 3 141106856 141106856 single base substitution G T intron_variant MELA-AU 3 141106964 141106964 single base substitution C T downstream_gene_variant MELA-AU 3 141106964 141106964 single base substitution C T exon_variant MELA-AU 3 141106964 141106964 single base substitution C T intron_variant MELA-AU 3 141107159 141107159 single base substitution G A downstream_gene_variant MELA-AU 3 141107159 141107159 single base substitution G A exon_variant MELA-AU 3 141107159 141107159 single base substitution G A intron_variant MELA-AU 3 141107562 141107562 single base substitution C T downstream_gene_variant MELA-AU 3 141107562 141107562 single base substitution C T exon_variant MELA-AU 3 141107562 141107562 single base substitution C T intron_variant MELA-AU 3 141107778 141107778 single base substitution C T downstream_gene_variant MELA-AU 3 141107778 141107778 single base substitution C T exon_variant MELA-AU 3 141107778 141107778 single base substitution C T intron_variant MELA-AU 3 141107836 141107836 single base substitution T C downstream_gene_variant MELA-AU 3 141107836 141107836 single base substitution T C exon_variant MELA-AU 3 141107836 141107836 single base substitution T C intron_variant MELA-AU 3 141108719 141108719 single base substitution C T downstream_gene_variant MELA-AU 3 141108719 141108719 single base substitution C T intron_variant MELA-AU 3 141109534 141109534 single base substitution C T downstream_gene_variant MELA-AU 3 141109534 141109534 single base substitution C T intron_variant MELA-AU 3 141109934 141109934 single base substitution C T downstream_gene_variant MELA-AU 3 141109934 141109934 single base substitution C T intron_variant MELA-AU 3 141110121 141110121 single base substitution C T downstream_gene_variant MELA-AU 3 141110121 141110121 single base substitution C T intron_variant MELA-AU 3 141111217 141111217 single base substitution G A downstream_gene_variant MELA-AU 3 141111217 141111217 single base substitution G A intron_variant MELA-AU 3 141111318 141111318 single base substitution C T downstream_gene_variant MELA-AU 3 141111318 141111318 single base substitution C T intron_variant MELA-AU 3 141111842 141111842 single base substitution C T downstream_gene_variant MELA-AU 3 141111842 141111842 single base substitution C T intron_variant MELA-AU 3 141112709 141112709 single base substitution G A downstream_gene_variant MELA-AU 3 141112709 141112709 single base substitution G A intron_variant MELA-AU 3 141113412 141113412 single base substitution C T downstream_gene_variant MELA-AU 3 141113412 141113412 single base substitution C T intron_variant MELA-AU 3 141114398 141114398 single base substitution A G downstream_gene_variant MELA-AU 3 141114398 141114398 single base substitution A G intron_variant MELA-AU 3 141114408 141114408 single base substitution A T downstream_gene_variant MELA-AU 3 141114408 141114408 single base substitution A T intron_variant MELA-AU 3 141114658 141114658 single base substitution T A downstream_gene_variant MELA-AU 3 141114658 141114658 single base substitution T A intron_variant MELA-AU 3 141114665 141114665 single base substitution C T downstream_gene_variant MELA-AU 3 141114665 141114665 single base substitution C T intron_variant MELA-AU 3 141115182 141115182 single base substitution T G 5_prime_UTR_variant MELA-AU 3 141115182 141115182 single base substitution T G downstream_gene_variant MELA-AU 3 141115182 141115182 single base substitution T G intron_variant MELA-AU 3 141116219 141116219 single base substitution C T downstream_gene_variant MELA-AU 3 141116219 141116219 single base substitution C T intron_variant MELA-AU 3 141116219 141116219 single base substitution C T upstream_gene_variant MELA-AU 3 141116330 141116330 single base substitution C T downstream_gene_variant MELA-AU 3 141116330 141116330 single base substitution C T intron_variant MELA-AU 3 141116330 141116330 single base substitution C T upstream_gene_variant MELA-AU 3 141116331 141116331 single base substitution C T downstream_gene_variant MELA-AU 3 141116331 141116331 single base substitution C T intron_variant MELA-AU 3 141116331 141116331 single base substitution C T upstream_gene_variant MELA-AU 3 141117651 141117651 single base substitution C T downstream_gene_variant MELA-AU 3 141117651 141117651 single base substitution C T intron_variant MELA-AU 3 141117651 141117651 single base substitution C T upstream_gene_variant MELA-AU 3 141118107 141118107 single base substitution C A downstream_gene_variant MELA-AU 3 141118107 141118107 single base substitution C A intron_variant MELA-AU 3 141118107 141118107 single base substitution C A upstream_gene_variant MELA-AU 3 141118752 141118752 single base substitution G A intron_variant MELA-AU 3 141118752 141118752 single base substitution G A upstream_gene_variant MELA-AU 3 141119613 141119613 single base substitution T C intron_variant MELA-AU 3 141119613 141119613 single base substitution T C upstream_gene_variant MELA-AU 3 141121009 141121009 single base substitution G A intron_variant MELA-AU 3 141121009 141121009 single base substitution G A upstream_gene_variant MELA-AU 3 141122176 141122176 single base substitution G A intron_variant MELA-AU 3 141122549 141122549 single base substitution C T intron_variant MELA-AU 3 141123754 141123754 single base substitution C T downstream_gene_variant MELA-AU 3 141123754 141123754 single base substitution C T intron_variant MELA-AU 3 141124255 141124255 single base substitution C T downstream_gene_variant MELA-AU 3 141124255 141124255 single base substitution C T intron_variant MELA-AU 3 141125873 141125873 single base substitution G A downstream_gene_variant MELA-AU 3 141125873 141125873 single base substitution G A intron_variant MELA-AU 3 141126106 141126106 single base substitution A G downstream_gene_variant MELA-AU 3 141126106 141126106 single base substitution A G intron_variant MELA-AU 3 141126687 141126687 single base substitution T A downstream_gene_variant MELA-AU 3 141126687 141126687 single base substitution T A intron_variant MELA-AU 3 141126771 141126771 single base substitution C T downstream_gene_variant MELA-AU 3 141126771 141126771 single base substitution C T intron_variant MELA-AU 3 141127058 141127058 single base substitution C T downstream_gene_variant MELA-AU 3 141127058 141127058 single base substitution C T intron_variant MELA-AU 3 141127599 141127599 single base substitution T C downstream_gene_variant MELA-AU 3 141127599 141127599 single base substitution T C intron_variant MELA-AU 3 141132840 141132840 single base substitution A G intron_variant MELA-AU 3 141133081 141133081 single base substitution T G intron_variant MELA-AU 3 141133770 141133770 single base substitution C T intron_variant MELA-AU 3 141133922 141133922 single base substitution C T intron_variant MELA-AU 3 141134672 141134672 single base substitution C T intron_variant MELA-AU 3 141136004 141136004 single base substitution C T intron_variant MELA-AU 3 141137211 141137211 single base substitution C T intron_variant MELA-AU 3 141137344 141137344 single base substitution C T intron_variant MELA-AU 3 141138897 141138897 single base substitution C T intron_variant MELA-AU 3 141139424 141139424 single base substitution C T intron_variant MELA-AU 3 141139613 141139613 single base substitution T G intron_variant MELA-AU 3 141139758 141139758 single base substitution A G intron_variant MELA-AU 3 141140333 141140333 single base substitution G T intron_variant MELA-AU 3 141140333 141140333 single base substitution G T upstream_gene_variant MELA-AU 3 141141532 141141533 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 141141532 141141533 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 141141891 141141891 single base substitution C T intron_variant MELA-AU 3 141141891 141141891 single base substitution C T upstream_gene_variant MELA-AU 3 141142835 141142835 single base substitution G A intron_variant MELA-AU 3 141142835 141142835 single base substitution G A upstream_gene_variant MELA-AU 3 141143491 141143491 single base substitution C T intron_variant MELA-AU 3 141143491 141143491 single base substitution C T upstream_gene_variant MELA-AU 3 141143784 141143784 single base substitution T C intron_variant MELA-AU 3 141143784 141143784 single base substitution T C upstream_gene_variant MELA-AU 3 141145230 141145230 single base substitution C T intron_variant MELA-AU 3 141147372 141147372 single base substitution C T intron_variant MELA-AU 3 141147372 141147372 single base substitution C T upstream_gene_variant MELA-AU 3 141148585 141148585 single base substitution C T intron_variant MELA-AU 3 141148585 141148585 single base substitution C T upstream_gene_variant MELA-AU 3 141148741 141148741 single base substitution T G intron_variant MELA-AU 3 141148741 141148741 single base substitution T G upstream_gene_variant MELA-AU 3 141148894 141148894 single base substitution C T intron_variant MELA-AU 3 141148894 141148894 single base substitution C T upstream_gene_variant MELA-AU 3 141148937 141148937 single base substitution C T intron_variant MELA-AU 3 141148937 141148937 single base substitution C T upstream_gene_variant MELA-AU 3 141149566 141149566 single base substitution C T intron_variant MELA-AU 3 141149566 141149566 single base substitution C T upstream_gene_variant MELA-AU 3 141150153 141150153 single base substitution G A intron_variant MELA-AU 3 141150153 141150153 single base substitution G A upstream_gene_variant MELA-AU 3 141150181 141150181 single base substitution A T intron_variant MELA-AU 3 141150181 141150181 single base substitution A T upstream_gene_variant MELA-AU 3 141150551 141150551 single base substitution C T intron_variant MELA-AU 3 141150551 141150551 single base substitution C T upstream_gene_variant MELA-AU 3 141151323 141151323 single base substitution G T intron_variant MELA-AU 3 141152113 141152113 single base substitution T C intron_variant MELA-AU 3 141152424 141152424 single base substitution T C intron_variant MELA-AU 3 141152469 141152469 deletion of <=200bp T - intron_variant MELA-AU 3 141152633 141152633 single base substitution C T intron_variant MELA-AU 3 141153536 141153536 single base substitution C T intron_variant MELA-AU 3 141154405 141154405 single base substitution G A intron_variant MELA-AU 3 141154585 141154585 single base substitution G A intron_variant MELA-AU 3 141154752 141154752 single base substitution C T intron_variant MELA-AU 3 141156772 141156772 single base substitution G A intron_variant MELA-AU 3 141157305 141157305 single base substitution C T intron_variant MELA-AU 3 141157702 141157702 single base substitution C T intron_variant MELA-AU 3 141158451 141158451 single base substitution A C intron_variant MELA-AU 3 141158681 141158681 single base substitution C T intron_variant MELA-AU 3 141160628 141160628 single base substitution C T intron_variant MELA-AU 3 141162239 141162239 single base substitution G A downstream_gene_variant MELA-AU 3 141162239 141162239 single base substitution G A missense_variant V337I 1009G>A MELA-AU 3 141162239 141162239 single base substitution G A missense_variant V338I 1012G>A MELA-AU 3 141162239 141162239 single base substitution G A upstream_gene_variant MELA-AU 3 141162293 141162293 single base substitution A G downstream_gene_variant MELA-AU 3 141162293 141162293 single base substitution A G missense_variant T355A 1063A>G MELA-AU 3 141162293 141162293 single base substitution A G missense_variant T356A 1066A>G MELA-AU 3 141162293 141162293 single base substitution A G upstream_gene_variant MELA-AU 3 141162441 141162441 single base substitution G T downstream_gene_variant MELA-AU 3 141162441 141162441 single base substitution G T missense_variant G404V 1211G>T MELA-AU 3 141162441 141162441 single base substitution G T missense_variant G405V 1214G>T MELA-AU 3 141162441 141162441 single base substitution G T upstream_gene_variant MELA-AU 3 141163465 141163465 single base substitution A G downstream_gene_variant MELA-AU 3 141163465 141163465 single base substitution A G synonymous_variant S745S 2235A>G MELA-AU 3 141163465 141163465 single base substitution A G synonymous_variant S746S 2238A>G MELA-AU 3 141163465 141163465 single base substitution A G upstream_gene_variant MELA-AU 3 141163736 141163736 single base substitution C T downstream_gene_variant MELA-AU 3 141163736 141163736 single base substitution C T missense_variant L836F 2506C>T MELA-AU 3 141163736 141163736 single base substitution C T missense_variant L837F 2509C>T MELA-AU 3 141163736 141163736 single base substitution C T upstream_gene_variant MELA-AU 3 141164374 141164374 single base substitution G T downstream_gene_variant MELA-AU 3 141164374 141164374 single base substitution G T synonymous_variant S1048S 3144G>T MELA-AU 3 141164374 141164374 single base substitution G T synonymous_variant S1049S 3147G>T MELA-AU 3 141164374 141164374 single base substitution G T upstream_gene_variant MELA-AU 3 141164480 141164480 single base substitution C T downstream_gene_variant MELA-AU 3 141164480 141164480 single base substitution C T missense_variant H1084Y 3250C>T MELA-AU 3 141164480 141164480 single base substitution C T missense_variant H1085Y 3253C>T MELA-AU 3 141164480 141164480 single base substitution C T upstream_gene_variant MELA-AU 3 141164718 141164718 single base substitution A T downstream_gene_variant MELA-AU 3 141164718 141164718 single base substitution A T missense_variant H1163L 3488A>T MELA-AU 3 141164718 141164718 single base substitution A T missense_variant H1164L 3491A>T MELA-AU 3 141164718 141164718 single base substitution A T upstream_gene_variant MELA-AU 3 141165106 141165106 single base substitution G A 3_prime_UTR_variant MELA-AU 3 141165106 141165106 single base substitution G A downstream_gene_variant MELA-AU 3 141165106 141165106 single base substitution G A upstream_gene_variant MELA-AU 3 141165675 141165675 single base substitution C T 3_prime_UTR_variant MELA-AU 3 141165675 141165675 single base substitution C T downstream_gene_variant MELA-AU 3 141165675 141165675 single base substitution C T upstream_gene_variant MELA-AU 3 141166346 141166346 single base substitution T A 3_prime_UTR_variant MELA-AU 3 141166346 141166346 single base substitution T A downstream_gene_variant MELA-AU 3 141166346 141166346 single base substitution T A intron_variant MELA-AU 3 141166671 141166671 single base substitution T C 3_prime_UTR_variant MELA-AU 3 141166671 141166671 single base substitution T C downstream_gene_variant MELA-AU 3 141168194 141168194 single base substitution C T 3_prime_UTR_variant MELA-AU 3 141168194 141168194 single base substitution C T downstream_gene_variant MELA-AU 3 141168464 141168464 single base substitution C T 3_prime_UTR_variant MELA-AU 3 141168464 141168464 single base substitution C T downstream_gene_variant MELA-AU 3 141168542 141168542 single base substitution A C 3_prime_UTR_variant MELA-AU 3 141168542 141168542 single base substitution A C downstream_gene_variant MELA-AU 3 141169625 141169625 single base substitution T A downstream_gene_variant MELA-AU 3 141169627 141169627 single base substitution A T downstream_gene_variant MELA-AU 3 141169898 141169898 single base substitution G A downstream_gene_variant MELA-AU 3 141170366 141170366 single base substitution A T downstream_gene_variant MELA-AU 3 141170603 141170603 single base substitution C T downstream_gene_variant MELA-AU 3 141170946 141170946 single base substitution T C downstream_gene_variant MELA-AU 3 141172747 141172747 single base substitution C A downstream_gene_variant MELA-AU 3 141173409 141173409 single base substitution T G downstream_gene_variant ORCA-IN 3 141045308 141045308 single base substitution T C intron_variant ORCA-IN 3 141046958 141046958 single base substitution G A intron_variant ORCA-IN 3 141053907 141053907 single base substitution C T intron_variant ORCA-IN 3 141108674 141108674 single base substitution C T downstream_gene_variant ORCA-IN 3 141108674 141108674 single base substitution C T exon_variant ORCA-IN 3 141108674 141108674 single base substitution C T intron_variant ORCA-IN 3 141123265 141123265 single base substitution G A downstream_gene_variant ORCA-IN 3 141123265 141123265 single base substitution G A intron_variant ORCA-IN 3 141130975 141130975 single base substitution C T intron_variant ORCA-IN 3 141131223 141131223 single base substitution G T intron_variant ORCA-IN 3 141143827 141143827 single base substitution C A intron_variant ORCA-IN 3 141143827 141143827 single base substitution C A upstream_gene_variant ORCA-IN 3 141148756 141148756 single base substitution C T intron_variant ORCA-IN 3 141148756 141148756 single base substitution C T upstream_gene_variant ORCA-IN 3 141164507 141164507 single base substitution C T downstream_gene_variant ORCA-IN 3 141164507 141164507 single base substitution C T missense_variant R1093C 3277C>T ORCA-IN 3 141164507 141164507 single base substitution C T missense_variant R1094C 3280C>T ORCA-IN 3 141164507 141164507 single base substitution C T upstream_gene_variant OV-AU 3 141058145 141058145 single base substitution A T intron_variant OV-AU 3 141059013 141059013 single base substitution A G intron_variant OV-AU 3 141062536 141062536 single base substitution T G intron_variant OV-AU 3 141063789 141063789 single base substitution A T intron_variant OV-AU 3 141064454 141064454 single base substitution C G intron_variant OV-AU 3 141064740 141064740 single base substitution C T intron_variant OV-AU 3 141066785 141066785 single base substitution A G intron_variant OV-AU 3 141067190 141067190 single base substitution C T intron_variant OV-AU 3 141069593 141069593 single base substitution G T intron_variant OV-AU 3 141077068 141077068 single base substitution C G intron_variant OV-AU 3 141078532 141078532 single base substitution G A intron_variant OV-AU 3 141078658 141078658 single base substitution A G intron_variant OV-AU 3 141102756 141102756 single base substitution G T intron_variant OV-AU 3 141102756 141102756 single base substitution G T upstream_gene_variant OV-AU 3 141103495 141103495 single base substitution C T intron_variant OV-AU 3 141103495 141103495 single base substitution C T upstream_gene_variant OV-AU 3 141104181 141104181 single base substitution T G intron_variant OV-AU 3 141104181 141104181 single base substitution T G upstream_gene_variant OV-AU 3 141108292 141108292 single base substitution T A downstream_gene_variant OV-AU 3 141108292 141108292 single base substitution T A exon_variant OV-AU 3 141108292 141108292 single base substitution T A intron_variant OV-AU 3 141109374 141109374 single base substitution G C downstream_gene_variant OV-AU 3 141109374 141109374 single base substitution G C intron_variant OV-AU 3 141121159 141121159 single base substitution G A intron_variant OV-AU 3 141121159 141121159 single base substitution G A upstream_gene_variant OV-AU 3 141121628 141121628 single base substitution G A intron_variant OV-AU 3 141121628 141121628 single base substitution G A upstream_gene_variant OV-AU 3 141122606 141122606 single base substitution A C intron_variant OV-AU 3 141135111 141135111 single base substitution T G intron_variant OV-AU 3 141137124 141137124 single base substitution A T intron_variant OV-AU 3 141137125 141137125 single base substitution C T intron_variant OV-AU 3 141141803 141141803 single base substitution C G intron_variant OV-AU 3 141141803 141141803 single base substitution C G upstream_gene_variant OV-AU 3 141145064 141145064 single base substitution A G intron_variant OV-AU 3 141167059 141167059 single base substitution G C 3_prime_UTR_variant OV-AU 3 141167059 141167059 single base substitution G C downstream_gene_variant OV-US 3 141163185 141163185 single base substitution G A downstream_gene_variant OV-US 3 141163185 141163185 single base substitution G A missense_variant G652D 1955G>A OV-US 3 141163185 141163185 single base substitution G A missense_variant G653D 1958G>A OV-US 3 141163185 141163185 single base substitution G A upstream_gene_variant OV-US 3 141164553 141164553 single base substitution C A downstream_gene_variant OV-US 3 141164553 141164553 single base substitution C A missense_variant T1108N 3323C>A OV-US 3 141164553 141164553 single base substitution C A missense_variant T1109N 3326C>A OV-US 3 141164553 141164553 single base substitution C A upstream_gene_variant PACA-AU 3 141044142 141044142 deletion of <=200bp G - intron_variant PACA-AU 3 141046665 141046665 single base substitution A C intron_variant PACA-AU 3 141059514 141059514 single base substitution C T intron_variant PACA-AU 3 141064311 141064311 single base substitution G A intron_variant PACA-AU 3 141068090 141068097 deletion of <=200bp CTGAGTCC - intron_variant PACA-AU 3 141075755 141075755 single base substitution T A intron_variant PACA-AU 3 141076294 141076294 single base substitution A G intron_variant PACA-AU 3 141077110 141077110 single base substitution A T intron_variant PACA-AU 3 141078892 141078892 single base substitution C T intron_variant PACA-AU 3 141094444 141094444 single base substitution G A intron_variant PACA-AU 3 141097453 141097453 single base substitution C T intron_variant PACA-AU 3 141100741 141100744 deletion of <=200bp AACA - intron_variant PACA-AU 3 141100741 141100744 deletion of <=200bp AACA - upstream_gene_variant PACA-AU 3 141101453 141101453 insertion of <=200bp - T intron_variant PACA-AU 3 141101453 141101453 insertion of <=200bp - T upstream_gene_variant PACA-AU 3 141106953 141106953 single base substitution T A downstream_gene_variant PACA-AU 3 141106953 141106953 single base substitution T A exon_variant PACA-AU 3 141106953 141106953 single base substitution T A intron_variant PACA-AU 3 141110467 141110467 single base substitution C T downstream_gene_variant PACA-AU 3 141110467 141110467 single base substitution C T intron_variant PACA-AU 3 141111648 141111648 single base substitution C T downstream_gene_variant PACA-AU 3 141111648 141111648 single base substitution C T intron_variant PACA-AU 3 141116379 141116379 single base substitution G C downstream_gene_variant PACA-AU 3 141116379 141116379 single base substitution G C intron_variant PACA-AU 3 141116379 141116379 single base substitution G C upstream_gene_variant PACA-AU 3 141119839 141119839 single base substitution T A intron_variant PACA-AU 3 141119839 141119839 single base substitution T A upstream_gene_variant PACA-AU 3 141124109 141124109 single base substitution A C downstream_gene_variant PACA-AU 3 141124109 141124109 single base substitution A C intron_variant PACA-AU 3 141126934 141126934 single base substitution C T downstream_gene_variant PACA-AU 3 141126934 141126934 single base substitution C T intron_variant PACA-AU 3 141128324 141128324 single base substitution C G downstream_gene_variant PACA-AU 3 141128324 141128324 single base substitution C G intron_variant PACA-AU 3 141131178 141131179 deletion of <=200bp TC - intron_variant PACA-AU 3 141133515 141133515 single base substitution C T intron_variant PACA-AU 3 141136151 141136151 single base substitution G A intron_variant PACA-AU 3 141143039 141143077 deletion of <=200bp CAGTGAACTTGAAAGACTTTTTATTTAAATAGTTACTGC - intron_variant PACA-AU 3 141143039 141143077 deletion of <=200bp CAGTGAACTTGAAAGACTTTTTATTTAAATAGTTACTGC - upstream_gene_variant PACA-AU 3 141144179 141144179 single base substitution A C intron_variant PACA-AU 3 141144179 141144179 single base substitution A C upstream_gene_variant PACA-AU 3 141147719 141147719 single base substitution G A intron_variant PACA-AU 3 141147719 141147719 single base substitution G A upstream_gene_variant PACA-AU 3 141155614 141155614 single base substitution A G intron_variant PACA-CA 3 141040203 141040203 single base substitution C T upstream_gene_variant PACA-CA 3 141042458 141042458 single base substitution T G upstream_gene_variant PACA-CA 3 141059357 141059357 single base substitution A T intron_variant PACA-CA 3 141060964 141060964 single base substitution C T intron_variant PACA-CA 3 141064995 141064995 single base substitution C T intron_variant PACA-CA 3 141067920 141067920 single base substitution A G intron_variant PACA-CA 3 141070816 141070816 single base substitution A C intron_variant PACA-CA 3 141077157 141077157 single base substitution C G intron_variant PACA-CA 3 141077679 141077679 deletion of <=200bp G - intron_variant PACA-CA 3 141083059 141083059 single base substitution G A intron_variant PACA-CA 3 141083059 141083059 single base substitution G A upstream_gene_variant PACA-CA 3 141085595 141085595 single base substitution G A intron_variant PACA-CA 3 141085595 141085595 single base substitution G A upstream_gene_variant PACA-CA 3 141086217 141086217 single base substitution C T intron_variant PACA-CA 3 141086217 141086217 single base substitution C T upstream_gene_variant PACA-CA 3 141086618 141086618 single base substitution C A intron_variant PACA-CA 3 141086618 141086618 single base substitution C A upstream_gene_variant PACA-CA 3 141086624 141086624 single base substitution G A intron_variant PACA-CA 3 141086624 141086624 single base substitution G A upstream_gene_variant PACA-CA 3 141093285 141093285 single base substitution T C intron_variant PACA-CA 3 141096155 141096155 single base substitution C A intron_variant PACA-CA 3 141100474 141100474 single base substitution G A intron_variant PACA-CA 3 141100474 141100474 single base substitution G A upstream_gene_variant PACA-CA 3 141105816 141105816 single base substitution G A exon_variant PACA-CA 3 141105816 141105816 single base substitution G A intron_variant PACA-CA 3 141105816 141105816 single base substitution G A upstream_gene_variant PACA-CA 3 141107399 141107399 single base substitution C G downstream_gene_variant PACA-CA 3 141107399 141107399 single base substitution C G exon_variant PACA-CA 3 141107399 141107399 single base substitution C G intron_variant PACA-CA 3 141108778 141108778 deletion of <=200bp T - downstream_gene_variant PACA-CA 3 141108778 141108778 deletion of <=200bp T - intron_variant PACA-CA 3 141111841 141111841 single base substitution T C downstream_gene_variant PACA-CA 3 141111841 141111841 single base substitution T C intron_variant PACA-CA 3 141112676 141112676 single base substitution G A downstream_gene_variant PACA-CA 3 141112676 141112676 single base substitution G A intron_variant PACA-CA 3 141113100 141113100 single base substitution C T downstream_gene_variant PACA-CA 3 141113100 141113100 single base substitution C T exon_variant PACA-CA 3 141113100 141113100 single base substitution C T intron_variant PACA-CA 3 141114008 141114008 single base substitution G A downstream_gene_variant PACA-CA 3 141114008 141114008 single base substitution G A intron_variant PACA-CA 3 141114669 141114669 single base substitution G T downstream_gene_variant PACA-CA 3 141114669 141114669 single base substitution G T intron_variant PACA-CA 3 141114719 141114719 single base substitution G T downstream_gene_variant PACA-CA 3 141114719 141114719 single base substitution G T intron_variant PACA-CA 3 141115487 141115487 single base substitution T C downstream_gene_variant PACA-CA 3 141115487 141115487 single base substitution T C intron_variant PACA-CA 3 141122672 141122672 single base substitution A G intron_variant PACA-CA 3 141123568 141123568 single base substitution G A downstream_gene_variant PACA-CA 3 141123568 141123568 single base substitution G A intron_variant PACA-CA 3 141133065 141133065 single base substitution G A intron_variant PACA-CA 3 141133578 141133578 single base substitution G T intron_variant PACA-CA 3 141133605 141133605 single base substitution T A intron_variant PACA-CA 3 141134226 141134226 single base substitution A G intron_variant PACA-CA 3 141146720 141146720 single base substitution A C intron_variant PACA-CA 3 141146720 141146720 single base substitution A C upstream_gene_variant PACA-CA 3 141148387 141148387 single base substitution G C intron_variant PACA-CA 3 141148387 141148387 single base substitution G C upstream_gene_variant PACA-CA 3 141158873 141158873 single base substitution T G intron_variant PACA-CA 3 141159644 141159644 single base substitution G A intron_variant PACA-CA 3 141161435 141161435 single base substitution A G downstream_gene_variant PACA-CA 3 141161435 141161435 single base substitution A G missense_variant I69V 205A>G PACA-CA 3 141161435 141161435 single base substitution A G missense_variant I70V 208A>G PACA-CA 3 141161435 141161435 single base substitution A G upstream_gene_variant PACA-CA 3 141163404 141163404 single base substitution C T downstream_gene_variant PACA-CA 3 141163404 141163404 single base substitution C T missense_variant S725L 2174C>T PACA-CA 3 141163404 141163404 single base substitution C T missense_variant S726L 2177C>T PACA-CA 3 141163404 141163404 single base substitution C T upstream_gene_variant PACA-CA 3 141163508 141163508 single base substitution G A downstream_gene_variant PACA-CA 3 141163508 141163508 single base substitution G A missense_variant E760K 2278G>A PACA-CA 3 141163508 141163508 single base substitution G A missense_variant E761K 2281G>A PACA-CA 3 141163508 141163508 single base substitution G A upstream_gene_variant PACA-CA 3 141164899 141164899 single base substitution A G 3_prime_UTR_variant PACA-CA 3 141164899 141164899 single base substitution A G downstream_gene_variant PACA-CA 3 141164899 141164899 single base substitution A G upstream_gene_variant PACA-CA 3 141166234 141166234 single base substitution T G 3_prime_UTR_variant PACA-CA 3 141166234 141166234 single base substitution T G downstream_gene_variant PACA-CA 3 141166234 141166234 single base substitution T G intron_variant PACA-CA 3 141172753 141172753 single base substitution C T downstream_gene_variant PAEN-AU 3 141048926 141048926 single base substitution A T intron_variant PAEN-AU 3 141069402 141069402 single base substitution C T intron_variant PAEN-AU 3 141073334 141073334 single base substitution C T intron_variant PAEN-AU 3 141090929 141090929 single base substitution T C intron_variant PAEN-AU 3 141105528 141105528 single base substitution C T 5_prime_UTR_variant PAEN-AU 3 141105528 141105528 single base substitution C T exon_variant PAEN-AU 3 141105528 141105528 single base substitution C T intron_variant PAEN-AU 3 141105528 141105528 single base substitution C T upstream_gene_variant PAEN-AU 3 141120012 141120012 single base substitution G A intron_variant PAEN-AU 3 141120012 141120012 single base substitution G A upstream_gene_variant PAEN-AU 3 141128700 141128700 single base substitution A G downstream_gene_variant PAEN-AU 3 141128700 141128700 single base substitution A G intron_variant PAEN-IT 3 141041191 141041191 single base substitution G A upstream_gene_variant PAEN-IT 3 141055252 141055252 single base substitution G A intron_variant PAEN-IT 3 141102360 141102360 single base substitution T G intron_variant PAEN-IT 3 141102360 141102360 single base substitution T G upstream_gene_variant PAEN-IT 3 141108522 141108522 single base substitution A T downstream_gene_variant PAEN-IT 3 141108522 141108522 single base substitution A T exon_variant PAEN-IT 3 141108522 141108522 single base substitution A T intron_variant PAEN-IT 3 141130919 141130919 single base substitution C T intron_variant PAEN-IT 3 141138933 141138933 single base substitution G T intron_variant PBCA-DE 3 141038336 141038336 single base substitution G T upstream_gene_variant PBCA-DE 3 141040341 141040341 single base substitution C G upstream_gene_variant PBCA-DE 3 141040698 141040698 single base substitution C A upstream_gene_variant PBCA-DE 3 141046173 141046173 single base substitution C T intron_variant PBCA-DE 3 141055542 141055542 single base substitution T A intron_variant PBCA-DE 3 141059807 141059807 single base substitution A G intron_variant PBCA-DE 3 141061184 141061184 single base substitution A T intron_variant PBCA-DE 3 141064071 141064071 single base substitution C A intron_variant PBCA-DE 3 141065695 141065695 single base substitution G A intron_variant PBCA-DE 3 141072820 141072820 single base substitution G T intron_variant PBCA-DE 3 141075536 141075536 insertion of <=200bp - T intron_variant PBCA-DE 3 141086170 141086170 single base substitution G A intron_variant PBCA-DE 3 141086170 141086170 single base substitution G A upstream_gene_variant PBCA-DE 3 141115105 141115105 single base substitution A G 5_prime_UTR_variant PBCA-DE 3 141115105 141115105 single base substitution A G downstream_gene_variant PBCA-DE 3 141115105 141115105 single base substitution A G intron_variant PBCA-DE 3 141116615 141116615 single base substitution C T downstream_gene_variant PBCA-DE 3 141116615 141116615 single base substitution C T intron_variant PBCA-DE 3 141116615 141116615 single base substitution C T upstream_gene_variant PBCA-DE 3 141130085 141130085 single base substitution G A intron_variant PBCA-DE 3 141142502 141142502 single base substitution G A intron_variant PBCA-DE 3 141142502 141142502 single base substitution G A upstream_gene_variant PBCA-DE 3 141145928 141145928 single base substitution G T intron_variant PBCA-DE 3 141145928 141145928 single base substitution G T upstream_gene_variant PBCA-DE 3 141147640 141147640 single base substitution C T intron_variant PBCA-DE 3 141147640 141147640 single base substitution C T upstream_gene_variant PBCA-DE 3 141155116 141155116 single base substitution C A intron_variant PBCA-DE 3 141162176 141162176 single base substitution G T downstream_gene_variant PBCA-DE 3 141162176 141162176 single base substitution G T missense_variant V316F 946G>T PBCA-DE 3 141162176 141162176 single base substitution G T missense_variant V317F 949G>T PBCA-DE 3 141162176 141162176 single base substitution G T upstream_gene_variant PBCA-DE 3 141168311 141168311 single base substitution C T 3_prime_UTR_variant PBCA-DE 3 141168311 141168311 single base substitution C T downstream_gene_variant PRAD-CA 3 141043437 141043437 single base substitution T C intron_variant PRAD-CA 3 141052533 141052533 single base substitution A T intron_variant PRAD-CA 3 141053247 141053247 single base substitution T C intron_variant PRAD-CA 3 141053251 141053251 single base substitution C T intron_variant PRAD-CA 3 141096808 141096808 single base substitution C A intron_variant PRAD-CA 3 141112964 141112964 single base substitution T C downstream_gene_variant PRAD-CA 3 141112964 141112964 single base substitution T C intron_variant PRAD-CA 3 141115257 141115257 single base substitution C A 5_prime_UTR_variant PRAD-CA 3 141115257 141115257 single base substitution C A downstream_gene_variant PRAD-CA 3 141115257 141115257 single base substitution C A intron_variant PRAD-UK 3 141041942 141041942 single base substitution C T upstream_gene_variant PRAD-UK 3 141047123 141047123 single base substitution T C intron_variant PRAD-UK 3 141062407 141062407 single base substitution C A intron_variant PRAD-UK 3 141105724 141105724 single base substitution A G 5_prime_UTR_variant PRAD-UK 3 141105724 141105724 single base substitution A G exon_variant PRAD-UK 3 141105724 141105724 single base substitution A G upstream_gene_variant PRAD-UK 3 141112378 141112378 single base substitution C A downstream_gene_variant PRAD-UK 3 141112378 141112378 single base substitution C A intron_variant PRAD-UK 3 141137310 141137310 single base substitution A C intron_variant PRAD-UK 3 141140998 141140998 single base substitution G A intron_variant PRAD-UK 3 141140998 141140998 single base substitution G A upstream_gene_variant PRAD-UK 3 141152479 141152479 insertion of <=200bp - A intron_variant PRAD-UK 3 141153449 141153449 single base substitution T A intron_variant PRAD-UK 3 141157560 141157560 single base substitution C A intron_variant PRAD-UK 3 141169228 141169228 single base substitution C A downstream_gene_variant PRAD-UK 3 141169524 141169524 single base substitution G A downstream_gene_variant PRAD-US 3 141161343 141161343 single base substitution T C downstream_gene_variant PRAD-US 3 141161343 141161343 single base substitution T C missense_variant I38T 113T>C PRAD-US 3 141161343 141161343 single base substitution T C missense_variant I39T 116T>C PRAD-US 3 141161343 141161343 single base substitution T C upstream_gene_variant RECA-EU 3 141045386 141045386 single base substitution G A intron_variant RECA-EU 3 141047733 141047733 single base substitution C G intron_variant RECA-EU 3 141051241 141051241 single base substitution C T intron_variant RECA-EU 3 141061644 141061644 single base substitution A G intron_variant RECA-EU 3 141065626 141065626 single base substitution G T intron_variant RECA-EU 3 141071681 141071681 single base substitution C T intron_variant RECA-EU 3 141071915 141071915 single base substitution T G intron_variant RECA-EU 3 141075706 141075706 single base substitution G A intron_variant RECA-EU 3 141077984 141077984 single base substitution C A intron_variant RECA-EU 3 141104859 141104859 single base substitution A G intron_variant RECA-EU 3 141104859 141104859 single base substitution A G upstream_gene_variant RECA-EU 3 141118794 141118794 single base substitution A G intron_variant RECA-EU 3 141118794 141118794 single base substitution A G upstream_gene_variant RECA-EU 3 141122703 141122703 single base substitution A G intron_variant RECA-EU 3 141130516 141130516 single base substitution C T intron_variant RECA-EU 3 141139632 141139632 single base substitution C T intron_variant RECA-EU 3 141168005 141168005 single base substitution C T 3_prime_UTR_variant RECA-EU 3 141168005 141168005 single base substitution C T downstream_gene_variant RECA-EU 3 141170793 141170793 single base substitution A T downstream_gene_variant SKCA-BR 3 141038181 141038181 single base substitution C T upstream_gene_variant SKCA-BR 3 141047380 141047380 single base substitution C T intron_variant SKCA-BR 3 141050876 141050876 single base substitution C T intron_variant SKCA-BR 3 141050989 141050989 single base substitution C T intron_variant SKCA-BR 3 141052128 141052128 single base substitution G A intron_variant SKCA-BR 3 141052685 141052685 single base substitution C T intron_variant SKCA-BR 3 141057205 141057205 single base substitution C T intron_variant SKCA-BR 3 141057266 141057266 single base substitution G A intron_variant SKCA-BR 3 141059760 141059761 deletion of <=200bp AG - intron_variant SKCA-BR 3 141059761 141059769 deletion of <=200bp GGAAAGGAA - intron_variant SKCA-BR 3 141059786 141059788 deletion of <=200bp AAG - intron_variant SKCA-BR 3 141059792 141059792 single base substitution G A intron_variant SKCA-BR 3 141059803 141059803 single base substitution A G intron_variant SKCA-BR 3 141060779 141060779 insertion of <=200bp - TA intron_variant SKCA-BR 3 141061077 141061077 single base substitution G A intron_variant SKCA-BR 3 141061234 141061234 insertion of <=200bp - CAA intron_variant SKCA-BR 3 141063882 141063882 single base substitution C T intron_variant SKCA-BR 3 141064258 141064258 single base substitution C T intron_variant SKCA-BR 3 141067405 141067405 single base substitution C T intron_variant SKCA-BR 3 141070565 141070565 single base substitution A T intron_variant SKCA-BR 3 141072786 141072786 single base substitution G A intron_variant SKCA-BR 3 141072858 141072858 single base substitution C T intron_variant SKCA-BR 3 141072959 141072959 single base substitution C T intron_variant SKCA-BR 3 141074313 141074313 single base substitution C T intron_variant SKCA-BR 3 141074870 141074870 insertion of <=200bp - ACT intron_variant SKCA-BR 3 141075483 141075483 single base substitution C T intron_variant SKCA-BR 3 141078063 141078063 single base substitution C T intron_variant SKCA-BR 3 141078880 141078880 single base substitution C T intron_variant SKCA-BR 3 141079008 141079008 single base substitution G A intron_variant SKCA-BR 3 141081185 141081185 single base substitution G A intron_variant SKCA-BR 3 141081735 141081735 single base substitution C T intron_variant SKCA-BR 3 141082981 141082981 single base substitution A T intron_variant SKCA-BR 3 141082981 141082981 single base substitution A T upstream_gene_variant SKCA-BR 3 141085917 141085917 single base substitution T C intron_variant SKCA-BR 3 141085917 141085917 single base substitution T C upstream_gene_variant SKCA-BR 3 141085956 141085956 single base substitution C T intron_variant SKCA-BR 3 141085956 141085956 single base substitution C T upstream_gene_variant SKCA-BR 3 141090423 141090423 single base substitution C T intron_variant SKCA-BR 3 141090424 141090424 single base substitution C T intron_variant SKCA-BR 3 141096100 141096100 single base substitution C T intron_variant SKCA-BR 3 141096936 141096936 single base substitution C T intron_variant SKCA-BR 3 141099843 141099843 single base substitution C T intron_variant SKCA-BR 3 141099843 141099843 single base substitution C T upstream_gene_variant SKCA-BR 3 141101857 141101857 single base substitution C T intron_variant SKCA-BR 3 141101857 141101857 single base substitution C T upstream_gene_variant SKCA-BR 3 141105981 141105981 single base substitution G A exon_variant SKCA-BR 3 141105981 141105981 single base substitution G A intron_variant SKCA-BR 3 141105981 141105981 single base substitution G A upstream_gene_variant SKCA-BR 3 141115788 141115788 single base substitution G C downstream_gene_variant SKCA-BR 3 141115788 141115788 single base substitution G C intron_variant SKCA-BR 3 141121543 141121543 single base substitution T G intron_variant SKCA-BR 3 141121543 141121543 single base substitution T G upstream_gene_variant SKCA-BR 3 141121547 141121547 single base substitution T G intron_variant SKCA-BR 3 141121547 141121547 single base substitution T G upstream_gene_variant SKCA-BR 3 141121964 141121964 single base substitution G A 5_prime_UTR_variant SKCA-BR 3 141121964 141121964 single base substitution G A intron_variant SKCA-BR 3 141125225 141125225 single base substitution G A downstream_gene_variant SKCA-BR 3 141125225 141125225 single base substitution G A intron_variant SKCA-BR 3 141127763 141127763 single base substitution T C downstream_gene_variant SKCA-BR 3 141127763 141127763 single base substitution T C intron_variant SKCA-BR 3 141128837 141128837 single base substitution C T downstream_gene_variant SKCA-BR 3 141128837 141128837 single base substitution C T intron_variant SKCA-BR 3 141132605 141132605 single base substitution A C intron_variant SKCA-BR 3 141132609 141132609 single base substitution C T intron_variant SKCA-BR 3 141132677 141132677 single base substitution A C intron_variant SKCA-BR 3 141133251 141133251 single base substitution C T intron_variant SKCA-BR 3 141140099 141140099 single base substitution C T intron_variant SKCA-BR 3 141140099 141140099 single base substitution C T upstream_gene_variant SKCA-BR 3 141140275 141140275 single base substitution C T intron_variant SKCA-BR 3 141140275 141140275 single base substitution C T upstream_gene_variant SKCA-BR 3 141143587 141143587 single base substitution A T intron_variant SKCA-BR 3 141143587 141143587 single base substitution A T upstream_gene_variant SKCA-BR 3 141144440 141144440 single base substitution C A intron_variant SKCA-BR 3 141144440 141144440 single base substitution C A upstream_gene_variant SKCA-BR 3 141145858 141145858 insertion of <=200bp - CT intron_variant SKCA-BR 3 141145858 141145858 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 3 141150181 141150181 insertion of <=200bp - AT intron_variant SKCA-BR 3 141150181 141150181 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 3 141157028 141157028 single base substitution C T intron_variant SKCA-BR 3 141157808 141157808 insertion of <=200bp - AT intron_variant SKCA-BR 3 141159874 141159874 insertion of <=200bp - CA intron_variant SKCA-BR 3 141160916 141160916 insertion of <=200bp - GA intron_variant SKCA-BR 3 141160916 141160916 insertion of <=200bp - GA upstream_gene_variant SKCA-BR 3 141170253 141170253 single base substitution C T downstream_gene_variant SKCM-US 3 141161981 141161981 single base substitution G A downstream_gene_variant SKCM-US 3 141161981 141161981 single base substitution G A missense_variant E251K 751G>A SKCM-US 3 141161981 141161981 single base substitution G A missense_variant E252K 754G>A SKCM-US 3 141161981 141161981 single base substitution G A upstream_gene_variant SKCM-US 3 141162239 141162239 single base substitution G A downstream_gene_variant SKCM-US 3 141162239 141162239 single base substitution G A missense_variant V337I 1009G>A SKCM-US 3 141162239 141162239 single base substitution G A missense_variant V338I 1012G>A SKCM-US 3 141162239 141162239 single base substitution G A upstream_gene_variant SKCM-US 3 141162801 141162801 single base substitution C T downstream_gene_variant SKCM-US 3 141162801 141162801 single base substitution C T missense_variant T524I 1571C>T SKCM-US 3 141162801 141162801 single base substitution C T missense_variant T525I 1574C>T SKCM-US 3 141162801 141162801 single base substitution C T upstream_gene_variant SKCM-US 3 141162981 141162981 single base substitution C T downstream_gene_variant SKCM-US 3 141162981 141162981 single base substitution C T missense_variant S584F 1751C>T SKCM-US 3 141162981 141162981 single base substitution C T missense_variant S585F 1754C>T SKCM-US 3 141162981 141162981 single base substitution C T upstream_gene_variant SKCM-US 3 141163062 141163062 single base substitution C T downstream_gene_variant SKCM-US 3 141163062 141163062 single base substitution C T missense_variant S611F 1832C>T SKCM-US 3 141163062 141163062 single base substitution C T missense_variant S612F 1835C>T SKCM-US 3 141163062 141163062 single base substitution C T upstream_gene_variant SKCM-US 3 141163288 141163288 single base substitution C T downstream_gene_variant SKCM-US 3 141163288 141163288 single base substitution C T synonymous_variant L686L 2058C>T SKCM-US 3 141163288 141163288 single base substitution C T synonymous_variant L687L 2061C>T SKCM-US 3 141163288 141163288 single base substitution C T upstream_gene_variant SKCM-US 3 141163850 141163850 single base substitution C T downstream_gene_variant SKCM-US 3 141163850 141163850 single base substitution C T missense_variant P874S 2620C>T SKCM-US 3 141163850 141163850 single base substitution C T missense_variant P875S 2623C>T SKCM-US 3 141163850 141163850 single base substitution C T upstream_gene_variant SKCM-US 3 141163939 141163939 single base substitution C T downstream_gene_variant SKCM-US 3 141163939 141163939 single base substitution C T synonymous_variant F903F 2709C>T SKCM-US 3 141163939 141163939 single base substitution C T synonymous_variant F904F 2712C>T SKCM-US 3 141163939 141163939 single base substitution C T upstream_gene_variant SKCM-US 3 141164020 141164020 single base substitution G A downstream_gene_variant SKCM-US 3 141164020 141164020 single base substitution G A synonymous_variant Q930Q 2790G>A SKCM-US 3 141164020 141164020 single base substitution G A synonymous_variant Q931Q 2793G>A SKCM-US 3 141164020 141164020 single base substitution G A upstream_gene_variant SKCM-US 3 141164053 141164053 single base substitution G A downstream_gene_variant SKCM-US 3 141164053 141164053 single base substitution G A synonymous_variant K941K 2823G>A SKCM-US 3 141164053 141164053 single base substitution G A synonymous_variant K942K 2826G>A SKCM-US 3 141164053 141164053 single base substitution G A upstream_gene_variant SKCM-US 3 141164718 141164718 single base substitution A T downstream_gene_variant SKCM-US 3 141164718 141164718 single base substitution A T missense_variant H1163L 3488A>T SKCM-US 3 141164718 141164718 single base substitution A T missense_variant H1164L 3491A>T SKCM-US 3 141164718 141164718 single base substitution A T upstream_gene_variant STAD-US 3 141161551 141161551 single base substitution C T downstream_gene_variant STAD-US 3 141161551 141161551 single base substitution C T synonymous_variant L107L 321C>T STAD-US 3 141161551 141161551 single base substitution C T synonymous_variant L108L 324C>T STAD-US 3 141161551 141161551 single base substitution C T upstream_gene_variant STAD-US 3 141161650 141161650 single base substitution A G downstream_gene_variant STAD-US 3 141161650 141161650 single base substitution A G synonymous_variant E140E 420A>G STAD-US 3 141161650 141161650 single base substitution A G synonymous_variant E141E 423A>G STAD-US 3 141161650 141161650 single base substitution A G upstream_gene_variant STAD-US 3 141161920 141161920 single base substitution A C downstream_gene_variant STAD-US 3 141161920 141161920 single base substitution A C missense_variant E230D 690A>C STAD-US 3 141161920 141161920 single base substitution A C missense_variant E231D 693A>C STAD-US 3 141161920 141161920 single base substitution A C upstream_gene_variant STAD-US 3 141162147 141162147 single base substitution G A downstream_gene_variant STAD-US 3 141162147 141162147 single base substitution G A missense_variant R306H 917G>A STAD-US 3 141162147 141162147 single base substitution G A missense_variant R307H 920G>A STAD-US 3 141162147 141162147 single base substitution G A upstream_gene_variant STAD-US 3 141162486 141162486 single base substitution G C downstream_gene_variant STAD-US 3 141162486 141162486 single base substitution G C missense_variant G419A 1256G>C STAD-US 3 141162486 141162486 single base substitution G C missense_variant G420A 1259G>C STAD-US 3 141162486 141162486 single base substitution G C upstream_gene_variant STAD-US 3 141162564 141162564 single base substitution C A downstream_gene_variant STAD-US 3 141162564 141162564 single base substitution C A missense_variant P445Q 1334C>A STAD-US 3 141162564 141162564 single base substitution C A missense_variant P446Q 1337C>A STAD-US 3 141162564 141162564 single base substitution C A upstream_gene_variant STAD-US 3 141162696 141162696 single base substitution C A downstream_gene_variant STAD-US 3 141162696 141162696 single base substitution C A missense_variant P489H 1466C>A STAD-US 3 141162696 141162696 single base substitution C A missense_variant P490H 1469C>A STAD-US 3 141162696 141162696 single base substitution C A upstream_gene_variant STAD-US 3 141162737 141162737 single base substitution A G downstream_gene_variant STAD-US 3 141162737 141162737 single base substitution A G missense_variant R503G 1507A>G STAD-US 3 141162737 141162737 single base substitution A G missense_variant R504G 1510A>G STAD-US 3 141162737 141162737 single base substitution A G upstream_gene_variant STAD-US 3 141162875 141162875 deletion of <=200bp A - downstream_gene_variant STAD-US 3 141162875 141162875 deletion of <=200bp A - frameshift_variant K549 STAD-US 3 141162875 141162875 deletion of <=200bp A - frameshift_variant K550 STAD-US 3 141162875 141162875 deletion of <=200bp A - upstream_gene_variant STAD-US 3 141162875 141162875 insertion of <=200bp - A downstream_gene_variant STAD-US 3 141162875 141162875 insertion of <=200bp - A frameshift_variant K549K? STAD-US 3 141162875 141162875 insertion of <=200bp - A frameshift_variant K550K? STAD-US 3 141162875 141162875 insertion of <=200bp - A upstream_gene_variant STAD-US 3 141162920 141162920 single base substitution A G downstream_gene_variant STAD-US 3 141162920 141162920 single base substitution A G missense_variant K564E 1690A>G STAD-US 3 141162920 141162920 single base substitution A G missense_variant K565E 1693A>G STAD-US 3 141162920 141162920 single base substitution A G upstream_gene_variant STAD-US 3 141163125 141163125 single base substitution C A downstream_gene_variant STAD-US 3 141163125 141163125 single base substitution C A missense_variant P632Q 1895C>A STAD-US 3 141163125 141163125 single base substitution C A missense_variant P633Q 1898C>A STAD-US 3 141163125 141163125 single base substitution C A upstream_gene_variant STAD-US 3 141163525 141163525 single base substitution T C downstream_gene_variant STAD-US 3 141163525 141163525 single base substitution T C synonymous_variant G765G 2295T>C STAD-US 3 141163525 141163525 single base substitution T C synonymous_variant G766G 2298T>C STAD-US 3 141163525 141163525 single base substitution T C upstream_gene_variant STAD-US 3 141163724 141163724 single base substitution A G downstream_gene_variant STAD-US 3 141163724 141163724 single base substitution A G missense_variant N832D 2494A>G STAD-US 3 141163724 141163724 single base substitution A G missense_variant N833D 2497A>G STAD-US 3 141163724 141163724 single base substitution A G upstream_gene_variant STAD-US 3 141163979 141163979 single base substitution C T downstream_gene_variant STAD-US 3 141163979 141163979 single base substitution C T missense_variant R917C 2749C>T STAD-US 3 141163979 141163979 single base substitution C T missense_variant R918C 2752C>T STAD-US 3 141163979 141163979 single base substitution C T upstream_gene_variant STAD-US 3 141164024 141164024 deletion of <=200bp A - downstream_gene_variant STAD-US 3 141164024 141164024 deletion of <=200bp A - frameshift_variant K932 STAD-US 3 141164024 141164024 deletion of <=200bp A - frameshift_variant K933 STAD-US 3 141164024 141164024 deletion of <=200bp A - upstream_gene_variant STAD-US 3 141164211 141164211 single base substitution G A downstream_gene_variant STAD-US 3 141164211 141164211 single base substitution G A missense_variant G994E 2981G>A STAD-US 3 141164211 141164211 single base substitution G A missense_variant G995E 2984G>A STAD-US 3 141164211 141164211 single base substitution G A upstream_gene_variant STAD-US 3 141164238 141164238 single base substitution G A downstream_gene_variant STAD-US 3 141164238 141164238 single base substitution G A missense_variant R1003Q 3008G>A STAD-US 3 141164238 141164238 single base substitution G A missense_variant R1004Q 3011G>A STAD-US 3 141164238 141164238 single base substitution G A upstream_gene_variant STAD-US 3 141164326 141164326 single base substitution C T downstream_gene_variant STAD-US 3 141164326 141164326 single base substitution C T synonymous_variant H1032H 3096C>T STAD-US 3 141164326 141164326 single base substitution C T synonymous_variant H1033H 3099C>T STAD-US 3 141164326 141164326 single base substitution C T upstream_gene_variant STAD-US 3 141164795 141164795 single base substitution G A downstream_gene_variant STAD-US 3 141164795 141164795 single base substitution G A missense_variant G1189S 3565G>A STAD-US 3 141164795 141164795 single base substitution G A missense_variant G1190S 3568G>A STAD-US 3 141164795 141164795 single base substitution G A upstream_gene_variant THCA-SA 3 141162018 141162018 single base substitution G A downstream_gene_variant THCA-SA 3 141162018 141162018 single base substitution G A missense_variant C263Y 788G>A THCA-SA 3 141162018 141162018 single base substitution G A missense_variant C264Y 791G>A THCA-SA 3 141162018 141162018 single base substitution G A upstream_gene_variant UCEC-US 3 141161237 141161237 single base substitution G A missense_variant V3I 7G>A UCEC-US 3 141161237 141161237 single base substitution G A missense_variant V4I 10G>A UCEC-US 3 141161237 141161237 single base substitution G A upstream_gene_variant UCEC-US 3 141161551 141161551 single base substitution C T downstream_gene_variant UCEC-US 3 141161551 141161551 single base substitution C T synonymous_variant L107L 321C>T UCEC-US 3 141161551 141161551 single base substitution C T synonymous_variant L108L 324C>T UCEC-US 3 141161551 141161551 single base substitution C T upstream_gene_variant UCEC-US 3 141161649 141161649 single base substitution A G downstream_gene_variant UCEC-US 3 141161649 141161649 single base substitution A G missense_variant E140G 419A>G UCEC-US 3 141161649 141161649 single base substitution A G missense_variant E141G 422A>G UCEC-US 3 141161649 141161649 single base substitution A G upstream_gene_variant UCEC-US 3 141161945 141161945 single base substitution G T downstream_gene_variant UCEC-US 3 141161945 141161945 single base substitution G T stop_gained E239* 715G>T UCEC-US 3 141161945 141161945 single base substitution G T stop_gained E240* 718G>T UCEC-US 3 141161945 141161945 single base substitution G T upstream_gene_variant UCEC-US 3 141161969 141161969 single base substitution A G downstream_gene_variant UCEC-US 3 141161969 141161969 single base substitution A G missense_variant N247D 739A>G UCEC-US 3 141161969 141161969 single base substitution A G missense_variant N248D 742A>G UCEC-US 3 141161969 141161969 single base substitution A G upstream_gene_variant UCEC-US 3 141161981 141161981 single base substitution G T downstream_gene_variant UCEC-US 3 141161981 141161981 single base substitution G T stop_gained E251* 751G>T UCEC-US 3 141161981 141161981 single base substitution G T stop_gained E252* 754G>T UCEC-US 3 141161981 141161981 single base substitution G T upstream_gene_variant UCEC-US 3 141162159 141162159 single base substitution C A downstream_gene_variant UCEC-US 3 141162159 141162159 single base substitution C A missense_variant P310Q 929C>A UCEC-US 3 141162159 141162159 single base substitution C A missense_variant P311Q 932C>A UCEC-US 3 141162159 141162159 single base substitution C A upstream_gene_variant UCEC-US 3 141162393 141162393 single base substitution G A downstream_gene_variant UCEC-US 3 141162393 141162393 single base substitution G A missense_variant R388Q 1163G>A UCEC-US 3 141162393 141162393 single base substitution G A missense_variant R389Q 1166G>A UCEC-US 3 141162393 141162393 single base substitution G A upstream_gene_variant UCEC-US 3 141162656 141162656 single base substitution C T downstream_gene_variant UCEC-US 3 141162656 141162656 single base substitution C T stop_gained R476* 1426C>T UCEC-US 3 141162656 141162656 single base substitution C T stop_gained R477* 1429C>T UCEC-US 3 141162656 141162656 single base substitution C T upstream_gene_variant UCEC-US 3 141162657 141162657 single base substitution G A downstream_gene_variant UCEC-US 3 141162657 141162657 single base substitution G A missense_variant R476Q 1427G>A UCEC-US 3 141162657 141162657 single base substitution G A missense_variant R477Q 1430G>A UCEC-US 3 141162657 141162657 single base substitution G A upstream_gene_variant UCEC-US 3 141162840 141162840 single base substitution C A downstream_gene_variant UCEC-US 3 141162840 141162840 single base substitution C A missense_variant S537Y 1610C>A UCEC-US 3 141162840 141162840 single base substitution C A missense_variant S538Y 1613C>A UCEC-US 3 141162840 141162840 single base substitution C A upstream_gene_variant UCEC-US 3 141163082 141163082 single base substitution T C downstream_gene_variant UCEC-US 3 141163082 141163082 single base substitution T C missense_variant F618L 1852T>C UCEC-US 3 141163082 141163082 single base substitution T C missense_variant F619L 1855T>C UCEC-US 3 141163082 141163082 single base substitution T C upstream_gene_variant UCEC-US 3 141163624 141163624 single base substitution T C downstream_gene_variant UCEC-US 3 141163624 141163624 single base substitution T C synonymous_variant P798P 2394T>C UCEC-US 3 141163624 141163624 single base substitution T C synonymous_variant P799P 2397T>C UCEC-US 3 141163624 141163624 single base substitution T C upstream_gene_variant UCEC-US 3 141163681 141163681 single base substitution C T downstream_gene_variant UCEC-US 3 141163681 141163681 single base substitution C T synonymous_variant T817T 2451C>T UCEC-US 3 141163681 141163681 single base substitution C T synonymous_variant T818T 2454C>T UCEC-US 3 141163681 141163681 single base substitution C T upstream_gene_variant UCEC-US 3 141164073 141164073 single base substitution C T downstream_gene_variant UCEC-US 3 141164073 141164073 single base substitution C T missense_variant P948L 2843C>T UCEC-US 3 141164073 141164073 single base substitution C T missense_variant P949L 2846C>T UCEC-US 3 141164073 141164073 single base substitution C T upstream_gene_variant UCEC-US 3 141164255 141164255 single base substitution C T downstream_gene_variant UCEC-US 3 141164255 141164255 single base substitution C T missense_variant P1009S 3025C>T UCEC-US 3 141164255 141164255 single base substitution C T missense_variant P1010S 3028C>T UCEC-US 3 141164255 141164255 single base substitution C T upstream_gene_variant UCEC-US 3 141164409 141164409 single base substitution A G downstream_gene_variant UCEC-US 3 141164409 141164409 single base substitution A G missense_variant H1060R 3179A>G UCEC-US 3 141164409 141164409 single base substitution A G missense_variant H1061R 3182A>G UCEC-US 3 141164409 141164409 single base substitution A G upstream_gene_variant UCEC-US 3 141164428 141164428 single base substitution C T downstream_gene_variant UCEC-US 3 141164428 141164428 single base substitution C T synonymous_variant F1066F 3198C>T UCEC-US 3 141164428 141164428 single base substitution C T synonymous_variant F1067F 3201C>T UCEC-US 3 141164428 141164428 single base substitution C T upstream_gene_variant UCEC-US 3 141164564 141164564 single base substitution C A downstream_gene_variant UCEC-US 3 141164564 141164564 single base substitution C A missense_variant H1112N 3334C>A UCEC-US 3 141164564 141164564 single base substitution C A missense_variant H1113N 3337C>A UCEC-US 3 141164564 141164564 single base substitution C A upstream_gene_variant UCEC-US 3 141164706 141164706 single base substitution G A downstream_gene_variant UCEC-US 3 141164706 141164706 single base substitution G A missense_variant G1159D 3476G>A UCEC-US 3 141164706 141164706 single base substitution G A missense_variant G1160D 3479G>A UCEC-US 3 141164706 141164706 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-B5-A11G-01 COSM1039207 c.3179A>G p.H1060R Substitution - Missense 3:141445567-141445567 + TCGA-BR-8487-01 COSM4114054 c.1895C>A p.P632Q Substitution - Missense 3:141444283-141444283 + TCGA-BR-8360-01 COSM4114060 c.3096C>T p.H1032H Substitution - coding silent 3:141445484-141445484 + TCGA-LP-A4AV-01 COSM4825216 c.677C>G p.S226C Substitution - Missense 3:141443065-141443065 + T1743 COSM4742149 c.3490G>A p.E1164K Substitution - Missense 3:141445878-141445878 + ESCC_8 COSM5623505 c.2750G>A p.R917H Substitution - Missense 3:141445138-141445138 + TCGA-B7-5816-01 COSM4114052 c.1507A>G p.R503G Substitution - Missense 3:141443895-141443895 + BCB151T COSM4951455 c.2784C>T p.S928S Substitution - coding silent 3:141445172-141445172 + TCGA-BP-4160-01 COSM3365024 c.3322A>G p.T1108A Substitution - Missense 3:141445710-141445710 + TCGA-EE-A29C-06 COSM3588191 c.3488A>T p.H1163L Substitution - Missense 3:141445876-141445876 + TCGA-B5-A11E-01 COSM1039200 c.1610C>A p.S537Y Substitution - Missense 3:141443998-141443998 + TCGA-A2-A1FX-01 COSM1484686 c.3103G>A p.E1035K Substitution - Missense 3:141445491-141445491 + TCGA-BS-A0UV-01 COSM1039208 c.3198C>T p.F1066F Substitution - coding silent 3:141445586-141445586 + CHC1738T COSM4805273 c.1913G>T p.C638F Substitution - Missense 3:141444301-141444301 + 3N40-VS-3T40 COSM4981685 c.2208G>A p.M736I Substitution - Missense 3:141444596-141444596 + 255 COSM3731724 c.1335A>G p.P445P Substitution - coding silent 3:141443723-141443723 + T2269 COSM4742143 c.1214A>G p.N405S Substitution - Missense 3:141443602-141443602 + PTC_448 COSM5959408 c.788G>A p.C263Y Substitution - Missense 3:141443176-141443176 + PDA_074 COSM5002083 c.955T>G p.S319A Substitution - Missense 3:141443343-141443343 + 016-0040-02TD COSM146113 c.1924C>T p.P642S Substitution - Missense 3:141444312-141444312 + TCGA-A5-A0GP-01 COSM1039195 c.751G>T p.E251* Substitution - Nonsense 3:141443139-141443139 + TCGA-A8-A0A6-01 COSM3846387 c.1144A>C p.T382P Substitution - Missense 3:141443532-141443532 + TCGA-EK-A2PG-01 COSM4819531 c.3257G>C p.R1086T Substitution - Missense 3:141445645-141445645 + FR-CLL_3 COSM4340261 c.2972A>C p.K991T Substitution - Missense 3:141445360-141445360 + HT115 COSM3124646 c.825G>A p.S275S Substitution - coding silent 3:141443213-141443213 + LUAD-YINHD COSM350742 c.1519G>A p.E507K Substitution - Missense 3:141443907-141443907 + TCGA-CK-5913-01 COSM1419552 c.1219C>T p.R407C Substitution - Missense 3:141443607-141443607 + TCGA-A5-A0VP-01 COSM1039191 c.321C>T p.L107L Substitution - coding silent 3:141442709-141442709 + TCGA-AP-A05N-01 COSM1039203 c.2426C>A p.A809D Substitution - Missense 3:141444814-141444814 + 587342 COSM1233142 c.2069A>G p.D690G Substitution - Missense 3:141444457-141444457 + TCGA-F1-6874-01 COSM4114055 c.2295T>C p.G765G Substitution - coding silent 3:141444683-141444683 + CN-AML-08-T COSM5425831 c.2425G>A p.A809T Substitution - Missense 3:141444813-141444813 + TCGA-BT-A3PK-01 COSM1039190 c.7G>A p.V3I Substitution - Missense 3:141442395-141442395 + TCGA-EJ-5516-01 COSM1130328 c.113T>C p.I38T Substitution - Missense 3:141442501-141442501 + TCGA-BH-A42T-01 COSM3846389 c.3508G>A p.E1170K Substitution - Missense 3:141445896-141445896 + LOVO COSM3124671 c.2302G>A p.A768T Substitution - Missense 3:141444690-141444690 + TCGA-AP-A059-01 COSM1039210 c.3476G>A p.G1159D Substitution - Missense 3:141445864-141445864 + TCGA-BR-6455-01 COSM4114061 c.3565G>A p.G1189S Substitution - Missense 3:141445953-141445953 + TCGA-BG-A0MQ-01 COSM1039205 c.2843C>T p.P948L Substitution - Missense 3:141445231-141445231 + PDA_074 COSM3774046 c.898C>G p.P300A Substitution - Missense 3:141443286-141443286 + 4_PRE-TREATMENT COSM1724419 c.507C>T p.S169S Substitution - coding silent 3:141442895-141442895 + TCGA-DS-A0VK-01 COSM460902 c.2932G>C p.E978Q Substitution - Missense 3:141445320-141445320 + TCGA-BP-4761-01 COSM3365020 c.274T>G p.Y92D Substitution - Missense 3:141442662-141442662 + Pat_45_A COSM5863647 c.2042C>T p.A681V Substitution - Missense 3:141444430-141444430 + TCGA-BP-4970-01 COSM479506 c.379T>C p.F127L Substitution - Missense 3:141442767-141442767 + TCGA-EE-A20C-06 COSM3588184 c.1009G>A p.V337I Substitution - Missense 3:141443397-141443397 + CRC-24T COSM5482728 c.1242C>A p.T414T Substitution - coding silent 3:141443630-141443630 + TCGA-CF-A1HS-01 COSM419792 c.1017T>G p.P339P Substitution - coding silent 3:141443405-141443405 + TCGA-AA-3663-01 COSM1419554 c.2606A>G p.Q869R Substitution - Missense 3:141444994-141444994 + CSCC-55-T COSM3124663 c.1894C>T p.P632S Substitution - Missense 3:141444282-141444282 + TCGA-LP-A5U2-01 COSM4833839 c.3261C>T p.I1087I Substitution - coding silent 3:141445649-141445649 + TCGA-AR-A0U2-01 COSM445710 c.1788T>C p.N596N Substitution - coding silent 3:141444176-141444176 + PD18259a COSM5773903 c.2420A>T p.N807I Substitution - Missense 3:141444808-141444808 + TCGA-BR-6452-01 COSM4114056 c.2494A>G p.N832D Substitution - Missense 3:141444882-141444882 + HCC174T COSM3660230 c.619G>A p.D207N Substitution - Missense 3:141443007-141443007 + CSCC-41-T COSM4486465 c.3057C>T p.F1019F Substitution - coding silent 3:141445445-141445445 + CN-AML-NR-08-Dx COSM5002083 c.955T>G p.S319A Substitution - Missense 3:141443343-141443343 + T207 COSM4742145 c.2377A>G p.N793D Substitution - Missense 3:141444765-141444765 + TCGA-AR-A0U0-01 COSM5834562 c.3257_3258insA p.I1087fs*35 Insertion - Frameshift 3:141445645-141445646 + CN-AML-NR-08-Dx COSM5425831 c.2425G>A p.A809T Substitution - Missense 3:141444813-141444813 + P124 COSM1736796 c.1003G>A p.A335T Substitution - Missense 3:141443391-141443391 + LUAD-S01345 COSM397228 c.3G>A p.M1I Substitution - Missense 3:141442391-141442391 + TCGA-AP-A056-01 COSM1039199 c.1427G>A p.R476Q Substitution - Missense 3:141443815-141443815 + TCGA-66-2787-01 COSM728092 c.2739C>A p.D913E Substitution - Missense 3:141445127-141445127 + BK0047D COSM4187815 c.2705_2711delTGTTCGA p.F903fs*27 Deletion - Frameshift 3:141445093-141445099 + TCGA-FR-A3R1-01 COSM3588190 c.2823G>A p.K941K Substitution - coding silent 3:141445211-141445211 + TCGA-G4-6302-01 COSM3695847 c.2880C>T p.C960C Substitution - coding silent 3:141445268-141445268 + YUDIVI COSM5398293 c.2811C>T p.V937V Substitution - coding silent 3:141445199-141445199 + TCGA-B2-4101-01 COSM3365023 c.2385T>C p.V795V Substitution - coding silent 3:141444773-141444773 + TCGA-DS-A0VK-01 COSM460904 c.1430G>C p.R477T Substitution - Missense 3:141443818-141443818 + PTC-7C COSM4157330 c.1885C>T p.P629S Substitution - Missense 3:141444273-141444273 + TCGA-20-0990-01 COSM73335 c.2761A>G p.N921D Substitution - Missense 3:141445149-141445149 + ACA4 COSM5961413 c.112A>G p.I38V Substitution - Missense 3:141442500-141442500 + CSCC-27-T COSM4466146 c.1418C>T p.S473F Substitution - Missense 3:141443806-141443806 + PTC-7C COSM4157332 c.2790G>T p.Q930H Substitution - Missense 3:141445178-141445178 + HCC174 COSM3660230 c.619G>A p.D207N Substitution - Missense 3:141443007-141443007 + PD4120a COSM165658 c.1228G>A p.E410K Substitution - Missense 3:141443616-141443616 + 2492730 COSM5729167 c.1704A>G p.L568L Substitution - coding silent 3:141444092-141444092 + T3724 COSM4742139 c.347T>C p.I116T Substitution - Missense 3:141442735-141442735 + TCGA-HU-8249-01 COSM4114048 c.917G>A p.R306H Substitution - Missense 3:141443305-141443305 + TCGA-EK-A3GK-01 COSM4853536 c.1071C>G p.L357L Substitution - coding silent 3:141443459-141443459 + TCGA-HT-8564-01 COSM3124685 c.3173G>A p.R1058H Substitution - Missense 3:141445561-141445561 + TCGA-B5-A0JY-01 COSM1039209 c.3334C>A p.H1112N Substitution - Missense 3:141445722-141445722 + SNU-175 COSM3124656 c.1500T>C p.A500A Substitution - coding silent 3:141443888-141443888 + 61 COSM5736782 c.632A>G p.E211G Substitution - Missense 3:141443020-141443020 + TCGA-IA-A40Y-01 COSM3992786 c.1486G>A p.V496I Substitution - Missense 3:141443874-141443874 + NPC2F COSM4996291 c.3097A>C p.T1033P Substitution - Missense 3:141445485-141445485 + 4_RESISTANT COSM1724419 c.507C>T p.S169S Substitution - coding silent 3:141442895-141442895 + sysucc-274T COSM3124682 c.3036C>T p.C1012C Substitution - coding silent 3:141445424-141445424 + RK167_C01 COSM1632860 c.639_640insC p.V215fs*16 Insertion - Frameshift 3:141443027-141443028 + TCGA-FW-A3R5-06 COSM581822 c.2709C>T p.F903F Substitution - coding silent 3:141445097-141445097 + 29T COSM3714467 c.3277C>T p.R1093C Substitution - Missense 3:141445665-141445665 + RK053_C01 COSM3767283 c.1239T>C p.P413P Substitution - coding silent 3:141443627-141443627 + HCC159T COSM5806755 c.996G>A p.P332P Substitution - coding silent 3:141443384-141443384 + OSCC-GB_00290111 COSM3714467 c.3277C>T p.R1093C Substitution - Missense 3:141445665-141445665 + MO_1410 COSM5565267 c.791G>A p.R264Q Substitution - Missense 3:141443179-141443179 + ME009T COSM222862 c.2318G>A p.S773N Substitution - Missense 3:141444706-141444706 + S00501 COSM5658432 c.3046G>A p.A1016T Substitution - Missense 3:141445434-141445434 + LC_C15 COSM1186432 c.1016C>G p.P339R Substitution - Missense 3:141443404-141443404 + TCGA-A2-A1G1-01 COSM1484684 c.426A>C p.G142G Substitution - coding silent 3:141442814-141442814 + PD3994a COSM165657 c.2422A>G p.I808V Substitution - Missense 3:141444810-141444810 + TCGA-BR-8363-01 COSM4114051 c.1466C>A p.P489H Substitution - Missense 3:141443854-141443854 + pfg143T COSM4762137 c.2335A>G p.K779E Substitution - Missense 3:141444723-141444723 + TCGA-66-2756-01 COSM728095 c.570A>G p.K190K Substitution - coding silent 3:141442958-141442958 + 1_RESISTANT COSM1721015 c.1448_1449CC>TT p.S483F Substitution - Missense 3:141443836-141443837 + 29 COSM1715981 c.803C>T p.T268I Substitution - Missense 3:141443191-141443191 + PT45 COSM5927313 c.857C>T p.P286L Substitution - Missense 3:141443245-141443245 + PT52 COSM5939185 c.1237C>T p.P413S Substitution - Missense 3:141443625-141443625 + TCGA-EA-A1QT-01 COSM1294090 c.2554C>G p.H852D Substitution - Missense 3:141444942-141444942 + ccRCC-85 COSM1660003 c.3406delA p.T1136fs*23 Deletion - Frameshift 3:141445794-141445794 + HCC11T COSM1616995 c.178_179insC p.N60fs*23 Insertion - Frameshift 3:141442566-141442567 + LN18 COSM3124688 c.3284A>G p.H1095R Substitution - Missense 3:141445672-141445672 + TCGA-CK-5916-01 COSM1419560 c.3304A>C p.R1102R Substitution - coding silent 3:141445692-141445692 + TCGA-D3-A2JH-06 COSM3588189 c.2790G>A p.Q930Q Substitution - coding silent 3:141445178-141445178 + CSCC-10-T COSM4515725 c.1273_1274CC>TT p.P425L Substitution - Missense 3:141443661-141443662 + TCGA-D5-6535-01 COSM1419557 c.2884G>A p.V962M Substitution - Missense 3:141445272-141445272 + C608 COSM4442943 c.1801G>T p.G601C Substitution - Missense 3:141444189-141444189 + TCGA-FW-A3R5-06 COSM3915043 c.2620C>T p.P874S Substitution - Missense 3:141445008-141445008 + PCSI_0083_Pa_X COSM3380424 c.205A>G p.I69V Substitution - Missense 3:141442593-141442593 + 327 COSM3724216 c.267T>A p.N89K Substitution - Missense 3:141442655-141442655 + TCGA-DS-A0VK-01 COSM460903 c.1537G>A p.E513K Substitution - Missense 3:141443925-141443925 + CN-AML-08-T COSM5002083 c.955T>G p.S319A Substitution - Missense 3:141443343-141443343 + TCGA-DR-A0ZM-01 COSM460901 c.3060G>C p.Q1020H Substitution - Missense 3:141445448-141445448 + TCGA-CJ-4874-01 COSM3774046 c.898C>G p.P300A Substitution - Missense 3:141443286-141443286 + CHC1738T COSM4805273 c.1913G>T p.C638F Substitution - Missense 3:141444301-141444301 + TCGA-BP-5185-01 COSM479509 c.1368G>A p.G456G Substitution - coding silent 3:141443756-141443756 + 016 COSM146113 c.1924C>T p.P642S Substitution - Missense 3:141444312-141444312 + CN-AML-NR-08-Dx COSM5425833 c.2475G>A p.P825P Substitution - coding silent 3:141444863-141444863 + SNU-175 COSM3124636 c.374G>A p.R125H Substitution - Missense 3:141442762-141442762 + TCGA-26-1442-01 COSM3124660 c.1733A>G p.Y578C Substitution - Missense 3:141444121-141444121 + LUAD-CHTN-MAD06-00668 COSM359850 c.613A>T p.R205W Substitution - Missense 3:141443001-141443001 + Pat_06_A COSM5863649 c.2216G>A p.S739N Substitution - Missense 3:141444604-141444604 + PTC-7C COSM4157328 c.1882A>C p.S628R Substitution - Missense 3:141444270-141444270 + CHC121T COSM3669090 c.1338C>T p.D446D Substitution - coding silent 3:141443726-141443726 + TCGA-CK-5913-01 COSM1419558 c.3023G>A p.R1008Q Substitution - Missense 3:141445411-141445411 + TCGA-AX-A0J0-01 COSM1039192 c.419A>G p.E140G Substitution - Missense 3:141442807-141442807 + YUSCA COSM5398291 c.869T>A p.L290* Substitution - Nonsense 3:141443257-141443257 + TCGA-DK-A3WW-01 COSM345422 c.555G>C p.L185F Substitution - Missense 3:141442943-141442943 + 49M COSM5594014 c.2909C>T p.P970L Substitution - Missense 3:141445297-141445297 + TCGA-EP-A26S-01 COSM4913637 c.957C>T p.S319S Substitution - coding silent 3:141443345-141443345 + TCGA-GM-A2DB-01 COSM3846386 c.812T>G p.I271R Substitution - Missense 3:141443200-141443200 + TCGA-HU-A4G3-01 COSM4114049 c.1256G>C p.G419A Substitution - Missense 3:141443644-141443644 + TCGA-BP-4762-01 COSM3365022 c.2325G>A p.K775K Substitution - coding silent 3:141444713-141444713 + TCGA-AO-A128-01 COSM3846388 c.1543C>T p.R515* Substitution - Nonsense 3:141443931-141443931 + T3306 COSM4742141 c.824C>T p.S275L Substitution - Missense 3:141443212-141443212 + TCGA-HU-A4G8-01 COSM4114059 c.3008G>A p.R1003Q Substitution - Missense 3:141445396-141445396 + BD57T COSM3124657 c.1645delA p.T551fs*6 Deletion - Frameshift 3:141444033-141444033 + C658 COSM4443455 c.436G>T p.E146* Substitution - Nonsense 3:141442824-141442824 + T3024 COSM4742151 c.3585T>C p.L1195L Substitution - coding silent 3:141445973-141445973 + HT115 COSM3124691 c.3522C>A p.F1174L Substitution - Missense 3:141445910-141445910 + PT33 COSM5908364 c.584C>T p.S195F Substitution - Missense 3:141442972-141442972 + HX30T COSM3660231 c.1174A>G p.I392V Substitution - Missense 3:141443562-141443562 + TCGA-56-6545-01 COSM728096 c.430G>A p.V144I Substitution - Missense 3:141442818-141442818 + RK267_C01 COSM4946435 c.311T>G p.V104G Substitution - Missense 3:141442699-141442699 + GC_325T-GC_325N COSM4772621 c.1227A>C p.L409F Substitution - Missense 3:141443615-141443615 + 578 COSM3724217 c.1243A>G p.I415V Substitution - Missense 3:141443631-141443631 + TCGA-BS-A0UV-01 COSM1039196 c.929C>A p.P310Q Substitution - Missense 3:141443317-141443317 + C135 COSM4618304 c.393G>A p.P131P Substitution - coding silent 3:141442781-141442781 + TCGA-D1-A17D-01 COSM1039202 c.2394T>C p.P798P Substitution - coding silent 3:141444782-141444782 + TCGA-BR-A4QL-01 COSM4114057 c.2749C>T p.R917C Substitution - Missense 3:141445137-141445137 + TCGA-BK-A139-01 COSM1039194 c.739A>G p.N247D Substitution - Missense 3:141443127-141443127 + RK053_C01 COSM3767284 c.1254T>C p.N418N Substitution - coding silent 3:141443642-141443642 + D-02 COSM4766342 c.1608G>T p.K536N Substitution - Missense 3:141443996-141443996 + TCGA-C5-A1MH-01 COSM4820820 c.1661G>A p.G554E Substitution - Missense 3:141444049-141444049 + TCGA-MU-A51Y-01 COSM345422 c.555G>C p.L185F Substitution - Missense 3:141442943-141442943 + LUAD-S01315 COSM345422 c.555G>C p.L185F Substitution - Missense 3:141442943-141442943 + TCGA-HU-A4H4-01 COSM4114058 c.2981G>A p.G994E Substitution - Missense 3:141445369-141445369 + PT52 COSM5939187 c.3227C>T p.T1076I Substitution - Missense 3:141445615-141445615 + TCGA-D5-6540-01 COSM205448 c.36C>T p.D12D Substitution - coding silent 3:141442424-141442424 + TCGA-BT-A3PK-01 COSM3774596 c.2320A>G p.I774V Substitution - Missense 3:141444708-141444708 + SJHGG010326 COSM4970068 c.3134G>A p.R1045Q Substitution - Missense 3:141445522-141445522 + S02245 COSM5678565 c.2667C>T p.L889L Substitution - coding silent 3:141445055-141445055 + HCC098T COSM5806755 c.996G>A p.P332P Substitution - coding silent 3:141443384-141443384 + TCGA-B0-5694-01 COSM479507 c.474C>T p.I158I Substitution - coding silent 3:141442862-141442862 + cSCCP7 COSM139482 c.1684C>T p.P562S Substitution - Missense 3:141444072-141444072 + 585270 COSM324357 c.647G>A p.R216H Substitution - Missense 3:141443035-141443035 + BCB151T COSM4951455 c.2784C>T p.S928S Substitution - coding silent 3:141445172-141445172 + ccRCC-106 COSM1665065 c.1974G>T p.E658D Substitution - Missense 3:141444362-141444362 + TCGA-AX-A0J1-01 COSM1039197 c.1163G>A p.R388Q Substitution - Missense 3:141443551-141443551 + TCGA-BR-4256-01 COSM4114047 c.690A>C p.E230D Substitution - Missense 3:141443078-141443078 + MINO COSM1738930 c.1718G>C p.C573S Substitution - Missense 3:141444106-141444106 + STC232 COSM205449 c.1532C>T p.T511M Substitution - Missense 3:141443920-141443920 + TCGA-FD-A3SS-01 COSM3774595 c.1967G>T p.G656V Substitution - Missense 3:141444355-141444355 + TCGA-BR-8295-01 COSM4114046 c.420A>G p.E140E Substitution - coding silent 3:141442808-141442808 + TCGA-EE-A3JI-06 COSM3588185 c.1571C>T p.T524I Substitution - Missense 3:141443959-141443959 + TCGA-22-5473-01 COSM728090 c.3393C>A p.P1131P Substitution - coding silent 3:141445781-141445781 + LIM2551 COSM4644500 c.2723A>G p.D908G Substitution - Missense 3:141445111-141445111 + PD18264a COSM5797946 c.1623C>T p.I541I Substitution - coding silent 3:141444011-141444011 + TCGA-HT-8564-01 COSM3974195 c.2716G>A p.A906T Substitution - Missense 3:141445104-141445104 + NB-2058 COSM205449 c.1532C>T p.T511M Substitution - Missense 3:141443920-141443920 + TCGA-HU-A4GT-01 COSM4114050 c.1334C>A p.P445Q Substitution - Missense 3:141443722-141443722 + Pat_41_B COSM5863651 c.2539G>A p.A847T Substitution - Missense 3:141444927-141444927 + TCGA-BR-4279-01 COSM1039191 c.321C>T p.L107L Substitution - coding silent 3:141442709-141442709 + CN-AML-08-T COSM5425833 c.2475G>A p.P825P Substitution - coding silent 3:141444863-141444863 + 71M COSM5596152 c.2910C>T p.P970P Substitution - coding silent 3:141445298-141445298 + TCGA-CJ-4902-01 COSM479508 c.555G>T p.L185F Substitution - Missense 3:141442943-141442943 + TCGA-DK-A3IS-01 COSM1308669 c.1208G>C p.G403A Substitution - Missense 3:141443596-141443596 + TCGA-BS-A0UV-01 COSM1039206 c.3025C>T p.P1009S Substitution - Missense 3:141445413-141445413 + TCGA-BP-4352-01 COSM3365021 c.1972G>T p.E658* Substitution - Nonsense 3:141444360-141444360 + 61 COSM5736784 c.1084C>T p.Q362* Substitution - Nonsense 3:141443472-141443472 + PTC-7C COSM4157329 c.1883G>A p.S628N Substitution - Missense 3:141444271-141444271 + TCGA-66-2787-01 COSM728091 c.3385C>T p.Q1129* Substitution - Nonsense 3:141445773-141445773 + TCGA-AP-A059-01 COSM1039198 c.1426C>T p.R476* Substitution - Nonsense 3:141443814-141443814 + 49M COSM5594016 c.1050C>T p.A350A Substitution - coding silent 3:141443438-141443438 + TCGA-A6-5661-01 COSM1419555 c.2660G>A p.S887N Substitution - Missense 3:141445048-141445048 + T2225 COSM4742147 c.2844G>A p.P948P Substitution - coding silent 3:141445232-141445232 + RW7213 COSM1419552 c.1219C>T p.R407C Substitution - Missense 3:141443607-141443607 + 66 COSM5742999 c.622G>A p.V208I Substitution - Missense 3:141443010-141443010 + RMS109_ COSM146113 c.1924C>T p.P642S Substitution - Missense 3:141444312-141444312 + LP6005690-DNA_D02 COSM5036429 c.983A>G p.D328G Substitution - Missense 3:141443371-141443371 + TCGA-76-6192-01 COSM3408291 c.2715C>T p.D905D Substitution - coding silent 3:141445103-141445103 + TCGA-EE-A29E-06 COSM3588187 c.1832C>T p.S611F Substitution - Missense 3:141444220-141444220 + ESCC-147T COSM3940319 c.2003T>A p.F668Y Substitution - Missense 3:141444391-141444391 + WA55 COSM242299 c.1729C>T p.P577S Substitution - Missense 3:141444117-141444117 + CHC121T COSM3669090 c.1338C>T p.D446D Substitution - coding silent 3:141443726-141443726 + TCGA-D3-A3MR-06 COSM3588186 c.1751C>T p.S584F Substitution - Missense 3:141444139-141444139 + PTC-7C COSM4157331 c.2787A>T p.R929S Substitution - Missense 3:141445175-141445175 + TCGA-37-3789-01 COSM728094 c.1899G>T p.L633F Substitution - Missense 3:141444287-141444287 + CHEWS017 COSM4583992 c.2060G>A p.R687Q Substitution - Missense 3:141444448-141444448 + HCC062T COSM5820765 c.2968G>A p.D990N Substitution - Missense 3:141445356-141445356 + TCGA-BS-A0TC-01 COSM1039204 c.2451C>T p.T817T Substitution - coding silent 3:141444839-141444839 + TCGA-18-5592-01 COSM728093 c.2088G>C p.L696F Substitution - Missense 3:141444476-141444476 + TCGA-AX-A0J0-01 COSM1039201 c.1852T>C p.F618L Substitution - Missense 3:141444240-141444240 + 2492729 COSM5727728 c.680C>T p.S227F Substitution - Missense 3:141443068-141443068 + TCGA-BR-A4PE-01 COSM4114053 c.1690A>G p.K564E Substitution - Missense 3:141444078-141444078 + 1_PRE-TREATMENT COSM1721015 c.1448_1449CC>TT p.S483F Substitution - Missense 3:141443836-141443837 + TCGA-D1-A103-01 COSM1039190 c.7G>A p.V3I Substitution - Missense 3:141442395-141442395 + RK095_C01 COSM3702335 c.61T>G p.S21A Substitution - Missense 3:141442449-141442449 + ccRCC-85 COSM1665865 c.3403delA p.T1136fs*23 Deletion - Frameshift 3:141445791-141445791 + TCGA-EE-A2GI-06 COSM3915042 c.751G>A p.E251K Substitution - Missense 3:141443139-141443139 + ESO-0292 COSM1241911 c.2745G>A p.P915P Substitution - coding silent 3:141445133-141445133 + TCGA-FR-A3YO-06 COSM3588188 c.2058C>T p.L686L Substitution - coding silent 3:141444446-141444446 + PC-9BRc1 COSM1685023 c.713G>T p.R238L Substitution - Missense 3:141443101-141443101 + TCGA-24-1103-01 COSM77057 c.3323C>A p.T1108N Substitution - Missense 3:141445711-141445711 + TCGA-13-0885-01 COSM77056 c.1955G>A p.G652D Substitution - Missense 3:141444343-141444343 + HCC092T COSM5806526 c.799A>G p.K267E Substitution - Missense 3:141443187-141443187 + TCGA-CZ-5989-01 COSM479510 c.1816C>T p.Q606* Substitution - Nonsense 3:141444204-141444204 + TCGA-AA-A010-01 COSM286622 c.2027C>A p.S676Y Substitution - Missense 3:141444415-141444415 + ME002T COSM222005 c.3551A>G p.D1184G Substitution - Missense 3:141445939-141445939 + ESCC_BICR_046T COSM5441963 c.3278G>A p.R1093H Substitution - Missense 3:141445666-141445666 + TCGA-E9-A1NA-01 COSM1484685 c.780G>A p.P260P Substitution - coding silent 3:141443168-141443168 + SW480 COSM4655877 c.2032A>C p.T678P Substitution - Missense 3:141444420-141444420 + PD8615a COSM5789225 c.2619G>A p.E873E Substitution - coding silent 3:141445007-141445007 + TCGA-BS-A0UF-01 COSM1039193 c.715G>T p.E239* Substitution - Nonsense 3:141443103-141443103 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.743268 3q23 612218

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - A 3-UTRInsertion . c.3585+124dupA 3 141164926 CM A C Missense p.E230D c.690A>C 3 141161920 STAD A C Synonymous p.G142G c.426A>C 3 141161656 BRCA A G IntronicSNV . c.1-46126A>G 3 141115105 MB A G Missense p.D1184G c.3551A>G 3 141164781 CM A G Missense p.H1060R c.3179A>G 3 141164409 UCEC A G Missense p.I415V c.1243A>G 3 141162473 HNSC A G Missense p.I774V c.2320A>G 3 141163550 BLCA A G Missense p.I808V c.2422A>G 3 141163652 BRCA A G Missense p.N247D c.739A>G 3 141161969 UCEC A G Missense p.N921D c.2761A>G 3 141163991 OV A G Missense p.R503G c.1507A>G 3 141162737 STAD A G Missense p.T1108A c.3322A>G 3 141164552 RCCC A G Missense p.T66A c.196A>G 3 141161426 HNSC A G Missense p.Y578C c.1733A>G 3 141162963 GBM A G Synonymous p.K190K c.570A>G 3 141161800 LUSC A T Missense p.H1163L c.3488A>T 3 141164718 CM A T Synonymous p.P608P c.1824A>T 3 141163054 LUAD A T Synonymous p.V496V c.1488A>T 3 141162718 CM CA - Frameshift p.H1095Lfs*26 c.3284_3285delAC 3 141164513 HNSC C A Missense p.D913E c.2739C>A 3 141163969 LUSC C A Missense p.P955Q c.2864C>A 3 141164094 LUAD C A Missense p.T1108N c.3323C>A 3 141164553 OV C A Synonymous p.P1131P c.3393C>A 3 141164623 LUSC - CGGGGGGGGGG IntronicInsertion . c.1-39907_1-39906insCGGGGGGGGGG 3 141121324 CLL C G Synonymous p.V98V c.294C>G 3 141161524 HNSC C T 3-UTRSNV . c.3585+3496C>T 3 141168311 MB C T Missense p.A231V c.692C>T 3 141161922 MM C T Missense p.P948L c.2843C>T 3 141164073 UCEC C T Missense p.S584F c.1751C>T 3 141162981 CM C T Missense p.S715L c.2144C>T 3 141163374 HNSC C T Missense p.T524I c.1571C>T 3 141162801 CM C T Nonsense p.Q1129* c.3385C>T 3 141164615 LUSC C T Nonsense p.Q606* c.1816C>T 3 141163046 RCCC C T Synonymous p.D905D c.2715C>T 3 141163945 GBM C T Synonymous p.F903F c.2709C>T 3 141163939 LUAD C T Synonymous p.I91I c.273C>T 3 141161503 CM C T Synonymous p.L107L c.321C>T 3 141161551 STAD C T Synonymous p.L107L c.321C>T 3 141161551 UCEC C T Synonymous p.T1188T c.3564C>T 3 141164794 STAD C T Synonymous p.T817T c.2451C>T 3 141163681 UCEC G A Missense p.E1035K c.3103G>A 3 141164333 BRCA G A Missense p.E251K c.751G>A 3 141161981 CM G A Missense p.E291K c.871G>A 3 141162101 LUAD G A Missense p.E295K c.883G>A 3 141162113 LUAD G A Missense p.E40K c.118G>A 3 141161348 CM G A Missense p.E410K c.1228G>A 3 141162458 BRCA G A Missense p.G1189S c.3565G>A 3 141164795 STAD G A Missense p.G652D c.1955G>A 3 141163185 OV G A Missense p.R216H c.647G>A 3 141161877 SCLC G A Missense p.R296K c.887G>A 3 141162117 LUAD G A Missense p.S773N c.2318G>A 3 141163548 CM G A Missense p.V144I c.430G>A 3 141161660 LUSC G A Missense p.V337I c.1009G>A 3 141162239 CM G A Missense p.V3I c.7G>A 3 141161237 BLCA G A Synonymous p.K775K c.2325G>A 3 141163555 RCCC G A Synonymous p.P260P c.780G>A 3 141162010 BRCA G A Synonymous p.Q930Q c.2790G>A 3 141164020 CM G C 3-UTRSNV . c.3585+2G>C 3 141164817 STAD G C Missense p.G403A c.1208G>C 3 141162438 BLCA G C Missense p.L696F c.2088G>C 3 141163318 LUSC G C Synonymous p.V39V c.117G>C 3 141161347 CM G T IntronicSNV . c.1-39926G>T 3 141121305 CLL G T Missense p.E898D c.2694G>T 3 141163924 HNSC G T Missense p.L185F c.555G>T 3 141161785 RCCC G T Missense p.L633F c.1899G>T 3 141163129 LUSC G T Nonsense p.E251* c.751G>T 3 141161981 UCEC G T Nonsense p.E658* c.1972G>T 3 141163202 RCCC T C Missense p.F127L c.379T>C 3 141161609 RCCC T C Missense p.I38T c.113T>C 3 141161343 PRAD T C Synonymous p.G765G c.2295T>C 3 141163525 STAD T C Synonymous p.P798P c.2394T>C 3 141163624 UCEC T C Synonymous p.V795V c.2385T>C 3 141163615 RCCC T G Missense p.Y92D c.274T>G 3 141161504 RCCC T G Synonymous p.P339P c.1017T>G 3 141162247 BLCA