Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 3 12393148 12393149 + Frame_Shift_Ins INS - - A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr3:12393148_12393149insA c.57_58insA c.(58-60)acafs p.T20fs BLCA 3 12421364 12421364 + Missense_Mutation SNP C C G TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr3:12421364C>G c.244C>G c.(244-246)Cca>Gca p.P82A BLCA 3 12422876 12422876 + Silent SNP C C G TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr3:12422876C>G c.366C>G c.(364-366)ctC>ctG p.L122L BLCA 3 12422901 12422902 + Frame_Shift_Ins INS - - C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 g.chr3:12422901_12422902insC c.391_392insC c.(391-393)tccfs p.S131fs BLCA 3 12434122 12434122 + Missense_Mutation SNP C C T TCGA-2F-A9KQ-01A-11D-A38G-08 TCGA-2F-A9KQ-11A-11D-A38J-08 g.chr3:12434122C>T c.490C>T c.(490-492)Cgg>Tgg p.R164W BLCA 3 12434122 12434122 + Missense_Mutation SNP C C T TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 g.chr3:12434122C>T c.490C>T c.(490-492)Cgg>Tgg p.R164W BLCA 3 12434135 12434135 + Missense_Mutation SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 g.chr3:12434135G>A c.503G>A c.(502-504)aGa>aAa p.R168K BLCA 3 12447409 12447409 + Silent SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 g.chr3:12447409C>A c.648C>A c.(646-648)gcC>gcA p.A216A BLCA 3 12447409 12447409 + Silent SNP C C G TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr3:12447409C>G c.648C>G c.(646-648)gcC>gcG p.A216A BLCA 3 12447507 12447507 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr3:12447507C>T c.746C>T c.(745-747)tCa>tTa p.S249L BLCA 3 12447507 12447507 + Missense_Mutation SNP C C T TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 g.chr3:12447507C>T c.746C>T c.(745-747)tCa>tTa p.S249L BLCA 3 12447544 12447544 + Silent SNP G G C TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 g.chr3:12447544G>C c.783G>C c.(781-783)gcG>gcC p.A261A BLCA 3 12458253 12458253 + Missense_Mutation SNP C C G TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr3:12458253C>G c.870C>G c.(868-870)atC>atG p.I290M BLCA 3 12458312 12458312 + Missense_Mutation SNP T T C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr3:12458312T>C c.929T>C c.(928-930)tTt>tCt p.F310S BLCA 3 12458421 12458421 + Silent SNP C C G TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr3:12458421C>G c.1038C>G c.(1036-1038)ctC>ctG p.L346L BLCA 3 12458487 12458487 + Silent SNP C C T TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr3:12458487C>T c.1104C>T c.(1102-1104)ctC>ctT p.L368L BLCA 3 12475473 12475473 + Silent SNP G G A TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr3:12475473G>A c.1347G>A c.(1345-1347)ctG>ctA p.L449L BLCA 3 12475489 12475489 + Missense_Mutation SNP G G C TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr3:12475489G>C c.1363G>C c.(1363-1365)Gag>Cag p.E455Q BLCA 3 12475550 12475550 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 g.chr3:12475550C>T c.1424C>T c.(1423-1425)aCg>aTg p.T475M BLCA 3 12475606 12475606 + Missense_Mutation SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 g.chr3:12475606C>T c.1480C>T c.(1480-1482)Cac>Tac p.H494Y BRCA 3 12421355 12421355 + Missense_Mutation SNP G G A TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 g.chr3:12421355G>A c.235G>A c.(235-237)Gaa>Aaa p.E79K BRCA 3 12434121 12434121 + Missense_Mutation SNP C C G TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 g.chr3:12434121C>G c.489C>G c.(487-489)ttC>ttG p.F163L BRCA 3 12434181 12434182 + Frame_Shift_Ins INS - - A TCGA-AN-A0FW-01A-11W-A050-09 TCGA-AN-A0FW-10A-01W-A055-09 g.chr3:12434181_12434182insA c.549_550insA c.(550-552)aaafs p.K184fs BRCA 3 12447485 12447485 + Missense_Mutation SNP C C G TCGA-A2-A0YC-01A-11D-A117-09 TCGA-A2-A0YC-10A-01D-A10G-09 g.chr3:12447485C>G c.724C>G c.(724-726)Ctg>Gtg p.L242V BRCA 3 12447485 12447485 + Missense_Mutation SNP C C G TCGA-OL-A66H-01A-11D-A29N-09 TCGA-OL-A66H-10A-01D-A29N-09 g.chr3:12447485C>G c.724C>G c.(724-726)Ctg>Gtg p.L242V CESC 3 12421301 12421301 + Missense_Mutation SNP G G C TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 g.chr3:12421301G>C c.181G>C c.(181-183)Gat>Cat p.D61H CESC 3 12458466 12458466 + Silent SNP G G A TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr3:12458466G>A c.1083G>A c.(1081-1083)ttG>ttA p.L361L COAD 3 12393166 12393166 + Silent SNP A A T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:12393166A>T c.75A>T c.(73-75)atA>atT p.I25I COAD 3 12421423 12421423 + Silent SNP G G A TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr3:12421423G>A c.303G>A c.(301-303)gaG>gaA p.E101E COAD 3 12447398 12447398 + Missense_Mutation SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr3:12447398A>G c.637A>G c.(637-639)Atg>Gtg p.M213V COAD 3 12458270 12458270 + Frame_Shift_Del DEL C C - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr3:12458270delC c.887delC c.(886-888)accfs p.T296fs COAD 3 12458477 12458477 + Missense_Mutation SNP A A G TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr3:12458477A>G c.1094A>G c.(1093-1095)gAt>gGt p.D365G COAD 3 12475603 12475603 + Missense_Mutation SNP C C T TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr3:12475603C>T c.1477C>T c.(1477-1479)Ctt>Ttt p.L493F COADREAD 3 12393166 12393166 + Silent SNP A A T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:12393166A>T c.75A>T c.(73-75)atA>atT p.I25I COADREAD 3 12421423 12421423 + Silent SNP G G A TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr3:12421423G>A c.303G>A c.(301-303)gaG>gaA p.E101E COADREAD 3 12447398 12447398 + Missense_Mutation SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr3:12447398A>G c.637A>G c.(637-639)Atg>Gtg p.M213V COADREAD 3 12458270 12458270 + Frame_Shift_Del DEL C C - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr3:12458270delC c.887delC c.(886-888)accfs p.T296fs COADREAD 3 12458477 12458477 + Missense_Mutation SNP A A G TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr3:12458477A>G c.1094A>G c.(1093-1095)gAt>gGt p.D365G COADREAD 3 12475603 12475603 + Missense_Mutation SNP C C T TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr3:12475603C>T c.1477C>T c.(1477-1479)Ctt>Ttt p.L493F DLBC 3 12475443 12475443 + Missense_Mutation SNP C C A TCGA-FF-8042-01A-11D-2210-10 TCGA-FF-8042-10A-01D-2210-10 g.chr3:12475443C>A c.1317C>A c.(1315-1317)gaC>gaA p.D439E ESCA 3 12434182 12434182 + Frame_Shift_Del DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr3:12434182delA c.550delA c.(550-552)aaafs p.K185fs ESCA 3 12447448 12447448 + Silent SNP C C T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr3:12447448C>T c.687C>T c.(685-687)atC>atT p.I229I ESCA 3 12475550 12475550 + Missense_Mutation SNP C C T TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 g.chr3:12475550C>T c.1424C>T c.(1423-1425)aCg>aTg p.T475M GBM 3 12447429 12447429 + Missense_Mutation SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 g.chr3:12447429C>T c.668C>T c.(667-669)gCg>gTg p.A223V GBMLGG 3 12421382 12421382 + Missense_Mutation SNP C C G TCGA-DU-7006-01A-11D-2024-08 TCGA-DU-7006-10A-01D-2024-08 g.chr3:12421382C>G c.262C>G c.(262-264)Cca>Gca p.P88A GBMLGG 3 12447429 12447429 + Missense_Mutation SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 g.chr3:12447429C>T c.668C>T c.(667-669)gCg>gTg p.A223V GBMLGG 3 12458613 12458613 + Silent SNP C C T TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 g.chr3:12458613C>T c.1230C>T c.(1228-1230)agC>agT p.S410S GBMLGG 3 12475550 12475550 + Missense_Mutation SNP C C T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 g.chr3:12475550C>T c.1424C>T c.(1423-1425)aCg>aTg p.T475M HNSC 3 12447412 12447412 + Missense_Mutation SNP G G C TCGA-P3-A5QF-01A-11D-A28R-08 TCGA-P3-A5QF-10A-01D-A28U-08 g.chr3:12447412G>C c.651G>C c.(649-651)gaG>gaC p.E217D KIPAN 3 12422837 12422837 + Silent SNP G G A TCGA-B8-5545-01A-01D-1669-08 TCGA-B8-5545-10A-01D-1669-08 g.chr3:12422837G>A c.327G>A c.(325-327)gaG>gaA p.E109E KIPAN 3 12434123 12434123 + Missense_Mutation SNP G G A TCGA-B0-5702-01A-11D-1534-10 TCGA-B0-5702-11A-01D-1534-10 g.chr3:12434123G>A c.491G>A c.(490-492)cGg>cAg p.R164Q KIPAN 3 12447397 12447397 + Silent SNP G G C TCGA-B1-A657-01A-11D-A31X-10 TCGA-B1-A657-10A-01D-A31X-10 g.chr3:12447397G>C c.636G>C c.(634-636)cgG>cgC p.R212R KIPAN 3 12447494 12447494 + Missense_Mutation SNP C C T TCGA-5P-A9JY-01A-11D-A42J-10 TCGA-5P-A9JY-10A-01D-A42M-10 g.chr3:12447494C>T c.733C>T c.(733-735)Cat>Tat p.H245Y KIRC 3 12422837 12422837 + Silent SNP G G A TCGA-B8-5545-01A-01D-1669-08 TCGA-B8-5545-10A-01D-1669-08 g.chr3:12422837G>A c.327G>A c.(325-327)gaG>gaA p.E109E KIRC 3 12434123 12434123 + Missense_Mutation SNP G G A TCGA-B0-5702-01A-11D-1534-10 TCGA-B0-5702-11A-01D-1534-10 g.chr3:12434123G>A c.491G>A c.(490-492)cGg>cAg p.R164Q KIRP 3 12447397 12447397 + Silent SNP G G C TCGA-B1-A657-01A-11D-A31X-10 TCGA-B1-A657-10A-01D-A31X-10 g.chr3:12447397G>C c.636G>C c.(634-636)cgG>cgC p.R212R KIRP 3 12447494 12447494 + Missense_Mutation SNP C C T TCGA-5P-A9JY-01A-11D-A42J-10 TCGA-5P-A9JY-10A-01D-A42M-10 g.chr3:12447494C>T c.733C>T c.(733-735)Cat>Tat p.H245Y LGG 3 12421382 12421382 + Missense_Mutation SNP C C G TCGA-DU-7006-01A-11D-2024-08 TCGA-DU-7006-10A-01D-2024-08 g.chr3:12421382C>G c.262C>G c.(262-264)Cca>Gca p.P88A LGG 3 12458613 12458613 + Silent SNP C C T TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 g.chr3:12458613C>T c.1230C>T c.(1228-1230)agC>agT p.S410S LGG 3 12475550 12475550 + Missense_Mutation SNP C C T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 g.chr3:12475550C>T c.1424C>T c.(1423-1425)aCg>aTg p.T475M LIHC 3 12458591 12458591 + Missense_Mutation SNP A A T TCGA-DD-AACY-01A-11D-A40R-10 TCGA-DD-AACY-10A-01D-A40U-10 g.chr3:12458591A>T c.1208A>T c.(1207-1209)aAt>aTt p.N403I LUAD 3 12393098 12393098 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 g.chr3:12393098G>A c.7G>A c.(7-9)Gaa>Aaa p.E3K LUAD 3 12434118 12434118 + Missense_Mutation SNP C C G TCGA-44-A4SU-01A-11D-A24P-08 TCGA-44-A4SU-10A-01D-A24P-08 g.chr3:12434118C>G c.486C>G c.(484-486)ttC>ttG p.F162L LUAD 3 12434185 12434185 + Missense_Mutation SNP A A G TCGA-55-7815-01A-11D-2167-08 TCGA-55-7815-10A-01D-2167-08 g.chr3:12434185A>G c.553A>G c.(553-555)Aaa>Gaa p.K185E LUAD 3 12434233 12434233 + Missense_Mutation SNP G G C TCGA-55-8620-01A-11D-2393-08 TCGA-55-8620-10A-01D-2393-08 g.chr3:12434233G>C c.601G>C c.(601-603)Gtg>Ctg p.V201L LUAD 3 12458213 12458213 + Missense_Mutation SNP T T A TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr3:12458213T>A c.830T>A c.(829-831)aTc>aAc p.I277N LUAD 3 12458242 12458242 + Nonsense_Mutation SNP G G T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr3:12458242G>T c.859G>T c.(859-861)Gaa>Taa p.E287* LUAD 3 12458265 12458265 + Silent SNP C C T TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr3:12458265C>T c.882C>T c.(880-882)caC>caT p.H294H LUAD 3 12458304 12458304 + Silent SNP C C A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr3:12458304C>A c.921C>A c.(919-921)atC>atA p.I307I LUAD 3 12458450 12458450 + Missense_Mutation SNP C C A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 g.chr3:12458450C>A c.1067C>A c.(1066-1068)aCa>aAa p.T356K LUAD 3 12458631 12458631 + Silent SNP T T A TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr3:12458631T>A c.1248T>A c.(1246-1248)atT>atA p.I416I LUAD 3 12475578 12475578 + Silent SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 g.chr3:12475578C>A c.1452C>A c.(1450-1452)atC>atA p.I484I LUAD 3 12475588 12475588 + Missense_Mutation SNP G G A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 g.chr3:12475588G>A c.1462G>A c.(1462-1464)Gag>Aag p.E488K OV 3 12458478 12458478 + Silent SNP T T C TCGA-13-1411-01A-01W-0494-09 TCGA-13-1411-10A-01W-0495-09 g.chr3:12458478T>C c.1095T>C c.(1093-1095)gaT>gaC p.D365D PAAD 3 12458305 12458305 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:12458305C>T c.922C>T c.(922-924)Cgc>Tgc p.R308C PRAD 3 12475528 12475528 + Missense_Mutation SNP A A G TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 g.chr3:12475528A>G c.1402A>G c.(1402-1404)Aca>Gca p.T468A SARC 3 12458565 12458565 + Silent SNP C C G TCGA-DX-A8BK-01A-11D-A37C-09 TCGA-DX-A8BK-10A-01D-A37F-09 g.chr3:12458565C>G c.1182C>G c.(1180-1182)ccC>ccG p.P394P SKCM 3 12421229 12421229 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:12421229C>T c.109C>T c.(109-111)Cca>Tca p.P37S SKCM 3 12421299 12421299 + Missense_Mutation SNP T T G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr3:12421299T>G c.179T>G c.(178-180)tTt>tGt p.F60C SKCM 3 12421306 12421306 + Silent SNP C C T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr3:12421306C>T c.186C>T c.(184-186)atC>atT p.I62I SKCM 3 12421374 12421374 + Missense_Mutation SNP G G A TCGA-DA-A1HW-06A-11D-A19A-08 TCGA-DA-A1HW-10A-01D-A19A-08 g.chr3:12421374G>A c.254G>A c.(253-255)aGa>aAa p.R85K SKCM 3 12421418 12421418 + Nonsense_Mutation SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr3:12421418C>T c.298C>T c.(298-300)Caa>Taa p.Q100* SKCM 3 12422909 12422909 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr3:12422909C>T c.399C>T c.(397-399)tcC>tcT p.S133S SKCM 3 12434237 12434237 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr3:12434237G>A c.605G>A c.(604-606)gGg>gAg p.G202E SKCM 3 12447402 12447402 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr3:12447402C>T c.641C>T c.(640-642)cCa>cTa p.P214L SKCM 3 12447418 12447418 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr3:12447418G>A c.657G>A c.(655-657)gaG>gaA p.E219E SKCM 3 12447430 12447430 + Silent SNP G G A TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr3:12447430G>A c.669G>A c.(667-669)gcG>gcA p.A223A SKCM 3 12458329 12458329 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 g.chr3:12458329C>T c.946C>T c.(946-948)Cgc>Tgc p.R316C SKCM 3 12458442 12458442 + Silent SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr3:12458442C>T c.1059C>T c.(1057-1059)atC>atT p.I353I SKCM 3 12458487 12458487 + Silent SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr3:12458487C>T c.1104C>T c.(1102-1104)ctC>ctT p.L368L SKCM 3 12458497 12458497 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 g.chr3:12458497G>A c.1114G>A c.(1114-1116)Ggc>Agc p.G372S SKCM 3 12458497 12458497 + Missense_Mutation SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr3:12458497G>A c.1114G>A c.(1114-1116)Ggc>Agc p.G372S SKCM 3 12458537 12458537 + Missense_Mutation SNP G G A TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr3:12458537G>A c.1154G>A c.(1153-1155)cGa>cAa p.R385Q SKCM 3 12458654 12458654 + Splice_Site SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chr3:12458654G>A c.e6+1

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 3 12393098 12393098 single base substitution G A exon_variant BLCA-CN 3 12393098 12393098 single base substitution G A intron_variant BLCA-CN 3 12393098 12393098 single base substitution G A missense_variant E3K 7G>A BLCA-CN 3 12458323 12458323 single base substitution C G 3_prime_UTR_variant BLCA-CN 3 12458323 12458323 single base substitution C G intron_variant BLCA-CN 3 12458323 12458323 single base substitution C G missense_variant Q286E 856C>G BLCA-CN 3 12458323 12458323 single base substitution C G missense_variant Q292E 874C>G BLCA-CN 3 12458323 12458323 single base substitution C G missense_variant Q314E 940C>G BLCA-US 3 12422901 12422901 insertion of <=200bp - C 3_prime_UTR_variant BLCA-US 3 12422901 12422901 insertion of <=200bp - C downstream_gene_variant BLCA-US 3 12422901 12422901 insertion of <=200bp - C exon_variant BLCA-US 3 12422901 12422901 insertion of <=200bp - C frameshift_variant S101L? BLCA-US 3 12422901 12422901 insertion of <=200bp - C frameshift_variant S103L? BLCA-US 3 12422901 12422901 insertion of <=200bp - C frameshift_variant S109L? BLCA-US 3 12422901 12422901 insertion of <=200bp - C frameshift_variant S131L? BLCA-US 3 12447409 12447409 single base substitution C A 3_prime_UTR_variant BLCA-US 3 12447409 12447409 single base substitution C A exon_variant BLCA-US 3 12447409 12447409 single base substitution C A synonymous_variant A186A 558C>A BLCA-US 3 12447409 12447409 single base substitution C A synonymous_variant A188A 564C>A BLCA-US 3 12447409 12447409 single base substitution C A synonymous_variant A194A 582C>A BLCA-US 3 12447409 12447409 single base substitution C A synonymous_variant A216A 648C>A BLCA-US 3 12447544 12447544 single base substitution G C 3_prime_UTR_variant BLCA-US 3 12447544 12447544 single base substitution G C exon_variant BLCA-US 3 12447544 12447544 single base substitution G C synonymous_variant A231A 693G>C BLCA-US 3 12447544 12447544 single base substitution G C synonymous_variant A233A 699G>C BLCA-US 3 12447544 12447544 single base substitution G C synonymous_variant A239A 717G>C BLCA-US 3 12447544 12447544 single base substitution G C synonymous_variant A261A 783G>C BLCA-US 3 12458253 12458253 single base substitution C G 3_prime_UTR_variant BLCA-US 3 12458253 12458253 single base substitution C G intron_variant BLCA-US 3 12458253 12458253 single base substitution C G missense_variant I262M 786C>G BLCA-US 3 12458253 12458253 single base substitution C G missense_variant I268M 804C>G BLCA-US 3 12458253 12458253 single base substitution C G missense_variant I290M 870C>G BLCA-US 3 12475606 12475606 single base substitution C T 3_prime_UTR_variant BLCA-US 3 12475606 12475606 single base substitution C T missense_variant H466Y 1396C>T BLCA-US 3 12475606 12475606 single base substitution C T missense_variant H472Y 1414C>T BLCA-US 3 12475606 12475606 single base substitution C T missense_variant H494Y 1480C>T BOCA-FR 3 12345855 12345855 single base substitution G A intron_variant BOCA-FR 3 12345855 12345855 single base substitution G A upstream_gene_variant BOCA-FR 3 12360538 12360538 single base substitution C T intron_variant BOCA-FR 3 12431577 12431577 single base substitution A T intron_variant BRCA-EU 3 12325411 12325411 single base substitution C A upstream_gene_variant BRCA-EU 3 12325682 12325682 single base substitution A T upstream_gene_variant BRCA-EU 3 12326705 12326705 single base substitution G T upstream_gene_variant BRCA-EU 3 12327062 12327062 single base substitution C G upstream_gene_variant BRCA-EU 3 12327745 12327745 single base substitution C T upstream_gene_variant BRCA-EU 3 12330038 12330038 single base substitution G C intron_variant BRCA-EU 3 12330038 12330038 single base substitution G C upstream_gene_variant BRCA-EU 3 12330402 12330402 single base substitution G C 5_prime_UTR_variant BRCA-EU 3 12330402 12330402 single base substitution G C intron_variant BRCA-EU 3 12330402 12330402 single base substitution G C upstream_gene_variant BRCA-EU 3 12333061 12333214 multiple base substitution (>=2bp and <=200bp) ATGTTTTAAATTTTATTTAATGCACTTAAAGTAGGTTCTTGGGATAAAATCTATTCAGATGCAATAGGCCATGTTTTGGGGAAAACTTTTGTAGATGTTTAGATAATATCTGTCATCAATAATAGTATATGTTTAAATTATTTTGTAAAAACAG ATTTACATATTTTTACATAT intron_variant BRCA-EU 3 12333214 12333214 single base substitution G C intron_variant BRCA-EU 3 12333703 12333703 single base substitution C G intron_variant BRCA-EU 3 12334486 12334486 single base substitution G C intron_variant BRCA-EU 3 12334849 12334849 deletion of <=200bp A - intron_variant BRCA-EU 3 12335193 12335193 single base substitution T A intron_variant BRCA-EU 3 12335502 12335502 single base substitution C T intron_variant BRCA-EU 3 12336145 12336145 single base substitution G C intron_variant BRCA-EU 3 12336306 12336306 single base substitution C T intron_variant BRCA-EU 3 12336516 12336516 single base substitution C G intron_variant BRCA-EU 3 12336805 12336805 single base substitution G C intron_variant BRCA-EU 3 12337046 12337046 single base substitution C G intron_variant BRCA-EU 3 12337700 12337700 single base substitution G A intron_variant BRCA-EU 3 12338181 12338181 single base substitution G A intron_variant BRCA-EU 3 12338422 12338422 insertion of <=200bp - T intron_variant BRCA-EU 3 12338633 12338633 single base substitution G A intron_variant BRCA-EU 3 12340329 12340329 single base substitution T C intron_variant BRCA-EU 3 12343075 12343075 single base substitution A G intron_variant BRCA-EU 3 12343075 12343075 single base substitution A G upstream_gene_variant BRCA-EU 3 12343109 12343109 single base substitution T G intron_variant BRCA-EU 3 12343109 12343109 single base substitution T G upstream_gene_variant BRCA-EU 3 12348498 12348498 single base substitution G A intron_variant BRCA-EU 3 12349275 12349275 single base substitution C G intron_variant BRCA-EU 3 12349275 12349275 single base substitution C G upstream_gene_variant BRCA-EU 3 12350980 12350980 single base substitution G C intron_variant BRCA-EU 3 12350980 12350980 single base substitution G C upstream_gene_variant BRCA-EU 3 12355597 12355597 single base substitution G T intron_variant BRCA-EU 3 12356689 12356689 single base substitution G C intron_variant BRCA-EU 3 12357695 12357695 single base substitution C G intron_variant BRCA-EU 3 12358231 12358231 insertion of <=200bp - A intron_variant BRCA-EU 3 12359978 12359978 single base substitution T A intron_variant BRCA-EU 3 12360104 12360104 single base substitution C G intron_variant BRCA-EU 3 12360318 12360318 single base substitution C A intron_variant BRCA-EU 3 12361608 12361608 single base substitution G A intron_variant BRCA-EU 3 12362390 12362390 single base substitution G C intron_variant BRCA-EU 3 12362505 12362505 single base substitution C G intron_variant BRCA-EU 3 12362734 12362734 single base substitution G A intron_variant BRCA-EU 3 12362894 12362894 single base substitution T G intron_variant BRCA-EU 3 12363294 12363294 single base substitution G C intron_variant BRCA-EU 3 12365193 12365193 single base substitution A G intron_variant BRCA-EU 3 12365733 12365733 single base substitution G T intron_variant BRCA-EU 3 12365977 12365977 single base substitution G A intron_variant BRCA-EU 3 12366494 12366494 single base substitution G C intron_variant BRCA-EU 3 12367097 12367097 single base substitution C T intron_variant BRCA-EU 3 12368234 12368234 single base substitution A T intron_variant BRCA-EU 3 12368777 12368777 single base substitution A C intron_variant BRCA-EU 3 12369083 12369083 single base substitution C G intron_variant BRCA-EU 3 12371109 12371109 single base substitution C G intron_variant BRCA-EU 3 12371156 12371156 single base substitution C T intron_variant BRCA-EU 3 12371285 12371285 single base substitution C G intron_variant BRCA-EU 3 12374398 12374398 single base substitution G A intron_variant BRCA-EU 3 12375121 12375121 deletion of <=200bp T - intron_variant BRCA-EU 3 12375232 12375232 single base substitution G A intron_variant BRCA-EU 3 12375474 12375474 single base substitution G T intron_variant BRCA-EU 3 12375638 12375638 single base substitution C T intron_variant BRCA-EU 3 12375676 12375676 single base substitution T A intron_variant BRCA-EU 3 12375953 12375953 single base substitution C A intron_variant BRCA-EU 3 12376728 12376728 single base substitution C T intron_variant BRCA-EU 3 12376909 12376909 single base substitution C A intron_variant BRCA-EU 3 12377458 12377458 single base substitution T G intron_variant BRCA-EU 3 12378824 12378824 single base substitution A G intron_variant BRCA-EU 3 12379147 12379147 single base substitution G C intron_variant BRCA-EU 3 12379199 12379199 single base substitution C T intron_variant BRCA-EU 3 12379678 12379678 single base substitution G A intron_variant BRCA-EU 3 12379913 12379913 single base substitution C A intron_variant BRCA-EU 3 12380142 12380142 single base substitution T C intron_variant BRCA-EU 3 12381603 12381603 single base substitution G C intron_variant BRCA-EU 3 12381659 12381659 single base substitution G A intron_variant BRCA-EU 3 12383614 12383614 single base substitution G C intron_variant BRCA-EU 3 12384394 12384394 single base substitution G C intron_variant BRCA-EU 3 12387774 12387774 single base substitution C T intron_variant BRCA-EU 3 12391873 12391873 single base substitution C T intron_variant BRCA-EU 3 12391873 12391873 single base substitution C T upstream_gene_variant BRCA-EU 3 12394406 12394406 deletion of <=200bp C - intron_variant BRCA-EU 3 12394665 12394665 single base substitution G A intron_variant BRCA-EU 3 12394676 12394676 single base substitution C G intron_variant BRCA-EU 3 12395958 12395958 deletion of <=200bp G - intron_variant BRCA-EU 3 12396125 12396125 single base substitution G A intron_variant BRCA-EU 3 12397931 12397931 single base substitution G C intron_variant BRCA-EU 3 12398130 12398130 single base substitution A T intron_variant BRCA-EU 3 12398203 12398204 deletion of <=200bp TT - intron_variant BRCA-EU 3 12399691 12399691 single base substitution G T intron_variant BRCA-EU 3 12400133 12400133 single base substitution G A intron_variant BRCA-EU 3 12400297 12400297 single base substitution C T intron_variant BRCA-EU 3 12400770 12400770 single base substitution A G intron_variant BRCA-EU 3 12403748 12403748 single base substitution G A intron_variant BRCA-EU 3 12404012 12404012 single base substitution C T intron_variant BRCA-EU 3 12404636 12404636 single base substitution C G intron_variant BRCA-EU 3 12404959 12404959 single base substitution G C intron_variant BRCA-EU 3 12405961 12405961 single base substitution G C intron_variant BRCA-EU 3 12406815 12406815 single base substitution C T intron_variant BRCA-EU 3 12407267 12407267 single base substitution T G intron_variant BRCA-EU 3 12408402 12408402 single base substitution C A intron_variant BRCA-EU 3 12408969 12408969 single base substitution C G intron_variant BRCA-EU 3 12412307 12412307 single base substitution G A intron_variant BRCA-EU 3 12412765 12412765 single base substitution A T intron_variant BRCA-EU 3 12413506 12413506 single base substitution T G 3_prime_UTR_variant BRCA-EU 3 12413506 12413506 single base substitution T G 5_prime_UTR_variant BRCA-EU 3 12413506 12413506 single base substitution T G intron_variant BRCA-EU 3 12417011 12417011 single base substitution G A intron_variant BRCA-EU 3 12417011 12417011 single base substitution G A upstream_gene_variant BRCA-EU 3 12417524 12417524 single base substitution C T intron_variant BRCA-EU 3 12417524 12417524 single base substitution C T upstream_gene_variant BRCA-EU 3 12419646 12419646 single base substitution G C intron_variant BRCA-EU 3 12419646 12419646 single base substitution G C upstream_gene_variant BRCA-EU 3 12423175 12423175 single base substitution C T downstream_gene_variant BRCA-EU 3 12423175 12423175 single base substitution C T intron_variant BRCA-EU 3 12425797 12425797 single base substitution G A downstream_gene_variant BRCA-EU 3 12425797 12425797 single base substitution G A intron_variant BRCA-EU 3 12425962 12425962 single base substitution G T downstream_gene_variant BRCA-EU 3 12425962 12425962 single base substitution G T intron_variant BRCA-EU 3 12426533 12426533 single base substitution A T downstream_gene_variant BRCA-EU 3 12426533 12426533 single base substitution A T intron_variant BRCA-EU 3 12428218 12428218 insertion of <=200bp - T intron_variant BRCA-EU 3 12429694 12429694 single base substitution C A intron_variant BRCA-EU 3 12431239 12431239 deletion of <=200bp A - intron_variant BRCA-EU 3 12432265 12432265 single base substitution G A intron_variant BRCA-EU 3 12433759 12433759 single base substitution G A intron_variant BRCA-EU 3 12434927 12434927 single base substitution G A intron_variant BRCA-EU 3 12435825 12435825 single base substitution G A intron_variant BRCA-EU 3 12437338 12437338 single base substitution G C intron_variant BRCA-EU 3 12437598 12437598 single base substitution T A intron_variant BRCA-EU 3 12437630 12437630 deletion of <=200bp T - intron_variant BRCA-EU 3 12438954 12438954 single base substitution G T intron_variant BRCA-EU 3 12439307 12439307 single base substitution G A intron_variant BRCA-EU 3 12440391 12440391 single base substitution G A intron_variant BRCA-EU 3 12440960 12440960 single base substitution C T 3_prime_UTR_variant BRCA-EU 3 12440960 12440960 single base substitution C T intron_variant BRCA-EU 3 12441427 12441427 single base substitution G A intron_variant BRCA-EU 3 12442275 12442275 single base substitution T C intron_variant BRCA-EU 3 12444688 12444688 single base substitution A G intron_variant BRCA-EU 3 12444930 12444930 deletion of <=200bp C - intron_variant BRCA-EU 3 12445811 12445811 single base substitution C A intron_variant BRCA-EU 3 12446391 12446391 single base substitution G A intron_variant BRCA-EU 3 12446860 12446860 single base substitution A G intron_variant BRCA-EU 3 12446930 12446930 single base substitution G T intron_variant BRCA-EU 3 12447448 12447448 single base substitution C T 3_prime_UTR_variant BRCA-EU 3 12447448 12447448 single base substitution C T exon_variant BRCA-EU 3 12447448 12447448 single base substitution C T synonymous_variant I199I 597C>T BRCA-EU 3 12447448 12447448 single base substitution C T synonymous_variant I201I 603C>T BRCA-EU 3 12447448 12447448 single base substitution C T synonymous_variant I207I 621C>T BRCA-EU 3 12447448 12447448 single base substitution C T synonymous_variant I229I 687C>T BRCA-EU 3 12448155 12448155 single base substitution C A exon_variant BRCA-EU 3 12448155 12448155 single base substitution C A intron_variant BRCA-EU 3 12448607 12448607 single base substitution T G downstream_gene_variant BRCA-EU 3 12448607 12448607 single base substitution T G intron_variant BRCA-EU 3 12449767 12449767 single base substitution C T downstream_gene_variant BRCA-EU 3 12449767 12449767 single base substitution C T intron_variant BRCA-EU 3 12450600 12450600 single base substitution G C downstream_gene_variant BRCA-EU 3 12450600 12450600 single base substitution G C intron_variant BRCA-EU 3 12453039 12453039 single base substitution A T downstream_gene_variant BRCA-EU 3 12453039 12453039 single base substitution A T intron_variant BRCA-EU 3 12453757 12453757 single base substitution C T intron_variant BRCA-EU 3 12455136 12455136 single base substitution C T intron_variant BRCA-EU 3 12455968 12455968 deletion of <=200bp T - intron_variant BRCA-EU 3 12457864 12457864 single base substitution G C intron_variant BRCA-EU 3 12460204 12460204 single base substitution C T downstream_gene_variant BRCA-EU 3 12460204 12460204 single base substitution C T intron_variant BRCA-EU 3 12460861 12460861 single base substitution G T downstream_gene_variant BRCA-EU 3 12460861 12460861 single base substitution G T intron_variant BRCA-EU 3 12460921 12460921 single base substitution A G downstream_gene_variant BRCA-EU 3 12460921 12460921 single base substitution A G intron_variant BRCA-EU 3 12461091 12461091 single base substitution C T downstream_gene_variant BRCA-EU 3 12461091 12461091 single base substitution C T intron_variant BRCA-EU 3 12461629 12461629 single base substitution G C downstream_gene_variant BRCA-EU 3 12461629 12461629 single base substitution G C intron_variant BRCA-EU 3 12461663 12461663 single base substitution G C downstream_gene_variant BRCA-EU 3 12461663 12461663 single base substitution G C intron_variant BRCA-EU 3 12462517 12462517 single base substitution C G downstream_gene_variant BRCA-EU 3 12462517 12462517 single base substitution C G intron_variant BRCA-EU 3 12462619 12462619 single base substitution C G downstream_gene_variant BRCA-EU 3 12462619 12462619 single base substitution C G intron_variant BRCA-EU 3 12463820 12463820 single base substitution T C intron_variant BRCA-EU 3 12465246 12465246 single base substitution C T intron_variant BRCA-EU 3 12465644 12465644 single base substitution G T intron_variant BRCA-EU 3 12466339 12466339 single base substitution C G intron_variant BRCA-EU 3 12467208 12467208 single base substitution C G intron_variant BRCA-EU 3 12467582 12467582 single base substitution G C intron_variant BRCA-EU 3 12467844 12467844 single base substitution C G intron_variant BRCA-EU 3 12469103 12469103 single base substitution G T intron_variant BRCA-EU 3 12469767 12469767 single base substitution A G intron_variant BRCA-EU 3 12469979 12469979 single base substitution C T intron_variant BRCA-EU 3 12470693 12470693 single base substitution G C intron_variant BRCA-EU 3 12471743 12471743 single base substitution G C intron_variant BRCA-EU 3 12473335 12473344 deletion of <=200bp AGGCTAAAGC - intron_variant BRCA-EU 3 12473725 12473725 single base substitution G T intron_variant BRCA-EU 3 12474805 12474805 single base substitution G T intron_variant BRCA-EU 3 12477128 12477128 single base substitution G A downstream_gene_variant BRCA-EU 3 12477154 12477154 single base substitution G C downstream_gene_variant BRCA-EU 3 12477166 12477166 single base substitution G C downstream_gene_variant BRCA-EU 3 12477229 12477229 single base substitution G A downstream_gene_variant BRCA-EU 3 12477627 12477627 single base substitution T C downstream_gene_variant BRCA-EU 3 12477749 12477749 insertion of <=200bp - C downstream_gene_variant BRCA-EU 3 12478426 12478426 single base substitution C T downstream_gene_variant BRCA-EU 3 12478429 12478429 single base substitution G A downstream_gene_variant BRCA-EU 3 12480017 12480017 single base substitution C T downstream_gene_variant BRCA-FR 3 12330402 12330402 single base substitution G C 5_prime_UTR_variant BRCA-FR 3 12330402 12330402 single base substitution G C intron_variant BRCA-FR 3 12330402 12330402 single base substitution G C upstream_gene_variant BRCA-FR 3 12338181 12338181 single base substitution G A intron_variant BRCA-FR 3 12339521 12339521 single base substitution G A intron_variant BRCA-FR 3 12340329 12340329 single base substitution T C intron_variant BRCA-FR 3 12347573 12347573 single base substitution C G intron_variant BRCA-FR 3 12360104 12360104 single base substitution C G intron_variant BRCA-FR 3 12362390 12362390 single base substitution G C intron_variant BRCA-FR 3 12375232 12375232 single base substitution G A intron_variant BRCA-FR 3 12390289 12390289 single base substitution C T intron_variant BRCA-FR 3 12390289 12390289 single base substitution C T upstream_gene_variant BRCA-FR 3 12391873 12391873 single base substitution C T intron_variant BRCA-FR 3 12391873 12391873 single base substitution C T upstream_gene_variant BRCA-FR 3 12407267 12407267 single base substitution T G intron_variant BRCA-FR 3 12425797 12425797 single base substitution G A downstream_gene_variant BRCA-FR 3 12425797 12425797 single base substitution G A intron_variant BRCA-FR 3 12429694 12429694 single base substitution C A intron_variant BRCA-FR 3 12455466 12455466 single base substitution A T intron_variant BRCA-FR 3 12456999 12456999 single base substitution G C intron_variant BRCA-FR 3 12457864 12457864 single base substitution G C intron_variant BRCA-FR 3 12461663 12461663 single base substitution G C downstream_gene_variant BRCA-FR 3 12461663 12461663 single base substitution G C intron_variant BRCA-FR 3 12463086 12463086 single base substitution G C downstream_gene_variant BRCA-FR 3 12463086 12463086 single base substitution G C intron_variant BRCA-FR 3 12469979 12469979 single base substitution C T intron_variant BRCA-FR 3 12473725 12473725 single base substitution G T intron_variant BRCA-FR 3 12474805 12474805 single base substitution G T intron_variant BRCA-FR 3 12477229 12477229 single base substitution G A downstream_gene_variant BRCA-UK 3 12337700 12337700 single base substitution G A intron_variant BRCA-UK 3 12343109 12343109 single base substitution T G intron_variant BRCA-UK 3 12343109 12343109 single base substitution T G upstream_gene_variant BRCA-UK 3 12385291 12385291 single base substitution A T intron_variant BRCA-UK 3 12385629 12385629 single base substitution G A intron_variant BRCA-UK 3 12394665 12394665 single base substitution G A intron_variant BRCA-UK 3 12403172 12403172 single base substitution A G intron_variant BRCA-UK 3 12421410 12421410 single base substitution T G 3_prime_UTR_variant BRCA-UK 3 12421410 12421410 single base substitution T G downstream_gene_variant BRCA-UK 3 12421410 12421410 single base substitution T G exon_variant BRCA-UK 3 12421410 12421410 single base substitution T G missense_variant L67R 200T>G BRCA-UK 3 12421410 12421410 single base substitution T G missense_variant L69R 206T>G BRCA-UK 3 12421410 12421410 single base substitution T G missense_variant L75R 224T>G BRCA-UK 3 12421410 12421410 single base substitution T G missense_variant L97R 290T>G BRCA-UK 3 12458684 12458684 single base substitution G C downstream_gene_variant BRCA-UK 3 12458684 12458684 single base substitution G C intron_variant BRCA-UK 3 12469302 12469302 single base substitution C T intron_variant BRCA-US 3 12421355 12421355 single base substitution G A 3_prime_UTR_variant BRCA-US 3 12421355 12421355 single base substitution G A downstream_gene_variant BRCA-US 3 12421355 12421355 single base substitution G A exon_variant BRCA-US 3 12421355 12421355 single base substitution G A missense_variant E49K 145G>A BRCA-US 3 12421355 12421355 single base substitution G A missense_variant E51K 151G>A BRCA-US 3 12421355 12421355 single base substitution G A missense_variant E57K 169G>A BRCA-US 3 12421355 12421355 single base substitution G A missense_variant E79K 235G>A BRCA-US 3 12434181 12434181 insertion of <=200bp - A 3_prime_UTR_variant BRCA-US 3 12434181 12434181 insertion of <=200bp - A exon_variant BRCA-US 3 12434181 12434181 insertion of <=200bp - A frameshift_variant H153Q? BRCA-US 3 12434181 12434181 insertion of <=200bp - A frameshift_variant H155Q? BRCA-US 3 12434181 12434181 insertion of <=200bp - A frameshift_variant H161Q? BRCA-US 3 12434181 12434181 insertion of <=200bp - A frameshift_variant H183Q? BRCA-US 3 12447485 12447485 single base substitution C G 3_prime_UTR_variant BRCA-US 3 12447485 12447485 single base substitution C G exon_variant BRCA-US 3 12447485 12447485 single base substitution C G missense_variant L212V 634C>G BRCA-US 3 12447485 12447485 single base substitution C G missense_variant L214V 640C>G BRCA-US 3 12447485 12447485 single base substitution C G missense_variant L220V 658C>G BRCA-US 3 12447485 12447485 single base substitution C G missense_variant L242V 724C>G BTCA-JP 3 12421205 12421205 single base substitution A G exon_variant BTCA-JP 3 12421205 12421205 single base substitution A G missense_variant M29V 85A>G BTCA-JP 3 12421205 12421205 single base substitution A G missense_variant M7V 19A>G BTCA-JP 3 12421205 12421205 single base substitution A G splice_region_variant BTCA-JP 3 12421205 12421205 single base substitution A G start_lost M1V 1A>G BTCA-JP 3 12475614 12475614 single base substitution C G 3_prime_UTR_variant BTCA-JP 3 12475614 12475614 single base substitution C G synonymous_variant L468L 1404C>G BTCA-JP 3 12475614 12475614 single base substitution C G synonymous_variant L474L 1422C>G BTCA-JP 3 12475614 12475614 single base substitution C G synonymous_variant L496L 1488C>G CESC-US 3 12421301 12421301 single base substitution G C 3_prime_UTR_variant CESC-US 3 12421301 12421301 single base substitution G C exon_variant CESC-US 3 12421301 12421301 single base substitution G C missense_variant D31H 91G>C CESC-US 3 12421301 12421301 single base substitution G C missense_variant D33H 97G>C CESC-US 3 12421301 12421301 single base substitution G C missense_variant D39H 115G>C CESC-US 3 12421301 12421301 single base substitution G C missense_variant D61H 181G>C CESC-US 3 12458466 12458466 single base substitution G A 3_prime_UTR_variant CESC-US 3 12458466 12458466 single base substitution G A intron_variant CESC-US 3 12458466 12458466 single base substitution G A synonymous_variant L333L 999G>A CESC-US 3 12458466 12458466 single base substitution G A synonymous_variant L339L 1017G>A CESC-US 3 12458466 12458466 single base substitution G A synonymous_variant L361L 1083G>A CLLE-ES 3 12324366 12324366 single base substitution T A upstream_gene_variant CLLE-ES 3 12327052 12327052 single base substitution T A upstream_gene_variant CLLE-ES 3 12327979 12327979 single base substitution A T upstream_gene_variant CLLE-ES 3 12334149 12334149 single base substitution G C intron_variant CLLE-ES 3 12345031 12345031 single base substitution G A intron_variant CLLE-ES 3 12345031 12345031 single base substitution G A upstream_gene_variant CLLE-ES 3 12346461 12346461 single base substitution G C intron_variant CLLE-ES 3 12346461 12346461 single base substitution G C upstream_gene_variant CLLE-ES 3 12357558 12357558 single base substitution C T intron_variant CLLE-ES 3 12373480 12373480 single base substitution G A intron_variant CLLE-ES 3 12375232 12375232 single base substitution G A intron_variant CLLE-ES 3 12375840 12375840 single base substitution G A intron_variant CLLE-ES 3 12380452 12380452 single base substitution A T intron_variant CLLE-ES 3 12386063 12386063 single base substitution G A intron_variant CLLE-ES 3 12398702 12398702 single base substitution G T intron_variant CLLE-ES 3 12410565 12410565 single base substitution C T intron_variant CLLE-ES 3 12415577 12415577 single base substitution A G intron_variant CLLE-ES 3 12429582 12429582 single base substitution A G intron_variant CLLE-ES 3 12434015 12434015 single base substitution C A intron_variant CLLE-ES 3 12452384 12452384 single base substitution T C downstream_gene_variant CLLE-ES 3 12452384 12452384 single base substitution T C intron_variant CLLE-ES 3 12459663 12459663 single base substitution T A downstream_gene_variant CLLE-ES 3 12459663 12459663 single base substitution T A intron_variant CLLE-ES 3 12461703 12461703 single base substitution G T downstream_gene_variant CLLE-ES 3 12461703 12461703 single base substitution G T intron_variant COAD-US 3 12393166 12393166 single base substitution A T exon_variant COAD-US 3 12393166 12393166 single base substitution A T intron_variant COAD-US 3 12393166 12393166 single base substitution A T synonymous_variant I25I 75A>T COAD-US 3 12421423 12421423 single base substitution G A 3_prime_UTR_variant COAD-US 3 12421423 12421423 single base substitution G A downstream_gene_variant COAD-US 3 12421423 12421423 single base substitution G A exon_variant COAD-US 3 12421423 12421423 single base substitution G A synonymous_variant E101E 303G>A COAD-US 3 12421423 12421423 single base substitution G A synonymous_variant E71E 213G>A COAD-US 3 12421423 12421423 single base substitution G A synonymous_variant E73E 219G>A COAD-US 3 12421423 12421423 single base substitution G A synonymous_variant E79E 237G>A COAD-US 3 12475603 12475603 single base substitution C T 3_prime_UTR_variant COAD-US 3 12475603 12475603 single base substitution C T missense_variant L465F 1393C>T COAD-US 3 12475603 12475603 single base substitution C T missense_variant L471F 1411C>T COAD-US 3 12475603 12475603 single base substitution C T missense_variant L493F 1477C>T COCA-CN 3 12421225 12421225 single base substitution G T 3_prime_UTR_variant COCA-CN 3 12421225 12421225 single base substitution G T exon_variant COCA-CN 3 12421225 12421225 single base substitution G T missense_variant E13D 39G>T COCA-CN 3 12421225 12421225 single base substitution G T missense_variant E35D 105G>T COCA-CN 3 12421225 12421225 single base substitution G T missense_variant E5D 15G>T COCA-CN 3 12421225 12421225 single base substitution G T missense_variant E7D 21G>T COCA-CN 3 12421267 12421268 deletion of <=200bp TC - 3_prime_UTR_variant COCA-CN 3 12421267 12421268 deletion of <=200bp TC - exon_variant COCA-CN 3 12421267 12421268 deletion of <=200bp TC - frameshift_variant DL19 COCA-CN 3 12421267 12421268 deletion of <=200bp TC - frameshift_variant DL21 COCA-CN 3 12421267 12421268 deletion of <=200bp TC - frameshift_variant DL27 COCA-CN 3 12421267 12421268 deletion of <=200bp TC - frameshift_variant DL49 COCA-CN 3 12421445 12421445 single base substitution T G downstream_gene_variant COCA-CN 3 12421445 12421445 single base substitution T G intron_variant COCA-CN 3 12433959 12433959 single base substitution G C intron_variant COCA-CN 3 12475587 12475587 single base substitution G A 3_prime_UTR_variant COCA-CN 3 12475587 12475587 single base substitution G A synonymous_variant T459T 1377G>A COCA-CN 3 12475587 12475587 single base substitution G A synonymous_variant T465T 1395G>A COCA-CN 3 12475587 12475587 single base substitution G A synonymous_variant T487T 1461G>A EOPC-DE 3 12348581 12348581 single base substitution T A intron_variant EOPC-DE 3 12351565 12351565 single base substitution G T intron_variant EOPC-DE 3 12351565 12351565 single base substitution G T upstream_gene_variant EOPC-DE 3 12369495 12369495 single base substitution C A intron_variant EOPC-DE 3 12381725 12381725 single base substitution G A intron_variant ESAD-UK 3 12327010 12327010 single base substitution G A upstream_gene_variant ESAD-UK 3 12327187 12327187 single base substitution G A upstream_gene_variant ESAD-UK 3 12331684 12331684 insertion of <=200bp - T intron_variant ESAD-UK 3 12333879 12333879 single base substitution C T intron_variant ESAD-UK 3 12334426 12334426 single base substitution G A intron_variant ESAD-UK 3 12334895 12334895 single base substitution G T intron_variant ESAD-UK 3 12335747 12335747 insertion of <=200bp - T intron_variant ESAD-UK 3 12336912 12336912 single base substitution G C intron_variant ESAD-UK 3 12342391 12342391 single base substitution C T intron_variant ESAD-UK 3 12342391 12342391 single base substitution C T upstream_gene_variant ESAD-UK 3 12344256 12344256 single base substitution A T intron_variant ESAD-UK 3 12344256 12344256 single base substitution A T upstream_gene_variant ESAD-UK 3 12347324 12347324 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 3 12347324 12347324 single base substitution C T intron_variant ESAD-UK 3 12348331 12348331 single base substitution C G intron_variant ESAD-UK 3 12349309 12349309 single base substitution G C intron_variant ESAD-UK 3 12349309 12349309 single base substitution G C upstream_gene_variant ESAD-UK 3 12350088 12350088 single base substitution A G intron_variant ESAD-UK 3 12350088 12350088 single base substitution A G upstream_gene_variant ESAD-UK 3 12350260 12350260 single base substitution G C intron_variant ESAD-UK 3 12350260 12350260 single base substitution G C upstream_gene_variant ESAD-UK 3 12356149 12356149 single base substitution T A intron_variant ESAD-UK 3 12358231 12358231 single base substitution A T intron_variant ESAD-UK 3 12358418 12358418 single base substitution C G intron_variant ESAD-UK 3 12360029 12360029 single base substitution A G intron_variant ESAD-UK 3 12361760 12361760 single base substitution G C intron_variant ESAD-UK 3 12366512 12366512 single base substitution G A intron_variant ESAD-UK 3 12367328 12367328 single base substitution A G intron_variant ESAD-UK 3 12367655 12367655 single base substitution T G intron_variant ESAD-UK 3 12368233 12368233 insertion of <=200bp - T intron_variant ESAD-UK 3 12368233 12368233 single base substitution A T intron_variant ESAD-UK 3 12368235 12368235 single base substitution A T intron_variant ESAD-UK 3 12369621 12369621 single base substitution G T intron_variant ESAD-UK 3 12372876 12372876 single base substitution G A intron_variant ESAD-UK 3 12375391 12375391 single base substitution T C intron_variant ESAD-UK 3 12378577 12378577 single base substitution C T intron_variant ESAD-UK 3 12378630 12378630 single base substitution A G intron_variant ESAD-UK 3 12379065 12379065 single base substitution C A intron_variant ESAD-UK 3 12380189 12380189 single base substitution A T intron_variant ESAD-UK 3 12382327 12382327 single base substitution G C intron_variant ESAD-UK 3 12382350 12382350 single base substitution T C intron_variant ESAD-UK 3 12383759 12383759 single base substitution T A intron_variant ESAD-UK 3 12383760 12383760 single base substitution C A intron_variant ESAD-UK 3 12384791 12384791 single base substitution C T intron_variant ESAD-UK 3 12384792 12384792 single base substitution A T intron_variant ESAD-UK 3 12386861 12386861 single base substitution T G intron_variant ESAD-UK 3 12388219 12388219 single base substitution G A intron_variant ESAD-UK 3 12388219 12388219 single base substitution G A upstream_gene_variant ESAD-UK 3 12388976 12388976 single base substitution T G intron_variant ESAD-UK 3 12388976 12388976 single base substitution T G upstream_gene_variant ESAD-UK 3 12389966 12389966 single base substitution C A intron_variant ESAD-UK 3 12389966 12389966 single base substitution C A upstream_gene_variant ESAD-UK 3 12390030 12390030 single base substitution A G intron_variant ESAD-UK 3 12390030 12390030 single base substitution A G upstream_gene_variant ESAD-UK 3 12393852 12393852 single base substitution A T intron_variant ESAD-UK 3 12396320 12396320 single base substitution C A intron_variant ESAD-UK 3 12397008 12397008 insertion of <=200bp - T intron_variant ESAD-UK 3 12397749 12397749 deletion of <=200bp G - intron_variant ESAD-UK 3 12399128 12399128 single base substitution C G intron_variant ESAD-UK 3 12402241 12402241 single base substitution T C intron_variant ESAD-UK 3 12404927 12404927 single base substitution C T intron_variant ESAD-UK 3 12405869 12405869 single base substitution C A intron_variant ESAD-UK 3 12407677 12407679 deletion of <=200bp ATT - intron_variant ESAD-UK 3 12409975 12409975 single base substitution C A intron_variant ESAD-UK 3 12412032 12412032 insertion of <=200bp - A intron_variant ESAD-UK 3 12412549 12412549 insertion of <=200bp - TAGT intron_variant ESAD-UK 3 12413297 12413297 single base substitution T G intron_variant ESAD-UK 3 12417898 12417898 deletion of <=200bp A - intron_variant ESAD-UK 3 12417898 12417898 deletion of <=200bp A - upstream_gene_variant ESAD-UK 3 12421145 12421145 single base substitution G A intron_variant ESAD-UK 3 12421145 12421145 single base substitution G A upstream_gene_variant ESAD-UK 3 12422929 12422929 single base substitution G A 3_prime_UTR_variant ESAD-UK 3 12422929 12422929 single base substitution G A downstream_gene_variant ESAD-UK 3 12422929 12422929 single base substitution G A exon_variant ESAD-UK 3 12422929 12422929 single base substitution G A missense_variant R110H 329G>A ESAD-UK 3 12422929 12422929 single base substitution G A missense_variant R112H 335G>A ESAD-UK 3 12422929 12422929 single base substitution G A missense_variant R118H 353G>A ESAD-UK 3 12422929 12422929 single base substitution G A missense_variant R140H 419G>A ESAD-UK 3 12423756 12423756 single base substitution C A downstream_gene_variant ESAD-UK 3 12423756 12423756 single base substitution C A intron_variant ESAD-UK 3 12425503 12425503 single base substitution C T downstream_gene_variant ESAD-UK 3 12425503 12425503 single base substitution C T intron_variant ESAD-UK 3 12432855 12432855 single base substitution A G intron_variant ESAD-UK 3 12433423 12433423 single base substitution G A intron_variant ESAD-UK 3 12436911 12436911 single base substitution G A intron_variant ESAD-UK 3 12438678 12438678 single base substitution A T intron_variant ESAD-UK 3 12439178 12439178 single base substitution G C intron_variant ESAD-UK 3 12441819 12441819 single base substitution C T intron_variant ESAD-UK 3 12447199 12447199 single base substitution T G intron_variant ESAD-UK 3 12452998 12452998 single base substitution G A downstream_gene_variant ESAD-UK 3 12452998 12452998 single base substitution G A intron_variant ESAD-UK 3 12468837 12468837 single base substitution G A intron_variant ESAD-UK 3 12469935 12469935 single base substitution G A intron_variant ESAD-UK 3 12470628 12470628 single base substitution A T intron_variant ESAD-UK 3 12471633 12471633 single base substitution C T intron_variant ESAD-UK 3 12476089 12476089 single base substitution G A downstream_gene_variant ESAD-UK 3 12476787 12476787 single base substitution G T downstream_gene_variant ESCA-CN 3 12413666 12413666 single base substitution G T intron_variant ESCA-CN 3 12421279 12421279 single base substitution G A 3_prime_UTR_variant ESCA-CN 3 12421279 12421279 single base substitution G A exon_variant ESCA-CN 3 12421279 12421279 single base substitution G A missense_variant M23I 69G>A ESCA-CN 3 12421279 12421279 single base substitution G A missense_variant M25I 75G>A ESCA-CN 3 12421279 12421279 single base substitution G A missense_variant M31I 93G>A ESCA-CN 3 12421279 12421279 single base substitution G A missense_variant M53I 159G>A ESCA-CN 3 12447548 12447548 single base substitution G A 3_prime_UTR_variant ESCA-CN 3 12447548 12447548 single base substitution G A exon_variant ESCA-CN 3 12447548 12447548 single base substitution G A missense_variant A233T 697G>A ESCA-CN 3 12447548 12447548 single base substitution G A missense_variant A235T 703G>A ESCA-CN 3 12447548 12447548 single base substitution G A missense_variant A241T 721G>A ESCA-CN 3 12447548 12447548 single base substitution G A missense_variant A263T 787G>A GBM-US 3 12447429 12447429 single base substitution C T 3_prime_UTR_variant GBM-US 3 12447429 12447429 single base substitution C T exon_variant GBM-US 3 12447429 12447429 single base substitution C T missense_variant A193V 578C>T GBM-US 3 12447429 12447429 single base substitution C T missense_variant A195V 584C>T GBM-US 3 12447429 12447429 single base substitution C T missense_variant A201V 602C>T GBM-US 3 12447429 12447429 single base substitution C T missense_variant A223V 668C>T KIRC-US 3 12422837 12422837 single base substitution G A 3_prime_UTR_variant KIRC-US 3 12422837 12422837 single base substitution G A downstream_gene_variant KIRC-US 3 12422837 12422837 single base substitution G A exon_variant KIRC-US 3 12422837 12422837 single base substitution G A synonymous_variant E109E 327G>A KIRC-US 3 12422837 12422837 single base substitution G A synonymous_variant E79E 237G>A KIRC-US 3 12422837 12422837 single base substitution G A synonymous_variant E81E 243G>A KIRC-US 3 12422837 12422837 single base substitution G A synonymous_variant E87E 261G>A KIRC-US 3 12434123 12434123 single base substitution G A 3_prime_UTR_variant KIRC-US 3 12434123 12434123 single base substitution G A exon_variant KIRC-US 3 12434123 12434123 single base substitution G A missense_variant R134Q 401G>A KIRC-US 3 12434123 12434123 single base substitution G A missense_variant R136Q 407G>A KIRC-US 3 12434123 12434123 single base substitution G A missense_variant R142Q 425G>A KIRC-US 3 12434123 12434123 single base substitution G A missense_variant R164Q 491G>A KIRP-US 3 12447397 12447397 single base substitution G C 3_prime_UTR_variant KIRP-US 3 12447397 12447397 single base substitution G C exon_variant KIRP-US 3 12447397 12447397 single base substitution G C synonymous_variant R182R 546G>C KIRP-US 3 12447397 12447397 single base substitution G C synonymous_variant R184R 552G>C KIRP-US 3 12447397 12447397 single base substitution G C synonymous_variant R190R 570G>C KIRP-US 3 12447397 12447397 single base substitution G C synonymous_variant R212R 636G>C LAML-KR 3 12384140 12384140 single base substitution T C intron_variant LAML-KR 3 12448719 12448719 single base substitution G C downstream_gene_variant LAML-KR 3 12448719 12448719 single base substitution G C intron_variant LGG-US 3 12421382 12421382 single base substitution C G 3_prime_UTR_variant LGG-US 3 12421382 12421382 single base substitution C G downstream_gene_variant LGG-US 3 12421382 12421382 single base substitution C G exon_variant LGG-US 3 12421382 12421382 single base substitution C G missense_variant P58A 172C>G LGG-US 3 12421382 12421382 single base substitution C G missense_variant P60A 178C>G LGG-US 3 12421382 12421382 single base substitution C G missense_variant P66A 196C>G LGG-US 3 12421382 12421382 single base substitution C G missense_variant P88A 262C>G LGG-US 3 12458613 12458613 single base substitution C T 3_prime_UTR_variant LGG-US 3 12458613 12458613 single base substitution C T intron_variant LGG-US 3 12458613 12458613 single base substitution C T synonymous_variant S382S 1146C>T LGG-US 3 12458613 12458613 single base substitution C T synonymous_variant S388S 1164C>T LGG-US 3 12458613 12458613 single base substitution C T synonymous_variant S410S 1230C>T LICA-FR 3 12347560 12347560 single base substitution A T intron_variant LICA-FR 3 12351938 12351938 single base substitution G T intron_variant LICA-FR 3 12351938 12351938 single base substitution G T upstream_gene_variant LICA-FR 3 12354298 12354298 single base substitution A G intron_variant LICA-FR 3 12390789 12390789 single base substitution T C intron_variant LICA-FR 3 12390789 12390789 single base substitution T C upstream_gene_variant LICA-FR 3 12392346 12392346 single base substitution A C intron_variant LICA-FR 3 12392346 12392346 single base substitution A C upstream_gene_variant LICA-FR 3 12400064 12400064 single base substitution A G intron_variant LICA-FR 3 12422962 12422962 single base substitution A G 3_prime_UTR_variant LICA-FR 3 12422962 12422962 single base substitution A G downstream_gene_variant LICA-FR 3 12422962 12422962 single base substitution A G exon_variant LICA-FR 3 12422962 12422962 single base substitution A G missense_variant Y121C 362A>G LICA-FR 3 12422962 12422962 single base substitution A G missense_variant Y123C 368A>G LICA-FR 3 12422962 12422962 single base substitution A G missense_variant Y129C 386A>G LICA-FR 3 12422962 12422962 single base substitution A G missense_variant Y151C 452A>G LICA-FR 3 12426905 12426905 single base substitution G T downstream_gene_variant LICA-FR 3 12426905 12426905 single base substitution G T intron_variant LICA-FR 3 12448032 12448040 deletion of <=200bp TTTTTTTTT - exon_variant LICA-FR 3 12448032 12448040 deletion of <=200bp TTTTTTTTT - intron_variant LICA-FR 3 12455358 12455358 single base substitution T G intron_variant LICA-FR 3 12475037 12475037 deletion of <=200bp A - intron_variant LINC-JP 3 12353141 12353141 single base substitution T G intron_variant LINC-JP 3 12353141 12353141 single base substitution T G upstream_gene_variant LINC-JP 3 12375262 12375262 single base substitution A G intron_variant LINC-JP 3 12381933 12381933 single base substitution G T intron_variant LINC-JP 3 12387590 12387590 single base substitution C T intron_variant LINC-JP 3 12393768 12393768 single base substitution A T intron_variant LINC-JP 3 12409676 12409676 single base substitution C T intron_variant LINC-JP 3 12413283 12413283 single base substitution T G intron_variant LINC-JP 3 12413284 12413284 single base substitution T A intron_variant LINC-JP 3 12426329 12426329 single base substitution T C downstream_gene_variant LINC-JP 3 12426329 12426329 single base substitution T C intron_variant LINC-JP 3 12426863 12426863 single base substitution C T downstream_gene_variant LINC-JP 3 12426863 12426863 single base substitution C T intron_variant LINC-JP 3 12429820 12429820 single base substitution A T intron_variant LINC-JP 3 12429825 12429825 single base substitution A G intron_variant LINC-JP 3 12447447 12447447 single base substitution T C 3_prime_UTR_variant LINC-JP 3 12447447 12447447 single base substitution T C exon_variant LINC-JP 3 12447447 12447447 single base substitution T C missense_variant I199T 596T>C LINC-JP 3 12447447 12447447 single base substitution T C missense_variant I201T 602T>C LINC-JP 3 12447447 12447447 single base substitution T C missense_variant I207T 620T>C LINC-JP 3 12447447 12447447 single base substitution T C missense_variant I229T 686T>C LINC-JP 3 12450916 12450916 insertion of <=200bp - G downstream_gene_variant LINC-JP 3 12450916 12450916 insertion of <=200bp - G intron_variant LINC-JP 3 12458488 12458488 single base substitution A T 3_prime_UTR_variant LINC-JP 3 12458488 12458488 single base substitution A T intron_variant LINC-JP 3 12458488 12458488 single base substitution A T missense_variant I341L 1021A>T LINC-JP 3 12458488 12458488 single base substitution A T missense_variant I347L 1039A>T LINC-JP 3 12458488 12458488 single base substitution A T missense_variant I369L 1105A>T LINC-JP 3 12469429 12469429 single base substitution T C intron_variant LIRI-JP 3 12326454 12326454 single base substitution G A upstream_gene_variant LIRI-JP 3 12326573 12326573 single base substitution C T upstream_gene_variant LIRI-JP 3 12327492 12327492 single base substitution G A upstream_gene_variant LIRI-JP 3 12327505 12327505 single base substitution G A upstream_gene_variant LIRI-JP 3 12331198 12331198 single base substitution T G intron_variant LIRI-JP 3 12331258 12331258 single base substitution G A intron_variant LIRI-JP 3 12333394 12333394 single base substitution T A intron_variant LIRI-JP 3 12333496 12333496 single base substitution T C intron_variant LIRI-JP 3 12333543 12333543 single base substitution A G intron_variant LIRI-JP 3 12336318 12336318 single base substitution G A intron_variant LIRI-JP 3 12339146 12339146 single base substitution T C intron_variant LIRI-JP 3 12340450 12340450 single base substitution T G intron_variant LIRI-JP 3 12343985 12343985 single base substitution T C intron_variant LIRI-JP 3 12343985 12343985 single base substitution T C upstream_gene_variant LIRI-JP 3 12344110 12344110 single base substitution G A intron_variant LIRI-JP 3 12344110 12344110 single base substitution G A upstream_gene_variant LIRI-JP 3 12344128 12344128 single base substitution G T intron_variant LIRI-JP 3 12344128 12344128 single base substitution G T upstream_gene_variant LIRI-JP 3 12344566 12344566 single base substitution C T intron_variant LIRI-JP 3 12344566 12344566 single base substitution C T upstream_gene_variant LIRI-JP 3 12346033 12346033 single base substitution G A intron_variant LIRI-JP 3 12346033 12346033 single base substitution G A upstream_gene_variant LIRI-JP 3 12347149 12347149 single base substitution A G intron_variant LIRI-JP 3 12347149 12347149 single base substitution A G upstream_gene_variant LIRI-JP 3 12350641 12350641 single base substitution A G intron_variant LIRI-JP 3 12350641 12350641 single base substitution A G upstream_gene_variant LIRI-JP 3 12353918 12353918 single base substitution A G 5_prime_UTR_variant LIRI-JP 3 12353918 12353918 single base substitution A G exon_variant LIRI-JP 3 12353918 12353918 single base substitution A G intron_variant LIRI-JP 3 12354768 12354768 single base substitution A G intron_variant LIRI-JP 3 12357896 12357896 single base substitution A G intron_variant LIRI-JP 3 12358379 12358379 single base substitution T C intron_variant LIRI-JP 3 12358450 12358450 deletion of <=200bp A - intron_variant LIRI-JP 3 12358543 12358544 deletion of <=200bp CA - intron_variant LIRI-JP 3 12362939 12362939 single base substitution A G intron_variant LIRI-JP 3 12363950 12363950 single base substitution A G intron_variant LIRI-JP 3 12364303 12364303 single base substitution G A intron_variant LIRI-JP 3 12364625 12364625 single base substitution T A intron_variant LIRI-JP 3 12365628 12365628 single base substitution A G intron_variant LIRI-JP 3 12366330 12366330 single base substitution A G intron_variant LIRI-JP 3 12366766 12366766 single base substitution A G intron_variant LIRI-JP 3 12367353 12367353 single base substitution A T intron_variant LIRI-JP 3 12368558 12368558 single base substitution G T intron_variant LIRI-JP 3 12371193 12371193 single base substitution C T intron_variant LIRI-JP 3 12372176 12372176 single base substitution A G intron_variant LIRI-JP 3 12376851 12376852 deletion of <=200bp CT - intron_variant LIRI-JP 3 12378402 12378402 single base substitution A G intron_variant LIRI-JP 3 12379011 12379011 single base substitution A G intron_variant LIRI-JP 3 12379553 12379553 single base substitution A T intron_variant LIRI-JP 3 12385774 12385774 single base substitution G A intron_variant LIRI-JP 3 12386846 12386846 single base substitution A G intron_variant LIRI-JP 3 12387389 12387389 single base substitution T G intron_variant LIRI-JP 3 12390016 12390016 single base substitution A C intron_variant LIRI-JP 3 12390016 12390016 single base substitution A C upstream_gene_variant LIRI-JP 3 12392622 12392622 single base substitution A G intron_variant LIRI-JP 3 12392622 12392622 single base substitution A G upstream_gene_variant LIRI-JP 3 12392997 12392997 single base substitution T C 5_prime_UTR_variant LIRI-JP 3 12392997 12392997 single base substitution T C exon_variant LIRI-JP 3 12392997 12392997 single base substitution T C intron_variant LIRI-JP 3 12392997 12392997 single base substitution T C upstream_gene_variant LIRI-JP 3 12393498 12393498 single base substitution A C intron_variant LIRI-JP 3 12393742 12393742 single base substitution A G intron_variant LIRI-JP 3 12395388 12395388 single base substitution G A intron_variant LIRI-JP 3 12396668 12396668 single base substitution G A intron_variant LIRI-JP 3 12396886 12396886 single base substitution C T intron_variant LIRI-JP 3 12397714 12397714 single base substitution T G intron_variant LIRI-JP 3 12398640 12398640 single base substitution C T intron_variant LIRI-JP 3 12399034 12399034 single base substitution C T intron_variant LIRI-JP 3 12404279 12404279 single base substitution G A intron_variant LIRI-JP 3 12405631 12405631 single base substitution T C intron_variant LIRI-JP 3 12406611 12406611 single base substitution A C intron_variant LIRI-JP 3 12407594 12407594 single base substitution C T intron_variant LIRI-JP 3 12409119 12409119 single base substitution G T intron_variant LIRI-JP 3 12412915 12412915 single base substitution A G intron_variant LIRI-JP 3 12416675 12416675 single base substitution C T intron_variant LIRI-JP 3 12416675 12416675 single base substitution C T upstream_gene_variant LIRI-JP 3 12419001 12419001 single base substitution A T intron_variant LIRI-JP 3 12419001 12419001 single base substitution A T upstream_gene_variant LIRI-JP 3 12419565 12419565 single base substitution A G intron_variant LIRI-JP 3 12419565 12419565 single base substitution A G upstream_gene_variant LIRI-JP 3 12421160 12421160 single base substitution T C intron_variant LIRI-JP 3 12421160 12421160 single base substitution T C upstream_gene_variant LIRI-JP 3 12424598 12424598 single base substitution G C downstream_gene_variant LIRI-JP 3 12424598 12424598 single base substitution G C intron_variant LIRI-JP 3 12425666 12425666 single base substitution A C downstream_gene_variant LIRI-JP 3 12425666 12425666 single base substitution A C intron_variant LIRI-JP 3 12426344 12426344 single base substitution A G downstream_gene_variant LIRI-JP 3 12426344 12426344 single base substitution A G intron_variant LIRI-JP 3 12426938 12426938 single base substitution A G downstream_gene_variant LIRI-JP 3 12426938 12426938 single base substitution A G intron_variant LIRI-JP 3 12429244 12429244 single base substitution G C intron_variant LIRI-JP 3 12429419 12429420 deletion of <=200bp TC - intron_variant LIRI-JP 3 12430500 12430500 single base substitution A G intron_variant LIRI-JP 3 12435605 12435605 single base substitution T C intron_variant LIRI-JP 3 12436320 12436320 single base substitution A G intron_variant LIRI-JP 3 12440737 12440737 single base substitution A G intron_variant LIRI-JP 3 12443035 12443035 single base substitution G A intron_variant LIRI-JP 3 12444242 12444242 single base substitution A G intron_variant LIRI-JP 3 12448100 12448100 single base substitution A G exon_variant LIRI-JP 3 12448100 12448100 single base substitution A G intron_variant LIRI-JP 3 12448474 12448474 single base substitution T C downstream_gene_variant LIRI-JP 3 12448474 12448474 single base substitution T C intron_variant LIRI-JP 3 12448540 12448540 single base substitution G C downstream_gene_variant LIRI-JP 3 12448540 12448540 single base substitution G C intron_variant LIRI-JP 3 12449726 12449726 single base substitution A G downstream_gene_variant LIRI-JP 3 12449726 12449726 single base substitution A G intron_variant LIRI-JP 3 12452929 12452929 single base substitution A G downstream_gene_variant LIRI-JP 3 12452929 12452929 single base substitution A G intron_variant LIRI-JP 3 12453211 12453211 single base substitution A G downstream_gene_variant LIRI-JP 3 12453211 12453211 single base substitution A G intron_variant LIRI-JP 3 12456537 12456537 single base substitution T A intron_variant LIRI-JP 3 12457883 12457883 single base substitution A G intron_variant LIRI-JP 3 12458476 12458476 single base substitution G A 3_prime_UTR_variant LIRI-JP 3 12458476 12458476 single base substitution G A intron_variant LIRI-JP 3 12458476 12458476 single base substitution G A missense_variant D337N 1009G>A LIRI-JP 3 12458476 12458476 single base substitution G A missense_variant D343N 1027G>A LIRI-JP 3 12458476 12458476 single base substitution G A missense_variant D365N 1093G>A LIRI-JP 3 12459707 12459707 single base substitution A G downstream_gene_variant LIRI-JP 3 12459707 12459707 single base substitution A G intron_variant LIRI-JP 3 12459945 12459945 deletion of <=200bp G - downstream_gene_variant LIRI-JP 3 12459945 12459945 deletion of <=200bp G - intron_variant LIRI-JP 3 12460531 12460531 single base substitution C A downstream_gene_variant LIRI-JP 3 12460531 12460531 single base substitution C A intron_variant LIRI-JP 3 12462067 12462067 single base substitution C T downstream_gene_variant LIRI-JP 3 12462067 12462067 single base substitution C T intron_variant LIRI-JP 3 12462787 12462787 single base substitution C G downstream_gene_variant LIRI-JP 3 12462787 12462787 single base substitution C G intron_variant LIRI-JP 3 12462802 12462802 single base substitution T C downstream_gene_variant LIRI-JP 3 12462802 12462802 single base substitution T C intron_variant LIRI-JP 3 12462811 12462811 single base substitution A G downstream_gene_variant LIRI-JP 3 12462811 12462811 single base substitution A G intron_variant LIRI-JP 3 12465180 12465186 deletion of <=200bp AAATACT - intron_variant LIRI-JP 3 12467745 12467745 single base substitution A G intron_variant LIRI-JP 3 12469925 12469925 deletion of <=200bp C - intron_variant LIRI-JP 3 12470763 12470763 single base substitution C T intron_variant LIRI-JP 3 12473374 12473374 single base substitution G A intron_variant LIRI-JP 3 12478487 12478487 single base substitution C T downstream_gene_variant LIRI-JP 3 12480675 12480675 single base substitution A G downstream_gene_variant LUSC-KR 3 12325656 12325656 single base substitution G A upstream_gene_variant LUSC-KR 3 12326416 12326416 single base substitution C G upstream_gene_variant LUSC-KR 3 12328768 12328768 single base substitution C T upstream_gene_variant LUSC-KR 3 12331216 12331216 single base substitution A C intron_variant LUSC-KR 3 12342865 12342865 single base substitution C T intron_variant LUSC-KR 3 12342865 12342865 single base substitution C T upstream_gene_variant LUSC-KR 3 12349959 12349959 single base substitution G C intron_variant LUSC-KR 3 12349959 12349959 single base substitution G C upstream_gene_variant LUSC-KR 3 12352024 12352024 single base substitution G T intron_variant LUSC-KR 3 12352024 12352024 single base substitution G T upstream_gene_variant LUSC-KR 3 12366877 12366877 single base substitution G T intron_variant LUSC-KR 3 12367099 12367099 single base substitution C G intron_variant LUSC-KR 3 12369135 12369135 single base substitution C G intron_variant LUSC-KR 3 12376022 12376022 single base substitution G T intron_variant LUSC-KR 3 12386520 12386520 single base substitution G C intron_variant LUSC-KR 3 12388632 12388632 single base substitution G T intron_variant LUSC-KR 3 12388632 12388632 single base substitution G T upstream_gene_variant LUSC-KR 3 12396746 12396746 single base substitution C T intron_variant LUSC-KR 3 12427035 12427035 single base substitution A G downstream_gene_variant LUSC-KR 3 12427035 12427035 single base substitution A G intron_variant LUSC-KR 3 12434669 12434669 single base substitution T A intron_variant LUSC-KR 3 12446564 12446564 single base substitution G T intron_variant LUSC-KR 3 12447881 12447881 single base substitution G A exon_variant LUSC-KR 3 12447881 12447881 single base substitution G A intron_variant LUSC-KR 3 12449749 12449749 single base substitution C T downstream_gene_variant LUSC-KR 3 12449749 12449749 single base substitution C T intron_variant LUSC-KR 3 12450467 12450467 single base substitution G C downstream_gene_variant LUSC-KR 3 12450467 12450467 single base substitution G C intron_variant LUSC-KR 3 12458404 12458404 single base substitution G T 3_prime_UTR_variant LUSC-KR 3 12458404 12458404 single base substitution G T intron_variant LUSC-KR 3 12458404 12458404 single base substitution G T missense_variant D313Y 937G>T LUSC-KR 3 12458404 12458404 single base substitution G T missense_variant D319Y 955G>T LUSC-KR 3 12458404 12458404 single base substitution G T missense_variant D341Y 1021G>T LUSC-KR 3 12474465 12474465 single base substitution C T intron_variant LUSC-KR 3 12478843 12478843 single base substitution C A downstream_gene_variant LUSC-KR 3 12479656 12479656 single base substitution A G downstream_gene_variant MALY-DE 3 12328921 12328921 single base substitution A G 5_prime_UTR_variant MALY-DE 3 12328921 12328921 single base substitution A G upstream_gene_variant MALY-DE 3 12330722 12330722 deletion of <=200bp T - intron_variant MALY-DE 3 12339902 12339903 deletion of <=200bp AC - intron_variant MALY-DE 3 12339954 12339954 single base substitution A T intron_variant MALY-DE 3 12346281 12346281 single base substitution G A intron_variant MALY-DE 3 12346281 12346281 single base substitution G A upstream_gene_variant MALY-DE 3 12346685 12346685 single base substitution C T intron_variant MALY-DE 3 12346685 12346685 single base substitution C T upstream_gene_variant MALY-DE 3 12352487 12352487 single base substitution G A intron_variant MALY-DE 3 12352487 12352487 single base substitution G A upstream_gene_variant MALY-DE 3 12357894 12357894 single base substitution G A intron_variant MALY-DE 3 12365916 12365916 single base substitution A C intron_variant MALY-DE 3 12367835 12367835 single base substitution C T intron_variant MALY-DE 3 12371713 12371713 single base substitution C G intron_variant MALY-DE 3 12375500 12375500 single base substitution C A intron_variant MALY-DE 3 12376515 12376515 single base substitution T G intron_variant MALY-DE 3 12379684 12379684 single base substitution C T intron_variant MALY-DE 3 12385304 12385304 single base substitution T G intron_variant MALY-DE 3 12387007 12387007 single base substitution T C intron_variant MALY-DE 3 12393323 12393323 single base substitution C T intron_variant MALY-DE 3 12397174 12397174 single base substitution A G intron_variant MALY-DE 3 12399075 12399075 single base substitution G A intron_variant MALY-DE 3 12400352 12400352 single base substitution C T intron_variant MALY-DE 3 12407831 12407831 deletion of <=200bp T - intron_variant MALY-DE 3 12408025 12408025 single base substitution T A intron_variant MALY-DE 3 12408275 12408275 single base substitution T C intron_variant MALY-DE 3 12415072 12415072 single base substitution T C intron_variant MALY-DE 3 12415162 12415162 deletion of <=200bp A - intron_variant MALY-DE 3 12416745 12416746 deletion of <=200bp GA - intron_variant MALY-DE 3 12416745 12416746 deletion of <=200bp GA - upstream_gene_variant MALY-DE 3 12423692 12423692 single base substitution A G downstream_gene_variant MALY-DE 3 12423692 12423692 single base substitution A G intron_variant MALY-DE 3 12423802 12423802 single base substitution G A downstream_gene_variant MALY-DE 3 12423802 12423802 single base substitution G A intron_variant MALY-DE 3 12424474 12424474 insertion of <=200bp - AAAT downstream_gene_variant MALY-DE 3 12424474 12424474 insertion of <=200bp - AAAT intron_variant MALY-DE 3 12430487 12430487 single base substitution A T intron_variant MALY-DE 3 12434218 12434218 single base substitution C A 3_prime_UTR_variant MALY-DE 3 12434218 12434218 single base substitution C A exon_variant MALY-DE 3 12434218 12434218 single base substitution C A missense_variant Q166K 496C>A MALY-DE 3 12434218 12434218 single base substitution C A missense_variant Q168K 502C>A MALY-DE 3 12434218 12434218 single base substitution C A missense_variant Q174K 520C>A MALY-DE 3 12434218 12434218 single base substitution C A missense_variant Q196K 586C>A MALY-DE 3 12435302 12435302 single base substitution T G intron_variant MALY-DE 3 12445506 12445506 single base substitution C A intron_variant MALY-DE 3 12446961 12446961 single base substitution G A intron_variant MALY-DE 3 12448906 12448906 single base substitution C T downstream_gene_variant MALY-DE 3 12448906 12448906 single base substitution C T intron_variant MALY-DE 3 12450662 12450662 single base substitution T C downstream_gene_variant MALY-DE 3 12450662 12450662 single base substitution T C intron_variant MALY-DE 3 12455563 12455563 single base substitution G A intron_variant MALY-DE 3 12466767 12466767 single base substitution C A intron_variant MALY-DE 3 12471880 12471880 insertion of <=200bp - G intron_variant MALY-DE 3 12472278 12472278 single base substitution G A intron_variant MALY-DE 3 12477832 12477832 deletion of <=200bp T - downstream_gene_variant MELA-AU 3 12324024 12324024 single base substitution T A upstream_gene_variant MELA-AU 3 12324080 12324080 single base substitution G T upstream_gene_variant MELA-AU 3 12324113 12324113 single base substitution C T upstream_gene_variant MELA-AU 3 12324250 12324250 single base substitution A T upstream_gene_variant MELA-AU 3 12324417 12324417 single base substitution A C upstream_gene_variant MELA-AU 3 12324494 12324494 single base substitution G A upstream_gene_variant MELA-AU 3 12324557 12324557 single base substitution G A upstream_gene_variant MELA-AU 3 12324744 12324744 single base substitution G A upstream_gene_variant MELA-AU 3 12324749 12324749 single base substitution G A upstream_gene_variant MELA-AU 3 12324983 12324983 single base substitution C T upstream_gene_variant MELA-AU 3 12325814 12325814 single base substitution G A upstream_gene_variant MELA-AU 3 12325910 12325910 single base substitution G A upstream_gene_variant MELA-AU 3 12326177 12326177 single base substitution C T upstream_gene_variant MELA-AU 3 12326507 12326507 single base substitution G A upstream_gene_variant MELA-AU 3 12326520 12326520 single base substitution A T upstream_gene_variant MELA-AU 3 12326672 12326672 single base substitution G A upstream_gene_variant MELA-AU 3 12326688 12326688 single base substitution G A upstream_gene_variant MELA-AU 3 12326779 12326779 single base substitution A T upstream_gene_variant MELA-AU 3 12326871 12326871 single base substitution C T upstream_gene_variant MELA-AU 3 12327054 12327054 single base substitution C T upstream_gene_variant MELA-AU 3 12327187 12327187 single base substitution G A upstream_gene_variant MELA-AU 3 12327404 12327404 single base substitution C T upstream_gene_variant MELA-AU 3 12327523 12327523 single base substitution G A upstream_gene_variant MELA-AU 3 12327531 12327531 single base substitution G A upstream_gene_variant MELA-AU 3 12327777 12327777 single base substitution A T upstream_gene_variant MELA-AU 3 12328030 12328030 single base substitution C T upstream_gene_variant MELA-AU 3 12328130 12328130 single base substitution G A upstream_gene_variant MELA-AU 3 12328174 12328174 single base substitution A C upstream_gene_variant MELA-AU 3 12328279 12328279 single base substitution C T upstream_gene_variant MELA-AU 3 12328526 12328527 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 12328744 12328744 single base substitution C T upstream_gene_variant MELA-AU 3 12330038 12330038 single base substitution G A intron_variant MELA-AU 3 12330038 12330038 single base substitution G A upstream_gene_variant MELA-AU 3 12330247 12330247 single base substitution G A intron_variant MELA-AU 3 12330247 12330247 single base substitution G A upstream_gene_variant MELA-AU 3 12330563 12330563 single base substitution G A 5_prime_UTR_variant MELA-AU 3 12330563 12330563 single base substitution G A intron_variant MELA-AU 3 12330563 12330563 single base substitution G A upstream_gene_variant MELA-AU 3 12330633 12330633 single base substitution G A intron_variant MELA-AU 3 12330633 12330633 single base substitution G A splice_region_variant MELA-AU 3 12330685 12330685 single base substitution C T intron_variant MELA-AU 3 12331177 12331177 single base substitution C T intron_variant MELA-AU 3 12331231 12331231 single base substitution G A intron_variant MELA-AU 3 12331460 12331460 single base substitution C G intron_variant MELA-AU 3 12331813 12331813 single base substitution G A intron_variant MELA-AU 3 12332515 12332515 single base substitution C T intron_variant MELA-AU 3 12332813 12332813 single base substitution G A intron_variant MELA-AU 3 12333583 12333583 single base substitution G A intron_variant MELA-AU 3 12333688 12333688 single base substitution C T intron_variant MELA-AU 3 12333712 12333712 single base substitution G A intron_variant MELA-AU 3 12333866 12333866 single base substitution C T intron_variant MELA-AU 3 12334504 12334504 single base substitution C T intron_variant MELA-AU 3 12334535 12334535 single base substitution C T intron_variant MELA-AU 3 12334620 12334620 single base substitution G A intron_variant MELA-AU 3 12334792 12334792 single base substitution C T intron_variant MELA-AU 3 12334976 12334976 single base substitution C T intron_variant MELA-AU 3 12335046 12335046 single base substitution G A intron_variant MELA-AU 3 12335352 12335353 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 12335438 12335438 single base substitution G A intron_variant MELA-AU 3 12335529 12335529 single base substitution G A intron_variant MELA-AU 3 12335560 12335560 single base substitution C T intron_variant MELA-AU 3 12335904 12335904 single base substitution C T intron_variant MELA-AU 3 12336148 12336148 single base substitution C T intron_variant MELA-AU 3 12336154 12336154 single base substitution G A intron_variant MELA-AU 3 12336162 12336162 single base substitution G A intron_variant MELA-AU 3 12336346 12336346 single base substitution C T intron_variant MELA-AU 3 12336367 12336367 single base substitution G A intron_variant MELA-AU 3 12336384 12336384 single base substitution C T intron_variant MELA-AU 3 12336947 12336947 single base substitution C T intron_variant MELA-AU 3 12337088 12337088 single base substitution C T intron_variant MELA-AU 3 12337103 12337103 single base substitution C T intron_variant MELA-AU 3 12337135 12337135 single base substitution C T intron_variant MELA-AU 3 12337146 12337146 single base substitution G A intron_variant MELA-AU 3 12337234 12337234 single base substitution G A intron_variant MELA-AU 3 12337316 12337316 single base substitution G A intron_variant MELA-AU 3 12337507 12337507 single base substitution T C intron_variant MELA-AU 3 12338298 12338298 single base substitution G A intron_variant MELA-AU 3 12338463 12338463 single base substitution G A intron_variant MELA-AU 3 12338633 12338633 single base substitution G A intron_variant MELA-AU 3 12338910 12338910 single base substitution C T intron_variant MELA-AU 3 12338912 12338912 single base substitution C T intron_variant MELA-AU 3 12339021 12339021 single base substitution G A intron_variant MELA-AU 3 12339186 12339186 single base substitution G A intron_variant MELA-AU 3 12339271 12339271 single base substitution C T intron_variant MELA-AU 3 12339279 12339279 single base substitution C T intron_variant MELA-AU 3 12339471 12339471 single base substitution C T intron_variant MELA-AU 3 12339962 12339962 single base substitution T G intron_variant MELA-AU 3 12339974 12339974 single base substitution C T intron_variant MELA-AU 3 12340068 12340068 single base substitution G A intron_variant MELA-AU 3 12340092 12340093 multiple base substitution (>=2bp and <=200bp) AA GT intron_variant MELA-AU 3 12340180 12340180 single base substitution G A intron_variant MELA-AU 3 12340469 12340469 single base substitution G A intron_variant MELA-AU 3 12340825 12340825 single base substitution G A intron_variant MELA-AU 3 12341024 12341024 single base substitution C T intron_variant MELA-AU 3 12341510 12341510 single base substitution C T intron_variant MELA-AU 3 12341698 12341698 single base substitution C T intron_variant MELA-AU 3 12341821 12341821 single base substitution G A intron_variant MELA-AU 3 12341985 12341985 single base substitution T A intron_variant MELA-AU 3 12342098 12342099 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 12342099 12342099 single base substitution G A intron_variant MELA-AU 3 12342193 12342193 single base substitution G A intron_variant MELA-AU 3 12342276 12342276 single base substitution C T intron_variant MELA-AU 3 12342276 12342276 single base substitution C T upstream_gene_variant MELA-AU 3 12342302 12342302 single base substitution C T intron_variant MELA-AU 3 12342302 12342302 single base substitution C T upstream_gene_variant MELA-AU 3 12342374 12342374 single base substitution C T intron_variant MELA-AU 3 12342374 12342374 single base substitution C T upstream_gene_variant MELA-AU 3 12342423 12342423 single base substitution G A intron_variant MELA-AU 3 12342423 12342423 single base substitution G A upstream_gene_variant MELA-AU 3 12342436 12342436 single base substitution G A intron_variant MELA-AU 3 12342436 12342436 single base substitution G A upstream_gene_variant MELA-AU 3 12342471 12342471 single base substitution G A intron_variant MELA-AU 3 12342471 12342471 single base substitution G A upstream_gene_variant MELA-AU 3 12342627 12342627 single base substitution G A intron_variant MELA-AU 3 12342627 12342627 single base substitution G A upstream_gene_variant MELA-AU 3 12342921 12342921 single base substitution T G intron_variant MELA-AU 3 12342921 12342921 single base substitution T G upstream_gene_variant MELA-AU 3 12343134 12343134 single base substitution G A intron_variant MELA-AU 3 12343134 12343134 single base substitution G A upstream_gene_variant MELA-AU 3 12343157 12343157 single base substitution G A intron_variant MELA-AU 3 12343157 12343157 single base substitution G A upstream_gene_variant MELA-AU 3 12343216 12343216 single base substitution G T intron_variant MELA-AU 3 12343216 12343216 single base substitution G T upstream_gene_variant MELA-AU 3 12343520 12343520 single base substitution G A intron_variant MELA-AU 3 12343520 12343520 single base substitution G A upstream_gene_variant MELA-AU 3 12343724 12343724 single base substitution G A intron_variant MELA-AU 3 12343724 12343724 single base substitution G A upstream_gene_variant MELA-AU 3 12343895 12343895 single base substitution C T intron_variant MELA-AU 3 12343895 12343895 single base substitution C T upstream_gene_variant MELA-AU 3 12344155 12344155 single base substitution G A intron_variant MELA-AU 3 12344155 12344155 single base substitution G A upstream_gene_variant MELA-AU 3 12344232 12344232 single base substitution T G intron_variant MELA-AU 3 12344232 12344232 single base substitution T G upstream_gene_variant MELA-AU 3 12344276 12344276 single base substitution C G intron_variant MELA-AU 3 12344276 12344276 single base substitution C G upstream_gene_variant MELA-AU 3 12344276 12344276 single base substitution C T intron_variant MELA-AU 3 12344276 12344276 single base substitution C T upstream_gene_variant MELA-AU 3 12344294 12344294 single base substitution G A intron_variant MELA-AU 3 12344294 12344294 single base substitution G A upstream_gene_variant MELA-AU 3 12344423 12344423 single base substitution G A intron_variant MELA-AU 3 12344423 12344423 single base substitution G A upstream_gene_variant MELA-AU 3 12344478 12344478 single base substitution C T intron_variant MELA-AU 3 12344478 12344478 single base substitution C T upstream_gene_variant MELA-AU 3 12344917 12344917 single base substitution T A intron_variant MELA-AU 3 12344917 12344917 single base substitution T A upstream_gene_variant MELA-AU 3 12344919 12344919 single base substitution C T intron_variant MELA-AU 3 12344919 12344919 single base substitution C T upstream_gene_variant MELA-AU 3 12344968 12344968 single base substitution G A intron_variant MELA-AU 3 12344968 12344968 single base substitution G A upstream_gene_variant MELA-AU 3 12345091 12345091 single base substitution C T intron_variant MELA-AU 3 12345091 12345091 single base substitution C T upstream_gene_variant MELA-AU 3 12345368 12345368 single base substitution C T intron_variant MELA-AU 3 12345368 12345368 single base substitution C T upstream_gene_variant MELA-AU 3 12345874 12345874 single base substitution C T intron_variant MELA-AU 3 12345874 12345874 single base substitution C T upstream_gene_variant MELA-AU 3 12345949 12345949 single base substitution G A intron_variant MELA-AU 3 12345949 12345949 single base substitution G A upstream_gene_variant MELA-AU 3 12346255 12346255 single base substitution G A intron_variant MELA-AU 3 12346255 12346255 single base substitution G A upstream_gene_variant MELA-AU 3 12346517 12346517 single base substitution C T intron_variant MELA-AU 3 12346517 12346517 single base substitution C T upstream_gene_variant MELA-AU 3 12346521 12346521 single base substitution C T intron_variant MELA-AU 3 12346521 12346521 single base substitution C T upstream_gene_variant MELA-AU 3 12346606 12346606 single base substitution C T intron_variant MELA-AU 3 12346606 12346606 single base substitution C T upstream_gene_variant MELA-AU 3 12346637 12346637 single base substitution C G intron_variant MELA-AU 3 12346637 12346637 single base substitution C G upstream_gene_variant MELA-AU 3 12346681 12346681 single base substitution C T intron_variant MELA-AU 3 12346681 12346681 single base substitution C T upstream_gene_variant MELA-AU 3 12346783 12346783 single base substitution G A intron_variant MELA-AU 3 12346783 12346783 single base substitution G A upstream_gene_variant MELA-AU 3 12346921 12346921 single base substitution G A intron_variant MELA-AU 3 12346921 12346921 single base substitution G A upstream_gene_variant MELA-AU 3 12346925 12346925 single base substitution G A intron_variant MELA-AU 3 12346925 12346925 single base substitution G A upstream_gene_variant MELA-AU 3 12347076 12347076 single base substitution C T intron_variant MELA-AU 3 12347076 12347076 single base substitution C T upstream_gene_variant MELA-AU 3 12348049 12348049 single base substitution C T intron_variant MELA-AU 3 12348114 12348114 single base substitution C T intron_variant MELA-AU 3 12348289 12348289 single base substitution A G intron_variant MELA-AU 3 12348380 12348380 single base substitution G A intron_variant MELA-AU 3 12348388 12348388 single base substitution G A intron_variant MELA-AU 3 12348393 12348393 single base substitution C T intron_variant MELA-AU 3 12348703 12348703 single base substitution G A intron_variant MELA-AU 3 12348756 12348756 single base substitution G A intron_variant MELA-AU 3 12348833 12348833 single base substitution C T intron_variant MELA-AU 3 12349096 12349096 single base substitution C T intron_variant MELA-AU 3 12349096 12349096 single base substitution C T upstream_gene_variant MELA-AU 3 12349249 12349249 single base substitution T A intron_variant MELA-AU 3 12349249 12349249 single base substitution T A upstream_gene_variant MELA-AU 3 12349476 12349476 single base substitution G A intron_variant MELA-AU 3 12349476 12349476 single base substitution G A upstream_gene_variant MELA-AU 3 12349478 12349478 single base substitution T G intron_variant MELA-AU 3 12349478 12349478 single base substitution T G upstream_gene_variant MELA-AU 3 12349485 12349485 single base substitution C T intron_variant MELA-AU 3 12349485 12349485 single base substitution C T upstream_gene_variant MELA-AU 3 12349547 12349547 single base substitution G A intron_variant MELA-AU 3 12349547 12349547 single base substitution G A upstream_gene_variant MELA-AU 3 12349688 12349688 single base substitution G A intron_variant MELA-AU 3 12349688 12349688 single base substitution G A upstream_gene_variant MELA-AU 3 12350010 12350010 single base substitution C T intron_variant MELA-AU 3 12350010 12350010 single base substitution C T upstream_gene_variant MELA-AU 3 12350260 12350260 single base substitution G A intron_variant MELA-AU 3 12350260 12350260 single base substitution G A upstream_gene_variant MELA-AU 3 12350373 12350373 single base substitution G A intron_variant MELA-AU 3 12350373 12350373 single base substitution G A upstream_gene_variant MELA-AU 3 12350441 12350441 single base substitution C T intron_variant MELA-AU 3 12350441 12350441 single base substitution C T upstream_gene_variant MELA-AU 3 12350472 12350472 single base substitution G A intron_variant MELA-AU 3 12350472 12350472 single base substitution G A upstream_gene_variant MELA-AU 3 12350736 12350736 single base substitution C T intron_variant MELA-AU 3 12350736 12350736 single base substitution C T upstream_gene_variant MELA-AU 3 12350750 12350750 single base substitution G A intron_variant MELA-AU 3 12350750 12350750 single base substitution G A upstream_gene_variant MELA-AU 3 12350799 12350799 single base substitution C T intron_variant MELA-AU 3 12350799 12350799 single base substitution C T upstream_gene_variant MELA-AU 3 12350872 12350872 single base substitution C T intron_variant MELA-AU 3 12350872 12350872 single base substitution C T upstream_gene_variant MELA-AU 3 12350873 12350873 single base substitution C T intron_variant MELA-AU 3 12350873 12350873 single base substitution C T upstream_gene_variant MELA-AU 3 12350993 12350993 single base substitution G A intron_variant MELA-AU 3 12350993 12350993 single base substitution G A upstream_gene_variant MELA-AU 3 12351339 12351339 single base substitution G A intron_variant MELA-AU 3 12351339 12351339 single base substitution G A upstream_gene_variant MELA-AU 3 12351416 12351416 single base substitution G A intron_variant MELA-AU 3 12351416 12351416 single base substitution G A upstream_gene_variant MELA-AU 3 12351623 12351623 single base substitution G A intron_variant MELA-AU 3 12351623 12351623 single base substitution G A upstream_gene_variant MELA-AU 3 12351821 12351821 single base substitution G A intron_variant MELA-AU 3 12351821 12351821 single base substitution G A upstream_gene_variant MELA-AU 3 12352401 12352401 single base substitution C T intron_variant MELA-AU 3 12352401 12352401 single base substitution C T upstream_gene_variant MELA-AU 3 12352419 12352419 single base substitution C T intron_variant MELA-AU 3 12352419 12352419 single base substitution C T upstream_gene_variant MELA-AU 3 12352794 12352794 single base substitution G A intron_variant MELA-AU 3 12352794 12352794 single base substitution G A upstream_gene_variant MELA-AU 3 12353136 12353136 single base substitution C T intron_variant MELA-AU 3 12353136 12353136 single base substitution C T upstream_gene_variant MELA-AU 3 12353438 12353438 single base substitution C T intron_variant MELA-AU 3 12353438 12353438 single base substitution C T upstream_gene_variant MELA-AU 3 12353789 12353789 single base substitution T A intron_variant MELA-AU 3 12353789 12353789 single base substitution T A upstream_gene_variant MELA-AU 3 12354046 12354046 single base substitution C T intron_variant MELA-AU 3 12354323 12354323 single base substitution C T intron_variant MELA-AU 3 12354432 12354432 single base substitution T C intron_variant MELA-AU 3 12354531 12354531 single base substitution C T intron_variant MELA-AU 3 12354573 12354573 single base substitution C T intron_variant MELA-AU 3 12354602 12354602 single base substitution C T intron_variant MELA-AU 3 12354700 12354700 single base substitution G A intron_variant MELA-AU 3 12354858 12354858 single base substitution C T intron_variant MELA-AU 3 12355053 12355053 single base substitution C T intron_variant MELA-AU 3 12355415 12355415 single base substitution G A intron_variant MELA-AU 3 12355905 12355905 single base substitution G A intron_variant MELA-AU 3 12356158 12356158 single base substitution G A intron_variant MELA-AU 3 12356253 12356253 single base substitution G A intron_variant MELA-AU 3 12356285 12356285 single base substitution T G intron_variant MELA-AU 3 12356343 12356343 single base substitution T C intron_variant MELA-AU 3 12356776 12356776 single base substitution C T intron_variant MELA-AU 3 12356839 12356839 single base substitution C T intron_variant MELA-AU 3 12356947 12356947 single base substitution G A intron_variant MELA-AU 3 12357028 12357028 single base substitution A C intron_variant MELA-AU 3 12357066 12357066 single base substitution C T intron_variant MELA-AU 3 12357410 12357410 single base substitution A G intron_variant MELA-AU 3 12357412 12357412 single base substitution C T intron_variant MELA-AU 3 12357461 12357461 single base substitution C T intron_variant MELA-AU 3 12357893 12357893 single base substitution C T intron_variant MELA-AU 3 12357926 12357926 single base substitution G A intron_variant MELA-AU 3 12357940 12357940 single base substitution G A intron_variant MELA-AU 3 12357945 12357945 single base substitution G A intron_variant MELA-AU 3 12358181 12358181 single base substitution G A intron_variant MELA-AU 3 12358210 12358210 single base substitution C T intron_variant MELA-AU 3 12358250 12358250 single base substitution C T intron_variant MELA-AU 3 12358330 12358330 single base substitution G A intron_variant MELA-AU 3 12358393 12358393 single base substitution G A intron_variant MELA-AU 3 12358423 12358423 single base substitution G A intron_variant MELA-AU 3 12358424 12358424 single base substitution A G intron_variant MELA-AU 3 12358575 12358575 single base substitution G A intron_variant MELA-AU 3 12358637 12358637 single base substitution C T intron_variant MELA-AU 3 12359664 12359664 insertion of <=200bp - GGCC intron_variant MELA-AU 3 12359717 12359717 single base substitution C T intron_variant MELA-AU 3 12360033 12360033 single base substitution G A intron_variant MELA-AU 3 12360463 12360463 single base substitution C T intron_variant MELA-AU 3 12360508 12360508 single base substitution A T intron_variant MELA-AU 3 12360637 12360637 single base substitution C T intron_variant MELA-AU 3 12360706 12360706 single base substitution C T intron_variant MELA-AU 3 12360707 12360707 single base substitution C T intron_variant MELA-AU 3 12360758 12360758 single base substitution G A intron_variant MELA-AU 3 12361243 12361244 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 12361291 12361291 single base substitution C T intron_variant MELA-AU 3 12361312 12361312 single base substitution C T intron_variant MELA-AU 3 12361868 12361868 single base substitution C T intron_variant MELA-AU 3 12361891 12361891 single base substitution C T intron_variant MELA-AU 3 12362121 12362121 single base substitution C T intron_variant MELA-AU 3 12362355 12362355 single base substitution G A intron_variant MELA-AU 3 12362775 12362775 single base substitution G A intron_variant MELA-AU 3 12362783 12362783 single base substitution G A intron_variant MELA-AU 3 12364091 12364091 single base substitution G A intron_variant MELA-AU 3 12364153 12364153 single base substitution C T intron_variant MELA-AU 3 12364229 12364229 single base substitution G A intron_variant MELA-AU 3 12364235 12364235 single base substitution G A intron_variant MELA-AU 3 12364408 12364408 single base substitution C T intron_variant MELA-AU 3 12364911 12364911 single base substitution T C intron_variant MELA-AU 3 12364951 12364951 single base substitution C T intron_variant MELA-AU 3 12365034 12365034 single base substitution A G intron_variant MELA-AU 3 12365661 12365661 single base substitution C T intron_variant MELA-AU 3 12365890 12365890 single base substitution G A intron_variant MELA-AU 3 12366301 12366302 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 12366357 12366357 single base substitution C T intron_variant MELA-AU 3 12367279 12367279 single base substitution C T intron_variant MELA-AU 3 12367285 12367285 single base substitution G A intron_variant MELA-AU 3 12367403 12367403 single base substitution C T intron_variant MELA-AU 3 12367476 12367476 single base substitution G A intron_variant MELA-AU 3 12367553 12367553 single base substitution G A intron_variant MELA-AU 3 12367658 12367658 single base substitution C T intron_variant MELA-AU 3 12367698 12367698 single base substitution G A intron_variant MELA-AU 3 12367952 12367952 single base substitution G A intron_variant MELA-AU 3 12368475 12368475 single base substitution T C intron_variant MELA-AU 3 12368487 12368487 single base substitution C T intron_variant MELA-AU 3 12369272 12369272 single base substitution C T intron_variant MELA-AU 3 12369820 12369820 single base substitution G C intron_variant MELA-AU 3 12369993 12369993 single base substitution C T intron_variant MELA-AU 3 12370503 12370503 single base substitution C T intron_variant MELA-AU 3 12370644 12370644 single base substitution G A intron_variant MELA-AU 3 12370783 12370783 single base substitution G A intron_variant MELA-AU 3 12371444 12371444 single base substitution C T intron_variant MELA-AU 3 12371492 12371492 single base substitution T C intron_variant MELA-AU 3 12371506 12371506 single base substitution G A intron_variant MELA-AU 3 12371645 12371645 single base substitution G A intron_variant MELA-AU 3 12371746 12371746 single base substitution C T intron_variant MELA-AU 3 12372067 12372067 single base substitution C T intron_variant MELA-AU 3 12372217 12372217 single base substitution C T intron_variant MELA-AU 3 12372218 12372218 single base substitution C T intron_variant MELA-AU 3 12372950 12372950 single base substitution C T intron_variant MELA-AU 3 12373126 12373126 single base substitution G A intron_variant MELA-AU 3 12373269 12373269 single base substitution C T intron_variant MELA-AU 3 12373425 12373425 single base substitution G A intron_variant MELA-AU 3 12373803 12373803 single base substitution C T intron_variant MELA-AU 3 12374068 12374068 single base substitution G A intron_variant MELA-AU 3 12374302 12374302 single base substitution G A intron_variant MELA-AU 3 12374457 12374457 single base substitution G A intron_variant MELA-AU 3 12374499 12374499 single base substitution C T intron_variant MELA-AU 3 12374945 12374945 single base substitution G A intron_variant MELA-AU 3 12375190 12375190 single base substitution G A intron_variant MELA-AU 3 12375243 12375243 single base substitution C T intron_variant MELA-AU 3 12375296 12375296 single base substitution C T intron_variant MELA-AU 3 12375415 12375415 single base substitution C T intron_variant MELA-AU 3 12375583 12375583 single base substitution C T intron_variant MELA-AU 3 12375674 12375674 single base substitution G A intron_variant MELA-AU 3 12375732 12375732 single base substitution C T intron_variant MELA-AU 3 12375820 12375820 single base substitution C T intron_variant MELA-AU 3 12375864 12375864 single base substitution G A intron_variant MELA-AU 3 12375865 12375865 single base substitution G A intron_variant MELA-AU 3 12375947 12375947 single base substitution C T intron_variant MELA-AU 3 12375969 12375969 single base substitution G A intron_variant MELA-AU 3 12376070 12376070 single base substitution G T intron_variant MELA-AU 3 12376156 12376156 single base substitution G A intron_variant MELA-AU 3 12376412 12376412 single base substitution C T intron_variant MELA-AU 3 12376440 12376440 single base substitution G A intron_variant MELA-AU 3 12376615 12376615 single base substitution G A intron_variant MELA-AU 3 12376993 12376993 single base substitution C T intron_variant MELA-AU 3 12377141 12377141 single base substitution C T intron_variant MELA-AU 3 12377243 12377243 single base substitution C T intron_variant MELA-AU 3 12377278 12377278 single base substitution A T intron_variant MELA-AU 3 12378247 12378247 single base substitution G A intron_variant MELA-AU 3 12378265 12378265 single base substitution G A intron_variant MELA-AU 3 12378285 12378285 single base substitution C T intron_variant MELA-AU 3 12378303 12378303 single base substitution G A intron_variant MELA-AU 3 12378522 12378522 single base substitution C T intron_variant MELA-AU 3 12378690 12378690 single base substitution T C intron_variant MELA-AU 3 12379010 12379010 single base substitution C T intron_variant MELA-AU 3 12379065 12379065 single base substitution C T intron_variant MELA-AU 3 12379087 12379087 single base substitution G A intron_variant MELA-AU 3 12379246 12379246 single base substitution G A intron_variant MELA-AU 3 12379270 12379270 single base substitution A T intron_variant MELA-AU 3 12379295 12379295 deletion of <=200bp A - intron_variant MELA-AU 3 12379307 12379307 single base substitution T A intron_variant MELA-AU 3 12379318 12379318 single base substitution G A intron_variant MELA-AU 3 12379469 12379469 single base substitution C A intron_variant MELA-AU 3 12379502 12379502 single base substitution G A intron_variant MELA-AU 3 12379637 12379637 single base substitution G A intron_variant MELA-AU 3 12379767 12379767 single base substitution A G intron_variant MELA-AU 3 12379925 12379925 single base substitution A T intron_variant MELA-AU 3 12380085 12380085 single base substitution T C intron_variant MELA-AU 3 12380195 12380195 single base substitution C T intron_variant MELA-AU 3 12380519 12380519 single base substitution G A intron_variant MELA-AU 3 12380645 12380645 single base substitution C T intron_variant MELA-AU 3 12380922 12380922 single base substitution C T intron_variant MELA-AU 3 12381132 12381132 single base substitution C T intron_variant MELA-AU 3 12381196 12381196 single base substitution C T intron_variant MELA-AU 3 12381206 12381206 single base substitution C T intron_variant MELA-AU 3 12381255 12381255 single base substitution G A intron_variant MELA-AU 3 12381533 12381533 single base substitution C A intron_variant MELA-AU 3 12381591 12381591 single base substitution C T intron_variant MELA-AU 3 12381624 12381624 single base substitution G A intron_variant MELA-AU 3 12381674 12381674 single base substitution C T intron_variant MELA-AU 3 12381786 12381786 single base substitution C T intron_variant MELA-AU 3 12381985 12381985 single base substitution C T intron_variant MELA-AU 3 12381993 12381993 single base substitution C T intron_variant MELA-AU 3 12382000 12382000 single base substitution C T intron_variant MELA-AU 3 12382059 12382059 single base substitution G A intron_variant MELA-AU 3 12382394 12382394 single base substitution G A intron_variant MELA-AU 3 12382431 12382431 single base substitution C T intron_variant MELA-AU 3 12382479 12382479 single base substitution C T intron_variant MELA-AU 3 12382601 12382601 single base substitution G A intron_variant MELA-AU 3 12382747 12382748 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 12382754 12382754 single base substitution G A intron_variant MELA-AU 3 12382776 12382776 single base substitution G A intron_variant MELA-AU 3 12382940 12382940 single base substitution C T intron_variant MELA-AU 3 12382945 12382945 single base substitution C T intron_variant MELA-AU 3 12383004 12383004 single base substitution C T intron_variant MELA-AU 3 12383327 12383327 single base substitution C T intron_variant MELA-AU 3 12383489 12383489 single base substitution C G intron_variant MELA-AU 3 12383577 12383577 single base substitution G A intron_variant MELA-AU 3 12383615 12383615 single base substitution G A intron_variant MELA-AU 3 12383679 12383679 single base substitution G A intron_variant MELA-AU 3 12383982 12383982 single base substitution G A intron_variant MELA-AU 3 12384161 12384161 single base substitution C T intron_variant MELA-AU 3 12384700 12384700 single base substitution C T intron_variant MELA-AU 3 12384701 12384701 single base substitution C T intron_variant MELA-AU 3 12385288 12385288 single base substitution C T intron_variant MELA-AU 3 12385357 12385357 single base substitution C A intron_variant MELA-AU 3 12385364 12385364 single base substitution T G intron_variant MELA-AU 3 12385611 12385611 single base substitution C T intron_variant MELA-AU 3 12386246 12386246 single base substitution G A intron_variant MELA-AU 3 12386554 12386554 single base substitution G A intron_variant MELA-AU 3 12386657 12386657 single base substitution G A intron_variant MELA-AU 3 12387024 12387024 single base substitution C T intron_variant MELA-AU 3 12387132 12387132 single base substitution C T intron_variant MELA-AU 3 12387180 12387181 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 12387378 12387378 single base substitution G A intron_variant MELA-AU 3 12387559 12387559 single base substitution G A intron_variant MELA-AU 3 12387655 12387655 single base substitution G A intron_variant MELA-AU 3 12387686 12387686 single base substitution G A intron_variant MELA-AU 3 12387707 12387707 single base substitution C T intron_variant MELA-AU 3 12387775 12387775 single base substitution C T intron_variant MELA-AU 3 12388155 12388155 single base substitution A T intron_variant MELA-AU 3 12388155 12388155 single base substitution A T upstream_gene_variant MELA-AU 3 12388239 12388239 single base substitution C T intron_variant MELA-AU 3 12388239 12388239 single base substitution C T upstream_gene_variant MELA-AU 3 12388419 12388419 single base substitution G A intron_variant MELA-AU 3 12388419 12388419 single base substitution G A upstream_gene_variant MELA-AU 3 12388548 12388548 single base substitution G A intron_variant MELA-AU 3 12388548 12388548 single base substitution G A upstream_gene_variant MELA-AU 3 12388608 12388608 single base substitution G A intron_variant MELA-AU 3 12388608 12388608 single base substitution G A upstream_gene_variant MELA-AU 3 12388621 12388622 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 3 12388621 12388622 multiple base substitution (>=2bp and <=200bp) GG AT upstream_gene_variant MELA-AU 3 12389202 12389202 single base substitution A G intron_variant MELA-AU 3 12389202 12389202 single base substitution A G upstream_gene_variant MELA-AU 3 12389439 12389439 single base substitution G A intron_variant MELA-AU 3 12389439 12389439 single base substitution G A upstream_gene_variant MELA-AU 3 12389617 12389617 single base substitution C T intron_variant MELA-AU 3 12389617 12389617 single base substitution C T upstream_gene_variant MELA-AU 3 12389741 12389741 single base substitution G A intron_variant MELA-AU 3 12389741 12389741 single base substitution G A upstream_gene_variant MELA-AU 3 12390463 12390463 single base substitution G A intron_variant MELA-AU 3 12390463 12390463 single base substitution G A upstream_gene_variant MELA-AU 3 12390490 12390490 single base substitution T G intron_variant MELA-AU 3 12390490 12390490 single base substitution T G upstream_gene_variant MELA-AU 3 12390494 12390494 single base substitution C T intron_variant MELA-AU 3 12390494 12390494 single base substitution C T upstream_gene_variant MELA-AU 3 12390753 12390753 single base substitution G A intron_variant MELA-AU 3 12390753 12390753 single base substitution G A upstream_gene_variant MELA-AU 3 12391092 12391092 single base substitution T A intron_variant MELA-AU 3 12391092 12391092 single base substitution T A upstream_gene_variant MELA-AU 3 12391587 12391587 single base substitution C T intron_variant MELA-AU 3 12391587 12391587 single base substitution C T upstream_gene_variant MELA-AU 3 12392023 12392023 single base substitution C T intron_variant MELA-AU 3 12392023 12392023 single base substitution C T upstream_gene_variant MELA-AU 3 12392152 12392152 single base substitution C T intron_variant MELA-AU 3 12392152 12392152 single base substitution C T upstream_gene_variant MELA-AU 3 12392483 12392483 single base substitution C T intron_variant MELA-AU 3 12392483 12392483 single base substitution C T upstream_gene_variant MELA-AU 3 12392502 12392502 single base substitution C T intron_variant MELA-AU 3 12392502 12392502 single base substitution C T upstream_gene_variant MELA-AU 3 12392603 12392603 single base substitution G A intron_variant MELA-AU 3 12392603 12392603 single base substitution G A upstream_gene_variant MELA-AU 3 12392607 12392607 single base substitution G A intron_variant MELA-AU 3 12392607 12392607 single base substitution G A upstream_gene_variant MELA-AU 3 12392633 12392633 single base substitution G A intron_variant MELA-AU 3 12392633 12392633 single base substitution G A upstream_gene_variant MELA-AU 3 12392651 12392651 single base substitution G A intron_variant MELA-AU 3 12392651 12392651 single base substitution G A upstream_gene_variant MELA-AU 3 12393083 12393083 single base substitution C T 5_prime_UTR_variant MELA-AU 3 12393083 12393083 single base substitution C T exon_variant MELA-AU 3 12393083 12393083 single base substitution C T intron_variant MELA-AU 3 12393134 12393134 single base substitution G A exon_variant MELA-AU 3 12393134 12393134 single base substitution G A intron_variant MELA-AU 3 12393134 12393134 single base substitution G A missense_variant D15N 43G>A MELA-AU 3 12393484 12393484 single base substitution C T intron_variant MELA-AU 3 12393558 12393558 single base substitution C T intron_variant MELA-AU 3 12393687 12393687 single base substitution C T intron_variant MELA-AU 3 12393740 12393740 single base substitution G T intron_variant MELA-AU 3 12394090 12394090 single base substitution G A intron_variant MELA-AU 3 12394264 12394264 single base substitution G A intron_variant MELA-AU 3 12394573 12394573 single base substitution G A intron_variant MELA-AU 3 12394702 12394702 single base substitution C T intron_variant MELA-AU 3 12394954 12394954 single base substitution G A intron_variant MELA-AU 3 12394992 12394992 single base substitution G A intron_variant MELA-AU 3 12395083 12395083 single base substitution G A intron_variant MELA-AU 3 12395206 12395206 single base substitution G A intron_variant MELA-AU 3 12395302 12395302 single base substitution G T intron_variant MELA-AU 3 12395704 12395705 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 12395889 12395889 single base substitution G A intron_variant MELA-AU 3 12396058 12396058 single base substitution C T intron_variant MELA-AU 3 12396384 12396384 single base substitution G A intron_variant MELA-AU 3 12396455 12396455 single base substitution G A intron_variant MELA-AU 3 12396476 12396476 single base substitution C T intron_variant MELA-AU 3 12396511 12396511 single base substitution C T intron_variant MELA-AU 3 12396725 12396725 single base substitution C T intron_variant MELA-AU 3 12396741 12396741 single base substitution C T intron_variant MELA-AU 3 12396817 12396818 multiple base substitution (>=2bp and <=200bp) TA AG intron_variant MELA-AU 3 12396831 12396831 single base substitution C T intron_variant MELA-AU 3 12397015 12397015 single base substitution C T intron_variant MELA-AU 3 12397037 12397037 single base substitution C T intron_variant MELA-AU 3 12397147 12397147 single base substitution T C intron_variant MELA-AU 3 12397435 12397435 single base substitution G A intron_variant MELA-AU 3 12397442 12397442 single base substitution C T intron_variant MELA-AU 3 12397446 12397446 single base substitution G A intron_variant MELA-AU 3 12397525 12397525 single base substitution C T intron_variant MELA-AU 3 12398208 12398208 single base substitution C T intron_variant MELA-AU 3 12398648 12398648 single base substitution G A intron_variant MELA-AU 3 12398928 12398928 single base substitution C T intron_variant MELA-AU 3 12399657 12399657 single base substitution C T intron_variant MELA-AU 3 12399937 12399937 single base substitution C T intron_variant MELA-AU 3 12399966 12399966 single base substitution G A intron_variant MELA-AU 3 12400272 12400272 single base substitution T C intron_variant MELA-AU 3 12400424 12400424 single base substitution G A intron_variant MELA-AU 3 12400565 12400565 single base substitution C T intron_variant MELA-AU 3 12400617 12400617 single base substitution C T intron_variant MELA-AU 3 12400901 12400901 single base substitution G A intron_variant MELA-AU 3 12400979 12400979 single base substitution G A intron_variant MELA-AU 3 12401060 12401060 single base substitution C T intron_variant MELA-AU 3 12401135 12401135 single base substitution A T intron_variant MELA-AU 3 12401164 12401164 single base substitution C G intron_variant MELA-AU 3 12401185 12401185 single base substitution T C intron_variant MELA-AU 3 12401309 12401309 single base substitution G A intron_variant MELA-AU 3 12401354 12401354 single base substitution G A intron_variant MELA-AU 3 12401719 12401719 single base substitution C T intron_variant MELA-AU 3 12401725 12401725 single base substitution G T intron_variant MELA-AU 3 12401933 12401933 single base substitution C T intron_variant MELA-AU 3 12402017 12402017 single base substitution G A intron_variant MELA-AU 3 12402211 12402211 single base substitution G A intron_variant MELA-AU 3 12402442 12402442 single base substitution G T intron_variant MELA-AU 3 12402909 12402909 single base substitution C T intron_variant MELA-AU 3 12403060 12403060 single base substitution G A intron_variant MELA-AU 3 12403412 12403412 single base substitution G A intron_variant MELA-AU 3 12403444 12403444 single base substitution C T intron_variant MELA-AU 3 12403763 12403763 single base substitution C T intron_variant MELA-AU 3 12403863 12403863 single base substitution G A intron_variant MELA-AU 3 12403986 12403986 single base substitution C T intron_variant MELA-AU 3 12404163 12404163 single base substitution C T intron_variant MELA-AU 3 12404290 12404290 single base substitution G A intron_variant MELA-AU 3 12404357 12404357 single base substitution C T intron_variant MELA-AU 3 12404377 12404377 single base substitution T A intron_variant MELA-AU 3 12404677 12404677 single base substitution C T intron_variant MELA-AU 3 12405245 12405245 single base substitution C T intron_variant MELA-AU 3 12405439 12405439 single base substitution G A intron_variant MELA-AU 3 12405466 12405466 single base substitution C T intron_variant MELA-AU 3 12405601 12405601 single base substitution C T intron_variant MELA-AU 3 12405647 12405647 single base substitution C T intron_variant MELA-AU 3 12405698 12405698 single base substitution G A intron_variant MELA-AU 3 12405823 12405823 single base substitution T A intron_variant MELA-AU 3 12405901 12405901 single base substitution G A intron_variant MELA-AU 3 12405943 12405943 single base substitution C T intron_variant MELA-AU 3 12406323 12406323 single base substitution C T intron_variant MELA-AU 3 12406668 12406668 single base substitution G A intron_variant MELA-AU 3 12406683 12406683 single base substitution C T intron_variant MELA-AU 3 12406732 12406732 single base substitution C T intron_variant MELA-AU 3 12406759 12406759 single base substitution G A intron_variant MELA-AU 3 12406815 12406816 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 12407290 12407290 single base substitution C A intron_variant MELA-AU 3 12407684 12407684 single base substitution G A intron_variant MELA-AU 3 12408317 12408317 single base substitution C T intron_variant MELA-AU 3 12408508 12408508 single base substitution G A intron_variant MELA-AU 3 12408533 12408533 single base substitution C T intron_variant MELA-AU 3 12408688 12408688 single base substitution C T intron_variant MELA-AU 3 12408974 12408974 single base substitution C T intron_variant MELA-AU 3 12408977 12408977 single base substitution T G intron_variant MELA-AU 3 12409028 12409028 single base substitution C G intron_variant MELA-AU 3 12409030 12409030 single base substitution C T intron_variant MELA-AU 3 12409040 12409040 single base substitution G A intron_variant MELA-AU 3 12409301 12409301 single base substitution G A intron_variant MELA-AU 3 12409321 12409321 single base substitution C T intron_variant MELA-AU 3 12409345 12409345 single base substitution G A intron_variant MELA-AU 3 12409403 12409403 single base substitution T C intron_variant MELA-AU 3 12409784 12409784 single base substitution G A intron_variant MELA-AU 3 12409938 12409938 single base substitution C T intron_variant MELA-AU 3 12410023 12410023 single base substitution C T intron_variant MELA-AU 3 12410070 12410070 single base substitution C T intron_variant MELA-AU 3 12410274 12410274 single base substitution G A intron_variant MELA-AU 3 12410479 12410479 single base substitution C G intron_variant MELA-AU 3 12410542 12410542 single base substitution T A intron_variant MELA-AU 3 12410619 12410619 single base substitution C T intron_variant MELA-AU 3 12410652 12410652 single base substitution C T intron_variant MELA-AU 3 12410782 12410782 single base substitution G A intron_variant MELA-AU 3 12410910 12410910 single base substitution G A intron_variant MELA-AU 3 12411019 12411019 single base substitution A T intron_variant MELA-AU 3 12411048 12411048 single base substitution C T intron_variant MELA-AU 3 12411102 12411102 single base substitution C T intron_variant MELA-AU 3 12411121 12411121 single base substitution T A intron_variant MELA-AU 3 12411405 12411405 single base substitution C T intron_variant MELA-AU 3 12411522 12411522 single base substitution C T intron_variant MELA-AU 3 12411536 12411536 single base substitution C T intron_variant MELA-AU 3 12411537 12411537 single base substitution C T intron_variant MELA-AU 3 12411921 12411921 single base substitution C T intron_variant MELA-AU 3 12412323 12412323 single base substitution G A intron_variant MELA-AU 3 12412394 12412394 single base substitution G A intron_variant MELA-AU 3 12412620 12412620 single base substitution T C intron_variant MELA-AU 3 12412677 12412677 single base substitution C T intron_variant MELA-AU 3 12412789 12412789 single base substitution G A intron_variant MELA-AU 3 12413119 12413119 single base substitution C T intron_variant MELA-AU 3 12413355 12413355 single base substitution C T 5_prime_UTR_variant MELA-AU 3 12413355 12413355 single base substitution C T exon_variant MELA-AU 3 12413355 12413355 single base substitution C T intron_variant MELA-AU 3 12413363 12413363 single base substitution T C 5_prime_UTR_variant MELA-AU 3 12413363 12413363 single base substitution T C exon_variant MELA-AU 3 12413363 12413363 single base substitution T C intron_variant MELA-AU 3 12413837 12413837 single base substitution G A intron_variant MELA-AU 3 12413903 12413903 single base substitution T C intron_variant MELA-AU 3 12413972 12413972 single base substitution C T intron_variant MELA-AU 3 12414004 12414004 single base substitution C T intron_variant MELA-AU 3 12414036 12414036 single base substitution G A intron_variant MELA-AU 3 12414040 12414040 single base substitution T C intron_variant MELA-AU 3 12414482 12414482 single base substitution C G intron_variant MELA-AU 3 12414936 12414936 single base substitution C T intron_variant MELA-AU 3 12415162 12415162 single base substitution A T intron_variant MELA-AU 3 12415199 12415199 single base substitution G A intron_variant MELA-AU 3 12415229 12415229 single base substitution C T intron_variant MELA-AU 3 12415250 12415250 single base substitution G A intron_variant MELA-AU 3 12415373 12415373 single base substitution A T intron_variant MELA-AU 3 12415416 12415416 single base substitution G A intron_variant MELA-AU 3 12415703 12415703 single base substitution G A intron_variant MELA-AU 3 12415972 12415972 single base substitution C T intron_variant MELA-AU 3 12415977 12415977 single base substitution A T intron_variant MELA-AU 3 12415993 12415993 single base substitution G T intron_variant MELA-AU 3 12416081 12416081 single base substitution G A intron_variant MELA-AU 3 12416572 12416572 single base substitution G A intron_variant MELA-AU 3 12416572 12416572 single base substitution G A upstream_gene_variant MELA-AU 3 12416717 12416717 single base substitution C T intron_variant MELA-AU 3 12416717 12416717 single base substitution C T upstream_gene_variant MELA-AU 3 12416914 12416914 single base substitution C T intron_variant MELA-AU 3 12416914 12416914 single base substitution C T upstream_gene_variant MELA-AU 3 12417069 12417069 single base substitution G A intron_variant MELA-AU 3 12417069 12417069 single base substitution G A upstream_gene_variant MELA-AU 3 12417172 12417172 single base substitution G A intron_variant MELA-AU 3 12417172 12417172 single base substitution G A upstream_gene_variant MELA-AU 3 12417646 12417646 single base substitution C T intron_variant MELA-AU 3 12417646 12417646 single base substitution C T upstream_gene_variant MELA-AU 3 12417921 12417921 single base substitution G A intron_variant MELA-AU 3 12417921 12417921 single base substitution G A upstream_gene_variant MELA-AU 3 12418228 12418228 single base substitution C T intron_variant MELA-AU 3 12418228 12418228 single base substitution C T upstream_gene_variant MELA-AU 3 12418582 12418582 single base substitution C T intron_variant MELA-AU 3 12418582 12418582 single base substitution C T upstream_gene_variant MELA-AU 3 12418742 12418742 single base substitution C T intron_variant MELA-AU 3 12418742 12418742 single base substitution C T upstream_gene_variant MELA-AU 3 12418743 12418743 single base substitution A G intron_variant MELA-AU 3 12418743 12418743 single base substitution A G upstream_gene_variant MELA-AU 3 12418757 12418757 single base substitution C T intron_variant MELA-AU 3 12418757 12418757 single base substitution C T upstream_gene_variant MELA-AU 3 12418882 12418882 single base substitution C T intron_variant MELA-AU 3 12418882 12418882 single base substitution C T upstream_gene_variant MELA-AU 3 12418988 12418988 single base substitution G A intron_variant MELA-AU 3 12418988 12418988 single base substitution G A upstream_gene_variant MELA-AU 3 12419011 12419011 single base substitution C T intron_variant MELA-AU 3 12419011 12419011 single base substitution C T upstream_gene_variant MELA-AU 3 12419084 12419084 single base substitution C T intron_variant MELA-AU 3 12419084 12419084 single base substitution C T upstream_gene_variant MELA-AU 3 12419091 12419091 single base substitution C T intron_variant MELA-AU 3 12419091 12419091 single base substitution C T upstream_gene_variant MELA-AU 3 12419114 12419114 single base substitution C T intron_variant MELA-AU 3 12419114 12419114 single base substitution C T upstream_gene_variant MELA-AU 3 12419287 12419287 single base substitution G A intron_variant MELA-AU 3 12419287 12419287 single base substitution G A upstream_gene_variant MELA-AU 3 12419541 12419541 single base substitution G A intron_variant MELA-AU 3 12419541 12419541 single base substitution G A upstream_gene_variant MELA-AU 3 12419562 12419562 single base substitution G A intron_variant MELA-AU 3 12419562 12419562 single base substitution G A upstream_gene_variant MELA-AU 3 12419780 12419780 single base substitution G A intron_variant MELA-AU 3 12419780 12419780 single base substitution G A upstream_gene_variant MELA-AU 3 12419785 12419785 single base substitution G A intron_variant MELA-AU 3 12419785 12419785 single base substitution G A upstream_gene_variant MELA-AU 3 12420003 12420003 single base substitution C T intron_variant MELA-AU 3 12420003 12420003 single base substitution C T upstream_gene_variant MELA-AU 3 12420184 12420184 single base substitution G A intron_variant MELA-AU 3 12420184 12420184 single base substitution G A upstream_gene_variant MELA-AU 3 12420308 12420308 single base substitution G A intron_variant MELA-AU 3 12420308 12420308 single base substitution G A upstream_gene_variant MELA-AU 3 12420376 12420376 single base substitution G A intron_variant MELA-AU 3 12420376 12420376 single base substitution G A upstream_gene_variant MELA-AU 3 12420419 12420419 single base substitution C T intron_variant MELA-AU 3 12420419 12420419 single base substitution C T upstream_gene_variant MELA-AU 3 12420615 12420615 single base substitution C T intron_variant MELA-AU 3 12420615 12420615 single base substitution C T upstream_gene_variant MELA-AU 3 12420724 12420724 single base substitution G A intron_variant MELA-AU 3 12420724 12420724 single base substitution G A upstream_gene_variant MELA-AU 3 12420999 12420999 single base substitution G A intron_variant MELA-AU 3 12420999 12420999 single base substitution G A upstream_gene_variant MELA-AU 3 12421195 12421195 single base substitution C T intron_variant MELA-AU 3 12421195 12421195 single base substitution C T splice_region_variant MELA-AU 3 12421195 12421195 single base substitution C T upstream_gene_variant MELA-AU 3 12421234 12421234 single base substitution C T 3_prime_UTR_variant MELA-AU 3 12421234 12421234 single base substitution C T exon_variant MELA-AU 3 12421234 12421234 single base substitution C T synonymous_variant F10F 30C>T MELA-AU 3 12421234 12421234 single base substitution C T synonymous_variant F16F 48C>T MELA-AU 3 12421234 12421234 single base substitution C T synonymous_variant F38F 114C>T MELA-AU 3 12421234 12421234 single base substitution C T synonymous_variant F8F 24C>T MELA-AU 3 12421299 12421299 single base substitution T G 3_prime_UTR_variant MELA-AU 3 12421299 12421299 single base substitution T G exon_variant MELA-AU 3 12421299 12421299 single base substitution T G missense_variant F30C 89T>G MELA-AU 3 12421299 12421299 single base substitution T G missense_variant F32C 95T>G MELA-AU 3 12421299 12421299 single base substitution T G missense_variant F38C 113T>G MELA-AU 3 12421299 12421299 single base substitution T G missense_variant F60C 179T>G MELA-AU 3 12421561 12421561 single base substitution C T downstream_gene_variant MELA-AU 3 12421561 12421561 single base substitution C T intron_variant MELA-AU 3 12422456 12422456 single base substitution A T downstream_gene_variant MELA-AU 3 12422456 12422456 single base substitution A T intron_variant MELA-AU 3 12422671 12422671 single base substitution C T downstream_gene_variant MELA-AU 3 12422671 12422671 single base substitution C T intron_variant MELA-AU 3 12422788 12422788 single base substitution G A downstream_gene_variant MELA-AU 3 12422788 12422788 single base substitution G A intron_variant MELA-AU 3 12422847 12422847 single base substitution C T 3_prime_UTR_variant MELA-AU 3 12422847 12422847 single base substitution C T downstream_gene_variant MELA-AU 3 12422847 12422847 single base substitution C T exon_variant MELA-AU 3 12422847 12422847 single base substitution C T missense_variant P113S 337C>T MELA-AU 3 12422847 12422847 single base substitution C T missense_variant P83S 247C>T MELA-AU 3 12422847 12422847 single base substitution C T missense_variant P85S 253C>T MELA-AU 3 12422847 12422847 single base substitution C T missense_variant P91S 271C>T MELA-AU 3 12422952 12422953 multiple base substitution (>=2bp and <=200bp) GG AC 3_prime_UTR_variant MELA-AU 3 12422952 12422953 multiple base substitution (>=2bp and <=200bp) GG AC downstream_gene_variant MELA-AU 3 12422952 12422953 multiple base substitution (>=2bp and <=200bp) GG AC exon_variant MELA-AU 3 12422952 12422953 multiple base substitution (>=2bp and <=200bp) GG AC missense_variant G118T 352GG>AC MELA-AU 3 12422952 12422953 multiple base substitution (>=2bp and <=200bp) GG AC missense_variant G120T 358GG>AC MELA-AU 3 12422952 12422953 multiple base substitution (>=2bp and <=200bp) GG AC missense_variant G126T 376GG>AC MELA-AU 3 12422952 12422953 multiple base substitution (>=2bp and <=200bp) GG AC missense_variant G148T 442GG>AC MELA-AU 3 12422964 12422964 single base substitution G A 3_prime_UTR_variant MELA-AU 3 12422964 12422964 single base substitution G A downstream_gene_variant MELA-AU 3 12422964 12422964 single base substitution G A exon_variant MELA-AU 3 12422964 12422964 single base substitution G A missense_variant G122R 364G>A MELA-AU 3 12422964 12422964 single base substitution G A missense_variant G124R 370G>A MELA-AU 3 12422964 12422964 single base substitution G A missense_variant G130R 388G>A MELA-AU 3 12422964 12422964 single base substitution G A missense_variant G152R 454G>A MELA-AU 3 12422979 12422979 single base substitution G A 3_prime_UTR_variant MELA-AU 3 12422979 12422979 single base substitution G A downstream_gene_variant MELA-AU 3 12422979 12422979 single base substitution G A exon_variant MELA-AU 3 12422979 12422979 single base substitution G A missense_variant E127K 379G>A MELA-AU 3 12422979 12422979 single base substitution G A missense_variant E129K 385G>A MELA-AU 3 12422979 12422979 single base substitution G A missense_variant E135K 403G>A MELA-AU 3 12422979 12422979 single base substitution G A missense_variant E157K 469G>A MELA-AU 3 12423044 12423044 single base substitution C T downstream_gene_variant MELA-AU 3 12423044 12423044 single base substitution C T intron_variant MELA-AU 3 12423078 12423078 single base substitution G A downstream_gene_variant MELA-AU 3 12423078 12423078 single base substitution G A intron_variant MELA-AU 3 12423089 12423089 single base substitution C T downstream_gene_variant MELA-AU 3 12423089 12423089 single base substitution C T intron_variant MELA-AU 3 12423209 12423209 single base substitution G A downstream_gene_variant MELA-AU 3 12423209 12423209 single base substitution G A intron_variant MELA-AU 3 12423248 12423248 single base substitution G A downstream_gene_variant MELA-AU 3 12423248 12423248 single base substitution G A intron_variant MELA-AU 3 12423664 12423664 single base substitution T G downstream_gene_variant MELA-AU 3 12423664 12423664 single base substitution T G intron_variant MELA-AU 3 12423769 12423769 single base substitution C T downstream_gene_variant MELA-AU 3 12423769 12423769 single base substitution C T intron_variant MELA-AU 3 12423922 12423922 single base substitution C T downstream_gene_variant MELA-AU 3 12423922 12423922 single base substitution C T intron_variant MELA-AU 3 12424124 12424124 single base substitution C T downstream_gene_variant MELA-AU 3 12424124 12424124 single base substitution C T intron_variant MELA-AU 3 12424302 12424302 single base substitution C T downstream_gene_variant MELA-AU 3 12424302 12424302 single base substitution C T intron_variant MELA-AU 3 12424316 12424316 single base substitution A T downstream_gene_variant MELA-AU 3 12424316 12424316 single base substitution A T intron_variant MELA-AU 3 12424592 12424592 single base substitution A T downstream_gene_variant MELA-AU 3 12424592 12424592 single base substitution A T intron_variant MELA-AU 3 12424838 12424838 single base substitution G A downstream_gene_variant MELA-AU 3 12424838 12424838 single base substitution G A intron_variant MELA-AU 3 12425235 12425235 single base substitution G A downstream_gene_variant MELA-AU 3 12425235 12425235 single base substitution G A intron_variant MELA-AU 3 12425843 12425843 single base substitution C T downstream_gene_variant MELA-AU 3 12425843 12425843 single base substitution C T intron_variant MELA-AU 3 12426241 12426241 single base substitution C T downstream_gene_variant MELA-AU 3 12426241 12426241 single base substitution C T intron_variant MELA-AU 3 12426362 12426362 single base substitution C T downstream_gene_variant MELA-AU 3 12426362 12426362 single base substitution C T intron_variant MELA-AU 3 12426414 12426414 single base substitution G A downstream_gene_variant MELA-AU 3 12426414 12426414 single base substitution G A intron_variant MELA-AU 3 12426443 12426443 single base substitution G A downstream_gene_variant MELA-AU 3 12426443 12426443 single base substitution G A intron_variant MELA-AU 3 12426663 12426663 single base substitution C T downstream_gene_variant MELA-AU 3 12426663 12426663 single base substitution C T intron_variant MELA-AU 3 12427093 12427093 single base substitution A T downstream_gene_variant MELA-AU 3 12427093 12427093 single base substitution A T intron_variant MELA-AU 3 12427108 12427108 single base substitution C T downstream_gene_variant MELA-AU 3 12427108 12427108 single base substitution C T intron_variant MELA-AU 3 12427146 12427146 single base substitution C T downstream_gene_variant MELA-AU 3 12427146 12427146 single base substitution C T intron_variant MELA-AU 3 12427196 12427196 single base substitution C T downstream_gene_variant MELA-AU 3 12427196 12427196 single base substitution C T intron_variant MELA-AU 3 12427354 12427354 single base substitution C T downstream_gene_variant MELA-AU 3 12427354 12427354 single base substitution C T intron_variant MELA-AU 3 12427576 12427576 single base substitution C T downstream_gene_variant MELA-AU 3 12427576 12427576 single base substitution C T intron_variant MELA-AU 3 12427727 12427727 single base substitution G A downstream_gene_variant MELA-AU 3 12427727 12427727 single base substitution G A intron_variant MELA-AU 3 12427770 12427770 single base substitution C T downstream_gene_variant MELA-AU 3 12427770 12427770 single base substitution C T intron_variant MELA-AU 3 12427830 12427830 single base substitution G T downstream_gene_variant MELA-AU 3 12427830 12427830 single base substitution G T intron_variant MELA-AU 3 12427993 12427993 single base substitution C T intron_variant MELA-AU 3 12428217 12428217 single base substitution C T intron_variant MELA-AU 3 12428339 12428339 single base substitution G A intron_variant MELA-AU 3 12428359 12428359 single base substitution C T intron_variant MELA-AU 3 12428419 12428419 single base substitution C T intron_variant MELA-AU 3 12428447 12428447 single base substitution C T intron_variant MELA-AU 3 12428505 12428505 single base substitution G T intron_variant MELA-AU 3 12428538 12428538 single base substitution G A intron_variant MELA-AU 3 12428539 12428539 single base substitution G A intron_variant MELA-AU 3 12428851 12428851 single base substitution C T intron_variant MELA-AU 3 12428888 12428888 single base substitution C T intron_variant MELA-AU 3 12428989 12428989 single base substitution C T intron_variant MELA-AU 3 12429077 12429077 single base substitution T A intron_variant MELA-AU 3 12429095 12429095 single base substitution C T intron_variant MELA-AU 3 12429342 12429342 single base substitution G A intron_variant MELA-AU 3 12429369 12429369 single base substitution A T intron_variant MELA-AU 3 12429372 12429372 single base substitution C T intron_variant MELA-AU 3 12429373 12429373 single base substitution C T intron_variant MELA-AU 3 12429409 12429409 single base substitution G A intron_variant MELA-AU 3 12429683 12429683 single base substitution C T intron_variant MELA-AU 3 12429699 12429699 single base substitution C T intron_variant MELA-AU 3 12429886 12429887 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 12429929 12429929 single base substitution C T intron_variant MELA-AU 3 12430006 12430006 single base substitution G A intron_variant MELA-AU 3 12430325 12430325 single base substitution G A intron_variant MELA-AU 3 12430452 12430452 single base substitution G A intron_variant MELA-AU 3 12430551 12430551 single base substitution G A intron_variant MELA-AU 3 12430559 12430559 single base substitution G A intron_variant MELA-AU 3 12430577 12430577 single base substitution G A intron_variant MELA-AU 3 12430636 12430636 single base substitution G A intron_variant MELA-AU 3 12430775 12430775 single base substitution G A intron_variant MELA-AU 3 12430776 12430776 single base substitution A T intron_variant MELA-AU 3 12430886 12430886 single base substitution G A intron_variant MELA-AU 3 12430934 12430934 single base substitution G A intron_variant MELA-AU 3 12431328 12431328 single base substitution G A intron_variant MELA-AU 3 12431575 12431575 single base substitution G A intron_variant MELA-AU 3 12432002 12432002 single base substitution C T intron_variant MELA-AU 3 12432234 12432234 single base substitution C T intron_variant MELA-AU 3 12432419 12432419 single base substitution G A intron_variant MELA-AU 3 12432471 12432471 single base substitution G A intron_variant MELA-AU 3 12432520 12432520 single base substitution C T intron_variant MELA-AU 3 12432530 12432530 single base substitution A G intron_variant MELA-AU 3 12432571 12432571 single base substitution G A intron_variant MELA-AU 3 12432684 12432684 single base substitution C T intron_variant MELA-AU 3 12432790 12432790 single base substitution C T intron_variant MELA-AU 3 12432830 12432830 single base substitution G A intron_variant MELA-AU 3 12432963 12432963 single base substitution A T intron_variant MELA-AU 3 12433031 12433031 single base substitution G A intron_variant MELA-AU 3 12433520 12433520 single base substitution C T intron_variant MELA-AU 3 12433542 12433542 single base substitution T C intron_variant MELA-AU 3 12433612 12433612 single base substitution G A intron_variant MELA-AU 3 12433704 12433704 single base substitution T A intron_variant MELA-AU 3 12433876 12433876 single base substitution G A intron_variant MELA-AU 3 12433906 12433906 single base substitution G A intron_variant MELA-AU 3 12433925 12433925 single base substitution T C intron_variant MELA-AU 3 12433927 12433927 single base substitution C T intron_variant MELA-AU 3 12434028 12434028 single base substitution C T intron_variant MELA-AU 3 12434348 12434348 single base substitution C T intron_variant MELA-AU 3 12434500 12434500 single base substitution G A intron_variant MELA-AU 3 12434720 12434720 single base substitution T C intron_variant MELA-AU 3 12434746 12434746 single base substitution C T intron_variant MELA-AU 3 12434844 12434844 single base substitution A T intron_variant MELA-AU 3 12434854 12434854 single base substitution C T intron_variant MELA-AU 3 12434995 12434995 single base substitution G A intron_variant MELA-AU 3 12435120 12435120 single base substitution G A intron_variant MELA-AU 3 12435190 12435190 single base substitution C T intron_variant MELA-AU 3 12435917 12435917 single base substitution T A intron_variant MELA-AU 3 12436023 12436023 single base substitution T C intron_variant MELA-AU 3 12436589 12436589 single base substitution G A intron_variant MELA-AU 3 12436703 12436703 single base substitution G A intron_variant MELA-AU 3 12436824 12436824 single base substitution G A intron_variant MELA-AU 3 12437178 12437178 single base substitution C T intron_variant MELA-AU 3 12437294 12437294 single base substitution C T intron_variant MELA-AU 3 12437420 12437420 single base substitution C G intron_variant MELA-AU 3 12437420 12437420 single base substitution C T intron_variant MELA-AU 3 12437625 12437625 single base substitution T C intron_variant MELA-AU 3 12437796 12437796 single base substitution T C intron_variant MELA-AU 3 12437841 12437841 single base substitution G A intron_variant MELA-AU 3 12437867 12437867 single base substitution C A intron_variant MELA-AU 3 12438418 12438418 single base substitution C T intron_variant MELA-AU 3 12438578 12438578 single base substitution G A intron_variant MELA-AU 3 12438751 12438751 single base substitution T A intron_variant MELA-AU 3 12438827 12438827 single base substitution G A intron_variant MELA-AU 3 12438828 12438828 single base substitution G A intron_variant MELA-AU 3 12438842 12438842 single base substitution G A intron_variant MELA-AU 3 12438973 12438973 single base substitution G A intron_variant MELA-AU 3 12439109 12439109 single base substitution C T intron_variant MELA-AU 3 12439267 12439267 single base substitution C T intron_variant MELA-AU 3 12439385 12439385 single base substitution C T intron_variant MELA-AU 3 12439422 12439422 single base substitution G A intron_variant MELA-AU 3 12439584 12439584 single base substitution C T intron_variant MELA-AU 3 12439824 12439824 single base substitution C T intron_variant MELA-AU 3 12439833 12439833 single base substitution G A intron_variant MELA-AU 3 12439835 12439835 single base substitution A G intron_variant MELA-AU 3 12439884 12439884 single base substitution G A intron_variant MELA-AU 3 12439900 12439900 single base substitution G A intron_variant MELA-AU 3 12440495 12440495 single base substitution G A intron_variant MELA-AU 3 12440840 12440840 single base substitution C T intron_variant MELA-AU 3 12440840 12440840 single base substitution C T splice_region_variant MELA-AU 3 12441000 12441000 single base substitution C G intron_variant MELA-AU 3 12441078 12441078 single base substitution C T intron_variant MELA-AU 3 12441250 12441250 single base substitution C T intron_variant MELA-AU 3 12441303 12441303 single base substitution G A intron_variant MELA-AU 3 12441594 12441594 single base substitution G A intron_variant MELA-AU 3 12441844 12441844 single base substitution G A intron_variant MELA-AU 3 12442608 12442608 single base substitution C T intron_variant MELA-AU 3 12443053 12443053 single base substitution G A intron_variant MELA-AU 3 12443077 12443077 single base substitution C T intron_variant MELA-AU 3 12443079 12443079 single base substitution C T intron_variant MELA-AU 3 12443716 12443716 single base substitution G A intron_variant MELA-AU 3 12443844 12443844 single base substitution A G intron_variant MELA-AU 3 12444231 12444231 single base substitution G A intron_variant MELA-AU 3 12444258 12444258 single base substitution C T intron_variant MELA-AU 3 12444281 12444281 single base substitution G A intron_variant MELA-AU 3 12444284 12444284 single base substitution A G intron_variant MELA-AU 3 12444325 12444325 single base substitution C T intron_variant MELA-AU 3 12444333 12444333 single base substitution C T intron_variant MELA-AU 3 12444540 12444540 single base substitution C T intron_variant MELA-AU 3 12444619 12444619 single base substitution C T intron_variant MELA-AU 3 12444826 12444826 single base substitution T C intron_variant MELA-AU 3 12444983 12444983 single base substitution G A intron_variant MELA-AU 3 12445112 12445112 single base substitution C T intron_variant MELA-AU 3 12445417 12445417 single base substitution C T intron_variant MELA-AU 3 12445481 12445481 single base substitution C T intron_variant MELA-AU 3 12446005 12446005 single base substitution T C intron_variant MELA-AU 3 12446035 12446035 single base substitution G A intron_variant MELA-AU 3 12446652 12446652 single base substitution T C intron_variant MELA-AU 3 12446675 12446675 single base substitution C T intron_variant MELA-AU 3 12446838 12446838 single base substitution C T intron_variant MELA-AU 3 12447299 12447299 single base substitution G A intron_variant MELA-AU 3 12447350 12447350 single base substitution G A intron_variant MELA-AU 3 12447415 12447415 single base substitution G A 3_prime_UTR_variant MELA-AU 3 12447415 12447415 single base substitution G A exon_variant MELA-AU 3 12447415 12447415 single base substitution G A synonymous_variant K188K 564G>A MELA-AU 3 12447415 12447415 single base substitution G A synonymous_variant K190K 570G>A MELA-AU 3 12447415 12447415 single base substitution G A synonymous_variant K196K 588G>A MELA-AU 3 12447415 12447415 single base substitution G A synonymous_variant K218K 654G>A MELA-AU 3 12447481 12447481 single base substitution G A 3_prime_UTR_variant MELA-AU 3 12447481 12447481 single base substitution G A exon_variant MELA-AU 3 12447481 12447481 single base substitution G A synonymous_variant R210R 630G>A MELA-AU 3 12447481 12447481 single base substitution G A synonymous_variant R212R 636G>A MELA-AU 3 12447481 12447481 single base substitution G A synonymous_variant R218R 654G>A MELA-AU 3 12447481 12447481 single base substitution G A synonymous_variant R240R 720G>A MELA-AU 3 12447484 12447485 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 3 12447484 12447485 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 3 12447484 12447485 multiple base substitution (>=2bp and <=200bp) CC TT synonymous_variant AL211 MELA-AU 3 12447484 12447485 multiple base substitution (>=2bp and <=200bp) CC TT synonymous_variant AL213 MELA-AU 3 12447484 12447485 multiple base substitution (>=2bp and <=200bp) CC TT synonymous_variant AL219 MELA-AU 3 12447484 12447485 multiple base substitution (>=2bp and <=200bp) CC TT synonymous_variant AL241 MELA-AU 3 12447778 12447778 single base substitution G A exon_variant MELA-AU 3 12447778 12447778 single base substitution G A intron_variant MELA-AU 3 12448064 12448064 single base substitution C T exon_variant MELA-AU 3 12448064 12448064 single base substitution C T intron_variant MELA-AU 3 12448148 12448148 single base substitution C T exon_variant MELA-AU 3 12448148 12448148 single base substitution C T intron_variant MELA-AU 3 12448350 12448350 single base substitution C T downstream_gene_variant MELA-AU 3 12448350 12448350 single base substitution C T intron_variant MELA-AU 3 12448480 12448480 single base substitution A C downstream_gene_variant MELA-AU 3 12448480 12448480 single base substitution A C intron_variant MELA-AU 3 12448523 12448523 single base substitution C T downstream_gene_variant MELA-AU 3 12448523 12448523 single base substitution C T intron_variant MELA-AU 3 12448882 12448882 single base substitution G A downstream_gene_variant MELA-AU 3 12448882 12448882 single base substitution G A intron_variant MELA-AU 3 12448957 12448957 single base substitution G A downstream_gene_variant MELA-AU 3 12448957 12448957 single base substitution G A intron_variant MELA-AU 3 12449070 12449070 single base substitution G A downstream_gene_variant MELA-AU 3 12449070 12449070 single base substitution G A intron_variant MELA-AU 3 12449266 12449267 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 3 12449266 12449267 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 3 12449371 12449371 single base substitution G A downstream_gene_variant MELA-AU 3 12449371 12449371 single base substitution G A intron_variant MELA-AU 3 12449419 12449419 single base substitution C T downstream_gene_variant MELA-AU 3 12449419 12449419 single base substitution C T intron_variant MELA-AU 3 12449486 12449486 single base substitution C T downstream_gene_variant MELA-AU 3 12449486 12449486 single base substitution C T intron_variant MELA-AU 3 12449710 12449710 single base substitution T A downstream_gene_variant MELA-AU 3 12449710 12449710 single base substitution T A intron_variant MELA-AU 3 12449818 12449818 single base substitution C A downstream_gene_variant MELA-AU 3 12449818 12449818 single base substitution C A intron_variant MELA-AU 3 12450117 12450117 single base substitution G A downstream_gene_variant MELA-AU 3 12450117 12450117 single base substitution G A intron_variant MELA-AU 3 12450414 12450414 single base substitution G A downstream_gene_variant MELA-AU 3 12450414 12450414 single base substitution G A intron_variant MELA-AU 3 12450797 12450797 single base substitution T A downstream_gene_variant MELA-AU 3 12450797 12450797 single base substitution T A intron_variant MELA-AU 3 12450918 12450918 single base substitution A G downstream_gene_variant MELA-AU 3 12450918 12450918 single base substitution A G intron_variant MELA-AU 3 12450948 12450948 single base substitution G A downstream_gene_variant MELA-AU 3 12450948 12450948 single base substitution G A intron_variant MELA-AU 3 12451425 12451425 single base substitution G A downstream_gene_variant MELA-AU 3 12451425 12451425 single base substitution G A intron_variant MELA-AU 3 12451551 12451551 single base substitution G A downstream_gene_variant MELA-AU 3 12451551 12451551 single base substitution G A intron_variant MELA-AU 3 12451571 12451572 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 12451571 12451572 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 12451587 12451587 single base substitution G A downstream_gene_variant MELA-AU 3 12451587 12451587 single base substitution G A intron_variant MELA-AU 3 12451592 12451592 single base substitution C T downstream_gene_variant MELA-AU 3 12451592 12451592 single base substitution C T intron_variant MELA-AU 3 12451611 12451611 single base substitution G A downstream_gene_variant MELA-AU 3 12451611 12451611 single base substitution G A intron_variant MELA-AU 3 12451645 12451645 single base substitution C T downstream_gene_variant MELA-AU 3 12451645 12451645 single base substitution C T intron_variant MELA-AU 3 12451657 12451657 single base substitution G A downstream_gene_variant MELA-AU 3 12451657 12451657 single base substitution G A intron_variant MELA-AU 3 12451687 12451688 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 12451687 12451688 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 12451688 12451689 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 12451688 12451689 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 12452012 12452012 single base substitution G A downstream_gene_variant MELA-AU 3 12452012 12452012 single base substitution G A intron_variant MELA-AU 3 12452252 12452252 single base substitution C T downstream_gene_variant MELA-AU 3 12452252 12452252 single base substitution C T intron_variant MELA-AU 3 12452381 12452381 single base substitution C T downstream_gene_variant MELA-AU 3 12452381 12452381 single base substitution C T intron_variant MELA-AU 3 12452461 12452461 single base substitution G A downstream_gene_variant MELA-AU 3 12452461 12452461 single base substitution G A intron_variant MELA-AU 3 12452509 12452509 single base substitution C T downstream_gene_variant MELA-AU 3 12452509 12452509 single base substitution C T intron_variant MELA-AU 3 12452526 12452526 single base substitution G A downstream_gene_variant MELA-AU 3 12452526 12452526 single base substitution G A intron_variant MELA-AU 3 12452655 12452655 single base substitution A G downstream_gene_variant MELA-AU 3 12452655 12452655 single base substitution A G intron_variant MELA-AU 3 12452996 12452996 single base substitution G A downstream_gene_variant MELA-AU 3 12452996 12452996 single base substitution G A intron_variant MELA-AU 3 12453045 12453045 single base substitution A G downstream_gene_variant MELA-AU 3 12453045 12453045 single base substitution A G intron_variant MELA-AU 3 12453059 12453059 single base substitution G A downstream_gene_variant MELA-AU 3 12453059 12453059 single base substitution G A intron_variant MELA-AU 3 12453182 12453182 single base substitution C T downstream_gene_variant MELA-AU 3 12453182 12453182 single base substitution C T intron_variant MELA-AU 3 12453232 12453232 single base substitution C T downstream_gene_variant MELA-AU 3 12453232 12453232 single base substitution C T intron_variant MELA-AU 3 12453292 12453292 single base substitution G A downstream_gene_variant MELA-AU 3 12453292 12453292 single base substitution G A intron_variant MELA-AU 3 12453364 12453364 single base substitution G A intron_variant MELA-AU 3 12453414 12453414 single base substitution G A intron_variant MELA-AU 3 12453439 12453439 single base substitution C T intron_variant MELA-AU 3 12453466 12453466 single base substitution G A intron_variant MELA-AU 3 12453626 12453626 single base substitution C T intron_variant MELA-AU 3 12453637 12453637 single base substitution C T intron_variant MELA-AU 3 12453661 12453661 single base substitution C T intron_variant MELA-AU 3 12453744 12453744 single base substitution G A intron_variant MELA-AU 3 12453805 12453805 single base substitution C T intron_variant MELA-AU 3 12454023 12454023 single base substitution C T intron_variant MELA-AU 3 12454196 12454196 single base substitution C A intron_variant MELA-AU 3 12454230 12454231 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 12454274 12454274 single base substitution G A intron_variant MELA-AU 3 12454355 12454355 single base substitution C T intron_variant MELA-AU 3 12455187 12455187 single base substitution T G intron_variant MELA-AU 3 12455202 12455202 single base substitution C T intron_variant MELA-AU 3 12455218 12455218 single base substitution C T intron_variant MELA-AU 3 12455547 12455547 single base substitution G A intron_variant MELA-AU 3 12455578 12455578 single base substitution T A intron_variant MELA-AU 3 12455698 12455698 single base substitution C A intron_variant MELA-AU 3 12455732 12455732 single base substitution G A intron_variant MELA-AU 3 12455892 12455892 single base substitution G A intron_variant MELA-AU 3 12456120 12456120 single base substitution G A intron_variant MELA-AU 3 12456248 12456248 single base substitution A G intron_variant MELA-AU 3 12456277 12456277 single base substitution C T intron_variant MELA-AU 3 12456430 12456433 deletion of <=200bp ACAA - intron_variant MELA-AU 3 12456486 12456486 single base substitution C T intron_variant MELA-AU 3 12456525 12456525 single base substitution G A intron_variant MELA-AU 3 12456760 12456760 single base substitution C T intron_variant MELA-AU 3 12456946 12456946 single base substitution C T intron_variant MELA-AU 3 12457787 12457787 single base substitution A C intron_variant MELA-AU 3 12458047 12458047 single base substitution G A intron_variant MELA-AU 3 12458186 12458186 single base substitution C T intron_variant MELA-AU 3 12458442 12458442 single base substitution C T 3_prime_UTR_variant MELA-AU 3 12458442 12458442 single base substitution C T intron_variant MELA-AU 3 12458442 12458442 single base substitution C T synonymous_variant I325I 975C>T MELA-AU 3 12458442 12458442 single base substitution C T synonymous_variant I331I 993C>T MELA-AU 3 12458442 12458442 single base substitution C T synonymous_variant I353I 1059C>T MELA-AU 3 12458462 12458462 single base substitution C T 3_prime_UTR_variant MELA-AU 3 12458462 12458462 single base substitution C T intron_variant MELA-AU 3 12458462 12458462 single base substitution C T missense_variant S332F 995C>T MELA-AU 3 12458462 12458462 single base substitution C T missense_variant S338F 1013C>T MELA-AU 3 12458462 12458462 single base substitution C T missense_variant S360F 1079C>T MELA-AU 3 12458542 12458542 single base substitution C T 3_prime_UTR_variant MELA-AU 3 12458542 12458542 single base substitution C T intron_variant MELA-AU 3 12458542 12458542 single base substitution C T missense_variant P359S 1075C>T MELA-AU 3 12458542 12458542 single base substitution C T missense_variant P365S 1093C>T MELA-AU 3 12458542 12458542 single base substitution C T missense_variant P387S 1159C>T MELA-AU 3 12458721 12458721 single base substitution G A downstream_gene_variant MELA-AU 3 12458721 12458721 single base substitution G A intron_variant MELA-AU 3 12458727 12458727 single base substitution C T downstream_gene_variant MELA-AU 3 12458727 12458727 single base substitution C T intron_variant MELA-AU 3 12458913 12458913 single base substitution C T downstream_gene_variant MELA-AU 3 12458913 12458913 single base substitution C T intron_variant MELA-AU 3 12458936 12458936 single base substitution C T downstream_gene_variant MELA-AU 3 12458936 12458936 single base substitution C T intron_variant MELA-AU 3 12458953 12458953 single base substitution C T downstream_gene_variant MELA-AU 3 12458953 12458953 single base substitution C T intron_variant MELA-AU 3 12459341 12459341 single base substitution C T downstream_gene_variant MELA-AU 3 12459341 12459341 single base substitution C T intron_variant MELA-AU 3 12460023 12460023 single base substitution C T downstream_gene_variant MELA-AU 3 12460023 12460023 single base substitution C T intron_variant MELA-AU 3 12460365 12460365 single base substitution G A downstream_gene_variant MELA-AU 3 12460365 12460365 single base substitution G A intron_variant MELA-AU 3 12460495 12460495 single base substitution G A downstream_gene_variant MELA-AU 3 12460495 12460495 single base substitution G A intron_variant MELA-AU 3 12460545 12460545 single base substitution G A downstream_gene_variant MELA-AU 3 12460545 12460545 single base substitution G A intron_variant MELA-AU 3 12460553 12460554 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 12460553 12460554 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 12460702 12460702 single base substitution C T downstream_gene_variant MELA-AU 3 12460702 12460702 single base substitution C T intron_variant MELA-AU 3 12460832 12460832 single base substitution C T downstream_gene_variant MELA-AU 3 12460832 12460832 single base substitution C T intron_variant MELA-AU 3 12460843 12460843 single base substitution G A downstream_gene_variant MELA-AU 3 12460843 12460843 single base substitution G A intron_variant MELA-AU 3 12461077 12461077 single base substitution C T downstream_gene_variant MELA-AU 3 12461077 12461077 single base substitution C T intron_variant MELA-AU 3 12461311 12461311 single base substitution G A downstream_gene_variant MELA-AU 3 12461311 12461311 single base substitution G A intron_variant MELA-AU 3 12461369 12461369 single base substitution C T downstream_gene_variant MELA-AU 3 12461369 12461369 single base substitution C T intron_variant MELA-AU 3 12461518 12461518 single base substitution C T downstream_gene_variant MELA-AU 3 12461518 12461518 single base substitution C T intron_variant MELA-AU 3 12461750 12461750 single base substitution G C downstream_gene_variant MELA-AU 3 12461750 12461750 single base substitution G C intron_variant MELA-AU 3 12462135 12462135 single base substitution G A downstream_gene_variant MELA-AU 3 12462135 12462135 single base substitution G A intron_variant MELA-AU 3 12462174 12462174 single base substitution G A downstream_gene_variant MELA-AU 3 12462174 12462174 single base substitution G A intron_variant MELA-AU 3 12462227 12462227 single base substitution G A downstream_gene_variant MELA-AU 3 12462227 12462227 single base substitution G A intron_variant MELA-AU 3 12462507 12462507 single base substitution C T downstream_gene_variant MELA-AU 3 12462507 12462507 single base substitution C T intron_variant MELA-AU 3 12462734 12462734 single base substitution C T downstream_gene_variant MELA-AU 3 12462734 12462734 single base substitution C T intron_variant MELA-AU 3 12463139 12463139 single base substitution C T downstream_gene_variant MELA-AU 3 12463139 12463139 single base substitution C T intron_variant MELA-AU 3 12463278 12463278 single base substitution C T downstream_gene_variant MELA-AU 3 12463278 12463278 single base substitution C T intron_variant MELA-AU 3 12463341 12463341 single base substitution T A downstream_gene_variant MELA-AU 3 12463341 12463341 single base substitution T A intron_variant MELA-AU 3 12463436 12463436 single base substitution G A downstream_gene_variant MELA-AU 3 12463436 12463436 single base substitution G A intron_variant MELA-AU 3 12463495 12463495 single base substitution G A downstream_gene_variant MELA-AU 3 12463495 12463495 single base substitution G A intron_variant MELA-AU 3 12463538 12463538 single base substitution G A downstream_gene_variant MELA-AU 3 12463538 12463538 single base substitution G A intron_variant MELA-AU 3 12464024 12464024 single base substitution G A intron_variant MELA-AU 3 12464182 12464182 single base substitution C T intron_variant MELA-AU 3 12464233 12464233 single base substitution G A intron_variant MELA-AU 3 12464325 12464325 single base substitution G A intron_variant MELA-AU 3 12464504 12464504 single base substitution G A intron_variant MELA-AU 3 12464764 12464764 single base substitution C T intron_variant MELA-AU 3 12464922 12464922 single base substitution C T intron_variant MELA-AU 3 12465317 12465317 single base substitution C T intron_variant MELA-AU 3 12465377 12465377 single base substitution G A intron_variant MELA-AU 3 12465457 12465457 single base substitution G A intron_variant MELA-AU 3 12465838 12465838 single base substitution C T intron_variant MELA-AU 3 12466002 12466002 single base substitution G A intron_variant MELA-AU 3 12466003 12466003 single base substitution G A intron_variant MELA-AU 3 12466105 12466105 single base substitution C T intron_variant MELA-AU 3 12466608 12466608 single base substitution G A intron_variant MELA-AU 3 12466716 12466716 single base substitution G A intron_variant MELA-AU 3 12466761 12466761 single base substitution G A intron_variant MELA-AU 3 12466875 12466875 single base substitution G A intron_variant MELA-AU 3 12466920 12466920 single base substitution C T intron_variant MELA-AU 3 12466972 12466972 single base substitution C T intron_variant MELA-AU 3 12467005 12467005 single base substitution C T intron_variant MELA-AU 3 12467090 12467090 single base substitution G A intron_variant MELA-AU 3 12467123 12467123 single base substitution C T intron_variant MELA-AU 3 12467133 12467133 single base substitution C T intron_variant MELA-AU 3 12467163 12467163 single base substitution C T intron_variant MELA-AU 3 12467251 12467251 single base substitution G A intron_variant MELA-AU 3 12467271 12467271 single base substitution G A intron_variant MELA-AU 3 12467291 12467291 single base substitution C T intron_variant MELA-AU 3 12467345 12467345 single base substitution G A intron_variant MELA-AU 3 12467548 12467548 single base substitution G A intron_variant MELA-AU 3 12467592 12467592 single base substitution C T intron_variant MELA-AU 3 12467651 12467651 single base substitution C T intron_variant MELA-AU 3 12467878 12467878 single base substitution C T intron_variant MELA-AU 3 12468098 12468098 single base substitution G A intron_variant MELA-AU 3 12468252 12468252 single base substitution C T intron_variant MELA-AU 3 12468512 12468512 single base substitution C T intron_variant MELA-AU 3 12468711 12468711 insertion of <=200bp - TTCCGTTTAGGCCCACTGTGATTCTGATGG intron_variant MELA-AU 3 12468995 12468995 single base substitution C T intron_variant MELA-AU 3 12469208 12469208 single base substitution C T intron_variant MELA-AU 3 12469276 12469276 single base substitution G A intron_variant MELA-AU 3 12469484 12469484 single base substitution G A intron_variant MELA-AU 3 12469614 12469614 single base substitution C T intron_variant MELA-AU 3 12469829 12469829 single base substitution G A intron_variant MELA-AU 3 12470050 12470050 single base substitution G A intron_variant MELA-AU 3 12470419 12470419 single base substitution C T intron_variant MELA-AU 3 12470587 12470587 single base substitution G A intron_variant MELA-AU 3 12470661 12470661 single base substitution C T intron_variant MELA-AU 3 12470709 12470709 single base substitution C T intron_variant MELA-AU 3 12470746 12470746 single base substitution C T intron_variant MELA-AU 3 12470827 12470827 single base substitution C T intron_variant MELA-AU 3 12470940 12470940 single base substitution G A intron_variant MELA-AU 3 12470998 12470998 single base substitution C T intron_variant MELA-AU 3 12471133 12471133 single base substitution G A intron_variant MELA-AU 3 12471350 12471350 single base substitution C T intron_variant MELA-AU 3 12471532 12471532 single base substitution C T intron_variant MELA-AU 3 12472094 12472094 single base substitution C T intron_variant MELA-AU 3 12472168 12472168 single base substitution G A intron_variant MELA-AU 3 12472469 12472469 single base substitution G A intron_variant MELA-AU 3 12472527 12472527 single base substitution G A intron_variant MELA-AU 3 12472852 12472852 single base substitution G A intron_variant MELA-AU 3 12473266 12473266 single base substitution C T intron_variant MELA-AU 3 12473285 12473285 single base substitution C T intron_variant MELA-AU 3 12473410 12473410 single base substitution C G intron_variant MELA-AU 3 12473948 12473948 single base substitution C T intron_variant MELA-AU 3 12474060 12474060 single base substitution C T intron_variant MELA-AU 3 12474115 12474115 single base substitution C T intron_variant MELA-AU 3 12474797 12474797 single base substitution G A intron_variant MELA-AU 3 12475114 12475114 single base substitution G A intron_variant MELA-AU 3 12475340 12475340 single base substitution G A intron_variant MELA-AU 3 12475348 12475348 single base substitution G A intron_variant MELA-AU 3 12475396 12475396 single base substitution G A splice_acceptor_variant MELA-AU 3 12475749 12475749 single base substitution G A 3_prime_UTR_variant MELA-AU 3 12475749 12475749 single base substitution G A downstream_gene_variant MELA-AU 3 12475920 12475920 single base substitution C T downstream_gene_variant MELA-AU 3 12475942 12475942 single base substitution C T downstream_gene_variant MELA-AU 3 12475983 12475983 single base substitution C T downstream_gene_variant MELA-AU 3 12475989 12475989 insertion of <=200bp - T downstream_gene_variant MELA-AU 3 12476082 12476082 single base substitution A G downstream_gene_variant MELA-AU 3 12476089 12476090 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 12476246 12476246 single base substitution G A downstream_gene_variant MELA-AU 3 12476410 12476410 single base substitution C T downstream_gene_variant MELA-AU 3 12476417 12476417 single base substitution C T downstream_gene_variant MELA-AU 3 12476418 12476418 single base substitution C T downstream_gene_variant MELA-AU 3 12476627 12476627 single base substitution C T downstream_gene_variant MELA-AU 3 12476729 12476729 single base substitution C T downstream_gene_variant MELA-AU 3 12476905 12476905 single base substitution G A downstream_gene_variant MELA-AU 3 12477237 12477237 single base substitution C T downstream_gene_variant MELA-AU 3 12477800 12477800 single base substitution G A downstream_gene_variant MELA-AU 3 12478219 12478219 single base substitution C T downstream_gene_variant MELA-AU 3 12478333 12478333 single base substitution G A downstream_gene_variant MELA-AU 3 12478337 12478337 single base substitution C T downstream_gene_variant MELA-AU 3 12478386 12478386 single base substitution G A downstream_gene_variant MELA-AU 3 12478500 12478500 single base substitution C T downstream_gene_variant MELA-AU 3 12478601 12478601 single base substitution G A downstream_gene_variant MELA-AU 3 12478712 12478712 single base substitution A G downstream_gene_variant MELA-AU 3 12479074 12479074 single base substitution C T downstream_gene_variant MELA-AU 3 12479104 12479104 single base substitution T A downstream_gene_variant MELA-AU 3 12479255 12479255 single base substitution C T downstream_gene_variant MELA-AU 3 12479859 12479859 single base substitution A G downstream_gene_variant MELA-AU 3 12480041 12480041 single base substitution C T downstream_gene_variant MELA-AU 3 12480097 12480097 single base substitution C T downstream_gene_variant MELA-AU 3 12480104 12480104 single base substitution C T downstream_gene_variant MELA-AU 3 12480236 12480236 single base substitution C T downstream_gene_variant MELA-AU 3 12480496 12480496 single base substitution G A downstream_gene_variant ORCA-IN 3 12337221 12337221 single base substitution C T intron_variant ORCA-IN 3 12356715 12356715 single base substitution C T intron_variant ORCA-IN 3 12373993 12373993 single base substitution G C intron_variant ORCA-IN 3 12384728 12384728 single base substitution C A intron_variant ORCA-IN 3 12405390 12405390 single base substitution A C intron_variant ORCA-IN 3 12469471 12469471 single base substitution G A intron_variant OV-AU 3 12325846 12325846 single base substitution G A upstream_gene_variant OV-AU 3 12326765 12326765 single base substitution C G upstream_gene_variant OV-AU 3 12339196 12339196 single base substitution G T intron_variant OV-AU 3 12341353 12341353 single base substitution A G intron_variant OV-AU 3 12342725 12342725 single base substitution G A intron_variant OV-AU 3 12342725 12342725 single base substitution G A upstream_gene_variant OV-AU 3 12350936 12350936 single base substitution T C intron_variant OV-AU 3 12350936 12350936 single base substitution T C upstream_gene_variant OV-AU 3 12354376 12354376 single base substitution T C intron_variant OV-AU 3 12361349 12361349 single base substitution A G intron_variant OV-AU 3 12362251 12362251 single base substitution C T intron_variant OV-AU 3 12373902 12373902 single base substitution A T intron_variant OV-AU 3 12383091 12383091 single base substitution G T intron_variant OV-AU 3 12384481 12384481 single base substitution G T intron_variant OV-AU 3 12389480 12389480 single base substitution A G intron_variant OV-AU 3 12389480 12389480 single base substitution A G upstream_gene_variant OV-AU 3 12400209 12400209 single base substitution G T intron_variant OV-AU 3 12402421 12402421 single base substitution T A intron_variant OV-AU 3 12405641 12405641 single base substitution C A intron_variant OV-AU 3 12406088 12406088 single base substitution G T intron_variant OV-AU 3 12415380 12415380 single base substitution C G intron_variant OV-AU 3 12415898 12415898 single base substitution G C intron_variant OV-AU 3 12415910 12415910 single base substitution C T intron_variant OV-AU 3 12420271 12420271 single base substitution A G intron_variant OV-AU 3 12420271 12420271 single base substitution A G upstream_gene_variant OV-AU 3 12425398 12425398 single base substitution G A downstream_gene_variant OV-AU 3 12425398 12425398 single base substitution G A intron_variant OV-AU 3 12432231 12432231 single base substitution C A intron_variant OV-AU 3 12438575 12438575 single base substitution T G intron_variant OV-AU 3 12440690 12440690 single base substitution G C intron_variant OV-AU 3 12441254 12441254 single base substitution C T intron_variant OV-AU 3 12443038 12443038 single base substitution G C intron_variant OV-AU 3 12453727 12453727 single base substitution G T intron_variant OV-AU 3 12457444 12457444 single base substitution A T intron_variant OV-AU 3 12459225 12459225 single base substitution G T downstream_gene_variant OV-AU 3 12459225 12459225 single base substitution G T intron_variant OV-AU 3 12461772 12461772 single base substitution C T downstream_gene_variant OV-AU 3 12461772 12461772 single base substitution C T intron_variant OV-AU 3 12465252 12465252 single base substitution C A intron_variant OV-AU 3 12468659 12468659 single base substitution G T intron_variant OV-AU 3 12468729 12468729 single base substitution C T intron_variant OV-AU 3 12473923 12473923 single base substitution T A intron_variant OV-AU 3 12475641 12475641 single base substitution C G 3_prime_UTR_variant OV-AU 3 12475641 12475641 single base substitution C G stop_gained Y477* 1431C>G OV-AU 3 12475641 12475641 single base substitution C G stop_gained Y483* 1449C>G OV-AU 3 12475641 12475641 single base substitution C G stop_gained Y505* 1515C>G OV-AU 3 12476534 12476534 single base substitution C A downstream_gene_variant OV-AU 3 12476535 12476535 single base substitution A G downstream_gene_variant OV-AU 3 12478187 12478187 single base substitution G C downstream_gene_variant OV-AU 3 12479663 12479663 single base substitution C G downstream_gene_variant OV-US 3 12458478 12458478 single base substitution T C 3_prime_UTR_variant OV-US 3 12458478 12458478 single base substitution T C intron_variant OV-US 3 12458478 12458478 single base substitution T C synonymous_variant D337D 1011T>C OV-US 3 12458478 12458478 single base substitution T C synonymous_variant D343D 1029T>C OV-US 3 12458478 12458478 single base substitution T C synonymous_variant D365D 1095T>C PACA-AU 3 12327672 12327672 single base substitution A C upstream_gene_variant PACA-AU 3 12338318 12338318 single base substitution G T intron_variant PACA-AU 3 12344949 12344949 single base substitution C T intron_variant PACA-AU 3 12344949 12344949 single base substitution C T upstream_gene_variant PACA-AU 3 12355513 12355513 single base substitution C T intron_variant PACA-AU 3 12359287 12359287 insertion of <=200bp - ATATTA intron_variant PACA-AU 3 12359797 12359814 deletion of <=200bp ATGTCAAATTTAAATAAA - intron_variant PACA-AU 3 12364198 12364198 single base substitution T C intron_variant PACA-AU 3 12367330 12367333 deletion of <=200bp TGAC - intron_variant PACA-AU 3 12368130 12368130 single base substitution T A intron_variant PACA-AU 3 12368849 12368849 single base substitution A G intron_variant PACA-AU 3 12376634 12376634 single base substitution T C intron_variant PACA-AU 3 12382732 12382732 single base substitution G A intron_variant PACA-AU 3 12387281 12387281 single base substitution C T intron_variant PACA-AU 3 12394586 12394586 single base substitution A T intron_variant PACA-AU 3 12403466 12403466 single base substitution C T intron_variant PACA-AU 3 12404020 12404020 insertion of <=200bp - AAATAAAT intron_variant PACA-AU 3 12404020 12404020 insertion of <=200bp - AAAT intron_variant PACA-AU 3 12417779 12417779 single base substitution C T intron_variant PACA-AU 3 12417779 12417779 single base substitution C T upstream_gene_variant PACA-AU 3 12427128 12427128 single base substitution A G downstream_gene_variant PACA-AU 3 12427128 12427128 single base substitution A G intron_variant PACA-AU 3 12434182 12434182 deletion of <=200bp A - 3_prime_UTR_variant PACA-AU 3 12434182 12434182 deletion of <=200bp A - exon_variant PACA-AU 3 12434182 12434182 deletion of <=200bp A - frameshift_variant K154 PACA-AU 3 12434182 12434182 deletion of <=200bp A - frameshift_variant K156 PACA-AU 3 12434182 12434182 deletion of <=200bp A - frameshift_variant K162 PACA-AU 3 12434182 12434182 deletion of <=200bp A - frameshift_variant K184 PACA-AU 3 12435328 12435328 single base substitution T C intron_variant PACA-AU 3 12437504 12437504 single base substitution T G intron_variant PACA-AU 3 12446271 12446271 single base substitution C A intron_variant PACA-AU 3 12453035 12453035 insertion of <=200bp - T downstream_gene_variant PACA-AU 3 12453035 12453035 insertion of <=200bp - T intron_variant PACA-AU 3 12466250 12466250 single base substitution C T intron_variant PACA-AU 3 12469695 12469695 single base substitution A G intron_variant PACA-AU 3 12471785 12471785 single base substitution C A intron_variant PACA-AU 3 12473285 12473285 single base substitution C T intron_variant PACA-AU 3 12475047 12475047 single base substitution A G intron_variant PACA-CA 3 12327069 12327069 single base substitution A T upstream_gene_variant PACA-CA 3 12327493 12327493 single base substitution C A upstream_gene_variant PACA-CA 3 12333871 12333871 single base substitution C A intron_variant PACA-CA 3 12339886 12339886 insertion of <=200bp - TA intron_variant PACA-CA 3 12342879 12342879 single base substitution C A intron_variant PACA-CA 3 12342879 12342879 single base substitution C A upstream_gene_variant PACA-CA 3 12345431 12345431 single base substitution T C intron_variant PACA-CA 3 12345431 12345431 single base substitution T C upstream_gene_variant PACA-CA 3 12346912 12346912 insertion of <=200bp - AC intron_variant PACA-CA 3 12346912 12346912 insertion of <=200bp - AC upstream_gene_variant PACA-CA 3 12346917 12346917 deletion of <=200bp G - intron_variant PACA-CA 3 12346917 12346917 deletion of <=200bp G - upstream_gene_variant PACA-CA 3 12347173 12347173 insertion of <=200bp - C intron_variant PACA-CA 3 12347173 12347173 insertion of <=200bp - C upstream_gene_variant PACA-CA 3 12347880 12347880 single base substitution G A intron_variant PACA-CA 3 12352604 12352604 single base substitution A T intron_variant PACA-CA 3 12352604 12352604 single base substitution A T upstream_gene_variant PACA-CA 3 12358230 12358230 insertion of <=200bp - A intron_variant PACA-CA 3 12362673 12362673 single base substitution C T intron_variant PACA-CA 3 12368482 12368482 single base substitution T C intron_variant PACA-CA 3 12375184 12375184 single base substitution C T intron_variant PACA-CA 3 12376926 12376926 single base substitution T A intron_variant PACA-CA 3 12377817 12377817 single base substitution A G intron_variant PACA-CA 3 12380958 12380958 single base substitution T C intron_variant PACA-CA 3 12381518 12381518 single base substitution A C intron_variant PACA-CA 3 12381793 12381793 single base substitution A G intron_variant PACA-CA 3 12395126 12395126 single base substitution A T intron_variant PACA-CA 3 12395380 12395380 single base substitution C T intron_variant PACA-CA 3 12396071 12396071 single base substitution T C intron_variant PACA-CA 3 12401741 12401741 single base substitution C A intron_variant PACA-CA 3 12408781 12408781 single base substitution A G intron_variant PACA-CA 3 12409120 12409120 single base substitution G T intron_variant PACA-CA 3 12409506 12409506 single base substitution A T intron_variant PACA-CA 3 12414112 12414116 deletion of <=200bp CTTTT - intron_variant PACA-CA 3 12414719 12414719 single base substitution T C intron_variant PACA-CA 3 12427920 12427920 single base substitution T C downstream_gene_variant PACA-CA 3 12427920 12427920 single base substitution T C intron_variant PACA-CA 3 12430458 12430458 single base substitution T C intron_variant PACA-CA 3 12431626 12431626 single base substitution A G intron_variant PACA-CA 3 12434923 12434923 single base substitution A C intron_variant PACA-CA 3 12438677 12438677 single base substitution T A intron_variant PACA-CA 3 12441681 12441681 single base substitution T C intron_variant PACA-CA 3 12442213 12442213 insertion of <=200bp - A intron_variant PACA-CA 3 12442554 12442554 single base substitution G A intron_variant PACA-CA 3 12446540 12446540 single base substitution T C intron_variant PACA-CA 3 12446985 12446985 single base substitution G C intron_variant PACA-CA 3 12447718 12447718 single base substitution G A exon_variant PACA-CA 3 12447718 12447718 single base substitution G A intron_variant PACA-CA 3 12452020 12452020 single base substitution G T downstream_gene_variant PACA-CA 3 12452020 12452020 single base substitution G T intron_variant PACA-CA 3 12452273 12452273 single base substitution C T downstream_gene_variant PACA-CA 3 12452273 12452273 single base substitution C T intron_variant PACA-CA 3 12452724 12452724 single base substitution C T downstream_gene_variant PACA-CA 3 12452724 12452724 single base substitution C T intron_variant PACA-CA 3 12454374 12454374 single base substitution C T intron_variant PACA-CA 3 12455581 12455581 single base substitution A T intron_variant PACA-CA 3 12456314 12456314 single base substitution G A intron_variant PACA-CA 3 12463213 12463213 single base substitution C T downstream_gene_variant PACA-CA 3 12463213 12463213 single base substitution C T intron_variant PACA-CA 3 12466336 12466336 single base substitution T G intron_variant PACA-CA 3 12473673 12473673 single base substitution G A intron_variant PACA-CA 3 12475550 12475550 single base substitution C T 3_prime_UTR_variant PACA-CA 3 12475550 12475550 single base substitution C T missense_variant T447M 1340C>T PACA-CA 3 12475550 12475550 single base substitution C T missense_variant T453M 1358C>T PACA-CA 3 12475550 12475550 single base substitution C T missense_variant T475M 1424C>T PACA-CA 3 12475607 12475607 single base substitution A C 3_prime_UTR_variant PACA-CA 3 12475607 12475607 single base substitution A C missense_variant H466P 1397A>C PACA-CA 3 12475607 12475607 single base substitution A C missense_variant H472P 1415A>C PACA-CA 3 12475607 12475607 single base substitution A C missense_variant H494P 1481A>C PAEN-AU 3 12335328 12335328 single base substitution C A intron_variant PAEN-AU 3 12347606 12347606 single base substitution C T intron_variant PAEN-AU 3 12351275 12351275 single base substitution G T intron_variant PAEN-AU 3 12351275 12351275 single base substitution G T upstream_gene_variant PAEN-AU 3 12405036 12405036 single base substitution C G intron_variant PAEN-AU 3 12447895 12447895 single base substitution C T exon_variant PAEN-AU 3 12447895 12447895 single base substitution C T intron_variant PAEN-IT 3 12357542 12357542 single base substitution A G intron_variant PAEN-IT 3 12418543 12418543 single base substitution C G intron_variant PAEN-IT 3 12418543 12418543 single base substitution C G upstream_gene_variant PAEN-IT 3 12456428 12456428 single base substitution G T intron_variant PBCA-DE 3 12325304 12325304 single base substitution G A upstream_gene_variant PBCA-DE 3 12334814 12334814 single base substitution T A intron_variant PBCA-DE 3 12335341 12335341 single base substitution A T intron_variant PBCA-DE 3 12339902 12339903 deletion of <=200bp AC - intron_variant PBCA-DE 3 12343959 12343959 single base substitution A G intron_variant PBCA-DE 3 12343959 12343959 single base substitution A G upstream_gene_variant PBCA-DE 3 12345853 12345854 deletion of <=200bp AC - intron_variant PBCA-DE 3 12345853 12345854 deletion of <=200bp AC - upstream_gene_variant PBCA-DE 3 12351810 12351810 single base substitution G T intron_variant PBCA-DE 3 12351810 12351810 single base substitution G T upstream_gene_variant PBCA-DE 3 12358229 12358229 single base substitution T A intron_variant PBCA-DE 3 12358230 12358230 single base substitution T A intron_variant PBCA-DE 3 12360573 12360573 single base substitution A T intron_variant PBCA-DE 3 12364476 12364476 insertion of <=200bp - T intron_variant PBCA-DE 3 12368232 12368232 deletion of <=200bp A - intron_variant PBCA-DE 3 12368327 12368327 single base substitution G A intron_variant PBCA-DE 3 12369745 12369745 single base substitution G A intron_variant PBCA-DE 3 12376600 12376600 single base substitution A G intron_variant PBCA-DE 3 12383883 12383883 single base substitution C A intron_variant PBCA-DE 3 12385357 12385357 single base substitution C A intron_variant PBCA-DE 3 12385364 12385364 single base substitution T G intron_variant PBCA-DE 3 12387332 12387332 single base substitution C T intron_variant PBCA-DE 3 12389614 12389614 single base substitution T G intron_variant PBCA-DE 3 12389614 12389614 single base substitution T G upstream_gene_variant PBCA-DE 3 12396984 12396984 single base substitution G A intron_variant PBCA-DE 3 12414112 12414112 insertion of <=200bp - CTTTT intron_variant PBCA-DE 3 12415162 12415162 deletion of <=200bp A - intron_variant PBCA-DE 3 12416745 12416746 deletion of <=200bp GA - intron_variant PBCA-DE 3 12416745 12416746 deletion of <=200bp GA - upstream_gene_variant PBCA-DE 3 12420516 12420516 insertion of <=200bp - T intron_variant PBCA-DE 3 12420516 12420516 insertion of <=200bp - T upstream_gene_variant PBCA-DE 3 12423416 12423416 insertion of <=200bp - TTTA downstream_gene_variant PBCA-DE 3 12423416 12423416 insertion of <=200bp - TTTA intron_variant PBCA-DE 3 12423732 12423732 single base substitution T A downstream_gene_variant PBCA-DE 3 12423732 12423732 single base substitution T A intron_variant PBCA-DE 3 12423896 12423896 single base substitution C A downstream_gene_variant PBCA-DE 3 12423896 12423896 single base substitution C A intron_variant PBCA-DE 3 12428033 12428033 single base substitution G T intron_variant PBCA-DE 3 12430535 12430535 single base substitution C T intron_variant PBCA-DE 3 12431401 12431401 insertion of <=200bp - A intron_variant PBCA-DE 3 12435950 12435950 single base substitution A T intron_variant PBCA-DE 3 12440652 12440658 deletion of <=200bp TTAAAGG - intron_variant PBCA-DE 3 12441500 12441500 single base substitution T A intron_variant PBCA-DE 3 12449391 12449391 insertion of <=200bp - A downstream_gene_variant PBCA-DE 3 12449391 12449391 insertion of <=200bp - A intron_variant PBCA-DE 3 12450918 12450918 single base substitution A G downstream_gene_variant PBCA-DE 3 12450918 12450918 single base substitution A G intron_variant PBCA-DE 3 12458305 12458305 single base substitution C T 3_prime_UTR_variant PBCA-DE 3 12458305 12458305 single base substitution C T intron_variant PBCA-DE 3 12458305 12458305 single base substitution C T missense_variant R280C 838C>T PBCA-DE 3 12458305 12458305 single base substitution C T missense_variant R286C 856C>T PBCA-DE 3 12458305 12458305 single base substitution C T missense_variant R308C 922C>T PBCA-DE 3 12466671 12466671 single base substitution G C intron_variant PBCA-DE 3 12470291 12470291 single base substitution G A intron_variant PBCA-DE 3 12480401 12480401 deletion of <=200bp C - downstream_gene_variant PRAD-CA 3 12367982 12367982 single base substitution T G intron_variant PRAD-CA 3 12378284 12378284 single base substitution G T intron_variant PRAD-CA 3 12413280 12413280 single base substitution A G intron_variant PRAD-CA 3 12413693 12413693 single base substitution C G intron_variant PRAD-CA 3 12414997 12414997 single base substitution T G intron_variant PRAD-CA 3 12436952 12436952 single base substitution T C intron_variant PRAD-CA 3 12471200 12471200 single base substitution C T intron_variant PRAD-CA 3 12479447 12479447 single base substitution G T downstream_gene_variant PRAD-UK 3 12330783 12330783 single base substitution C T intron_variant PRAD-UK 3 12332524 12332524 single base substitution T A intron_variant PRAD-UK 3 12346822 12346822 single base substitution A T intron_variant PRAD-UK 3 12346822 12346822 single base substitution A T upstream_gene_variant PRAD-UK 3 12348522 12348522 single base substitution G A intron_variant PRAD-UK 3 12358229 12358229 single base substitution T A intron_variant PRAD-UK 3 12362873 12362873 single base substitution C A intron_variant PRAD-UK 3 12368779 12368779 single base substitution G A intron_variant PRAD-UK 3 12399375 12399392 deletion of <=200bp TGTTTTATTCTATATTCC - intron_variant PRAD-UK 3 12424889 12424889 single base substitution A G downstream_gene_variant PRAD-UK 3 12424889 12424889 single base substitution A G intron_variant PRAD-UK 3 12425862 12425862 single base substitution G C downstream_gene_variant PRAD-UK 3 12425862 12425862 single base substitution G C intron_variant PRAD-UK 3 12428875 12428875 single base substitution C T intron_variant PRAD-UK 3 12435436 12435436 single base substitution G T intron_variant PRAD-UK 3 12463135 12463135 single base substitution T A downstream_gene_variant PRAD-UK 3 12463135 12463135 single base substitution T A intron_variant PRAD-UK 3 12473487 12473487 single base substitution T A intron_variant PRAD-UK 3 12474792 12474792 single base substitution T C intron_variant PRAD-UK 3 12480114 12480114 single base substitution C T downstream_gene_variant PRAD-US 3 12475528 12475528 single base substitution A G 3_prime_UTR_variant PRAD-US 3 12475528 12475528 single base substitution A G missense_variant T440A 1318A>G PRAD-US 3 12475528 12475528 single base substitution A G missense_variant T446A 1336A>G PRAD-US 3 12475528 12475528 single base substitution A G missense_variant T468A 1402A>G RECA-EU 3 12358561 12358561 single base substitution T C intron_variant RECA-EU 3 12394258 12394258 single base substitution T G intron_variant RECA-EU 3 12395135 12395135 single base substitution G A intron_variant RECA-EU 3 12425866 12425866 single base substitution A T downstream_gene_variant RECA-EU 3 12425866 12425866 single base substitution A T intron_variant RECA-EU 3 12431278 12431278 single base substitution C A intron_variant RECA-EU 3 12442514 12442514 single base substitution T G intron_variant RECA-EU 3 12443056 12443056 single base substitution A G intron_variant RECA-EU 3 12447507 12447507 single base substitution C T 3_prime_UTR_variant RECA-EU 3 12447507 12447507 single base substitution C T exon_variant RECA-EU 3 12447507 12447507 single base substitution C T missense_variant S219L 656C>T RECA-EU 3 12447507 12447507 single base substitution C T missense_variant S221L 662C>T RECA-EU 3 12447507 12447507 single base substitution C T missense_variant S227L 680C>T RECA-EU 3 12447507 12447507 single base substitution C T missense_variant S249L 746C>T RECA-EU 3 12451205 12451205 single base substitution G C downstream_gene_variant RECA-EU 3 12451205 12451205 single base substitution G C intron_variant RECA-EU 3 12468517 12468517 single base substitution C T intron_variant SKCA-BR 3 12323871 12323871 single base substitution C T upstream_gene_variant SKCA-BR 3 12323876 12323876 single base substitution C T upstream_gene_variant SKCA-BR 3 12323930 12323930 single base substitution C T upstream_gene_variant SKCA-BR 3 12325190 12325192 deletion of <=200bp CAA - upstream_gene_variant SKCA-BR 3 12325793 12325793 single base substitution C T upstream_gene_variant SKCA-BR 3 12326524 12326524 single base substitution G A upstream_gene_variant SKCA-BR 3 12326976 12326976 single base substitution C T upstream_gene_variant SKCA-BR 3 12327831 12327831 single base substitution T G upstream_gene_variant SKCA-BR 3 12327841 12327841 single base substitution C T upstream_gene_variant SKCA-BR 3 12330666 12330666 single base substitution G A intron_variant SKCA-BR 3 12331895 12331895 single base substitution T A intron_variant SKCA-BR 3 12334098 12334098 single base substitution C A intron_variant SKCA-BR 3 12337014 12337014 single base substitution T A intron_variant SKCA-BR 3 12337821 12337821 single base substitution C T intron_variant SKCA-BR 3 12338337 12338337 single base substitution G A intron_variant SKCA-BR 3 12342037 12342037 single base substitution C T intron_variant SKCA-BR 3 12342075 12342076 deletion of <=200bp CT - intron_variant SKCA-BR 3 12345528 12345528 single base substitution C T intron_variant SKCA-BR 3 12345528 12345528 single base substitution C T upstream_gene_variant SKCA-BR 3 12346119 12346119 single base substitution A T intron_variant SKCA-BR 3 12346119 12346119 single base substitution A T upstream_gene_variant SKCA-BR 3 12346771 12346771 single base substitution C T intron_variant SKCA-BR 3 12346771 12346771 single base substitution C T upstream_gene_variant SKCA-BR 3 12347024 12347024 single base substitution C T intron_variant SKCA-BR 3 12347024 12347024 single base substitution C T upstream_gene_variant SKCA-BR 3 12347095 12347095 single base substitution G A intron_variant SKCA-BR 3 12347095 12347095 single base substitution G A upstream_gene_variant SKCA-BR 3 12347862 12347862 single base substitution G A intron_variant SKCA-BR 3 12348406 12348421 deletion of <=200bp GCTAACACGGTGTAAC - intron_variant SKCA-BR 3 12348469 12348469 single base substitution C T intron_variant SKCA-BR 3 12348631 12348631 single base substitution G A intron_variant SKCA-BR 3 12348655 12348655 single base substitution C T intron_variant SKCA-BR 3 12349206 12349206 single base substitution G A intron_variant SKCA-BR 3 12349206 12349206 single base substitution G A upstream_gene_variant SKCA-BR 3 12349217 12349217 single base substitution G A intron_variant SKCA-BR 3 12349217 12349217 single base substitution G A upstream_gene_variant SKCA-BR 3 12349530 12349530 single base substitution G T intron_variant SKCA-BR 3 12349530 12349530 single base substitution G T upstream_gene_variant SKCA-BR 3 12349869 12349870 deletion of <=200bp AG - intron_variant SKCA-BR 3 12349869 12349870 deletion of <=200bp AG - upstream_gene_variant SKCA-BR 3 12351747 12351747 single base substitution G A intron_variant SKCA-BR 3 12351747 12351747 single base substitution G A upstream_gene_variant SKCA-BR 3 12355732 12355732 single base substitution C T intron_variant SKCA-BR 3 12358250 12358250 single base substitution C T intron_variant SKCA-BR 3 12361755 12361755 single base substitution C T intron_variant SKCA-BR 3 12362222 12362222 single base substitution T A intron_variant SKCA-BR 3 12363961 12363961 single base substitution C T intron_variant SKCA-BR 3 12364319 12364319 single base substitution C T intron_variant SKCA-BR 3 12366582 12366582 single base substitution T G intron_variant SKCA-BR 3 12369786 12369786 single base substitution C T intron_variant SKCA-BR 3 12370665 12370666 deletion of <=200bp CA - intron_variant SKCA-BR 3 12371540 12371540 single base substitution C T intron_variant SKCA-BR 3 12371801 12371801 insertion of <=200bp - TA intron_variant SKCA-BR 3 12374603 12374603 single base substitution T G intron_variant SKCA-BR 3 12377699 12377699 single base substitution G A intron_variant SKCA-BR 3 12379202 12379202 single base substitution T C intron_variant SKCA-BR 3 12379221 12379221 single base substitution C T intron_variant SKCA-BR 3 12381738 12381738 single base substitution C T intron_variant SKCA-BR 3 12381878 12381878 single base substitution T C intron_variant SKCA-BR 3 12383327 12383327 single base substitution C T intron_variant SKCA-BR 3 12383758 12383758 single base substitution T C intron_variant SKCA-BR 3 12383817 12383817 single base substitution C A intron_variant SKCA-BR 3 12384541 12384541 single base substitution C A intron_variant SKCA-BR 3 12387605 12387605 single base substitution G A intron_variant SKCA-BR 3 12388377 12388377 single base substitution C A intron_variant SKCA-BR 3 12388377 12388377 single base substitution C A upstream_gene_variant SKCA-BR 3 12388664 12388664 single base substitution G A intron_variant SKCA-BR 3 12388664 12388664 single base substitution G A upstream_gene_variant SKCA-BR 3 12389672 12389672 single base substitution G A intron_variant SKCA-BR 3 12389672 12389672 single base substitution G A upstream_gene_variant SKCA-BR 3 12389836 12389836 single base substitution C T intron_variant SKCA-BR 3 12389836 12389836 single base substitution C T upstream_gene_variant SKCA-BR 3 12390427 12390427 single base substitution G C intron_variant SKCA-BR 3 12390427 12390427 single base substitution G C upstream_gene_variant SKCA-BR 3 12392535 12392535 single base substitution G A intron_variant SKCA-BR 3 12392535 12392535 single base substitution G A upstream_gene_variant SKCA-BR 3 12393529 12393529 single base substitution C T intron_variant SKCA-BR 3 12394370 12394370 single base substitution G T intron_variant SKCA-BR 3 12396252 12396253 deletion of <=200bp CA - intron_variant SKCA-BR 3 12398267 12398267 single base substitution C T intron_variant SKCA-BR 3 12398653 12398653 single base substitution G A intron_variant SKCA-BR 3 12399966 12399966 single base substitution G A intron_variant SKCA-BR 3 12400372 12400372 single base substitution A G intron_variant SKCA-BR 3 12401069 12401069 single base substitution T C intron_variant SKCA-BR 3 12403412 12403412 single base substitution G A intron_variant SKCA-BR 3 12403605 12403605 single base substitution C T intron_variant SKCA-BR 3 12404761 12404761 single base substitution G A intron_variant SKCA-BR 3 12404970 12404970 single base substitution T A intron_variant SKCA-BR 3 12405575 12405575 single base substitution C T intron_variant SKCA-BR 3 12407344 12407344 single base substitution G A intron_variant SKCA-BR 3 12408350 12408350 single base substitution G A intron_variant SKCA-BR 3 12408420 12408420 single base substitution G A intron_variant SKCA-BR 3 12409196 12409196 single base substitution T A intron_variant SKCA-BR 3 12410434 12410434 single base substitution T A intron_variant SKCA-BR 3 12412184 12412184 single base substitution T C intron_variant SKCA-BR 3 12413563 12413563 single base substitution A T 3_prime_UTR_variant SKCA-BR 3 12413563 12413563 single base substitution A T 5_prime_UTR_variant SKCA-BR 3 12413563 12413563 single base substitution A T intron_variant SKCA-BR 3 12414906 12414906 single base substitution C T intron_variant SKCA-BR 3 12415872 12415872 single base substitution T G intron_variant SKCA-BR 3 12416404 12416404 single base substitution G A intron_variant SKCA-BR 3 12416404 12416404 single base substitution G A upstream_gene_variant SKCA-BR 3 12418447 12418447 single base substitution T A intron_variant SKCA-BR 3 12418447 12418447 single base substitution T A upstream_gene_variant SKCA-BR 3 12419037 12419037 single base substitution T A intron_variant SKCA-BR 3 12419037 12419037 single base substitution T A upstream_gene_variant SKCA-BR 3 12419523 12419523 single base substitution C T intron_variant SKCA-BR 3 12419523 12419523 single base substitution C T upstream_gene_variant SKCA-BR 3 12420575 12420575 single base substitution A G intron_variant SKCA-BR 3 12420575 12420575 single base substitution A G upstream_gene_variant SKCA-BR 3 12421570 12421570 single base substitution C T downstream_gene_variant SKCA-BR 3 12421570 12421570 single base substitution C T intron_variant SKCA-BR 3 12422119 12422119 single base substitution G A downstream_gene_variant SKCA-BR 3 12422119 12422119 single base substitution G A intron_variant SKCA-BR 3 12424471 12424471 single base substitution C A downstream_gene_variant SKCA-BR 3 12424471 12424471 single base substitution C A intron_variant SKCA-BR 3 12429876 12429876 single base substitution C T intron_variant SKCA-BR 3 12432480 12432480 single base substitution A T intron_variant SKCA-BR 3 12434283 12434283 single base substitution T G intron_variant SKCA-BR 3 12436755 12436755 single base substitution C T intron_variant SKCA-BR 3 12438108 12438108 single base substitution T C intron_variant SKCA-BR 3 12438877 12438880 deletion of <=200bp TTTA - intron_variant SKCA-BR 3 12439584 12439584 single base substitution C T intron_variant SKCA-BR 3 12439962 12439962 single base substitution G C intron_variant SKCA-BR 3 12440172 12440172 single base substitution G A intron_variant SKCA-BR 3 12443077 12443077 single base substitution C T intron_variant SKCA-BR 3 12443364 12443364 single base substitution G A intron_variant SKCA-BR 3 12444372 12444372 single base substitution C T intron_variant SKCA-BR 3 12445944 12445944 single base substitution G A intron_variant SKCA-BR 3 12446804 12446804 single base substitution A G intron_variant SKCA-BR 3 12446972 12446972 single base substitution C T intron_variant SKCA-BR 3 12447059 12447059 single base substitution G A intron_variant SKCA-BR 3 12447109 12447109 single base substitution C T intron_variant SKCA-BR 3 12447948 12447948 single base substitution C G exon_variant SKCA-BR 3 12447948 12447948 single base substitution C G intron_variant SKCA-BR 3 12448750 12448750 single base substitution C T downstream_gene_variant SKCA-BR 3 12448750 12448750 single base substitution C T intron_variant SKCA-BR 3 12453428 12453428 single base substitution C T intron_variant SKCA-BR 3 12455180 12455180 single base substitution G A intron_variant SKCA-BR 3 12456567 12456567 single base substitution G A intron_variant SKCA-BR 3 12458518 12458518 single base substitution G A 3_prime_UTR_variant SKCA-BR 3 12458518 12458518 single base substitution G A intron_variant SKCA-BR 3 12458518 12458518 single base substitution G A missense_variant E351K 1051G>A SKCA-BR 3 12458518 12458518 single base substitution G A missense_variant E357K 1069G>A SKCA-BR 3 12458518 12458518 single base substitution G A missense_variant E379K 1135G>A SKCA-BR 3 12459162 12459162 single base substitution C T downstream_gene_variant SKCA-BR 3 12459162 12459162 single base substitution C T intron_variant SKCA-BR 3 12459683 12459683 single base substitution A T downstream_gene_variant SKCA-BR 3 12459683 12459683 single base substitution A T intron_variant SKCA-BR 3 12461319 12461320 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 3 12461319 12461320 deletion of <=200bp AT - intron_variant SKCA-BR 3 12461919 12461919 single base substitution C G downstream_gene_variant SKCA-BR 3 12461919 12461919 single base substitution C G intron_variant SKCA-BR 3 12462408 12462408 single base substitution T C downstream_gene_variant SKCA-BR 3 12462408 12462408 single base substitution T C intron_variant SKCA-BR 3 12463258 12463258 single base substitution G A downstream_gene_variant SKCA-BR 3 12463258 12463258 single base substitution G A intron_variant SKCA-BR 3 12463610 12463610 single base substitution G A downstream_gene_variant SKCA-BR 3 12463610 12463610 single base substitution G A intron_variant SKCA-BR 3 12467329 12467329 single base substitution G A intron_variant SKCA-BR 3 12467493 12467493 single base substitution C T intron_variant SKCA-BR 3 12468036 12468036 single base substitution G A intron_variant SKCA-BR 3 12468652 12468652 single base substitution C T intron_variant SKCA-BR 3 12469586 12469586 single base substitution C T intron_variant SKCA-BR 3 12469621 12469621 single base substitution A C intron_variant SKCA-BR 3 12469724 12469724 single base substitution G A intron_variant SKCA-BR 3 12469828 12469828 single base substitution G A intron_variant SKCA-BR 3 12471051 12471051 insertion of <=200bp - CAAA intron_variant SKCA-BR 3 12471051 12471061 deletion of <=200bp CAAAAAAAAAA - intron_variant SKCA-BR 3 12472065 12472065 single base substitution G A intron_variant SKCA-BR 3 12475348 12475348 single base substitution G A intron_variant SKCA-BR 3 12477510 12477510 single base substitution T C downstream_gene_variant SKCM-US 3 12393094 12393094 single base substitution G A exon_variant SKCM-US 3 12393094 12393094 single base substitution G A intron_variant SKCM-US 3 12393094 12393094 single base substitution G A start_lost M1I 3G>A SKCM-US 3 12421229 12421229 single base substitution C T 3_prime_UTR_variant SKCM-US 3 12421229 12421229 single base substitution C T exon_variant SKCM-US 3 12421229 12421229 single base substitution C T missense_variant P15S 43C>T SKCM-US 3 12421229 12421229 single base substitution C T missense_variant P37S 109C>T SKCM-US 3 12421229 12421229 single base substitution C T missense_variant P7S 19C>T SKCM-US 3 12421229 12421229 single base substitution C T missense_variant P9S 25C>T SKCM-US 3 12421299 12421299 single base substitution T G 3_prime_UTR_variant SKCM-US 3 12421299 12421299 single base substitution T G exon_variant SKCM-US 3 12421299 12421299 single base substitution T G missense_variant F30C 89T>G SKCM-US 3 12421299 12421299 single base substitution T G missense_variant F32C 95T>G SKCM-US 3 12421299 12421299 single base substitution T G missense_variant F38C 113T>G SKCM-US 3 12421299 12421299 single base substitution T G missense_variant F60C 179T>G SKCM-US 3 12421306 12421306 single base substitution C T 3_prime_UTR_variant SKCM-US 3 12421306 12421306 single base substitution C T exon_variant SKCM-US 3 12421306 12421306 single base substitution C T synonymous_variant I32I 96C>T SKCM-US 3 12421306 12421306 single base substitution C T synonymous_variant I34I 102C>T SKCM-US 3 12421306 12421306 single base substitution C T synonymous_variant I40I 120C>T SKCM-US 3 12421306 12421306 single base substitution C T synonymous_variant I62I 186C>T SKCM-US 3 12421374 12421374 single base substitution G A 3_prime_UTR_variant SKCM-US 3 12421374 12421374 single base substitution G A downstream_gene_variant SKCM-US 3 12421374 12421374 single base substitution G A exon_variant SKCM-US 3 12421374 12421374 single base substitution G A missense_variant R55K 164G>A SKCM-US 3 12421374 12421374 single base substitution G A missense_variant R57K 170G>A SKCM-US 3 12421374 12421374 single base substitution G A missense_variant R63K 188G>A SKCM-US 3 12421374 12421374 single base substitution G A missense_variant R85K 254G>A SKCM-US 3 12421418 12421418 single base substitution C T 3_prime_UTR_variant SKCM-US 3 12421418 12421418 single base substitution C T downstream_gene_variant SKCM-US 3 12421418 12421418 single base substitution C T exon_variant SKCM-US 3 12421418 12421418 single base substitution C T stop_gained Q100* 298C>T SKCM-US 3 12421418 12421418 single base substitution C T stop_gained Q70* 208C>T SKCM-US 3 12421418 12421418 single base substitution C T stop_gained Q72* 214C>T SKCM-US 3 12421418 12421418 single base substitution C T stop_gained Q78* 232C>T SKCM-US 3 12422909 12422909 single base substitution C T 3_prime_UTR_variant SKCM-US 3 12422909 12422909 single base substitution C T downstream_gene_variant SKCM-US 3 12422909 12422909 single base substitution C T exon_variant SKCM-US 3 12422909 12422909 single base substitution C T synonymous_variant S103S 309C>T SKCM-US 3 12422909 12422909 single base substitution C T synonymous_variant S105S 315C>T SKCM-US 3 12422909 12422909 single base substitution C T synonymous_variant S111S 333C>T SKCM-US 3 12422909 12422909 single base substitution C T synonymous_variant S133S 399C>T SKCM-US 3 12434237 12434237 single base substitution G A 3_prime_UTR_variant SKCM-US 3 12434237 12434237 single base substitution G A exon_variant SKCM-US 3 12434237 12434237 single base substitution G A missense_variant G172E 515G>A SKCM-US 3 12434237 12434237 single base substitution G A missense_variant G174E 521G>A SKCM-US 3 12434237 12434237 single base substitution G A missense_variant G180E 539G>A SKCM-US 3 12434237 12434237 single base substitution G A missense_variant G202E 605G>A SKCM-US 3 12447402 12447402 single base substitution C T 3_prime_UTR_variant SKCM-US 3 12447402 12447402 single base substitution C T exon_variant SKCM-US 3 12447402 12447402 single base substitution C T missense_variant P184L 551C>T SKCM-US 3 12447402 12447402 single base substitution C T missense_variant P186L 557C>T SKCM-US 3 12447402 12447402 single base substitution C T missense_variant P192L 575C>T SKCM-US 3 12447402 12447402 single base substitution C T missense_variant P214L 641C>T SKCM-US 3 12447418 12447418 single base substitution G A 3_prime_UTR_variant SKCM-US 3 12447418 12447418 single base substitution G A exon_variant SKCM-US 3 12447418 12447418 single base substitution G A synonymous_variant E189E 567G>A SKCM-US 3 12447418 12447418 single base substitution G A synonymous_variant E191E 573G>A SKCM-US 3 12447418 12447418 single base substitution G A synonymous_variant E197E 591G>A SKCM-US 3 12447418 12447418 single base substitution G A synonymous_variant E219E 657G>A SKCM-US 3 12447430 12447430 single base substitution G A 3_prime_UTR_variant SKCM-US 3 12447430 12447430 single base substitution G A exon_variant SKCM-US 3 12447430 12447430 single base substitution G A synonymous_variant A193A 579G>A SKCM-US 3 12447430 12447430 single base substitution G A synonymous_variant A195A 585G>A SKCM-US 3 12447430 12447430 single base substitution G A synonymous_variant A201A 603G>A SKCM-US 3 12447430 12447430 single base substitution G A synonymous_variant A223A 669G>A SKCM-US 3 12447433 12447433 single base substitution G A 3_prime_UTR_variant SKCM-US 3 12447433 12447433 single base substitution G A exon_variant SKCM-US 3 12447433 12447433 single base substitution G A synonymous_variant E194E 582G>A SKCM-US 3 12447433 12447433 single base substitution G A synonymous_variant E196E 588G>A SKCM-US 3 12447433 12447433 single base substitution G A synonymous_variant E202E 606G>A SKCM-US 3 12447433 12447433 single base substitution G A synonymous_variant E224E 672G>A SKCM-US 3 12458228 12458228 single base substitution C T 3_prime_UTR_variant SKCM-US 3 12458228 12458228 single base substitution C T intron_variant SKCM-US 3 12458228 12458228 single base substitution C T missense_variant S254F 761C>T SKCM-US 3 12458228 12458228 single base substitution C T missense_variant S260F 779C>T SKCM-US 3 12458228 12458228 single base substitution C T missense_variant S282F 845C>T SKCM-US 3 12458329 12458329 single base substitution C T 3_prime_UTR_variant SKCM-US 3 12458329 12458329 single base substitution C T intron_variant SKCM-US 3 12458329 12458329 single base substitution C T missense_variant R288C 862C>T SKCM-US 3 12458329 12458329 single base substitution C T missense_variant R294C 880C>T SKCM-US 3 12458329 12458329 single base substitution C T missense_variant R316C 946C>T SKCM-US 3 12458381 12458381 single base substitution G A 3_prime_UTR_variant SKCM-US 3 12458381 12458381 single base substitution G A intron_variant SKCM-US 3 12458381 12458381 single base substitution G A missense_variant G305D 914G>A SKCM-US 3 12458381 12458381 single base substitution G A missense_variant G311D 932G>A SKCM-US 3 12458381 12458381 single base substitution G A missense_variant G333D 998G>A SKCM-US 3 12458442 12458442 single base substitution C T 3_prime_UTR_variant SKCM-US 3 12458442 12458442 single base substitution C T intron_variant SKCM-US 3 12458442 12458442 single base substitution C T synonymous_variant I325I 975C>T SKCM-US 3 12458442 12458442 single base substitution C T synonymous_variant I331I 993C>T SKCM-US 3 12458442 12458442 single base substitution C T synonymous_variant I353I 1059C>T SKCM-US 3 12458487 12458487 single base substitution C T 3_prime_UTR_variant SKCM-US 3 12458487 12458487 single base substitution C T intron_variant SKCM-US 3 12458487 12458487 single base substitution C T synonymous_variant L340L 1020C>T SKCM-US 3 12458487 12458487 single base substitution C T synonymous_variant L346L 1038C>T SKCM-US 3 12458487 12458487 single base substitution C T synonymous_variant L368L 1104C>T SKCM-US 3 12458497 12458497 single base substitution G A 3_prime_UTR_variant SKCM-US 3 12458497 12458497 single base substitution G A intron_variant SKCM-US 3 12458497 12458497 single base substitution G A missense_variant G344S 1030G>A SKCM-US 3 12458497 12458497 single base substitution G A missense_variant G350S 1048G>A SKCM-US 3 12458497 12458497 single base substitution G A missense_variant G372S 1114G>A SKCM-US 3 12458537 12458537 single base substitution G A 3_prime_UTR_variant SKCM-US 3 12458537 12458537 single base substitution G A intron_variant SKCM-US 3 12458537 12458537 single base substitution G A missense_variant R357Q 1070G>A SKCM-US 3 12458537 12458537 single base substitution G A missense_variant R363Q 1088G>A SKCM-US 3 12458537 12458537 single base substitution G A missense_variant R385Q 1154G>A SKCM-US 3 12458654 12458654 single base substitution G A downstream_gene_variant SKCM-US 3 12458654 12458654 single base substitution G A intron_variant SKCM-US 3 12458654 12458654 single base substitution G A splice_donor_variant STAD-US 3 12421297 12421297 single base substitution C A 3_prime_UTR_variant STAD-US 3 12421297 12421297 single base substitution C A exon_variant STAD-US 3 12421297 12421297 single base substitution C A synonymous_variant S29S 87C>A STAD-US 3 12421297 12421297 single base substitution C A synonymous_variant S31S 93C>A STAD-US 3 12421297 12421297 single base substitution C A synonymous_variant S37S 111C>A STAD-US 3 12421297 12421297 single base substitution C A synonymous_variant S59S 177C>A STAD-US 3 12422929 12422929 single base substitution G A 3_prime_UTR_variant STAD-US 3 12422929 12422929 single base substitution G A downstream_gene_variant STAD-US 3 12422929 12422929 single base substitution G A exon_variant STAD-US 3 12422929 12422929 single base substitution G A missense_variant R110H 329G>A STAD-US 3 12422929 12422929 single base substitution G A missense_variant R112H 335G>A STAD-US 3 12422929 12422929 single base substitution G A missense_variant R118H 353G>A STAD-US 3 12422929 12422929 single base substitution G A missense_variant R140H 419G>A STAD-US 3 12434182 12434182 deletion of <=200bp A - 3_prime_UTR_variant STAD-US 3 12434182 12434182 deletion of <=200bp A - exon_variant STAD-US 3 12434182 12434182 deletion of <=200bp A - frameshift_variant K154 STAD-US 3 12434182 12434182 deletion of <=200bp A - frameshift_variant K156 STAD-US 3 12434182 12434182 deletion of <=200bp A - frameshift_variant K162 STAD-US 3 12434182 12434182 deletion of <=200bp A - frameshift_variant K184 STAD-US 3 12458573 12458573 single base substitution A G 3_prime_UTR_variant STAD-US 3 12458573 12458573 single base substitution A G intron_variant STAD-US 3 12458573 12458573 single base substitution A G missense_variant E369G 1106A>G STAD-US 3 12458573 12458573 single base substitution A G missense_variant E375G 1124A>G STAD-US 3 12458573 12458573 single base substitution A G missense_variant E397G 1190A>G UCEC-US 3 12393128 12393128 single base substitution G T exon_variant UCEC-US 3 12393128 12393128 single base substitution G T intron_variant UCEC-US 3 12393128 12393128 single base substitution G T stop_gained E13* 37G>T UCEC-US 3 12434164 12434164 single base substitution C A 3_prime_UTR_variant UCEC-US 3 12434164 12434164 single base substitution C A exon_variant UCEC-US 3 12434164 12434164 single base substitution C A missense_variant L148I 442C>A UCEC-US 3 12434164 12434164 single base substitution C A missense_variant L150I 448C>A UCEC-US 3 12434164 12434164 single base substitution C A missense_variant L156I 466C>A UCEC-US 3 12434164 12434164 single base substitution C A missense_variant L178I 532C>A UCEC-US 3 12447443 12447443 single base substitution G T 3_prime_UTR_variant UCEC-US 3 12447443 12447443 single base substitution G T exon_variant UCEC-US 3 12447443 12447443 single base substitution G T missense_variant D198Y 592G>T UCEC-US 3 12447443 12447443 single base substitution G T missense_variant D200Y 598G>T UCEC-US 3 12447443 12447443 single base substitution G T missense_variant D206Y 616G>T UCEC-US 3 12447443 12447443 single base substitution G T missense_variant D228Y 682G>T UCEC-US 3 12447550 12447550 single base substitution G A 3_prime_UTR_variant UCEC-US 3 12447550 12447550 single base substitution G A exon_variant UCEC-US 3 12447550 12447550 single base substitution G A synonymous_variant A233A 699G>A UCEC-US 3 12447550 12447550 single base substitution G A synonymous_variant A235A 705G>A UCEC-US 3 12447550 12447550 single base substitution G A synonymous_variant A241A 723G>A UCEC-US 3 12447550 12447550 single base substitution G A synonymous_variant A263A 789G>A UCEC-US 3 12458305 12458305 single base substitution C T 3_prime_UTR_variant UCEC-US 3 12458305 12458305 single base substitution C T intron_variant UCEC-US 3 12458305 12458305 single base substitution C T missense_variant R280C 838C>T UCEC-US 3 12458305 12458305 single base substitution C T missense_variant R286C 856C>T UCEC-US 3 12458305 12458305 single base substitution C T missense_variant R308C 922C>T UCEC-US 3 12458437 12458437 single base substitution G A 3_prime_UTR_variant UCEC-US 3 12458437 12458437 single base substitution G A intron_variant UCEC-US 3 12458437 12458437 single base substitution G A missense_variant E324K 970G>A UCEC-US 3 12458437 12458437 single base substitution G A missense_variant E330K 988G>A UCEC-US 3 12458437 12458437 single base substitution G A missense_variant E352K 1054G>A UCEC-US 3 12475421 12475421 single base substitution A C 3_prime_UTR_variant UCEC-US 3 12475421 12475421 single base substitution A C missense_variant K404T 1211A>C UCEC-US 3 12475421 12475421 single base substitution A C missense_variant K410T 1229A>C UCEC-US 3 12475421 12475421 single base substitution A C missense_variant K432T 1295A>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-A5-A0VP-01 COSM1037631 c.1295A>C p.K432T Substitution - Missense 3:12433922-12433922 + TCGA-B5-A0JY-01 COSM1037579 c.682G>T p.D228Y Substitution - Missense 3:12405944-12405944 + YUPAER COSM5398003 c.82G>T p.E28* Substitution - Nonsense 3:12351674-12351674 + T3152 COSM4716826 c.550delA p.S186fs*47 Deletion - Frameshift 3:12392683-12392683 + TCGA-BG-A0LX-01 COSM1037496 c.109C>T p.P37S Substitution - Missense 3:12379730-12379730 + 2492708 COSM5717101 c.191C>T p.P64L Substitution - Missense 3:12379812-12379812 + B88 COSM1752865 c.940C>G p.Q314E Substitution - Missense 3:12416824-12416824 + SH-1439 COSM4002430 c.1431C>T p.H477H Substitution - coding silent 3:12434058-12434058 + T3724 COSM1418391 c.887delC p.L298fs*38 Deletion - Frameshift 3:12416771-12416771 + YUGURT COSM5398018 c.402C>T p.L134L Substitution - coding silent 3:12381413-12381413 + ICGC_MB65 COSM1037601 c.922C>T p.R308C Substitution - Missense 3:12416806-12416806 + TCGA-D3-A1Q4-06 COSM3586703 c.946C>T p.R316C Substitution - Missense 3:12416830-12416830 + CHC1531T COSM4804800 c.452A>G p.Y151C Substitution - Missense 3:12381463-12381463 + TCGA-DU-7006-01 COSM3974129 c.262C>G p.P88A Substitution - Missense 3:12379883-12379883 + RMS110_ COSM4987222 c.34C>G p.P12A Substitution - Missense 3:12351626-12351626 + TCGA-D9-A6EC-06 COSM1037496 c.109C>T p.P37S Substitution - Missense 3:12379730-12379730 + TCGA-EE-A3AA-06 COSM3586705 c.1059C>T p.I353I Substitution - coding silent 3:12416943-12416943 + B52 COSM581315 c.7G>A p.E3K Substitution - Missense 3:12351599-12351599 + TCGA-FJ-A3ZF-01 COSM3800994 c.648C>A p.A216A Substitution - coding silent 3:12405910-12405910 + Pat_76_B COSM1692398 c.845C>T p.S282F Substitution - Missense 3:12416729-12416729 + C0051T COSM4152657 c.746C>T p.S249L Substitution - Missense 3:12406008-12406008 + TCGA-G4-6307-01 COSM1418414 c.1477C>T p.L493F Substitution - Missense 3:12434104-12434104 + TCGA-BK-A0C9-01 COSM1037578 c.669G>A p.A223A Substitution - coding silent 3:12405931-12405931 + S03-45671-TP COSM4991821 c.486C>T p.F162F Substitution - coding silent 3:12392619-12392619 + TCGA-CK-5916-01 COSM1418344 c.303G>A p.E101E Substitution - coding silent 3:12379924-12379924 + S10-24679-TP COSM4991827 c.944T>A p.F315Y Substitution - Missense 3:12416828-12416828 + 79T COSM1642075 c.1460C>T p.T487M Substitution - Missense 3:12434087-12434087 + TCGA-BR-6852-01 COSM4113015 c.1190A>G p.E397G Substitution - Missense 3:12417074-12417074 + GC8_T COSM149338 c.1413A>G p.R471R Substitution - coding silent 3:12434040-12434040 + TCGA-EE-A29D-06 COSM3586622 c.399C>T p.S133S Substitution - coding silent 3:12381410-12381410 + YUBER COSM1692398 c.845C>T p.S282F Substitution - Missense 3:12416729-12416729 + SH-3133 COSM4002430 c.1431C>T p.H477H Substitution - coding silent 3:12434058-12434058 + cSCCP7 COSM139444 c.448C>T p.H150Y Substitution - Missense 3:12381459-12381459 + AOCS-139-6-3 COSM4138391 c.1515C>G p.Y505* Substitution - Nonsense 3:12434142-12434142 + SH-9161 COSM5020144 c.1452C>T p.I484I Substitution - coding silent 3:12434079-12434079 + CRC-02T COSM5455123 c.1461G>A p.T487T Substitution - coding silent 3:12434088-12434088 + RK288_C01 COSM4780549 c.1093G>A p.D365N Substitution - Missense 3:12416977-12416977 + C086 COSM5537468 c.967G>A p.E323K Substitution - Missense 3:12416851-12416851 + CSCC-11-T COSM4467363 c.1484C>G p.P495R Substitution - Missense 3:12434111-12434111 + TCGA-OL-A66H-01 COSM445475 c.724C>G p.L242V Substitution - Missense 3:12405986-12405986 + TCGA-EK-A2PG-01 COSM4819330 c.1083G>A p.L361L Substitution - coding silent 3:12416967-12416967 + PDA_041 COSM5000228 c.1037T>A p.L346H Substitution - Missense 3:12416921-12416921 + TCGA-EE-A2GD-06 COSM3586707 c.1114G>A p.G372S Substitution - Missense 3:12416998-12416998 + BRC29 COSM5025893 c.645G>A p.Q215Q Substitution - coding silent 3:12405907-12405907 + S04-45633-TP COSM4991822 c.590A>C p.K197T Substitution - Missense 3:12392723-12392723 + PCSI_0508_Pa_P_526 COSM3058059 c.1424C>T p.T475M Substitution - Missense 3:12434051-12434051 + HCC66T COSM1616829 c.1105A>T p.I369L Substitution - Missense 3:12416989-12416989 + T3064 COSM4716826 c.550delA p.S186fs*47 Deletion - Frameshift 3:12392683-12392683 + TCGA-AP-A0LD-01 COSM1037602 c.1054G>A p.E352K Substitution - Missense 3:12416938-12416938 + TCGA-EE-A182-06 COSM3586706 c.1104C>T p.L368L Substitution - coding silent 3:12416988-12416988 + BD98T COSM5520654 c.85A>G p.M29V Substitution - Missense 3:12379706-12379706 + PD4100a COSM163661 c.290T>G p.L97R Substitution - Missense 3:12379911-12379911 + B88-Tumor COSM1752865 c.940C>G p.Q314E Substitution - Missense 3:12416824-12416824 + TCGA-CG-5728-01 COSM4112967 c.177C>A p.S59S Substitution - coding silent 3:12379798-12379798 + pfg019T COSM1642075 c.1460C>T p.T487M Substitution - Missense 3:12434087-12434087 + YURED COSM1692394 c.77C>T p.S26L Substitution - Missense 3:12351669-12351669 + TCGA-FS-A1ZW-06 COSM3586617 c.186C>T p.I62I Substitution - coding silent 3:12379807-12379807 + SH-7032 COSM4002430 c.1431C>T p.H477H Substitution - coding silent 3:12434058-12434058 + Pat_76_A COSM1692398 c.845C>T p.S282F Substitution - Missense 3:12416729-12416729 + AOCS-139-19-0 COSM4138391 c.1515C>G p.Y505* Substitution - Nonsense 3:12434142-12434142 + 2521259 COSM5627349 c.634C>T p.R212W Substitution - Missense 3:12405896-12405896 + LUAD-NYU259 COSM371874 c.765G>T p.P255P Substitution - coding silent 3:12406027-12406027 + S00-35182-TP COSM4991820 c.17G>A p.G6E Substitution - Missense 3:12351609-12351609 + TCGA-EB-A41B-01 COSM3586691 c.672G>A p.E224E Substitution - coding silent 3:12405934-12405934 + 2_PRE-TREATMENT COSM1722533 c.480+7delA p.? Unknown 3:12381498-12381498 + TCGA-AN-A0FW-01 COSM5207169 c.549_550insA p.S186fs*2 Insertion - Frameshift 3:12392682-12392683 + CHC1531T COSM4804800 c.452A>G p.Y151C Substitution - Missense 3:12381463-12381463 + SH-0348 COSM4002430 c.1431C>T p.H477H Substitution - coding silent 3:12434058-12434058 + HCC66 COSM1616829 c.1105A>T p.I369L Substitution - Missense 3:12416989-12416989 + TCGA-CA-6717-01 COSM1418271 c.75A>T p.I25I Substitution - coding silent 3:12351667-12351667 + HCC8T COSM1616826 c.686T>C p.I229T Substitution - Missense 3:12405948-12405948 + SH-1641 COSM4987222 c.34C>G p.P12A Substitution - Missense 3:12351626-12351626 + TCGA-EE-A29V-06 COSM3586619 c.298C>T p.Q100* Substitution - Nonsense 3:12379919-12379919 + TCGA-B1-A657-01 COSM4908176 c.636G>C p.R212R Substitution - coding silent 3:12405898-12405898 + TCGA-A2-A0YC-01 COSM445475 c.724C>G p.L242V Substitution - Missense 3:12405986-12405986 + TCGA-BS-A0UF-01 COSM1037398 c.37G>T p.E13* Substitution - Nonsense 3:12351629-12351629 + ESCC_BICR_062T COSM5444470 c.159G>A p.M53I Substitution - Missense 3:12379780-12379780 + HX14T COSM1616826 c.686T>C p.I229T Substitution - Missense 3:12405948-12405948 + TCGA-HU-A4H8-01 COSM4112972 c.419G>A p.R140H Substitution - Missense 3:12381430-12381430 + TCGA-06-0939 COSM2152381 c.668C>T p.A223V Substitution - Missense 3:12405930-12405930 + TCGA-DA-A1HW-06 COSM3586618 c.254G>A p.R85K Substitution - Missense 3:12379875-12379875 + TCGA-EW-A1IZ-01 COSM1484530 c.235G>A p.E79K Substitution - Missense 3:12379856-12379856 + TCGA-EE-A2GC-06 COSM3586689 c.641C>T p.P214L Substitution - Missense 3:12405903-12405903 + TCGA-D1-A17H-01 COSM1037497 c.169T>A p.S57T Substitution - Missense 3:12379790-12379790 + AOCS-139-12-5 COSM4138391 c.1515C>G p.Y505* Substitution - Nonsense 3:12434142-12434142 + TCGA-13-1411-01 COSM81607 c.1095T>C p.D365D Substitution - coding silent 3:12416979-12416979 + pfg008T COSM1642070 c.556A>G p.S186G Substitution - Missense 3:12392689-12392689 + T3658 COSM1642070 c.556A>G p.S186G Substitution - Missense 3:12392689-12392689 + tumor_4113825 COSM5947703 c.586C>A p.Q196K Substitution - Missense 3:12392719-12392719 + TCGA-FS-A1ZC-06 COSM3586708 c.1154G>A p.R385Q Substitution - Missense 3:12417038-12417038 + YUWAND COSM1692395 c.176C>T p.S59F Substitution - Missense 3:12379797-12379797 + TCGA-K4-A3WU-01 COSM3800995 c.783G>C p.A261A Substitution - coding silent 3:12406045-12406045 + pfg008T COSM1642070 c.556A>G p.S186G Substitution - Missense 3:12392689-12392689 + ESCC_28 COSM5627349 c.634C>T p.R212W Substitution - Missense 3:12405896-12405896 + TCGA-BS-A0UV-01 COSM1037580 c.789G>A p.A263A Substitution - coding silent 3:12406051-12406051 + PD2187a COSM26993 c.11C>G p.T4S Substitution - Missense 3:12351603-12351603 + AOCS-139-1-5 COSM4138391 c.1515C>G p.Y505* Substitution - Nonsense 3:12434142-12434142 + SH-0348 COSM4987222 c.34C>G p.P12A Substitution - Missense 3:12351626-12351626 + 2492710 COSM5717101 c.191C>T p.P64L Substitution - Missense 3:12379812-12379812 + TCGA-EE-A2MC-06 COSM3586616 c.179T>G p.F60C Substitution - Missense 3:12379800-12379800 + TCGA-EB-A431-01 COSM1692398 c.845C>T p.S282F Substitution - Missense 3:12416729-12416729 + SH-3458 COSM4987222 c.34C>G p.P12A Substitution - Missense 3:12351626-12351626 + 2492709 COSM5717101 c.191C>T p.P64L Substitution - Missense 3:12379812-12379812 + SH-3133 COSM4987222 c.34C>G p.P12A Substitution - Missense 3:12351626-12351626 + Case5 COSM5711856 c.566A>C p.K189T Substitution - Missense 3:12392699-12392699 + CSCC-29-T COSM3586548 c.3G>A p.M1I Substitution - Missense 3:12351595-12351595 + 54 COSM5436009 c.787G>A p.A263T Substitution - Missense 3:12406049-12406049 + TCGA-EE-A2MR-06 COSM3586625 c.605G>A p.G202E Substitution - Missense 3:12392738-12392738 + HCT15 COSM1669972 c.1348A>C p.K450Q Substitution - Missense 3:12433975-12433975 + SH-4435 COSM5020144 c.1452C>T p.I484I Substitution - coding silent 3:12434079-12434079 + B52-Tumor COSM581315 c.7G>A p.E3K Substitution - Missense 3:12351599-12351599 + TCGA-EE-A3AF-06 COSM3586707 c.1114G>A p.G372S Substitution - Missense 3:12416998-12416998 + YUKSI COSM5398021 c.488T>C p.F163S Substitution - Missense 3:12392621-12392621 + SH-7032 COSM4987222 c.34C>G p.P12A Substitution - Missense 3:12351626-12351626 + YUKLAB COSM1692396 c.398_399CC>TT p.S133F Substitution - Missense 3:12381409-12381410 + S03-45671-TP COSM1037602 c.1054G>A p.E352K Substitution - Missense 3:12416938-12416938 + TCGA-GD-A3OS-01 COSM1308513 c.1480C>T p.H494Y Substitution - Missense 3:12434107-12434107 + PT47 COSM5930228 c.83-8C>T p.? Unknown 3:12379696-12379696 + TCGA-D3-A51R-06 COSM3586709 c.1270+1G>A p.? Unknown 3:12417155-12417155 + TCGA-EE-A3JI-06 COSM3586690 c.657G>A p.E219E Substitution - coding silent 3:12405919-12405919 + TCGA-C5-A3HE-01 COSM4827607 c.181G>C p.D61H Substitution - Missense 3:12379802-12379802 + TCGA-BS-A0UV-01 COSM1037601 c.922C>T p.R308C Substitution - Missense 3:12416806-12416806 + HCT-15 COSM1669972 c.1348A>C p.K450Q Substitution - Missense 3:12433975-12433975 + TCGA-B0-5702-01 COSM479338 c.491G>A p.R164Q Substitution - Missense 3:12392624-12392624 + TCGA-D9-A149-06 COSM3586548 c.3G>A p.M1I Substitution - Missense 3:12351595-12351595 + TCGA-CH-5741-01 COSM1130352 c.1402A>G p.T468A Substitution - Missense 3:12434029-12434029 + TCGA-DU-6399-01 COSM3057955 c.1230C>T p.S410S Substitution - coding silent 3:12417114-12417114 + TCGA-EB-A5SE-01 COSM3586704 c.998G>A p.G333D Substitution - Missense 3:12416882-12416882 + TCGA-AP-A0LM-01 COSM1037500 c.532C>A p.L178I Substitution - Missense 3:12392665-12392665 + PCSI_0022_Pa_P COSM3781071 c.1481A>C p.H494P Substitution - Missense 3:12434108-12434108 + YUFOLD COSM1692397 c.703G>A p.E235K Substitution - Missense 3:12405965-12405965 + ESCC_BICR_010T COSM5436009 c.787G>A p.A263T Substitution - Missense 3:12406049-12406049 + MT-260-T2 COSM5651431 c.1237G>T p.A413S Substitution - Missense 3:12417121-12417121 + CSCC-55-T COSM4548745 c.455G>A p.G152E Substitution - Missense 3:12381466-12381466 + TCGA-EB-A5UN-06 COSM1037578 c.669G>A p.A223A Substitution - coding silent 3:12405931-12405931 + CSCC-27-T COSM2152381 c.668C>T p.A223V Substitution - Missense 3:12405930-12405930 + HCT8 COSM1669972 c.1348A>C p.K450Q Substitution - Missense 3:12433975-12433975 + TCGA-G2-A2EO-01 COSM1308509 c.870C>G p.I290M Substitution - Missense 3:12416754-12416754 + TCGA-B8-5545-01 COSM479336 c.327G>A p.E109E Substitution - coding silent 3:12381338-12381338 + SH-1641 COSM4002430 c.1431C>T p.H477H Substitution - coding silent 3:12434058-12434058 + SNUH_G10_S1 COSM4002430 c.1431C>T p.H477H Substitution - coding silent 3:12434058-12434058 + TCGA-AS-3777-01 COSM1495287 c.168C>G p.H56Q Substitution - Missense 3:12379789-12379789 + CRC-06T COSM5457566 c.147_148delTC p.S51fs*10 Deletion - Frameshift 3:12379768-12379769 + SNUH_G45_S1 COSM4002430 c.1431C>T p.H477H Substitution - coding silent 3:12434058-12434058 + DLD1 COSM1669972 c.1348A>C p.K450Q Substitution - Missense 3:12433975-12433975 + TCGA-06-0939-01 COSM2152381 c.668C>T p.A223V Substitution - Missense 3:12405930-12405930 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.162595;Hs.162646 3p25 601487

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K432T c.1295A>C 3 12475421 UCEC A G Missense p.E397G c.1190A>G 3 12458573 STAD A G Missense p.S186G c.556A>G 3 12434188 STAD A G Missense p.T468A c.1402A>G 3 12475528 PRAD C A Missense p.T356K c.1067C>A 3 12458450 LUAD C A Synonymous p.I484I c.1452C>A 3 12475578 LUAD C A Synonymous p.S59S c.177C>A 3 12421297 STAD CG AT Missense p.E371* c.1110_1111delinsAT 3 12458493 CM C G Missense p.I290M c.870C>G 3 12458253 BLCA C G Missense p.L242V c.724C>G 3 12447485 BRCA C G Missense p.P88A c.262C>G 3 12421382 LGG C T Missense p.A223V c.668C>T 3 12447429 GBM C T Missense p.H494Y c.1480C>T 3 12475606 BLCA C T Missense p.P214L c.641C>T 3 12447402 CM C T Missense p.R316C c.946C>T 3 12458329 CM C T Missense p.T487M c.1460C>T 3 12475586 STAD C T Nonsense p.Q100* c.298C>T 3 12421418 CM C T Synonymous p.I353I c.1059C>T 3 12458442 CM C T Synonymous p.I62I c.186C>T 3 12421306 CM C T Synonymous p.L368L c.1104C>T 3 12458487 CM C T Synonymous p.S410S c.1230C>T 3 12458613 LGG G A Missense p.E352K c.1054G>A 3 12458437 UCEC G A Missense p.E3K c.7G>A 3 12393098 LUAD G A Missense p.G372S c.1114G>A 3 12458497 CM G A Missense p.M1I c.3G>A 3 12393094 CM G A Missense p.R164Q c.491G>A 3 12434123 RCCC G A Missense p.R165K c.494G>A 3 12434126 CM G A Missense p.R385Q c.1154G>A 3 12458537 CM G A Missense p.R85K c.254G>A 3 12421374 CM G A Synonymous p.E109E c.327G>A 3 12422837 RCCC G A Synonymous p.E219E c.657G>A 3 12447418 CM G A Synonymous p.Q215Q c.645G>A 3 12447406 BRCA T A IntronicSNV . c.1270+1010T>A 3 12459663 CLL T A Missense p.I277N c.830T>A 3 12458213 LUAD T A Synonymous p.I416I c.1248T>A 3 12458631 LUAD T A Synonymous p.S112S c.336T>A 3 12422846 LUAD T C Synonymous p.D365D c.1095T>C 3 12458478 OV T G Missense p.F60C c.179T>G 3 12421299 CM T G Missense p.L97R c.290T>G 3 12421410 BRCA