Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 17 73565071 73565071 + Silent SNP C C A TCGA-OR-A5JD-01A-11D-A29I-10 TCGA-OR-A5JD-10B-01D-A29L-10 g.chr17:73565071C>A c.1335C>A c.(1333-1335)ggC>ggA p.G445G ACC 17 73565071 73565071 + Silent SNP C C A TCGA-OR-A5KV-01A-11D-A29I-10 TCGA-OR-A5KV-10A-01D-A29L-10 g.chr17:73565071C>A c.1335C>A c.(1333-1335)ggC>ggA p.G445G BLCA 17 73554290 73554290 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr17:73554290G>A c.228G>A c.(226-228)gtG>gtA p.V76V BLCA 17 73559178 73559178 + Silent SNP C C T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr17:73559178C>T c.612C>T c.(610-612)atC>atT p.I204I BLCA 17 73559467 73559467 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr17:73559467C>G c.749C>G c.(748-750)tCt>tGt p.S250C BLCA 17 73564621 73564621 + Missense_Mutation SNP G G C TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr17:73564621G>C c.1101G>C c.(1099-1101)caG>caC p.Q367H BLCA 17 73565329 73565329 + Missense_Mutation SNP G G A TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 g.chr17:73565329G>A c.1504G>A c.(1504-1506)Gac>Aac p.D502N BLCA 17 73565355 73565355 + Silent SNP C C A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr17:73565355C>A c.1530C>A c.(1528-1530)atC>atA p.I510I BLCA 17 73569202 73569202 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 g.chr17:73569202C>T c.2568C>T c.(2566-2568)gcC>gcT p.A856A BLCA 17 73569237 73569237 + Missense_Mutation SNP C C G TCGA-2F-A9KQ-01A-11D-A38G-08 TCGA-2F-A9KQ-11A-11D-A38J-08 g.chr17:73569237C>G c.2603C>G c.(2602-2604)aCc>aGc p.T868S BLCA 17 73570736 73570736 + Silent SNP C C A TCGA-2F-A9KR-01A-11D-A38G-08 TCGA-2F-A9KR-10A-01D-A38J-08 g.chr17:73570736C>A c.3042C>A c.(3040-3042)ctC>ctA p.L1014L BLCA 17 73570954 73570954 + Missense_Mutation SNP G G C TCGA-G2-AA3C-01A-21D-A391-08 TCGA-G2-AA3C-10A-01D-A394-08 g.chr17:73570954G>C c.3058G>C c.(3058-3060)Gag>Cag p.E1020Q BRCA 17 73555430 73555430 + Missense_Mutation SNP C C G TCGA-D8-A1XL-01A-11D-A14K-09 TCGA-D8-A1XL-10A-01D-A14K-09 g.chr17:73555430C>G c.469C>G c.(469-471)Cag>Gag p.Q157E BRCA 17 73560440 73560440 + Silent SNP C C T TCGA-A2-A4RX-01A-11D-A25Q-09 TCGA-A2-A4RX-10A-01D-A25Q-09 g.chr17:73560440C>T c.888C>T c.(886-888)ccC>ccT p.P296P BRCA 17 73560623 73560623 + Intron SNP G G A TCGA-B6-A0I1-01A-11D-A21Q-09 TCGA-B6-A0I1-10A-01D-A21Q-09 g.chr17:73560623G>A BRCA 17 73564696 73564696 + Silent SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 g.chr17:73564696C>T c.1176C>T c.(1174-1176)caC>caT p.H392H BRCA 17 73564904 73564904 + Missense_Mutation SNP G G C TCGA-A8-A09I-01A-22W-A050-09 TCGA-A8-A09I-10A-01W-A055-09 g.chr17:73564904G>C c.1306G>C c.(1306-1308)Gac>Cac p.D436H BRCA 17 73566549 73566549 + Silent SNP G G A TCGA-E9-A226-01A-21D-A159-09 TCGA-E9-A226-10A-01D-A159-09 g.chr17:73566549G>A c.1995G>A c.(1993-1995)cgG>cgA p.R665R CESC 17 73552126 73552126 + Splice_Site SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr17:73552126G>A c.e3-1 CESC 17 73559178 73559178 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 g.chr17:73559178C>T c.612C>T c.(610-612)atC>atT p.I204I CESC 17 73559502 73559502 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr17:73559502G>A c.784G>A c.(784-786)Gaa>Aaa p.E262K CESC 17 73560506 73560506 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr17:73560506C>G c.954C>G c.(952-954)atC>atG p.I318M CESC 17 73566530 73566530 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 g.chr17:73566530G>A c.1976G>A c.(1975-1977)cGg>cAg p.R659Q CHOL 17 73569305 73569305 + Missense_Mutation SNP C C T TCGA-W5-AA2X-01A-11D-A417-09 TCGA-W5-AA2X-10A-01D-A41A-09 g.chr17:73569305C>T c.2671C>T c.(2671-2673)Cgc>Tgc p.R891C COAD 17 73555350 73555350 + Missense_Mutation SNP C C T TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr17:73555350C>T c.389C>T c.(388-390)aCa>aTa p.T130I COAD 17 73555351 73555351 + Silent SNP A A G TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr17:73555351A>G c.390A>G c.(388-390)acA>acG p.T130T COAD 17 73559411 73559411 + Splice_Site SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr17:73559411G>A c.e8-1 COAD 17 73559535 73559535 + Missense_Mutation SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr17:73559535G>A c.817G>A c.(817-819)Gtg>Atg p.V273M COAD 17 73566317 73566317 + Missense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr17:73566317C>T c.1855C>T c.(1855-1857)Cgg>Tgg p.R619W COAD 17 73567139 73567139 + Missense_Mutation SNP T T C TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr17:73567139T>C c.2134T>C c.(2134-2136)Ttc>Ctc p.F712L COAD 17 73569139 73569139 + Silent SNP G G T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr17:73569139G>T c.2505G>T c.(2503-2505)ctG>ctT p.L835L COAD 17 73569164 73569164 + Missense_Mutation SNP C C T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr17:73569164C>T c.2530C>T c.(2530-2532)Cgg>Tgg p.R844W COADREAD 17 73555350 73555350 + Missense_Mutation SNP C C T TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr17:73555350C>T c.389C>T c.(388-390)aCa>aTa p.T130I COADREAD 17 73555351 73555351 + Silent SNP A A G TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr17:73555351A>G c.390A>G c.(388-390)acA>acG p.T130T COADREAD 17 73559411 73559411 + Splice_Site SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr17:73559411G>A c.e8-1 COADREAD 17 73559535 73559535 + Missense_Mutation SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr17:73559535G>A c.817G>A c.(817-819)Gtg>Atg p.V273M COADREAD 17 73565329 73565329 + Missense_Mutation SNP G G A TCGA-AG-3727-01A-01W-0899-10 TCGA-AG-3727-10A-01W-0901-10 g.chr17:73565329G>A c.1504G>A c.(1504-1506)Gac>Aac p.D502N COADREAD 17 73566317 73566317 + Missense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr17:73566317C>T c.1855C>T c.(1855-1857)Cgg>Tgg p.R619W COADREAD 17 73567139 73567139 + Missense_Mutation SNP T T C TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr17:73567139T>C c.2134T>C c.(2134-2136)Ttc>Ctc p.F712L COADREAD 17 73567846 73567846 + Missense_Mutation SNP C C T TCGA-CL-5918-01A-11D-1657-10 TCGA-CL-5918-10A-01D-1657-10 g.chr17:73567846C>T c.2275C>T c.(2275-2277)Cct>Tct p.P759S COADREAD 17 73569139 73569139 + Silent SNP G G T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr17:73569139G>T c.2505G>T c.(2503-2505)ctG>ctT p.L835L COADREAD 17 73569164 73569164 + Missense_Mutation SNP C C T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr17:73569164C>T c.2530C>T c.(2530-2532)Cgg>Tgg p.R844W DLBC 17 73552167 73552167 + Missense_Mutation SNP G G A TCGA-FF-8061-01A-11D-2210-10 TCGA-FF-8061-10A-01D-2210-10 g.chr17:73552167G>A c.116G>A c.(115-117)gGc>gAc p.G39D DLBC 17 73559453 73559453 + Silent SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr17:73559453C>T c.735C>T c.(733-735)ctC>ctT p.L245L DLBC 17 73566094 73566094 + Missense_Mutation SNP G G C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr17:73566094G>C c.1632G>C c.(1630-1632)caG>caC p.Q544H DLBC 17 73566469 73566469 + Missense_Mutation SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr17:73566469C>T c.1915C>T c.(1915-1917)Cca>Tca p.P639S DLBC 17 73569211 73569211 + Silent SNP C C T TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr17:73569211C>T c.2577C>T c.(2575-2577)taC>taT p.Y859Y ESCA 17 73552199 73552199 + Missense_Mutation SNP G G A TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 g.chr17:73552199G>A c.148G>A c.(148-150)Ggc>Agc p.G50S ESCA 17 73560612 73560612 + Intron SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr17:73560612G>A ESCA 17 73565329 73565329 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr17:73565329G>T c.1504G>T c.(1504-1506)Gac>Tac p.D502Y ESCA 17 73566270 73566270 + Missense_Mutation SNP T T C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 g.chr17:73566270T>C c.1808T>C c.(1807-1809)gTg>gCg p.V603A GBM 17 73555474 73555474 + Silent SNP G G C TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 g.chr17:73555474G>C c.513G>C c.(511-513)tcG>tcC p.S171S GBMLGG 17 73555474 73555474 + Silent SNP G G C TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 g.chr17:73555474G>C c.513G>C c.(511-513)tcG>tcC p.S171S GBMLGG 17 73566103 73566103 + Silent SNP C C T TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 g.chr17:73566103C>T c.1641C>T c.(1639-1641)gcC>gcT p.A547A GBMLGG 17 73567818 73567818 + Silent SNP G G A TCGA-HT-7601-01A-11D-2086-08 TCGA-HT-7601-10A-01D-2086-08 g.chr17:73567818G>A c.2247G>A c.(2245-2247)gtG>gtA p.V749V GBMLGG 17 73567853 73567853 + Missense_Mutation SNP G G A TCGA-HT-A74O-01A-11D-A32B-08 TCGA-HT-A74O-10A-01D-A329-08 g.chr17:73567853G>A c.2282G>A c.(2281-2283)cGg>cAg p.R761Q GBMLGG 17 73569667 73569667 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:73569667G>A c.2831G>A c.(2830-2832)cGc>cAc p.R944H GBMLGG 17 73570548 73570548 + Missense_Mutation SNP A A G TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 g.chr17:73570548A>G c.2968A>G c.(2968-2970)Atc>Gtc p.I990V HNSC 17 73564668 73564668 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr17:73564668A>G c.1148A>G c.(1147-1149)cAc>cGc p.H383R HNSC 17 73564757 73564757 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr17:73564757G>A c.1237G>A c.(1237-1239)Gca>Aca p.A413T HNSC 17 73564865 73564865 + Missense_Mutation SNP G G C TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 g.chr17:73564865G>C c.1267G>C c.(1267-1269)Gat>Cat p.D423H HNSC 17 73565309 73565309 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr17:73565309C>T c.1484C>T c.(1483-1485)tCc>tTc p.S495F HNSC 17 73568022 73568022 + Silent SNP C C A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 g.chr17:73568022C>A c.2337C>A c.(2335-2337)atC>atA p.I779I HNSC 17 73568131 73568131 + Missense_Mutation SNP G G C TCGA-T2-A6X2-01A-12D-A34J-08 TCGA-T2-A6X2-10B-01D-A34M-08 g.chr17:73568131G>C c.2446G>C c.(2446-2448)Gag>Cag p.E816Q HNSC 17 73569247 73569247 + Silent SNP C C T TCGA-CN-A640-01A-21D-A30E-08 TCGA-CN-A640-10A-01D-A30H-08 g.chr17:73569247C>T c.2613C>T c.(2611-2613)ggC>ggT p.G871G HNSC 17 73569302 73569302 + Missense_Mutation SNP A A G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr17:73569302A>G c.2668A>G c.(2668-2670)Atc>Gtc p.I890V KICH 17 73566231 73566231 + Frame_Shift_Del DEL T T - TCGA-KN-8424-01A-11D-2310-10 TCGA-KN-8424-11A-01D-2310-10 g.chr17:73566231delT c.1769delT c.(1768-1770)gtgfs p.V591fs KICH 17 73566232 73566232 + Frame_Shift_Del DEL T T - TCGA-KN-8424-01A-11D-2310-10 TCGA-KN-8424-11A-01D-2310-10 g.chr17:73566232delT c.1770delT c.(1768-1770)gttfs p.V591fs KIPAN 17 73565078 73565078 + Missense_Mutation SNP C C T TCGA-BP-4985-01A-01D-1462-08 TCGA-BP-4985-11A-01D-1462-08 g.chr17:73565078C>T c.1342C>T c.(1342-1344)Cgg>Tgg p.R448W KIPAN 17 73566231 73566231 + Frame_Shift_Del DEL T T - TCGA-KN-8424-01A-11D-2310-10 TCGA-KN-8424-11A-01D-2310-10 g.chr17:73566231delT c.1769delT c.(1768-1770)gtgfs p.V591fs KIPAN 17 73566232 73566232 + Frame_Shift_Del DEL T T - TCGA-KN-8424-01A-11D-2310-10 TCGA-KN-8424-11A-01D-2310-10 g.chr17:73566232delT c.1770delT c.(1768-1770)gttfs p.V591fs KIRC 17 73565078 73565078 + Missense_Mutation SNP C C T TCGA-BP-4985-01A-01D-1462-08 TCGA-BP-4985-11A-01D-1462-08 g.chr17:73565078C>T c.1342C>T c.(1342-1344)Cgg>Tgg p.R448W LGG 17 73566103 73566103 + Silent SNP C C T TCGA-VM-A8CD-01A-11D-A36O-08 TCGA-VM-A8CD-10A-01D-A367-08 g.chr17:73566103C>T c.1641C>T c.(1639-1641)gcC>gcT p.A547A LGG 17 73567818 73567818 + Silent SNP G G A TCGA-HT-7601-01A-11D-2086-08 TCGA-HT-7601-10A-01D-2086-08 g.chr17:73567818G>A c.2247G>A c.(2245-2247)gtG>gtA p.V749V LGG 17 73567853 73567853 + Missense_Mutation SNP G G A TCGA-HT-A74O-01A-11D-A32B-08 TCGA-HT-A74O-10A-01D-A329-08 g.chr17:73567853G>A c.2282G>A c.(2281-2283)cGg>cAg p.R761Q LGG 17 73569667 73569667 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:73569667G>A c.2831G>A c.(2830-2832)cGc>cAc p.R944H LGG 17 73570548 73570548 + Missense_Mutation SNP A A G TCGA-DB-A64Q-01A-11D-A29Q-08 TCGA-DB-A64Q-10A-01D-A29Q-08 g.chr17:73570548A>G c.2968A>G c.(2968-2970)Atc>Gtc p.I990V LIHC 17 73560534 73560534 + Frame_Shift_Del DEL T T - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr17:73560534delT c.982delT c.(982-984)ttcfs p.F328fs LIHC 17 73566143 73566143 + Missense_Mutation SNP C C A TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr17:73566143C>A c.1681C>A c.(1681-1683)Cac>Aac p.H561N LIHC 17 73566301 73566301 + Silent SNP C C T TCGA-DD-AACL-01A-11D-A40R-10 TCGA-DD-AACL-10A-01D-A40U-10 g.chr17:73566301C>T c.1839C>T c.(1837-1839)ctC>ctT p.L613L LIHC 17 73569581 73569581 + Silent SNP C C G TCGA-CC-A1HT-01A-11D-A12Z-10 TCGA-CC-A1HT-10A-01D-A12Z-10 g.chr17:73569581C>G c.2745C>G c.(2743-2745)ccC>ccG p.P915P LIHC 17 73570325 73570325 + Silent SNP T T C TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr17:73570325T>C c.2937T>C c.(2935-2937)gcT>gcC p.A979A LUAD 17 73539528 73539528 + Silent SNP A A T TCGA-55-8203-01A-11D-2238-08 TCGA-55-8203-10A-01D-2238-08 g.chr17:73539528A>T c.21A>T c.(19-21)ccA>ccT p.P7P LUAD 17 73539531 73539531 + Silent SNP G G T TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr17:73539531G>T c.24G>T c.(22-24)ggG>ggT p.G8G LUAD 17 73554252 73554252 + Missense_Mutation SNP G G T TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr17:73554252G>T c.190G>T c.(190-192)Gtg>Ttg p.V64L LUAD 17 73559175 73559175 + Silent SNP G G A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 g.chr17:73559175G>A c.609G>A c.(607-609)caG>caA p.Q203Q LUAD 17 73559442 73559442 + Missense_Mutation SNP G G A TCGA-62-A470-01A-11D-A24D-08 TCGA-62-A470-10A-01D-A24F-08 g.chr17:73559442G>A c.724G>A c.(724-726)Ggc>Agc p.G242S LUAD 17 73566089 73566089 + Nonsense_Mutation SNP G G T TCGA-97-7937-01A-11D-2167-08 TCGA-97-7937-10A-01D-2167-08 g.chr17:73566089G>T c.1627G>T c.(1627-1629)Gag>Tag p.E543* LUAD 17 73566135 73566135 + Missense_Mutation SNP G G T TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr17:73566135G>T c.1673G>T c.(1672-1674)tGg>tTg p.W558L LUAD 17 73566162 73566162 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 g.chr17:73566162G>A c.1700G>A c.(1699-1701)cGc>cAc p.R567H LUAD 17 73566508 73566508 + Nonsense_Mutation SNP C C T TCGA-73-4675-01A-01D-1265-08 TCGA-73-4675-11A-01D-1265-08 g.chr17:73566508C>T c.1954C>T c.(1954-1956)Cag>Tag p.Q652* LUAD 17 73567113 73567113 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr17:73567113G>T c.2108G>T c.(2107-2109)cGc>cTc p.R703L LUAD 17 73567787 73567787 + Missense_Mutation SNP G G T TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr17:73567787G>T c.2216G>T c.(2215-2217)gGg>gTg p.G739V LUAD 17 73568119 73568119 + Missense_Mutation SNP C C G TCGA-MP-A4TC-01A-11D-A24P-08 TCGA-MP-A4TC-10A-01D-A24P-08 g.chr17:73568119C>G c.2434C>G c.(2434-2436)Ctc>Gtc p.L812V LUAD 17 73569271 73569271 + Silent SNP C C T TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 g.chr17:73569271C>T c.2637C>T c.(2635-2637)ccC>ccT p.P879P LUSC 17 73560510 73560510 + Missense_Mutation SNP G G A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr17:73560510G>A c.958G>A c.(958-960)Gat>Aat p.D320N LUSC 17 73566264 73566264 + Missense_Mutation SNP G G A TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 g.chr17:73566264G>A c.1802G>A c.(1801-1803)cGg>cAg p.R601Q LUSC 17 73569291 73569291 + Missense_Mutation SNP G G A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 g.chr17:73569291G>A c.2657G>A c.(2656-2658)cGc>cAc p.R886H OV 17 73552202 73552208 + Frame_Shift_Del DEL ACCCGTT ACCCGTT - TCGA-29-1761-01A-01W-0633-09 TCGA-29-1761-10A-01W-0633-09 g.chr17:73552202_73552208delACCCGTT c.151_157delACCCGTT c.(151-159)acccgttctfs p.TRS51fs OV 17 73555350 73555350 + Missense_Mutation SNP C C G TCGA-13-0800-01A-01W-0372-09 TCGA-13-0800-10A-01W-0372-09 g.chr17:73555350C>G c.389C>G c.(388-390)aCa>aGa p.T130R OV 17 73560554 73560568 + In_Frame_Del DEL CTTCACTGTCCTCAC CTTCACTGTCCTCAC - TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 g.chr17:73560554_73560568delCTTCACTGTCCTCAC c.1002_1016delCTTCACTGTCCTCAC c.(1000-1017)ggcttcactgtcctcaca>gga p.FTVLT335del OV 17 73567116 73567116 + Missense_Mutation SNP C C G TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 g.chr17:73567116C>G c.2111C>G c.(2110-2112)tCg>tGg p.S704W PAAD 17 73560573 73560573 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:73560573G>A c.1021G>A c.(1021-1023)Gca>Aca p.A341T PAAD 17 73566151 73566151 + Silent SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:73566151C>A c.1689C>A c.(1687-1689)cgC>cgA p.R563R PAAD 17 73566533 73566533 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:73566533G>T c.1979G>T c.(1978-1980)aGc>aTc p.S660I PAAD 17 73567098 73567098 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 g.chr17:73567098G>A c.2093G>A c.(2092-2094)cGc>cAc p.R698H PRAD 17 73559543 73559543 + Splice_Site SNP C C T TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr17:73559543C>T c.825C>T c.(823-825)taC>taT p.Y275Y PRAD 17 73569164 73569164 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:73569164C>T c.2530C>T c.(2530-2532)Cgg>Tgg p.R844W READ 17 73565329 73565329 + Missense_Mutation SNP G G A TCGA-AG-3727-01A-01W-0899-10 TCGA-AG-3727-10A-01W-0901-10 g.chr17:73565329G>A c.1504G>A c.(1504-1506)Gac>Aac p.D502N READ 17 73567846 73567846 + Missense_Mutation SNP C C T TCGA-CL-5918-01A-11D-1657-10 TCGA-CL-5918-10A-01D-1657-10 g.chr17:73567846C>T c.2275C>T c.(2275-2277)Cct>Tct p.P759S SARC 17 73559835 73559835 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr17:73559835C>A c.829C>A c.(829-831)Ccc>Acc p.P277T SKCM 17 73539582 73539582 + Splice_Site SNP G G A TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr17:73539582G>A c.75G>A c.(73-75)aaG>aaA p.K25K SKCM 17 73539582 73539583 + Splice_Site INS - - GT TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr17:73539582_73539583insGT c.75_75insGT c.(76-78)acg>acGTg p.T26fs SKCM 17 73552144 73552144 + Silent SNP C C T TCGA-EE-A2MM-06A-11D-A196-08 TCGA-EE-A2MM-10A-01D-A198-08 g.chr17:73552144C>T c.93C>T c.(91-93)ttC>ttT p.F31F SKCM 17 73554278 73554278 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr17:73554278G>A c.216G>A c.(214-216)gaG>gaA p.E72E SKCM 17 73554625 73554625 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:73554625C>T c.288C>T c.(286-288)agC>agT p.S96S SKCM 17 73555366 73555366 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr17:73555366C>T c.405C>T c.(403-405)gtC>gtT p.V135V SKCM 17 73559139 73559139 + Silent SNP G G A TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr17:73559139G>A c.573G>A c.(571-573)gtG>gtA p.V191V SKCM 17 73559526 73559526 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 g.chr17:73559526C>T c.808C>T c.(808-810)Cgc>Tgc p.R270C SKCM 17 73559842 73559842 + Missense_Mutation SNP C C T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr17:73559842C>T c.836C>T c.(835-837)cCt>cTt p.P279L SKCM 17 73559867 73559867 + Silent SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr17:73559867C>T c.861C>T c.(859-861)ctC>ctT p.L287L SKCM 17 73559887 73559887 + Splice_Site SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr17:73559887G>A c.881G>A c.(880-882)gGg>gAg p.G294E SKCM 17 73560510 73560510 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr17:73560510G>A c.958G>A c.(958-960)Gat>Aat p.D320N SKCM 17 73564710 73564710 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr17:73564710C>T c.1190C>T c.(1189-1191)cCg>cTg p.P397L SKCM 17 73565087 73565087 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr17:73565087G>A c.1351G>A c.(1351-1353)Gat>Aat p.D451N SKCM 17 73565333 73565333 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr17:73565333C>T c.1508C>T c.(1507-1509)cCc>cTc p.P503L SKCM 17 73566141 73566141 + Missense_Mutation SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr17:73566141G>A c.1679G>A c.(1678-1680)gGg>gAg p.G560E SKCM 17 73566202 73566202 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:73566202C>T c.1740C>T c.(1738-1740)ttC>ttT p.F580F SKCM 17 73566310 73566310 + Silent SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr17:73566310C>T c.1848C>T c.(1846-1848)caC>caT p.H616H SKCM 17 73567066 73567066 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:73567066C>T c.2061C>T c.(2059-2061)ggC>ggT p.G687G SKCM 17 73567141 73567141 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr17:73567141C>T c.2136C>T c.(2134-2136)ttC>ttT p.F712F SKCM 17 73567141 73567141 + Silent SNP C C T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr17:73567141C>T c.2136C>T c.(2134-2136)ttC>ttT p.F712F SKCM 17 73567144 73567144 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:73567144C>T c.2139C>T c.(2137-2139)gtC>gtT p.V713V SKCM 17 73567827 73567827 + Silent SNP C C T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 g.chr17:73567827C>T c.2256C>T c.(2254-2256)gcC>gcT p.A752A SKCM 17 73567847 73567847 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 g.chr17:73567847C>T c.2276C>T c.(2275-2277)cCt>cTt p.P759L SKCM 17 73568065 73568065 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr17:73568065G>A c.2380G>A c.(2380-2382)Gaa>Aaa p.E794K SKCM 17 73569201 73569201 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr17:73569201C>T c.2567C>T c.(2566-2568)gCc>gTc p.A856V SKCM 17 73569202 73569202 + Silent SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr17:73569202C>T c.2568C>T c.(2566-2568)gcC>gcT p.A856A SKCM 17 73569208 73569208 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:73569208C>T c.2574C>T c.(2572-2574)gaC>gaT p.D858D SKCM 17 73569259 73569259 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr17:73569259G>A c.2625G>A c.(2623-2625)gtG>gtA p.V875V SKCM 17 73569264 73569264 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:73569264C>T c.2630C>T c.(2629-2631)tCg>tTg p.S877L SKCM 17 73569281 73569281 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 g.chr17:73569281C>T c.2647C>T c.(2647-2649)Ccc>Tcc p.P883S SKCM 17 73569340 73569340 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr17:73569340C>T c.2706C>T c.(2704-2706)gtC>gtT p.V902V SKCM 17 73569591 73569591 + Missense_Mutation SNP G G A TCGA-EE-A2GL-06A-11D-A196-08 TCGA-EE-A2GL-10A-01D-A198-08 g.chr17:73569591G>A c.2755G>A c.(2755-2757)Gag>Aag p.E919K SKCM 17 73569692 73569692 + Silent SNP G G A TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr17:73569692G>A c.2856G>A c.(2854-2856)aaG>aaA p.K952K

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 17 73520484 73520484 single base substitution G A upstream_gene_variant BLCA-CN 17 73559464 73559464 single base substitution A C downstream_gene_variant BLCA-CN 17 73559464 73559464 single base substitution A C exon_variant BLCA-CN 17 73559464 73559464 single base substitution A C missense_variant H249P 746A>C BLCA-CN 17 73559464 73559464 single base substitution A C upstream_gene_variant BLCA-CN 17 73559471 73559471 single base substitution C T downstream_gene_variant BLCA-CN 17 73559471 73559471 single base substitution C T exon_variant BLCA-CN 17 73559471 73559471 single base substitution C T synonymous_variant D251D 753C>T BLCA-CN 17 73559471 73559471 single base substitution C T upstream_gene_variant BLCA-CN 17 73560581 73560581 single base substitution T C downstream_gene_variant BLCA-CN 17 73560581 73560581 single base substitution T C exon_variant BLCA-CN 17 73560581 73560581 single base substitution T C synonymous_variant P343P 1029T>C BLCA-CN 17 73560581 73560581 single base substitution T C upstream_gene_variant BLCA-US 17 73554290 73554290 single base substitution G A downstream_gene_variant BLCA-US 17 73554290 73554290 single base substitution G A exon_variant BLCA-US 17 73554290 73554290 single base substitution G A synonymous_variant V76V 228G>A BLCA-US 17 73554290 73554290 single base substitution G A synonymous_variant V77V 231G>A BLCA-US 17 73554290 73554290 single base substitution G A upstream_gene_variant BLCA-US 17 73559178 73559178 single base substitution C T downstream_gene_variant BLCA-US 17 73559178 73559178 single base substitution C T exon_variant BLCA-US 17 73559178 73559178 single base substitution C T synonymous_variant I204I 612C>T BLCA-US 17 73559178 73559178 single base substitution C T upstream_gene_variant BLCA-US 17 73559467 73559467 single base substitution C G downstream_gene_variant BLCA-US 17 73559467 73559467 single base substitution C G exon_variant BLCA-US 17 73559467 73559467 single base substitution C G missense_variant S250C 749C>G BLCA-US 17 73559467 73559467 single base substitution C G upstream_gene_variant BLCA-US 17 73569202 73569202 single base substitution C T 3_prime_UTR_variant BLCA-US 17 73569202 73569202 single base substitution C T downstream_gene_variant BLCA-US 17 73569202 73569202 single base substitution C T exon_variant BLCA-US 17 73569202 73569202 single base substitution C T synonymous_variant A856A 2568C>T BLCA-US 17 73569202 73569202 single base substitution C T upstream_gene_variant BLCA-US 17 73569700 73569700 insertion of <=200bp - G 3_prime_UTR_variant BLCA-US 17 73569700 73569700 insertion of <=200bp - G downstream_gene_variant BLCA-US 17 73569700 73569700 insertion of <=200bp - G exon_variant BLCA-US 17 73569700 73569700 insertion of <=200bp - G frameshift_variant P955R? BLCA-US 17 73569700 73569700 insertion of <=200bp - G upstream_gene_variant BOCA-FR 17 73567828 73567828 single base substitution G A 3_prime_UTR_variant BOCA-FR 17 73567828 73567828 single base substitution G A downstream_gene_variant BOCA-FR 17 73567828 73567828 single base substitution G A exon_variant BOCA-FR 17 73567828 73567828 single base substitution G A missense_variant E753K 2257G>A BOCA-FR 17 73567828 73567828 single base substitution G A upstream_gene_variant BRCA-EU 17 73517685 73517685 single base substitution A G upstream_gene_variant BRCA-EU 17 73518619 73518621 deletion of <=200bp AAG - upstream_gene_variant BRCA-EU 17 73518692 73518692 single base substitution T C upstream_gene_variant BRCA-EU 17 73519217 73519217 single base substitution G A upstream_gene_variant BRCA-EU 17 73520479 73520479 single base substitution G T upstream_gene_variant BRCA-EU 17 73521045 73521047 deletion of <=200bp GGA - upstream_gene_variant BRCA-EU 17 73521450 73521450 single base substitution C T intron_variant BRCA-EU 17 73521450 73521450 single base substitution C T upstream_gene_variant BRCA-EU 17 73521542 73521542 single base substitution G A intron_variant BRCA-EU 17 73521542 73521542 single base substitution G A upstream_gene_variant BRCA-EU 17 73521550 73521550 single base substitution T C intron_variant BRCA-EU 17 73521550 73521550 single base substitution T C upstream_gene_variant BRCA-EU 17 73521688 73521688 single base substitution G C intron_variant BRCA-EU 17 73521688 73521688 single base substitution G C upstream_gene_variant BRCA-EU 17 73523552 73523552 single base substitution C T intron_variant BRCA-EU 17 73524257 73524257 single base substitution C T intron_variant BRCA-EU 17 73524257 73524257 single base substitution C T upstream_gene_variant BRCA-EU 17 73525132 73525132 single base substitution G C intron_variant BRCA-EU 17 73525132 73525132 single base substitution G C upstream_gene_variant BRCA-EU 17 73525718 73525718 single base substitution C T intron_variant BRCA-EU 17 73525718 73525718 single base substitution C T upstream_gene_variant BRCA-EU 17 73526328 73526328 single base substitution A C intron_variant BRCA-EU 17 73526328 73526328 single base substitution A C upstream_gene_variant BRCA-EU 17 73531405 73531405 single base substitution G A intron_variant BRCA-EU 17 73531584 73531584 single base substitution C T intron_variant BRCA-EU 17 73533503 73533503 single base substitution G A intron_variant BRCA-EU 17 73535202 73535202 single base substitution G C intron_variant BRCA-EU 17 73535202 73535202 single base substitution G C upstream_gene_variant BRCA-EU 17 73535711 73535711 single base substitution C G intron_variant BRCA-EU 17 73535711 73535711 single base substitution C G upstream_gene_variant BRCA-EU 17 73537381 73537381 single base substitution G C intron_variant BRCA-EU 17 73537381 73537381 single base substitution G C upstream_gene_variant BRCA-EU 17 73538542 73538542 single base substitution C A intron_variant BRCA-EU 17 73538542 73538542 single base substitution C A upstream_gene_variant BRCA-EU 17 73538619 73538619 single base substitution A G intron_variant BRCA-EU 17 73538619 73538619 single base substitution A G upstream_gene_variant BRCA-EU 17 73539429 73539429 single base substitution G C 5_prime_UTR_variant BRCA-EU 17 73539429 73539429 single base substitution G C intron_variant BRCA-EU 17 73539429 73539429 single base substitution G C upstream_gene_variant BRCA-EU 17 73540946 73540946 single base substitution G A intron_variant BRCA-EU 17 73540946 73540946 single base substitution G A upstream_gene_variant BRCA-EU 17 73541135 73541135 single base substitution T G intron_variant BRCA-EU 17 73541135 73541135 single base substitution T G upstream_gene_variant BRCA-EU 17 73544015 73544015 single base substitution G A intron_variant BRCA-EU 17 73544731 73544731 single base substitution A G intron_variant BRCA-EU 17 73545624 73545624 single base substitution C T intron_variant BRCA-EU 17 73546039 73546039 single base substitution T G intron_variant BRCA-EU 17 73547570 73547570 deletion of <=200bp G - intron_variant BRCA-EU 17 73547855 73547855 single base substitution T C intron_variant BRCA-EU 17 73549418 73549418 single base substitution C G intron_variant BRCA-EU 17 73549418 73549418 single base substitution C G upstream_gene_variant BRCA-EU 17 73550945 73550945 single base substitution G C intron_variant BRCA-EU 17 73550945 73550945 single base substitution G C upstream_gene_variant BRCA-EU 17 73551520 73551520 single base substitution C G intron_variant BRCA-EU 17 73551520 73551520 single base substitution C G upstream_gene_variant BRCA-EU 17 73551667 73551667 single base substitution G T intron_variant BRCA-EU 17 73551667 73551667 single base substitution G T upstream_gene_variant BRCA-EU 17 73554075 73554075 single base substitution C T downstream_gene_variant BRCA-EU 17 73554075 73554075 single base substitution C T exon_variant BRCA-EU 17 73554075 73554075 single base substitution C T intron_variant BRCA-EU 17 73554075 73554075 single base substitution C T upstream_gene_variant BRCA-EU 17 73555163 73555163 single base substitution C T downstream_gene_variant BRCA-EU 17 73555163 73555163 single base substitution C T exon_variant BRCA-EU 17 73555163 73555163 single base substitution C T intron_variant BRCA-EU 17 73555163 73555163 single base substitution C T upstream_gene_variant BRCA-EU 17 73555474 73555474 single base substitution G C downstream_gene_variant BRCA-EU 17 73555474 73555474 single base substitution G C exon_variant BRCA-EU 17 73555474 73555474 single base substitution G C synonymous_variant S171S 513G>C BRCA-EU 17 73555474 73555474 single base substitution G C upstream_gene_variant BRCA-EU 17 73555478 73555478 single base substitution G A downstream_gene_variant BRCA-EU 17 73555478 73555478 single base substitution G A exon_variant BRCA-EU 17 73555478 73555478 single base substitution G A missense_variant A173T 517G>A BRCA-EU 17 73555478 73555478 single base substitution G A upstream_gene_variant BRCA-EU 17 73555530 73555530 single base substitution C G downstream_gene_variant BRCA-EU 17 73555530 73555530 single base substitution C G intron_variant BRCA-EU 17 73555530 73555530 single base substitution C G upstream_gene_variant BRCA-EU 17 73555681 73555681 single base substitution C G downstream_gene_variant BRCA-EU 17 73555681 73555681 single base substitution C G intron_variant BRCA-EU 17 73555681 73555681 single base substitution C G upstream_gene_variant BRCA-EU 17 73556275 73556275 single base substitution G C downstream_gene_variant BRCA-EU 17 73556275 73556275 single base substitution G C intron_variant BRCA-EU 17 73556275 73556275 single base substitution G C upstream_gene_variant BRCA-EU 17 73557936 73557936 single base substitution G A downstream_gene_variant BRCA-EU 17 73557936 73557936 single base substitution G A intron_variant BRCA-EU 17 73557936 73557936 single base substitution G A upstream_gene_variant BRCA-EU 17 73558073 73558073 single base substitution T A downstream_gene_variant BRCA-EU 17 73558073 73558073 single base substitution T A intron_variant BRCA-EU 17 73558073 73558073 single base substitution T A upstream_gene_variant BRCA-EU 17 73558658 73558658 deletion of <=200bp T - downstream_gene_variant BRCA-EU 17 73558658 73558658 deletion of <=200bp T - exon_variant BRCA-EU 17 73558658 73558658 deletion of <=200bp T - intron_variant BRCA-EU 17 73558658 73558658 deletion of <=200bp T - upstream_gene_variant BRCA-EU 17 73558703 73558703 single base substitution G T downstream_gene_variant BRCA-EU 17 73558703 73558703 single base substitution G T exon_variant BRCA-EU 17 73558703 73558703 single base substitution G T intron_variant BRCA-EU 17 73558703 73558703 single base substitution G T upstream_gene_variant BRCA-EU 17 73560196 73560197 deletion of <=200bp AG - downstream_gene_variant BRCA-EU 17 73560196 73560197 deletion of <=200bp AG - intron_variant BRCA-EU 17 73560196 73560197 deletion of <=200bp AG - upstream_gene_variant BRCA-EU 17 73561545 73561545 single base substitution C T downstream_gene_variant BRCA-EU 17 73561545 73561545 single base substitution C T intron_variant BRCA-EU 17 73561545 73561545 single base substitution C T upstream_gene_variant BRCA-EU 17 73561578 73561578 single base substitution G C downstream_gene_variant BRCA-EU 17 73561578 73561578 single base substitution G C intron_variant BRCA-EU 17 73561578 73561578 single base substitution G C upstream_gene_variant BRCA-EU 17 73562541 73562541 single base substitution T G downstream_gene_variant BRCA-EU 17 73562541 73562541 single base substitution T G intron_variant BRCA-EU 17 73562541 73562541 single base substitution T G upstream_gene_variant BRCA-EU 17 73563066 73563066 single base substitution G A downstream_gene_variant BRCA-EU 17 73563066 73563066 single base substitution G A intron_variant BRCA-EU 17 73563066 73563066 single base substitution G A upstream_gene_variant BRCA-EU 17 73563364 73563364 single base substitution G A downstream_gene_variant BRCA-EU 17 73563364 73563364 single base substitution G A intron_variant BRCA-EU 17 73563364 73563364 single base substitution G A upstream_gene_variant BRCA-EU 17 73563675 73563675 single base substitution G A downstream_gene_variant BRCA-EU 17 73563675 73563675 single base substitution G A intron_variant BRCA-EU 17 73563675 73563675 single base substitution G A upstream_gene_variant BRCA-EU 17 73563951 73563951 single base substitution G T downstream_gene_variant BRCA-EU 17 73563951 73563951 single base substitution G T intron_variant BRCA-EU 17 73563951 73563951 single base substitution G T upstream_gene_variant BRCA-EU 17 73564037 73564037 single base substitution A G downstream_gene_variant BRCA-EU 17 73564037 73564037 single base substitution A G exon_variant BRCA-EU 17 73564037 73564037 single base substitution A G intron_variant BRCA-EU 17 73564037 73564037 single base substitution A G upstream_gene_variant BRCA-EU 17 73566162 73566162 single base substitution G T 3_prime_UTR_variant BRCA-EU 17 73566162 73566162 single base substitution G T exon_variant BRCA-EU 17 73566162 73566162 single base substitution G T missense_variant R567L 1700G>T BRCA-EU 17 73566162 73566162 single base substitution G T upstream_gene_variant BRCA-EU 17 73566194 73566194 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 73566194 73566194 single base substitution C T exon_variant BRCA-EU 17 73566194 73566194 single base substitution C T stop_gained Q578* 1732C>T BRCA-EU 17 73566194 73566194 single base substitution C T upstream_gene_variant BRCA-EU 17 73568171 73568171 single base substitution C A downstream_gene_variant BRCA-EU 17 73568171 73568171 single base substitution C A intron_variant BRCA-EU 17 73568171 73568171 single base substitution C A upstream_gene_variant BRCA-EU 17 73568324 73568324 insertion of <=200bp - G downstream_gene_variant BRCA-EU 17 73568324 73568324 insertion of <=200bp - G intron_variant BRCA-EU 17 73568324 73568324 insertion of <=200bp - G upstream_gene_variant BRCA-EU 17 73569014 73569014 single base substitution G A downstream_gene_variant BRCA-EU 17 73569014 73569014 single base substitution G A intron_variant BRCA-EU 17 73569014 73569014 single base substitution G A upstream_gene_variant BRCA-EU 17 73570812 73570812 single base substitution C T downstream_gene_variant BRCA-EU 17 73570812 73570812 single base substitution C T intron_variant BRCA-EU 17 73572053 73572053 single base substitution G A downstream_gene_variant BRCA-EU 17 73572163 73572163 single base substitution C A downstream_gene_variant BRCA-EU 17 73572825 73572825 single base substitution A T downstream_gene_variant BRCA-EU 17 73573419 73573419 single base substitution C T downstream_gene_variant BRCA-EU 17 73574064 73574064 single base substitution C T downstream_gene_variant BRCA-EU 17 73574153 73574153 single base substitution C G downstream_gene_variant BRCA-EU 17 73574266 73574266 single base substitution C T downstream_gene_variant BRCA-EU 17 73574493 73574493 single base substitution C T downstream_gene_variant BRCA-EU 17 73574815 73574815 single base substitution C T downstream_gene_variant BRCA-EU 17 73574947 73574947 single base substitution C T downstream_gene_variant BRCA-EU 17 73575312 73575312 single base substitution C G downstream_gene_variant BRCA-FR 17 73525718 73525718 single base substitution C T intron_variant BRCA-FR 17 73525718 73525718 single base substitution C T upstream_gene_variant BRCA-FR 17 73530118 73530118 single base substitution G C intron_variant BRCA-FR 17 73547183 73547183 single base substitution G A intron_variant BRCA-FR 17 73552020 73552020 single base substitution A T intron_variant BRCA-FR 17 73552020 73552020 single base substitution A T upstream_gene_variant BRCA-FR 17 73555474 73555474 single base substitution G C downstream_gene_variant BRCA-FR 17 73555474 73555474 single base substitution G C exon_variant BRCA-FR 17 73555474 73555474 single base substitution G C synonymous_variant S171S 513G>C BRCA-FR 17 73555474 73555474 single base substitution G C upstream_gene_variant BRCA-FR 17 73561545 73561545 single base substitution C T downstream_gene_variant BRCA-FR 17 73561545 73561545 single base substitution C T intron_variant BRCA-FR 17 73561545 73561545 single base substitution C T upstream_gene_variant BRCA-FR 17 73561664 73561664 single base substitution T G downstream_gene_variant BRCA-FR 17 73561664 73561664 single base substitution T G intron_variant BRCA-FR 17 73561664 73561664 single base substitution T G upstream_gene_variant BRCA-FR 17 73569014 73569014 single base substitution G A downstream_gene_variant BRCA-FR 17 73569014 73569014 single base substitution G A intron_variant BRCA-FR 17 73569014 73569014 single base substitution G A upstream_gene_variant BRCA-FR 17 73573277 73573277 single base substitution G A downstream_gene_variant BRCA-FR 17 73574064 73574064 single base substitution C T downstream_gene_variant BRCA-FR 17 73574153 73574153 single base substitution C G downstream_gene_variant BRCA-FR 17 73574266 73574266 single base substitution C T downstream_gene_variant BRCA-FR 17 73574493 73574493 single base substitution C T downstream_gene_variant BRCA-FR 17 73574815 73574815 single base substitution C T downstream_gene_variant BRCA-FR 17 73574947 73574947 single base substitution C T downstream_gene_variant BRCA-FR 17 73575226 73575226 single base substitution G A downstream_gene_variant BRCA-FR 17 73575312 73575312 single base substitution C G downstream_gene_variant BRCA-FR 17 73575353 73575353 single base substitution G A downstream_gene_variant BRCA-UK 17 73552886 73552886 single base substitution C T downstream_gene_variant BRCA-UK 17 73552886 73552886 single base substitution C T intron_variant BRCA-UK 17 73552886 73552886 single base substitution C T upstream_gene_variant BRCA-UK 17 73555478 73555478 single base substitution G A downstream_gene_variant BRCA-UK 17 73555478 73555478 single base substitution G A exon_variant BRCA-UK 17 73555478 73555478 single base substitution G A missense_variant A173T 517G>A BRCA-UK 17 73555478 73555478 single base substitution G A upstream_gene_variant BRCA-UK 17 73572163 73572163 single base substitution C A downstream_gene_variant BRCA-US 17 73517571 73517571 single base substitution G C upstream_gene_variant BRCA-US 17 73517943 73517943 single base substitution C A upstream_gene_variant BRCA-US 17 73519777 73519777 single base substitution C A upstream_gene_variant BRCA-US 17 73519828 73519828 single base substitution T G upstream_gene_variant BRCA-US 17 73520470 73520470 single base substitution T C upstream_gene_variant BRCA-US 17 73555430 73555430 single base substitution C G downstream_gene_variant BRCA-US 17 73555430 73555430 single base substitution C G exon_variant BRCA-US 17 73555430 73555430 single base substitution C G missense_variant Q157E 469C>G BRCA-US 17 73555430 73555430 single base substitution C G upstream_gene_variant BRCA-US 17 73560440 73560440 single base substitution C T downstream_gene_variant BRCA-US 17 73560440 73560440 single base substitution C T exon_variant BRCA-US 17 73560440 73560440 single base substitution C T synonymous_variant P296P 888C>T BRCA-US 17 73560440 73560440 single base substitution C T upstream_gene_variant BRCA-US 17 73560623 73560623 single base substitution G A downstream_gene_variant BRCA-US 17 73560623 73560623 single base substitution G A exon_variant BRCA-US 17 73560623 73560623 single base substitution G A intron_variant BRCA-US 17 73560623 73560623 single base substitution G A stop_retained_variant *357* 1071G>A BRCA-US 17 73560623 73560623 single base substitution G A upstream_gene_variant BRCA-US 17 73564696 73564696 single base substitution C T downstream_gene_variant BRCA-US 17 73564696 73564696 single base substitution C T exon_variant BRCA-US 17 73564696 73564696 single base substitution C T intron_variant BRCA-US 17 73564696 73564696 single base substitution C T synonymous_variant H392H 1176C>T BRCA-US 17 73564696 73564696 single base substitution C T upstream_gene_variant BRCA-US 17 73564904 73564904 single base substitution G C 3_prime_UTR_variant BRCA-US 17 73564904 73564904 single base substitution G C downstream_gene_variant BRCA-US 17 73564904 73564904 single base substitution G C exon_variant BRCA-US 17 73564904 73564904 single base substitution G C missense_variant D436H 1306G>C BRCA-US 17 73564904 73564904 single base substitution G C upstream_gene_variant BRCA-US 17 73566549 73566549 single base substitution G A 3_prime_UTR_variant BRCA-US 17 73566549 73566549 single base substitution G A downstream_gene_variant BRCA-US 17 73566549 73566549 single base substitution G A exon_variant BRCA-US 17 73566549 73566549 single base substitution G A synonymous_variant R665R 1995G>A BRCA-US 17 73566549 73566549 single base substitution G A upstream_gene_variant BTCA-JP 17 73518240 73518240 single base substitution G A upstream_gene_variant BTCA-JP 17 73520317 73520317 single base substitution C T upstream_gene_variant BTCA-JP 17 73554144 73554144 single base substitution G C downstream_gene_variant BTCA-JP 17 73554144 73554144 single base substitution G C exon_variant BTCA-JP 17 73554144 73554144 single base substitution G C intron_variant BTCA-JP 17 73554144 73554144 single base substitution G C upstream_gene_variant BTCA-JP 17 73554222 73554222 single base substitution G C downstream_gene_variant BTCA-JP 17 73554222 73554222 single base substitution G C exon_variant BTCA-JP 17 73554222 73554222 single base substitution G C intron_variant BTCA-JP 17 73554222 73554222 single base substitution G C upstream_gene_variant BTCA-JP 17 73566123 73566123 single base substitution A G 3_prime_UTR_variant BTCA-JP 17 73566123 73566123 single base substitution A G exon_variant BTCA-JP 17 73566123 73566123 single base substitution A G missense_variant E554G 1661A>G BTCA-JP 17 73566123 73566123 single base substitution A G upstream_gene_variant BTCA-JP 17 73567899 73567899 single base substitution G A downstream_gene_variant BTCA-JP 17 73567899 73567899 single base substitution G A intron_variant BTCA-JP 17 73567899 73567899 single base substitution G A upstream_gene_variant BTCA-JP 17 73569239 73569239 single base substitution A T 3_prime_UTR_variant BTCA-JP 17 73569239 73569239 single base substitution A T downstream_gene_variant BTCA-JP 17 73569239 73569239 single base substitution A T exon_variant BTCA-JP 17 73569239 73569239 single base substitution A T missense_variant N869Y 2605A>T BTCA-JP 17 73569239 73569239 single base substitution A T upstream_gene_variant CESC-US 17 73517555 73517555 single base substitution G C upstream_gene_variant CESC-US 17 73518281 73518281 single base substitution G T upstream_gene_variant CESC-US 17 73552126 73552126 single base substitution G A splice_acceptor_variant CESC-US 17 73552126 73552126 single base substitution G A upstream_gene_variant CESC-US 17 73559178 73559178 single base substitution C T downstream_gene_variant CESC-US 17 73559178 73559178 single base substitution C T exon_variant CESC-US 17 73559178 73559178 single base substitution C T synonymous_variant I204I 612C>T CESC-US 17 73559178 73559178 single base substitution C T upstream_gene_variant CESC-US 17 73559502 73559502 single base substitution G A downstream_gene_variant CESC-US 17 73559502 73559502 single base substitution G A exon_variant CESC-US 17 73559502 73559502 single base substitution G A missense_variant E262K 784G>A CESC-US 17 73559502 73559502 single base substitution G A upstream_gene_variant CESC-US 17 73560506 73560506 single base substitution C G downstream_gene_variant CESC-US 17 73560506 73560506 single base substitution C G exon_variant CESC-US 17 73560506 73560506 single base substitution C G missense_variant I318M 954C>G CESC-US 17 73560506 73560506 single base substitution C G upstream_gene_variant CESC-US 17 73566530 73566530 single base substitution G A 3_prime_UTR_variant CESC-US 17 73566530 73566530 single base substitution G A downstream_gene_variant CESC-US 17 73566530 73566530 single base substitution G A exon_variant CESC-US 17 73566530 73566530 single base substitution G A missense_variant R659Q 1976G>A CESC-US 17 73566530 73566530 single base substitution G A upstream_gene_variant CLLE-ES 17 73546098 73546098 single base substitution T A intron_variant CLLE-ES 17 73555064 73555064 single base substitution C T downstream_gene_variant CLLE-ES 17 73555064 73555064 single base substitution C T exon_variant CLLE-ES 17 73555064 73555064 single base substitution C T intron_variant CLLE-ES 17 73555064 73555064 single base substitution C T upstream_gene_variant COAD-US 17 73517869 73517869 single base substitution A G upstream_gene_variant COAD-US 17 73518239 73518239 single base substitution C T upstream_gene_variant COAD-US 17 73518289 73518289 single base substitution C T upstream_gene_variant COAD-US 17 73518328 73518328 single base substitution A C upstream_gene_variant COAD-US 17 73520380 73520380 single base substitution C T upstream_gene_variant COAD-US 17 73552177 73552177 single base substitution G A downstream_gene_variant COAD-US 17 73552177 73552177 single base substitution G A synonymous_variant P42P 126G>A COAD-US 17 73552177 73552177 single base substitution G A synonymous_variant P43P 129G>A COAD-US 17 73552177 73552177 single base substitution G A upstream_gene_variant COAD-US 17 73552185 73552185 single base substitution G A downstream_gene_variant COAD-US 17 73552185 73552185 single base substitution G A missense_variant R45H 134G>A COAD-US 17 73552185 73552185 single base substitution G A missense_variant R46H 137G>A COAD-US 17 73552185 73552185 single base substitution G A upstream_gene_variant COAD-US 17 73559411 73559411 single base substitution G A downstream_gene_variant COAD-US 17 73559411 73559411 single base substitution G A exon_variant COAD-US 17 73559411 73559411 single base substitution G A splice_acceptor_variant COAD-US 17 73559411 73559411 single base substitution G A upstream_gene_variant COAD-US 17 73559441 73559441 single base substitution C T downstream_gene_variant COAD-US 17 73559441 73559441 single base substitution C T exon_variant COAD-US 17 73559441 73559441 single base substitution C T synonymous_variant D241D 723C>T COAD-US 17 73559441 73559441 single base substitution C T upstream_gene_variant COAD-US 17 73559535 73559535 single base substitution G A downstream_gene_variant COAD-US 17 73559535 73559535 single base substitution G A exon_variant COAD-US 17 73559535 73559535 single base substitution G A missense_variant V273M 817G>A COAD-US 17 73559535 73559535 single base substitution G A upstream_gene_variant COAD-US 17 73565095 73565095 single base substitution G A 3_prime_UTR_variant COAD-US 17 73565095 73565095 single base substitution G A downstream_gene_variant COAD-US 17 73565095 73565095 single base substitution G A exon_variant COAD-US 17 73565095 73565095 single base substitution G A synonymous_variant S453S 1359G>A COAD-US 17 73565095 73565095 single base substitution G A upstream_gene_variant COAD-US 17 73566278 73566278 single base substitution G A 3_prime_UTR_variant COAD-US 17 73566278 73566278 single base substitution G A exon_variant COAD-US 17 73566278 73566278 single base substitution G A missense_variant G606S 1816G>A COAD-US 17 73566278 73566278 single base substitution G A upstream_gene_variant COAD-US 17 73566317 73566317 single base substitution C T 3_prime_UTR_variant COAD-US 17 73566317 73566317 single base substitution C T exon_variant COAD-US 17 73566317 73566317 single base substitution C T missense_variant R619W 1855C>T COAD-US 17 73566317 73566317 single base substitution C T upstream_gene_variant COAD-US 17 73567846 73567846 single base substitution C T 3_prime_UTR_variant COAD-US 17 73567846 73567846 single base substitution C T downstream_gene_variant COAD-US 17 73567846 73567846 single base substitution C T exon_variant COAD-US 17 73567846 73567846 single base substitution C T missense_variant P759S 2275C>T COAD-US 17 73567846 73567846 single base substitution C T upstream_gene_variant COAD-US 17 73568055 73568055 single base substitution C T 3_prime_UTR_variant COAD-US 17 73568055 73568055 single base substitution C T downstream_gene_variant COAD-US 17 73568055 73568055 single base substitution C T exon_variant COAD-US 17 73568055 73568055 single base substitution C T synonymous_variant P790P 2370C>T COAD-US 17 73568055 73568055 single base substitution C T upstream_gene_variant COAD-US 17 73569139 73569139 single base substitution G T 3_prime_UTR_variant COAD-US 17 73569139 73569139 single base substitution G T downstream_gene_variant COAD-US 17 73569139 73569139 single base substitution G T exon_variant COAD-US 17 73569139 73569139 single base substitution G T synonymous_variant L835L 2505G>T COAD-US 17 73569139 73569139 single base substitution G T upstream_gene_variant COAD-US 17 73569164 73569164 single base substitution C T 3_prime_UTR_variant COAD-US 17 73569164 73569164 single base substitution C T downstream_gene_variant COAD-US 17 73569164 73569164 single base substitution C T exon_variant COAD-US 17 73569164 73569164 single base substitution C T missense_variant R844W 2530C>T COAD-US 17 73569164 73569164 single base substitution C T upstream_gene_variant COCA-CN 17 73519388 73519388 single base substitution A G upstream_gene_variant COCA-CN 17 73552021 73552021 single base substitution C T intron_variant COCA-CN 17 73552021 73552021 single base substitution C T upstream_gene_variant COCA-CN 17 73552062 73552062 single base substitution G C intron_variant COCA-CN 17 73552062 73552062 single base substitution G C upstream_gene_variant COCA-CN 17 73555645 73555645 single base substitution C A downstream_gene_variant COCA-CN 17 73555645 73555645 single base substitution C A intron_variant COCA-CN 17 73555645 73555645 single base substitution C A upstream_gene_variant COCA-CN 17 73559185 73559185 single base substitution G A downstream_gene_variant COCA-CN 17 73559185 73559185 single base substitution G A exon_variant COCA-CN 17 73559185 73559185 single base substitution G A missense_variant G207S 619G>A COCA-CN 17 73559185 73559185 single base substitution G A upstream_gene_variant COCA-CN 17 73565255 73565255 single base substitution T C downstream_gene_variant COCA-CN 17 73565255 73565255 single base substitution T C intron_variant COCA-CN 17 73565255 73565255 single base substitution T C upstream_gene_variant COCA-CN 17 73565262 73565262 single base substitution T A downstream_gene_variant COCA-CN 17 73565262 73565262 single base substitution T A intron_variant COCA-CN 17 73565262 73565262 single base substitution T A upstream_gene_variant COCA-CN 17 73566321 73566321 single base substitution G A 3_prime_UTR_variant COCA-CN 17 73566321 73566321 single base substitution G A exon_variant COCA-CN 17 73566321 73566321 single base substitution G A missense_variant R620Q 1859G>A COCA-CN 17 73566321 73566321 single base substitution G A upstream_gene_variant COCA-CN 17 73566481 73566481 single base substitution G A 3_prime_UTR_variant COCA-CN 17 73566481 73566481 single base substitution G A exon_variant COCA-CN 17 73566481 73566481 single base substitution G A missense_variant V643I 1927G>A COCA-CN 17 73566481 73566481 single base substitution G A upstream_gene_variant COCA-CN 17 73568100 73568100 single base substitution G T 3_prime_UTR_variant COCA-CN 17 73568100 73568100 single base substitution G T downstream_gene_variant COCA-CN 17 73568100 73568100 single base substitution G T exon_variant COCA-CN 17 73568100 73568100 single base substitution G T missense_variant M805I 2415G>T COCA-CN 17 73568100 73568100 single base substitution G T upstream_gene_variant ESAD-UK 17 73518149 73518149 single base substitution G A upstream_gene_variant ESAD-UK 17 73518559 73518559 single base substitution C A upstream_gene_variant ESAD-UK 17 73521690 73521690 single base substitution C G intron_variant ESAD-UK 17 73521690 73521690 single base substitution C G upstream_gene_variant ESAD-UK 17 73525535 73525535 single base substitution C G intron_variant ESAD-UK 17 73525535 73525535 single base substitution C G upstream_gene_variant ESAD-UK 17 73525587 73525587 single base substitution C T intron_variant ESAD-UK 17 73525587 73525587 single base substitution C T upstream_gene_variant ESAD-UK 17 73526986 73526986 single base substitution A T intron_variant ESAD-UK 17 73526986 73526986 single base substitution A T upstream_gene_variant ESAD-UK 17 73528075 73528075 single base substitution G A intron_variant ESAD-UK 17 73528075 73528075 single base substitution G A upstream_gene_variant ESAD-UK 17 73537896 73537896 single base substitution C T intron_variant ESAD-UK 17 73537896 73537896 single base substitution C T upstream_gene_variant ESAD-UK 17 73539773 73539773 single base substitution C G intron_variant ESAD-UK 17 73539773 73539773 single base substitution C G upstream_gene_variant ESAD-UK 17 73543254 73543254 single base substitution C T intron_variant ESAD-UK 17 73549587 73549589 deletion of <=200bp CTC - intron_variant ESAD-UK 17 73549587 73549589 deletion of <=200bp CTC - upstream_gene_variant ESAD-UK 17 73552080 73552080 single base substitution C T intron_variant ESAD-UK 17 73552080 73552080 single base substitution C T upstream_gene_variant ESAD-UK 17 73552740 73552740 single base substitution G T downstream_gene_variant ESAD-UK 17 73552740 73552740 single base substitution G T intron_variant ESAD-UK 17 73552740 73552740 single base substitution G T upstream_gene_variant ESAD-UK 17 73553347 73553347 single base substitution C T downstream_gene_variant ESAD-UK 17 73553347 73553347 single base substitution C T intron_variant ESAD-UK 17 73553347 73553347 single base substitution C T upstream_gene_variant ESAD-UK 17 73556607 73556607 single base substitution C A downstream_gene_variant ESAD-UK 17 73556607 73556607 single base substitution C A intron_variant ESAD-UK 17 73556607 73556607 single base substitution C A upstream_gene_variant ESAD-UK 17 73556927 73556927 deletion of <=200bp T - downstream_gene_variant ESAD-UK 17 73556927 73556927 deletion of <=200bp T - intron_variant ESAD-UK 17 73556927 73556927 deletion of <=200bp T - upstream_gene_variant ESAD-UK 17 73557288 73557288 single base substitution A G downstream_gene_variant ESAD-UK 17 73557288 73557288 single base substitution A G intron_variant ESAD-UK 17 73557288 73557288 single base substitution A G upstream_gene_variant ESAD-UK 17 73563826 73563826 single base substitution C T downstream_gene_variant ESAD-UK 17 73563826 73563826 single base substitution C T intron_variant ESAD-UK 17 73563826 73563826 single base substitution C T upstream_gene_variant ESAD-UK 17 73565663 73565663 single base substitution C T downstream_gene_variant ESAD-UK 17 73565663 73565663 single base substitution C T intron_variant ESAD-UK 17 73565663 73565663 single base substitution C T upstream_gene_variant ESAD-UK 17 73568032 73568032 single base substitution G A 3_prime_UTR_variant ESAD-UK 17 73568032 73568032 single base substitution G A downstream_gene_variant ESAD-UK 17 73568032 73568032 single base substitution G A exon_variant ESAD-UK 17 73568032 73568032 single base substitution G A missense_variant D783N 2347G>A ESAD-UK 17 73568032 73568032 single base substitution G A upstream_gene_variant ESAD-UK 17 73570374 73570374 single base substitution G C downstream_gene_variant ESAD-UK 17 73570374 73570374 single base substitution G C exon_variant ESAD-UK 17 73570374 73570374 single base substitution G C intron_variant ESAD-UK 17 73572070 73572070 single base substitution G A downstream_gene_variant ESAD-UK 17 73574039 73574039 single base substitution C T downstream_gene_variant ESAD-UK 17 73575259 73575259 single base substitution G A downstream_gene_variant ESCA-CN 17 73518242 73518242 single base substitution G A upstream_gene_variant ESCA-CN 17 73518306 73518306 single base substitution A C upstream_gene_variant ESCA-CN 17 73554680 73554680 single base substitution G A downstream_gene_variant ESCA-CN 17 73554680 73554680 single base substitution G A exon_variant ESCA-CN 17 73554680 73554680 single base substitution G A missense_variant E115K 343G>A ESCA-CN 17 73554680 73554680 single base substitution G A missense_variant E116K 346G>A ESCA-CN 17 73554680 73554680 single base substitution G A upstream_gene_variant ESCA-CN 17 73560447 73560447 single base substitution A G downstream_gene_variant ESCA-CN 17 73560447 73560447 single base substitution A G exon_variant ESCA-CN 17 73560447 73560447 single base substitution A G missense_variant I299V 895A>G ESCA-CN 17 73560447 73560447 single base substitution A G upstream_gene_variant ESCA-CN 17 73560575 73560575 single base substitution A G downstream_gene_variant ESCA-CN 17 73560575 73560575 single base substitution A G exon_variant ESCA-CN 17 73560575 73560575 single base substitution A G synonymous_variant A341A 1023A>G ESCA-CN 17 73560575 73560575 single base substitution A G upstream_gene_variant ESCA-CN 17 73570352 73570352 single base substitution T G downstream_gene_variant ESCA-CN 17 73570352 73570352 single base substitution T G exon_variant ESCA-CN 17 73570352 73570352 single base substitution T G intron_variant GBM-US 17 73555474 73555474 single base substitution G C downstream_gene_variant GBM-US 17 73555474 73555474 single base substitution G C exon_variant GBM-US 17 73555474 73555474 single base substitution G C synonymous_variant S171S 513G>C GBM-US 17 73555474 73555474 single base substitution G C upstream_gene_variant KIRC-US 17 73518055 73518055 single base substitution T G upstream_gene_variant KIRC-US 17 73519837 73519837 single base substitution C G upstream_gene_variant KIRC-US 17 73565078 73565078 single base substitution C T 3_prime_UTR_variant KIRC-US 17 73565078 73565078 single base substitution C T downstream_gene_variant KIRC-US 17 73565078 73565078 single base substitution C T exon_variant KIRC-US 17 73565078 73565078 single base substitution C T missense_variant R448W 1342C>T KIRC-US 17 73565078 73565078 single base substitution C T upstream_gene_variant KIRC-US 17 73569631 73569631 single base substitution G T 3_prime_UTR_variant KIRC-US 17 73569631 73569631 single base substitution G T downstream_gene_variant KIRC-US 17 73569631 73569631 single base substitution G T exon_variant KIRC-US 17 73569631 73569631 single base substitution G T missense_variant R932L 2795G>T KIRC-US 17 73569631 73569631 single base substitution G T upstream_gene_variant KIRP-US 17 73565071 73565071 single base substitution C A 3_prime_UTR_variant KIRP-US 17 73565071 73565071 single base substitution C A downstream_gene_variant KIRP-US 17 73565071 73565071 single base substitution C A exon_variant KIRP-US 17 73565071 73565071 single base substitution C A synonymous_variant G445G 1335C>A KIRP-US 17 73565071 73565071 single base substitution C A upstream_gene_variant LAML-KR 17 73529360 73529360 single base substitution G A intron_variant LAML-KR 17 73552062 73552062 single base substitution G C intron_variant LAML-KR 17 73552062 73552062 single base substitution G C upstream_gene_variant LAML-KR 17 73552185 73552185 single base substitution G A downstream_gene_variant LAML-KR 17 73552185 73552185 single base substitution G A missense_variant R45H 134G>A LAML-KR 17 73552185 73552185 single base substitution G A missense_variant R46H 137G>A LAML-KR 17 73552185 73552185 single base substitution G A upstream_gene_variant LAML-KR 17 73555000 73555000 single base substitution G A downstream_gene_variant LAML-KR 17 73555000 73555000 single base substitution G A intron_variant LAML-KR 17 73555000 73555000 single base substitution G A upstream_gene_variant LAML-KR 17 73555005 73555005 single base substitution C A downstream_gene_variant LAML-KR 17 73555005 73555005 single base substitution C A intron_variant LAML-KR 17 73555005 73555005 single base substitution C A upstream_gene_variant LAML-KR 17 73555044 73555044 single base substitution C T downstream_gene_variant LAML-KR 17 73555044 73555044 single base substitution C T intron_variant LAML-KR 17 73555044 73555044 single base substitution C T upstream_gene_variant LAML-KR 17 73555059 73555059 single base substitution C G downstream_gene_variant LAML-KR 17 73555059 73555059 single base substitution C G exon_variant LAML-KR 17 73555059 73555059 single base substitution C G intron_variant LAML-KR 17 73555059 73555059 single base substitution C G upstream_gene_variant LAML-KR 17 73559563 73559563 single base substitution G A downstream_gene_variant LAML-KR 17 73559563 73559563 single base substitution G A exon_variant LAML-KR 17 73559563 73559563 single base substitution G A intron_variant LAML-KR 17 73559563 73559563 single base substitution G A upstream_gene_variant LAML-KR 17 73566910 73566910 single base substitution C A downstream_gene_variant LAML-KR 17 73566910 73566910 single base substitution C A intron_variant LAML-KR 17 73566910 73566910 single base substitution C A upstream_gene_variant LAML-KR 17 73567846 73567846 single base substitution C T 3_prime_UTR_variant LAML-KR 17 73567846 73567846 single base substitution C T downstream_gene_variant LAML-KR 17 73567846 73567846 single base substitution C T exon_variant LAML-KR 17 73567846 73567846 single base substitution C T missense_variant P759S 2275C>T LAML-KR 17 73567846 73567846 single base substitution C T upstream_gene_variant LAML-KR 17 73569063 73569063 single base substitution C T downstream_gene_variant LAML-KR 17 73569063 73569063 single base substitution C T intron_variant LAML-KR 17 73569063 73569063 single base substitution C T upstream_gene_variant LGG-US 17 73567818 73567818 single base substitution G A 3_prime_UTR_variant LGG-US 17 73567818 73567818 single base substitution G A downstream_gene_variant LGG-US 17 73567818 73567818 single base substitution G A exon_variant LGG-US 17 73567818 73567818 single base substitution G A synonymous_variant V749V 2247G>A LGG-US 17 73567818 73567818 single base substitution G A upstream_gene_variant LGG-US 17 73570548 73570548 single base substitution A G 3_prime_UTR_variant LGG-US 17 73570548 73570548 single base substitution A G downstream_gene_variant LGG-US 17 73570548 73570548 single base substitution A G exon_variant LGG-US 17 73570548 73570548 single base substitution A G intron_variant LGG-US 17 73570548 73570548 single base substitution A G missense_variant I990V 2968A>G LICA-FR 17 73533529 73533543 deletion of <=200bp CTTTGTGGGGCCGAG - intron_variant LICA-FR 17 73535690 73535690 deletion of <=200bp T - intron_variant LICA-FR 17 73535690 73535690 deletion of <=200bp T - upstream_gene_variant LICA-FR 17 73552125 73552134 deletion of <=200bp AGACGGTGGA - frameshift_variant ETVE27 LICA-FR 17 73552125 73552134 deletion of <=200bp AGACGGTGGA - frameshift_variant KTVE26 LICA-FR 17 73552125 73552134 deletion of <=200bp AGACGGTGGA - upstream_gene_variant LICA-FR 17 73557062 73557062 single base substitution G T downstream_gene_variant LICA-FR 17 73557062 73557062 single base substitution G T intron_variant LICA-FR 17 73557062 73557062 single base substitution G T upstream_gene_variant LICA-FR 17 73557989 73557989 single base substitution C T downstream_gene_variant LICA-FR 17 73557989 73557989 single base substitution C T intron_variant LICA-FR 17 73557989 73557989 single base substitution C T upstream_gene_variant LICA-FR 17 73561304 73561306 deletion of <=200bp GCC - downstream_gene_variant LICA-FR 17 73561304 73561306 deletion of <=200bp GCC - intron_variant LICA-FR 17 73561304 73561306 deletion of <=200bp GCC - upstream_gene_variant LICA-FR 17 73567064 73567064 single base substitution G A 3_prime_UTR_variant LICA-FR 17 73567064 73567064 single base substitution G A downstream_gene_variant LICA-FR 17 73567064 73567064 single base substitution G A exon_variant LICA-FR 17 73567064 73567064 single base substitution G A missense_variant G687S 2059G>A LICA-FR 17 73567064 73567064 single base substitution G A upstream_gene_variant LICA-FR 17 73568328 73568328 single base substitution G T downstream_gene_variant LICA-FR 17 73568328 73568328 single base substitution G T intron_variant LICA-FR 17 73568328 73568328 single base substitution G T upstream_gene_variant LICA-FR 17 73569169 73569169 single base substitution G A 3_prime_UTR_variant LICA-FR 17 73569169 73569169 single base substitution G A downstream_gene_variant LICA-FR 17 73569169 73569169 single base substitution G A exon_variant LICA-FR 17 73569169 73569169 single base substitution G A synonymous_variant R845R 2535G>A LICA-FR 17 73569169 73569169 single base substitution G A upstream_gene_variant LICA-FR 17 73569184 73569184 single base substitution C T 3_prime_UTR_variant LICA-FR 17 73569184 73569184 single base substitution C T downstream_gene_variant LICA-FR 17 73569184 73569184 single base substitution C T exon_variant LICA-FR 17 73569184 73569184 single base substitution C T synonymous_variant H850H 2550C>T LICA-FR 17 73569184 73569184 single base substitution C T upstream_gene_variant LIHC-US 17 73569581 73569581 single base substitution C G 3_prime_UTR_variant LIHC-US 17 73569581 73569581 single base substitution C G downstream_gene_variant LIHC-US 17 73569581 73569581 single base substitution C G exon_variant LIHC-US 17 73569581 73569581 single base substitution C G synonymous_variant P915P 2745C>G LIHC-US 17 73569581 73569581 single base substitution C G upstream_gene_variant LINC-JP 17 73519696 73519696 single base substitution G T upstream_gene_variant LINC-JP 17 73521273 73521273 deletion of <=200bp C - intron_variant LINC-JP 17 73521273 73521273 deletion of <=200bp C - upstream_gene_variant LINC-JP 17 73536742 73536742 single base substitution A G intron_variant LINC-JP 17 73536742 73536742 single base substitution A G upstream_gene_variant LINC-JP 17 73544363 73544363 single base substitution T C intron_variant LINC-JP 17 73546167 73546167 single base substitution C T intron_variant LINC-JP 17 73546886 73546886 single base substitution C A intron_variant LINC-JP 17 73549931 73549931 single base substitution A G intron_variant LINC-JP 17 73549931 73549931 single base substitution A G upstream_gene_variant LINC-JP 17 73555079 73555079 single base substitution T C downstream_gene_variant LINC-JP 17 73555079 73555079 single base substitution T C exon_variant LINC-JP 17 73555079 73555079 single base substitution T C intron_variant LINC-JP 17 73555079 73555079 single base substitution T C upstream_gene_variant LINC-JP 17 73556383 73556383 single base substitution C G downstream_gene_variant LINC-JP 17 73556383 73556383 single base substitution C G intron_variant LINC-JP 17 73556383 73556383 single base substitution C G upstream_gene_variant LINC-JP 17 73558187 73558187 single base substitution G A downstream_gene_variant LINC-JP 17 73558187 73558187 single base substitution G A intron_variant LINC-JP 17 73558187 73558187 single base substitution G A upstream_gene_variant LINC-JP 17 73559786 73559786 single base substitution T A downstream_gene_variant LINC-JP 17 73559786 73559786 single base substitution T A exon_variant LINC-JP 17 73559786 73559786 single base substitution T A intron_variant LINC-JP 17 73559786 73559786 single base substitution T A upstream_gene_variant LINC-JP 17 73559787 73559787 single base substitution G T downstream_gene_variant LINC-JP 17 73559787 73559787 single base substitution G T exon_variant LINC-JP 17 73559787 73559787 single base substitution G T intron_variant LINC-JP 17 73559787 73559787 single base substitution G T upstream_gene_variant LINC-JP 17 73560612 73560612 single base substitution G A downstream_gene_variant LINC-JP 17 73560612 73560612 single base substitution G A exon_variant LINC-JP 17 73560612 73560612 single base substitution G A intron_variant LINC-JP 17 73560612 73560612 single base substitution G A missense_variant A354T 1060G>A LINC-JP 17 73560612 73560612 single base substitution G A upstream_gene_variant LINC-JP 17 73561442 73561442 single base substitution C A downstream_gene_variant LINC-JP 17 73561442 73561442 single base substitution C A intron_variant LINC-JP 17 73561442 73561442 single base substitution C A upstream_gene_variant LINC-JP 17 73569724 73569724 single base substitution G A downstream_gene_variant LINC-JP 17 73569724 73569724 single base substitution G A intron_variant LINC-JP 17 73569724 73569724 single base substitution G A upstream_gene_variant LIRI-JP 17 73518907 73518907 single base substitution A G upstream_gene_variant LIRI-JP 17 73520117 73520117 single base substitution G T upstream_gene_variant LIRI-JP 17 73524328 73524328 single base substitution C G intron_variant LIRI-JP 17 73524328 73524328 single base substitution C G upstream_gene_variant LIRI-JP 17 73524969 73524969 single base substitution G A intron_variant LIRI-JP 17 73524969 73524969 single base substitution G A upstream_gene_variant LIRI-JP 17 73527972 73527972 single base substitution C T intron_variant LIRI-JP 17 73527972 73527972 single base substitution C T upstream_gene_variant LIRI-JP 17 73528069 73528069 single base substitution G T intron_variant LIRI-JP 17 73528069 73528069 single base substitution G T upstream_gene_variant LIRI-JP 17 73531422 73531422 single base substitution A G intron_variant LIRI-JP 17 73533610 73533610 single base substitution T A intron_variant LIRI-JP 17 73536785 73536785 single base substitution C G intron_variant LIRI-JP 17 73536785 73536785 single base substitution C G upstream_gene_variant LIRI-JP 17 73547935 73547935 single base substitution T C intron_variant LIRI-JP 17 73549776 73549776 single base substitution A G intron_variant LIRI-JP 17 73549776 73549776 single base substitution A G upstream_gene_variant LIRI-JP 17 73553202 73553202 single base substitution C T downstream_gene_variant LIRI-JP 17 73553202 73553202 single base substitution C T intron_variant LIRI-JP 17 73553202 73553202 single base substitution C T upstream_gene_variant LIRI-JP 17 73553295 73553295 single base substitution A G downstream_gene_variant LIRI-JP 17 73553295 73553295 single base substitution A G intron_variant LIRI-JP 17 73553295 73553295 single base substitution A G upstream_gene_variant LIRI-JP 17 73554146 73554146 single base substitution A G downstream_gene_variant LIRI-JP 17 73554146 73554146 single base substitution A G exon_variant LIRI-JP 17 73554146 73554146 single base substitution A G intron_variant LIRI-JP 17 73554146 73554146 single base substitution A G upstream_gene_variant LIRI-JP 17 73558993 73558993 single base substitution A G downstream_gene_variant LIRI-JP 17 73558993 73558993 single base substitution A G exon_variant LIRI-JP 17 73558993 73558993 single base substitution A G intron_variant LIRI-JP 17 73558993 73558993 single base substitution A G upstream_gene_variant LIRI-JP 17 73563761 73563761 single base substitution G T downstream_gene_variant LIRI-JP 17 73563761 73563761 single base substitution G T intron_variant LIRI-JP 17 73563761 73563761 single base substitution G T upstream_gene_variant LIRI-JP 17 73570196 73570196 single base substitution G T downstream_gene_variant LIRI-JP 17 73570196 73570196 single base substitution G T exon_variant LIRI-JP 17 73570196 73570196 single base substitution G T intron_variant LIRI-JP 17 73570196 73570196 single base substitution G T upstream_gene_variant LIRI-JP 17 73570844 73570844 single base substitution A G downstream_gene_variant LIRI-JP 17 73570844 73570844 single base substitution A G intron_variant LIRI-JP 17 73571764 73571764 single base substitution C T downstream_gene_variant LIRI-JP 17 73572728 73572728 single base substitution C T downstream_gene_variant LIRI-JP 17 73576141 73576141 single base substitution C A downstream_gene_variant LUSC-KR 17 73517744 73517744 single base substitution C A upstream_gene_variant LUSC-KR 17 73519931 73519931 single base substitution C G upstream_gene_variant LUSC-KR 17 73520307 73520307 single base substitution A G upstream_gene_variant LUSC-KR 17 73522002 73522002 single base substitution C T intron_variant LUSC-KR 17 73523462 73523462 single base substitution C T intron_variant LUSC-KR 17 73529429 73529429 single base substitution T A intron_variant LUSC-KR 17 73529447 73529447 single base substitution A G intron_variant LUSC-KR 17 73529479 73529479 single base substitution A G intron_variant LUSC-KR 17 73529487 73529487 single base substitution A G intron_variant LUSC-KR 17 73534785 73534785 single base substitution C T intron_variant LUSC-KR 17 73534785 73534785 single base substitution C T upstream_gene_variant LUSC-KR 17 73540999 73540999 single base substitution G T intron_variant LUSC-KR 17 73540999 73540999 single base substitution G T upstream_gene_variant LUSC-KR 17 73542783 73542783 single base substitution G A intron_variant LUSC-KR 17 73542863 73542863 single base substitution A G intron_variant LUSC-KR 17 73544499 73544499 single base substitution C A intron_variant LUSC-KR 17 73544520 73544520 single base substitution G A intron_variant LUSC-KR 17 73545753 73545753 single base substitution G A intron_variant LUSC-KR 17 73545821 73545821 single base substitution G T intron_variant LUSC-KR 17 73546144 73546144 single base substitution C G intron_variant LUSC-KR 17 73552541 73552541 single base substitution T G downstream_gene_variant LUSC-KR 17 73552541 73552541 single base substitution T G intron_variant LUSC-KR 17 73552541 73552541 single base substitution T G upstream_gene_variant LUSC-KR 17 73557553 73557553 single base substitution T A downstream_gene_variant LUSC-KR 17 73557553 73557553 single base substitution T A intron_variant LUSC-KR 17 73557553 73557553 single base substitution T A upstream_gene_variant LUSC-KR 17 73561696 73561696 single base substitution C T downstream_gene_variant LUSC-KR 17 73561696 73561696 single base substitution C T intron_variant LUSC-KR 17 73561696 73561696 single base substitution C T upstream_gene_variant LUSC-KR 17 73566296 73566296 single base substitution G C 3_prime_UTR_variant LUSC-KR 17 73566296 73566296 single base substitution G C exon_variant LUSC-KR 17 73566296 73566296 single base substitution G C missense_variant G612R 1834G>C LUSC-KR 17 73566296 73566296 single base substitution G C upstream_gene_variant LUSC-KR 17 73571986 73571986 single base substitution G A downstream_gene_variant LUSC-US 17 73517538 73517538 single base substitution G T upstream_gene_variant LUSC-US 17 73517590 73517590 single base substitution C A upstream_gene_variant LUSC-US 17 73560510 73560510 single base substitution G A downstream_gene_variant LUSC-US 17 73560510 73560510 single base substitution G A exon_variant LUSC-US 17 73560510 73560510 single base substitution G A missense_variant D320N 958G>A LUSC-US 17 73560510 73560510 single base substitution G A upstream_gene_variant LUSC-US 17 73566264 73566264 single base substitution G A 3_prime_UTR_variant LUSC-US 17 73566264 73566264 single base substitution G A exon_variant LUSC-US 17 73566264 73566264 single base substitution G A missense_variant R601Q 1802G>A LUSC-US 17 73566264 73566264 single base substitution G A upstream_gene_variant LUSC-US 17 73569291 73569291 single base substitution G A 3_prime_UTR_variant LUSC-US 17 73569291 73569291 single base substitution G A downstream_gene_variant LUSC-US 17 73569291 73569291 single base substitution G A exon_variant LUSC-US 17 73569291 73569291 single base substitution G A missense_variant R886H 2657G>A LUSC-US 17 73569291 73569291 single base substitution G A upstream_gene_variant MALY-DE 17 73558004 73558004 insertion of <=200bp - A downstream_gene_variant MALY-DE 17 73558004 73558004 insertion of <=200bp - A intron_variant MALY-DE 17 73558004 73558004 insertion of <=200bp - A upstream_gene_variant MALY-DE 17 73559818 73559818 insertion of <=200bp - T downstream_gene_variant MALY-DE 17 73559818 73559818 insertion of <=200bp - T exon_variant MALY-DE 17 73559818 73559818 insertion of <=200bp - T intron_variant MALY-DE 17 73559818 73559818 insertion of <=200bp - T upstream_gene_variant MALY-DE 17 73566362 73566362 single base substitution G C intron_variant MALY-DE 17 73566362 73566362 single base substitution G C upstream_gene_variant MALY-DE 17 73566814 73566814 single base substitution T C downstream_gene_variant MALY-DE 17 73566814 73566814 single base substitution T C intron_variant MALY-DE 17 73566814 73566814 single base substitution T C upstream_gene_variant MALY-DE 17 73574912 73574912 single base substitution A T downstream_gene_variant MELA-AU 17 73517113 73517113 single base substitution T C upstream_gene_variant MELA-AU 17 73517419 73517419 single base substitution C T upstream_gene_variant MELA-AU 17 73517438 73517438 single base substitution C T upstream_gene_variant MELA-AU 17 73517965 73517965 single base substitution C T upstream_gene_variant MELA-AU 17 73518249 73518249 single base substitution C T upstream_gene_variant MELA-AU 17 73518537 73518537 single base substitution G T upstream_gene_variant MELA-AU 17 73518909 73518909 single base substitution A G upstream_gene_variant MELA-AU 17 73519283 73519283 single base substitution C T upstream_gene_variant MELA-AU 17 73519563 73519563 single base substitution C T upstream_gene_variant MELA-AU 17 73519627 73519627 single base substitution C T upstream_gene_variant MELA-AU 17 73519656 73519656 single base substitution C T upstream_gene_variant MELA-AU 17 73520534 73520534 single base substitution C T upstream_gene_variant MELA-AU 17 73520664 73520664 single base substitution C T upstream_gene_variant MELA-AU 17 73520880 73520880 single base substitution C T upstream_gene_variant MELA-AU 17 73521799 73521799 single base substitution G A intron_variant MELA-AU 17 73521799 73521799 single base substitution G A upstream_gene_variant MELA-AU 17 73521985 73521985 single base substitution C T intron_variant MELA-AU 17 73523513 73523513 single base substitution G A intron_variant MELA-AU 17 73523564 73523564 single base substitution C T intron_variant MELA-AU 17 73523894 73523894 single base substitution G T intron_variant MELA-AU 17 73523894 73523894 single base substitution G T upstream_gene_variant MELA-AU 17 73524193 73524193 single base substitution T C intron_variant MELA-AU 17 73524193 73524193 single base substitution T C upstream_gene_variant MELA-AU 17 73524227 73524227 single base substitution C T intron_variant MELA-AU 17 73524227 73524227 single base substitution C T upstream_gene_variant MELA-AU 17 73524287 73524287 single base substitution C T intron_variant MELA-AU 17 73524287 73524287 single base substitution C T upstream_gene_variant MELA-AU 17 73524359 73524359 single base substitution G A intron_variant MELA-AU 17 73524359 73524359 single base substitution G A upstream_gene_variant MELA-AU 17 73525206 73525206 single base substitution C T intron_variant MELA-AU 17 73525206 73525206 single base substitution C T upstream_gene_variant MELA-AU 17 73525260 73525260 single base substitution C T intron_variant MELA-AU 17 73525260 73525260 single base substitution C T upstream_gene_variant MELA-AU 17 73525376 73525376 single base substitution C T intron_variant MELA-AU 17 73525376 73525376 single base substitution C T upstream_gene_variant MELA-AU 17 73525638 73525638 single base substitution A G intron_variant MELA-AU 17 73525638 73525638 single base substitution A G upstream_gene_variant MELA-AU 17 73526004 73526004 single base substitution G C intron_variant MELA-AU 17 73526004 73526004 single base substitution G C upstream_gene_variant MELA-AU 17 73526408 73526408 single base substitution C T intron_variant MELA-AU 17 73526408 73526408 single base substitution C T upstream_gene_variant MELA-AU 17 73526449 73526449 single base substitution C T intron_variant MELA-AU 17 73526449 73526449 single base substitution C T upstream_gene_variant MELA-AU 17 73527167 73527167 single base substitution T A intron_variant MELA-AU 17 73527167 73527167 single base substitution T A upstream_gene_variant MELA-AU 17 73527318 73527318 single base substitution G A intron_variant MELA-AU 17 73527318 73527318 single base substitution G A upstream_gene_variant MELA-AU 17 73527321 73527321 single base substitution G A intron_variant MELA-AU 17 73527321 73527321 single base substitution G A upstream_gene_variant MELA-AU 17 73527406 73527406 single base substitution C T intron_variant MELA-AU 17 73527406 73527406 single base substitution C T upstream_gene_variant MELA-AU 17 73527798 73527798 single base substitution G C intron_variant MELA-AU 17 73527798 73527798 single base substitution G C upstream_gene_variant MELA-AU 17 73528568 73528568 single base substitution G A intron_variant MELA-AU 17 73528568 73528568 single base substitution G A upstream_gene_variant MELA-AU 17 73528778 73528778 single base substitution T A intron_variant MELA-AU 17 73528808 73528808 single base substitution C T intron_variant MELA-AU 17 73528898 73528898 single base substitution G A intron_variant MELA-AU 17 73528982 73528982 single base substitution C T intron_variant MELA-AU 17 73529369 73529369 single base substitution C T intron_variant MELA-AU 17 73529416 73529416 single base substitution C T intron_variant MELA-AU 17 73529882 73529882 single base substitution G A intron_variant MELA-AU 17 73530236 73530236 single base substitution C T intron_variant MELA-AU 17 73530939 73530939 single base substitution T A intron_variant MELA-AU 17 73531481 73531481 single base substitution G A intron_variant MELA-AU 17 73531578 73531578 single base substitution G A intron_variant MELA-AU 17 73531642 73531643 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 17 73531927 73531927 single base substitution G A intron_variant MELA-AU 17 73531985 73531985 single base substitution G A intron_variant MELA-AU 17 73532468 73532468 single base substitution C T intron_variant MELA-AU 17 73532478 73532478 single base substitution G T intron_variant MELA-AU 17 73532483 73532483 single base substitution G T intron_variant MELA-AU 17 73532836 73532836 single base substitution G A intron_variant MELA-AU 17 73532874 73532874 single base substitution C T intron_variant MELA-AU 17 73533674 73533674 single base substitution G T intron_variant MELA-AU 17 73533777 73533777 single base substitution C T intron_variant MELA-AU 17 73533777 73533777 single base substitution C T upstream_gene_variant MELA-AU 17 73533849 73533849 single base substitution G A intron_variant MELA-AU 17 73533849 73533849 single base substitution G A upstream_gene_variant MELA-AU 17 73534311 73534311 single base substitution G A intron_variant MELA-AU 17 73534311 73534311 single base substitution G A upstream_gene_variant MELA-AU 17 73534469 73534469 single base substitution G A intron_variant MELA-AU 17 73534469 73534469 single base substitution G A upstream_gene_variant MELA-AU 17 73535142 73535142 single base substitution C T intron_variant MELA-AU 17 73535142 73535142 single base substitution C T upstream_gene_variant MELA-AU 17 73535931 73535931 single base substitution C T intron_variant MELA-AU 17 73535931 73535931 single base substitution C T upstream_gene_variant MELA-AU 17 73536153 73536153 single base substitution C T intron_variant MELA-AU 17 73536153 73536153 single base substitution C T upstream_gene_variant MELA-AU 17 73536410 73536410 single base substitution C T intron_variant MELA-AU 17 73536410 73536410 single base substitution C T upstream_gene_variant MELA-AU 17 73536516 73536516 single base substitution C T intron_variant MELA-AU 17 73536516 73536516 single base substitution C T upstream_gene_variant MELA-AU 17 73536723 73536723 single base substitution C T intron_variant MELA-AU 17 73536723 73536723 single base substitution C T upstream_gene_variant MELA-AU 17 73536744 73536744 single base substitution C T intron_variant MELA-AU 17 73536744 73536744 single base substitution C T upstream_gene_variant MELA-AU 17 73536953 73536953 single base substitution G A intron_variant MELA-AU 17 73536953 73536953 single base substitution G A upstream_gene_variant MELA-AU 17 73537208 73537208 single base substitution C T intron_variant MELA-AU 17 73537208 73537208 single base substitution C T upstream_gene_variant MELA-AU 17 73537299 73537300 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 73537299 73537300 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 73537309 73537309 single base substitution C T intron_variant MELA-AU 17 73537309 73537309 single base substitution C T upstream_gene_variant MELA-AU 17 73537385 73537385 single base substitution C T intron_variant MELA-AU 17 73537385 73537385 single base substitution C T upstream_gene_variant MELA-AU 17 73537505 73537505 single base substitution C T intron_variant MELA-AU 17 73537505 73537505 single base substitution C T upstream_gene_variant MELA-AU 17 73537557 73537558 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 73537557 73537558 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 73537731 73537731 single base substitution C T intron_variant MELA-AU 17 73537731 73537731 single base substitution C T upstream_gene_variant MELA-AU 17 73538111 73538111 single base substitution G A intron_variant MELA-AU 17 73538111 73538111 single base substitution G A upstream_gene_variant MELA-AU 17 73538231 73538231 single base substitution G A intron_variant MELA-AU 17 73538231 73538231 single base substitution G A upstream_gene_variant MELA-AU 17 73538263 73538263 single base substitution G A intron_variant MELA-AU 17 73538263 73538263 single base substitution G A upstream_gene_variant MELA-AU 17 73538291 73538291 single base substitution G A intron_variant MELA-AU 17 73538291 73538291 single base substitution G A upstream_gene_variant MELA-AU 17 73538456 73538456 single base substitution C T intron_variant MELA-AU 17 73538456 73538456 single base substitution C T upstream_gene_variant MELA-AU 17 73538486 73538487 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 73538486 73538487 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 73538833 73538834 multiple base substitution (>=2bp and <=200bp) CC AT 5_prime_UTR_variant MELA-AU 17 73538833 73538834 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 17 73538833 73538834 multiple base substitution (>=2bp and <=200bp) CC AT upstream_gene_variant MELA-AU 17 73538868 73538868 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 17 73538868 73538868 single base substitution C T intron_variant MELA-AU 17 73538868 73538868 single base substitution C T upstream_gene_variant MELA-AU 17 73539353 73539353 single base substitution G A 5_prime_UTR_variant MELA-AU 17 73539353 73539353 single base substitution G A intron_variant MELA-AU 17 73539353 73539353 single base substitution G A upstream_gene_variant MELA-AU 17 73539419 73539419 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 17 73539419 73539419 single base substitution G T intron_variant MELA-AU 17 73539419 73539419 single base substitution G T upstream_gene_variant MELA-AU 17 73539714 73539714 single base substitution G A intron_variant MELA-AU 17 73539714 73539714 single base substitution G A upstream_gene_variant MELA-AU 17 73539809 73539809 single base substitution G A intron_variant MELA-AU 17 73539809 73539809 single base substitution G A upstream_gene_variant MELA-AU 17 73539867 73539867 single base substitution C T intron_variant MELA-AU 17 73539867 73539867 single base substitution C T upstream_gene_variant MELA-AU 17 73539881 73539881 single base substitution G A intron_variant MELA-AU 17 73539881 73539881 single base substitution G A upstream_gene_variant MELA-AU 17 73539958 73539958 single base substitution G A intron_variant MELA-AU 17 73539958 73539958 single base substitution G A upstream_gene_variant MELA-AU 17 73540039 73540039 single base substitution G A intron_variant MELA-AU 17 73540039 73540039 single base substitution G A upstream_gene_variant MELA-AU 17 73540194 73540194 single base substitution C T intron_variant MELA-AU 17 73540194 73540194 single base substitution C T upstream_gene_variant MELA-AU 17 73540289 73540289 single base substitution G A intron_variant MELA-AU 17 73540289 73540289 single base substitution G A upstream_gene_variant MELA-AU 17 73540380 73540380 single base substitution C T intron_variant MELA-AU 17 73540380 73540380 single base substitution C T upstream_gene_variant MELA-AU 17 73540408 73540408 single base substitution C T intron_variant MELA-AU 17 73540408 73540408 single base substitution C T upstream_gene_variant MELA-AU 17 73540412 73540412 single base substitution G A intron_variant MELA-AU 17 73540412 73540412 single base substitution G A upstream_gene_variant MELA-AU 17 73540431 73540431 single base substitution C T intron_variant MELA-AU 17 73540431 73540431 single base substitution C T upstream_gene_variant MELA-AU 17 73540803 73540803 single base substitution C T intron_variant MELA-AU 17 73540803 73540803 single base substitution C T upstream_gene_variant MELA-AU 17 73540885 73540885 single base substitution C T intron_variant MELA-AU 17 73540885 73540885 single base substitution C T upstream_gene_variant MELA-AU 17 73541319 73541319 single base substitution C T intron_variant MELA-AU 17 73541319 73541319 single base substitution C T upstream_gene_variant MELA-AU 17 73541376 73541376 single base substitution C T intron_variant MELA-AU 17 73541376 73541376 single base substitution C T upstream_gene_variant MELA-AU 17 73542047 73542047 single base substitution C T intron_variant MELA-AU 17 73542047 73542047 single base substitution C T upstream_gene_variant MELA-AU 17 73542125 73542125 single base substitution C T intron_variant MELA-AU 17 73542125 73542125 single base substitution C T upstream_gene_variant MELA-AU 17 73542311 73542311 single base substitution G A 5_prime_UTR_variant MELA-AU 17 73542311 73542311 single base substitution G A intron_variant MELA-AU 17 73542316 73542316 single base substitution G A 5_prime_UTR_variant MELA-AU 17 73542316 73542316 single base substitution G A intron_variant MELA-AU 17 73542319 73542320 multiple base substitution (>=2bp and <=200bp) GA AT 5_prime_UTR_variant MELA-AU 17 73542319 73542320 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 17 73542351 73542351 single base substitution G A intron_variant MELA-AU 17 73542351 73542351 single base substitution G A missense_variant D9N 25G>A MELA-AU 17 73542432 73542432 single base substitution C T intron_variant MELA-AU 17 73542502 73542502 single base substitution T C intron_variant MELA-AU 17 73543104 73543104 single base substitution G A intron_variant MELA-AU 17 73544260 73544260 single base substitution C T intron_variant MELA-AU 17 73544286 73544286 single base substitution C T intron_variant MELA-AU 17 73545110 73545110 single base substitution C T intron_variant MELA-AU 17 73545131 73545131 single base substitution G A intron_variant MELA-AU 17 73545591 73545591 single base substitution C T intron_variant MELA-AU 17 73545815 73545815 single base substitution C T intron_variant MELA-AU 17 73545986 73545986 single base substitution C T intron_variant MELA-AU 17 73546349 73546349 single base substitution C T intron_variant MELA-AU 17 73546925 73546925 single base substitution G A intron_variant MELA-AU 17 73547006 73547006 single base substitution C T intron_variant MELA-AU 17 73547043 73547043 single base substitution C T intron_variant MELA-AU 17 73547108 73547108 single base substitution C T intron_variant MELA-AU 17 73547206 73547206 single base substitution C T intron_variant MELA-AU 17 73547469 73547469 single base substitution C T intron_variant MELA-AU 17 73547855 73547855 single base substitution T A intron_variant MELA-AU 17 73548278 73548278 single base substitution C T intron_variant MELA-AU 17 73548391 73548391 single base substitution G A intron_variant MELA-AU 17 73548496 73548496 single base substitution G A intron_variant MELA-AU 17 73548789 73548789 single base substitution C T intron_variant MELA-AU 17 73548858 73548858 single base substitution G A intron_variant MELA-AU 17 73549104 73549104 single base substitution C T intron_variant MELA-AU 17 73549104 73549104 single base substitution C T upstream_gene_variant MELA-AU 17 73549174 73549174 single base substitution C T intron_variant MELA-AU 17 73549174 73549174 single base substitution C T upstream_gene_variant MELA-AU 17 73549199 73549199 single base substitution C T intron_variant MELA-AU 17 73549199 73549199 single base substitution C T upstream_gene_variant MELA-AU 17 73549595 73549595 single base substitution C T intron_variant MELA-AU 17 73549595 73549595 single base substitution C T upstream_gene_variant MELA-AU 17 73549884 73549884 single base substitution T C intron_variant MELA-AU 17 73549884 73549884 single base substitution T C upstream_gene_variant MELA-AU 17 73550327 73550327 single base substitution G A intron_variant MELA-AU 17 73550327 73550327 single base substitution G A upstream_gene_variant MELA-AU 17 73550472 73550472 single base substitution C T intron_variant MELA-AU 17 73550472 73550472 single base substitution C T upstream_gene_variant MELA-AU 17 73550487 73550487 single base substitution G A intron_variant MELA-AU 17 73550487 73550487 single base substitution G A upstream_gene_variant MELA-AU 17 73550498 73550498 single base substitution G A intron_variant MELA-AU 17 73550498 73550498 single base substitution G A upstream_gene_variant MELA-AU 17 73550673 73550673 single base substitution C T intron_variant MELA-AU 17 73550673 73550673 single base substitution C T upstream_gene_variant MELA-AU 17 73550852 73550852 single base substitution C T intron_variant MELA-AU 17 73550852 73550852 single base substitution C T upstream_gene_variant MELA-AU 17 73551071 73551071 single base substitution G A intron_variant MELA-AU 17 73551071 73551071 single base substitution G A upstream_gene_variant MELA-AU 17 73551212 73551212 single base substitution C T intron_variant MELA-AU 17 73551212 73551212 single base substitution C T upstream_gene_variant MELA-AU 17 73551234 73551234 single base substitution G A intron_variant MELA-AU 17 73551234 73551234 single base substitution G A upstream_gene_variant MELA-AU 17 73551393 73551393 single base substitution C T intron_variant MELA-AU 17 73551393 73551393 single base substitution C T upstream_gene_variant MELA-AU 17 73551757 73551757 single base substitution C T intron_variant MELA-AU 17 73551757 73551757 single base substitution C T upstream_gene_variant MELA-AU 17 73551955 73551955 single base substitution G A intron_variant MELA-AU 17 73551955 73551955 single base substitution G A upstream_gene_variant MELA-AU 17 73552144 73552144 single base substitution C T synonymous_variant F31F 93C>T MELA-AU 17 73552144 73552144 single base substitution C T synonymous_variant F32F 96C>T MELA-AU 17 73552144 73552144 single base substitution C T upstream_gene_variant MELA-AU 17 73552314 73552314 single base substitution C T downstream_gene_variant MELA-AU 17 73552314 73552314 single base substitution C T intron_variant MELA-AU 17 73552314 73552314 single base substitution C T upstream_gene_variant MELA-AU 17 73552591 73552591 single base substitution C T downstream_gene_variant MELA-AU 17 73552591 73552591 single base substitution C T intron_variant MELA-AU 17 73552591 73552591 single base substitution C T upstream_gene_variant MELA-AU 17 73552665 73552665 single base substitution C T downstream_gene_variant MELA-AU 17 73552665 73552665 single base substitution C T intron_variant MELA-AU 17 73552665 73552665 single base substitution C T upstream_gene_variant MELA-AU 17 73552756 73552756 single base substitution T G downstream_gene_variant MELA-AU 17 73552756 73552756 single base substitution T G intron_variant MELA-AU 17 73552756 73552756 single base substitution T G upstream_gene_variant MELA-AU 17 73552856 73552856 single base substitution C T downstream_gene_variant MELA-AU 17 73552856 73552856 single base substitution C T intron_variant MELA-AU 17 73552856 73552856 single base substitution C T upstream_gene_variant MELA-AU 17 73552938 73552938 single base substitution C T downstream_gene_variant MELA-AU 17 73552938 73552938 single base substitution C T intron_variant MELA-AU 17 73552938 73552938 single base substitution C T upstream_gene_variant MELA-AU 17 73553463 73553463 single base substitution G A downstream_gene_variant MELA-AU 17 73553463 73553463 single base substitution G A intron_variant MELA-AU 17 73553463 73553463 single base substitution G A upstream_gene_variant MELA-AU 17 73553673 73553673 single base substitution C T downstream_gene_variant MELA-AU 17 73553673 73553673 single base substitution C T intron_variant MELA-AU 17 73553673 73553673 single base substitution C T upstream_gene_variant MELA-AU 17 73553777 73553777 single base substitution C T downstream_gene_variant MELA-AU 17 73553777 73553777 single base substitution C T intron_variant MELA-AU 17 73553777 73553777 single base substitution C T upstream_gene_variant MELA-AU 17 73553824 73553824 single base substitution C T downstream_gene_variant MELA-AU 17 73553824 73553824 single base substitution C T intron_variant MELA-AU 17 73553824 73553824 single base substitution C T upstream_gene_variant MELA-AU 17 73554015 73554015 single base substitution G A downstream_gene_variant MELA-AU 17 73554015 73554015 single base substitution G A exon_variant MELA-AU 17 73554015 73554015 single base substitution G A intron_variant MELA-AU 17 73554015 73554015 single base substitution G A upstream_gene_variant MELA-AU 17 73554016 73554016 single base substitution G A downstream_gene_variant MELA-AU 17 73554016 73554016 single base substitution G A exon_variant MELA-AU 17 73554016 73554016 single base substitution G A intron_variant MELA-AU 17 73554016 73554016 single base substitution G A upstream_gene_variant MELA-AU 17 73554082 73554082 single base substitution C T downstream_gene_variant MELA-AU 17 73554082 73554082 single base substitution C T exon_variant MELA-AU 17 73554082 73554082 single base substitution C T intron_variant MELA-AU 17 73554082 73554082 single base substitution C T upstream_gene_variant MELA-AU 17 73554226 73554226 single base substitution C T downstream_gene_variant MELA-AU 17 73554226 73554226 single base substitution C T exon_variant MELA-AU 17 73554226 73554226 single base substitution C T intron_variant MELA-AU 17 73554226 73554226 single base substitution C T upstream_gene_variant MELA-AU 17 73554460 73554460 single base substitution C T downstream_gene_variant MELA-AU 17 73554460 73554460 single base substitution C T intron_variant MELA-AU 17 73554460 73554460 single base substitution C T upstream_gene_variant MELA-AU 17 73554674 73554674 single base substitution G A downstream_gene_variant MELA-AU 17 73554674 73554674 single base substitution G A exon_variant MELA-AU 17 73554674 73554674 single base substitution G A missense_variant E113K 337G>A MELA-AU 17 73554674 73554674 single base substitution G A missense_variant E114K 340G>A MELA-AU 17 73554674 73554674 single base substitution G A upstream_gene_variant MELA-AU 17 73554729 73554729 single base substitution C T downstream_gene_variant MELA-AU 17 73554729 73554729 single base substitution C T intron_variant MELA-AU 17 73554729 73554729 single base substitution C T upstream_gene_variant MELA-AU 17 73555205 73555205 single base substitution T A downstream_gene_variant MELA-AU 17 73555205 73555205 single base substitution T A exon_variant MELA-AU 17 73555205 73555205 single base substitution T A intron_variant MELA-AU 17 73555205 73555205 single base substitution T A upstream_gene_variant MELA-AU 17 73555275 73555275 single base substitution C T downstream_gene_variant MELA-AU 17 73555275 73555275 single base substitution C T exon_variant MELA-AU 17 73555275 73555275 single base substitution C T intron_variant MELA-AU 17 73555275 73555275 single base substitution C T upstream_gene_variant MELA-AU 17 73555299 73555299 single base substitution G A downstream_gene_variant MELA-AU 17 73555299 73555299 single base substitution G A exon_variant MELA-AU 17 73555299 73555299 single base substitution G A intron_variant MELA-AU 17 73555299 73555299 single base substitution G A upstream_gene_variant MELA-AU 17 73555595 73555595 single base substitution G A downstream_gene_variant MELA-AU 17 73555595 73555595 single base substitution G A intron_variant MELA-AU 17 73555595 73555595 single base substitution G A upstream_gene_variant MELA-AU 17 73555600 73555600 single base substitution C T downstream_gene_variant MELA-AU 17 73555600 73555600 single base substitution C T intron_variant MELA-AU 17 73555600 73555600 single base substitution C T upstream_gene_variant MELA-AU 17 73555605 73555605 single base substitution G A downstream_gene_variant MELA-AU 17 73555605 73555605 single base substitution G A intron_variant MELA-AU 17 73555605 73555605 single base substitution G A upstream_gene_variant MELA-AU 17 73555782 73555782 single base substitution G A downstream_gene_variant MELA-AU 17 73555782 73555782 single base substitution G A intron_variant MELA-AU 17 73555782 73555782 single base substitution G A upstream_gene_variant MELA-AU 17 73555892 73555892 single base substitution C T downstream_gene_variant MELA-AU 17 73555892 73555892 single base substitution C T intron_variant MELA-AU 17 73555892 73555892 single base substitution C T upstream_gene_variant MELA-AU 17 73556244 73556244 single base substitution C T downstream_gene_variant MELA-AU 17 73556244 73556244 single base substitution C T intron_variant MELA-AU 17 73556244 73556244 single base substitution C T upstream_gene_variant MELA-AU 17 73556494 73556494 single base substitution G A downstream_gene_variant MELA-AU 17 73556494 73556494 single base substitution G A intron_variant MELA-AU 17 73556494 73556494 single base substitution G A upstream_gene_variant MELA-AU 17 73556583 73556583 single base substitution T G downstream_gene_variant MELA-AU 17 73556583 73556583 single base substitution T G intron_variant MELA-AU 17 73556583 73556583 single base substitution T G upstream_gene_variant MELA-AU 17 73557199 73557199 single base substitution C T downstream_gene_variant MELA-AU 17 73557199 73557199 single base substitution C T intron_variant MELA-AU 17 73557199 73557199 single base substitution C T upstream_gene_variant MELA-AU 17 73557398 73557398 single base substitution C T downstream_gene_variant MELA-AU 17 73557398 73557398 single base substitution C T intron_variant MELA-AU 17 73557398 73557398 single base substitution C T upstream_gene_variant MELA-AU 17 73557481 73557481 single base substitution G A downstream_gene_variant MELA-AU 17 73557481 73557481 single base substitution G A intron_variant MELA-AU 17 73557481 73557481 single base substitution G A upstream_gene_variant MELA-AU 17 73557629 73557629 single base substitution G A downstream_gene_variant MELA-AU 17 73557629 73557629 single base substitution G A intron_variant MELA-AU 17 73557629 73557629 single base substitution G A upstream_gene_variant MELA-AU 17 73557651 73557651 single base substitution A C downstream_gene_variant MELA-AU 17 73557651 73557651 single base substitution A C intron_variant MELA-AU 17 73557651 73557651 single base substitution A C upstream_gene_variant MELA-AU 17 73558065 73558065 single base substitution T C downstream_gene_variant MELA-AU 17 73558065 73558065 single base substitution T C intron_variant MELA-AU 17 73558065 73558065 single base substitution T C upstream_gene_variant MELA-AU 17 73558625 73558625 single base substitution C T downstream_gene_variant MELA-AU 17 73558625 73558625 single base substitution C T exon_variant MELA-AU 17 73558625 73558625 single base substitution C T intron_variant MELA-AU 17 73558625 73558625 single base substitution C T upstream_gene_variant MELA-AU 17 73559016 73559016 single base substitution G A downstream_gene_variant MELA-AU 17 73559016 73559016 single base substitution G A exon_variant MELA-AU 17 73559016 73559016 single base substitution G A intron_variant MELA-AU 17 73559016 73559016 single base substitution G A upstream_gene_variant MELA-AU 17 73559053 73559053 single base substitution C T downstream_gene_variant MELA-AU 17 73559053 73559053 single base substitution C T exon_variant MELA-AU 17 73559053 73559053 single base substitution C T intron_variant MELA-AU 17 73559053 73559053 single base substitution C T upstream_gene_variant MELA-AU 17 73559247 73559247 single base substitution C T downstream_gene_variant MELA-AU 17 73559247 73559247 single base substitution C T exon_variant MELA-AU 17 73559247 73559247 single base substitution C T synonymous_variant F227F 681C>T MELA-AU 17 73559247 73559247 single base substitution C T upstream_gene_variant MELA-AU 17 73559301 73559302 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 73559301 73559302 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 17 73559301 73559302 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 73559301 73559302 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 73559403 73559403 single base substitution C T downstream_gene_variant MELA-AU 17 73559403 73559403 single base substitution C T exon_variant MELA-AU 17 73559403 73559403 single base substitution C T intron_variant MELA-AU 17 73559403 73559403 single base substitution C T upstream_gene_variant MELA-AU 17 73559492 73559492 single base substitution C T downstream_gene_variant MELA-AU 17 73559492 73559492 single base substitution C T exon_variant MELA-AU 17 73559492 73559492 single base substitution C T synonymous_variant P258P 774C>T MELA-AU 17 73559492 73559492 single base substitution C T upstream_gene_variant MELA-AU 17 73559691 73559691 single base substitution C A downstream_gene_variant MELA-AU 17 73559691 73559691 single base substitution C A exon_variant MELA-AU 17 73559691 73559691 single base substitution C A intron_variant MELA-AU 17 73559691 73559691 single base substitution C A upstream_gene_variant MELA-AU 17 73559825 73559825 single base substitution C T downstream_gene_variant MELA-AU 17 73559825 73559825 single base substitution C T exon_variant MELA-AU 17 73559825 73559825 single base substitution C T splice_region_variant MELA-AU 17 73559825 73559825 single base substitution C T upstream_gene_variant MELA-AU 17 73559836 73559836 single base substitution C T downstream_gene_variant MELA-AU 17 73559836 73559836 single base substitution C T exon_variant MELA-AU 17 73559836 73559836 single base substitution C T missense_variant P277L 830C>T MELA-AU 17 73559836 73559836 single base substitution C T upstream_gene_variant MELA-AU 17 73559842 73559842 single base substitution C T downstream_gene_variant MELA-AU 17 73559842 73559842 single base substitution C T exon_variant MELA-AU 17 73559842 73559842 single base substitution C T missense_variant P279L 836C>T MELA-AU 17 73559842 73559842 single base substitution C T upstream_gene_variant MELA-AU 17 73560068 73560068 single base substitution C T downstream_gene_variant MELA-AU 17 73560068 73560068 single base substitution C T intron_variant MELA-AU 17 73560068 73560068 single base substitution C T upstream_gene_variant MELA-AU 17 73560328 73560329 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 73560328 73560329 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 73560328 73560329 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 73560397 73560397 single base substitution G A downstream_gene_variant MELA-AU 17 73560397 73560397 single base substitution G A intron_variant MELA-AU 17 73560397 73560397 single base substitution G A upstream_gene_variant MELA-AU 17 73560427 73560427 single base substitution C T downstream_gene_variant MELA-AU 17 73560427 73560427 single base substitution C T intron_variant MELA-AU 17 73560427 73560427 single base substitution C T splice_region_variant MELA-AU 17 73560427 73560427 single base substitution C T upstream_gene_variant MELA-AU 17 73560446 73560446 single base substitution C T downstream_gene_variant MELA-AU 17 73560446 73560446 single base substitution C T exon_variant MELA-AU 17 73560446 73560446 single base substitution C T synonymous_variant T298T 894C>T MELA-AU 17 73560446 73560446 single base substitution C T upstream_gene_variant MELA-AU 17 73560482 73560482 single base substitution G A downstream_gene_variant MELA-AU 17 73560482 73560482 single base substitution G A exon_variant MELA-AU 17 73560482 73560482 single base substitution G A synonymous_variant G310G 930G>A MELA-AU 17 73560482 73560482 single base substitution G A upstream_gene_variant MELA-AU 17 73560979 73560979 single base substitution C A downstream_gene_variant MELA-AU 17 73560979 73560979 single base substitution C A intron_variant MELA-AU 17 73560979 73560979 single base substitution C A upstream_gene_variant MELA-AU 17 73560997 73560997 single base substitution C T downstream_gene_variant MELA-AU 17 73560997 73560997 single base substitution C T intron_variant MELA-AU 17 73560997 73560997 single base substitution C T upstream_gene_variant MELA-AU 17 73561185 73561185 single base substitution G A downstream_gene_variant MELA-AU 17 73561185 73561185 single base substitution G A intron_variant MELA-AU 17 73561185 73561185 single base substitution G A upstream_gene_variant MELA-AU 17 73561535 73561535 single base substitution C T downstream_gene_variant MELA-AU 17 73561535 73561535 single base substitution C T intron_variant MELA-AU 17 73561535 73561535 single base substitution C T upstream_gene_variant MELA-AU 17 73561539 73561539 single base substitution C T downstream_gene_variant MELA-AU 17 73561539 73561539 single base substitution C T intron_variant MELA-AU 17 73561539 73561539 single base substitution C T upstream_gene_variant MELA-AU 17 73561720 73561720 single base substitution G A downstream_gene_variant MELA-AU 17 73561720 73561720 single base substitution G A intron_variant MELA-AU 17 73561720 73561720 single base substitution G A upstream_gene_variant MELA-AU 17 73561730 73561730 single base substitution G A downstream_gene_variant MELA-AU 17 73561730 73561730 single base substitution G A intron_variant MELA-AU 17 73561730 73561730 single base substitution G A upstream_gene_variant MELA-AU 17 73561996 73561996 single base substitution C T downstream_gene_variant MELA-AU 17 73561996 73561996 single base substitution C T intron_variant MELA-AU 17 73561996 73561996 single base substitution C T upstream_gene_variant MELA-AU 17 73562205 73562205 single base substitution G A downstream_gene_variant MELA-AU 17 73562205 73562205 single base substitution G A intron_variant MELA-AU 17 73562205 73562205 single base substitution G A upstream_gene_variant MELA-AU 17 73562230 73562230 single base substitution C T downstream_gene_variant MELA-AU 17 73562230 73562230 single base substitution C T intron_variant MELA-AU 17 73562230 73562230 single base substitution C T upstream_gene_variant MELA-AU 17 73562423 73562423 single base substitution G A downstream_gene_variant MELA-AU 17 73562423 73562423 single base substitution G A intron_variant MELA-AU 17 73562423 73562423 single base substitution G A upstream_gene_variant MELA-AU 17 73562610 73562610 single base substitution C T downstream_gene_variant MELA-AU 17 73562610 73562610 single base substitution C T intron_variant MELA-AU 17 73562610 73562610 single base substitution C T upstream_gene_variant MELA-AU 17 73562832 73562832 single base substitution C T downstream_gene_variant MELA-AU 17 73562832 73562832 single base substitution C T intron_variant MELA-AU 17 73562832 73562832 single base substitution C T upstream_gene_variant MELA-AU 17 73562982 73562982 single base substitution C T downstream_gene_variant MELA-AU 17 73562982 73562982 single base substitution C T intron_variant MELA-AU 17 73562982 73562982 single base substitution C T upstream_gene_variant MELA-AU 17 73563171 73563171 single base substitution T G downstream_gene_variant MELA-AU 17 73563171 73563171 single base substitution T G intron_variant MELA-AU 17 73563171 73563171 single base substitution T G upstream_gene_variant MELA-AU 17 73563292 73563292 single base substitution C T downstream_gene_variant MELA-AU 17 73563292 73563292 single base substitution C T intron_variant MELA-AU 17 73563292 73563292 single base substitution C T upstream_gene_variant MELA-AU 17 73563474 73563474 single base substitution G A downstream_gene_variant MELA-AU 17 73563474 73563474 single base substitution G A intron_variant MELA-AU 17 73563474 73563474 single base substitution G A upstream_gene_variant MELA-AU 17 73563539 73563539 single base substitution C T downstream_gene_variant MELA-AU 17 73563539 73563539 single base substitution C T intron_variant MELA-AU 17 73563539 73563539 single base substitution C T upstream_gene_variant MELA-AU 17 73563540 73563540 single base substitution C T downstream_gene_variant MELA-AU 17 73563540 73563540 single base substitution C T intron_variant MELA-AU 17 73563540 73563540 single base substitution C T upstream_gene_variant MELA-AU 17 73563674 73563674 single base substitution C T downstream_gene_variant MELA-AU 17 73563674 73563674 single base substitution C T intron_variant MELA-AU 17 73563674 73563674 single base substitution C T upstream_gene_variant MELA-AU 17 73563796 73563796 single base substitution G A downstream_gene_variant MELA-AU 17 73563796 73563796 single base substitution G A intron_variant MELA-AU 17 73563796 73563796 single base substitution G A upstream_gene_variant MELA-AU 17 73564306 73564306 single base substitution C T downstream_gene_variant MELA-AU 17 73564306 73564306 single base substitution C T exon_variant MELA-AU 17 73564306 73564306 single base substitution C T intron_variant MELA-AU 17 73564306 73564306 single base substitution C T upstream_gene_variant MELA-AU 17 73564697 73564697 single base substitution G A downstream_gene_variant MELA-AU 17 73564697 73564697 single base substitution G A exon_variant MELA-AU 17 73564697 73564697 single base substitution G A intron_variant MELA-AU 17 73564697 73564697 single base substitution G A missense_variant V393I 1177G>A MELA-AU 17 73564697 73564697 single base substitution G A upstream_gene_variant MELA-AU 17 73564824 73564824 single base substitution C T downstream_gene_variant MELA-AU 17 73564824 73564824 single base substitution C T intron_variant MELA-AU 17 73564824 73564824 single base substitution C T upstream_gene_variant MELA-AU 17 73564904 73564904 single base substitution G A 3_prime_UTR_variant MELA-AU 17 73564904 73564904 single base substitution G A downstream_gene_variant MELA-AU 17 73564904 73564904 single base substitution G A exon_variant MELA-AU 17 73564904 73564904 single base substitution G A missense_variant D436N 1306G>A MELA-AU 17 73564904 73564904 single base substitution G A upstream_gene_variant MELA-AU 17 73565358 73565358 single base substitution C T 3_prime_UTR_variant MELA-AU 17 73565358 73565358 single base substitution C T downstream_gene_variant MELA-AU 17 73565358 73565358 single base substitution C T exon_variant MELA-AU 17 73565358 73565358 single base substitution C T synonymous_variant F511F 1533C>T MELA-AU 17 73565358 73565358 single base substitution C T upstream_gene_variant MELA-AU 17 73565474 73565474 single base substitution G A downstream_gene_variant MELA-AU 17 73565474 73565474 single base substitution G A intron_variant MELA-AU 17 73565474 73565474 single base substitution G A upstream_gene_variant MELA-AU 17 73565518 73565518 single base substitution C T downstream_gene_variant MELA-AU 17 73565518 73565518 single base substitution C T intron_variant MELA-AU 17 73565518 73565518 single base substitution C T upstream_gene_variant MELA-AU 17 73565558 73565559 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 73565558 73565559 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 73565558 73565559 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 73565940 73565940 single base substitution C T intron_variant MELA-AU 17 73565940 73565940 single base substitution C T upstream_gene_variant MELA-AU 17 73566240 73566240 single base substitution C T 3_prime_UTR_variant MELA-AU 17 73566240 73566240 single base substitution C T exon_variant MELA-AU 17 73566240 73566240 single base substitution C T missense_variant S593F 1778C>T MELA-AU 17 73566240 73566240 single base substitution C T upstream_gene_variant MELA-AU 17 73566331 73566331 single base substitution T C 3_prime_UTR_variant MELA-AU 17 73566331 73566331 single base substitution T C exon_variant MELA-AU 17 73566331 73566331 single base substitution T C synonymous_variant F623F 1869T>C MELA-AU 17 73566331 73566331 single base substitution T C upstream_gene_variant MELA-AU 17 73566346 73566346 single base substitution G A intron_variant MELA-AU 17 73566346 73566346 single base substitution G A upstream_gene_variant MELA-AU 17 73566361 73566361 single base substitution G A intron_variant MELA-AU 17 73566361 73566361 single base substitution G A upstream_gene_variant MELA-AU 17 73566476 73566476 single base substitution C T 3_prime_UTR_variant MELA-AU 17 73566476 73566476 single base substitution C T exon_variant MELA-AU 17 73566476 73566476 single base substitution C T missense_variant S641F 1922C>T MELA-AU 17 73566476 73566476 single base substitution C T upstream_gene_variant MELA-AU 17 73566548 73566548 single base substitution G A 3_prime_UTR_variant MELA-AU 17 73566548 73566548 single base substitution G A downstream_gene_variant MELA-AU 17 73566548 73566548 single base substitution G A exon_variant MELA-AU 17 73566548 73566548 single base substitution G A missense_variant R665Q 1994G>A MELA-AU 17 73566548 73566548 single base substitution G A upstream_gene_variant MELA-AU 17 73566623 73566623 single base substitution C T downstream_gene_variant MELA-AU 17 73566623 73566623 single base substitution C T intron_variant MELA-AU 17 73566623 73566623 single base substitution C T upstream_gene_variant MELA-AU 17 73566823 73566823 single base substitution C T downstream_gene_variant MELA-AU 17 73566823 73566823 single base substitution C T intron_variant MELA-AU 17 73566823 73566823 single base substitution C T upstream_gene_variant MELA-AU 17 73567019 73567019 single base substitution C T downstream_gene_variant MELA-AU 17 73567019 73567019 single base substitution C T intron_variant MELA-AU 17 73567019 73567019 single base substitution C T upstream_gene_variant MELA-AU 17 73567178 73567178 single base substitution G A 3_prime_UTR_variant MELA-AU 17 73567178 73567178 single base substitution G A downstream_gene_variant MELA-AU 17 73567178 73567178 single base substitution G A exon_variant MELA-AU 17 73567178 73567178 single base substitution G A missense_variant D725N 2173G>A MELA-AU 17 73567178 73567178 single base substitution G A upstream_gene_variant MELA-AU 17 73567235 73567235 single base substitution C T downstream_gene_variant MELA-AU 17 73567235 73567235 single base substitution C T intron_variant MELA-AU 17 73567235 73567235 single base substitution C T upstream_gene_variant MELA-AU 17 73567654 73567654 single base substitution C T downstream_gene_variant MELA-AU 17 73567654 73567654 single base substitution C T exon_variant MELA-AU 17 73567654 73567654 single base substitution C T intron_variant MELA-AU 17 73567654 73567654 single base substitution C T upstream_gene_variant MELA-AU 17 73567752 73567752 single base substitution C T 3_prime_UTR_variant MELA-AU 17 73567752 73567752 single base substitution C T downstream_gene_variant MELA-AU 17 73567752 73567752 single base substitution C T exon_variant MELA-AU 17 73567752 73567752 single base substitution C T synonymous_variant S727S 2181C>T MELA-AU 17 73567752 73567752 single base substitution C T upstream_gene_variant MELA-AU 17 73567809 73567809 single base substitution C T 3_prime_UTR_variant MELA-AU 17 73567809 73567809 single base substitution C T downstream_gene_variant MELA-AU 17 73567809 73567809 single base substitution C T exon_variant MELA-AU 17 73567809 73567809 single base substitution C T synonymous_variant S746S 2238C>T MELA-AU 17 73567809 73567809 single base substitution C T upstream_gene_variant MELA-AU 17 73568034 73568034 single base substitution C T 3_prime_UTR_variant MELA-AU 17 73568034 73568034 single base substitution C T downstream_gene_variant MELA-AU 17 73568034 73568034 single base substitution C T exon_variant MELA-AU 17 73568034 73568034 single base substitution C T synonymous_variant D783D 2349C>T MELA-AU 17 73568034 73568034 single base substitution C T upstream_gene_variant MELA-AU 17 73568088 73568088 single base substitution G A 3_prime_UTR_variant MELA-AU 17 73568088 73568088 single base substitution G A downstream_gene_variant MELA-AU 17 73568088 73568088 single base substitution G A exon_variant MELA-AU 17 73568088 73568088 single base substitution G A synonymous_variant K801K 2403G>A MELA-AU 17 73568088 73568088 single base substitution G A upstream_gene_variant MELA-AU 17 73568094 73568094 single base substitution T C 3_prime_UTR_variant MELA-AU 17 73568094 73568094 single base substitution T C downstream_gene_variant MELA-AU 17 73568094 73568094 single base substitution T C exon_variant MELA-AU 17 73568094 73568094 single base substitution T C synonymous_variant P803P 2409T>C MELA-AU 17 73568094 73568094 single base substitution T C upstream_gene_variant MELA-AU 17 73568124 73568124 single base substitution C T 3_prime_UTR_variant MELA-AU 17 73568124 73568124 single base substitution C T downstream_gene_variant MELA-AU 17 73568124 73568124 single base substitution C T exon_variant MELA-AU 17 73568124 73568124 single base substitution C T synonymous_variant V813V 2439C>T MELA-AU 17 73568124 73568124 single base substitution C T upstream_gene_variant MELA-AU 17 73568320 73568320 single base substitution G A downstream_gene_variant MELA-AU 17 73568320 73568320 single base substitution G A intron_variant MELA-AU 17 73568320 73568320 single base substitution G A upstream_gene_variant MELA-AU 17 73568325 73568325 single base substitution G A downstream_gene_variant MELA-AU 17 73568325 73568325 single base substitution G A intron_variant MELA-AU 17 73568325 73568325 single base substitution G A upstream_gene_variant MELA-AU 17 73568493 73568493 single base substitution C T downstream_gene_variant MELA-AU 17 73568493 73568493 single base substitution C T intron_variant MELA-AU 17 73568493 73568493 single base substitution C T upstream_gene_variant MELA-AU 17 73568511 73568511 single base substitution G A downstream_gene_variant MELA-AU 17 73568511 73568511 single base substitution G A intron_variant MELA-AU 17 73568511 73568511 single base substitution G A upstream_gene_variant MELA-AU 17 73568693 73568693 single base substitution C T downstream_gene_variant MELA-AU 17 73568693 73568693 single base substitution C T intron_variant MELA-AU 17 73568693 73568693 single base substitution C T upstream_gene_variant MELA-AU 17 73569019 73569019 single base substitution G A downstream_gene_variant MELA-AU 17 73569019 73569019 single base substitution G A intron_variant MELA-AU 17 73569019 73569019 single base substitution G A upstream_gene_variant MELA-AU 17 73569281 73569281 single base substitution C T 3_prime_UTR_variant MELA-AU 17 73569281 73569281 single base substitution C T downstream_gene_variant MELA-AU 17 73569281 73569281 single base substitution C T exon_variant MELA-AU 17 73569281 73569281 single base substitution C T missense_variant P883S 2647C>T MELA-AU 17 73569281 73569281 single base substitution C T upstream_gene_variant MELA-AU 17 73569311 73569311 single base substitution G A 3_prime_UTR_variant MELA-AU 17 73569311 73569311 single base substitution G A downstream_gene_variant MELA-AU 17 73569311 73569311 single base substitution G A exon_variant MELA-AU 17 73569311 73569311 single base substitution G A missense_variant E893K 2677G>A MELA-AU 17 73569311 73569311 single base substitution G A upstream_gene_variant MELA-AU 17 73569744 73569745 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 73569744 73569745 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 73569744 73569745 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 73569854 73569854 single base substitution C T downstream_gene_variant MELA-AU 17 73569854 73569854 single base substitution C T intron_variant MELA-AU 17 73569854 73569854 single base substitution C T upstream_gene_variant MELA-AU 17 73570066 73570066 single base substitution G A downstream_gene_variant MELA-AU 17 73570066 73570066 single base substitution G A intron_variant MELA-AU 17 73570066 73570066 single base substitution G A splice_region_variant MELA-AU 17 73570066 73570066 single base substitution G A upstream_gene_variant MELA-AU 17 73570225 73570225 single base substitution G A downstream_gene_variant MELA-AU 17 73570225 73570225 single base substitution G A exon_variant MELA-AU 17 73570225 73570225 single base substitution G A intron_variant MELA-AU 17 73570225 73570225 single base substitution G A upstream_gene_variant MELA-AU 17 73570303 73570303 single base substitution C T 3_prime_UTR_variant MELA-AU 17 73570303 73570303 single base substitution C T downstream_gene_variant MELA-AU 17 73570303 73570303 single base substitution C T exon_variant MELA-AU 17 73570303 73570303 single base substitution C T missense_variant P972L 2915C>T MELA-AU 17 73570497 73570497 single base substitution G A downstream_gene_variant MELA-AU 17 73570497 73570497 single base substitution G A exon_variant MELA-AU 17 73570497 73570497 single base substitution G A intron_variant MELA-AU 17 73570572 73570572 single base substitution C T 3_prime_UTR_variant MELA-AU 17 73570572 73570572 single base substitution C T downstream_gene_variant MELA-AU 17 73570572 73570572 single base substitution C T exon_variant MELA-AU 17 73570572 73570572 single base substitution C T intron_variant MELA-AU 17 73570572 73570572 single base substitution C T missense_variant R998C 2992C>T MELA-AU 17 73570832 73570832 single base substitution C T downstream_gene_variant MELA-AU 17 73570832 73570832 single base substitution C T intron_variant MELA-AU 17 73571036 73571036 single base substitution G A 3_prime_UTR_variant MELA-AU 17 73571036 73571036 single base substitution G A downstream_gene_variant MELA-AU 17 73571036 73571036 single base substitution G A exon_variant MELA-AU 17 73571323 73571323 single base substitution G A downstream_gene_variant MELA-AU 17 73571444 73571444 single base substitution C T downstream_gene_variant MELA-AU 17 73571498 73571498 single base substitution G A downstream_gene_variant MELA-AU 17 73571681 73571681 single base substitution G A downstream_gene_variant MELA-AU 17 73572140 73572140 single base substitution C T downstream_gene_variant MELA-AU 17 73572147 73572147 single base substitution G A downstream_gene_variant MELA-AU 17 73572148 73572148 single base substitution G A downstream_gene_variant MELA-AU 17 73572194 73572194 single base substitution G A downstream_gene_variant MELA-AU 17 73572223 73572223 single base substitution G A downstream_gene_variant MELA-AU 17 73572671 73572671 single base substitution G A downstream_gene_variant MELA-AU 17 73572700 73572700 single base substitution G A downstream_gene_variant MELA-AU 17 73572908 73572908 single base substitution G A downstream_gene_variant MELA-AU 17 73572942 73572943 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 73573043 73573043 single base substitution C T downstream_gene_variant MELA-AU 17 73573462 73573462 single base substitution G A downstream_gene_variant MELA-AU 17 73573574 73573574 single base substitution C T downstream_gene_variant MELA-AU 17 73573680 73573680 single base substitution G A downstream_gene_variant MELA-AU 17 73573715 73573715 single base substitution C T downstream_gene_variant MELA-AU 17 73573819 73573819 single base substitution G A downstream_gene_variant MELA-AU 17 73574173 73574173 single base substitution G A downstream_gene_variant MELA-AU 17 73574209 73574209 single base substitution G A downstream_gene_variant MELA-AU 17 73574336 73574336 single base substitution C T downstream_gene_variant MELA-AU 17 73574595 73574595 single base substitution G A downstream_gene_variant MELA-AU 17 73574625 73574625 single base substitution G A downstream_gene_variant MELA-AU 17 73575060 73575060 single base substitution G A downstream_gene_variant MELA-AU 17 73575977 73575977 single base substitution G A downstream_gene_variant MELA-AU 17 73576251 73576251 single base substitution C T downstream_gene_variant ORCA-IN 17 73519121 73519121 single base substitution G A upstream_gene_variant ORCA-IN 17 73538355 73538355 single base substitution G A intron_variant ORCA-IN 17 73538355 73538355 single base substitution G A upstream_gene_variant ORCA-IN 17 73550683 73550683 single base substitution G A intron_variant ORCA-IN 17 73550683 73550683 single base substitution G A upstream_gene_variant ORCA-IN 17 73564592 73564592 single base substitution G A downstream_gene_variant ORCA-IN 17 73564592 73564592 single base substitution G A exon_variant ORCA-IN 17 73564592 73564592 single base substitution G A intron_variant ORCA-IN 17 73564592 73564592 single base substitution G A missense_variant E358K 1072G>A ORCA-IN 17 73564592 73564592 single base substitution G A upstream_gene_variant OV-AU 17 73517986 73517986 single base substitution T G upstream_gene_variant OV-AU 17 73521114 73521114 single base substitution A C upstream_gene_variant OV-AU 17 73522400 73522400 single base substitution G T intron_variant OV-AU 17 73533720 73533720 single base substitution G C intron_variant OV-AU 17 73533720 73533720 single base substitution G C upstream_gene_variant OV-AU 17 73535704 73535704 single base substitution T A intron_variant OV-AU 17 73535704 73535704 single base substitution T A upstream_gene_variant OV-AU 17 73535750 73535750 single base substitution G C intron_variant OV-AU 17 73535750 73535750 single base substitution G C upstream_gene_variant OV-AU 17 73537579 73537579 single base substitution G T intron_variant OV-AU 17 73537579 73537579 single base substitution G T upstream_gene_variant OV-AU 17 73537843 73537843 single base substitution C G intron_variant OV-AU 17 73537843 73537843 single base substitution C G upstream_gene_variant OV-AU 17 73550451 73550451 single base substitution G C intron_variant OV-AU 17 73550451 73550451 single base substitution G C upstream_gene_variant OV-AU 17 73555372 73555372 single base substitution A G downstream_gene_variant OV-AU 17 73555372 73555372 single base substitution A G exon_variant OV-AU 17 73555372 73555372 single base substitution A G synonymous_variant P137P 411A>G OV-AU 17 73555372 73555372 single base substitution A G synonymous_variant P138P 414A>G OV-AU 17 73555372 73555372 single base substitution A G upstream_gene_variant OV-AU 17 73555990 73555990 single base substitution C G downstream_gene_variant OV-AU 17 73555990 73555990 single base substitution C G intron_variant OV-AU 17 73555990 73555990 single base substitution C G upstream_gene_variant OV-AU 17 73557999 73557999 single base substitution A G downstream_gene_variant OV-AU 17 73557999 73557999 single base substitution A G intron_variant OV-AU 17 73557999 73557999 single base substitution A G upstream_gene_variant OV-AU 17 73560023 73560023 single base substitution G C downstream_gene_variant OV-AU 17 73560023 73560023 single base substitution G C intron_variant OV-AU 17 73560023 73560023 single base substitution G C upstream_gene_variant OV-AU 17 73561454 73561454 single base substitution G A downstream_gene_variant OV-AU 17 73561454 73561454 single base substitution G A intron_variant OV-AU 17 73561454 73561454 single base substitution G A upstream_gene_variant OV-AU 17 73566526 73566526 single base substitution C T 3_prime_UTR_variant OV-AU 17 73566526 73566526 single base substitution C T downstream_gene_variant OV-AU 17 73566526 73566526 single base substitution C T exon_variant OV-AU 17 73566526 73566526 single base substitution C T missense_variant R658C 1972C>T OV-AU 17 73566526 73566526 single base substitution C T upstream_gene_variant OV-US 17 73555350 73555350 single base substitution C G downstream_gene_variant OV-US 17 73555350 73555350 single base substitution C G exon_variant OV-US 17 73555350 73555350 single base substitution C G missense_variant T130R 389C>G OV-US 17 73555350 73555350 single base substitution C G missense_variant T131R 392C>G OV-US 17 73555350 73555350 single base substitution C G upstream_gene_variant OV-US 17 73560554 73560568 deletion of <=200bp CTTCACTGTCCTCAC - disruptive_inframe_deletion GFTVLT334G OV-US 17 73560554 73560568 deletion of <=200bp CTTCACTGTCCTCAC - downstream_gene_variant OV-US 17 73560554 73560568 deletion of <=200bp CTTCACTGTCCTCAC - exon_variant OV-US 17 73560554 73560568 deletion of <=200bp CTTCACTGTCCTCAC - upstream_gene_variant PACA-AU 17 73526693 73526693 single base substitution T A intron_variant PACA-AU 17 73526693 73526693 single base substitution T A upstream_gene_variant PACA-AU 17 73538656 73538656 single base substitution C A intron_variant PACA-AU 17 73538656 73538656 single base substitution C A upstream_gene_variant PACA-AU 17 73538859 73538859 insertion of <=200bp - C 5_prime_UTR_variant PACA-AU 17 73538859 73538859 insertion of <=200bp - C intron_variant PACA-AU 17 73538859 73538859 insertion of <=200bp - C upstream_gene_variant PACA-AU 17 73546537 73546537 single base substitution G T intron_variant PACA-AU 17 73546900 73546900 single base substitution C A intron_variant PACA-AU 17 73550167 73550167 single base substitution G A intron_variant PACA-AU 17 73550167 73550167 single base substitution G A upstream_gene_variant PACA-AU 17 73550985 73550985 deletion of <=200bp T - intron_variant PACA-AU 17 73550985 73550985 deletion of <=200bp T - upstream_gene_variant PACA-AU 17 73551936 73551936 single base substitution A G intron_variant PACA-AU 17 73551936 73551936 single base substitution A G upstream_gene_variant PACA-AU 17 73554711 73554711 single base substitution A G downstream_gene_variant PACA-AU 17 73554711 73554711 single base substitution A G splice_region_variant PACA-AU 17 73554711 73554711 single base substitution A G upstream_gene_variant PACA-AU 17 73558079 73558079 single base substitution A G downstream_gene_variant PACA-AU 17 73558079 73558079 single base substitution A G intron_variant PACA-AU 17 73558079 73558079 single base substitution A G upstream_gene_variant PACA-AU 17 73558261 73558261 single base substitution G T downstream_gene_variant PACA-AU 17 73558261 73558261 single base substitution G T intron_variant PACA-AU 17 73558261 73558261 single base substitution G T upstream_gene_variant PACA-AU 17 73561291 73561291 single base substitution C T downstream_gene_variant PACA-AU 17 73561291 73561291 single base substitution C T intron_variant PACA-AU 17 73561291 73561291 single base substitution C T upstream_gene_variant PACA-AU 17 73564036 73564036 single base substitution A G downstream_gene_variant PACA-AU 17 73564036 73564036 single base substitution A G exon_variant PACA-AU 17 73564036 73564036 single base substitution A G intron_variant PACA-AU 17 73564036 73564036 single base substitution A G upstream_gene_variant PACA-AU 17 73567248 73567248 single base substitution C A downstream_gene_variant PACA-AU 17 73567248 73567248 single base substitution C A intron_variant PACA-AU 17 73567248 73567248 single base substitution C A upstream_gene_variant PACA-AU 17 73570575 73570575 single base substitution G A downstream_gene_variant PACA-AU 17 73570575 73570575 single base substitution G A exon_variant PACA-AU 17 73570575 73570575 single base substitution G A intron_variant PACA-AU 17 73570575 73570575 single base substitution G A missense_variant G999R 2995G>A PACA-AU 17 73570575 73570575 single base substitution G A splice_region_variant PACA-AU 17 73571226 73571226 single base substitution T C 3_prime_UTR_variant PACA-AU 17 73571226 73571226 single base substitution T C downstream_gene_variant PACA-AU 17 73571226 73571226 single base substitution T C exon_variant PACA-CA 17 73519413 73519413 single base substitution C T upstream_gene_variant PACA-CA 17 73519815 73519815 single base substitution G A upstream_gene_variant PACA-CA 17 73521701 73521701 single base substitution G A intron_variant PACA-CA 17 73521701 73521701 single base substitution G A upstream_gene_variant PACA-CA 17 73522696 73522696 single base substitution T C intron_variant PACA-CA 17 73524257 73524257 single base substitution C T intron_variant PACA-CA 17 73524257 73524257 single base substitution C T upstream_gene_variant PACA-CA 17 73528120 73528120 single base substitution T G intron_variant PACA-CA 17 73528120 73528120 single base substitution T G upstream_gene_variant PACA-CA 17 73528510 73528510 insertion of <=200bp - T intron_variant PACA-CA 17 73528510 73528510 insertion of <=200bp - T upstream_gene_variant PACA-CA 17 73530572 73530572 single base substitution C T intron_variant PACA-CA 17 73530839 73530839 single base substitution G T intron_variant PACA-CA 17 73534103 73534103 single base substitution G A intron_variant PACA-CA 17 73534103 73534103 single base substitution G A upstream_gene_variant PACA-CA 17 73536914 73536914 single base substitution G A intron_variant PACA-CA 17 73536914 73536914 single base substitution G A upstream_gene_variant PACA-CA 17 73539447 73539447 single base substitution C G 5_prime_UTR_variant PACA-CA 17 73539447 73539447 single base substitution C G intron_variant PACA-CA 17 73539447 73539447 single base substitution C G upstream_gene_variant PACA-CA 17 73550027 73550027 single base substitution C T intron_variant PACA-CA 17 73550027 73550027 single base substitution C T upstream_gene_variant PACA-CA 17 73553513 73553513 single base substitution C A downstream_gene_variant PACA-CA 17 73553513 73553513 single base substitution C A intron_variant PACA-CA 17 73553513 73553513 single base substitution C A upstream_gene_variant PACA-CA 17 73555319 73555319 single base substitution T C downstream_gene_variant PACA-CA 17 73555319 73555319 single base substitution T C exon_variant PACA-CA 17 73555319 73555319 single base substitution T C intron_variant PACA-CA 17 73555319 73555319 single base substitution T C upstream_gene_variant PACA-CA 17 73557685 73557685 single base substitution G A downstream_gene_variant PACA-CA 17 73557685 73557685 single base substitution G A intron_variant PACA-CA 17 73557685 73557685 single base substitution G A upstream_gene_variant PACA-CA 17 73562147 73562147 single base substitution G A downstream_gene_variant PACA-CA 17 73562147 73562147 single base substitution G A intron_variant PACA-CA 17 73562147 73562147 single base substitution G A upstream_gene_variant PACA-CA 17 73562309 73562309 single base substitution C T downstream_gene_variant PACA-CA 17 73562309 73562309 single base substitution C T intron_variant PACA-CA 17 73562309 73562309 single base substitution C T upstream_gene_variant PACA-CA 17 73564287 73564287 single base substitution G A downstream_gene_variant PACA-CA 17 73564287 73564287 single base substitution G A exon_variant PACA-CA 17 73564287 73564287 single base substitution G A intron_variant PACA-CA 17 73564287 73564287 single base substitution G A upstream_gene_variant PACA-CA 17 73567753 73567753 single base substitution C T 3_prime_UTR_variant PACA-CA 17 73567753 73567753 single base substitution C T downstream_gene_variant PACA-CA 17 73567753 73567753 single base substitution C T exon_variant PACA-CA 17 73567753 73567753 single base substitution C T missense_variant R728W 2182C>T PACA-CA 17 73567753 73567753 single base substitution C T upstream_gene_variant PACA-CA 17 73572908 73572908 single base substitution G A downstream_gene_variant PACA-CA 17 73575103 73575103 single base substitution A G downstream_gene_variant PAEN-AU 17 73534246 73534246 single base substitution G C intron_variant PAEN-AU 17 73534246 73534246 single base substitution G C upstream_gene_variant PAEN-AU 17 73547563 73547563 single base substitution T G intron_variant PAEN-AU 17 73569390 73569390 single base substitution G A downstream_gene_variant PAEN-AU 17 73569390 73569390 single base substitution G A intron_variant PAEN-AU 17 73569390 73569390 single base substitution G A upstream_gene_variant PBCA-DE 17 73518413 73518413 single base substitution A G upstream_gene_variant PBCA-DE 17 73530561 73530561 deletion of <=200bp T - intron_variant PBCA-DE 17 73531482 73531482 single base substitution C G intron_variant PBCA-DE 17 73546547 73546547 single base substitution A G intron_variant PBCA-DE 17 73559286 73559286 single base substitution C T downstream_gene_variant PBCA-DE 17 73559286 73559286 single base substitution C T exon_variant PBCA-DE 17 73559286 73559286 single base substitution C T intron_variant PBCA-DE 17 73559286 73559286 single base substitution C T upstream_gene_variant PBCA-DE 17 73561707 73561707 single base substitution G A downstream_gene_variant PBCA-DE 17 73561707 73561707 single base substitution G A intron_variant PBCA-DE 17 73561707 73561707 single base substitution G A upstream_gene_variant PBCA-DE 17 73562903 73562903 single base substitution C T downstream_gene_variant PBCA-DE 17 73562903 73562903 single base substitution C T intron_variant PBCA-DE 17 73562903 73562903 single base substitution C T upstream_gene_variant PBCA-DE 17 73563688 73563688 single base substitution C A downstream_gene_variant PBCA-DE 17 73563688 73563688 single base substitution C A intron_variant PBCA-DE 17 73563688 73563688 single base substitution C A upstream_gene_variant PBCA-DE 17 73573382 73573382 single base substitution A G downstream_gene_variant PRAD-CA 17 73522765 73522765 single base substitution C G intron_variant PRAD-CA 17 73526148 73526148 single base substitution G C intron_variant PRAD-CA 17 73526148 73526148 single base substitution G C upstream_gene_variant PRAD-CA 17 73550214 73550214 single base substitution C T intron_variant PRAD-CA 17 73550214 73550214 single base substitution C T upstream_gene_variant PRAD-CA 17 73555044 73555044 single base substitution C T downstream_gene_variant PRAD-CA 17 73555044 73555044 single base substitution C T intron_variant PRAD-CA 17 73555044 73555044 single base substitution C T upstream_gene_variant PRAD-CA 17 73562566 73562566 single base substitution C T downstream_gene_variant PRAD-CA 17 73562566 73562566 single base substitution C T intron_variant PRAD-CA 17 73562566 73562566 single base substitution C T upstream_gene_variant PRAD-UK 17 73550827 73550827 single base substitution G A intron_variant PRAD-UK 17 73550827 73550827 single base substitution G A upstream_gene_variant PRAD-UK 17 73551119 73551119 single base substitution A C intron_variant PRAD-UK 17 73551119 73551119 single base substitution A C upstream_gene_variant PRAD-UK 17 73558100 73558100 single base substitution G A downstream_gene_variant PRAD-UK 17 73558100 73558100 single base substitution G A intron_variant PRAD-UK 17 73558100 73558100 single base substitution G A upstream_gene_variant PRAD-US 17 73518111 73518111 single base substitution G T upstream_gene_variant PRAD-US 17 73559543 73559543 single base substitution C T downstream_gene_variant PRAD-US 17 73559543 73559543 single base substitution C T exon_variant PRAD-US 17 73559543 73559543 single base substitution C T splice_region_variant PRAD-US 17 73559543 73559543 single base substitution C T upstream_gene_variant RECA-EU 17 73524551 73524551 single base substitution G T intron_variant RECA-EU 17 73524551 73524551 single base substitution G T upstream_gene_variant RECA-EU 17 73540960 73540960 single base substitution C A intron_variant RECA-EU 17 73540960 73540960 single base substitution C A upstream_gene_variant RECA-EU 17 73544029 73544029 single base substitution C A intron_variant RECA-EU 17 73549257 73549257 single base substitution T C intron_variant RECA-EU 17 73549257 73549257 single base substitution T C upstream_gene_variant RECA-EU 17 73570662 73570662 single base substitution C T downstream_gene_variant RECA-EU 17 73570662 73570662 single base substitution C T exon_variant RECA-EU 17 73570662 73570662 single base substitution C T intron_variant RECA-EU 17 73571554 73571554 single base substitution C A downstream_gene_variant SKCA-BR 17 73518378 73518378 single base substitution A C upstream_gene_variant SKCA-BR 17 73518646 73518646 single base substitution C T upstream_gene_variant SKCA-BR 17 73521659 73521659 single base substitution A C intron_variant SKCA-BR 17 73521659 73521659 single base substitution A C upstream_gene_variant SKCA-BR 17 73521666 73521666 single base substitution A G intron_variant SKCA-BR 17 73521666 73521666 single base substitution A G upstream_gene_variant SKCA-BR 17 73521679 73521679 single base substitution C T intron_variant SKCA-BR 17 73521679 73521679 single base substitution C T upstream_gene_variant SKCA-BR 17 73522860 73522860 single base substitution G A intron_variant SKCA-BR 17 73526728 73526730 deletion of <=200bp TTC - intron_variant SKCA-BR 17 73526728 73526730 deletion of <=200bp TTC - upstream_gene_variant SKCA-BR 17 73526729 73526731 deletion of <=200bp TCA - intron_variant SKCA-BR 17 73526729 73526731 deletion of <=200bp TCA - upstream_gene_variant SKCA-BR 17 73526731 73526731 single base substitution A C intron_variant SKCA-BR 17 73526731 73526731 single base substitution A C upstream_gene_variant SKCA-BR 17 73527793 73527793 single base substitution C T intron_variant SKCA-BR 17 73527793 73527793 single base substitution C T upstream_gene_variant SKCA-BR 17 73528698 73528698 single base substitution T G intron_variant SKCA-BR 17 73530208 73530208 single base substitution C T intron_variant SKCA-BR 17 73530788 73530788 single base substitution C T intron_variant SKCA-BR 17 73532504 73532504 single base substitution A C intron_variant SKCA-BR 17 73532512 73532512 single base substitution A C intron_variant SKCA-BR 17 73535493 73535493 single base substitution C T intron_variant SKCA-BR 17 73535493 73535493 single base substitution C T upstream_gene_variant SKCA-BR 17 73535567 73535567 single base substitution C T intron_variant SKCA-BR 17 73535567 73535567 single base substitution C T upstream_gene_variant SKCA-BR 17 73538634 73538634 single base substitution C T intron_variant SKCA-BR 17 73538634 73538634 single base substitution C T upstream_gene_variant SKCA-BR 17 73540289 73540289 single base substitution G A intron_variant SKCA-BR 17 73540289 73540289 single base substitution G A upstream_gene_variant SKCA-BR 17 73540395 73540395 single base substitution C T intron_variant SKCA-BR 17 73540395 73540395 single base substitution C T upstream_gene_variant SKCA-BR 17 73541658 73541658 single base substitution C T intron_variant SKCA-BR 17 73541658 73541658 single base substitution C T upstream_gene_variant SKCA-BR 17 73544360 73544363 deletion of <=200bp CTTT - intron_variant SKCA-BR 17 73544360 73544364 deletion of <=200bp CTTTT - intron_variant SKCA-BR 17 73546547 73546547 single base substitution A G intron_variant SKCA-BR 17 73548507 73548507 single base substitution T G intron_variant SKCA-BR 17 73549328 73549328 single base substitution C T intron_variant SKCA-BR 17 73549328 73549328 single base substitution C T upstream_gene_variant SKCA-BR 17 73551370 73551371 deletion of <=200bp TC - intron_variant SKCA-BR 17 73551370 73551371 deletion of <=200bp TC - upstream_gene_variant SKCA-BR 17 73553115 73553127 deletion of <=200bp CTTTTTTTTTTTT - downstream_gene_variant SKCA-BR 17 73553115 73553127 deletion of <=200bp CTTTTTTTTTTTT - intron_variant SKCA-BR 17 73553115 73553127 deletion of <=200bp CTTTTTTTTTTTT - upstream_gene_variant SKCA-BR 17 73553848 73553848 single base substitution G A downstream_gene_variant SKCA-BR 17 73553848 73553848 single base substitution G A intron_variant SKCA-BR 17 73553848 73553848 single base substitution G A upstream_gene_variant SKCA-BR 17 73553928 73553928 single base substitution T C downstream_gene_variant SKCA-BR 17 73553928 73553928 single base substitution T C exon_variant SKCA-BR 17 73553928 73553928 single base substitution T C intron_variant SKCA-BR 17 73553928 73553928 single base substitution T C upstream_gene_variant SKCA-BR 17 73554906 73554906 insertion of <=200bp - CGCCTCCTCCATCCACACCAT downstream_gene_variant SKCA-BR 17 73554906 73554906 insertion of <=200bp - CGCCTCCTCCATCCACACCAT intron_variant SKCA-BR 17 73554906 73554906 insertion of <=200bp - CGCCTCCTCCATCCACACCAT upstream_gene_variant SKCA-BR 17 73556507 73556507 insertion of <=200bp - CG downstream_gene_variant SKCA-BR 17 73556507 73556507 insertion of <=200bp - CG intron_variant SKCA-BR 17 73556507 73556507 insertion of <=200bp - CG upstream_gene_variant SKCA-BR 17 73557003 73557003 single base substitution C T downstream_gene_variant SKCA-BR 17 73557003 73557003 single base substitution C T intron_variant SKCA-BR 17 73557003 73557003 single base substitution C T upstream_gene_variant SKCA-BR 17 73559816 73559816 single base substitution G A downstream_gene_variant SKCA-BR 17 73559816 73559816 single base substitution G A exon_variant SKCA-BR 17 73559816 73559816 single base substitution G A intron_variant SKCA-BR 17 73559816 73559816 single base substitution G A upstream_gene_variant SKCA-BR 17 73559825 73559825 single base substitution C T downstream_gene_variant SKCA-BR 17 73559825 73559825 single base substitution C T exon_variant SKCA-BR 17 73559825 73559825 single base substitution C T splice_region_variant SKCA-BR 17 73559825 73559825 single base substitution C T upstream_gene_variant SKCA-BR 17 73561073 73561073 single base substitution A C downstream_gene_variant SKCA-BR 17 73561073 73561073 single base substitution A C intron_variant SKCA-BR 17 73561073 73561073 single base substitution A C upstream_gene_variant SKCA-BR 17 73561244 73561244 single base substitution C T downstream_gene_variant SKCA-BR 17 73561244 73561244 single base substitution C T intron_variant SKCA-BR 17 73561244 73561244 single base substitution C T upstream_gene_variant SKCA-BR 17 73561742 73561742 single base substitution C T downstream_gene_variant SKCA-BR 17 73561742 73561742 single base substitution C T intron_variant SKCA-BR 17 73561742 73561742 single base substitution C T upstream_gene_variant SKCA-BR 17 73566623 73566623 single base substitution C T downstream_gene_variant SKCA-BR 17 73566623 73566623 single base substitution C T intron_variant SKCA-BR 17 73566623 73566623 single base substitution C T upstream_gene_variant SKCA-BR 17 73567037 73567037 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 73567037 73567037 single base substitution G A downstream_gene_variant SKCA-BR 17 73567037 73567037 single base substitution G A exon_variant SKCA-BR 17 73567037 73567037 single base substitution G A missense_variant E678K 2032G>A SKCA-BR 17 73567037 73567037 single base substitution G A upstream_gene_variant SKCA-BR 17 73567398 73567398 single base substitution C T downstream_gene_variant SKCA-BR 17 73567398 73567398 single base substitution C T intron_variant SKCA-BR 17 73567398 73567398 single base substitution C T upstream_gene_variant SKCA-BR 17 73567535 73567535 single base substitution T G downstream_gene_variant SKCA-BR 17 73567535 73567535 single base substitution T G exon_variant SKCA-BR 17 73567535 73567535 single base substitution T G intron_variant SKCA-BR 17 73567535 73567535 single base substitution T G upstream_gene_variant SKCA-BR 17 73568659 73568659 single base substitution T A downstream_gene_variant SKCA-BR 17 73568659 73568659 single base substitution T A intron_variant SKCA-BR 17 73568659 73568659 single base substitution T A upstream_gene_variant SKCA-BR 17 73568725 73568725 single base substitution G A downstream_gene_variant SKCA-BR 17 73568725 73568725 single base substitution G A intron_variant SKCA-BR 17 73568725 73568725 single base substitution G A upstream_gene_variant SKCA-BR 17 73569338 73569338 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 73569338 73569338 single base substitution G A downstream_gene_variant SKCA-BR 17 73569338 73569338 single base substitution G A exon_variant SKCA-BR 17 73569338 73569338 single base substitution G A missense_variant V902I 2704G>A SKCA-BR 17 73569338 73569338 single base substitution G A upstream_gene_variant SKCA-BR 17 73570386 73570386 single base substitution A G downstream_gene_variant SKCA-BR 17 73570386 73570386 single base substitution A G exon_variant SKCA-BR 17 73570386 73570386 single base substitution A G intron_variant SKCA-BR 17 73571617 73571617 single base substitution C T downstream_gene_variant SKCA-BR 17 73571618 73571618 single base substitution C T downstream_gene_variant SKCA-BR 17 73572219 73572219 single base substitution G A downstream_gene_variant SKCA-BR 17 73572502 73572502 single base substitution G A downstream_gene_variant SKCA-BR 17 73575378 73575378 single base substitution G A downstream_gene_variant SKCM-US 17 73517849 73517849 single base substitution C T upstream_gene_variant SKCM-US 17 73518163 73518163 single base substitution C T upstream_gene_variant SKCM-US 17 73519416 73519416 single base substitution G A upstream_gene_variant SKCM-US 17 73520462 73520462 single base substitution A G upstream_gene_variant SKCM-US 17 73539582 73539582 insertion of <=200bp - GT frameshift_variant K25K? SKCM-US 17 73539582 73539582 insertion of <=200bp - GT upstream_gene_variant SKCM-US 17 73539582 73539582 single base substitution G A splice_region_variant SKCM-US 17 73539582 73539582 single base substitution G A upstream_gene_variant SKCM-US 17 73552144 73552144 single base substitution C T synonymous_variant F31F 93C>T SKCM-US 17 73552144 73552144 single base substitution C T synonymous_variant F32F 96C>T SKCM-US 17 73552144 73552144 single base substitution C T upstream_gene_variant SKCM-US 17 73554278 73554278 single base substitution G A downstream_gene_variant SKCM-US 17 73554278 73554278 single base substitution G A exon_variant SKCM-US 17 73554278 73554278 single base substitution G A synonymous_variant E72E 216G>A SKCM-US 17 73554278 73554278 single base substitution G A synonymous_variant E73E 219G>A SKCM-US 17 73554278 73554278 single base substitution G A upstream_gene_variant SKCM-US 17 73554625 73554625 single base substitution C T downstream_gene_variant SKCM-US 17 73554625 73554625 single base substitution C T exon_variant SKCM-US 17 73554625 73554625 single base substitution C T synonymous_variant S96S 288C>T SKCM-US 17 73554625 73554625 single base substitution C T synonymous_variant S97S 291C>T SKCM-US 17 73554625 73554625 single base substitution C T upstream_gene_variant SKCM-US 17 73555366 73555366 single base substitution C T downstream_gene_variant SKCM-US 17 73555366 73555366 single base substitution C T exon_variant SKCM-US 17 73555366 73555366 single base substitution C T synonymous_variant V135V 405C>T SKCM-US 17 73555366 73555366 single base substitution C T synonymous_variant V136V 408C>T SKCM-US 17 73555366 73555366 single base substitution C T upstream_gene_variant SKCM-US 17 73555367 73555367 single base substitution C T downstream_gene_variant SKCM-US 17 73555367 73555367 single base substitution C T exon_variant SKCM-US 17 73555367 73555367 single base substitution C T synonymous_variant L136L 406C>T SKCM-US 17 73555367 73555367 single base substitution C T synonymous_variant L137L 409C>T SKCM-US 17 73555367 73555367 single base substitution C T upstream_gene_variant SKCM-US 17 73559139 73559139 single base substitution G A downstream_gene_variant SKCM-US 17 73559139 73559139 single base substitution G A exon_variant SKCM-US 17 73559139 73559139 single base substitution G A synonymous_variant V191V 573G>A SKCM-US 17 73559139 73559139 single base substitution G A upstream_gene_variant SKCM-US 17 73559842 73559842 single base substitution C T downstream_gene_variant SKCM-US 17 73559842 73559842 single base substitution C T exon_variant SKCM-US 17 73559842 73559842 single base substitution C T missense_variant P279L 836C>T SKCM-US 17 73559842 73559842 single base substitution C T upstream_gene_variant SKCM-US 17 73559867 73559867 single base substitution C T downstream_gene_variant SKCM-US 17 73559867 73559867 single base substitution C T exon_variant SKCM-US 17 73559867 73559867 single base substitution C T synonymous_variant L287L 861C>T SKCM-US 17 73559867 73559867 single base substitution C T upstream_gene_variant SKCM-US 17 73559887 73559887 single base substitution G A downstream_gene_variant SKCM-US 17 73559887 73559887 single base substitution G A missense_variant G294E 881G>A SKCM-US 17 73559887 73559887 single base substitution G A splice_region_variant SKCM-US 17 73559887 73559887 single base substitution G A upstream_gene_variant SKCM-US 17 73564710 73564710 single base substitution C T downstream_gene_variant SKCM-US 17 73564710 73564710 single base substitution C T exon_variant SKCM-US 17 73564710 73564710 single base substitution C T missense_variant P397L 1190C>T SKCM-US 17 73564710 73564710 single base substitution C T splice_region_variant SKCM-US 17 73564710 73564710 single base substitution C T upstream_gene_variant SKCM-US 17 73565087 73565087 single base substitution G A 3_prime_UTR_variant SKCM-US 17 73565087 73565087 single base substitution G A downstream_gene_variant SKCM-US 17 73565087 73565087 single base substitution G A exon_variant SKCM-US 17 73565087 73565087 single base substitution G A missense_variant D451N 1351G>A SKCM-US 17 73565087 73565087 single base substitution G A upstream_gene_variant SKCM-US 17 73565333 73565333 single base substitution C T 3_prime_UTR_variant SKCM-US 17 73565333 73565333 single base substitution C T downstream_gene_variant SKCM-US 17 73565333 73565333 single base substitution C T exon_variant SKCM-US 17 73565333 73565333 single base substitution C T missense_variant P503L 1508C>T SKCM-US 17 73565333 73565333 single base substitution C T upstream_gene_variant SKCM-US 17 73566171 73566171 single base substitution C T 3_prime_UTR_variant SKCM-US 17 73566171 73566171 single base substitution C T exon_variant SKCM-US 17 73566171 73566171 single base substitution C T missense_variant P570L 1709C>T SKCM-US 17 73566171 73566171 single base substitution C T upstream_gene_variant SKCM-US 17 73566202 73566202 single base substitution C T 3_prime_UTR_variant SKCM-US 17 73566202 73566202 single base substitution C T exon_variant SKCM-US 17 73566202 73566202 single base substitution C T synonymous_variant F580F 1740C>T SKCM-US 17 73566202 73566202 single base substitution C T upstream_gene_variant SKCM-US 17 73566310 73566310 single base substitution C T 3_prime_UTR_variant SKCM-US 17 73566310 73566310 single base substitution C T exon_variant SKCM-US 17 73566310 73566310 single base substitution C T synonymous_variant H616H 1848C>T SKCM-US 17 73566310 73566310 single base substitution C T upstream_gene_variant SKCM-US 17 73567066 73567066 single base substitution C T 3_prime_UTR_variant SKCM-US 17 73567066 73567066 single base substitution C T downstream_gene_variant SKCM-US 17 73567066 73567066 single base substitution C T exon_variant SKCM-US 17 73567066 73567066 single base substitution C T synonymous_variant G687G 2061C>T SKCM-US 17 73567066 73567066 single base substitution C T upstream_gene_variant SKCM-US 17 73567118 73567118 single base substitution G A 3_prime_UTR_variant SKCM-US 17 73567118 73567118 single base substitution G A downstream_gene_variant SKCM-US 17 73567118 73567118 single base substitution G A exon_variant SKCM-US 17 73567118 73567118 single base substitution G A missense_variant A705T 2113G>A SKCM-US 17 73567118 73567118 single base substitution G A upstream_gene_variant SKCM-US 17 73567141 73567141 single base substitution C T 3_prime_UTR_variant SKCM-US 17 73567141 73567141 single base substitution C T downstream_gene_variant SKCM-US 17 73567141 73567141 single base substitution C T exon_variant SKCM-US 17 73567141 73567141 single base substitution C T synonymous_variant F712F 2136C>T SKCM-US 17 73567141 73567141 single base substitution C T upstream_gene_variant SKCM-US 17 73567144 73567144 single base substitution C T 3_prime_UTR_variant SKCM-US 17 73567144 73567144 single base substitution C T downstream_gene_variant SKCM-US 17 73567144 73567144 single base substitution C T exon_variant SKCM-US 17 73567144 73567144 single base substitution C T synonymous_variant V713V 2139C>T SKCM-US 17 73567144 73567144 single base substitution C T upstream_gene_variant SKCM-US 17 73567827 73567827 single base substitution C T 3_prime_UTR_variant SKCM-US 17 73567827 73567827 single base substitution C T downstream_gene_variant SKCM-US 17 73567827 73567827 single base substitution C T exon_variant SKCM-US 17 73567827 73567827 single base substitution C T synonymous_variant A752A 2256C>T SKCM-US 17 73567827 73567827 single base substitution C T upstream_gene_variant SKCM-US 17 73567847 73567847 single base substitution C T 3_prime_UTR_variant SKCM-US 17 73567847 73567847 single base substitution C T downstream_gene_variant SKCM-US 17 73567847 73567847 single base substitution C T exon_variant SKCM-US 17 73567847 73567847 single base substitution C T missense_variant P759L 2276C>T SKCM-US 17 73567847 73567847 single base substitution C T upstream_gene_variant SKCM-US 17 73568065 73568065 single base substitution G A 3_prime_UTR_variant SKCM-US 17 73568065 73568065 single base substitution G A downstream_gene_variant SKCM-US 17 73568065 73568065 single base substitution G A exon_variant SKCM-US 17 73568065 73568065 single base substitution G A missense_variant E794K 2380G>A SKCM-US 17 73568065 73568065 single base substitution G A upstream_gene_variant SKCM-US 17 73569096 73569096 single base substitution T G downstream_gene_variant SKCM-US 17 73569096 73569096 single base substitution T G missense_variant V821G 2462T>G SKCM-US 17 73569096 73569096 single base substitution T G splice_region_variant SKCM-US 17 73569096 73569096 single base substitution T G upstream_gene_variant SKCM-US 17 73569208 73569208 single base substitution C T 3_prime_UTR_variant SKCM-US 17 73569208 73569208 single base substitution C T downstream_gene_variant SKCM-US 17 73569208 73569208 single base substitution C T exon_variant SKCM-US 17 73569208 73569208 single base substitution C T synonymous_variant D858D 2574C>T SKCM-US 17 73569208 73569208 single base substitution C T upstream_gene_variant SKCM-US 17 73569259 73569259 single base substitution G A 3_prime_UTR_variant SKCM-US 17 73569259 73569259 single base substitution G A downstream_gene_variant SKCM-US 17 73569259 73569259 single base substitution G A exon_variant SKCM-US 17 73569259 73569259 single base substitution G A synonymous_variant V875V 2625G>A SKCM-US 17 73569259 73569259 single base substitution G A upstream_gene_variant SKCM-US 17 73569264 73569264 single base substitution C T 3_prime_UTR_variant SKCM-US 17 73569264 73569264 single base substitution C T downstream_gene_variant SKCM-US 17 73569264 73569264 single base substitution C T exon_variant SKCM-US 17 73569264 73569264 single base substitution C T missense_variant S877L 2630C>T SKCM-US 17 73569264 73569264 single base substitution C T upstream_gene_variant SKCM-US 17 73569281 73569281 single base substitution C T 3_prime_UTR_variant SKCM-US 17 73569281 73569281 single base substitution C T downstream_gene_variant SKCM-US 17 73569281 73569281 single base substitution C T exon_variant SKCM-US 17 73569281 73569281 single base substitution C T missense_variant P883S 2647C>T SKCM-US 17 73569281 73569281 single base substitution C T upstream_gene_variant SKCM-US 17 73569287 73569287 single base substitution G A 3_prime_UTR_variant SKCM-US 17 73569287 73569287 single base substitution G A downstream_gene_variant SKCM-US 17 73569287 73569287 single base substitution G A exon_variant SKCM-US 17 73569287 73569287 single base substitution G A missense_variant V885M 2653G>A SKCM-US 17 73569287 73569287 single base substitution G A upstream_gene_variant SKCM-US 17 73569340 73569340 single base substitution C T 3_prime_UTR_variant SKCM-US 17 73569340 73569340 single base substitution C T downstream_gene_variant SKCM-US 17 73569340 73569340 single base substitution C T exon_variant SKCM-US 17 73569340 73569340 single base substitution C T synonymous_variant V902V 2706C>T SKCM-US 17 73569340 73569340 single base substitution C T upstream_gene_variant SKCM-US 17 73569591 73569591 single base substitution G A 3_prime_UTR_variant SKCM-US 17 73569591 73569591 single base substitution G A downstream_gene_variant SKCM-US 17 73569591 73569591 single base substitution G A exon_variant SKCM-US 17 73569591 73569591 single base substitution G A missense_variant E919K 2755G>A SKCM-US 17 73569591 73569591 single base substitution G A upstream_gene_variant SKCM-US 17 73569692 73569692 single base substitution G A 3_prime_UTR_variant SKCM-US 17 73569692 73569692 single base substitution G A downstream_gene_variant SKCM-US 17 73569692 73569692 single base substitution G A exon_variant SKCM-US 17 73569692 73569692 single base substitution G A synonymous_variant K952K 2856G>A SKCM-US 17 73569692 73569692 single base substitution G A upstream_gene_variant SKCM-US 17 73569700 73569700 insertion of <=200bp - G 3_prime_UTR_variant SKCM-US 17 73569700 73569700 insertion of <=200bp - G downstream_gene_variant SKCM-US 17 73569700 73569700 insertion of <=200bp - G exon_variant SKCM-US 17 73569700 73569700 insertion of <=200bp - G frameshift_variant P955R? SKCM-US 17 73569700 73569700 insertion of <=200bp - G upstream_gene_variant SKCM-US 17 73569700 73569700 single base substitution C G 3_prime_UTR_variant SKCM-US 17 73569700 73569700 single base substitution C G downstream_gene_variant SKCM-US 17 73569700 73569700 single base substitution C G exon_variant SKCM-US 17 73569700 73569700 single base substitution C G missense_variant P955R 2864C>G SKCM-US 17 73569700 73569700 single base substitution C G upstream_gene_variant STAD-US 17 73518266 73518266 single base substitution C T upstream_gene_variant STAD-US 17 73539557 73539557 single base substitution A G missense_variant K17R 50A>G STAD-US 17 73539557 73539557 single base substitution A G upstream_gene_variant STAD-US 17 73554653 73554653 single base substitution G T downstream_gene_variant STAD-US 17 73554653 73554653 single base substitution G T exon_variant STAD-US 17 73554653 73554653 single base substitution G T missense_variant G106C 316G>T STAD-US 17 73554653 73554653 single base substitution G T missense_variant G107C 319G>T STAD-US 17 73554653 73554653 single base substitution G T synonymous_variant ?106 STAD-US 17 73554653 73554653 single base substitution G T upstream_gene_variant STAD-US 17 73555400 73555400 single base substitution G A downstream_gene_variant STAD-US 17 73555400 73555400 single base substitution G A exon_variant STAD-US 17 73555400 73555400 single base substitution G A missense_variant G147S 439G>A STAD-US 17 73555400 73555400 single base substitution G A missense_variant G148S 442G>A STAD-US 17 73555400 73555400 single base substitution G A upstream_gene_variant STAD-US 17 73560538 73560538 single base substitution C A downstream_gene_variant STAD-US 17 73560538 73560538 single base substitution C A exon_variant STAD-US 17 73560538 73560538 single base substitution C A missense_variant T329N 986C>A STAD-US 17 73560538 73560538 single base substitution C A upstream_gene_variant STAD-US 17 73564738 73564738 single base substitution C A downstream_gene_variant STAD-US 17 73564738 73564738 single base substitution C A exon_variant STAD-US 17 73564738 73564738 single base substitution C A synonymous_variant A406A 1218C>A STAD-US 17 73564738 73564738 single base substitution C A upstream_gene_variant STAD-US 17 73565074 73565074 single base substitution G A 3_prime_UTR_variant STAD-US 17 73565074 73565074 single base substitution G A downstream_gene_variant STAD-US 17 73565074 73565074 single base substitution G A exon_variant STAD-US 17 73565074 73565074 single base substitution G A synonymous_variant T446T 1338G>A STAD-US 17 73565074 73565074 single base substitution G A upstream_gene_variant STAD-US 17 73565191 73565191 single base substitution C T 3_prime_UTR_variant STAD-US 17 73565191 73565191 single base substitution C T downstream_gene_variant STAD-US 17 73565191 73565191 single base substitution C T exon_variant STAD-US 17 73565191 73565191 single base substitution C T synonymous_variant D485D 1455C>T STAD-US 17 73565191 73565191 single base substitution C T upstream_gene_variant STAD-US 17 73565397 73565397 single base substitution G T 3_prime_UTR_variant STAD-US 17 73565397 73565397 single base substitution G T downstream_gene_variant STAD-US 17 73565397 73565397 single base substitution G T exon_variant STAD-US 17 73565397 73565397 single base substitution G T synonymous_variant T524T 1572G>T STAD-US 17 73565397 73565397 single base substitution G T upstream_gene_variant STAD-US 17 73566223 73566223 single base substitution C T 3_prime_UTR_variant STAD-US 17 73566223 73566223 single base substitution C T exon_variant STAD-US 17 73566223 73566223 single base substitution C T synonymous_variant P587P 1761C>T STAD-US 17 73566223 73566223 single base substitution C T upstream_gene_variant STAD-US 17 73566553 73566553 single base substitution C T 3_prime_UTR_variant STAD-US 17 73566553 73566553 single base substitution C T downstream_gene_variant STAD-US 17 73566553 73566553 single base substitution C T exon_variant STAD-US 17 73566553 73566553 single base substitution C T missense_variant R667W 1999C>T STAD-US 17 73566553 73566553 single base substitution C T upstream_gene_variant STAD-US 17 73567789 73567789 single base substitution G T 3_prime_UTR_variant STAD-US 17 73567789 73567789 single base substitution G T downstream_gene_variant STAD-US 17 73567789 73567789 single base substitution G T exon_variant STAD-US 17 73567789 73567789 single base substitution G T missense_variant G740C 2218G>T STAD-US 17 73567789 73567789 single base substitution G T upstream_gene_variant STAD-US 17 73568034 73568034 single base substitution C T 3_prime_UTR_variant STAD-US 17 73568034 73568034 single base substitution C T downstream_gene_variant STAD-US 17 73568034 73568034 single base substitution C T exon_variant STAD-US 17 73568034 73568034 single base substitution C T synonymous_variant D783D 2349C>T STAD-US 17 73568034 73568034 single base substitution C T upstream_gene_variant THCA-SA 17 73565171 73565171 single base substitution T C 3_prime_UTR_variant THCA-SA 17 73565171 73565171 single base substitution T C downstream_gene_variant THCA-SA 17 73565171 73565171 single base substitution T C exon_variant THCA-SA 17 73565171 73565171 single base substitution T C missense_variant F479L 1435T>C THCA-SA 17 73565171 73565171 single base substitution T C upstream_gene_variant THCA-SA 17 73566561 73566561 single base substitution G A 3_prime_UTR_variant THCA-SA 17 73566561 73566561 single base substitution G A downstream_gene_variant THCA-SA 17 73566561 73566561 single base substitution G A exon_variant THCA-SA 17 73566561 73566561 single base substitution G A synonymous_variant P669P 2007G>A THCA-SA 17 73566561 73566561 single base substitution G A upstream_gene_variant THCA-SA 17 73567846 73567846 single base substitution C T 3_prime_UTR_variant THCA-SA 17 73567846 73567846 single base substitution C T downstream_gene_variant THCA-SA 17 73567846 73567846 single base substitution C T exon_variant THCA-SA 17 73567846 73567846 single base substitution C T missense_variant P759S 2275C>T THCA-SA 17 73567846 73567846 single base substitution C T upstream_gene_variant THCA-SA 17 73568055 73568055 single base substitution C T 3_prime_UTR_variant THCA-SA 17 73568055 73568055 single base substitution C T downstream_gene_variant THCA-SA 17 73568055 73568055 single base substitution C T exon_variant THCA-SA 17 73568055 73568055 single base substitution C T synonymous_variant P790P 2370C>T THCA-SA 17 73568055 73568055 single base substitution C T upstream_gene_variant THCA-SA 17 73570718 73570718 single base substitution C G 3_prime_UTR_variant THCA-SA 17 73570718 73570718 single base substitution C G downstream_gene_variant THCA-SA 17 73570718 73570718 single base substitution C G exon_variant THCA-SA 17 73570718 73570718 single base substitution C G missense_variant P994R 2981C>G THCA-SA 17 73570718 73570718 single base substitution C G synonymous_variant A1008A 3024C>G UCEC-US 17 73518243 73518243 single base substitution C T upstream_gene_variant UCEC-US 17 73518349 73518349 single base substitution G A upstream_gene_variant UCEC-US 17 73520522 73520522 single base substitution G A upstream_gene_variant UCEC-US 17 73552193 73552193 single base substitution G A downstream_gene_variant UCEC-US 17 73552193 73552193 single base substitution G A missense_variant A48T 142G>A UCEC-US 17 73552193 73552193 single base substitution G A missense_variant A49T 145G>A UCEC-US 17 73552193 73552193 single base substitution G A upstream_gene_variant UCEC-US 17 73555445 73555445 single base substitution C T downstream_gene_variant UCEC-US 17 73555445 73555445 single base substitution C T exon_variant UCEC-US 17 73555445 73555445 single base substitution C T missense_variant R162C 484C>T UCEC-US 17 73555445 73555445 single base substitution C T upstream_gene_variant UCEC-US 17 73564653 73564653 single base substitution A G downstream_gene_variant UCEC-US 17 73564653 73564653 single base substitution A G exon_variant UCEC-US 17 73564653 73564653 single base substitution A G intron_variant UCEC-US 17 73564653 73564653 single base substitution A G missense_variant Y378C 1133A>G UCEC-US 17 73564653 73564653 single base substitution A G upstream_gene_variant UCEC-US 17 73567105 73567105 single base substitution C T 3_prime_UTR_variant UCEC-US 17 73567105 73567105 single base substitution C T downstream_gene_variant UCEC-US 17 73567105 73567105 single base substitution C T exon_variant UCEC-US 17 73567105 73567105 single base substitution C T synonymous_variant I700I 2100C>T UCEC-US 17 73567105 73567105 single base substitution C T upstream_gene_variant UCEC-US 17 73567858 73567858 single base substitution G T 3_prime_UTR_variant UCEC-US 17 73567858 73567858 single base substitution G T downstream_gene_variant UCEC-US 17 73567858 73567858 single base substitution G T exon_variant UCEC-US 17 73567858 73567858 single base substitution G T stop_gained E763* 2287G>T UCEC-US 17 73567858 73567858 single base substitution G T upstream_gene_variant UCEC-US 17 73569164 73569164 single base substitution C T 3_prime_UTR_variant UCEC-US 17 73569164 73569164 single base substitution C T downstream_gene_variant UCEC-US 17 73569164 73569164 single base substitution C T exon_variant UCEC-US 17 73569164 73569164 single base substitution C T missense_variant R844W 2530C>T UCEC-US 17 73569164 73569164 single base substitution C T upstream_gene_variant UCEC-US 17 73570746 73570746 single base substitution G T 3_prime_UTR_variant UCEC-US 17 73570746 73570746 single base substitution G T downstream_gene_variant UCEC-US 17 73570746 73570746 single base substitution G T exon_variant UCEC-US 17 73570746 73570746 single base substitution G T stop_gained G1018* 3052G>T UCEC-US 17 73570746 73570746 single base substitution G T synonymous_variant A1003A 3009G>T UCEC-US 17 73570979 73570979 single base substitution G A 3_prime_UTR_variant UCEC-US 17 73570979 73570979 single base substitution G A downstream_gene_variant UCEC-US 17 73570979 73570979 single base substitution G A exon_variant UCEC-US 17 73570979 73570979 single base substitution G A missense_variant A1014T 3040G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand WSU-HN8 COSM4590936 c.1681C>A p.H561N Substitution - Missense 17:75570062-75570062 + CHEWS013 COSM4580108 c.231G>A p.T77T Substitution - coding silent 17:75558212-75558212 + pfg068T COSM4757429 c.284A>G p.N95S Substitution - Missense 17:75558540-75558540 + BICR_22 COSM4603272 c.2864_2865insG p.S956fs*11 Insertion - Frameshift 17:75573619-75573620 + TCGA-BS-A0UV-01 COSM984384 c.484C>T p.R162C Substitution - Missense 17:75559364-75559364 + 414 COSM4431259 c.2137G>A p.V713I Substitution - Missense 17:75571061-75571061 + TCGA-CG-5723-01 COSM4069583 c.439G>A p.G147S Substitution - Missense 17:75559319-75559319 + TCGA-DR-A0ZM-01 COSM460229 c.76-1G>A p.? Unknown 17:75556045-75556045 + TCGA-06-0646-01 COSM3403213 c.513G>C p.S171S Substitution - coding silent 17:75559393-75559393 + TCGA-D3-A2J8-06 COSM3522173 c.2136C>T p.F712F Substitution - coding silent 17:75571060-75571060 + 587336 COSM1213451 c.1391G>A p.S464N Substitution - Missense 17:75569046-75569046 + TCGA-AA-3713-01 COSM437389 c.2275C>T p.P759S Substitution - Missense 17:75571765-75571765 + CSCC-40-T COSM4467855 c.1510C>T p.R504W Substitution - Missense 17:75569254-75569254 + TCGA-FW-A3R5-06 COSM3890405 c.288C>T p.S96S Substitution - coding silent 17:75558544-75558544 + TCGA-CM-5861-01 COSM1386010 c.2505G>T p.L835L Substitution - coding silent 17:75573058-75573058 + TCGA-EE-A3AG-06 COSM3522181 c.2625G>A p.V875V Substitution - coding silent 17:75573178-75573178 + TCGA-EE-A2GO-06 COSM3522165 c.1508C>T p.P503L Substitution - Missense 17:75569252-75569252 + TCGA-EE-A182-06 COSM3522169 c.1848C>T p.H616H Substitution - coding silent 17:75570229-75570229 + STC246 COSM5055769 c.2053C>T p.R685W Substitution - Missense 17:75570977-75570977 + CAL27 COSM2979253 c.2794C>T p.R932W Substitution - Missense 17:75573549-75573549 + YURTHE COSM1710783 c.835C>T p.P279S Substitution - Missense 17:75563760-75563760 + TCGA-DB-A64Q-01 COSM3970317 c.2968A>G p.I990V Substitution - Missense 17:75574467-75574467 + WSU-HN13 COSM4603272 c.2864_2865insG p.S956fs*11 Insertion - Frameshift 17:75573619-75573620 + KM12 COSM2979163 c.789C>T p.A263A Substitution - coding silent 17:75563426-75563426 + PTC-7C COSM3755846 c.134G>A p.R45H Substitution - Missense 17:75556104-75556104 + BCM325T COSM336082 c.2550C>T p.H850H Substitution - coding silent 17:75573103-75573103 + YURTHE COSM1710780 c.374C>T p.A125V Substitution - Missense 17:75559254-75559254 + UM-SCC-2 COSM4603272 c.2864_2865insG p.S956fs*11 Insertion - Frameshift 17:75573619-75573620 + ESO-2143 COSM1256528 c.2293G>A p.A765T Substitution - Missense 17:75571783-75571783 + HN_62421 COSM128387 c.861C>G p.L287L Substitution - coding silent 17:75563786-75563786 + TCGA-34-5927-01 COSM707235 c.1802G>A p.R601Q Substitution - Missense 17:75570183-75570183 + LUAD-S01357 COSM386849 c.2283G>T p.R761R Substitution - coding silent 17:75571773-75571773 + 46M COSM5588181 c.2877G>A p.R959R Substitution - coding silent 17:75573952-75573952 + TCGA-G2-A2ES-01 COSM460228 c.612C>T p.I204I Substitution - coding silent 17:75563097-75563097 + LC_S49 COSM1190920 c.1271delG p.G424fs*5 Deletion - Frameshift 17:75568788-75568788 + SK-MEL-28 COSM1680089 c.2677G>A p.E893K Substitution - Missense 17:75573230-75573230 + TCGA-GN-A26C-01 COSM3522171 c.2113G>A p.A705T Substitution - Missense 17:75571037-75571037 + CSCC-27-T COSM4500400 c.564C>T p.F188F Substitution - coding silent 17:75563049-75563049 + DLD1 COSM4623666 c.1070C>T p.A357V Substitution - Missense 17:75568509-75568509 + T3724 COSM4698174 c.2758C>T p.R920C Substitution - Missense 17:75573513-75573513 + 587350 COSM1213455 c.1279A>C p.S427R Substitution - Missense 17:75568796-75568796 + TCGA-34-5231-01 COSM707236 c.958G>A p.D320N Substitution - Missense 17:75564429-75564429 + TCGA-CG-4305-01 COSM4069586 c.986C>A p.T329N Substitution - Missense 17:75564457-75564457 + HCT116 COSM1680087 c.2146C>A p.L716M Substitution - Missense 17:75571070-75571070 + TCGA-22-5478-01 COSM707234 c.2657G>A p.R886H Substitution - Missense 17:75573210-75573210 + ME035T COSM227626 c.2965G>A p.E989K Substitution - Missense 17:75574464-75574464 + LIM1899 COSM4139822 c.1972C>T p.R658C Substitution - Missense 17:75570445-75570445 + TCGA-EE-A2MM-06 COSM3890402 c.93C>T p.F31F Substitution - coding silent 17:75556063-75556063 + CHC892T COSM4794959 c.2059G>A p.G687S Substitution - Missense 17:75570983-75570983 + GC_296T1-GC_296N COSM3691803 c.1816G>A p.G606S Substitution - Missense 17:75570197-75570197 + 2492721 COSM5722686 c.2140C>T p.R714W Substitution - Missense 17:75571064-75571064 + UM-SCC-47 COSM4603272 c.2864_2865insG p.S956fs*11 Insertion - Frameshift 17:75573619-75573620 + SCC-9 COSM4603272 c.2864_2865insG p.S956fs*11 Insertion - Frameshift 17:75573619-75573620 + CHOL02 COSM1743706 c.992G>T p.R331L Substitution - Missense 17:75564463-75564463 + SJRHB013 COSM4776503 c.870C>G p.T290T Substitution - coding silent 17:75563795-75563795 + 2492723 COSM5722686 c.2140C>T p.R714W Substitution - Missense 17:75571064-75571064 + 10-P8045 COSM3522189 c.2755G>A p.E919K Substitution - Missense 17:75573510-75573510 + YUWIA COSM5387294 c.178_179GG>AA p.G60K Substitution - Missense 17:75558159-75558160 + TCGA-IR-A3LH-01 COSM4832376 c.784G>A p.E262K Substitution - Missense 17:75563421-75563421 + TCGA-AA-3713-01 COSM984388 c.2530C>T p.R844W Substitution - Missense 17:75573083-75573083 + 1517_PT COSM5755133 c.2501A>G p.K834R Substitution - Missense 17:75573054-75573054 + TARGET-30-PARCRR COSM1285940 c.846G>A p.A282A Substitution - coding silent 17:75563771-75563771 + CN-AML-CR-46-Dx COSM437389 c.2275C>T p.P759S Substitution - Missense 17:75571765-75571765 + TCGA-ER-A194-01 COSM3522149 c.406C>T p.L136L Substitution - coding silent 17:75559286-75559286 + ORL-48 COSM4603272 c.2864_2865insG p.S956fs*11 Insertion - Frameshift 17:75573619-75573620 + TCGA-BR-8487-01 COSM4069591 c.1338G>A p.T446T Substitution - coding silent 17:75568993-75568993 + ESCC-237T COSM3937567 c.895A>G p.I299V Substitution - Missense 17:75564366-75564366 + NOKSI COSM4603272 c.2864_2865insG p.S956fs*11 Insertion - Frameshift 17:75573619-75573620 + J54_T COSM3958748 c.1834G>C p.G612R Substitution - Missense 17:75570215-75570215 + TCGA-FW-A3R5-06 COSM3890412 c.2139C>T p.V713V Substitution - coding silent 17:75571063-75571063 + LUAD-YINHD COSM349441 c.2322G>A p.A774A Substitution - coding silent 17:75571926-75571926 + TCGA-BS-A0TJ-01 COSM984389 c.3052G>T p.G1018* Substitution - Nonsense 17:75574665-75574665 + ME037T COSM227904 c.2749G>A p.E917K Substitution - Missense 17:75573504-75573504 + T3658 COSM4698164 c.1917A>G p.P639P Substitution - coding silent 17:75570390-75570390 + TCGA-29-1761-01 COSM1324855 c.151_157delACCCGTT p.T51fs*24 Deletion - Frameshift 17:75556121-75556127 + LIS07PT2 COSM1732404 c.124C>G p.P42A Substitution - Missense 17:75556094-75556094 + CSCC-31-T COSM4462474 c.1248C>T p.S416S Substitution - coding silent 17:75568687-75568687 + T1154 COSM4698162 c.1645C>T p.L549L Substitution - coding silent 17:75570026-75570026 + CSCC-56-T COSM4534955 c.213G>A p.Q71Q Substitution - coding silent 17:75558194-75558194 + TCGA-FD-A3N5-01 COSM1303348 c.2568C>T p.A856A Substitution - coding silent 17:75573121-75573121 + D01 COSM3522167 c.1709C>T p.P570L Substitution - Missense 17:75570090-75570090 + LUAD-RT-S01866 COSM385143 c.1670G>T p.R557L Substitution - Missense 17:75570051-75570051 + 2246934 COSM4413467 c.3000C>T p.S1000S Substitution - coding silent 17:75574613-75574613 + TCGA-LP-A4AV-01 COSM4825392 c.1976G>A p.R659Q Substitution - Missense 17:75570449-75570449 + CSCC-31-T COSM4509750 c.816C>T p.L272L Substitution - coding silent 17:75563453-75563453 + CAL33 COSM4603272 c.2864_2865insG p.S956fs*11 Insertion - Frameshift 17:75573619-75573620 + CHC892T COSM4794959 c.2059G>A p.G687S Substitution - Missense 17:75570983-75570983 + 93VU147T COSM4603272 c.2864_2865insG p.S956fs*11 Insertion - Frameshift 17:75573619-75573620 + PD4103a COSM162174 c.517G>A p.A173T Substitution - Missense 17:75559397-75559397 + 9096_T COSM5039564 c.2254G>A p.A752T Substitution - Missense 17:75571744-75571744 + HCT-116 COSM1680087 c.2146C>A p.L716M Substitution - Missense 17:75571070-75571070 + AOCS-144-1-3 COSM4139819 c.411A>G p.P137P Substitution - coding silent 17:75559291-75559291 + TCGA-AO-A03N-01 COSM437386 c.1176C>T p.H392H Substitution - coding silent 17:75568615-75568615 + BHY COSM4603272 c.2864_2865insG p.S956fs*11 Insertion - Frameshift 17:75573619-75573620 + 2466116 COSM2979200 c.1471C>T p.R491C Substitution - Missense 17:75569126-75569126 + BK0026 COSM4186565 c.1865T>G p.V622G Substitution - Missense 17:75570246-75570246 + B54-Tumor COSM3932729 c.1029T>C p.P343P Substitution - coding silent 17:75564500-75564500 + TCGA-G2-A2ES-01 COSM1303346 c.749C>G p.S250C Substitution - Missense 17:75563386-75563386 + TCGA-HU-A4GT-01 COSM4069601 c.2218G>T p.G740C Substitution - Missense 17:75571708-75571708 + TCGA-AG-3999-01 COSM258890 c.2830C>T p.R944C Substitution - Missense 17:75573585-75573585 + WSU-HN30 COSM4603272 c.2864_2865insG p.S956fs*11 Insertion - Frameshift 17:75573619-75573620 + TCGA-FW-A3R5-06 COSM3890408 c.1740C>T p.F580F Substitution - coding silent 17:75570121-75570121 + S02245 COSM5701219 c.2865_2866insG p.S956fs*11 Insertion - Frameshift 17:75573620-75573621 + CHC322T COSM3755852 c.2370C>T p.P790P Substitution - coding silent 17:75571974-75571974 + PT35 COSM5913904 c.2726-8C>T p.? Unknown 17:75573473-75573473 + I2L-P26-Tumor-Organoid COSM5364286 c.514G>C p.D172H Substitution - Missense 17:75559394-75559394 + CAL33 COSM4590936 c.1681C>A p.H561N Substitution - Missense 17:75570062-75570062 + TCGA-EE-A3AC-06 COSM3522173 c.2136C>T p.F712F Substitution - coding silent 17:75571060-75571060 + TC71 COSM4580117 c.2610G>A p.L870L Substitution - coding silent 17:75573163-75573163 + TCGA-BR-7707-01 COSM4069603 c.2349C>T p.D783D Substitution - coding silent 17:75571953-75571953 + BD173T COSM5500196 c.2605A>T p.N869Y Substitution - Missense 17:75573158-75573158 + I2L-P19Tb-Tumor-Biopsy COSM5363827 c.1254+7_1254+12delCTGGCC p.? Unknown 17:75568700-75568705 + T25 COSM3755846 c.134G>A p.R45H Substitution - Missense 17:75556104-75556104 + UM-SCC-2 COSM4590936 c.1681C>A p.H561N Substitution - Missense 17:75570062-75570062 + 93VU147T COSM4590936 c.1681C>A p.H561N Substitution - Missense 17:75570062-75570062 + TCGA-EE-A2MR-06 COSM3522187 c.2706C>T p.V902V Substitution - coding silent 17:75573259-75573259 + WSU-HN12 COSM4603272 c.2864_2865insG p.S956fs*11 Insertion - Frameshift 17:75573619-75573620 + SJHGG052_A COSM4969712 c.38G>A p.R13Q Substitution - Missense 17:75543464-75543464 + LUAD-CHTN-MAD06-00668 COSM359137 c.725G>T p.G242V Substitution - Missense 17:75563362-75563362 + WSU-HN8 COSM4603272 c.2864_2865insG p.S956fs*11 Insertion - Frameshift 17:75573619-75573620 + TCGA-Q1-A73O-01 COSM4836317 c.954C>G p.I318M Substitution - Missense 17:75564425-75564425 + 587338 COSM1213453 c.1219G>A p.A407T Substitution - Missense 17:75568658-75568658 + T3498 COSM4698172 c.2725G>T p.G909C Substitution - Missense 17:75573278-75573278 + TCGA-BR-8363-01 COSM4069597 c.1761C>T p.P587P Substitution - coding silent 17:75570142-75570142 + TCGA-BP-4985-01 COSM473365 c.1342C>T p.R448W Substitution - Missense 17:75568997-75568997 + PCSI_0302_Pa_P_526 COSM4808460 c.2182C>T p.R728W Substitution - Missense 17:75571672-75571672 + TCGA-BR-8078-01 COSM4069589 c.1218C>A p.A406A Substitution - coding silent 17:75568657-75568657 + TCGA-D9-A4Z3-01 COSM3522167 c.1709C>T p.P570L Substitution - Missense 17:75570090-75570090 + 2492720 COSM5722686 c.2140C>T p.R714W Substitution - Missense 17:75571064-75571064 + SNUH_G11_S1 COSM3680554 c.1763C>G p.P588R Substitution - Missense 17:75570144-75570144 + CAL27 COSM4603272 c.2864_2865insG p.S956fs*11 Insertion - Frameshift 17:75573619-75573620 + 08-P462 COSM4580119 c.2795G>A p.R932Q Substitution - Missense 17:75573550-75573550 + TCGA-ER-A19L-06 COSM3522175 c.2256C>T p.A752A Substitution - coding silent 17:75571746-75571746 + CHEWS034 COSM4580113 c.1425_1427delCAA p.N476delN Deletion - In frame 17:75569080-75569082 + PDA_008 COSM4998302 c.1435T>C p.F479L Substitution - Missense 17:75569090-75569090 + 1517_CLM COSM5755133 c.2501A>G p.K834R Substitution - Missense 17:75573054-75573054 + LS180 COSM2979154 c.660C>T p.G220G Substitution - coding silent 17:75563145-75563145 + Ad3 COSM4440931 c.2675G>A p.R892Q Substitution - Missense 17:75573228-75573228 + SKCO-1 COSM2979196 c.1412C>T p.T471I Substitution - Missense 17:75569067-75569067 + PC-9BRc1 COSM1685075 c.1837C>T p.L613F Substitution - Missense 17:75570218-75570218 + DN110CD COSM3403213 c.513G>C p.S171S Substitution - coding silent 17:75559393-75559393 + TCGA-FW-A3R5-06 COSM3890410 c.2061C>T p.G687G Substitution - coding silent 17:75570985-75570985 + TCGA-B5-A0JR-01 COSM984388 c.2530C>T p.R844W Substitution - Missense 17:75573083-75573083 + TCGA-J9-A52C-01 COSM4877184 c.825C>T p.Y275Y Substitution - coding silent 17:75563462-75563462 + 49M COSM5591655 c.636C>T p.L212L Substitution - coding silent 17:75563121-75563121 + 2492722 COSM5722686 c.2140C>T p.R714W Substitution - Missense 17:75571064-75571064 + 8069329 COSM3773275 c.371+3A>G p.? Unknown 17:75558630-75558630 + cSCCP2 COSM137671 c.526C>T p.Q176* Substitution - Nonsense 17:75559406-75559406 + TCGA-A6-6140-01 COSM3691803 c.1816G>A p.G606S Substitution - Missense 17:75570197-75570197 + Pat_41_B COSM5853483 c.1784C>T p.A595V Substitution - Missense 17:75570165-75570165 + STC243 COSM4603272 c.2864_2865insG p.S956fs*11 Insertion - Frameshift 17:75573619-75573620 + CHC892T COSM4797215 c.2535G>A p.R845R Substitution - coding silent 17:75573088-75573088 + 202_T COSM3958743 c.836C>G p.P279R Substitution - Missense 17:75563761-75563761 + YUKAT COSM5387297 c.662G>A p.S221N Substitution - Missense 17:75563147-75563147 + AOCS-095-1-4 COSM4139822 c.1972C>T p.R658C Substitution - Missense 17:75570445-75570445 + TCGA-CM-5861-01 COSM1386002 c.694-1G>A p.? Unknown 17:75563330-75563330 + TCGA-AM-5821-01 COSM3755846 c.134G>A p.R45H Substitution - Missense 17:75556104-75556104 + CHC892T COSM4797215 c.2535G>A p.R845R Substitution - coding silent 17:75573088-75573088 + LUAD-E01317 COSM403717 c.1688G>A p.R563H Substitution - Missense 17:75570069-75570069 + TCGA-AM-5821-01 COSM3755852 c.2370C>T p.P790P Substitution - coding silent 17:75571974-75571974 + T263 COSM4745558 c.1892_1893GT>AG p.S631K Substitution - Missense 17:75570365-75570366 + TCGA-DA-A1I2-06 COSM3890420 c.2864C>G p.P955R Substitution - Missense 17:75573619-75573619 + 431 COSM4433429 c.534G>T p.L178F Substitution - Missense 17:75563019-75563019 + GHE1437 COSM3890420 c.2864C>G p.P955R Substitution - Missense 17:75573619-75573619 + NB1488 COSM5703142 c.2546C>A p.A849D Substitution - Missense 17:75573099-75573099 + B37 COSM1750310 c.753C>T p.D251D Substitution - coding silent 17:75563390-75563390 + 2734_T COSM3958740 c.114C>T p.L38L Substitution - coding silent 17:75556084-75556084 + TCGA-A6-6653-01 COSM1386006 c.1855C>T p.R619W Substitution - Missense 17:75570236-75570236 + B56-Tumor COSM3932726 c.746A>C p.H249P Substitution - Missense 17:75563383-75563383 + C086 COSM5533851 c.681C>T p.F227F Substitution - coding silent 17:75563166-75563166 + OSCC-GB_01400111 COSM5955176 c.1072G>A p.E358K Substitution - Missense 17:75568511-75568511 + TCGA-HU-A4GN-01 COSM4069593 c.1455C>T p.D485D Substitution - coding silent 17:75569110-75569110 + TCGA-A5-A0VP-01 COSM984387 c.2287G>T p.E763* Substitution - Nonsense 17:75571777-75571777 + 4000_T COSM3958750 c.2497T>A p.L833M Substitution - Missense 17:75573050-75573050 + SCC-25 COSM4603272 c.2864_2865insG p.S956fs*11 Insertion - Frameshift 17:75573619-75573620 + TCGA-E9-A226-01 COSM1480005 c.1995G>A p.R665R Substitution - coding silent 17:75570468-75570468 + T3152 COSM2979247 c.2762_2763delTC p.S924fs*23 Deletion - Frameshift 17:75573517-75573518 + TCGA-EE-A2A2-06 COSM3522155 c.861C>T p.L287L Substitution - coding silent 17:75563786-75563786 + NB-0462 COSM1285936 c.294delC p.L99fs*4 Deletion - Frameshift 17:75558550-75558550 + YUPAER COSM5387300 c.1674G>A p.W558* Substitution - Nonsense 17:75570055-75570055 + TCGA-B5-A11E-01 COSM984386 c.2100C>T p.I700I Substitution - coding silent 17:75571024-75571024 + TCGA-AU-6004-01 COSM1386004 c.817G>A p.V273M Substitution - Missense 17:75563454-75563454 + sysucc-1067T COSM5479805 c.1927G>A p.V643I Substitution - Missense 17:75570400-75570400 + T3503 COSM4698170 c.2350G>A p.G784R Substitution - Missense 17:75571954-75571954 + 3N39-VS-3T39 COSM4981505 c.326C>T p.S109L Substitution - Missense 17:75558582-75558582 + TCGA-AM-5820-01 COSM3755849 c.723C>T p.D241D Substitution - coding silent 17:75563360-75563360 + TARGET-30-PAPZYZ COSM1285938 c.513G>T p.S171S Substitution - coding silent 17:75559393-75559393 + 61 COSM5741134 c.1109G>A p.G370D Substitution - Missense 17:75568548-75568548 + TCGA-EE-A2MR-06 COSM3522143 c.216G>A p.E72E Substitution - coding silent 17:75558197-75558197 + CSCC-10-T COSM4526817 c.1420G>A p.D474N Substitution - Missense 17:75569075-75569075 + CSCC-16-T COSM4509370 c.804C>T p.P268P Substitution - coding silent 17:75563441-75563441 + CRC-02T COSM5454606 c.1859G>A p.R620Q Substitution - Missense 17:75570240-75570240 + TCGA-CG-4306-01 COSM4069577 c.50A>G p.K17R Substitution - Missense 17:75543476-75543476 + TCGA-D3-A3ML-06 COSM3522152 c.573G>A p.V191V Substitution - coding silent 17:75563058-75563058 + CHEWS027 COSM4580115 c.2596G>C p.V866L Substitution - Missense 17:75573149-75573149 + TCGA-BP-4166-01 COSM3362362 c.2795G>T p.R932L Substitution - Missense 17:75573550-75573550 + LAU63 COSM232690 c.53G>A p.R18Q Substitution - Missense 17:75543479-75543479 + TCGA-A8-A09I-01 COSM437388 c.1306G>C p.D436H Substitution - Missense 17:75568823-75568823 + LS174T COSM2979154 c.660C>T p.G220G Substitution - coding silent 17:75563145-75563145 + 587234 COSM1213457 c.2671C>T p.R891C Substitution - Missense 17:75573224-75573224 + TCGA-EE-A2GR-06 COSM3522161 c.1190C>T p.P397L Substitution - Missense 17:75568629-75568629 + LUAD-B02515 COSM336082 c.2550C>T p.H850H Substitution - coding silent 17:75573103-75573103 + 824_T COSM3958746 c.1236C>T p.N412N Substitution - coding silent 17:75568675-75568675 + TCGA-BR-8591-01 COSM4069580 c.316G>T p.G106C Substitution - Missense 17:75558572-75558572 + PDA_023 COSM437389 c.2275C>T p.P759S Substitution - Missense 17:75571765-75571765 + cSCCP6 COSM137121 c.1573G>A p.A525T Substitution - Missense 17:75569317-75569317 + T3225 COSM4698168 c.2253C>T p.P751P Substitution - coding silent 17:75571743-75571743 + TCGA-06-0125 COSM2149365 c.3024C>T p.A1008A Substitution - coding silent 17:75574637-75574637 + TCGA-FW-A3R5-06 COSM3890418 c.2630C>T p.S877L Substitution - Missense 17:75573183-75573183 + TCGA-BT-A20J-01 COSM417989 c.228G>A p.V76V Substitution - coding silent 17:75558209-75558209 + TCGA-13-0800-01 COSM75243 c.389C>G p.T130R Substitution - Missense 17:75559269-75559269 + TCGA-G4-6302-01 COSM437389 c.2275C>T p.P759S Substitution - Missense 17:75571765-75571765 + SC_9047 COSM4969712 c.38G>A p.R13Q Substitution - Missense 17:75543464-75543464 + TCGA-D9-A6EA-06 COSM4397944 c.836C>T p.P279L Substitution - Missense 17:75563761-75563761 + ESO-027 COSM1256526 c.25C>A p.H9N Substitution - Missense 17:75543451-75543451 + TCGA-EE-A2GC-06 COSM3522163 c.1351G>A p.D451N Substitution - Missense 17:75569006-75569006 + TCGA-EE-A3JI-06 COSM3522179 c.2380G>A p.E794K Substitution - Missense 17:75571984-75571984 + TCGA-HT-7601-01 COSM3970315 c.2247G>A p.V749V Substitution - coding silent 17:75571737-75571737 + LUAD-S01357 COSM386850 c.2578G>C p.G860R Substitution - Missense 17:75573131-75573131 + TCGA-13-0912-01 COSM69147 c.1002_1016del15 p.F335_T339del Deletion - In frame 17:75564473-75564487 + TCGA-HE-A5NJ-01 COSM4414502 c.1335C>A p.G445G Substitution - coding silent 17:75568990-75568990 + S01542 COSM5701219 c.2865_2866insG p.S956fs*11 Insertion - Frameshift 17:75573620-75573621 + TCGA-DM-A28M-01 COSM3691801 c.1359G>A p.S453S Substitution - coding silent 17:75569014-75569014 + 19M COSM5578881 c.1591C>T p.L531L Substitution - coding silent 17:75569972-75569972 + C086 COSM5533849 c.2368C>T p.P790S Substitution - Missense 17:75571972-75571972 + 61 COSM5722686 c.2140C>T p.R714W Substitution - Missense 17:75571064-75571064 + C658 COSM4443310 c.695A>G p.Q232R Substitution - Missense 17:75563332-75563332 + TCGA-D8-A1XL-01 COSM1479999 c.469C>G p.Q157E Substitution - Missense 17:75559349-75559349 + TCGA-FS-A1ZC-06 COSM3522140 c.75G>A p.K25K Substitution - coding silent 17:75543501-75543501 + 2250175 COSM137122 c.2257G>A p.E753K Substitution - Missense 17:75571747-75571747 + CN-AML-CR-7-Dx COSM3755846 c.134G>A p.R45H Substitution - Missense 17:75556104-75556104 + TCGA-DS-A0VM-01 COSM460228 c.612C>T p.I204I Substitution - coding silent 17:75563097-75563097 + TCGA-EE-A29C-06 COSM3522183 c.2647C>T p.P883S Substitution - Missense 17:75573200-75573200 + TCGA-AP-A051-01 COSM984383 c.142G>A p.A48T Substitution - Missense 17:75556112-75556112 + TCGA-EE-A2GR-06 COSM3522158 c.881G>A p.G294E Substitution - Missense 17:75563806-75563806 + T3111 COSM4698176 c.2852C>T p.P951L Substitution - Missense 17:75573607-75573607 + UD-SCC-2 COSM4603272 c.2864_2865insG p.S956fs*11 Insertion - Frameshift 17:75573619-75573620 + TCGA-BR-4361-01 COSM4069595 c.1572G>T p.T524T Substitution - coding silent 17:75569316-75569316 + TCGA-CC-A1HT-01 COSM4928297 c.2745C>G p.P915P Substitution - coding silent 17:75573500-75573500 + TCGA-FS-A1ZQ-06 COSM3522177 c.2276C>T p.P759L Substitution - Missense 17:75571766-75571766 + TCGA-EB-A44N-01 COSM3890414 c.2462T>G p.V821G Substitution - Missense 17:75573015-75573015 + T36 COSM4698166 c.1994G>A p.R665Q Substitution - Missense 17:75570467-75570467 + I2L-P19Tb-Tumor-Organoid COSM5363827 c.1254+7_1254+12delCTGGCC p.? Unknown 17:75568700-75568705 + TCGA-D9-A1JW-06 COSM3522146 c.405C>T p.V135V Substitution - coding silent 17:75559285-75559285 + TCGA-61-1727-01 COSM258890 c.2830C>T p.R944C Substitution - Missense 17:75573585-75573585 + CSCC-41-T COSM4479969 c.2376C>T p.P792P Substitution - coding silent 17:75571980-75571980 + TCGA-FW-A3R5-06 COSM3890416 c.2574C>T p.D858D Substitution - coding silent 17:75573127-75573127 + cSCCP6 COSM137122 c.2257G>A p.E753K Substitution - Missense 17:75571747-75571747 + ESCC_17 COSM5625932 c.170A>G p.K57R Substitution - Missense 17:75556140-75556140 + BCM325T COSM336082 c.2550C>T p.H850H Substitution - coding silent 17:75573103-75573103 + CSCC-31-T COSM4511143 c.859C>T p.L287F Substitution - Missense 17:75563784-75563784 + YUGOE COSM1710786 c.1909G>A p.E637K Substitution - Missense 17:75570382-75570382 + PDA_037 COSM4998302 c.1435T>C p.F479L Substitution - Missense 17:75569090-75569090 + TCGA-EB-A3XB-01 COSM3522185 c.2653G>A p.V885M Substitution - Missense 17:75573206-75573206 + LP6005500-DNA_A01 COSM5032488 c.2347G>A p.D783N Substitution - Missense 17:75571951-75571951 + MO_1012 COSM5550906 c.423C>T p.C141C Substitution - coding silent 17:75559303-75559303 + UM-SCC-4 COSM4603272 c.2864_2865insG p.S956fs*11 Insertion - Frameshift 17:75573619-75573620 + TCGA-A2-A4RX-01 COSM3820550 c.888C>T p.P296P Substitution - coding silent 17:75564359-75564359 + PD13162a COSM3403213 c.513G>C p.S171S Substitution - coding silent 17:75559393-75559393 + 8050939 COSM3388140 c.2995G>A p.G999R Substitution - Missense 17:75574494-75574494 + PD4103a COSM162174 c.517G>A p.A173T Substitution - Missense 17:75559397-75559397 + Capan-1 COSM328421 c.1118C>T p.P373L Substitution - Missense 17:75568557-75568557 + SNU-175 COSM2979216 c.1951C>T p.R651C Substitution - Missense 17:75570424-75570424 + CSCC-16-T COSM4475785 c.2016C>T p.P672P Substitution - coding silent 17:75570489-75570489 + ESCC-078T COSM3937564 c.343G>A p.E115K Substitution - Missense 17:75558599-75558599 + UPCI:SCC090 COSM4603272 c.2864_2865insG p.S956fs*11 Insertion - Frameshift 17:75573619-75573620 + CHEWS031 COSM4580105 c.77C>T p.T26M Substitution - Missense 17:75556047-75556047 + WSU-HN6 COSM4603272 c.2864_2865insG p.S956fs*11 Insertion - Frameshift 17:75573619-75573620 + BD188T COSM5500044 c.1661A>G p.E554G Substitution - Missense 17:75570042-75570042 + CHEWS028 COSM4580111 c.1333G>A p.G445S Substitution - Missense 17:75568988-75568988 + YURISA COSM984384 c.484C>T p.R162C Substitution - Missense 17:75559364-75559364 + C058 COSM5525192 c.1812C>T p.A604A Substitution - coding silent 17:75570193-75570193 + CSCC-44-T COSM4530534 c.1706G>A p.G569E Substitution - Missense 17:75570087-75570087 + TCGA-EE-A2GL-06 COSM3522189 c.2755G>A p.E919K Substitution - Missense 17:75573510-75573510 + TCGA-RP-A695-06 COSM4897027 c.2856G>A p.K952K Substitution - coding silent 17:75573611-75573611 + TCGA-AP-A051-01 COSM984385 c.1133A>G p.Y378C Substitution - Missense 17:75568572-75568572 + 2466115 COSM2979200 c.1471C>T p.R491C Substitution - Missense 17:75569126-75569126 + TCGA-BR-4184-01 COSM4069599 c.1999C>T p.R667W Substitution - Missense 17:75570472-75570472 + WA56 COSM240496 c.1084G>A p.V362M Substitution - Missense 17:75568523-75568523 + PD24202a COSM5774289 c.1700G>T p.R567L Substitution - Missense 17:75570081-75570081 + B37-Tumor COSM1750310 c.753C>T p.D251D Substitution - coding silent 17:75563390-75563390 + CHC2098T COSM5347695 c.76-2_83delAGACGGTGGA p.? Unknown 17:75556044-75556053 + TCGA-AM-5821-01 COSM3691798 c.126G>A p.P42P Substitution - coding silent 17:75556096-75556096 + TCGA-61-1910-01 COSM1324853 c.2111C>G p.S704W Substitution - Missense 17:75571035-75571035 + ESCC_BICR_041T COSM5441277 c.1023A>G p.A341A Substitution - coding silent 17:75564494-75564494 + TCGA-AZ-4615-01 COSM3755852 c.2370C>T p.P790P Substitution - coding silent 17:75571974-75571974 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.514477 17q25.1 2486546|dbSNP|BC064994|A/G|non-coding||3260|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.K17R c.50A>G 17 73539557 STAD A G Missense p.N947S c.2840A>G 17 73569676 CM C A IntronicSNV . c.174-72C>A 17 73554164 CM C A Missense p.H9N c.25C>A 17 73539532 ESCA C A Missense p.T329N c.986C>A 17 73560538 STAD C A Synonymous p.I779I c.2337C>A 17 73568022 HNSC CC TT Missense p.A856V c.2567_2568delinsTT 17 73569201 CM C - Frameshift p.L99Ffs*4 c.295delC 17 73554631 NB C G Missense p.P955R c.2864C>G 17 73569700 CM C G Missense p.Q157E c.469C>G 17 73555430 BRCA C G Missense p.S250C c.749C>G 17 73559467 BLCA C G Missense p.T130R c.389C>G 17 73555350 OV C G Synonymous p.L287L c.861C>G 17 73559867 HNSC C T 3-UTRSNV . c.3060+174C>T 17 73571130 CM C T IntronicSNV . c.174-122C>T 17 73554114 CM C T IntronicSNV . c.2177-59C>T 17 73567689 STAD C T IntronicSNV . c.372-269C>T 17 73555064 CLL C T Missense p.P397L c.1190C>T 17 73564710 CM C T Missense p.P432S c.1294C>T 17 73564892 CM C T Missense p.P503L c.1508C>T 17 73565333 CM C T Missense p.P759L c.2276C>T 17 73567847 CM C T Missense p.P883S c.2647C>T 17 73569281 CM C T Missense p.R448W c.1342C>T 17 73565078 RCCC C T Missense p.R844W c.2530C>T 17 73569164 UCEC C T Nonsense p.Q652* c.1954C>T 17 73566508 LUAD C T Synonymous p.A325A c.975C>T 17 73560527 CM C T Synonymous p.A752A c.2256C>T 17 73567827 CM C T Synonymous p.A856A c.2568C>T 17 73569202 BLCA C T Synonymous p.F31F c.93C>T 17 73552144 CM C T Synonymous p.F712F c.2136C>T 17 73567141 CM C T Synonymous p.H392H c.1176C>T 17 73564696 BRCA C T Synonymous p.H616H c.1848C>T 17 73566310 CM C T Synonymous p.I204I c.612C>T 17 73559178 BLCA C T Synonymous p.L136L c.406C>T 17 73555367 CM C T Synonymous p.L287L c.861C>T 17 73559867 CM C T Synonymous p.P268P c.804C>T 17 73559522 CM C T Synonymous p.P879P c.2637C>T 17 73569271 LUAD C T Synonymous p.S641S c.1923C>T 17 73566477 CM C T Synonymous p.V135V c.405C>T 17 73555366 CM CTTCACTGTCCTCAC - InFrameDeletion p.F335_T339delFTVLT c.1002_1016delCTTCACTGTCCTCAC 17 73560554 OV G A IntronicSNV . c.174-118G>A 17 73554118 CM G A Missense p.A173T c.517G>A 17 73555478 BRCA G A Missense p.A705T c.2113G>A 17 73567118 CM G A Missense p.A765T c.2293G>A 17 73567864 ESCA G A Missense p.D320N c.958G>A 17 73560510 LUSC G A Missense p.D451N c.1351G>A 17 73565087 CM G A Missense p.D502N c.1504G>A 17 73565329 COREAD G A Missense p.E794K c.2380G>A 17 73568065 CM G A Missense p.E917K c.2749G>A 17 73569585 CM G A Missense p.E919K c.2755G>A 17 73569591 CM G A Missense p.G294E c.881G>A 17 73559887 CM G A Missense p.G425D c.1274G>A 17 73564872 CM G A Missense p.M756I c.2268G>A 17 73567839 CM G A Missense p.R601Q c.1802G>A 17 73566264 LUSC G A Missense p.R845Q c.2534G>A 17 73569168 HNSC G A Missense p.R886H c.2657G>A 17 73569291 LUSC G A Synonymous p.K25K c.75G>A 17 73539582 CM G A Synonymous p.R665R c.1995G>A 17 73566549 BRCA G A Synonymous p.V191V c.573G>A 17 73559139 CM G A Synonymous p.V749V c.2247G>A 17 73567818 LGG G A Synonymous p.V76V c.228G>A 17 73554290 BLCA G A Synonymous p.V875V c.2625G>A 17 73569259 CM GCCGGCA - Frameshift p.S409Rfs*18 c.1227_1233delCCGGCAG 17 73564739 BRCA G C Missense p.D423H c.1267G>C 17 73564865 HNSC G C Missense p.D436H c.1306G>C 17 73564904 BRCA G C Synonymous p.S171S c.513G>C 17 73555474 GBM - G Frameshift p.S956Efs*11 c.2865dupG 17 73569701 BLCA GG AA Missense p.G560E c.1679_1680delinsAA 17 73566141 CM G T Missense p.R703L c.2108G>T 17 73567113 LUAD G T Missense p.R932L c.2795G>T 17 73569631 RCCC G T Nonsense p.E763* c.2287G>T 17 73567858 UCEC G T Nonsense p.G1018* c.3052G>T 17 73570746 UCEC - GT SpliceDonorInsertion . c.75+1_75+2insGT 17 73539583 CM G T Synonymous p.S171S c.513G>T 17 73555474 NB T A Missense p.F278L c.834T>A 17 73559840 STAD