Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 21 17150261 17150261 + Nonsense_Mutation SNP C C T TCGA-2F-A9KT-01A-11D-A38G-08 TCGA-2F-A9KT-10A-01D-A38J-08 g.chr21:17150261C>T c.307C>T c.(307-309)Cag>Tag p.Q103* BLCA 21 17150311 17150311 + Silent SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr21:17150311G>A c.357G>A c.(355-357)gaG>gaA p.E119E BLCA 21 17150316 17150316 + Missense_Mutation SNP G G C TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr21:17150316G>C c.362G>C c.(361-363)gGa>gCa p.G121A BLCA 21 17172127 17172127 + Missense_Mutation SNP C C T TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr21:17172127C>T c.607C>T c.(607-609)Cca>Tca p.P203S BLCA 21 17198660 17198660 + Missense_Mutation SNP C C A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 g.chr21:17198660C>A c.1442C>A c.(1441-1443)tCc>tAc p.S481Y BLCA 21 17203740 17203740 + Silent SNP C C T TCGA-CU-A0YN-01A-21D-A10S-08 TCGA-CU-A0YN-11A-11D-A10S-08 g.chr21:17203740C>T c.1785C>T c.(1783-1785)gcC>gcT p.A595A BLCA 21 17205839 17205839 + Silent SNP G G A TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr21:17205839G>A c.2166G>A c.(2164-2166)ttG>ttA p.L722L BLCA 21 17214771 17214771 + Missense_Mutation SNP C C T TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr21:17214771C>T c.2249C>T c.(2248-2250)tCa>tTa p.S750L BLCA 21 17236685 17236685 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr21:17236685C>G c.2436C>G c.(2434-2436)atC>atG p.I812M BLCA 21 17250653 17250653 + Frame_Shift_Del DEL G G - TCGA-DK-A3IM-01A-11D-A20D-08 TCGA-DK-A3IM-10A-01D-A20D-08 g.chr21:17250653delG c.3027delG c.(3025-3027)ttgfs p.L1009fs BLCA 21 17250767 17250767 + Silent SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 g.chr21:17250767C>T c.3141C>T c.(3139-3141)ctC>ctT p.L1047L BRCA 21 17150335 17150335 + Missense_Mutation SNP A A T TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr21:17150335A>T c.381A>T c.(379-381)caA>caT p.Q127H BRCA 21 17177479 17177479 + Missense_Mutation SNP C C G TCGA-A2-A0YH-01A-11D-A10G-09 TCGA-A2-A0YH-10A-01D-A10G-09 g.chr21:17177479C>G c.682C>G c.(682-684)Cta>Gta p.L228V BRCA 21 17199314 17199314 + Silent SNP A A T TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 g.chr21:17199314A>T c.1485A>T c.(1483-1485)ggA>ggT p.G495G BRCA 21 17199349 17199349 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 g.chr21:17199349C>T c.1520C>T c.(1519-1521)tCa>tTa p.S507L BRCA 21 17203783 17203783 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr21:17203783G>A c.1828G>A c.(1828-1830)Gca>Aca p.A610T BRCA 21 17205712 17205712 + Missense_Mutation SNP C C A TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 g.chr21:17205712C>A c.2039C>A c.(2038-2040)aCa>aAa p.T680K BRCA 21 17242407 17242407 + Silent SNP G G A TCGA-D8-A1JM-01A-11D-A13L-09 TCGA-D8-A1JM-10A-01D-A188-09 g.chr21:17242407G>A c.2616G>A c.(2614-2616)agG>agA p.R872R BRCA 21 17246810 17246810 + Nonsense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr21:17246810G>T c.2764G>T c.(2764-2766)Gaa>Taa p.E922* BRCA 21 17250132 17250132 + Silent SNP C C A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 g.chr21:17250132C>A c.2817C>A c.(2815-2817)gcC>gcA p.A939A BRCA 21 17250145 17250145 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr21:17250145G>A c.2830G>A c.(2830-2832)Gaa>Aaa p.E944K CESC 21 17246834 17246834 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr21:17246834G>T c.2788G>T c.(2788-2790)Gaa>Taa p.E930* COAD 21 17135221 17135221 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr21:17135221G>A c.57G>A c.(55-57)acG>acA p.T19T COAD 21 17150266 17150266 + Silent SNP A A G TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr21:17150266A>G c.312A>G c.(310-312)agA>agG p.R104R COAD 21 17163836 17163836 + Silent SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr21:17163836C>T c.408C>T c.(406-408)agC>agT p.S136S COAD 21 17172142 17172142 + Missense_Mutation SNP G G T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr21:17172142G>T c.622G>T c.(622-624)Gat>Tat p.D208Y COAD 21 17191079 17191079 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr21:17191079G>T c.994G>T c.(994-996)Gat>Tat p.D332Y COAD 21 17196441 17196441 + Missense_Mutation SNP A A C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr21:17196441A>C c.1164A>C c.(1162-1164)aaA>aaC p.K388N COAD 21 17198655 17198655 + Silent SNP T T C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr21:17198655T>C c.1437T>C c.(1435-1437)agT>agC p.S479S COAD 21 17199433 17199433 + Missense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr21:17199433C>T c.1604C>T c.(1603-1605)cCg>cTg p.P535L COAD 21 17199459 17199459 + Nonsense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr21:17199459G>T c.1630G>T c.(1630-1632)Gaa>Taa p.E544* COAD 21 17203797 17203797 + Silent SNP T T C TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr21:17203797T>C c.1842T>C c.(1840-1842)gaT>gaC p.D614D COAD 21 17205756 17205756 + Nonsense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr21:17205756C>T c.2083C>T c.(2083-2085)Cga>Tga p.R695* COAD 21 17236744 17236744 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr21:17236744G>A c.2495G>A c.(2494-2496)aGa>aAa p.R832K COAD 21 17242433 17242433 + Missense_Mutation SNP T T C TCGA-A6-5656-01A-21D-1835-10 TCGA-A6-5656-10A-01D-1835-10 g.chr21:17242433T>C c.2642T>C c.(2641-2643)cTc>cCc p.L881P COAD 21 17242433 17242433 + Missense_Mutation SNP T T C TCGA-A6-6654-01A-21D-1835-10 TCGA-A6-6654-10A-01D-1835-10 g.chr21:17242433T>C c.2642T>C c.(2641-2643)cTc>cCc p.L881P COAD 21 17242433 17242433 + Missense_Mutation SNP T T C TCGA-CA-6715-01A-21D-1835-10 TCGA-CA-6715-10A-01D-1835-10 g.chr21:17242433T>C c.2642T>C c.(2641-2643)cTc>cCc p.L881P COAD 21 17242433 17242433 + Missense_Mutation SNP T T C TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr21:17242433T>C c.2642T>C c.(2641-2643)cTc>cCc p.L881P COAD 21 17242433 17242433 + Missense_Mutation SNP T T C TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr21:17242433T>C c.2642T>C c.(2641-2643)cTc>cCc p.L881P COAD 21 17242433 17242433 + Missense_Mutation SNP T T C TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr21:17242433T>C c.2642T>C c.(2641-2643)cTc>cCc p.L881P COAD 21 17242433 17242433 + Missense_Mutation SNP T T C TCGA-D5-6920-01A-11D-1924-10 TCGA-D5-6920-10A-01D-1924-10 g.chr21:17242433T>C c.2642T>C c.(2641-2643)cTc>cCc p.L881P COAD 21 17250151 17250151 + Missense_Mutation SNP G G A TCGA-AZ-6603-01A-11D-1835-10 TCGA-AZ-6603-11A-02D-1835-10 g.chr21:17250151G>A c.2836G>A c.(2836-2838)Gga>Aga p.G946R COAD 21 17250151 17250151 + Missense_Mutation SNP G G A TCGA-CM-6172-01A-11D-1650-10 TCGA-CM-6172-10A-01D-1650-10 g.chr21:17250151G>A c.2836G>A c.(2836-2838)Gga>Aga p.G946R COAD 21 17250151 17250151 + Nonsense_Mutation SNP G G T TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr21:17250151G>T c.2836G>T c.(2836-2838)Gga>Tga p.G946* COAD 21 17250153 17250153 + Silent SNP A A G TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr21:17250153A>G c.2838A>G c.(2836-2838)ggA>ggG p.G946G COAD 21 17250153 17250153 + Silent SNP A A G TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr21:17250153A>G c.2838A>G c.(2836-2838)ggA>ggG p.G946G COAD 21 17250153 17250153 + Silent SNP A A G TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr21:17250153A>G c.2838A>G c.(2836-2838)ggA>ggG p.G946G COAD 21 17250153 17250153 + Silent SNP A A G TCGA-AZ-6606-01A-11D-1835-10 TCGA-AZ-6606-11A-01D-1835-10 g.chr21:17250153A>G c.2838A>G c.(2836-2838)ggA>ggG p.G946G COAD 21 17250153 17250153 + Silent SNP A A G TCGA-D5-5538-01A-01D-1650-10 TCGA-D5-5538-10A-02D-1650-10 g.chr21:17250153A>G c.2838A>G c.(2836-2838)ggA>ggG p.G946G COAD 21 17250185 17250185 + Missense_Mutation SNP T T C TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr21:17250185T>C c.2870T>C c.(2869-2871)aTc>aCc p.I957T COAD 21 17250185 17250185 + Missense_Mutation SNP T T C TCGA-CM-6164-01A-11D-1650-10 TCGA-CM-6164-10A-01D-1650-10 g.chr21:17250185T>C c.2870T>C c.(2869-2871)aTc>aCc p.I957T COAD 21 17250186 17250186 + Silent SNP C C T TCGA-AZ-6600-01A-11D-1771-10 TCGA-AZ-6600-11A-01D-1771-10 g.chr21:17250186C>T c.2871C>T c.(2869-2871)atC>atT p.I957I COAD 21 17250625 17250625 + Missense_Mutation SNP A A G TCGA-CA-6719-01A-11D-1835-10 TCGA-CA-6719-10A-01D-1835-10 g.chr21:17250625A>G c.2999A>G c.(2998-3000)cAc>cGc p.H1000R COAD 21 17250698 17250698 + Silent SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr21:17250698G>A c.3072G>A c.(3070-3072)gaG>gaA p.E1024E COAD 21 17250704 17250704 + Silent SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr21:17250704G>A c.3078G>A c.(3076-3078)ccG>ccA p.P1026P COAD 21 17250709 17250709 + Missense_Mutation SNP T T C TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr21:17250709T>C c.3083T>C c.(3082-3084)tTa>tCa p.L1028S COAD 21 17250772 17250772 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr21:17250772G>A c.3146G>A c.(3145-3147)cGa>cAa p.R1049Q COADREAD 21 17135221 17135221 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr21:17135221G>A c.57G>A c.(55-57)acG>acA p.T19T COADREAD 21 17138320 17138320 + Missense_Mutation SNP G G T TCGA-AG-A036-01A-12W-A096-10 TCGA-AG-A036-11A-11W-A096-10 g.chr21:17138320G>T c.128G>T c.(127-129)aGt>aTt p.S43I COADREAD 21 17150266 17150266 + Silent SNP A A G TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr21:17150266A>G c.312A>G c.(310-312)agA>agG p.R104R COADREAD 21 17163836 17163836 + Silent SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr21:17163836C>T c.408C>T c.(406-408)agC>agT p.S136S COADREAD 21 17163895 17163895 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:17163895G>A c.467G>A c.(466-468)cGa>cAa p.R156Q COADREAD 21 17172142 17172142 + Missense_Mutation SNP G G T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr21:17172142G>T c.622G>T c.(622-624)Gat>Tat p.D208Y COADREAD 21 17191079 17191079 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr21:17191079G>T c.994G>T c.(994-996)Gat>Tat p.D332Y COADREAD 21 17196441 17196441 + Missense_Mutation SNP A A C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr21:17196441A>C c.1164A>C c.(1162-1164)aaA>aaC p.K388N COADREAD 21 17198645 17198645 + Missense_Mutation SNP C C T TCGA-AG-A00C-01A-01W-A005-10 TCGA-AG-A00C-10A-01W-A005-10 g.chr21:17198645C>T c.1427C>T c.(1426-1428)tCc>tTc p.S476F COADREAD 21 17198655 17198655 + Silent SNP T T C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr21:17198655T>C c.1437T>C c.(1435-1437)agT>agC p.S479S COADREAD 21 17199433 17199433 + Missense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr21:17199433C>T c.1604C>T c.(1603-1605)cCg>cTg p.P535L COADREAD 21 17199459 17199459 + Nonsense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr21:17199459G>T c.1630G>T c.(1630-1632)Gaa>Taa p.E544* COADREAD 21 17203797 17203797 + Silent SNP T T C TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr21:17203797T>C c.1842T>C c.(1840-1842)gaT>gaC p.D614D COADREAD 21 17205756 17205756 + Nonsense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr21:17205756C>T c.2083C>T c.(2083-2085)Cga>Tga p.R695* COADREAD 21 17205776 17205776 + Silent SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:17205776A>G c.2103A>G c.(2101-2103)gaA>gaG p.E701E COADREAD 21 17214800 17214800 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:17214800A>G c.2278A>G c.(2278-2280)Ata>Gta p.I760V COADREAD 21 17236744 17236744 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr21:17236744G>A c.2495G>A c.(2494-2496)aGa>aAa p.R832K COADREAD 21 17242433 17242433 + Missense_Mutation SNP T T C TCGA-A6-5656-01A-21D-1835-10 TCGA-A6-5656-10A-01D-1835-10 g.chr21:17242433T>C c.2642T>C c.(2641-2643)cTc>cCc p.L881P COADREAD 21 17242433 17242433 + Missense_Mutation SNP T T C TCGA-A6-6654-01A-21D-1835-10 TCGA-A6-6654-10A-01D-1835-10 g.chr21:17242433T>C c.2642T>C c.(2641-2643)cTc>cCc p.L881P COADREAD 21 17242433 17242433 + Missense_Mutation SNP T T C TCGA-CA-6715-01A-21D-1835-10 TCGA-CA-6715-10A-01D-1835-10 g.chr21:17242433T>C c.2642T>C c.(2641-2643)cTc>cCc p.L881P COADREAD 21 17242433 17242433 + Missense_Mutation SNP T T C TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr21:17242433T>C c.2642T>C c.(2641-2643)cTc>cCc p.L881P COADREAD 21 17242433 17242433 + Missense_Mutation SNP T T C TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr21:17242433T>C c.2642T>C c.(2641-2643)cTc>cCc p.L881P COADREAD 21 17242433 17242433 + Missense_Mutation SNP T T C TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr21:17242433T>C c.2642T>C c.(2641-2643)cTc>cCc p.L881P COADREAD 21 17242433 17242433 + Missense_Mutation SNP T T C TCGA-D5-6920-01A-11D-1924-10 TCGA-D5-6920-10A-01D-1924-10 g.chr21:17242433T>C c.2642T>C c.(2641-2643)cTc>cCc p.L881P COADREAD 21 17250151 17250151 + Missense_Mutation SNP G G A TCGA-AZ-6603-01A-11D-1835-10 TCGA-AZ-6603-11A-02D-1835-10 g.chr21:17250151G>A c.2836G>A c.(2836-2838)Gga>Aga p.G946R COADREAD 21 17250151 17250151 + Missense_Mutation SNP G G A TCGA-CM-6172-01A-11D-1650-10 TCGA-CM-6172-10A-01D-1650-10 g.chr21:17250151G>A c.2836G>A c.(2836-2838)Gga>Aga p.G946R COADREAD 21 17250151 17250151 + Nonsense_Mutation SNP G G T TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr21:17250151G>T c.2836G>T c.(2836-2838)Gga>Tga p.G946* COADREAD 21 17250151 17250151 + Nonsense_Mutation SNP G G T TCGA-DY-A0XA-01A-11D-A152-10 TCGA-DY-A0XA-10A-01D-A152-10 g.chr21:17250151G>T c.2836G>T c.(2836-2838)Gga>Tga p.G946* COADREAD 21 17250153 17250153 + Silent SNP A A G TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr21:17250153A>G c.2838A>G c.(2836-2838)ggA>ggG p.G946G COADREAD 21 17250153 17250153 + Silent SNP A A G TCGA-AG-3732-01A-11D-1657-10 TCGA-AG-3732-11A-01D-1657-10 g.chr21:17250153A>G c.2838A>G c.(2836-2838)ggA>ggG p.G946G COADREAD 21 17250153 17250153 + Silent SNP A A G TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr21:17250153A>G c.2838A>G c.(2836-2838)ggA>ggG p.G946G COADREAD 21 17250153 17250153 + Silent SNP A A G TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr21:17250153A>G c.2838A>G c.(2836-2838)ggA>ggG p.G946G COADREAD 21 17250153 17250153 + Silent SNP A A G TCGA-AZ-6606-01A-11D-1835-10 TCGA-AZ-6606-11A-01D-1835-10 g.chr21:17250153A>G c.2838A>G c.(2836-2838)ggA>ggG p.G946G COADREAD 21 17250153 17250153 + Silent SNP A A G TCGA-D5-5538-01A-01D-1650-10 TCGA-D5-5538-10A-02D-1650-10 g.chr21:17250153A>G c.2838A>G c.(2836-2838)ggA>ggG p.G946G COADREAD 21 17250185 17250185 + Missense_Mutation SNP T T C TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr21:17250185T>C c.2870T>C c.(2869-2871)aTc>aCc p.I957T COADREAD 21 17250185 17250185 + Missense_Mutation SNP T T C TCGA-CM-6164-01A-11D-1650-10 TCGA-CM-6164-10A-01D-1650-10 g.chr21:17250185T>C c.2870T>C c.(2869-2871)aTc>aCc p.I957T COADREAD 21 17250186 17250186 + Silent SNP C C T TCGA-AZ-6600-01A-11D-1771-10 TCGA-AZ-6600-11A-01D-1771-10 g.chr21:17250186C>T c.2871C>T c.(2869-2871)atC>atT p.I957I COADREAD 21 17250625 17250625 + Missense_Mutation SNP A A G TCGA-CA-6719-01A-11D-1835-10 TCGA-CA-6719-10A-01D-1835-10 g.chr21:17250625A>G c.2999A>G c.(2998-3000)cAc>cGc p.H1000R COADREAD 21 17250698 17250698 + Silent SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr21:17250698G>A c.3072G>A c.(3070-3072)gaG>gaA p.E1024E COADREAD 21 17250704 17250704 + Silent SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr21:17250704G>A c.3078G>A c.(3076-3078)ccG>ccA p.P1026P COADREAD 21 17250704 17250704 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:17250704G>A c.3078G>A c.(3076-3078)ccG>ccA p.P1026P COADREAD 21 17250709 17250709 + Missense_Mutation SNP T T C TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr21:17250709T>C c.3083T>C c.(3082-3084)tTa>tCa p.L1028S COADREAD 21 17250772 17250772 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr21:17250772G>A c.3146G>A c.(3145-3147)cGa>cAa p.R1049Q COADREAD 21 17250772 17250772 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:17250772G>A c.3146G>A c.(3145-3147)cGa>cAa p.R1049Q DLBC 21 17172112 17172112 + Silent SNP C C T TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr21:17172112C>T c.592C>T c.(592-594)Ctg>Ttg p.L198L DLBC 21 17181168 17181168 + Nonsense_Mutation SNP T T G TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr21:17181168T>G c.821T>G c.(820-822)tTa>tGa p.L274* DLBC 21 17236674 17236674 + Missense_Mutation SNP G G C TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr21:17236674G>C c.2425G>C c.(2425-2427)Gtc>Ctc p.V809L DLBC 21 17250244 17250244 + Missense_Mutation SNP A A C TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr21:17250244A>C c.2929A>C c.(2929-2931)Aag>Cag p.K977Q ESCA 21 17191133 17191133 + Missense_Mutation SNP C C G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 g.chr21:17191133C>G c.1048C>G c.(1048-1050)Cat>Gat p.H350D GBM 21 17199405 17199405 + Missense_Mutation SNP C C T TCGA-28-5204-01A-01D-1486-08 TCGA-28-5204-10A-01D-1486-08 g.chr21:17199405C>T c.1576C>T c.(1576-1578)Cgg>Tgg p.R526W GBMLGG 21 17199374 17199374 + Silent SNP A A G TCGA-S9-A6TU-01A-12D-A32B-08 TCGA-S9-A6TU-10A-01D-A329-08 g.chr21:17199374A>G c.1545A>G c.(1543-1545)agA>agG p.R515R GBMLGG 21 17199405 17199405 + Missense_Mutation SNP C C T TCGA-28-5204-01A-01D-1486-08 TCGA-28-5204-10A-01D-1486-08 g.chr21:17199405C>T c.1576C>T c.(1576-1578)Cgg>Tgg p.R526W GBMLGG 21 17203875 17203876 + Frame_Shift_Del DEL TT TT - TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 g.chr21:17203875_17203876delTT c.1920_1921delTT c.(1918-1923)tcttttfs p.F641fs GBMLGG 21 17238647 17238647 + Missense_Mutation SNP A A G TCGA-CS-4943-01A-01D-1468-08 TCGA-CS-4943-10A-01D-1468-08 g.chr21:17238647A>G c.2579A>G c.(2578-2580)aAc>aGc p.N860S GBMLGG 21 17246800 17246800 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:17246800A>G c.2754A>G c.(2752-2754)ggA>ggG p.G918G GBMLGG 21 17246819 17246819 + Missense_Mutation SNP T T C TCGA-DU-6407-01A-13D-1705-08 TCGA-DU-6407-10A-01D-1705-08 g.chr21:17246819T>C c.2773T>C c.(2773-2775)Tca>Cca p.S925P GBMLGG 21 17246839 17246839 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:17246839T>C c.2793T>C c.(2791-2793)tgT>tgC p.C931C GBMLGG 21 17250117 17250117 + Silent SNP A A G TCGA-E1-5307-01A-01D-1893-08 TCGA-E1-5307-10A-01D-1893-08 g.chr21:17250117A>G c.2802A>G c.(2800-2802)aaA>aaG p.K934K HNSC 21 17197371 17197371 + Missense_Mutation SNP G G T TCGA-BB-7870-01A-11D-2229-08 TCGA-BB-7870-10A-01D-2229-08 g.chr21:17197371G>T c.1295G>T c.(1294-1296)aGg>aTg p.R432M HNSC 21 17199409 17199409 + Missense_Mutation SNP T T C TCGA-UF-A7JD-01A-11D-A34J-08 TCGA-UF-A7JD-10A-01D-A34M-08 g.chr21:17199409T>C c.1580T>C c.(1579-1581)aTa>aCa p.I527T HNSC 21 17236767 17236767 + Splice_Site SNP T T A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 g.chr21:17236767T>A c.e19+2 KICH 21 17150316 17150316 + Missense_Mutation SNP G G A TCGA-KO-8416-01A-11D-2310-10 TCGA-KO-8416-11A-01D-2311-10 g.chr21:17150316G>A c.362G>A c.(361-363)gGa>gAa p.G121E KIPAN 21 17135271 17135271 + Missense_Mutation SNP T T A TCGA-2Z-A9JE-01A-11D-A42J-10 TCGA-2Z-A9JE-10A-01D-A42M-10 g.chr21:17135271T>A c.107T>A c.(106-108)cTa>cAa p.L36Q KIPAN 21 17138432 17138432 + Nonsense_Mutation SNP C C G TCGA-G7-6793-01A-11D-1961-08 TCGA-G7-6793-10A-01D-1962-08 g.chr21:17138432C>G c.240C>G c.(238-240)taC>taG p.Y80* KIPAN 21 17150316 17150316 + Missense_Mutation SNP G G A TCGA-KO-8416-01A-11D-2310-10 TCGA-KO-8416-11A-01D-2311-10 g.chr21:17150316G>A c.362G>A c.(361-363)gGa>gAa p.G121E KIPAN 21 17172133 17172133 + Missense_Mutation SNP A A G TCGA-SX-A71S-01A-11D-A33Q-10 TCGA-SX-A71S-10A-01D-A33Q-10 g.chr21:17172133A>G c.613A>G c.(613-615)Aat>Gat p.N205D KIPAN 21 17197352 17197352 + Missense_Mutation SNP C C G TCGA-B0-5095-01A-01D-1421-08 TCGA-B0-5095-11A-01D-1421-08 g.chr21:17197352C>G c.1276C>G c.(1276-1278)Ctc>Gtc p.L426V KIPAN 21 17205757 17205757 + Missense_Mutation SNP G G A TCGA-CJ-5679-01A-11D-1534-10 TCGA-CJ-5679-11A-01D-1535-10 g.chr21:17205757G>A c.2084G>A c.(2083-2085)cGa>cAa p.R695Q KIPAN 21 17214827 17214829 + In_Frame_Del DEL GAA GAA - TCGA-UZ-A9Q0-01A-12D-A42J-10 TCGA-UZ-A9Q0-10A-01D-A42M-10 g.chr21:17214827_17214829delGAA c.2305_2307delGAA c.(2305-2307)gaadel p.E769del KIPAN 21 17246743 17246743 + Silent SNP C C T TCGA-CZ-4865-01A-02D-1501-10 TCGA-CZ-4865-11A-01D-1501-10 g.chr21:17246743C>T c.2697C>T c.(2695-2697)ttC>ttT p.F899F KIPAN 21 17250242 17250242 + Missense_Mutation SNP A A T TCGA-UZ-A9PO-01A-11D-A382-10 TCGA-UZ-A9PO-10A-01D-A385-10 g.chr21:17250242A>T c.2927A>T c.(2926-2928)gAa>gTa p.E976V KIRC 21 17197352 17197352 + Missense_Mutation SNP C C G TCGA-B0-5095-01A-01D-1421-08 TCGA-B0-5095-11A-01D-1421-08 g.chr21:17197352C>G c.1276C>G c.(1276-1278)Ctc>Gtc p.L426V KIRC 21 17205757 17205757 + Missense_Mutation SNP G G A TCGA-CJ-5679-01A-11D-1534-10 TCGA-CJ-5679-11A-01D-1535-10 g.chr21:17205757G>A c.2084G>A c.(2083-2085)cGa>cAa p.R695Q KIRC 21 17246743 17246743 + Silent SNP C C T TCGA-CZ-4865-01A-02D-1501-10 TCGA-CZ-4865-11A-01D-1501-10 g.chr21:17246743C>T c.2697C>T c.(2695-2697)ttC>ttT p.F899F KIRP 21 17135271 17135271 + Missense_Mutation SNP T T A TCGA-2Z-A9JE-01A-11D-A42J-10 TCGA-2Z-A9JE-10A-01D-A42M-10 g.chr21:17135271T>A c.107T>A c.(106-108)cTa>cAa p.L36Q KIRP 21 17138432 17138432 + Nonsense_Mutation SNP C C G TCGA-G7-6793-01A-11D-1961-08 TCGA-G7-6793-10A-01D-1962-08 g.chr21:17138432C>G c.240C>G c.(238-240)taC>taG p.Y80* KIRP 21 17172133 17172133 + Missense_Mutation SNP A A G TCGA-SX-A71S-01A-11D-A33Q-10 TCGA-SX-A71S-10A-01D-A33Q-10 g.chr21:17172133A>G c.613A>G c.(613-615)Aat>Gat p.N205D KIRP 21 17214827 17214829 + In_Frame_Del DEL GAA GAA - TCGA-UZ-A9Q0-01A-12D-A42J-10 TCGA-UZ-A9Q0-10A-01D-A42M-10 g.chr21:17214827_17214829delGAA c.2305_2307delGAA c.(2305-2307)gaadel p.E769del KIRP 21 17250242 17250242 + Missense_Mutation SNP A A T TCGA-UZ-A9PO-01A-11D-A382-10 TCGA-UZ-A9PO-10A-01D-A385-10 g.chr21:17250242A>T c.2927A>T c.(2926-2928)gAa>gTa p.E976V LGG 21 17199374 17199374 + Silent SNP A A G TCGA-S9-A6TU-01A-12D-A32B-08 TCGA-S9-A6TU-10A-01D-A329-08 g.chr21:17199374A>G c.1545A>G c.(1543-1545)agA>agG p.R515R LGG 21 17203875 17203876 + Frame_Shift_Del DEL TT TT - TCGA-VW-A7QS-01A-12D-A33T-08 TCGA-VW-A7QS-10A-02D-A33W-08 g.chr21:17203875_17203876delTT c.1920_1921delTT c.(1918-1923)tcttttfs p.F641fs LGG 21 17238647 17238647 + Missense_Mutation SNP A A G TCGA-CS-4943-01A-01D-1468-08 TCGA-CS-4943-10A-01D-1468-08 g.chr21:17238647A>G c.2579A>G c.(2578-2580)aAc>aGc p.N860S LGG 21 17246800 17246800 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:17246800A>G c.2754A>G c.(2752-2754)ggA>ggG p.G918G LGG 21 17246819 17246819 + Missense_Mutation SNP T T C TCGA-DU-6407-01A-13D-1705-08 TCGA-DU-6407-10A-01D-1705-08 g.chr21:17246819T>C c.2773T>C c.(2773-2775)Tca>Cca p.S925P LGG 21 17246839 17246839 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:17246839T>C c.2793T>C c.(2791-2793)tgT>tgC p.C931C LGG 21 17250117 17250117 + Silent SNP A A G TCGA-E1-5307-01A-01D-1893-08 TCGA-E1-5307-10A-01D-1893-08 g.chr21:17250117A>G c.2802A>G c.(2800-2802)aaA>aaG p.K934K LIHC 21 17163836 17163836 + Silent SNP C C T TCGA-BC-A3KF-01A-11D-A20W-10 TCGA-BC-A3KF-10A-01D-A20W-10 g.chr21:17163836C>T c.408C>T c.(406-408)agC>agT p.S136S LIHC 21 17196476 17196476 + Missense_Mutation SNP A A G TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr21:17196476A>G c.1199A>G c.(1198-1200)tAt>tGt p.Y400C LIHC 21 17197365 17197365 + Missense_Mutation SNP A A G TCGA-G3-A25S-01A-11D-A16V-10 TCGA-G3-A25S-10A-01D-A16V-10 g.chr21:17197365A>G c.1289A>G c.(1288-1290)cAa>cGa p.Q430R LIHC 21 17250204 17250204 + Silent SNP C C T TCGA-MI-A75I-01A-11D-A32G-10 TCGA-MI-A75I-10A-01D-A32G-10 g.chr21:17250204C>T c.2889C>T c.(2887-2889)gtC>gtT p.V963V LUAD 21 17150265 17150265 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr21:17150265G>A c.311G>A c.(310-312)aGa>aAa p.R104K LUAD 21 17191058 17191058 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 g.chr21:17191058C>T c.973C>T c.(973-975)Ctt>Ttt p.L325F LUAD 21 17196427 17196427 + Nonsense_Mutation SNP G G T TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr21:17196427G>T c.1150G>T c.(1150-1152)Gga>Tga p.G384* LUAD 21 17197314 17197314 + Missense_Mutation SNP G G A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr21:17197314G>A c.1238G>A c.(1237-1239)aGa>aAa p.R413K LUAD 21 17199412 17199412 + Missense_Mutation SNP C C T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 g.chr21:17199412C>T c.1583C>T c.(1582-1584)cCt>cTt p.P528L LUAD 21 17202921 17202921 + Splice_Site SNP G G A TCGA-35-5375-01A-01D-1625-08 TCGA-35-5375-10A-01D-1625-08 g.chr21:17202921G>A c.e15+1 LUAD 21 17203882 17203882 + Missense_Mutation SNP G G T TCGA-86-8672-01A-21D-2393-08 TCGA-86-8672-10A-01D-2393-08 g.chr21:17203882G>T c.1927G>T c.(1927-1929)Ggt>Tgt p.G643C LUAD 21 17205774 17205774 + Missense_Mutation SNP G G C TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 g.chr21:17205774G>C c.2101G>C c.(2101-2103)Gaa>Caa p.E701Q LUAD 21 17214816 17214816 + Nonsense_Mutation SNP C C G TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr21:17214816C>G c.2294C>G c.(2293-2295)tCa>tGa p.S765* LUAD 21 17250751 17250751 + Missense_Mutation SNP G G A TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr21:17250751G>A c.3125G>A c.(3124-3126)cGa>cAa p.R1042Q LUSC 21 17138410 17138410 + Missense_Mutation SNP C C A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 g.chr21:17138410C>A c.218C>A c.(217-219)gCa>gAa p.A73E LUSC 21 17163870 17163870 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr21:17163870C>T c.442C>T c.(442-444)Cct>Tct p.P148S LUSC 21 17191131 17191131 + Missense_Mutation SNP T T C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr21:17191131T>C c.1046T>C c.(1045-1047)tTa>tCa p.L349S LUSC 21 17197357 17197357 + Silent SNP G G A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 g.chr21:17197357G>A c.1281G>A c.(1279-1281)acG>acA p.T427T LUSC 21 17198684 17198684 + Splice_Site SNP G G T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 g.chr21:17198684G>T c.1466G>T c.(1465-1467)aGc>aTc p.S489I LUSC 21 17214736 17214736 + Silent SNP A A C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 g.chr21:17214736A>C c.2214A>C c.(2212-2214)ccA>ccC p.P738P LUSC 21 17214842 17214842 + Nonsense_Mutation SNP G G T TCGA-60-2713-01A-01D-1522-08 TCGA-60-2713-11A-01D-1522-08 g.chr21:17214842G>T c.2320G>T c.(2320-2322)Gaa>Taa p.E774* LUSC 21 17242405 17242405 + Missense_Mutation SNP A A T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 g.chr21:17242405A>T c.2614A>T c.(2614-2616)Agg>Tgg p.R872W OV 21 17199305 17199305 + Silent SNP A A G TCGA-30-1862-01A-02W-0699-08 TCGA-30-1862-10A-01W-0699-08 g.chr21:17199305A>G c.1476A>G c.(1474-1476)gaA>gaG p.E492E OV 21 17242434 17242434 + Silent SNP C C G TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 g.chr21:17242434C>G c.2643C>G c.(2641-2643)ctC>ctG p.L881L OV 21 17250151 17250151 + Missense_Mutation SNP G G C TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 g.chr21:17250151G>C c.2836G>C c.(2836-2838)Gga>Cga p.G946R OV 21 17250186 17250186 + Silent SNP C C T TCGA-24-2293-01A-01W-0799-08 TCGA-24-2293-10A-01W-0799-08 g.chr21:17250186C>T c.2871C>T c.(2869-2871)atC>atT p.I957I PAAD 21 17181149 17181149 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr21:17181149C>T c.802C>T c.(802-804)Cac>Tac p.H268Y PAAD 21 17181187 17181187 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr21:17181187G>A c.840G>A c.(838-840)atG>atA p.M280I PAAD 21 17205843 17205843 + Nonsense_Mutation SNP G G T TCGA-2J-AABT-01A-11D-A40W-08 TCGA-2J-AABT-10A-01D-A40W-08 g.chr21:17205843G>T c.2170G>T c.(2170-2172)Gag>Tag p.E724* READ 21 17138320 17138320 + Missense_Mutation SNP G G T TCGA-AG-A036-01A-12W-A096-10 TCGA-AG-A036-11A-11W-A096-10 g.chr21:17138320G>T c.128G>T c.(127-129)aGt>aTt p.S43I READ 21 17163895 17163895 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:17163895G>A c.467G>A c.(466-468)cGa>cAa p.R156Q READ 21 17198645 17198645 + Missense_Mutation SNP C C T TCGA-AG-A00C-01A-01W-A005-10 TCGA-AG-A00C-10A-01W-A005-10 g.chr21:17198645C>T c.1427C>T c.(1426-1428)tCc>tTc p.S476F READ 21 17205776 17205776 + Silent SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:17205776A>G c.2103A>G c.(2101-2103)gaA>gaG p.E701E READ 21 17214800 17214800 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:17214800A>G c.2278A>G c.(2278-2280)Ata>Gta p.I760V READ 21 17250151 17250151 + Nonsense_Mutation SNP G G T TCGA-DY-A0XA-01A-11D-A152-10 TCGA-DY-A0XA-10A-01D-A152-10 g.chr21:17250151G>T c.2836G>T c.(2836-2838)Gga>Tga p.G946* READ 21 17250153 17250153 + Silent SNP A A G TCGA-AG-3732-01A-11D-1657-10 TCGA-AG-3732-11A-01D-1657-10 g.chr21:17250153A>G c.2838A>G c.(2836-2838)ggA>ggG p.G946G READ 21 17250704 17250704 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:17250704G>A c.3078G>A c.(3076-3078)ccG>ccA p.P1026P READ 21 17250772 17250772 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:17250772G>A c.3146G>A c.(3145-3147)cGa>cAa p.R1049Q SARC 21 17183456 17183456 + Splice_Site SNP G G T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 g.chr21:17183456G>T c.858G>T c.(856-858)acG>acT p.T286T SKCM 21 17138385 17138385 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr21:17138385G>A c.193G>A c.(193-195)Gag>Aag p.E65K SKCM 21 17163931 17163931 + Missense_Mutation SNP C C T TCGA-DA-A1HW-06A-11D-A19A-08 TCGA-DA-A1HW-10A-01D-A19A-08 g.chr21:17163931C>T c.503C>T c.(502-504)cCc>cTc p.P168L SKCM 21 17183476 17183476 + Missense_Mutation SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr21:17183476A>G c.878A>G c.(877-879)aAc>aGc p.N293S SKCM 21 17191061 17191061 + Nonsense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr21:17191061C>T c.976C>T c.(976-978)Cag>Tag p.Q326* SKCM 21 17191139 17191139 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr21:17191139G>A c.1054G>A c.(1054-1056)Gag>Aag p.E352K SKCM 21 17191160 17191160 + Nonsense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 g.chr21:17191160C>T c.1075C>T c.(1075-1077)Caa>Taa p.Q359* SKCM 21 17196463 17196463 + Missense_Mutation SNP C C T TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr21:17196463C>T c.1186C>T c.(1186-1188)Ccc>Tcc p.P396S SKCM 21 17197380 17197380 + Splice_Site SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr21:17197380G>A c.1304G>A c.(1303-1305)aGa>aAa p.R435K SKCM 21 17246733 17246733 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr21:17246733C>T c.2687C>T c.(2686-2688)tCc>tTc p.S896F SKCM 21 17246820 17246820 + Missense_Mutation SNP C C T TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chr21:17246820C>T c.2774C>T c.(2773-2775)tCa>tTa p.S925L SKCM 21 17250265 17250265 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr21:17250265G>A c.2950G>A c.(2950-2952)Gat>Aat p.D984N SKCM 21 17250673 17250673 + Missense_Mutation SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr21:17250673C>T c.3047C>T c.(3046-3048)tCt>tTt p.S1016F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 21 17203740 17203740 single base substitution C T intron_variant BLCA-US 21 17203740 17203740 single base substitution C T synonymous_variant A123A 369C>T BLCA-US 21 17203740 17203740 single base substitution C T synonymous_variant A595A 1785C>T BLCA-US 21 17236685 17236685 single base substitution C G intron_variant BLCA-US 21 17236685 17236685 single base substitution C G missense_variant I110M 330C>G BLCA-US 21 17236685 17236685 single base substitution C G missense_variant I812M 2436C>G BLCA-US 21 17236685 17236685 single base substitution C G missense_variant I844M 2532C>G BLCA-US 21 17236685 17236685 single base substitution C G missense_variant I882M 2646C>G BLCA-US 21 17250653 17250653 deletion of <=200bp G - downstream_gene_variant BLCA-US 21 17250653 17250653 deletion of <=200bp G - exon_variant BLCA-US 21 17250653 17250653 deletion of <=200bp G - frameshift_variant L1009 BLCA-US 21 17250653 17250653 deletion of <=200bp G - frameshift_variant L1041 BLCA-US 21 17250653 17250653 deletion of <=200bp G - frameshift_variant L1079 BLCA-US 21 17250653 17250653 deletion of <=200bp G - frameshift_variant L404 BLCA-US 21 17250767 17250767 single base substitution C T downstream_gene_variant BLCA-US 21 17250767 17250767 single base substitution C T exon_variant BLCA-US 21 17250767 17250767 single base substitution C T synonymous_variant L1047L 3141C>T BLCA-US 21 17250767 17250767 single base substitution C T synonymous_variant L1079L 3237C>T BLCA-US 21 17250767 17250767 single base substitution C T synonymous_variant L1117L 3351C>T BLCA-US 21 17250767 17250767 single base substitution C T synonymous_variant L442L 1326C>T BOCA-UK 21 17222171 17222171 single base substitution C T intron_variant BOCA-UK 21 17222171 17222171 single base substitution C T missense_variant P71S 211C>T BOCA-UK 21 17222171 17222171 single base substitution C T missense_variant P805S 2413C>T BOCA-UK 21 17222171 17222171 single base substitution C T missense_variant P843S 2527C>T BRCA-EU 21 17097872 17097872 single base substitution C G upstream_gene_variant BRCA-EU 21 17097966 17097966 single base substitution C A upstream_gene_variant BRCA-EU 21 17097988 17097988 single base substitution T C upstream_gene_variant BRCA-EU 21 17100332 17100332 single base substitution C T upstream_gene_variant BRCA-EU 21 17101531 17101531 single base substitution G C upstream_gene_variant BRCA-EU 21 17102841 17102841 single base substitution C A intron_variant BRCA-EU 21 17103015 17103015 single base substitution G A intron_variant BRCA-EU 21 17103218 17103218 single base substitution C G intron_variant BRCA-EU 21 17103431 17103431 single base substitution C A intron_variant BRCA-EU 21 17105121 17105121 single base substitution C T intron_variant BRCA-EU 21 17105941 17105941 single base substitution C A intron_variant BRCA-EU 21 17106910 17106910 single base substitution C T intron_variant BRCA-EU 21 17111854 17111854 deletion of <=200bp T - intron_variant BRCA-EU 21 17112719 17112719 deletion of <=200bp T - intron_variant BRCA-EU 21 17114133 17114133 insertion of <=200bp - T intron_variant BRCA-EU 21 17115462 17115462 single base substitution G T intron_variant BRCA-EU 21 17116807 17116807 single base substitution G A intron_variant BRCA-EU 21 17116926 17116926 single base substitution G T intron_variant BRCA-EU 21 17120602 17120602 single base substitution T G intron_variant BRCA-EU 21 17120679 17120679 single base substitution C T intron_variant BRCA-EU 21 17121072 17121072 single base substitution C T intron_variant BRCA-EU 21 17121100 17121100 single base substitution A G intron_variant BRCA-EU 21 17122049 17122053 deletion of <=200bp ATCTT - intron_variant BRCA-EU 21 17123104 17123104 single base substitution T C intron_variant BRCA-EU 21 17123592 17123592 single base substitution G A intron_variant BRCA-EU 21 17124263 17124263 single base substitution T A intron_variant BRCA-EU 21 17124548 17124548 deletion of <=200bp T - intron_variant BRCA-EU 21 17124887 17124887 single base substitution T C intron_variant BRCA-EU 21 17125588 17125588 single base substitution C T intron_variant BRCA-EU 21 17125589 17125589 single base substitution A G intron_variant BRCA-EU 21 17126146 17126146 single base substitution C A intron_variant BRCA-EU 21 17129342 17129342 single base substitution C T intron_variant BRCA-EU 21 17130186 17130186 single base substitution T C intron_variant BRCA-EU 21 17130218 17130218 single base substitution C T intron_variant BRCA-EU 21 17131939 17131939 single base substitution A G intron_variant BRCA-EU 21 17133762 17133762 single base substitution C A intron_variant BRCA-EU 21 17134963 17134963 single base substitution G A intron_variant BRCA-EU 21 17136011 17136011 single base substitution C T intron_variant BRCA-EU 21 17136077 17136077 single base substitution A G intron_variant BRCA-EU 21 17140178 17140178 single base substitution G A intron_variant BRCA-EU 21 17140924 17140924 single base substitution A G intron_variant BRCA-EU 21 17140924 17140924 single base substitution A G upstream_gene_variant BRCA-EU 21 17141220 17141220 single base substitution T C intron_variant BRCA-EU 21 17141220 17141220 single base substitution T C upstream_gene_variant BRCA-EU 21 17141369 17141369 single base substitution G C intron_variant BRCA-EU 21 17141369 17141369 single base substitution G C upstream_gene_variant BRCA-EU 21 17141448 17141448 single base substitution G A intron_variant BRCA-EU 21 17141448 17141448 single base substitution G A upstream_gene_variant BRCA-EU 21 17142782 17142782 single base substitution T C intron_variant BRCA-EU 21 17142782 17142782 single base substitution T C upstream_gene_variant BRCA-EU 21 17144230 17144230 single base substitution A T intron_variant BRCA-EU 21 17144230 17144230 single base substitution A T upstream_gene_variant BRCA-EU 21 17144834 17144834 single base substitution G A intron_variant BRCA-EU 21 17144834 17144834 single base substitution G A upstream_gene_variant BRCA-EU 21 17144853 17144853 single base substitution T C intron_variant BRCA-EU 21 17144853 17144853 single base substitution T C upstream_gene_variant BRCA-EU 21 17145065 17145065 single base substitution G T intron_variant BRCA-EU 21 17145065 17145065 single base substitution G T upstream_gene_variant BRCA-EU 21 17146957 17146957 single base substitution G A intron_variant BRCA-EU 21 17148058 17148058 deletion of <=200bp A - intron_variant BRCA-EU 21 17148185 17148185 deletion of <=200bp T - intron_variant BRCA-EU 21 17148567 17148567 single base substitution A G intron_variant BRCA-EU 21 17149456 17149456 single base substitution C G intron_variant BRCA-EU 21 17150372 17150372 single base substitution G C intron_variant BRCA-EU 21 17151281 17151281 single base substitution C T intron_variant BRCA-EU 21 17152012 17152012 single base substitution G T intron_variant BRCA-EU 21 17152042 17152042 insertion of <=200bp - T intron_variant BRCA-EU 21 17152064 17152064 single base substitution C A intron_variant BRCA-EU 21 17152621 17152621 single base substitution G A intron_variant BRCA-EU 21 17153212 17153212 single base substitution C T intron_variant BRCA-EU 21 17154318 17154318 single base substitution G C intron_variant BRCA-EU 21 17155602 17155602 single base substitution C T intron_variant BRCA-EU 21 17155963 17155963 single base substitution G A intron_variant BRCA-EU 21 17156332 17156332 single base substitution C G intron_variant BRCA-EU 21 17156478 17156478 single base substitution C G intron_variant BRCA-EU 21 17156990 17156990 single base substitution C T intron_variant BRCA-EU 21 17158250 17158250 single base substitution G C intron_variant BRCA-EU 21 17158694 17158694 single base substitution A T intron_variant BRCA-EU 21 17160179 17160179 single base substitution C G intron_variant BRCA-EU 21 17160825 17160825 single base substitution C G intron_variant BRCA-EU 21 17160924 17160924 single base substitution G A intron_variant BRCA-EU 21 17162212 17162212 single base substitution A G intron_variant BRCA-EU 21 17162658 17162658 single base substitution C T intron_variant BRCA-EU 21 17163364 17163364 deletion of <=200bp T - intron_variant BRCA-EU 21 17163410 17163410 single base substitution A G intron_variant BRCA-EU 21 17166620 17166620 single base substitution A G intron_variant BRCA-EU 21 17166772 17166772 single base substitution G A intron_variant BRCA-EU 21 17166976 17166976 single base substitution A G intron_variant BRCA-EU 21 17166976 17166976 single base substitution A G upstream_gene_variant BRCA-EU 21 17167198 17167198 single base substitution T A intron_variant BRCA-EU 21 17167198 17167198 single base substitution T A upstream_gene_variant BRCA-EU 21 17167671 17167671 single base substitution T C intron_variant BRCA-EU 21 17167671 17167671 single base substitution T C upstream_gene_variant BRCA-EU 21 17167769 17167769 insertion of <=200bp - T intron_variant BRCA-EU 21 17167769 17167769 insertion of <=200bp - T upstream_gene_variant BRCA-EU 21 17168222 17168222 single base substitution G T intron_variant BRCA-EU 21 17168222 17168222 single base substitution G T upstream_gene_variant BRCA-EU 21 17169577 17169577 single base substitution C T intron_variant BRCA-EU 21 17169577 17169577 single base substitution C T upstream_gene_variant BRCA-EU 21 17170252 17170252 single base substitution C T intron_variant BRCA-EU 21 17170252 17170252 single base substitution C T upstream_gene_variant BRCA-EU 21 17174296 17174296 single base substitution G A intron_variant BRCA-EU 21 17174810 17174810 single base substitution G C intron_variant BRCA-EU 21 17174938 17174938 single base substitution T C intron_variant BRCA-EU 21 17175003 17175003 single base substitution C T intron_variant BRCA-EU 21 17175215 17175215 single base substitution G T intron_variant BRCA-EU 21 17175647 17175647 single base substitution C A intron_variant BRCA-EU 21 17176209 17176209 single base substitution T C intron_variant BRCA-EU 21 17177113 17177113 single base substitution T A intron_variant BRCA-EU 21 17178427 17178427 single base substitution T A downstream_gene_variant BRCA-EU 21 17178427 17178427 single base substitution T A intron_variant BRCA-EU 21 17179037 17179037 single base substitution C T downstream_gene_variant BRCA-EU 21 17179037 17179037 single base substitution C T intron_variant BRCA-EU 21 17179252 17179252 deletion of <=200bp T - downstream_gene_variant BRCA-EU 21 17179252 17179252 deletion of <=200bp T - intron_variant BRCA-EU 21 17179486 17179486 single base substitution A G downstream_gene_variant BRCA-EU 21 17179486 17179486 single base substitution A G intron_variant BRCA-EU 21 17180349 17180349 deletion of <=200bp A - downstream_gene_variant BRCA-EU 21 17180349 17180349 deletion of <=200bp A - intron_variant BRCA-EU 21 17180716 17180716 single base substitution C G downstream_gene_variant BRCA-EU 21 17180716 17180716 single base substitution C G intron_variant BRCA-EU 21 17182518 17182518 deletion of <=200bp T - downstream_gene_variant BRCA-EU 21 17182518 17182518 deletion of <=200bp T - intron_variant BRCA-EU 21 17183337 17183337 single base substitution C G intron_variant BRCA-EU 21 17184590 17184590 single base substitution C T intron_variant BRCA-EU 21 17184902 17184902 single base substitution G A intron_variant BRCA-EU 21 17184995 17184995 single base substitution C T intron_variant BRCA-EU 21 17185125 17185132 deletion of <=200bp TACTTTCT - intron_variant BRCA-EU 21 17185245 17185245 single base substitution T A intron_variant BRCA-EU 21 17185291 17185291 single base substitution A G intron_variant BRCA-EU 21 17186329 17186329 single base substitution C A intron_variant BRCA-EU 21 17190126 17190126 single base substitution C G intron_variant BRCA-EU 21 17192166 17192166 insertion of <=200bp - T downstream_gene_variant BRCA-EU 21 17192166 17192166 insertion of <=200bp - T intron_variant BRCA-EU 21 17192310 17192310 single base substitution C T downstream_gene_variant BRCA-EU 21 17192310 17192310 single base substitution C T intron_variant BRCA-EU 21 17192397 17192397 single base substitution A G downstream_gene_variant BRCA-EU 21 17192397 17192397 single base substitution A G intron_variant BRCA-EU 21 17192397 17192397 single base substitution A G upstream_gene_variant BRCA-EU 21 17194365 17194365 single base substitution T G downstream_gene_variant BRCA-EU 21 17194365 17194365 single base substitution T G intron_variant BRCA-EU 21 17194365 17194365 single base substitution T G upstream_gene_variant BRCA-EU 21 17196259 17196259 single base substitution A G intron_variant BRCA-EU 21 17196259 17196259 single base substitution A G upstream_gene_variant BRCA-EU 21 17198722 17198722 single base substitution T G intron_variant BRCA-EU 21 17198817 17198817 single base substitution T A intron_variant BRCA-EU 21 17199758 17199758 single base substitution T C intron_variant BRCA-EU 21 17200876 17200876 deletion of <=200bp A - intron_variant BRCA-EU 21 17201304 17201304 single base substitution T C intron_variant BRCA-EU 21 17201539 17201539 single base substitution C T intron_variant BRCA-EU 21 17201974 17201974 single base substitution T A intron_variant BRCA-EU 21 17202132 17202132 single base substitution C A intron_variant BRCA-EU 21 17204711 17204711 deletion of <=200bp T - intron_variant BRCA-EU 21 17204969 17204969 deletion of <=200bp T - intron_variant BRCA-EU 21 17205158 17205158 single base substitution A G intron_variant BRCA-EU 21 17205411 17205411 deletion of <=200bp A - intron_variant BRCA-EU 21 17205801 17205801 single base substitution A G downstream_gene_variant BRCA-EU 21 17205801 17205801 single base substitution A G intron_variant BRCA-EU 21 17205801 17205801 single base substitution A G missense_variant K710E 2128A>G BRCA-EU 21 17207638 17207638 single base substitution C T downstream_gene_variant BRCA-EU 21 17207638 17207638 single base substitution C T intron_variant BRCA-EU 21 17208308 17208308 single base substitution A G downstream_gene_variant BRCA-EU 21 17208308 17208308 single base substitution A G intron_variant BRCA-EU 21 17208831 17208831 single base substitution G T downstream_gene_variant BRCA-EU 21 17208831 17208831 single base substitution G T intron_variant BRCA-EU 21 17208840 17208840 single base substitution A G downstream_gene_variant BRCA-EU 21 17208840 17208840 single base substitution A G intron_variant BRCA-EU 21 17210413 17210413 insertion of <=200bp - T downstream_gene_variant BRCA-EU 21 17210413 17210413 insertion of <=200bp - T intron_variant BRCA-EU 21 17210413 17210413 insertion of <=200bp - T upstream_gene_variant BRCA-EU 21 17211234 17211234 single base substitution A T intron_variant BRCA-EU 21 17211234 17211234 single base substitution A T upstream_gene_variant BRCA-EU 21 17211573 17211573 single base substitution G C intron_variant BRCA-EU 21 17211573 17211573 single base substitution G C upstream_gene_variant BRCA-EU 21 17213586 17213586 single base substitution T G intron_variant BRCA-EU 21 17213586 17213586 single base substitution T G upstream_gene_variant BRCA-EU 21 17213817 17213817 deletion of <=200bp T - intron_variant BRCA-EU 21 17213817 17213817 deletion of <=200bp T - upstream_gene_variant BRCA-EU 21 17214169 17214169 single base substitution G T intron_variant BRCA-EU 21 17214169 17214169 single base substitution G T upstream_gene_variant BRCA-EU 21 17214518 17214518 single base substitution G A intron_variant BRCA-EU 21 17214518 17214518 single base substitution G A upstream_gene_variant BRCA-EU 21 17214606 17214606 single base substitution G A intron_variant BRCA-EU 21 17214606 17214606 single base substitution G A upstream_gene_variant BRCA-EU 21 17215873 17215873 single base substitution A G intron_variant BRCA-EU 21 17218849 17218849 single base substitution C G intron_variant BRCA-EU 21 17220108 17220108 single base substitution G A intron_variant BRCA-EU 21 17221550 17221550 single base substitution T C intron_variant BRCA-EU 21 17227726 17227726 insertion of <=200bp - T intron_variant BRCA-EU 21 17229771 17229771 insertion of <=200bp - A intron_variant BRCA-EU 21 17231420 17231420 single base substitution T C intron_variant BRCA-EU 21 17232378 17232378 single base substitution G A intron_variant BRCA-EU 21 17232707 17232707 deletion of <=200bp C - intron_variant BRCA-EU 21 17232847 17232847 single base substitution C G intron_variant BRCA-EU 21 17235134 17235134 single base substitution T A intron_variant BRCA-EU 21 17236476 17236476 single base substitution C G intron_variant BRCA-EU 21 17236478 17236478 single base substitution A C intron_variant BRCA-EU 21 17236560 17236560 single base substitution A C intron_variant BRCA-EU 21 17237587 17237587 single base substitution C A intron_variant BRCA-EU 21 17237877 17237877 single base substitution G C intron_variant BRCA-EU 21 17238961 17238961 single base substitution A G intron_variant BRCA-EU 21 17239334 17239334 single base substitution C T intron_variant BRCA-EU 21 17239537 17239537 insertion of <=200bp - T intron_variant BRCA-EU 21 17239781 17239781 single base substitution T C intron_variant BRCA-EU 21 17240821 17240821 single base substitution A G intron_variant BRCA-EU 21 17243273 17243273 single base substitution A T intron_variant BRCA-EU 21 17244211 17244211 single base substitution G A intron_variant BRCA-EU 21 17244211 17244211 single base substitution G A upstream_gene_variant BRCA-EU 21 17244560 17244560 single base substitution A G intron_variant BRCA-EU 21 17244560 17244560 single base substitution A G upstream_gene_variant BRCA-EU 21 17250391 17250391 deletion of <=200bp T - downstream_gene_variant BRCA-EU 21 17250391 17250391 deletion of <=200bp T - intron_variant BRCA-EU 21 17251973 17251973 single base substitution C T 3_prime_UTR_variant BRCA-EU 21 17251973 17251973 single base substitution C T downstream_gene_variant BRCA-EU 21 17252693 17252693 single base substitution A T downstream_gene_variant BRCA-EU 21 17252841 17252841 single base substitution C G downstream_gene_variant BRCA-EU 21 17253220 17253220 single base substitution G T downstream_gene_variant BRCA-EU 21 17253510 17253513 deletion of <=200bp TGTT - downstream_gene_variant BRCA-EU 21 17253848 17253848 single base substitution C T downstream_gene_variant BRCA-EU 21 17254837 17254837 single base substitution G C downstream_gene_variant BRCA-EU 21 17254838 17254838 single base substitution A T downstream_gene_variant BRCA-EU 21 17255188 17255188 insertion of <=200bp - T downstream_gene_variant BRCA-EU 21 17255316 17255316 single base substitution C G downstream_gene_variant BRCA-FR 21 17097966 17097966 single base substitution C A upstream_gene_variant BRCA-FR 21 17099095 17099095 single base substitution G A upstream_gene_variant BRCA-FR 21 17106968 17106968 single base substitution C T intron_variant BRCA-FR 21 17117991 17117991 single base substitution C A intron_variant BRCA-FR 21 17123592 17123592 single base substitution G A intron_variant BRCA-FR 21 17129342 17129342 single base substitution C T intron_variant BRCA-FR 21 17130218 17130218 single base substitution C T intron_variant BRCA-FR 21 17144796 17144796 single base substitution A T intron_variant BRCA-FR 21 17144796 17144796 single base substitution A T upstream_gene_variant BRCA-FR 21 17148213 17148213 single base substitution G A intron_variant BRCA-FR 21 17156478 17156478 single base substitution C G intron_variant BRCA-FR 21 17162212 17162212 single base substitution A G intron_variant BRCA-FR 21 17166620 17166620 single base substitution A G intron_variant BRCA-FR 21 17175647 17175647 single base substitution C A intron_variant BRCA-FR 21 17179037 17179037 single base substitution C T downstream_gene_variant BRCA-FR 21 17179037 17179037 single base substitution C T intron_variant BRCA-FR 21 17180716 17180716 single base substitution C G downstream_gene_variant BRCA-FR 21 17180716 17180716 single base substitution C G intron_variant BRCA-FR 21 17184995 17184995 single base substitution C T intron_variant BRCA-FR 21 17192310 17192310 single base substitution C T downstream_gene_variant BRCA-FR 21 17192310 17192310 single base substitution C T intron_variant BRCA-FR 21 17214498 17214498 single base substitution G A intron_variant BRCA-FR 21 17214498 17214498 single base substitution G A upstream_gene_variant BRCA-FR 21 17222333 17222333 single base substitution T A intron_variant BRCA-FR 21 17232847 17232847 single base substitution C G intron_variant BRCA-FR 21 17235277 17235277 single base substitution A G intron_variant BRCA-FR 21 17239334 17239334 single base substitution C T intron_variant BRCA-FR 21 17252841 17252841 single base substitution C G downstream_gene_variant BRCA-FR 21 17253227 17253227 single base substitution C G downstream_gene_variant BRCA-FR 21 17253848 17253848 single base substitution C T downstream_gene_variant BRCA-UK 21 17103912 17103912 single base substitution C T intron_variant BRCA-UK 21 17141220 17141220 single base substitution T C intron_variant BRCA-UK 21 17141220 17141220 single base substitution T C upstream_gene_variant BRCA-UK 21 17155963 17155963 single base substitution G A intron_variant BRCA-UK 21 17172076 17172076 single base substitution T C exon_variant BRCA-UK 21 17172076 17172076 single base substitution T C missense_variant S186P 556T>C BRCA-UK 21 17172076 17172076 single base substitution T C splice_region_variant BRCA-UK 21 17177113 17177113 single base substitution T A intron_variant BRCA-UK 21 17198722 17198722 single base substitution T G intron_variant BRCA-UK 21 17218336 17218336 single base substitution C T intron_variant BRCA-UK 21 17227008 17227008 single base substitution G C intron_variant BRCA-UK 21 17236675 17236675 single base substitution T C intron_variant BRCA-UK 21 17236675 17236675 single base substitution T C missense_variant V107A 320T>C BRCA-UK 21 17236675 17236675 single base substitution T C missense_variant V809A 2426T>C BRCA-UK 21 17236675 17236675 single base substitution T C missense_variant V841A 2522T>C BRCA-UK 21 17236675 17236675 single base substitution T C missense_variant V879A 2636T>C BRCA-UK 21 17255316 17255316 single base substitution C G downstream_gene_variant BRCA-US 21 17150335 17150335 single base substitution A T exon_variant BRCA-US 21 17150335 17150335 single base substitution A T missense_variant Q127H 381A>T BRCA-US 21 17177479 17177479 single base substitution C G exon_variant BRCA-US 21 17177479 17177479 single base substitution C G missense_variant L228V 682C>G BRCA-US 21 17199314 17199314 single base substitution A T intron_variant BRCA-US 21 17199314 17199314 single base substitution A T synonymous_variant G23G 69A>T BRCA-US 21 17199314 17199314 single base substitution A T synonymous_variant G495G 1485A>T BRCA-US 21 17199349 17199349 single base substitution C T intron_variant BRCA-US 21 17199349 17199349 single base substitution C T missense_variant S35L 104C>T BRCA-US 21 17199349 17199349 single base substitution C T missense_variant S507L 1520C>T BRCA-US 21 17203783 17203783 single base substitution G A intron_variant BRCA-US 21 17203783 17203783 single base substitution G A missense_variant A138T 412G>A BRCA-US 21 17203783 17203783 single base substitution G A missense_variant A610T 1828G>A BRCA-US 21 17205712 17205712 single base substitution C A downstream_gene_variant BRCA-US 21 17205712 17205712 single base substitution C A intron_variant BRCA-US 21 17205712 17205712 single base substitution C A missense_variant T680K 2039C>A BRCA-US 21 17242407 17242407 single base substitution G A synonymous_variant R170R 510G>A BRCA-US 21 17242407 17242407 single base substitution G A synonymous_variant R267R 801G>A BRCA-US 21 17242407 17242407 single base substitution G A synonymous_variant R872R 2616G>A BRCA-US 21 17242407 17242407 single base substitution G A synonymous_variant R904R 2712G>A BRCA-US 21 17242407 17242407 single base substitution G A synonymous_variant R942R 2826G>A BRCA-US 21 17246810 17246810 single base substitution G T stop_gained E220* 658G>T BRCA-US 21 17246810 17246810 single base substitution G T stop_gained E317* 949G>T BRCA-US 21 17246810 17246810 single base substitution G T stop_gained E922* 2764G>T BRCA-US 21 17246810 17246810 single base substitution G T stop_gained E954* 2860G>T BRCA-US 21 17246810 17246810 single base substitution G T stop_gained E992* 2974G>T BRCA-US 21 17246810 17246810 single base substitution G T upstream_gene_variant BRCA-US 21 17250132 17250132 single base substitution C A downstream_gene_variant BRCA-US 21 17250132 17250132 single base substitution C A exon_variant BRCA-US 21 17250132 17250132 single base substitution C A synonymous_variant A1009A 3027C>A BRCA-US 21 17250132 17250132 single base substitution C A synonymous_variant A334A 1002C>A BRCA-US 21 17250132 17250132 single base substitution C A synonymous_variant A939A 2817C>A BRCA-US 21 17250132 17250132 single base substitution C A synonymous_variant A971A 2913C>A BRCA-US 21 17250145 17250145 single base substitution G A downstream_gene_variant BRCA-US 21 17250145 17250145 single base substitution G A exon_variant BRCA-US 21 17250145 17250145 single base substitution G A missense_variant E1014K 3040G>A BRCA-US 21 17250145 17250145 single base substitution G A missense_variant E339K 1015G>A BRCA-US 21 17250145 17250145 single base substitution G A missense_variant E944K 2830G>A BRCA-US 21 17250145 17250145 single base substitution G A missense_variant E976K 2926G>A BTCA-JP 21 17138470 17138470 single base substitution C G intron_variant BTCA-JP 21 17199433 17199433 single base substitution C T intron_variant BTCA-JP 21 17199433 17199433 single base substitution C T missense_variant P535L 1604C>T BTCA-JP 21 17199433 17199433 single base substitution C T missense_variant P63L 188C>T BTCA-JP 21 17238539 17238539 single base substitution T C intron_variant BTCA-JP 21 17246935 17246935 single base substitution A T downstream_gene_variant BTCA-JP 21 17246935 17246935 single base substitution A T intron_variant BTCA-JP 21 17246935 17246935 single base substitution A T upstream_gene_variant BTCA-JP 21 17250551 17250551 single base substitution A G downstream_gene_variant BTCA-JP 21 17250551 17250551 single base substitution A G intron_variant CESC-US 21 17246834 17246834 single base substitution G T stop_gained E1000* 2998G>T CESC-US 21 17246834 17246834 single base substitution G T stop_gained E228* 682G>T CESC-US 21 17246834 17246834 single base substitution G T stop_gained E325* 973G>T CESC-US 21 17246834 17246834 single base substitution G T stop_gained E930* 2788G>T CESC-US 21 17246834 17246834 single base substitution G T stop_gained E962* 2884G>T CESC-US 21 17246834 17246834 single base substitution G T upstream_gene_variant CLLE-ES 21 17128063 17128063 single base substitution G A intron_variant CLLE-ES 21 17128626 17128626 single base substitution G A intron_variant CLLE-ES 21 17133556 17133556 single base substitution C G intron_variant CLLE-ES 21 17155166 17155166 single base substitution A T intron_variant CLLE-ES 21 17158868 17158868 single base substitution A G intron_variant CLLE-ES 21 17175848 17175848 single base substitution A G intron_variant CLLE-ES 21 17210907 17210907 deletion of <=200bp A - intron_variant CLLE-ES 21 17210907 17210907 deletion of <=200bp A - upstream_gene_variant CLLE-ES 21 17217277 17217277 single base substitution G A intron_variant CLLE-ES 21 17229880 17229880 single base substitution G T intron_variant COAD-US 21 17150266 17150266 single base substitution A G exon_variant COAD-US 21 17150266 17150266 single base substitution A G synonymous_variant R104R 312A>G COAD-US 21 17150287 17150287 single base substitution C T exon_variant COAD-US 21 17150287 17150287 single base substitution C T synonymous_variant A111A 333C>T COAD-US 21 17163836 17163836 single base substitution C T exon_variant COAD-US 21 17163836 17163836 single base substitution C T synonymous_variant S136S 408C>T COAD-US 21 17172142 17172142 single base substitution G T exon_variant COAD-US 21 17172142 17172142 single base substitution G T missense_variant D208Y 622G>T COAD-US 21 17199433 17199433 single base substitution C T intron_variant COAD-US 21 17199433 17199433 single base substitution C T missense_variant P535L 1604C>T COAD-US 21 17199433 17199433 single base substitution C T missense_variant P63L 188C>T COAD-US 21 17199459 17199459 single base substitution G T intron_variant COAD-US 21 17199459 17199459 single base substitution G T stop_gained E544* 1630G>T COAD-US 21 17199459 17199459 single base substitution G T stop_gained E72* 214G>T COAD-US 21 17203797 17203797 single base substitution T C intron_variant COAD-US 21 17203797 17203797 single base substitution T C synonymous_variant D142D 426T>C COAD-US 21 17203797 17203797 single base substitution T C synonymous_variant D614D 1842T>C COAD-US 21 17205756 17205756 single base substitution C T downstream_gene_variant COAD-US 21 17205756 17205756 single base substitution C T intron_variant COAD-US 21 17205756 17205756 single base substitution C T stop_gained R695* 2083C>T COAD-US 21 17250698 17250698 single base substitution G A downstream_gene_variant COAD-US 21 17250698 17250698 single base substitution G A exon_variant COAD-US 21 17250698 17250698 single base substitution G A synonymous_variant E1024E 3072G>A COAD-US 21 17250698 17250698 single base substitution G A synonymous_variant E1056E 3168G>A COAD-US 21 17250698 17250698 single base substitution G A synonymous_variant E1094E 3282G>A COAD-US 21 17250698 17250698 single base substitution G A synonymous_variant E419E 1257G>A COAD-US 21 17250709 17250709 single base substitution T C downstream_gene_variant COAD-US 21 17250709 17250709 single base substitution T C exon_variant COAD-US 21 17250709 17250709 single base substitution T C missense_variant L1028S 3083T>C COAD-US 21 17250709 17250709 single base substitution T C missense_variant L1060S 3179T>C COAD-US 21 17250709 17250709 single base substitution T C missense_variant L1098S 3293T>C COAD-US 21 17250709 17250709 single base substitution T C missense_variant L423S 1268T>C COCA-CN 21 17102859 17102859 single base substitution G C intron_variant COCA-CN 21 17138464 17138464 single base substitution A C splice_region_variant COCA-CN 21 17150267 17150267 single base substitution G A exon_variant COCA-CN 21 17150267 17150267 single base substitution G A missense_variant A105T 313G>A COCA-CN 21 17163895 17163895 single base substitution G A exon_variant COCA-CN 21 17163895 17163895 single base substitution G A missense_variant R156Q 467G>A COCA-CN 21 17177403 17177403 single base substitution T C intron_variant COCA-CN 21 17177447 17177447 single base substitution G A exon_variant COCA-CN 21 17177447 17177447 single base substitution G A missense_variant R217Q 650G>A COCA-CN 21 17183593 17183593 single base substitution G A intron_variant COCA-CN 21 17186845 17186845 single base substitution T C intron_variant COCA-CN 21 17186881 17186881 single base substitution T A intron_variant COCA-CN 21 17202780 17202780 single base substitution A C intron_variant COCA-CN 21 17202812 17202812 single base substitution T C intron_variant COCA-CN 21 17203730 17203730 single base substitution G A intron_variant COCA-CN 21 17203730 17203730 single base substitution G A missense_variant R120Q 359G>A COCA-CN 21 17203730 17203730 single base substitution G A missense_variant R592Q 1775G>A COCA-CN 21 17236505 17236505 single base substitution G A intron_variant COCA-CN 21 17236649 17236649 single base substitution C T intron_variant COCA-CN 21 17236649 17236649 single base substitution C T synonymous_variant T800T 2400C>T COCA-CN 21 17236649 17236649 single base substitution C T synonymous_variant T832T 2496C>T COCA-CN 21 17236649 17236649 single base substitution C T synonymous_variant T870T 2610C>T COCA-CN 21 17236649 17236649 single base substitution C T synonymous_variant T98T 294C>T COCA-CN 21 17238541 17238541 single base substitution C T intron_variant COCA-CN 21 17242429 17242429 single base substitution T C missense_variant Y178H 532T>C COCA-CN 21 17242429 17242429 single base substitution T C missense_variant Y275H 823T>C COCA-CN 21 17242429 17242429 single base substitution T C missense_variant Y880H 2638T>C COCA-CN 21 17242429 17242429 single base substitution T C missense_variant Y912H 2734T>C COCA-CN 21 17242429 17242429 single base substitution T C missense_variant Y950H 2848T>C COCA-CN 21 17250740 17250740 single base substitution G A downstream_gene_variant COCA-CN 21 17250740 17250740 single base substitution G A exon_variant COCA-CN 21 17250740 17250740 single base substitution G A synonymous_variant E1038E 3114G>A COCA-CN 21 17250740 17250740 single base substitution G A synonymous_variant E1070E 3210G>A COCA-CN 21 17250740 17250740 single base substitution G A synonymous_variant E1108E 3324G>A COCA-CN 21 17250740 17250740 single base substitution G A synonymous_variant E433E 1299G>A EOPC-DE 21 17110163 17110163 single base substitution T C intron_variant EOPC-DE 21 17143631 17143631 single base substitution A G intron_variant EOPC-DE 21 17143631 17143631 single base substitution A G upstream_gene_variant EOPC-DE 21 17160221 17160221 single base substitution A C intron_variant EOPC-DE 21 17209733 17209733 single base substitution G T downstream_gene_variant EOPC-DE 21 17209733 17209733 single base substitution G T intron_variant EOPC-DE 21 17218678 17218678 single base substitution G A intron_variant ESAD-UK 21 17099280 17099280 single base substitution G A upstream_gene_variant ESAD-UK 21 17100402 17100402 single base substitution C T upstream_gene_variant ESAD-UK 21 17101140 17101140 single base substitution T C upstream_gene_variant ESAD-UK 21 17103041 17103041 single base substitution T C intron_variant ESAD-UK 21 17103472 17103472 single base substitution A C intron_variant ESAD-UK 21 17103774 17103774 deletion of <=200bp T - intron_variant ESAD-UK 21 17104113 17104113 single base substitution C T intron_variant ESAD-UK 21 17105535 17105535 single base substitution C A intron_variant ESAD-UK 21 17106169 17106169 insertion of <=200bp - A intron_variant ESAD-UK 21 17108358 17108358 single base substitution C A intron_variant ESAD-UK 21 17110766 17110766 single base substitution C T intron_variant ESAD-UK 21 17111997 17111997 single base substitution T C intron_variant ESAD-UK 21 17113955 17113955 deletion of <=200bp T - intron_variant ESAD-UK 21 17115396 17115396 single base substitution G A intron_variant ESAD-UK 21 17115559 17115559 single base substitution T C intron_variant ESAD-UK 21 17122077 17122077 single base substitution A C intron_variant ESAD-UK 21 17127538 17127538 single base substitution G A intron_variant ESAD-UK 21 17127604 17127604 single base substitution A G intron_variant ESAD-UK 21 17128121 17128121 deletion of <=200bp A - intron_variant ESAD-UK 21 17131062 17131062 single base substitution G A intron_variant ESAD-UK 21 17132972 17132972 single base substitution T A intron_variant ESAD-UK 21 17134398 17134398 single base substitution T C intron_variant ESAD-UK 21 17134798 17134798 single base substitution G A intron_variant ESAD-UK 21 17135372 17135372 deletion of <=200bp G - intron_variant ESAD-UK 21 17135974 17135974 single base substitution G C intron_variant ESAD-UK 21 17137527 17137527 single base substitution C A intron_variant ESAD-UK 21 17139947 17139947 single base substitution T A intron_variant ESAD-UK 21 17140868 17140868 single base substitution C G intron_variant ESAD-UK 21 17140868 17140868 single base substitution C G upstream_gene_variant ESAD-UK 21 17142082 17142082 single base substitution G A intron_variant ESAD-UK 21 17142082 17142082 single base substitution G A upstream_gene_variant ESAD-UK 21 17142744 17142744 single base substitution G T intron_variant ESAD-UK 21 17142744 17142744 single base substitution G T upstream_gene_variant ESAD-UK 21 17142874 17142874 single base substitution C T intron_variant ESAD-UK 21 17142874 17142874 single base substitution C T upstream_gene_variant ESAD-UK 21 17146456 17146456 single base substitution C T intron_variant ESAD-UK 21 17147207 17147207 single base substitution T G intron_variant ESAD-UK 21 17149554 17149554 single base substitution G A intron_variant ESAD-UK 21 17150808 17150808 single base substitution C T intron_variant ESAD-UK 21 17152164 17152164 single base substitution C T intron_variant ESAD-UK 21 17155723 17155723 single base substitution C G intron_variant ESAD-UK 21 17156667 17156667 single base substitution G A intron_variant ESAD-UK 21 17157421 17157421 single base substitution C A intron_variant ESAD-UK 21 17159458 17159458 single base substitution T C intron_variant ESAD-UK 21 17160139 17160139 single base substitution G A intron_variant ESAD-UK 21 17163756 17163756 single base substitution A C intron_variant ESAD-UK 21 17164513 17164513 single base substitution T G intron_variant ESAD-UK 21 17164561 17164561 single base substitution T A intron_variant ESAD-UK 21 17164650 17164650 single base substitution C T intron_variant ESAD-UK 21 17166850 17166850 single base substitution G A intron_variant ESAD-UK 21 17167636 17167636 single base substitution C A intron_variant ESAD-UK 21 17167636 17167636 single base substitution C A upstream_gene_variant ESAD-UK 21 17170534 17170534 single base substitution A T intron_variant ESAD-UK 21 17170534 17170534 single base substitution A T upstream_gene_variant ESAD-UK 21 17176728 17176728 single base substitution G T intron_variant ESAD-UK 21 17177764 17177764 single base substitution G A exon_variant ESAD-UK 21 17177764 17177764 single base substitution G A intron_variant ESAD-UK 21 17178809 17178809 single base substitution T G downstream_gene_variant ESAD-UK 21 17178809 17178809 single base substitution T G intron_variant ESAD-UK 21 17179108 17179108 deletion of <=200bp T - downstream_gene_variant ESAD-UK 21 17179108 17179108 deletion of <=200bp T - intron_variant ESAD-UK 21 17179466 17179466 single base substitution C T downstream_gene_variant ESAD-UK 21 17179466 17179466 single base substitution C T intron_variant ESAD-UK 21 17179605 17179605 single base substitution T C downstream_gene_variant ESAD-UK 21 17179605 17179605 single base substitution T C intron_variant ESAD-UK 21 17184450 17184450 single base substitution A G intron_variant ESAD-UK 21 17185685 17185685 single base substitution C T intron_variant ESAD-UK 21 17188510 17188510 single base substitution G T intron_variant ESAD-UK 21 17188595 17188595 single base substitution G T intron_variant ESAD-UK 21 17191425 17191425 single base substitution T G downstream_gene_variant ESAD-UK 21 17191425 17191425 single base substitution T G intron_variant ESAD-UK 21 17194390 17194390 single base substitution A G downstream_gene_variant ESAD-UK 21 17194390 17194390 single base substitution A G intron_variant ESAD-UK 21 17194390 17194390 single base substitution A G upstream_gene_variant ESAD-UK 21 17202794 17202794 single base substitution C T intron_variant ESAD-UK 21 17203037 17203037 single base substitution A T intron_variant ESAD-UK 21 17203704 17203704 deletion of <=200bp T - intron_variant ESAD-UK 21 17204528 17204528 single base substitution C G intron_variant ESAD-UK 21 17206143 17206143 single base substitution G T downstream_gene_variant ESAD-UK 21 17206143 17206143 single base substitution G T intron_variant ESAD-UK 21 17208335 17208335 single base substitution C T downstream_gene_variant ESAD-UK 21 17208335 17208335 single base substitution C T intron_variant ESAD-UK 21 17208390 17208390 single base substitution C T downstream_gene_variant ESAD-UK 21 17208390 17208390 single base substitution C T intron_variant ESAD-UK 21 17208606 17208606 single base substitution A T downstream_gene_variant ESAD-UK 21 17208606 17208606 single base substitution A T intron_variant ESAD-UK 21 17210339 17210339 single base substitution G A downstream_gene_variant ESAD-UK 21 17210339 17210339 single base substitution G A intron_variant ESAD-UK 21 17210339 17210339 single base substitution G A upstream_gene_variant ESAD-UK 21 17210389 17210389 single base substitution G T downstream_gene_variant ESAD-UK 21 17210389 17210389 single base substitution G T intron_variant ESAD-UK 21 17210389 17210389 single base substitution G T upstream_gene_variant ESAD-UK 21 17212716 17212716 insertion of <=200bp - T intron_variant ESAD-UK 21 17212716 17212716 insertion of <=200bp - T upstream_gene_variant ESAD-UK 21 17213817 17213817 deletion of <=200bp T - intron_variant ESAD-UK 21 17213817 17213817 deletion of <=200bp T - upstream_gene_variant ESAD-UK 21 17214757 17214757 single base substitution A T intron_variant ESAD-UK 21 17214757 17214757 single base substitution A T synonymous_variant S745S 2235A>T ESAD-UK 21 17214757 17214757 single base substitution A T upstream_gene_variant ESAD-UK 21 17216559 17216559 single base substitution G T intron_variant ESAD-UK 21 17218993 17218993 single base substitution C G intron_variant ESAD-UK 21 17219721 17219721 single base substitution C T intron_variant ESAD-UK 21 17223316 17223316 insertion of <=200bp - T intron_variant ESAD-UK 21 17224791 17224791 single base substitution T C intron_variant ESAD-UK 21 17225644 17225644 single base substitution G A intron_variant ESAD-UK 21 17228124 17228124 single base substitution C T intron_variant ESAD-UK 21 17237324 17237324 single base substitution T C intron_variant ESAD-UK 21 17239537 17239537 insertion of <=200bp - T intron_variant ESAD-UK 21 17240036 17240036 deletion of <=200bp A - intron_variant ESAD-UK 21 17240283 17240283 single base substitution G T intron_variant ESAD-UK 21 17241300 17241300 single base substitution A T intron_variant ESAD-UK 21 17245842 17245842 single base substitution C T intron_variant ESAD-UK 21 17245842 17245842 single base substitution C T upstream_gene_variant ESAD-UK 21 17247080 17247080 single base substitution C T downstream_gene_variant ESAD-UK 21 17247080 17247080 single base substitution C T intron_variant ESAD-UK 21 17247080 17247080 single base substitution C T upstream_gene_variant ESAD-UK 21 17251230 17251230 single base substitution A T 3_prime_UTR_variant ESAD-UK 21 17251230 17251230 single base substitution A T downstream_gene_variant ESAD-UK 21 17251230 17251230 single base substitution A T exon_variant ESAD-UK 21 17254389 17254389 single base substitution C T downstream_gene_variant ESAD-UK 21 17255334 17255334 single base substitution G A downstream_gene_variant ESCA-CN 21 17115525 17115525 single base substitution C T intron_variant ESCA-CN 21 17198567 17198567 single base substitution A C intron_variant ESCA-CN 21 17198567 17198567 single base substitution A C missense_variant D450A 1349A>C ESCA-CN 21 17250173 17250173 single base substitution A G downstream_gene_variant ESCA-CN 21 17250173 17250173 single base substitution A G exon_variant ESCA-CN 21 17250173 17250173 single base substitution A G missense_variant N1023S 3068A>G ESCA-CN 21 17250173 17250173 single base substitution A G missense_variant N348S 1043A>G ESCA-CN 21 17250173 17250173 single base substitution A G missense_variant N953S 2858A>G ESCA-CN 21 17250173 17250173 single base substitution A G missense_variant N985S 2954A>G GBM-US 21 17199405 17199405 single base substitution C T intron_variant GBM-US 21 17199405 17199405 single base substitution C T missense_variant R526W 1576C>T GBM-US 21 17199405 17199405 single base substitution C T missense_variant R54W 160C>T KIRC-US 21 17197352 17197352 single base substitution C G intron_variant KIRC-US 21 17197352 17197352 single base substitution C G missense_variant L426V 1276C>G KIRC-US 21 17197352 17197352 single base substitution C G missense_variant L8V 22C>G KIRC-US 21 17205757 17205757 single base substitution G A downstream_gene_variant KIRC-US 21 17205757 17205757 single base substitution G A intron_variant KIRC-US 21 17205757 17205757 single base substitution G A missense_variant R695Q 2084G>A KIRC-US 21 17246743 17246743 single base substitution C T synonymous_variant F197F 591C>T KIRC-US 21 17246743 17246743 single base substitution C T synonymous_variant F294F 882C>T KIRC-US 21 17246743 17246743 single base substitution C T synonymous_variant F899F 2697C>T KIRC-US 21 17246743 17246743 single base substitution C T synonymous_variant F931F 2793C>T KIRC-US 21 17246743 17246743 single base substitution C T synonymous_variant F969F 2907C>T KIRC-US 21 17246743 17246743 single base substitution C T upstream_gene_variant KIRP-US 21 17138432 17138432 single base substitution C G stop_gained Y80* 240C>G LAML-KR 21 17124799 17124799 single base substitution C T intron_variant LAML-KR 21 17143631 17143631 single base substitution A G intron_variant LAML-KR 21 17143631 17143631 single base substitution A G upstream_gene_variant LAML-KR 21 17208789 17208789 single base substitution T G downstream_gene_variant LAML-KR 21 17208789 17208789 single base substitution T G intron_variant LAML-KR 21 17208840 17208840 single base substitution A G downstream_gene_variant LAML-KR 21 17208840 17208840 single base substitution A G intron_variant LAML-KR 21 17209111 17209111 single base substitution A C downstream_gene_variant LAML-KR 21 17209111 17209111 single base substitution A C intron_variant LAML-KR 21 17209159 17209159 single base substitution T G downstream_gene_variant LAML-KR 21 17209159 17209159 single base substitution T G intron_variant LAML-KR 21 17209323 17209323 single base substitution T G downstream_gene_variant LAML-KR 21 17209323 17209323 single base substitution T G intron_variant LAML-KR 21 17209685 17209685 single base substitution A C downstream_gene_variant LAML-KR 21 17209685 17209685 single base substitution A C intron_variant LAML-KR 21 17221986 17221986 single base substitution G A intron_variant LAML-KR 21 17228942 17228942 single base substitution T C intron_variant LGG-US 21 17238647 17238647 single base substitution A G intron_variant LGG-US 21 17238647 17238647 single base substitution A G missense_variant N158S 473A>G LGG-US 21 17238647 17238647 single base substitution A G missense_variant N860S 2579A>G LGG-US 21 17238647 17238647 single base substitution A G missense_variant N892S 2675A>G LGG-US 21 17238647 17238647 single base substitution A G missense_variant N930S 2789A>G LGG-US 21 17246819 17246819 single base substitution T C missense_variant S223P 667T>C LGG-US 21 17246819 17246819 single base substitution T C missense_variant S320P 958T>C LGG-US 21 17246819 17246819 single base substitution T C missense_variant S925P 2773T>C LGG-US 21 17246819 17246819 single base substitution T C missense_variant S957P 2869T>C LGG-US 21 17246819 17246819 single base substitution T C missense_variant S995P 2983T>C LGG-US 21 17246819 17246819 single base substitution T C upstream_gene_variant LGG-US 21 17250117 17250117 single base substitution A G downstream_gene_variant LGG-US 21 17250117 17250117 single base substitution A G exon_variant LGG-US 21 17250117 17250117 single base substitution A G splice_region_variant LICA-CN 21 17196476 17196476 single base substitution A G intron_variant LICA-CN 21 17196476 17196476 single base substitution A G missense_variant Y400C 1199A>G LICA-CN 21 17196476 17196476 single base substitution A G upstream_gene_variant LICA-CN 21 17214862 17214862 single base substitution A T intron_variant LICA-CN 21 17214862 17214862 single base substitution A T splice_region_variant LICA-CN 21 17246719 17246719 single base substitution A T intron_variant LICA-CN 21 17246719 17246719 single base substitution A T splice_region_variant LICA-CN 21 17246719 17246719 single base substitution A T upstream_gene_variant LICA-FR 21 17101411 17101411 single base substitution A G upstream_gene_variant LICA-FR 21 17105313 17105313 single base substitution G C intron_variant LICA-FR 21 17126004 17126004 single base substitution C G intron_variant LICA-FR 21 17128221 17128221 insertion of <=200bp - T intron_variant LICA-FR 21 17149609 17149609 single base substitution A G intron_variant LICA-FR 21 17162970 17162970 deletion of <=200bp T - intron_variant LICA-FR 21 17170398 17170398 single base substitution T C intron_variant LICA-FR 21 17170398 17170398 single base substitution T C upstream_gene_variant LICA-FR 21 17170408 17170408 single base substitution T C intron_variant LICA-FR 21 17170408 17170408 single base substitution T C upstream_gene_variant LICA-FR 21 17176658 17176658 single base substitution A G intron_variant LICA-FR 21 17181283 17181283 single base substitution G A downstream_gene_variant LICA-FR 21 17181283 17181283 single base substitution G A intron_variant LICA-FR 21 17183517 17183517 single base substitution G A exon_variant LICA-FR 21 17183517 17183517 single base substitution G A intron_variant LICA-FR 21 17183517 17183517 single base substitution G A missense_variant G307R 919G>A LICA-FR 21 17214800 17214800 single base substitution A G intron_variant LICA-FR 21 17214800 17214800 single base substitution A G missense_variant I760V 2278A>G LICA-FR 21 17214800 17214800 single base substitution A G upstream_gene_variant LICA-FR 21 17237844 17237844 single base substitution T C intron_variant LICA-FR 21 17240703 17240703 single base substitution G A intron_variant LICA-FR 21 17244532 17244532 single base substitution A T intron_variant LICA-FR 21 17244532 17244532 single base substitution A T upstream_gene_variant LICA-FR 21 17249199 17249199 single base substitution A G downstream_gene_variant LICA-FR 21 17249199 17249199 single base substitution A G exon_variant LICA-FR 21 17249199 17249199 single base substitution A G intron_variant LIHC-US 21 17163836 17163836 single base substitution C T exon_variant LIHC-US 21 17163836 17163836 single base substitution C T synonymous_variant S136S 408C>T LIHC-US 21 17196476 17196476 single base substitution A G intron_variant LIHC-US 21 17196476 17196476 single base substitution A G missense_variant Y400C 1199A>G LIHC-US 21 17196476 17196476 single base substitution A G upstream_gene_variant LIHC-US 21 17197365 17197365 single base substitution A G intron_variant LIHC-US 21 17197365 17197365 single base substitution A G missense_variant Q12R 35A>G LIHC-US 21 17197365 17197365 single base substitution A G missense_variant Q430R 1289A>G LIHC-US 21 17250204 17250204 single base substitution C T downstream_gene_variant LIHC-US 21 17250204 17250204 single base substitution C T exon_variant LIHC-US 21 17250204 17250204 single base substitution C T synonymous_variant V1033V 3099C>T LIHC-US 21 17250204 17250204 single base substitution C T synonymous_variant V358V 1074C>T LIHC-US 21 17250204 17250204 single base substitution C T synonymous_variant V963V 2889C>T LIHC-US 21 17250204 17250204 single base substitution C T synonymous_variant V995V 2985C>T LINC-JP 21 17098638 17098638 single base substitution T C upstream_gene_variant LINC-JP 21 17100680 17100680 single base substitution A G upstream_gene_variant LINC-JP 21 17105704 17105704 single base substitution A G intron_variant LINC-JP 21 17105893 17105893 single base substitution C T intron_variant LINC-JP 21 17123725 17123725 single base substitution A G intron_variant LINC-JP 21 17133071 17133071 single base substitution A T intron_variant LINC-JP 21 17135076 17135076 single base substitution T C intron_variant LINC-JP 21 17143519 17143519 single base substitution A G intron_variant LINC-JP 21 17143519 17143519 single base substitution A G upstream_gene_variant LINC-JP 21 17151071 17151071 single base substitution G T intron_variant LINC-JP 21 17158407 17158407 single base substitution T G intron_variant LINC-JP 21 17160488 17160488 deletion of <=200bp T - intron_variant LINC-JP 21 17164264 17164264 single base substitution A G intron_variant LINC-JP 21 17164318 17164318 single base substitution A G intron_variant LINC-JP 21 17197356 17197356 single base substitution C T intron_variant LINC-JP 21 17197356 17197356 single base substitution C T missense_variant T427M 1280C>T LINC-JP 21 17197356 17197356 single base substitution C T missense_variant T9M 26C>T LINC-JP 21 17198708 17198708 single base substitution A G intron_variant LINC-JP 21 17203352 17203352 single base substitution T A intron_variant LINC-JP 21 17203755 17203755 single base substitution A C intron_variant LINC-JP 21 17203755 17203755 single base substitution A C missense_variant E128D 384A>C LINC-JP 21 17203755 17203755 single base substitution A C missense_variant E600D 1800A>C LINC-JP 21 17205548 17205548 single base substitution G A intron_variant LINC-JP 21 17218059 17218059 single base substitution C T intron_variant LINC-JP 21 17236670 17236670 single base substitution A G intron_variant LINC-JP 21 17236670 17236670 single base substitution A G synonymous_variant V105V 315A>G LINC-JP 21 17236670 17236670 single base substitution A G synonymous_variant V807V 2421A>G LINC-JP 21 17236670 17236670 single base substitution A G synonymous_variant V839V 2517A>G LINC-JP 21 17236670 17236670 single base substitution A G synonymous_variant V877V 2631A>G LINC-JP 21 17238722 17238722 single base substitution T A intron_variant LINC-JP 21 17251355 17251355 single base substitution A G 3_prime_UTR_variant LINC-JP 21 17251355 17251355 single base substitution A G downstream_gene_variant LINC-JP 21 17251620 17251620 single base substitution A G 3_prime_UTR_variant LINC-JP 21 17251620 17251620 single base substitution A G downstream_gene_variant LIRI-JP 21 17098544 17098544 single base substitution C T upstream_gene_variant LIRI-JP 21 17103134 17103140 deletion of <=200bp AGGTAGT - intron_variant LIRI-JP 21 17104205 17104205 single base substitution A G intron_variant LIRI-JP 21 17113021 17113021 single base substitution A G intron_variant LIRI-JP 21 17113351 17113351 single base substitution A G intron_variant LIRI-JP 21 17114073 17114073 single base substitution A C intron_variant LIRI-JP 21 17114301 17114301 single base substitution G A intron_variant LIRI-JP 21 17117853 17117853 single base substitution G A intron_variant LIRI-JP 21 17119080 17119080 single base substitution A G intron_variant LIRI-JP 21 17119685 17119685 single base substitution T C intron_variant LIRI-JP 21 17121460 17121460 single base substitution A G intron_variant LIRI-JP 21 17121997 17122000 deletion of <=200bp TAAA - intron_variant LIRI-JP 21 17122137 17122137 insertion of <=200bp - GC intron_variant LIRI-JP 21 17125350 17125350 single base substitution T C intron_variant LIRI-JP 21 17126377 17126377 single base substitution A G intron_variant LIRI-JP 21 17126887 17126887 single base substitution G T intron_variant LIRI-JP 21 17127937 17127937 single base substitution G T intron_variant LIRI-JP 21 17128299 17128299 single base substitution A G intron_variant LIRI-JP 21 17130744 17130744 single base substitution A G intron_variant LIRI-JP 21 17132572 17132572 single base substitution C T intron_variant LIRI-JP 21 17133188 17133188 single base substitution A T intron_variant LIRI-JP 21 17133667 17133667 single base substitution A G intron_variant LIRI-JP 21 17134054 17134054 single base substitution A G intron_variant LIRI-JP 21 17136464 17136464 single base substitution A G intron_variant LIRI-JP 21 17137010 17137010 single base substitution A G intron_variant LIRI-JP 21 17137804 17137804 single base substitution A G intron_variant LIRI-JP 21 17138528 17138528 single base substitution A T intron_variant LIRI-JP 21 17139793 17139793 single base substitution A G intron_variant LIRI-JP 21 17140593 17140593 single base substitution T G intron_variant LIRI-JP 21 17140593 17140593 single base substitution T G upstream_gene_variant LIRI-JP 21 17141934 17141934 single base substitution A G intron_variant LIRI-JP 21 17141934 17141934 single base substitution A G upstream_gene_variant LIRI-JP 21 17143049 17143049 single base substitution A G intron_variant LIRI-JP 21 17143049 17143049 single base substitution A G upstream_gene_variant LIRI-JP 21 17144759 17144759 single base substitution A C intron_variant LIRI-JP 21 17144759 17144759 single base substitution A C upstream_gene_variant LIRI-JP 21 17146240 17146240 single base substitution A G intron_variant LIRI-JP 21 17146502 17146502 single base substitution G C intron_variant LIRI-JP 21 17147663 17147663 single base substitution A T intron_variant LIRI-JP 21 17151205 17151205 single base substitution C G intron_variant LIRI-JP 21 17151548 17151548 deletion of <=200bp G - intron_variant LIRI-JP 21 17152552 17152552 insertion of <=200bp - T intron_variant LIRI-JP 21 17153307 17153307 single base substitution A G intron_variant LIRI-JP 21 17153493 17153493 single base substitution G C intron_variant LIRI-JP 21 17156244 17156244 single base substitution G T intron_variant LIRI-JP 21 17157214 17157214 single base substitution A G intron_variant LIRI-JP 21 17158280 17158280 single base substitution A G intron_variant LIRI-JP 21 17159567 17159567 single base substitution A G intron_variant LIRI-JP 21 17161368 17161368 single base substitution A G intron_variant LIRI-JP 21 17162436 17162459 deletion of <=200bp ATATTCTTTGGTTTTCCTCTGCCC - intron_variant LIRI-JP 21 17164477 17164477 single base substitution A G intron_variant LIRI-JP 21 17164850 17164850 single base substitution A G intron_variant LIRI-JP 21 17168971 17168971 single base substitution A G intron_variant LIRI-JP 21 17168971 17168971 single base substitution A G upstream_gene_variant LIRI-JP 21 17168978 17168978 single base substitution T G intron_variant LIRI-JP 21 17168978 17168978 single base substitution T G upstream_gene_variant LIRI-JP 21 17170242 17170242 single base substitution T C intron_variant LIRI-JP 21 17170242 17170242 single base substitution T C upstream_gene_variant LIRI-JP 21 17176406 17176406 single base substitution A T intron_variant LIRI-JP 21 17176642 17176642 single base substitution A G intron_variant LIRI-JP 21 17176711 17176711 single base substitution A G intron_variant LIRI-JP 21 17181398 17181398 single base substitution A G downstream_gene_variant LIRI-JP 21 17181398 17181398 single base substitution A G intron_variant LIRI-JP 21 17181828 17181828 single base substitution G T downstream_gene_variant LIRI-JP 21 17181828 17181828 single base substitution G T intron_variant LIRI-JP 21 17182416 17182416 single base substitution T C downstream_gene_variant LIRI-JP 21 17182416 17182416 single base substitution T C intron_variant LIRI-JP 21 17182688 17182688 single base substitution A G downstream_gene_variant LIRI-JP 21 17182688 17182688 single base substitution A G intron_variant LIRI-JP 21 17183794 17183794 single base substitution T A intron_variant LIRI-JP 21 17188257 17188257 single base substitution A G intron_variant LIRI-JP 21 17189287 17189287 single base substitution C T intron_variant LIRI-JP 21 17194229 17194229 single base substitution A G downstream_gene_variant LIRI-JP 21 17194229 17194229 single base substitution A G intron_variant LIRI-JP 21 17194229 17194229 single base substitution A G upstream_gene_variant LIRI-JP 21 17196999 17196999 single base substitution G A intron_variant LIRI-JP 21 17196999 17196999 single base substitution G A upstream_gene_variant LIRI-JP 21 17199980 17199980 single base substitution A G intron_variant LIRI-JP 21 17200037 17200037 single base substitution A G intron_variant LIRI-JP 21 17201315 17201315 single base substitution T G intron_variant LIRI-JP 21 17203589 17203589 single base substitution C A intron_variant LIRI-JP 21 17203947 17203947 single base substitution A C intron_variant LIRI-JP 21 17203947 17203947 single base substitution A C missense_variant Q192H 576A>C LIRI-JP 21 17203947 17203947 single base substitution A C missense_variant Q664H 1992A>C LIRI-JP 21 17204140 17204140 single base substitution G A intron_variant LIRI-JP 21 17204435 17204435 single base substitution A G intron_variant LIRI-JP 21 17204741 17204741 single base substitution G A intron_variant LIRI-JP 21 17204767 17204767 single base substitution G T intron_variant LIRI-JP 21 17204923 17204923 single base substitution A C intron_variant LIRI-JP 21 17205078 17205078 single base substitution C T intron_variant LIRI-JP 21 17215961 17215961 single base substitution T C intron_variant LIRI-JP 21 17216436 17216436 single base substitution C G intron_variant LIRI-JP 21 17216588 17216588 single base substitution A G intron_variant LIRI-JP 21 17220956 17220956 single base substitution G A intron_variant LIRI-JP 21 17221201 17221201 single base substitution G T intron_variant LIRI-JP 21 17221502 17221502 single base substitution A G intron_variant LIRI-JP 21 17224259 17224259 single base substitution G T intron_variant LIRI-JP 21 17227125 17227125 single base substitution G A intron_variant LIRI-JP 21 17228203 17228203 single base substitution G T intron_variant LIRI-JP 21 17230249 17230249 insertion of <=200bp - T intron_variant LIRI-JP 21 17231440 17231440 single base substitution A G intron_variant LIRI-JP 21 17233713 17233713 single base substitution A G intron_variant LIRI-JP 21 17235305 17235305 single base substitution A G intron_variant LIRI-JP 21 17235816 17235816 single base substitution A G intron_variant LIRI-JP 21 17237614 17237614 single base substitution A G intron_variant LIRI-JP 21 17240057 17240057 single base substitution A G intron_variant LIRI-JP 21 17241108 17241108 single base substitution A T intron_variant LIRI-JP 21 17242737 17242737 single base substitution A G intron_variant LIRI-JP 21 17243639 17243639 single base substitution A T intron_variant LIRI-JP 21 17243639 17243639 single base substitution A T upstream_gene_variant LIRI-JP 21 17244910 17244910 single base substitution T A intron_variant LIRI-JP 21 17244910 17244910 single base substitution T A upstream_gene_variant LIRI-JP 21 17246666 17246666 single base substitution C G intron_variant LIRI-JP 21 17246666 17246666 single base substitution C G upstream_gene_variant LIRI-JP 21 17247415 17247415 single base substitution T G downstream_gene_variant LIRI-JP 21 17247415 17247415 single base substitution T G intron_variant LIRI-JP 21 17247415 17247415 single base substitution T G upstream_gene_variant LIRI-JP 21 17249225 17249225 single base substitution A G downstream_gene_variant LIRI-JP 21 17249225 17249225 single base substitution A G exon_variant LIRI-JP 21 17249225 17249225 single base substitution A G intron_variant LIRI-JP 21 17250482 17250482 single base substitution G A downstream_gene_variant LIRI-JP 21 17250482 17250482 single base substitution G A intron_variant LIRI-JP 21 17250777 17250777 deletion of <=200bp C - downstream_gene_variant LIRI-JP 21 17250777 17250777 deletion of <=200bp C - exon_variant LIRI-JP 21 17250777 17250777 deletion of <=200bp C - frameshift_variant P1051 LIRI-JP 21 17250777 17250777 deletion of <=200bp C - frameshift_variant P1083 LIRI-JP 21 17250777 17250777 deletion of <=200bp C - frameshift_variant P1121 LIRI-JP 21 17250777 17250777 deletion of <=200bp C - frameshift_variant P446 LIRI-JP 21 17254823 17254823 single base substitution A G downstream_gene_variant LIRI-JP 21 17256430 17256430 insertion of <=200bp - GG downstream_gene_variant LUSC-KR 21 17100027 17100027 single base substitution G T upstream_gene_variant LUSC-KR 21 17108435 17108435 single base substitution G T intron_variant LUSC-KR 21 17108904 17108904 single base substitution C T intron_variant LUSC-KR 21 17121254 17121254 single base substitution T C intron_variant LUSC-KR 21 17122543 17122543 single base substitution T G intron_variant LUSC-KR 21 17124620 17124620 single base substitution C T intron_variant LUSC-KR 21 17133400 17133400 single base substitution A G intron_variant LUSC-KR 21 17135372 17135372 single base substitution G T intron_variant LUSC-KR 21 17135423 17135423 single base substitution A G intron_variant LUSC-KR 21 17148069 17148069 single base substitution C G intron_variant LUSC-KR 21 17150897 17150897 single base substitution G T intron_variant LUSC-KR 21 17150899 17150899 single base substitution T A intron_variant LUSC-KR 21 17156265 17156265 single base substitution G T intron_variant LUSC-KR 21 17159262 17159262 single base substitution C G intron_variant LUSC-KR 21 17177595 17177595 single base substitution A C exon_variant LUSC-KR 21 17177595 17177595 single base substitution A C intron_variant LUSC-KR 21 17184378 17184378 single base substitution G T intron_variant LUSC-KR 21 17188487 17188487 single base substitution G A intron_variant LUSC-KR 21 17190974 17190974 single base substitution A G intron_variant LUSC-KR 21 17193101 17193101 single base substitution A G downstream_gene_variant LUSC-KR 21 17193101 17193101 single base substitution A G intron_variant LUSC-KR 21 17193101 17193101 single base substitution A G upstream_gene_variant LUSC-KR 21 17198541 17198541 single base substitution C T intron_variant LUSC-KR 21 17198541 17198541 single base substitution C T synonymous_variant S441S 1323C>T LUSC-KR 21 17199289 17199289 single base substitution G A intron_variant LUSC-KR 21 17199289 17199289 single base substitution G A splice_region_variant LUSC-KR 21 17202780 17202780 single base substitution A C intron_variant LUSC-KR 21 17202812 17202812 single base substitution T C intron_variant LUSC-KR 21 17203785 17203785 single base substitution A T intron_variant LUSC-KR 21 17203785 17203785 single base substitution A T synonymous_variant A138A 414A>T LUSC-KR 21 17203785 17203785 single base substitution A T synonymous_variant A610A 1830A>T LUSC-KR 21 17208831 17208831 single base substitution G T downstream_gene_variant LUSC-KR 21 17208831 17208831 single base substitution G T intron_variant LUSC-KR 21 17210071 17210071 single base substitution G A downstream_gene_variant LUSC-KR 21 17210071 17210071 single base substitution G A intron_variant LUSC-KR 21 17210071 17210071 single base substitution G A upstream_gene_variant LUSC-KR 21 17211590 17211590 single base substitution A G intron_variant LUSC-KR 21 17211590 17211590 single base substitution A G upstream_gene_variant LUSC-KR 21 17212847 17212847 single base substitution C A intron_variant LUSC-KR 21 17212847 17212847 single base substitution C A upstream_gene_variant LUSC-KR 21 17214432 17214432 single base substitution G C intron_variant LUSC-KR 21 17214432 17214432 single base substitution G C upstream_gene_variant LUSC-KR 21 17221687 17221687 single base substitution A G intron_variant LUSC-KR 21 17224546 17224546 single base substitution C G intron_variant LUSC-KR 21 17224808 17224808 single base substitution T C intron_variant LUSC-KR 21 17231174 17231174 single base substitution T C intron_variant LUSC-KR 21 17233027 17233027 single base substitution A G intron_variant LUSC-KR 21 17236449 17236449 single base substitution A G intron_variant LUSC-KR 21 17238541 17238541 single base substitution C A intron_variant LUSC-KR 21 17241307 17241307 single base substitution T C intron_variant LUSC-KR 21 17242234 17242234 single base substitution A G intron_variant LUSC-KR 21 17248363 17248363 single base substitution G T downstream_gene_variant LUSC-KR 21 17248363 17248363 single base substitution G T exon_variant LUSC-KR 21 17248363 17248363 single base substitution G T intron_variant LUSC-US 21 17138410 17138410 single base substitution C A missense_variant A73E 218C>A LUSC-US 21 17163870 17163870 single base substitution C T exon_variant LUSC-US 21 17163870 17163870 single base substitution C T missense_variant P148S 442C>T LUSC-US 21 17191131 17191131 single base substitution T C downstream_gene_variant LUSC-US 21 17191131 17191131 single base substitution T C intron_variant LUSC-US 21 17191131 17191131 single base substitution T C missense_variant L349S 1046T>C LUSC-US 21 17197357 17197357 single base substitution G A intron_variant LUSC-US 21 17197357 17197357 single base substitution G A synonymous_variant T427T 1281G>A LUSC-US 21 17197357 17197357 single base substitution G A synonymous_variant T9T 27G>A LUSC-US 21 17198684 17198684 single base substitution G T intron_variant LUSC-US 21 17198684 17198684 single base substitution G T missense_variant S489I 1466G>T LUSC-US 21 17214736 17214736 single base substitution A C intron_variant LUSC-US 21 17214736 17214736 single base substitution A C synonymous_variant P738P 2214A>C LUSC-US 21 17214736 17214736 single base substitution A C upstream_gene_variant LUSC-US 21 17214842 17214842 single base substitution G T intron_variant LUSC-US 21 17214842 17214842 single base substitution G T stop_gained E2* 4G>T LUSC-US 21 17214842 17214842 single base substitution G T stop_gained E774* 2320G>T LUSC-US 21 17242405 17242405 single base substitution A T missense_variant R170W 508A>T LUSC-US 21 17242405 17242405 single base substitution A T missense_variant R267W 799A>T LUSC-US 21 17242405 17242405 single base substitution A T missense_variant R872W 2614A>T LUSC-US 21 17242405 17242405 single base substitution A T missense_variant R904W 2710A>T LUSC-US 21 17242405 17242405 single base substitution A T missense_variant R942W 2824A>T MALY-DE 21 17099081 17099081 single base substitution G T upstream_gene_variant MALY-DE 21 17099778 17099778 single base substitution C T upstream_gene_variant MALY-DE 21 17103889 17103889 single base substitution T G intron_variant MALY-DE 21 17104504 17104504 single base substitution T C intron_variant MALY-DE 21 17108858 17108858 single base substitution T C intron_variant MALY-DE 21 17119170 17119170 single base substitution G A intron_variant MALY-DE 21 17120970 17120970 single base substitution T A intron_variant MALY-DE 21 17121342 17121342 single base substitution T A intron_variant MALY-DE 21 17123974 17123974 single base substitution T A intron_variant MALY-DE 21 17125952 17125952 single base substitution T C intron_variant MALY-DE 21 17131639 17131642 deletion of <=200bp TCAA - intron_variant MALY-DE 21 17141823 17141823 single base substitution C T intron_variant MALY-DE 21 17141823 17141823 single base substitution C T upstream_gene_variant MALY-DE 21 17143074 17143074 single base substitution A T intron_variant MALY-DE 21 17143074 17143074 single base substitution A T upstream_gene_variant MALY-DE 21 17144902 17144902 single base substitution G A intron_variant MALY-DE 21 17144902 17144902 single base substitution G A upstream_gene_variant MALY-DE 21 17146233 17146235 deletion of <=200bp GAG - intron_variant MALY-DE 21 17148185 17148185 deletion of <=200bp T - intron_variant MALY-DE 21 17151294 17151294 single base substitution C T intron_variant MALY-DE 21 17154166 17154166 single base substitution G A intron_variant MALY-DE 21 17173157 17173157 single base substitution A T intron_variant MALY-DE 21 17179770 17179770 single base substitution C G downstream_gene_variant MALY-DE 21 17179770 17179770 single base substitution C G intron_variant MALY-DE 21 17181448 17181448 single base substitution T A downstream_gene_variant MALY-DE 21 17181448 17181448 single base substitution T A intron_variant MALY-DE 21 17183465 17183465 single base substitution G A exon_variant MALY-DE 21 17183465 17183465 single base substitution G A intron_variant MALY-DE 21 17183465 17183465 single base substitution G A synonymous_variant E289E 867G>A MALY-DE 21 17184306 17184306 single base substitution G A intron_variant MALY-DE 21 17184812 17184812 insertion of <=200bp - A intron_variant MALY-DE 21 17185878 17185878 single base substitution T C intron_variant MALY-DE 21 17187637 17187637 single base substitution G A intron_variant MALY-DE 21 17193073 17193073 single base substitution C T downstream_gene_variant MALY-DE 21 17193073 17193073 single base substitution C T intron_variant MALY-DE 21 17193073 17193073 single base substitution C T upstream_gene_variant MALY-DE 21 17201116 17201116 single base substitution C T intron_variant MALY-DE 21 17207408 17207408 single base substitution C T downstream_gene_variant MALY-DE 21 17207408 17207408 single base substitution C T intron_variant MALY-DE 21 17207881 17207881 single base substitution G T downstream_gene_variant MALY-DE 21 17207881 17207881 single base substitution G T intron_variant MALY-DE 21 17210189 17210189 single base substitution G A downstream_gene_variant MALY-DE 21 17210189 17210189 single base substitution G A intron_variant MALY-DE 21 17210189 17210189 single base substitution G A upstream_gene_variant MALY-DE 21 17210199 17210199 single base substitution G A downstream_gene_variant MALY-DE 21 17210199 17210199 single base substitution G A intron_variant MALY-DE 21 17210199 17210199 single base substitution G A upstream_gene_variant MALY-DE 21 17211649 17211649 single base substitution T C intron_variant MALY-DE 21 17211649 17211649 single base substitution T C upstream_gene_variant MALY-DE 21 17214839 17214839 single base substitution C G intron_variant MALY-DE 21 17214839 17214839 single base substitution C G missense_variant P1A 1C>G MALY-DE 21 17214839 17214839 single base substitution C G missense_variant P773A 2317C>G MALY-DE 21 17218187 17218187 single base substitution T A intron_variant MALY-DE 21 17218325 17218325 single base substitution A G intron_variant MALY-DE 21 17218993 17218993 single base substitution C A intron_variant MALY-DE 21 17221362 17221362 single base substitution A T intron_variant MALY-DE 21 17223823 17223824 deletion of <=200bp AC - intron_variant MALY-DE 21 17226182 17226182 single base substitution A G intron_variant MALY-DE 21 17233288 17233288 single base substitution T G intron_variant MALY-DE 21 17233290 17233290 single base substitution T G intron_variant MALY-DE 21 17236206 17236206 single base substitution T A intron_variant MALY-DE 21 17238456 17238456 single base substitution G A intron_variant MALY-DE 21 17238964 17238964 single base substitution A T intron_variant MALY-DE 21 17239090 17239090 single base substitution A T intron_variant MELA-AU 21 17097432 17097432 single base substitution G A upstream_gene_variant MELA-AU 21 17097475 17097475 single base substitution G A upstream_gene_variant MELA-AU 21 17097755 17097755 single base substitution A G upstream_gene_variant MELA-AU 21 17097891 17097891 single base substitution G A upstream_gene_variant MELA-AU 21 17097957 17097957 single base substitution G A upstream_gene_variant MELA-AU 21 17098220 17098220 single base substitution G A upstream_gene_variant MELA-AU 21 17098999 17098999 single base substitution G A upstream_gene_variant MELA-AU 21 17099373 17099373 single base substitution C T upstream_gene_variant MELA-AU 21 17099477 17099477 single base substitution G A upstream_gene_variant MELA-AU 21 17099654 17099655 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 21 17099833 17099833 single base substitution G A upstream_gene_variant MELA-AU 21 17099898 17099898 single base substitution G A upstream_gene_variant MELA-AU 21 17099996 17099996 single base substitution G A upstream_gene_variant MELA-AU 21 17100000 17100000 single base substitution C T upstream_gene_variant MELA-AU 21 17100001 17100001 single base substitution C T upstream_gene_variant MELA-AU 21 17100007 17100007 single base substitution C T upstream_gene_variant MELA-AU 21 17100392 17100392 single base substitution G A upstream_gene_variant MELA-AU 21 17100458 17100458 single base substitution C T upstream_gene_variant MELA-AU 21 17101077 17101077 single base substitution C T upstream_gene_variant MELA-AU 21 17101493 17101494 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 21 17101581 17101581 single base substitution C T upstream_gene_variant MELA-AU 21 17103584 17103584 single base substitution A C intron_variant MELA-AU 21 17104743 17104743 single base substitution A G intron_variant MELA-AU 21 17105703 17105703 single base substitution C T intron_variant MELA-AU 21 17106285 17106285 single base substitution C T intron_variant MELA-AU 21 17107213 17107213 single base substitution C T intron_variant MELA-AU 21 17108315 17108315 single base substitution G A intron_variant MELA-AU 21 17108480 17108480 single base substitution A C intron_variant MELA-AU 21 17108677 17108677 single base substitution G A intron_variant MELA-AU 21 17108721 17108721 single base substitution C T intron_variant MELA-AU 21 17109067 17109067 single base substitution A T intron_variant MELA-AU 21 17109283 17109283 single base substitution T C intron_variant MELA-AU 21 17109785 17109785 single base substitution C T intron_variant MELA-AU 21 17109885 17109885 single base substitution C T intron_variant MELA-AU 21 17109948 17109948 single base substitution C T intron_variant MELA-AU 21 17109949 17109949 single base substitution C T intron_variant MELA-AU 21 17110066 17110066 single base substitution A G intron_variant MELA-AU 21 17110088 17110088 single base substitution C T intron_variant MELA-AU 21 17110685 17110685 single base substitution G A intron_variant MELA-AU 21 17111143 17111143 single base substitution C A intron_variant MELA-AU 21 17111146 17111146 single base substitution A T intron_variant MELA-AU 21 17111275 17111275 single base substitution C T intron_variant MELA-AU 21 17111887 17111887 single base substitution C T intron_variant MELA-AU 21 17112272 17112272 single base substitution C A intron_variant MELA-AU 21 17112680 17112680 single base substitution C T intron_variant MELA-AU 21 17113156 17113156 single base substitution C T intron_variant MELA-AU 21 17113358 17113358 single base substitution C T intron_variant MELA-AU 21 17113846 17113846 single base substitution C T intron_variant MELA-AU 21 17114000 17114000 single base substitution C T intron_variant MELA-AU 21 17114546 17114546 single base substitution G A intron_variant MELA-AU 21 17115576 17115576 single base substitution C T intron_variant MELA-AU 21 17115775 17115775 single base substitution G A intron_variant MELA-AU 21 17116342 17116342 single base substitution C T intron_variant MELA-AU 21 17116665 17116665 single base substitution G A intron_variant MELA-AU 21 17116888 17116888 single base substitution C T intron_variant MELA-AU 21 17117296 17117296 single base substitution C T intron_variant MELA-AU 21 17117420 17117420 single base substitution C T intron_variant MELA-AU 21 17117610 17117610 single base substitution G A intron_variant MELA-AU 21 17117993 17117993 single base substitution C T intron_variant MELA-AU 21 17118145 17118145 single base substitution T A intron_variant MELA-AU 21 17118652 17118652 single base substitution C T intron_variant MELA-AU 21 17118928 17118928 single base substitution G A intron_variant MELA-AU 21 17119056 17119056 single base substitution A T intron_variant MELA-AU 21 17119105 17119105 single base substitution G A intron_variant MELA-AU 21 17119489 17119489 single base substitution C T intron_variant MELA-AU 21 17119950 17119950 single base substitution C T intron_variant MELA-AU 21 17121318 17121318 single base substitution T C intron_variant MELA-AU 21 17121386 17121386 single base substitution C T intron_variant MELA-AU 21 17122277 17122277 single base substitution C T intron_variant MELA-AU 21 17122531 17122531 single base substitution A G intron_variant MELA-AU 21 17122543 17122543 single base substitution T G intron_variant MELA-AU 21 17122642 17122642 single base substitution C T intron_variant MELA-AU 21 17122671 17122671 single base substitution C T intron_variant MELA-AU 21 17122744 17122744 single base substitution T A intron_variant MELA-AU 21 17122924 17122924 single base substitution C T intron_variant MELA-AU 21 17123085 17123086 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 17123404 17123404 single base substitution T C intron_variant MELA-AU 21 17124755 17124755 single base substitution G A intron_variant MELA-AU 21 17125007 17125007 single base substitution T A intron_variant MELA-AU 21 17126115 17126115 single base substitution C T intron_variant MELA-AU 21 17127358 17127358 single base substitution G A intron_variant MELA-AU 21 17127542 17127542 single base substitution C T intron_variant MELA-AU 21 17128481 17128481 single base substitution C T intron_variant MELA-AU 21 17128544 17128544 single base substitution C T intron_variant MELA-AU 21 17128685 17128685 single base substitution C T intron_variant MELA-AU 21 17129236 17129236 single base substitution G A intron_variant MELA-AU 21 17130478 17130478 single base substitution T C intron_variant MELA-AU 21 17130721 17130721 single base substitution C T intron_variant MELA-AU 21 17130746 17130746 single base substitution A G intron_variant MELA-AU 21 17131536 17131536 single base substitution C T intron_variant MELA-AU 21 17131699 17131699 single base substitution G A intron_variant MELA-AU 21 17132469 17132469 single base substitution C T intron_variant MELA-AU 21 17132527 17132527 single base substitution G A intron_variant MELA-AU 21 17132858 17132858 single base substitution A G intron_variant MELA-AU 21 17133642 17133643 multiple base substitution (>=2bp and <=200bp) CC TG intron_variant MELA-AU 21 17134115 17134115 single base substitution C T intron_variant MELA-AU 21 17135172 17135172 single base substitution T C intron_variant MELA-AU 21 17136570 17136570 single base substitution C T intron_variant MELA-AU 21 17136696 17136696 single base substitution C T intron_variant MELA-AU 21 17136771 17136771 single base substitution G T intron_variant MELA-AU 21 17137360 17137360 single base substitution G A intron_variant MELA-AU 21 17138618 17138618 single base substitution C T intron_variant MELA-AU 21 17138690 17138690 single base substitution A T intron_variant MELA-AU 21 17138838 17138838 single base substitution A G intron_variant MELA-AU 21 17139505 17139505 single base substitution C T intron_variant MELA-AU 21 17140765 17140765 single base substitution G A intron_variant MELA-AU 21 17140765 17140765 single base substitution G A upstream_gene_variant MELA-AU 21 17141574 17141574 single base substitution T G intron_variant MELA-AU 21 17141574 17141574 single base substitution T G upstream_gene_variant MELA-AU 21 17141664 17141664 single base substitution C T intron_variant MELA-AU 21 17141664 17141664 single base substitution C T upstream_gene_variant MELA-AU 21 17142449 17142449 single base substitution A G intron_variant MELA-AU 21 17142449 17142449 single base substitution A G upstream_gene_variant MELA-AU 21 17142514 17142514 single base substitution C T intron_variant MELA-AU 21 17142514 17142514 single base substitution C T upstream_gene_variant MELA-AU 21 17143463 17143463 single base substitution C T intron_variant MELA-AU 21 17143463 17143463 single base substitution C T upstream_gene_variant MELA-AU 21 17143962 17143962 single base substitution T C intron_variant MELA-AU 21 17143962 17143962 single base substitution T C upstream_gene_variant MELA-AU 21 17144011 17144011 single base substitution C T intron_variant MELA-AU 21 17144011 17144011 single base substitution C T upstream_gene_variant MELA-AU 21 17144176 17144176 single base substitution C T intron_variant MELA-AU 21 17144176 17144176 single base substitution C T upstream_gene_variant MELA-AU 21 17144580 17144580 single base substitution C T intron_variant MELA-AU 21 17144580 17144580 single base substitution C T upstream_gene_variant MELA-AU 21 17145799 17145800 multiple base substitution (>=2bp and <=200bp) TT AA intron_variant MELA-AU 21 17145804 17145804 single base substitution C T intron_variant MELA-AU 21 17146062 17146062 single base substitution T C intron_variant MELA-AU 21 17147792 17147792 insertion of <=200bp - T intron_variant MELA-AU 21 17148986 17148986 single base substitution C T intron_variant MELA-AU 21 17149373 17149373 single base substitution C T intron_variant MELA-AU 21 17150038 17150038 single base substitution C T intron_variant MELA-AU 21 17150065 17150065 single base substitution A G intron_variant MELA-AU 21 17150556 17150556 single base substitution G T intron_variant MELA-AU 21 17150777 17150777 single base substitution C A intron_variant MELA-AU 21 17152490 17152490 single base substitution C T intron_variant MELA-AU 21 17152645 17152645 single base substitution A C intron_variant MELA-AU 21 17152694 17152694 single base substitution G C intron_variant MELA-AU 21 17152942 17152942 single base substitution C T intron_variant MELA-AU 21 17153197 17153197 single base substitution C T intron_variant MELA-AU 21 17153212 17153212 single base substitution C T intron_variant MELA-AU 21 17153432 17153432 single base substitution C T intron_variant MELA-AU 21 17153441 17153441 single base substitution C T intron_variant MELA-AU 21 17153482 17153482 single base substitution C T intron_variant MELA-AU 21 17153929 17153929 single base substitution C T intron_variant MELA-AU 21 17154434 17154435 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 17155037 17155037 single base substitution C T intron_variant MELA-AU 21 17155079 17155079 single base substitution C A intron_variant MELA-AU 21 17155080 17155080 single base substitution C T intron_variant MELA-AU 21 17155154 17155154 single base substitution G T intron_variant MELA-AU 21 17155564 17155564 single base substitution C T intron_variant MELA-AU 21 17155817 17155817 single base substitution C T intron_variant MELA-AU 21 17156303 17156303 single base substitution A G intron_variant MELA-AU 21 17156522 17156522 single base substitution C T intron_variant MELA-AU 21 17156774 17156774 single base substitution C T intron_variant MELA-AU 21 17156859 17156859 single base substitution C T intron_variant MELA-AU 21 17157258 17157258 single base substitution C T intron_variant MELA-AU 21 17157388 17157389 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 17157390 17157390 single base substitution C T intron_variant MELA-AU 21 17157766 17157766 single base substitution C T intron_variant MELA-AU 21 17158901 17158901 single base substitution G A intron_variant MELA-AU 21 17159281 17159281 single base substitution A T intron_variant MELA-AU 21 17159294 17159294 single base substitution G C intron_variant MELA-AU 21 17159730 17159731 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 21 17159990 17159990 single base substitution G A intron_variant MELA-AU 21 17160217 17160217 single base substitution C T intron_variant MELA-AU 21 17160436 17160436 single base substitution T C intron_variant MELA-AU 21 17161641 17161641 single base substitution A T intron_variant MELA-AU 21 17162388 17162388 single base substitution C T intron_variant MELA-AU 21 17162450 17162451 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 21 17162707 17162707 single base substitution T C intron_variant MELA-AU 21 17162726 17162726 single base substitution G T intron_variant MELA-AU 21 17163516 17163516 single base substitution C T intron_variant MELA-AU 21 17163696 17163696 single base substitution A G intron_variant MELA-AU 21 17164228 17164228 single base substitution C G intron_variant MELA-AU 21 17164348 17164348 single base substitution C T intron_variant MELA-AU 21 17164529 17164529 single base substitution C T intron_variant MELA-AU 21 17164590 17164590 single base substitution A G intron_variant MELA-AU 21 17165011 17165011 single base substitution T A intron_variant MELA-AU 21 17165048 17165048 single base substitution C T intron_variant MELA-AU 21 17165573 17165573 single base substitution A G intron_variant MELA-AU 21 17165996 17165996 single base substitution C T intron_variant MELA-AU 21 17166002 17166002 single base substitution A G intron_variant MELA-AU 21 17166965 17166965 single base substitution C T intron_variant MELA-AU 21 17166965 17166965 single base substitution C T upstream_gene_variant MELA-AU 21 17167839 17167839 single base substitution C T intron_variant MELA-AU 21 17167839 17167839 single base substitution C T upstream_gene_variant MELA-AU 21 17168302 17168302 single base substitution C T intron_variant MELA-AU 21 17168302 17168302 single base substitution C T upstream_gene_variant MELA-AU 21 17169032 17169032 single base substitution G T intron_variant MELA-AU 21 17169032 17169032 single base substitution G T upstream_gene_variant MELA-AU 21 17169080 17169080 single base substitution C T intron_variant MELA-AU 21 17169080 17169080 single base substitution C T upstream_gene_variant MELA-AU 21 17169236 17169236 single base substitution G A intron_variant MELA-AU 21 17169236 17169236 single base substitution G A upstream_gene_variant MELA-AU 21 17170560 17170560 single base substitution A T intron_variant MELA-AU 21 17170560 17170560 single base substitution A T upstream_gene_variant MELA-AU 21 17170768 17170768 single base substitution C T intron_variant MELA-AU 21 17170768 17170768 single base substitution C T upstream_gene_variant MELA-AU 21 17170963 17170963 single base substitution A T intron_variant MELA-AU 21 17170963 17170963 single base substitution A T upstream_gene_variant MELA-AU 21 17171630 17171630 single base substitution T A intron_variant MELA-AU 21 17171630 17171630 single base substitution T A upstream_gene_variant MELA-AU 21 17171966 17171966 single base substitution G T exon_variant MELA-AU 21 17171966 17171966 single base substitution G T intron_variant MELA-AU 21 17172185 17172185 single base substitution A T intron_variant MELA-AU 21 17172187 17172187 single base substitution G A intron_variant MELA-AU 21 17172348 17172348 single base substitution C T intron_variant MELA-AU 21 17172463 17172463 single base substitution C T intron_variant MELA-AU 21 17172504 17172504 single base substitution C T intron_variant MELA-AU 21 17172872 17172872 single base substitution T C intron_variant MELA-AU 21 17173502 17173502 single base substitution T A intron_variant MELA-AU 21 17173727 17173727 single base substitution C T intron_variant MELA-AU 21 17174415 17174415 single base substitution T A intron_variant MELA-AU 21 17174724 17174724 single base substitution T G intron_variant MELA-AU 21 17176357 17176357 single base substitution A G intron_variant MELA-AU 21 17176750 17176750 single base substitution C T intron_variant MELA-AU 21 17177698 17177698 single base substitution C T exon_variant MELA-AU 21 17177698 17177698 single base substitution C T intron_variant MELA-AU 21 17177866 17177866 single base substitution C T exon_variant MELA-AU 21 17177866 17177866 single base substitution C T intron_variant MELA-AU 21 17178456 17178456 single base substitution C T downstream_gene_variant MELA-AU 21 17178456 17178456 single base substitution C T intron_variant MELA-AU 21 17178710 17178710 single base substitution C T downstream_gene_variant MELA-AU 21 17178710 17178710 single base substitution C T intron_variant MELA-AU 21 17178741 17178741 single base substitution C T downstream_gene_variant MELA-AU 21 17178741 17178741 single base substitution C T intron_variant MELA-AU 21 17179148 17179148 single base substitution C T downstream_gene_variant MELA-AU 21 17179148 17179148 single base substitution C T intron_variant MELA-AU 21 17179241 17179241 single base substitution T G downstream_gene_variant MELA-AU 21 17179241 17179241 single base substitution T G intron_variant MELA-AU 21 17179488 17179488 single base substitution C T downstream_gene_variant MELA-AU 21 17179488 17179488 single base substitution C T intron_variant MELA-AU 21 17179764 17179764 single base substitution T C downstream_gene_variant MELA-AU 21 17179764 17179764 single base substitution T C intron_variant MELA-AU 21 17179930 17179930 single base substitution C T downstream_gene_variant MELA-AU 21 17179930 17179930 single base substitution C T intron_variant MELA-AU 21 17179952 17179952 single base substitution C T downstream_gene_variant MELA-AU 21 17179952 17179952 single base substitution C T intron_variant MELA-AU 21 17179959 17179959 single base substitution C T downstream_gene_variant MELA-AU 21 17179959 17179959 single base substitution C T intron_variant MELA-AU 21 17180160 17180160 single base substitution T C downstream_gene_variant MELA-AU 21 17180160 17180160 single base substitution T C intron_variant MELA-AU 21 17180470 17180470 single base substitution C T downstream_gene_variant MELA-AU 21 17180470 17180470 single base substitution C T intron_variant MELA-AU 21 17180722 17180722 single base substitution G A downstream_gene_variant MELA-AU 21 17180722 17180722 single base substitution G A intron_variant MELA-AU 21 17180794 17180794 single base substitution C T downstream_gene_variant MELA-AU 21 17180794 17180794 single base substitution C T intron_variant MELA-AU 21 17182239 17182239 single base substitution C T downstream_gene_variant MELA-AU 21 17182239 17182239 single base substitution C T intron_variant MELA-AU 21 17182644 17182644 single base substitution C T downstream_gene_variant MELA-AU 21 17182644 17182644 single base substitution C T intron_variant MELA-AU 21 17183343 17183343 single base substitution C G intron_variant MELA-AU 21 17183480 17183480 single base substitution C T exon_variant MELA-AU 21 17183480 17183480 single base substitution C T intron_variant MELA-AU 21 17183480 17183480 single base substitution C T synonymous_variant P294P 882C>T MELA-AU 21 17183783 17183783 single base substitution C T intron_variant MELA-AU 21 17183986 17183986 single base substitution G A intron_variant MELA-AU 21 17184037 17184037 single base substitution C T intron_variant MELA-AU 21 17184472 17184472 single base substitution T A intron_variant MELA-AU 21 17184677 17184677 single base substitution T G intron_variant MELA-AU 21 17185084 17185084 single base substitution G A intron_variant MELA-AU 21 17185343 17185343 single base substitution C T intron_variant MELA-AU 21 17185566 17185566 single base substitution C T intron_variant MELA-AU 21 17185763 17185763 single base substitution C T intron_variant MELA-AU 21 17185764 17185764 single base substitution C T intron_variant MELA-AU 21 17185827 17185827 single base substitution T G intron_variant MELA-AU 21 17186011 17186011 single base substitution C T intron_variant MELA-AU 21 17186105 17186106 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 17186508 17186508 single base substitution C T intron_variant MELA-AU 21 17186759 17186759 single base substitution G A intron_variant MELA-AU 21 17187243 17187243 single base substitution T G intron_variant MELA-AU 21 17188683 17188683 single base substitution G A intron_variant MELA-AU 21 17188758 17188758 single base substitution C T intron_variant MELA-AU 21 17188778 17188778 single base substitution C T intron_variant MELA-AU 21 17189198 17189198 single base substitution C T intron_variant MELA-AU 21 17189289 17189289 single base substitution G A intron_variant MELA-AU 21 17189307 17189307 single base substitution C T intron_variant MELA-AU 21 17189600 17189601 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 17190316 17190316 single base substitution C T intron_variant MELA-AU 21 17190353 17190353 single base substitution C T intron_variant MELA-AU 21 17192273 17192273 single base substitution C T downstream_gene_variant MELA-AU 21 17192273 17192273 single base substitution C T intron_variant MELA-AU 21 17192496 17192496 single base substitution A G downstream_gene_variant MELA-AU 21 17192496 17192496 single base substitution A G intron_variant MELA-AU 21 17192496 17192496 single base substitution A G upstream_gene_variant MELA-AU 21 17192762 17192762 single base substitution T A downstream_gene_variant MELA-AU 21 17192762 17192762 single base substitution T A intron_variant MELA-AU 21 17192762 17192762 single base substitution T A upstream_gene_variant MELA-AU 21 17193544 17193544 single base substitution C T downstream_gene_variant MELA-AU 21 17193544 17193544 single base substitution C T intron_variant MELA-AU 21 17193544 17193544 single base substitution C T upstream_gene_variant MELA-AU 21 17195634 17195634 single base substitution C T downstream_gene_variant MELA-AU 21 17195634 17195634 single base substitution C T intron_variant MELA-AU 21 17195634 17195634 single base substitution C T upstream_gene_variant MELA-AU 21 17195776 17195776 single base substitution G A downstream_gene_variant MELA-AU 21 17195776 17195776 single base substitution G A intron_variant MELA-AU 21 17195776 17195776 single base substitution G A upstream_gene_variant MELA-AU 21 17196100 17196100 single base substitution G A intron_variant MELA-AU 21 17196100 17196100 single base substitution G A upstream_gene_variant MELA-AU 21 17196373 17196374 multiple base substitution (>=2bp and <=200bp) TT AA intron_variant MELA-AU 21 17196373 17196374 multiple base substitution (>=2bp and <=200bp) TT AA missense_variant L366K 1096TT>AA MELA-AU 21 17196373 17196374 multiple base substitution (>=2bp and <=200bp) TT AA upstream_gene_variant MELA-AU 21 17197278 17197278 single base substitution C T intron_variant MELA-AU 21 17197278 17197278 single base substitution C T splice_region_variant MELA-AU 21 17197278 17197278 single base substitution C T upstream_gene_variant MELA-AU 21 17197812 17197812 single base substitution G T intron_variant MELA-AU 21 17197973 17197973 single base substitution A G intron_variant MELA-AU 21 17198422 17198422 single base substitution G A intron_variant MELA-AU 21 17199150 17199150 single base substitution C T intron_variant MELA-AU 21 17199501 17199501 single base substitution G T intron_variant MELA-AU 21 17199501 17199501 single base substitution G T stop_gained E558* 1672G>T MELA-AU 21 17199501 17199501 single base substitution G T stop_gained E86* 256G>T MELA-AU 21 17201170 17201170 single base substitution G A intron_variant MELA-AU 21 17201449 17201449 single base substitution C G intron_variant MELA-AU 21 17201873 17201873 single base substitution C T intron_variant MELA-AU 21 17202052 17202052 single base substitution C T intron_variant MELA-AU 21 17202354 17202354 single base substitution C T intron_variant MELA-AU 21 17203771 17203771 single base substitution G T intron_variant MELA-AU 21 17203771 17203771 single base substitution G T missense_variant G134W 400G>T MELA-AU 21 17203771 17203771 single base substitution G T missense_variant G606W 1816G>T MELA-AU 21 17204767 17204767 single base substitution G A intron_variant MELA-AU 21 17204807 17204807 single base substitution C T intron_variant MELA-AU 21 17204852 17204852 single base substitution C T intron_variant MELA-AU 21 17205260 17205261 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 17205439 17205439 single base substitution A T intron_variant MELA-AU 21 17205589 17205589 single base substitution G A intron_variant MELA-AU 21 17205610 17205610 single base substitution T C intron_variant MELA-AU 21 17206822 17206822 insertion of <=200bp - T downstream_gene_variant MELA-AU 21 17206822 17206822 insertion of <=200bp - T intron_variant MELA-AU 21 17206848 17206848 single base substitution C T downstream_gene_variant MELA-AU 21 17206848 17206848 single base substitution C T intron_variant MELA-AU 21 17206992 17206992 single base substitution T C downstream_gene_variant MELA-AU 21 17206992 17206992 single base substitution T C intron_variant MELA-AU 21 17207608 17207608 single base substitution C T downstream_gene_variant MELA-AU 21 17207608 17207608 single base substitution C T intron_variant MELA-AU 21 17207998 17207998 single base substitution G A downstream_gene_variant MELA-AU 21 17207998 17207998 single base substitution G A intron_variant MELA-AU 21 17208029 17208029 single base substitution T G downstream_gene_variant MELA-AU 21 17208029 17208029 single base substitution T G intron_variant MELA-AU 21 17209470 17209470 single base substitution C T downstream_gene_variant MELA-AU 21 17209470 17209470 single base substitution C T intron_variant MELA-AU 21 17209833 17209833 single base substitution C A downstream_gene_variant MELA-AU 21 17209833 17209833 single base substitution C A intron_variant MELA-AU 21 17209979 17209979 single base substitution C T downstream_gene_variant MELA-AU 21 17209979 17209979 single base substitution C T intron_variant MELA-AU 21 17209979 17209979 single base substitution C T upstream_gene_variant MELA-AU 21 17210030 17210030 single base substitution A T downstream_gene_variant MELA-AU 21 17210030 17210030 single base substitution A T intron_variant MELA-AU 21 17210030 17210030 single base substitution A T upstream_gene_variant MELA-AU 21 17210347 17210347 single base substitution G A downstream_gene_variant MELA-AU 21 17210347 17210347 single base substitution G A intron_variant MELA-AU 21 17210347 17210347 single base substitution G A upstream_gene_variant MELA-AU 21 17210473 17210473 single base substitution C T downstream_gene_variant MELA-AU 21 17210473 17210473 single base substitution C T intron_variant MELA-AU 21 17210473 17210473 single base substitution C T upstream_gene_variant MELA-AU 21 17210654 17210654 single base substitution C T downstream_gene_variant MELA-AU 21 17210654 17210654 single base substitution C T intron_variant MELA-AU 21 17210654 17210654 single base substitution C T upstream_gene_variant MELA-AU 21 17210964 17210964 single base substitution G A intron_variant MELA-AU 21 17210964 17210964 single base substitution G A upstream_gene_variant MELA-AU 21 17211270 17211270 single base substitution C T intron_variant MELA-AU 21 17211270 17211270 single base substitution C T upstream_gene_variant MELA-AU 21 17212072 17212072 single base substitution A T intron_variant MELA-AU 21 17212072 17212072 single base substitution A T upstream_gene_variant MELA-AU 21 17212841 17212841 single base substitution C T intron_variant MELA-AU 21 17212841 17212841 single base substitution C T upstream_gene_variant MELA-AU 21 17212873 17212873 single base substitution T C intron_variant MELA-AU 21 17212873 17212873 single base substitution T C upstream_gene_variant MELA-AU 21 17213747 17213747 single base substitution A G intron_variant MELA-AU 21 17213747 17213747 single base substitution A G upstream_gene_variant MELA-AU 21 17213947 17213947 single base substitution C T intron_variant MELA-AU 21 17213947 17213947 single base substitution C T upstream_gene_variant MELA-AU 21 17214527 17214527 single base substitution T C intron_variant MELA-AU 21 17214527 17214527 single base substitution T C upstream_gene_variant MELA-AU 21 17214840 17214840 single base substitution C T intron_variant MELA-AU 21 17214840 17214840 single base substitution C T missense_variant P1L 2C>T MELA-AU 21 17214840 17214840 single base substitution C T missense_variant P773L 2318C>T MELA-AU 21 17216009 17216009 single base substitution G A intron_variant MELA-AU 21 17216567 17216567 single base substitution C T intron_variant MELA-AU 21 17216654 17216654 single base substitution A G intron_variant MELA-AU 21 17217420 17217420 single base substitution C T intron_variant MELA-AU 21 17217578 17217578 single base substitution C T intron_variant MELA-AU 21 17217926 17217926 single base substitution C T intron_variant MELA-AU 21 17218022 17218022 single base substitution G A intron_variant MELA-AU 21 17218111 17218111 single base substitution C T intron_variant MELA-AU 21 17219266 17219266 single base substitution G A intron_variant MELA-AU 21 17219389 17219389 single base substitution T C intron_variant MELA-AU 21 17220859 17220859 single base substitution G A intron_variant MELA-AU 21 17222383 17222383 single base substitution C T intron_variant MELA-AU 21 17222404 17222404 single base substitution C T intron_variant MELA-AU 21 17222407 17222407 single base substitution T A intron_variant MELA-AU 21 17222662 17222662 single base substitution T C intron_variant MELA-AU 21 17222798 17222798 single base substitution C T intron_variant MELA-AU 21 17222998 17222998 single base substitution C T intron_variant MELA-AU 21 17223702 17223702 single base substitution T G intron_variant MELA-AU 21 17223817 17223818 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 17224219 17224219 single base substitution C T intron_variant MELA-AU 21 17224989 17224989 single base substitution C T intron_variant MELA-AU 21 17225013 17225013 single base substitution C T intron_variant MELA-AU 21 17225256 17225256 single base substitution C T intron_variant MELA-AU 21 17225294 17225294 single base substitution C T intron_variant MELA-AU 21 17225536 17225536 single base substitution C T intron_variant MELA-AU 21 17225800 17225800 single base substitution T C intron_variant MELA-AU 21 17225840 17225840 single base substitution C T intron_variant MELA-AU 21 17226161 17226161 single base substitution T C intron_variant MELA-AU 21 17226273 17226273 single base substitution C T intron_variant MELA-AU 21 17226669 17226669 single base substitution T C intron_variant MELA-AU 21 17227214 17227214 single base substitution T A intron_variant MELA-AU 21 17227248 17227248 single base substitution C T intron_variant MELA-AU 21 17228138 17228138 single base substitution T C intron_variant MELA-AU 21 17228832 17228832 single base substitution C T intron_variant MELA-AU 21 17229424 17229424 single base substitution A T intron_variant MELA-AU 21 17231484 17231484 single base substitution A C intron_variant MELA-AU 21 17232145 17232145 single base substitution C T intron_variant MELA-AU 21 17232145 17232146 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 17232177 17232177 single base substitution G A intron_variant MELA-AU 21 17232512 17232512 single base substitution C T intron_variant MELA-AU 21 17232559 17232560 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 17233290 17233290 single base substitution T G intron_variant MELA-AU 21 17234262 17234262 single base substitution C T intron_variant MELA-AU 21 17234433 17234433 single base substitution A C intron_variant MELA-AU 21 17234719 17234719 single base substitution G A intron_variant MELA-AU 21 17235032 17235032 single base substitution A C intron_variant MELA-AU 21 17235429 17235429 single base substitution A T intron_variant MELA-AU 21 17235431 17235431 single base substitution A C intron_variant MELA-AU 21 17235627 17235627 single base substitution C T intron_variant MELA-AU 21 17235732 17235732 single base substitution C T intron_variant MELA-AU 21 17236036 17236036 single base substitution G A intron_variant MELA-AU 21 17238541 17238541 single base substitution C T intron_variant MELA-AU 21 17239426 17239426 single base substitution G T intron_variant MELA-AU 21 17239607 17239607 single base substitution C T intron_variant MELA-AU 21 17239882 17239882 single base substitution A C intron_variant MELA-AU 21 17240547 17240547 single base substitution C T intron_variant MELA-AU 21 17240918 17240918 single base substitution C T intron_variant MELA-AU 21 17241001 17241001 single base substitution C T intron_variant MELA-AU 21 17241605 17241605 single base substitution C T intron_variant MELA-AU 21 17242082 17242082 single base substitution A T intron_variant MELA-AU 21 17242451 17242451 single base substitution A G missense_variant N185S 554A>G MELA-AU 21 17242451 17242451 single base substitution A G missense_variant N282S 845A>G MELA-AU 21 17242451 17242451 single base substitution A G missense_variant N887S 2660A>G MELA-AU 21 17242451 17242451 single base substitution A G missense_variant N919S 2756A>G MELA-AU 21 17242451 17242451 single base substitution A G missense_variant N957S 2870A>G MELA-AU 21 17242890 17242890 single base substitution A T intron_variant MELA-AU 21 17242931 17242931 single base substitution T G intron_variant MELA-AU 21 17242933 17242933 single base substitution A T intron_variant MELA-AU 21 17243443 17243443 single base substitution T C intron_variant MELA-AU 21 17243443 17243443 single base substitution T C upstream_gene_variant MELA-AU 21 17243710 17243710 single base substitution A G intron_variant MELA-AU 21 17243710 17243710 single base substitution A G upstream_gene_variant MELA-AU 21 17244346 17244346 single base substitution T A intron_variant MELA-AU 21 17244346 17244346 single base substitution T A upstream_gene_variant MELA-AU 21 17244436 17244436 single base substitution T C intron_variant MELA-AU 21 17244436 17244436 single base substitution T C upstream_gene_variant MELA-AU 21 17244565 17244565 single base substitution A G intron_variant MELA-AU 21 17244565 17244565 single base substitution A G upstream_gene_variant MELA-AU 21 17244908 17244908 single base substitution C T intron_variant MELA-AU 21 17244908 17244908 single base substitution C T upstream_gene_variant MELA-AU 21 17245004 17245004 single base substitution C T intron_variant MELA-AU 21 17245004 17245004 single base substitution C T upstream_gene_variant MELA-AU 21 17245213 17245213 single base substitution C T intron_variant MELA-AU 21 17245213 17245213 single base substitution C T upstream_gene_variant MELA-AU 21 17245398 17245398 single base substitution T A intron_variant MELA-AU 21 17245398 17245398 single base substitution T A upstream_gene_variant MELA-AU 21 17247460 17247460 single base substitution C T downstream_gene_variant MELA-AU 21 17247460 17247460 single base substitution C T intron_variant MELA-AU 21 17247460 17247460 single base substitution C T upstream_gene_variant MELA-AU 21 17247750 17247750 single base substitution G A downstream_gene_variant MELA-AU 21 17247750 17247750 single base substitution G A intron_variant MELA-AU 21 17247750 17247750 single base substitution G A upstream_gene_variant MELA-AU 21 17248477 17248477 single base substitution A G downstream_gene_variant MELA-AU 21 17248477 17248477 single base substitution A G exon_variant MELA-AU 21 17248477 17248477 single base substitution A G intron_variant MELA-AU 21 17249235 17249235 single base substitution A G downstream_gene_variant MELA-AU 21 17249235 17249235 single base substitution A G exon_variant MELA-AU 21 17249235 17249235 single base substitution A G intron_variant MELA-AU 21 17250090 17250090 single base substitution T A downstream_gene_variant MELA-AU 21 17250090 17250090 single base substitution T A exon_variant MELA-AU 21 17250090 17250090 single base substitution T A intron_variant MELA-AU 21 17250160 17250160 single base substitution C T downstream_gene_variant MELA-AU 21 17250160 17250160 single base substitution C T exon_variant MELA-AU 21 17250160 17250160 single base substitution C T stop_gained R1019* 3055C>T MELA-AU 21 17250160 17250160 single base substitution C T stop_gained R344* 1030C>T MELA-AU 21 17250160 17250160 single base substitution C T stop_gained R949* 2845C>T MELA-AU 21 17250160 17250160 single base substitution C T stop_gained R981* 2941C>T MELA-AU 21 17250626 17250626 single base substitution C T downstream_gene_variant MELA-AU 21 17250626 17250626 single base substitution C T exon_variant MELA-AU 21 17250626 17250626 single base substitution C T synonymous_variant H1000H 3000C>T MELA-AU 21 17250626 17250626 single base substitution C T synonymous_variant H1032H 3096C>T MELA-AU 21 17250626 17250626 single base substitution C T synonymous_variant H1070H 3210C>T MELA-AU 21 17250626 17250626 single base substitution C T synonymous_variant H395H 1185C>T MELA-AU 21 17250673 17250673 single base substitution C T downstream_gene_variant MELA-AU 21 17250673 17250673 single base substitution C T exon_variant MELA-AU 21 17250673 17250673 single base substitution C T missense_variant S1016F 3047C>T MELA-AU 21 17250673 17250673 single base substitution C T missense_variant S1048F 3143C>T MELA-AU 21 17250673 17250673 single base substitution C T missense_variant S1086F 3257C>T MELA-AU 21 17250673 17250673 single base substitution C T missense_variant S411F 1232C>T MELA-AU 21 17250845 17250845 single base substitution C T 3_prime_UTR_variant MELA-AU 21 17250845 17250845 single base substitution C T downstream_gene_variant MELA-AU 21 17250845 17250845 single base substitution C T exon_variant MELA-AU 21 17251836 17251836 single base substitution C T 3_prime_UTR_variant MELA-AU 21 17251836 17251836 single base substitution C T downstream_gene_variant MELA-AU 21 17252699 17252699 single base substitution C A downstream_gene_variant MELA-AU 21 17252720 17252720 single base substitution C T downstream_gene_variant MELA-AU 21 17252806 17252818 deletion of <=200bp AACCCCAGCATCC - downstream_gene_variant MELA-AU 21 17252985 17252986 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 21 17253247 17253247 single base substitution C T downstream_gene_variant MELA-AU 21 17253426 17253426 single base substitution T A downstream_gene_variant MELA-AU 21 17253746 17253746 single base substitution G A downstream_gene_variant MELA-AU 21 17253842 17253842 single base substitution A T downstream_gene_variant MELA-AU 21 17253892 17253892 single base substitution C T downstream_gene_variant MELA-AU 21 17253954 17253954 single base substitution C T downstream_gene_variant MELA-AU 21 17255274 17255274 single base substitution C T downstream_gene_variant MELA-AU 21 17255424 17255424 single base substitution A G downstream_gene_variant MELA-AU 21 17255606 17255606 single base substitution C T downstream_gene_variant MELA-AU 21 17255699 17255699 single base substitution C T downstream_gene_variant MELA-AU 21 17255708 17255708 single base substitution T G downstream_gene_variant MELA-AU 21 17255932 17255932 single base substitution C T downstream_gene_variant MELA-AU 21 17256012 17256012 single base substitution T G downstream_gene_variant MELA-AU 21 17256306 17256306 single base substitution T A downstream_gene_variant MELA-AU 21 17256624 17256624 single base substitution C T downstream_gene_variant MELA-AU 21 17257071 17257071 single base substitution C T downstream_gene_variant MELA-AU 21 17257187 17257187 single base substitution C T downstream_gene_variant ORCA-IN 21 17098029 17098029 single base substitution G C upstream_gene_variant ORCA-IN 21 17104037 17104037 single base substitution C T intron_variant ORCA-IN 21 17165952 17165952 single base substitution G A intron_variant ORCA-IN 21 17166836 17166836 single base substitution C G intron_variant ORCA-IN 21 17248244 17248244 deletion of <=200bp G - downstream_gene_variant ORCA-IN 21 17248244 17248244 deletion of <=200bp G - intron_variant ORCA-IN 21 17248244 17248244 deletion of <=200bp G - upstream_gene_variant OV-AU 21 17100502 17100502 single base substitution G C upstream_gene_variant OV-AU 21 17103521 17103521 single base substitution C G intron_variant OV-AU 21 17113367 17113367 single base substitution T C intron_variant OV-AU 21 17115767 17115767 single base substitution G A intron_variant OV-AU 21 17117022 17117022 single base substitution C T intron_variant OV-AU 21 17121113 17121113 single base substitution T C intron_variant OV-AU 21 17131215 17131215 single base substitution C G intron_variant OV-AU 21 17133227 17133227 single base substitution T A intron_variant OV-AU 21 17135836 17135836 single base substitution T C intron_variant OV-AU 21 17136108 17136108 single base substitution C T intron_variant OV-AU 21 17139858 17139858 single base substitution C A intron_variant OV-AU 21 17150567 17150567 single base substitution T A intron_variant OV-AU 21 17151765 17151765 single base substitution A G intron_variant OV-AU 21 17161916 17161916 single base substitution C T intron_variant OV-AU 21 17162008 17162008 single base substitution C T intron_variant OV-AU 21 17164000 17164000 single base substitution A G intron_variant OV-AU 21 17166054 17166054 single base substitution C G intron_variant OV-AU 21 17169612 17169612 single base substitution A T intron_variant OV-AU 21 17169612 17169612 single base substitution A T upstream_gene_variant OV-AU 21 17170199 17170199 single base substitution G C intron_variant OV-AU 21 17170199 17170199 single base substitution G C upstream_gene_variant OV-AU 21 17175738 17175738 single base substitution G T intron_variant OV-AU 21 17179200 17179200 single base substitution C T downstream_gene_variant OV-AU 21 17179200 17179200 single base substitution C T intron_variant OV-AU 21 17179825 17179825 single base substitution G T downstream_gene_variant OV-AU 21 17179825 17179825 single base substitution G T intron_variant OV-AU 21 17188940 17188940 single base substitution C T intron_variant OV-AU 21 17189168 17189168 single base substitution C A intron_variant OV-AU 21 17193630 17193630 single base substitution C T downstream_gene_variant OV-AU 21 17193630 17193630 single base substitution C T intron_variant OV-AU 21 17193630 17193630 single base substitution C T upstream_gene_variant OV-AU 21 17196111 17196111 single base substitution G C intron_variant OV-AU 21 17196111 17196111 single base substitution G C upstream_gene_variant OV-AU 21 17205296 17205296 single base substitution C T intron_variant OV-AU 21 17211205 17211205 single base substitution A G intron_variant OV-AU 21 17211205 17211205 single base substitution A G upstream_gene_variant OV-AU 21 17220850 17220850 single base substitution T G intron_variant OV-AU 21 17224587 17224587 single base substitution C G intron_variant OV-AU 21 17225981 17225981 single base substitution T G intron_variant OV-AU 21 17252865 17252865 single base substitution C T downstream_gene_variant OV-US 21 17242434 17242434 single base substitution C G synonymous_variant L179L 537C>G OV-US 21 17242434 17242434 single base substitution C G synonymous_variant L276L 828C>G OV-US 21 17242434 17242434 single base substitution C G synonymous_variant L881L 2643C>G OV-US 21 17242434 17242434 single base substitution C G synonymous_variant L913L 2739C>G OV-US 21 17242434 17242434 single base substitution C G synonymous_variant L951L 2853C>G OV-US 21 17250151 17250151 single base substitution G C downstream_gene_variant OV-US 21 17250151 17250151 single base substitution G C exon_variant OV-US 21 17250151 17250151 single base substitution G C missense_variant G1016R 3046G>C OV-US 21 17250151 17250151 single base substitution G C missense_variant G341R 1021G>C OV-US 21 17250151 17250151 single base substitution G C missense_variant G946R 2836G>C OV-US 21 17250151 17250151 single base substitution G C missense_variant G978R 2932G>C PACA-AU 21 17098683 17098683 single base substitution G C upstream_gene_variant PACA-AU 21 17103306 17103306 single base substitution T G intron_variant PACA-AU 21 17107454 17107454 single base substitution C T intron_variant PACA-AU 21 17118900 17118900 single base substitution A G intron_variant PACA-AU 21 17122535 17122535 single base substitution T G intron_variant PACA-AU 21 17125023 17125029 deletion of <=200bp AATGCTT - intron_variant PACA-AU 21 17128697 17128697 single base substitution C A intron_variant PACA-AU 21 17129463 17129463 single base substitution G T intron_variant PACA-AU 21 17140838 17140838 single base substitution G T intron_variant PACA-AU 21 17140838 17140838 single base substitution G T upstream_gene_variant PACA-AU 21 17145626 17145626 single base substitution G A exon_variant PACA-AU 21 17145626 17145626 single base substitution G A intron_variant PACA-AU 21 17161935 17161935 single base substitution T C intron_variant PACA-AU 21 17167667 17167667 single base substitution T C intron_variant PACA-AU 21 17167667 17167667 single base substitution T C upstream_gene_variant PACA-AU 21 17168431 17168431 single base substitution G C intron_variant PACA-AU 21 17168431 17168431 single base substitution G C upstream_gene_variant PACA-AU 21 17180557 17180557 single base substitution T C downstream_gene_variant PACA-AU 21 17180557 17180557 single base substitution T C intron_variant PACA-AU 21 17190428 17190428 single base substitution C T intron_variant PACA-AU 21 17197357 17197357 single base substitution G A intron_variant PACA-AU 21 17197357 17197357 single base substitution G A synonymous_variant T427T 1281G>A PACA-AU 21 17197357 17197357 single base substitution G A synonymous_variant T9T 27G>A PACA-AU 21 17204888 17204888 single base substitution A G intron_variant PACA-AU 21 17205600 17205600 single base substitution T C intron_variant PACA-AU 21 17210699 17210699 single base substitution A C intron_variant PACA-AU 21 17210699 17210699 single base substitution A C upstream_gene_variant PACA-AU 21 17211939 17211939 single base substitution T A intron_variant PACA-AU 21 17211939 17211939 single base substitution T A upstream_gene_variant PACA-AU 21 17213765 17213765 single base substitution A T intron_variant PACA-AU 21 17213765 17213765 single base substitution A T upstream_gene_variant PACA-AU 21 17219905 17219905 insertion of <=200bp - TATA intron_variant PACA-AU 21 17221656 17221656 single base substitution G T intron_variant PACA-AU 21 17222624 17222624 single base substitution T A intron_variant PACA-AU 21 17223215 17223215 single base substitution G C intron_variant PACA-AU 21 17229385 17229385 single base substitution C T intron_variant PACA-AU 21 17232312 17232312 single base substitution T A intron_variant PACA-AU 21 17233459 17233459 single base substitution A C intron_variant PACA-AU 21 17233607 17233607 deletion of <=200bp T - intron_variant PACA-AU 21 17233940 17233940 single base substitution A T intron_variant PACA-AU 21 17236170 17236170 single base substitution A G intron_variant PACA-AU 21 17237323 17237323 single base substitution A G intron_variant PACA-AU 21 17238539 17238539 single base substitution T C intron_variant PACA-AU 21 17240512 17240512 single base substitution C T intron_variant PACA-AU 21 17245534 17245534 single base substitution G A intron_variant PACA-AU 21 17245534 17245534 single base substitution G A upstream_gene_variant PACA-AU 21 17250388 17250388 single base substitution C T downstream_gene_variant PACA-AU 21 17250388 17250388 single base substitution C T intron_variant PACA-CA 21 17097945 17097945 single base substitution A C upstream_gene_variant PACA-CA 21 17099257 17099257 single base substitution G A upstream_gene_variant PACA-CA 21 17099327 17099327 single base substitution G A upstream_gene_variant PACA-CA 21 17102000 17102000 single base substitution G A upstream_gene_variant PACA-CA 21 17102321 17102321 single base substitution C T upstream_gene_variant PACA-CA 21 17102943 17102944 deletion of <=200bp GT - intron_variant PACA-CA 21 17110495 17110495 single base substitution A G intron_variant PACA-CA 21 17112342 17112342 single base substitution T A intron_variant PACA-CA 21 17112479 17112479 single base substitution T C intron_variant PACA-CA 21 17116887 17116887 single base substitution C A intron_variant PACA-CA 21 17120603 17120603 insertion of <=200bp - A intron_variant PACA-CA 21 17128885 17128885 single base substitution T C intron_variant PACA-CA 21 17131469 17131469 single base substitution A T intron_variant PACA-CA 21 17134192 17134192 single base substitution G A intron_variant PACA-CA 21 17140134 17140134 single base substitution G A intron_variant PACA-CA 21 17141360 17141360 single base substitution T C intron_variant PACA-CA 21 17141360 17141360 single base substitution T C upstream_gene_variant PACA-CA 21 17141600 17141600 single base substitution T G intron_variant PACA-CA 21 17141600 17141600 single base substitution T G upstream_gene_variant PACA-CA 21 17143430 17143430 single base substitution T C intron_variant PACA-CA 21 17143430 17143430 single base substitution T C upstream_gene_variant PACA-CA 21 17144973 17144973 single base substitution A C intron_variant PACA-CA 21 17144973 17144973 single base substitution A C upstream_gene_variant PACA-CA 21 17146614 17146614 single base substitution G T intron_variant PACA-CA 21 17159665 17159665 single base substitution C T intron_variant PACA-CA 21 17159774 17159774 single base substitution C T intron_variant PACA-CA 21 17163968 17163968 single base substitution T G exon_variant PACA-CA 21 17163968 17163968 single base substitution T G missense_variant F180L 540T>G PACA-CA 21 17164592 17164592 single base substitution C T intron_variant PACA-CA 21 17171266 17171266 single base substitution C T intron_variant PACA-CA 21 17171266 17171266 single base substitution C T upstream_gene_variant PACA-CA 21 17172178 17172178 deletion of <=200bp T - intron_variant PACA-CA 21 17176315 17176315 single base substitution C T intron_variant PACA-CA 21 17178428 17178428 single base substitution A T downstream_gene_variant PACA-CA 21 17178428 17178428 single base substitution A T intron_variant PACA-CA 21 17179181 17179181 single base substitution A T downstream_gene_variant PACA-CA 21 17179181 17179181 single base substitution A T intron_variant PACA-CA 21 17180709 17180709 single base substitution C G downstream_gene_variant PACA-CA 21 17180709 17180709 single base substitution C G intron_variant PACA-CA 21 17186688 17186688 single base substitution T C intron_variant PACA-CA 21 17188468 17188468 single base substitution G A intron_variant PACA-CA 21 17192691 17192691 single base substitution T C downstream_gene_variant PACA-CA 21 17192691 17192691 single base substitution T C intron_variant PACA-CA 21 17192691 17192691 single base substitution T C upstream_gene_variant PACA-CA 21 17193052 17193052 insertion of <=200bp - TT downstream_gene_variant PACA-CA 21 17193052 17193052 insertion of <=200bp - TT intron_variant PACA-CA 21 17193052 17193052 insertion of <=200bp - TT upstream_gene_variant PACA-CA 21 17193691 17193691 single base substitution A G downstream_gene_variant PACA-CA 21 17193691 17193691 single base substitution A G intron_variant PACA-CA 21 17193691 17193691 single base substitution A G upstream_gene_variant PACA-CA 21 17198975 17198975 single base substitution A T intron_variant PACA-CA 21 17199046 17199046 single base substitution C T intron_variant PACA-CA 21 17207897 17207897 single base substitution G T downstream_gene_variant PACA-CA 21 17207897 17207897 single base substitution G T intron_variant PACA-CA 21 17208665 17208665 single base substitution G A downstream_gene_variant PACA-CA 21 17208665 17208665 single base substitution G A intron_variant PACA-CA 21 17208848 17208848 single base substitution G A downstream_gene_variant PACA-CA 21 17208848 17208848 single base substitution G A intron_variant PACA-CA 21 17214031 17214031 single base substitution T C intron_variant PACA-CA 21 17214031 17214031 single base substitution T C upstream_gene_variant PACA-CA 21 17214778 17214778 single base substitution C T intron_variant PACA-CA 21 17214778 17214778 single base substitution C T synonymous_variant H752H 2256C>T PACA-CA 21 17214778 17214778 single base substitution C T upstream_gene_variant PACA-CA 21 17216580 17216580 single base substitution C T intron_variant PACA-CA 21 17218234 17218234 single base substitution A G intron_variant PACA-CA 21 17218605 17218605 single base substitution C A intron_variant PACA-CA 21 17222173 17222173 single base substitution T G intron_variant PACA-CA 21 17222173 17222173 single base substitution T G synonymous_variant P71P 213T>G PACA-CA 21 17222173 17222173 single base substitution T G synonymous_variant P805P 2415T>G PACA-CA 21 17222173 17222173 single base substitution T G synonymous_variant P843P 2529T>G PACA-CA 21 17226699 17226725 deletion of <=200bp GTGATCTGCCCTCTTCGGCCTCCCAAA - intron_variant PACA-CA 21 17226754 17226754 single base substitution C G intron_variant PACA-CA 21 17226850 17226850 single base substitution T C intron_variant PACA-CA 21 17227242 17227242 insertion of <=200bp - A intron_variant PACA-CA 21 17233292 17233292 single base substitution T G intron_variant PACA-CA 21 17233296 17233296 single base substitution G T intron_variant PACA-CA 21 17235650 17235650 single base substitution T A intron_variant PACA-CA 21 17235654 17235654 single base substitution T A intron_variant PACA-CA 21 17238541 17238541 single base substitution C T intron_variant PACA-CA 21 17241887 17241887 single base substitution C T intron_variant PACA-CA 21 17244768 17244768 single base substitution T C intron_variant PACA-CA 21 17244768 17244768 single base substitution T C upstream_gene_variant PACA-CA 21 17244927 17244927 deletion of <=200bp T - intron_variant PACA-CA 21 17244927 17244927 deletion of <=200bp T - upstream_gene_variant PACA-CA 21 17255800 17255800 single base substitution C T downstream_gene_variant PACA-CA 21 17255835 17255835 single base substitution G A downstream_gene_variant PAEN-AU 21 17108303 17108303 single base substitution G A intron_variant PAEN-AU 21 17135776 17135776 single base substitution T G intron_variant PAEN-AU 21 17141028 17141028 single base substitution A G intron_variant PAEN-AU 21 17141028 17141028 single base substitution A G upstream_gene_variant PAEN-AU 21 17165124 17165124 single base substitution G A intron_variant PAEN-AU 21 17239814 17239814 single base substitution A G intron_variant PAEN-AU 21 17254332 17254332 single base substitution C G downstream_gene_variant PAEN-AU 21 17255006 17255006 single base substitution C T downstream_gene_variant PAEN-AU 21 17257100 17257100 single base substitution C G downstream_gene_variant PAEN-IT 21 17161909 17161909 single base substitution A G intron_variant PAEN-IT 21 17196221 17196221 single base substitution G T intron_variant PAEN-IT 21 17196221 17196221 single base substitution G T upstream_gene_variant PAEN-IT 21 17214034 17214034 single base substitution G T intron_variant PAEN-IT 21 17214034 17214034 single base substitution G T upstream_gene_variant PBCA-DE 21 17102132 17102132 single base substitution G A upstream_gene_variant PBCA-DE 21 17109852 17109852 single base substitution G C intron_variant PBCA-DE 21 17122501 17122502 deletion of <=200bp GT - intron_variant PBCA-DE 21 17124262 17124262 single base substitution A T intron_variant PBCA-DE 21 17126073 17126073 deletion of <=200bp T - intron_variant PBCA-DE 21 17126086 17126088 deletion of <=200bp GAC - intron_variant PBCA-DE 21 17140286 17140286 deletion of <=200bp A - intron_variant PBCA-DE 21 17147486 17147486 insertion of <=200bp - A intron_variant PBCA-DE 21 17150356 17150356 single base substitution T A intron_variant PBCA-DE 21 17156026 17156026 single base substitution C G intron_variant PBCA-DE 21 17160488 17160488 insertion of <=200bp - T intron_variant PBCA-DE 21 17174569 17174569 single base substitution G A intron_variant PBCA-DE 21 17189168 17189168 single base substitution C A intron_variant PBCA-DE 21 17193529 17193529 single base substitution G A downstream_gene_variant PBCA-DE 21 17193529 17193529 single base substitution G A intron_variant PBCA-DE 21 17193529 17193529 single base substitution G A upstream_gene_variant PBCA-DE 21 17196110 17196110 single base substitution C T intron_variant PBCA-DE 21 17196110 17196110 single base substitution C T upstream_gene_variant PBCA-DE 21 17203605 17203605 deletion of <=200bp A - intron_variant PBCA-DE 21 17209752 17209752 insertion of <=200bp - T downstream_gene_variant PBCA-DE 21 17209752 17209752 insertion of <=200bp - T intron_variant PBCA-DE 21 17211824 17211824 single base substitution G C intron_variant PBCA-DE 21 17211824 17211824 single base substitution G C upstream_gene_variant PBCA-DE 21 17213825 17213825 single base substitution G T intron_variant PBCA-DE 21 17213825 17213825 single base substitution G T upstream_gene_variant PBCA-DE 21 17214457 17214457 deletion of <=200bp A - intron_variant PBCA-DE 21 17214457 17214457 deletion of <=200bp A - upstream_gene_variant PBCA-DE 21 17222285 17222287 deletion of <=200bp ATA - intron_variant PBCA-DE 21 17222565 17222565 single base substitution G T intron_variant PBCA-DE 21 17233290 17233290 single base substitution T G intron_variant PBCA-DE 21 17233294 17233294 single base substitution T G intron_variant PBCA-DE 21 17235026 17235026 single base substitution T G intron_variant PBCA-DE 21 17238351 17238351 single base substitution T C intron_variant PBCA-DE 21 17238522 17238523 deletion of <=200bp AT - intron_variant PBCA-DE 21 17249786 17249786 single base substitution T G downstream_gene_variant PBCA-DE 21 17249786 17249786 single base substitution T G exon_variant PBCA-DE 21 17249786 17249786 single base substitution T G intron_variant PBCA-DE 21 17252254 17252254 single base substitution A G 3_prime_UTR_variant PBCA-DE 21 17252254 17252254 single base substitution A G downstream_gene_variant PBCA-DE 21 17255823 17255823 single base substitution C T downstream_gene_variant PRAD-CA 21 17103082 17103082 single base substitution A G intron_variant PRAD-CA 21 17116543 17116543 single base substitution G A intron_variant PRAD-CA 21 17139853 17139853 single base substitution C G intron_variant PRAD-CA 21 17143525 17143525 single base substitution C A intron_variant PRAD-CA 21 17143525 17143525 single base substitution C A upstream_gene_variant PRAD-CA 21 17144209 17144209 single base substitution T C intron_variant PRAD-CA 21 17144209 17144209 single base substitution T C upstream_gene_variant PRAD-CA 21 17196044 17196044 single base substitution C G downstream_gene_variant PRAD-CA 21 17196044 17196044 single base substitution C G intron_variant PRAD-CA 21 17196044 17196044 single base substitution C G upstream_gene_variant PRAD-CA 21 17197213 17197213 single base substitution C T intron_variant PRAD-CA 21 17197213 17197213 single base substitution C T upstream_gene_variant PRAD-CA 21 17197647 17197647 single base substitution C A intron_variant PRAD-CA 21 17207538 17207538 single base substitution G T downstream_gene_variant PRAD-CA 21 17207538 17207538 single base substitution G T intron_variant PRAD-UK 21 17099072 17099072 single base substitution T C upstream_gene_variant PRAD-UK 21 17104913 17104913 single base substitution A T intron_variant PRAD-UK 21 17110152 17110152 insertion of <=200bp - T intron_variant PRAD-UK 21 17118070 17118070 single base substitution C G intron_variant PRAD-UK 21 17126960 17126960 single base substitution A G intron_variant PRAD-UK 21 17135371 17135371 single base substitution T G intron_variant PRAD-UK 21 17148991 17148991 single base substitution A T intron_variant PRAD-UK 21 17152117 17152117 single base substitution A G intron_variant PRAD-UK 21 17165537 17165540 deletion of <=200bp AAGA - intron_variant PRAD-UK 21 17179245 17179245 single base substitution G A downstream_gene_variant PRAD-UK 21 17179245 17179245 single base substitution G A intron_variant PRAD-UK 21 17204003 17204003 single base substitution T G intron_variant PRAD-UK 21 17206550 17206550 single base substitution A G downstream_gene_variant PRAD-UK 21 17206550 17206550 single base substitution A G intron_variant PRAD-UK 21 17213152 17213152 single base substitution C T intron_variant PRAD-UK 21 17213152 17213152 single base substitution C T upstream_gene_variant PRAD-UK 21 17220647 17220647 single base substitution C G intron_variant PRAD-UK 21 17234578 17234578 single base substitution C G intron_variant PRAD-UK 21 17256356 17256356 single base substitution A G downstream_gene_variant READ-US 21 17135219 17135219 single base substitution A C missense_variant T19P 55A>C READ-US 21 17150246 17150246 single base substitution G T exon_variant READ-US 21 17150246 17150246 single base substitution G T missense_variant D98Y 292G>T READ-US 21 17163933 17163933 single base substitution G A exon_variant READ-US 21 17163933 17163933 single base substitution G A missense_variant V169I 505G>A READ-US 21 17163944 17163944 single base substitution G T exon_variant READ-US 21 17163944 17163944 single base substitution G T missense_variant K172N 516G>T READ-US 21 17172152 17172152 single base substitution G A exon_variant READ-US 21 17172152 17172152 single base substitution G A missense_variant R211Q 632G>A READ-US 21 17246810 17246810 single base substitution G T stop_gained E220* 658G>T READ-US 21 17246810 17246810 single base substitution G T stop_gained E317* 949G>T READ-US 21 17246810 17246810 single base substitution G T stop_gained E922* 2764G>T READ-US 21 17246810 17246810 single base substitution G T stop_gained E954* 2860G>T READ-US 21 17246810 17246810 single base substitution G T stop_gained E992* 2974G>T READ-US 21 17246810 17246810 single base substitution G T upstream_gene_variant RECA-EU 21 17119224 17119224 single base substitution T C intron_variant RECA-EU 21 17136089 17136089 single base substitution A G intron_variant RECA-EU 21 17150998 17150998 single base substitution A T intron_variant RECA-EU 21 17167074 17167074 single base substitution G T intron_variant RECA-EU 21 17167074 17167074 single base substitution G T upstream_gene_variant RECA-EU 21 17168204 17168204 single base substitution T A intron_variant RECA-EU 21 17168204 17168204 single base substitution T A upstream_gene_variant RECA-EU 21 17172854 17172854 single base substitution T A intron_variant RECA-EU 21 17172904 17172904 single base substitution T G intron_variant RECA-EU 21 17180045 17180045 single base substitution T A downstream_gene_variant RECA-EU 21 17180045 17180045 single base substitution T A intron_variant RECA-EU 21 17180746 17180746 single base substitution A C downstream_gene_variant RECA-EU 21 17180746 17180746 single base substitution A C intron_variant RECA-EU 21 17181007 17181007 single base substitution T A downstream_gene_variant RECA-EU 21 17181007 17181007 single base substitution T A intron_variant RECA-EU 21 17184261 17184261 single base substitution T C intron_variant RECA-EU 21 17188517 17188517 single base substitution T G intron_variant RECA-EU 21 17193023 17193023 single base substitution C G downstream_gene_variant RECA-EU 21 17193023 17193023 single base substitution C G intron_variant RECA-EU 21 17193023 17193023 single base substitution C G upstream_gene_variant RECA-EU 21 17200828 17200828 single base substitution T C intron_variant RECA-EU 21 17214065 17214065 single base substitution C G intron_variant RECA-EU 21 17214065 17214065 single base substitution C G upstream_gene_variant RECA-EU 21 17214572 17214572 single base substitution A C intron_variant RECA-EU 21 17214572 17214572 single base substitution A C upstream_gene_variant RECA-EU 21 17218297 17218297 single base substitution G A intron_variant RECA-EU 21 17219878 17219878 single base substitution A T intron_variant RECA-EU 21 17241600 17241600 single base substitution A G intron_variant RECA-EU 21 17241908 17241908 single base substitution A T intron_variant RECA-EU 21 17245801 17245801 single base substitution A T intron_variant RECA-EU 21 17245801 17245801 single base substitution A T upstream_gene_variant RECA-EU 21 17255434 17255434 single base substitution G T downstream_gene_variant SKCA-BR 21 17097489 17097489 single base substitution G A upstream_gene_variant SKCA-BR 21 17098125 17098125 single base substitution C T upstream_gene_variant SKCA-BR 21 17102133 17102133 single base substitution A G upstream_gene_variant SKCA-BR 21 17105703 17105703 single base substitution C A intron_variant SKCA-BR 21 17109756 17109756 single base substitution C T intron_variant SKCA-BR 21 17114843 17114843 single base substitution C G intron_variant SKCA-BR 21 17116696 17116696 single base substitution A T intron_variant SKCA-BR 21 17117150 17117150 single base substitution A C intron_variant SKCA-BR 21 17117199 17117199 single base substitution A C intron_variant SKCA-BR 21 17118944 17118944 single base substitution G A intron_variant SKCA-BR 21 17118945 17118945 single base substitution G A intron_variant SKCA-BR 21 17119579 17119579 single base substitution C T intron_variant SKCA-BR 21 17120798 17120800 deletion of <=200bp TTG - intron_variant SKCA-BR 21 17122543 17122543 single base substitution T G intron_variant SKCA-BR 21 17123047 17123047 single base substitution T G intron_variant SKCA-BR 21 17125611 17125611 single base substitution C T intron_variant SKCA-BR 21 17134648 17134648 single base substitution C T intron_variant SKCA-BR 21 17141125 17141125 single base substitution A G intron_variant SKCA-BR 21 17141125 17141125 single base substitution A G upstream_gene_variant SKCA-BR 21 17141131 17141131 single base substitution A T intron_variant SKCA-BR 21 17141131 17141131 single base substitution A T upstream_gene_variant SKCA-BR 21 17141136 17141136 single base substitution C T intron_variant SKCA-BR 21 17141136 17141136 single base substitution C T upstream_gene_variant SKCA-BR 21 17141146 17141146 single base substitution C T intron_variant SKCA-BR 21 17141146 17141146 single base substitution C T upstream_gene_variant SKCA-BR 21 17143444 17143444 single base substitution A G intron_variant SKCA-BR 21 17143444 17143444 single base substitution A G upstream_gene_variant SKCA-BR 21 17144297 17144297 single base substitution C T intron_variant SKCA-BR 21 17144297 17144297 single base substitution C T upstream_gene_variant SKCA-BR 21 17148058 17148058 insertion of <=200bp - ACCG intron_variant SKCA-BR 21 17148074 17148074 single base substitution G C intron_variant SKCA-BR 21 17155512 17155512 single base substitution A T intron_variant SKCA-BR 21 17155813 17155813 single base substitution G C intron_variant SKCA-BR 21 17160161 17160161 single base substitution C T intron_variant SKCA-BR 21 17164145 17164145 single base substitution C T intron_variant SKCA-BR 21 17179119 17179119 single base substitution G A downstream_gene_variant SKCA-BR 21 17179119 17179119 single base substitution G A intron_variant SKCA-BR 21 17179868 17179868 single base substitution C T downstream_gene_variant SKCA-BR 21 17179868 17179868 single base substitution C T intron_variant SKCA-BR 21 17180568 17180568 single base substitution C T downstream_gene_variant SKCA-BR 21 17180568 17180568 single base substitution C T intron_variant SKCA-BR 21 17181146 17181146 single base substitution A G downstream_gene_variant SKCA-BR 21 17181146 17181146 single base substitution A G exon_variant SKCA-BR 21 17181146 17181146 single base substitution A G intron_variant SKCA-BR 21 17181146 17181146 single base substitution A G missense_variant T267A 799A>G SKCA-BR 21 17183244 17183244 single base substitution T G intron_variant SKCA-BR 21 17184306 17184306 single base substitution G A intron_variant SKCA-BR 21 17184732 17184732 single base substitution C T intron_variant SKCA-BR 21 17185544 17185544 single base substitution C T intron_variant SKCA-BR 21 17187668 17187668 single base substitution C G intron_variant SKCA-BR 21 17188244 17188244 single base substitution T A intron_variant SKCA-BR 21 17189492 17189493 deletion of <=200bp CA - intron_variant SKCA-BR 21 17189733 17189733 single base substitution A G intron_variant SKCA-BR 21 17189871 17189871 single base substitution C T intron_variant SKCA-BR 21 17194414 17194414 single base substitution A G downstream_gene_variant SKCA-BR 21 17194414 17194414 single base substitution A G intron_variant SKCA-BR 21 17194414 17194414 single base substitution A G upstream_gene_variant SKCA-BR 21 17196794 17196794 single base substitution G A intron_variant SKCA-BR 21 17196794 17196794 single base substitution G A upstream_gene_variant SKCA-BR 21 17203537 17203537 single base substitution C T intron_variant SKCA-BR 21 17203538 17203538 single base substitution C T intron_variant SKCA-BR 21 17203723 17203723 single base substitution C T intron_variant SKCA-BR 21 17203723 17203723 single base substitution C T missense_variant P118S 352C>T SKCA-BR 21 17203723 17203723 single base substitution C T missense_variant P590S 1768C>T SKCA-BR 21 17205620 17205620 single base substitution C T intron_variant SKCA-BR 21 17206826 17206826 single base substitution C T downstream_gene_variant SKCA-BR 21 17206826 17206826 single base substitution C T intron_variant SKCA-BR 21 17207134 17207134 single base substitution T G downstream_gene_variant SKCA-BR 21 17207134 17207134 single base substitution T G intron_variant SKCA-BR 21 17207171 17207171 single base substitution A C downstream_gene_variant SKCA-BR 21 17207171 17207171 single base substitution A C intron_variant SKCA-BR 21 17209002 17209002 single base substitution G C downstream_gene_variant SKCA-BR 21 17209002 17209002 single base substitution G C intron_variant SKCA-BR 21 17209077 17209077 single base substitution T G downstream_gene_variant SKCA-BR 21 17209077 17209077 single base substitution T G intron_variant SKCA-BR 21 17210611 17210611 single base substitution C T downstream_gene_variant SKCA-BR 21 17210611 17210611 single base substitution C T intron_variant SKCA-BR 21 17210611 17210611 single base substitution C T upstream_gene_variant SKCA-BR 21 17210838 17210838 single base substitution C T intron_variant SKCA-BR 21 17210838 17210838 single base substitution C T upstream_gene_variant SKCA-BR 21 17218475 17218475 single base substitution A T intron_variant SKCA-BR 21 17223755 17223755 single base substitution A C intron_variant SKCA-BR 21 17224241 17224241 single base substitution C T intron_variant SKCA-BR 21 17224676 17224676 single base substitution C T intron_variant SKCA-BR 21 17225950 17225950 single base substitution A T intron_variant SKCA-BR 21 17228797 17228797 insertion of <=200bp - CT intron_variant SKCA-BR 21 17229132 17229132 single base substitution C T intron_variant SKCA-BR 21 17229185 17229185 single base substitution C T intron_variant SKCA-BR 21 17230297 17230309 deletion of <=200bp TTATACTTAATGA - intron_variant SKCA-BR 21 17233290 17233290 insertion of <=200bp - TAGAG intron_variant SKCA-BR 21 17233872 17233872 single base substitution A C intron_variant SKCA-BR 21 17234563 17234563 single base substitution A T intron_variant SKCA-BR 21 17235000 17235000 single base substitution T A intron_variant SKCA-BR 21 17235091 17235091 single base substitution C T intron_variant SKCA-BR 21 17243106 17243106 single base substitution G A intron_variant SKCA-BR 21 17243442 17243442 single base substitution G A intron_variant SKCA-BR 21 17243442 17243442 single base substitution G A upstream_gene_variant SKCA-BR 21 17244263 17244263 single base substitution T G intron_variant SKCA-BR 21 17244263 17244263 single base substitution T G upstream_gene_variant SKCA-BR 21 17244333 17244344 deletion of <=200bp GTTTTTTTTTTT - intron_variant SKCA-BR 21 17244333 17244344 deletion of <=200bp GTTTTTTTTTTT - upstream_gene_variant SKCA-BR 21 17244958 17244958 single base substitution C T intron_variant SKCA-BR 21 17244958 17244958 single base substitution C T upstream_gene_variant SKCA-BR 21 17247629 17247629 single base substitution C T downstream_gene_variant SKCA-BR 21 17247629 17247629 single base substitution C T intron_variant SKCA-BR 21 17247629 17247629 single base substitution C T upstream_gene_variant SKCA-BR 21 17247630 17247630 single base substitution C T downstream_gene_variant SKCA-BR 21 17247630 17247630 single base substitution C T intron_variant SKCA-BR 21 17247630 17247630 single base substitution C T upstream_gene_variant SKCA-BR 21 17253845 17253845 single base substitution C T downstream_gene_variant SKCA-BR 21 17254335 17254335 single base substitution C T downstream_gene_variant SKCA-BR 21 17254363 17254363 single base substitution C T downstream_gene_variant SKCA-BR 21 17254860 17254860 single base substitution T C downstream_gene_variant SKCA-BR 21 17255274 17255274 single base substitution C T downstream_gene_variant SKCM-US 21 17138385 17138385 single base substitution G A missense_variant E65K 193G>A SKCM-US 21 17163931 17163931 single base substitution C T exon_variant SKCM-US 21 17163931 17163931 single base substitution C T missense_variant P168L 503C>T SKCM-US 21 17183476 17183476 single base substitution A G exon_variant SKCM-US 21 17183476 17183476 single base substitution A G intron_variant SKCM-US 21 17183476 17183476 single base substitution A G missense_variant N293S 878A>G SKCM-US 21 17191061 17191061 single base substitution C T downstream_gene_variant SKCM-US 21 17191061 17191061 single base substitution C T intron_variant SKCM-US 21 17191061 17191061 single base substitution C T stop_gained Q326* 976C>T SKCM-US 21 17191139 17191139 single base substitution G A downstream_gene_variant SKCM-US 21 17191139 17191139 single base substitution G A intron_variant SKCM-US 21 17191139 17191139 single base substitution G A missense_variant E352K 1054G>A SKCM-US 21 17191160 17191160 single base substitution C T downstream_gene_variant SKCM-US 21 17191160 17191160 single base substitution C T intron_variant SKCM-US 21 17191160 17191160 single base substitution C T stop_gained Q359* 1075C>T SKCM-US 21 17196463 17196463 single base substitution C T intron_variant SKCM-US 21 17196463 17196463 single base substitution C T missense_variant P396S 1186C>T SKCM-US 21 17196463 17196463 single base substitution C T upstream_gene_variant SKCM-US 21 17197380 17197380 single base substitution G A intron_variant SKCM-US 21 17197380 17197380 single base substitution G A missense_variant R435K 1304G>A SKCM-US 21 17197380 17197380 single base substitution G A missense_variant S17N 50G>A SKCM-US 21 17199318 17199318 single base substitution C T intron_variant SKCM-US 21 17199318 17199318 single base substitution C T synonymous_variant L25L 73C>T SKCM-US 21 17199318 17199318 single base substitution C T synonymous_variant L497L 1489C>T SKCM-US 21 17199325 17199325 single base substitution C T intron_variant SKCM-US 21 17199325 17199325 single base substitution C T missense_variant S27L 80C>T SKCM-US 21 17199325 17199325 single base substitution C T missense_variant S499L 1496C>T SKCM-US 21 17246733 17246733 single base substitution C T missense_variant S194F 581C>T SKCM-US 21 17246733 17246733 single base substitution C T missense_variant S291F 872C>T SKCM-US 21 17246733 17246733 single base substitution C T missense_variant S896F 2687C>T SKCM-US 21 17246733 17246733 single base substitution C T missense_variant S928F 2783C>T SKCM-US 21 17246733 17246733 single base substitution C T missense_variant S966F 2897C>T SKCM-US 21 17246733 17246733 single base substitution C T upstream_gene_variant SKCM-US 21 17246820 17246820 single base substitution C T missense_variant S223L 668C>T SKCM-US 21 17246820 17246820 single base substitution C T missense_variant S320L 959C>T SKCM-US 21 17246820 17246820 single base substitution C T missense_variant S925L 2774C>T SKCM-US 21 17246820 17246820 single base substitution C T missense_variant S957L 2870C>T SKCM-US 21 17246820 17246820 single base substitution C T missense_variant S995L 2984C>T SKCM-US 21 17246820 17246820 single base substitution C T upstream_gene_variant SKCM-US 21 17250265 17250265 single base substitution G A downstream_gene_variant SKCM-US 21 17250265 17250265 single base substitution G A exon_variant SKCM-US 21 17250265 17250265 single base substitution G A missense_variant D1016N 3046G>A SKCM-US 21 17250265 17250265 single base substitution G A missense_variant D1054N 3160G>A SKCM-US 21 17250265 17250265 single base substitution G A missense_variant D379N 1135G>A SKCM-US 21 17250265 17250265 single base substitution G A missense_variant D984N 2950G>A SKCM-US 21 17250673 17250673 single base substitution C T downstream_gene_variant SKCM-US 21 17250673 17250673 single base substitution C T exon_variant SKCM-US 21 17250673 17250673 single base substitution C T missense_variant S1016F 3047C>T SKCM-US 21 17250673 17250673 single base substitution C T missense_variant S1048F 3143C>T SKCM-US 21 17250673 17250673 single base substitution C T missense_variant S1086F 3257C>T SKCM-US 21 17250673 17250673 single base substitution C T missense_variant S411F 1232C>T SKCM-US 21 17250704 17250704 single base substitution G A downstream_gene_variant SKCM-US 21 17250704 17250704 single base substitution G A exon_variant SKCM-US 21 17250704 17250704 single base substitution G A synonymous_variant P1026P 3078G>A SKCM-US 21 17250704 17250704 single base substitution G A synonymous_variant P1058P 3174G>A SKCM-US 21 17250704 17250704 single base substitution G A synonymous_variant P1096P 3288G>A SKCM-US 21 17250704 17250704 single base substitution G A synonymous_variant P421P 1263G>A STAD-US 21 17172081 17172081 single base substitution A T exon_variant STAD-US 21 17172081 17172081 single base substitution A T missense_variant L187F 561A>T STAD-US 21 17172100 17172100 single base substitution A G exon_variant STAD-US 21 17172100 17172100 single base substitution A G missense_variant R194G 580A>G STAD-US 21 17177457 17177457 deletion of <=200bp T - exon_variant STAD-US 21 17177457 17177457 deletion of <=200bp T - frameshift_variant P220 STAD-US 21 17191019 17191019 deletion of <=200bp A - frameshift_variant K312 STAD-US 21 17191019 17191019 deletion of <=200bp A - intron_variant STAD-US 21 17191019 17191019 deletion of <=200bp A - splice_region_variant STAD-US 21 17191087 17191087 single base substitution T C downstream_gene_variant STAD-US 21 17191087 17191087 single base substitution T C intron_variant STAD-US 21 17191087 17191087 single base substitution T C synonymous_variant H334H 1002T>C STAD-US 21 17199417 17199417 single base substitution G T intron_variant STAD-US 21 17199417 17199417 single base substitution G T missense_variant D530Y 1588G>T STAD-US 21 17199417 17199417 single base substitution G T missense_variant D58Y 172G>T STAD-US 21 17202863 17202863 single base substitution C T intron_variant STAD-US 21 17202863 17202863 single base substitution C T synonymous_variant S569S 1707C>T STAD-US 21 17202863 17202863 single base substitution C T synonymous_variant S97S 291C>T STAD-US 21 17203831 17203831 single base substitution A T intron_variant STAD-US 21 17203831 17203831 single base substitution A T missense_variant I154F 460A>T STAD-US 21 17203831 17203831 single base substitution A T missense_variant I626F 1876A>T STAD-US 21 17205809 17205809 single base substitution G A downstream_gene_variant STAD-US 21 17205809 17205809 single base substitution G A intron_variant STAD-US 21 17205809 17205809 single base substitution G A synonymous_variant L712L 2136G>A STAD-US 21 17250724 17250724 single base substitution C T downstream_gene_variant STAD-US 21 17250724 17250724 single base substitution C T exon_variant STAD-US 21 17250724 17250724 single base substitution C T missense_variant T1033M 3098C>T STAD-US 21 17250724 17250724 single base substitution C T missense_variant T1065M 3194C>T STAD-US 21 17250724 17250724 single base substitution C T missense_variant T1103M 3308C>T STAD-US 21 17250724 17250724 single base substitution C T missense_variant T428M 1283C>T UCEC-US 21 17135240 17135240 single base substitution G T stop_gained E26* 76G>T UCEC-US 21 17163895 17163895 single base substitution G A exon_variant UCEC-US 21 17163895 17163895 single base substitution G A missense_variant R156Q 467G>A UCEC-US 21 17163915 17163915 single base substitution A C exon_variant UCEC-US 21 17163915 17163915 single base substitution A C synonymous_variant R163R 487A>C UCEC-US 21 17177445 17177445 single base substitution T A exon_variant UCEC-US 21 17177445 17177445 single base substitution T A missense_variant H216Q 648T>A UCEC-US 21 17177486 17177486 single base substitution C T exon_variant UCEC-US 21 17177486 17177486 single base substitution C T missense_variant A230V 689C>T UCEC-US 21 17183474 17183474 single base substitution G T exon_variant UCEC-US 21 17183474 17183474 single base substitution G T intron_variant UCEC-US 21 17183474 17183474 single base substitution G T missense_variant K292N 876G>T UCEC-US 21 17191118 17191118 single base substitution G T downstream_gene_variant UCEC-US 21 17191118 17191118 single base substitution G T intron_variant UCEC-US 21 17191118 17191118 single base substitution G T stop_gained E345* 1033G>T UCEC-US 21 17191141 17191141 single base substitution G T downstream_gene_variant UCEC-US 21 17191141 17191141 single base substitution G T intron_variant UCEC-US 21 17191141 17191141 single base substitution G T missense_variant E352D 1056G>T UCEC-US 21 17196404 17196404 single base substitution G A intron_variant UCEC-US 21 17196404 17196404 single base substitution G A missense_variant R376K 1127G>A UCEC-US 21 17196404 17196404 single base substitution G A upstream_gene_variant UCEC-US 21 17197304 17197304 single base substitution G A intron_variant UCEC-US 21 17197304 17197304 single base substitution G A missense_variant E410K 1228G>A UCEC-US 21 17197304 17197304 single base substitution G A upstream_gene_variant UCEC-US 21 17197307 17197307 single base substitution A C intron_variant UCEC-US 21 17197307 17197307 single base substitution A C missense_variant I411L 1231A>C UCEC-US 21 17197307 17197307 single base substitution A C upstream_gene_variant UCEC-US 21 17199507 17199507 single base substitution G T intron_variant UCEC-US 21 17199507 17199507 single base substitution G T stop_gained E560* 1678G>T UCEC-US 21 17199507 17199507 single base substitution G T stop_gained E88* 262G>T UCEC-US 21 17202852 17202852 single base substitution T C intron_variant UCEC-US 21 17202852 17202852 single base substitution T C splice_region_variant UCEC-US 21 17202857 17202857 single base substitution G A intron_variant UCEC-US 21 17202857 17202857 single base substitution G A synonymous_variant Q567Q 1701G>A UCEC-US 21 17202857 17202857 single base substitution G A synonymous_variant Q95Q 285G>A UCEC-US 21 17202887 17202887 single base substitution T G intron_variant UCEC-US 21 17202887 17202887 single base substitution T G missense_variant I105M 315T>G UCEC-US 21 17202887 17202887 single base substitution T G missense_variant I577M 1731T>G UCEC-US 21 17203730 17203730 single base substitution G A intron_variant UCEC-US 21 17203730 17203730 single base substitution G A missense_variant R120Q 359G>A UCEC-US 21 17203730 17203730 single base substitution G A missense_variant R592Q 1775G>A UCEC-US 21 17203948 17203948 single base substitution G T intron_variant UCEC-US 21 17203948 17203948 single base substitution G T stop_gained E193* 577G>T UCEC-US 21 17203948 17203948 single base substitution G T stop_gained E665* 1993G>T UCEC-US 21 17203950 17203950 single base substitution T C intron_variant UCEC-US 21 17203950 17203950 single base substitution T C splice_donor_variant UCEC-US 21 17214748 17214748 single base substitution G A intron_variant UCEC-US 21 17214748 17214748 single base substitution G A synonymous_variant E742E 2226G>A UCEC-US 21 17214748 17214748 single base substitution G A upstream_gene_variant UCEC-US 21 17214843 17214843 single base substitution A G intron_variant UCEC-US 21 17214843 17214843 single base substitution A G missense_variant E2G 5A>G UCEC-US 21 17214843 17214843 single base substitution A G missense_variant E774G 2321A>G UCEC-US 21 17236657 17236657 single base substitution G A intron_variant UCEC-US 21 17236657 17236657 single base substitution G A missense_variant R101H 302G>A UCEC-US 21 17236657 17236657 single base substitution G A missense_variant R803H 2408G>A UCEC-US 21 17236657 17236657 single base substitution G A missense_variant R835H 2504G>A UCEC-US 21 17236657 17236657 single base substitution G A missense_variant R873H 2618G>A UCEC-US 21 17236703 17236703 single base substitution G T intron_variant UCEC-US 21 17236703 17236703 single base substitution G T missense_variant K116N 348G>T UCEC-US 21 17236703 17236703 single base substitution G T missense_variant K818N 2454G>T UCEC-US 21 17236703 17236703 single base substitution G T missense_variant K850N 2550G>T UCEC-US 21 17236703 17236703 single base substitution G T missense_variant K888N 2664G>T UCEC-US 21 17246810 17246810 single base substitution G A missense_variant E220K 658G>A UCEC-US 21 17246810 17246810 single base substitution G A missense_variant E317K 949G>A UCEC-US 21 17246810 17246810 single base substitution G A missense_variant E922K 2764G>A UCEC-US 21 17246810 17246810 single base substitution G A missense_variant E954K 2860G>A UCEC-US 21 17246810 17246810 single base substitution G A missense_variant E992K 2974G>A UCEC-US 21 17246810 17246810 single base substitution G A upstream_gene_variant UCEC-US 21 17250136 17250136 single base substitution G T downstream_gene_variant UCEC-US 21 17250136 17250136 single base substitution G T exon_variant UCEC-US 21 17250136 17250136 single base substitution G T stop_gained E1011* 3031G>T UCEC-US 21 17250136 17250136 single base substitution G T stop_gained E336* 1006G>T UCEC-US 21 17250136 17250136 single base substitution G T stop_gained E941* 2821G>T UCEC-US 21 17250136 17250136 single base substitution G T stop_gained E973* 2917G>T UCEC-US 21 17250145 17250145 single base substitution G T downstream_gene_variant UCEC-US 21 17250145 17250145 single base substitution G T exon_variant UCEC-US 21 17250145 17250145 single base substitution G T stop_gained E1014* 3040G>T UCEC-US 21 17250145 17250145 single base substitution G T stop_gained E339* 1015G>T UCEC-US 21 17250145 17250145 single base substitution G T stop_gained E944* 2830G>T UCEC-US 21 17250145 17250145 single base substitution G T stop_gained E976* 2926G>T UCEC-US 21 17250738 17250738 single base substitution G T downstream_gene_variant UCEC-US 21 17250738 17250738 single base substitution G T exon_variant UCEC-US 21 17250738 17250738 single base substitution G T stop_gained E1038* 3112G>T UCEC-US 21 17250738 17250738 single base substitution G T stop_gained E1070* 3208G>T UCEC-US 21 17250738 17250738 single base substitution G T stop_gained E1108* 3322G>T UCEC-US 21 17250738 17250738 single base substitution G T stop_gained E433* 1297G>T UCEC-US 21 17250741 17250741 single base substitution C T downstream_gene_variant UCEC-US 21 17250741 17250741 single base substitution C T exon_variant UCEC-US 21 17250741 17250741 single base substitution C T stop_gained R1039* 3115C>T UCEC-US 21 17250741 17250741 single base substitution C T stop_gained R1071* 3211C>T UCEC-US 21 17250741 17250741 single base substitution C T stop_gained R1109* 3325C>T UCEC-US 21 17250741 17250741 single base substitution C T stop_gained R434* 1300C>T UCEC-US 21 17250772 17250772 single base substitution G A downstream_gene_variant UCEC-US 21 17250772 17250772 single base substitution G A exon_variant UCEC-US 21 17250772 17250772 single base substitution G A missense_variant R1049Q 3146G>A UCEC-US 21 17250772 17250772 single base substitution G A missense_variant R1081Q 3242G>A UCEC-US 21 17250772 17250772 single base substitution G A missense_variant R1119Q 3356G>A UCEC-US 21 17250772 17250772 single base substitution G A missense_variant R444Q 1331G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ESCC_BICR_034T COSM5443520 c.2858A>G p.N953S Substitution - Missense 21:15877854-15877854 + Pat_40_A COSM5858439 c.2305G>A p.E769K Substitution - Missense 21:15842508-15842508 + TCGA-EB-A551-01 COSM3549858 c.1496C>T p.S499L Substitution - Missense 21:15827006-15827006 + TCGA-DU-6407-01 COSM213440 c.2773T>C p.S925P Substitution - Missense 21:15874500-15874500 + LUAD-S01409 COSM346623 c.1168C>T p.H390Y Substitution - Missense 21:15824126-15824126 + HC9 COSM53509 c.1800A>C p.E600D Substitution - Missense 21:15831436-15831436 + CHC1545T COSM169150 c.2278A>G p.I760V Substitution - Missense 21:15842481-15842481 + sysucc-311T COSM172606 c.467G>A p.R156Q Substitution - Missense 21:15791576-15791576 + PCSI_0090_Pa_X COSM3379149 c.2256C>T p.H752H Substitution - coding silent 21:15842459-15842459 + TCGA-BS-A0UF-01 COSM1029500 c.1231A>C p.I411L Substitution - Missense 21:15824988-15824988 + PT37 COSM5921831 c.1552A>T p.I518L Substitution - Missense 21:15827062-15827062 + TCGA-B7-5816-01 COSM4100860 c.1707C>T p.S569S Substitution - coding silent 21:15830544-15830544 + TCGA-BS-A0UF-01 COSM1029516 c.2830G>T p.E944* Substitution - Nonsense 21:15877826-15877826 + TCGA-HU-A4GU-01 COSM4100858 c.1588G>T p.D530Y Substitution - Missense 21:15827098-15827098 + YULAN COSM1713848 c.397C>T p.L133F Substitution - Missense 21:15791506-15791506 + TCGA-EI-6917-01 COSM3423857 c.55A>C p.T19P Substitution - Missense 21:15762900-15762900 + TCGA-A5-A0GP-01 COSM177424 c.3146G>A p.R1049Q Substitution - Missense 21:15878453-15878453 + BD6T COSM1413407 c.1604C>T p.P535L Substitution - Missense 21:15827114-15827114 + TCGA-DI-A0WH-01 COSM1029501 c.1383T>C p.S461S Substitution - coding silent 21:15826282-15826282 + TCGA-FW-A3R5-06 COSM3911969 c.2950G>A p.D984N Substitution - Missense 21:15877946-15877946 + TCGA-CS-4943-01 COSM3972717 c.2579A>G p.N860S Substitution - Missense 21:15866328-15866328 + ESCC_31 COSM5627873 c.1694-1G>C p.? Unknown 21:15830530-15830530 + 260211 COSM3726160 c.1284A>G p.V428V Substitution - coding silent 21:15825041-15825041 + TCGA-A6-6781-01 COSM1413404 c.408C>T p.S136S Substitution - coding silent 21:15791517-15791517 + TCGA-EE-A3AF-06 COSM3549854 c.1186C>T p.P396S Substitution - Missense 21:15824144-15824144 + PD24215a COSM5796635 c.2128A>G p.K710E Substitution - Missense 21:15833482-15833482 + T2269 COSM4739730 c.953A>G p.E318G Substitution - Missense 21:15818719-15818719 + TCGA-13-0795-01 COSM76969 c.2836G>C p.G946R Substitution - Missense 21:15877832-15877832 + TCGA-BS-A0UJ-01 COSM1029505 c.1731T>G p.I577M Substitution - Missense 21:15830568-15830568 + TCGA-MI-A75I-01 COSM4930408 c.2889C>T p.V963V Substitution - coding silent 21:15877885-15877885 + TCGA-AN-A046-01 COSM3423865 c.2764G>T p.E922* Substitution - Nonsense 21:15874491-15874491 + Pat_50_A COSM5858435 c.574G>A p.E192K Substitution - Missense 21:15799775-15799775 + TCGA-BS-A0UF-01 COSM1029502 c.1678G>T p.E560* Substitution - Nonsense 21:15827188-15827188 + RMS231 COSM5561204 c.2079C>G p.N693K Substitution - Missense 21:15833433-15833433 + WSU-HN12 COSM4601038 c.2311A>G p.K771E Substitution - Missense 21:15842514-15842514 + TCGA-CJ-5679-01 COSM478446 c.2084G>A p.R695Q Substitution - Missense 21:15833438-15833438 + TCGA-66-2757-01 COSM725488 c.1281G>A p.T427T Substitution - coding silent 21:15825038-15825038 + sysucc-311T COSM5465021 c.2638T>C p.Y880H Substitution - Missense 21:15870110-15870110 + NCI-H835 COSM2840858 c.1666A>G p.R556G Substitution - Missense 21:15827176-15827176 + TCGA-B5-A0JY-01 COSM1029515 c.2821G>T p.E941* Substitution - Nonsense 21:15877817-15877817 + TCGA-CM-5864-01 COSM1413403 c.312A>G p.R104R Substitution - coding silent 21:15777947-15777947 + ME041T COSM228232 c.1070C>T p.S357L Substitution - Missense 21:15818836-15818836 + TCGA-BH-A2L8-01 COSM3841641 c.1520C>T p.S507L Substitution - Missense 21:15827030-15827030 + TCGA-AD-6889-01 COSM1413407 c.1604C>T p.P535L Substitution - Missense 21:15827114-15827114 + TCGA-AP-A0LM-01 COSM1029511 c.2408G>A p.R803H Substitution - Missense 21:15864338-15864338 + TCGA-AD-6895-01 COSM1413418 c.3083T>C p.L1028S Substitution - Missense 21:15878390-15878390 + CSCC-40-T COSM4452389 c.1823A>T p.Y608F Substitution - Missense 21:15831459-15831459 + PS-352-3D COSM4424081 c.2635A>G p.M879V Substitution - Missense 21:15870107-15870107 + TCGA-AA-A00N-01 COSM177424 c.3146G>A p.R1049Q Substitution - Missense 21:15878453-15878453 + CHC892T COSM4960217 c.919G>A p.G307R Substitution - Missense 21:15811198-15811198 + TCGA-D1-A0ZO-01 COSM1029493 c.689C>T p.A230V Substitution - Missense 21:15805167-15805167 + Pat_40_B COSM5858439 c.2305G>A p.E769K Substitution - Missense 21:15842508-15842508 + SJOS010_M COSM5023948 c.1812T>C p.N604N Substitution - coding silent 21:15831448-15831448 + SJOS010_D COSM5023948 c.1812T>C p.N604N Substitution - coding silent 21:15831448-15831448 + T96 COSM286388 c.57G>A p.T19T Substitution - coding silent 21:15762902-15762902 + CRC-03T COSM5451598 c.650G>A p.R217Q Substitution - Missense 21:15805128-15805128 + PT48 COSM5934101 c.1562C>T p.P521L Substitution - Missense 21:15827072-15827072 + ESO-718 COSM1270068 c.2945T>G p.V982G Substitution - Missense 21:15877941-15877941 + TCGA-BT-A20J-01 COSM419282 c.2436C>G p.I812M Substitution - Missense 21:15864366-15864366 + TCGA-39-5024-01 COSM725486 c.2214A>C p.P738P Substitution - coding silent 21:15842417-15842417 + TCGA-DA-A1HW-06 COSM1713850 c.503C>T p.P168L Substitution - Missense 21:15791612-15791612 + TCGA-BG-A0VX-01 COSM1029490 c.460G>A p.D154N Substitution - Missense 21:15791569-15791569 + HCC168 COSM3707985 c.2421A>G p.V807V Substitution - coding silent 21:15864351-15864351 + RK006_C02 COSM307313 c.3151delC p.P1051fs*>5 Deletion - Frameshift 21:15878458-15878458 + TCGA-D9-A1JW-06 COSM3549846 c.878A>G p.N293S Substitution - Missense 21:15811157-15811157 + YUAKER COSM1713852 c.2951A>T p.D984V Substitution - Missense 21:15877947-15877947 + TCGA-EE-A2A1-06 COSM3549852 c.1075C>T p.Q359* Substitution - Nonsense 21:15818841-15818841 + TCGA-CK-5916-01 COSM3758806 c.333C>T p.A111A Substitution - coding silent 21:15777968-15777968 + TCGA-AZ-4315-01 COSM1413408 c.1630G>T p.E544* Substitution - Nonsense 21:15827140-15827140 + YUSUBA COSM1713850 c.503C>T p.P168L Substitution - Missense 21:15791612-15791612 + HCC090T COSM4931038 c.1199A>G p.Y400C Substitution - Missense 21:15824157-15824157 + TCGA-F5-6814-01 COSM3423861 c.505G>A p.V169I Substitution - Missense 21:15791614-15791614 + SJHGG100_D COSM1413407 c.1604C>T p.P535L Substitution - Missense 21:15827114-15827114 + TCGA-B5-A11E-01 COSM1029518 c.3115C>T p.R1039* Substitution - Nonsense 21:15878422-15878422 + S02376 COSM5697096 c.1804C>G p.Q602E Substitution - Missense 21:15831440-15831440 + YUGADID COSM1713854 c.3139C>T p.L1047F Substitution - Missense 21:15878446-15878446 + TCGA-C8-A12X-01 COSM3841639 c.1485A>T p.G495G Substitution - coding silent 21:15826995-15826995 + LUAD-NYU1219 COSM370071 c.3017C>T p.T1006I Substitution - Missense 21:15878324-15878324 + LUAD-NYU408 COSM374430 c.2194G>T p.A732S Substitution - Missense 21:15833548-15833548 + TCGA-AD-6964-01 COSM1413417 c.3072G>A p.E1024E Substitution - coding silent 21:15878379-15878379 + TCGA-EE-A2MR-06 COSM3549848 c.976C>T p.Q326* Substitution - Nonsense 21:15818742-15818742 + TCGA-A2-A0YH-01 COSM444300 c.682C>G p.L228V Substitution - Missense 21:15805160-15805160 + LUAD-CHTN-Z4716A COSM362150 c.310A>T p.R104* Substitution - Nonsense 21:15777945-15777945 + TCGA-IH-A3EA-01 COSM3549856 c.1489C>T p.L497L Substitution - coding silent 21:15826999-15826999 + TCGA-CG-5721-01 COSM4100856 c.1002T>C p.H334H Substitution - coding silent 21:15818768-15818768 + TCGA-18-5595-01 COSM725492 c.218C>A p.A73E Substitution - Missense 21:15766091-15766091 + TCGA-UB-A7MB-01 COSM4931038 c.1199A>G p.Y400C Substitution - Missense 21:15824157-15824157 + ESOSCC162T COSM1172745 c.2986G>C p.E996Q Substitution - Missense 21:15877982-15877982 + 447 COSM4435111 c.1859G>A p.W620* Substitution - Nonsense 21:15831495-15831495 + HCC168T COSM3707985 c.2421A>G p.V807V Substitution - coding silent 21:15864351-15864351 + 92 COSM5015684 c.1427C>A p.S476Y Substitution - Missense 21:15826326-15826326 + SNUH_G45_S1 COSM4001988 c.1467-7G>A p.? Unknown 21:15826970-15826970 + TCGA-B5-A11E-01 COSM1029499 c.1228G>A p.E410K Substitution - Missense 21:15824985-15824985 + BK0018 COSM4186106 c.1433C>A p.P478H Substitution - Missense 21:15826332-15826332 + TCGA-70-6722-01 COSM725487 c.1466G>T p.S489I Substitution - Missense 21:15826365-15826365 + 3N50-VS-3T50 COSM4983092 c.2917G>A p.E973K Substitution - Missense 21:15877913-15877913 + PD4100a COSM165433 c.556T>C p.S186P Substitution - Missense 21:15799757-15799757 + LUAD-CHTN-Z4716A COSM362151 c.857+1G>T p.? Unknown 21:15808886-15808886 + ESCC-128T COSM3939469 c.1349A>C p.D450A Substitution - Missense 21:15826248-15826248 + 587222 COSM1232009 c.632G>A p.R211Q Substitution - Missense 21:15799833-15799833 + TCGA-AN-A0AK-01 COSM3841643 c.1828G>A p.A610T Substitution - Missense 21:15831464-15831464 + JEKO-1 COSM1740698 c.1187C>G p.P396R Substitution - Missense 21:15824145-15824145 + TCGA-CU-A3KJ-01 COSM1307681 c.3141C>T p.L1047L Substitution - coding silent 21:15878448-15878448 + TCGA-AX-A0J0-01 COSM1029510 c.2321A>G p.E774G Substitution - Missense 21:15842524-15842524 + I2L-P16-Tumor-Biopsy COSM5366214 c.1453C>T p.Q485* Substitution - Nonsense 21:15826352-15826352 + HX5T COSM53508 c.1280C>T p.T427M Substitution - Missense 21:15825037-15825037 + TCGA-A7-A3RF-01 COSM3841645 c.2817C>A p.A939A Substitution - coding silent 21:15877813-15877813 + TCGA-FW-A3R5-06 COSM3911967 c.2687C>T p.S896F Substitution - Missense 21:15874414-15874414 + SNU-175 COSM2934937 c.407G>T p.S136I Substitution - Missense 21:15791516-15791516 + TCGA-18-3409-01 COSM725491 c.442C>T p.P148S Substitution - Missense 21:15791551-15791551 + TCGA-24-2293-01 COSM80728 c.2871C>T p.I957I Substitution - coding silent 21:15877867-15877867 + MO_1014 COSM5561204 c.2079C>G p.N693K Substitution - Missense 21:15833433-15833433 + 23_tFL COSM4171052 c.83C>T p.T28M Substitution - Missense 21:15762928-15762928 + TCGA-BR-6452-01 COSM4100862 c.1876A>T p.I626F Substitution - Missense 21:15831512-15831512 + SNUH_G26_S1 COSM4001988 c.1467-7G>A p.? Unknown 21:15826970-15826970 + TCGA-DI-A0WH-01 COSM1029514 c.2802A>G p.K934K Substitution - coding silent 21:15877798-15877798 + TCGA-AD-6889-01 COSM1413410 c.2083C>T p.R695* Substitution - Nonsense 21:15833437-15833437 + TCGA-BS-A0UF-01 COSM1029489 c.76G>T p.E26* Substitution - Nonsense 21:15762921-15762921 + CRC-03T COSM5451596 c.313G>A p.A105T Substitution - Missense 21:15777948-15777948 + TCGA-BS-A0UV-01 COSM1029507 c.1993G>T p.E665* Substitution - Nonsense 21:15831629-15831629 + TCGA-D1-A103-01 COSM1029506 c.1775G>A p.R592Q Substitution - Missense 21:15831411-15831411 + TCGA-FU-A3HZ-01 COSM4839622 c.2788G>T p.E930* Substitution - Nonsense 21:15874515-15874515 + HC9 COSM53508 c.1280C>T p.T427M Substitution - Missense 21:15825037-15825037 + TCGA-28-5204-01 COSM3405320 c.1576C>T p.R526W Substitution - Missense 21:15827086-15827086 + TCGA-18-3417-01 COSM725484 c.2614A>T p.R872W Substitution - Missense 21:15870086-15870086 + TCGA-E1-5307-01 COSM1029514 c.2802A>G p.K934K Substitution - coding silent 21:15877798-15877798 + YUHAMA COSM5392715 c.3003C>T p.L1001L Substitution - coding silent 21:15878310-15878310 + TCGA-D1-A16X-01 COSM1029495 c.1033G>T p.E345* Substitution - Nonsense 21:15818799-15818799 + TCGA-A2-A0T0-01 COSM444301 c.2039C>A p.T680K Substitution - Missense 21:15833393-15833393 + TCGA-B0-5095-01 COSM478445 c.1276C>G p.L426V Substitution - Missense 21:15825033-15825033 + TCGA-AA-A00N-01 COSM278035 c.2495G>A p.R832K Substitution - Missense 21:15864425-15864425 + TCGA-AX-A05Z-01 COSM1029494 c.876G>T p.K292N Substitution - Missense 21:15811155-15811155 + TCGA-AP-A0LM-01 COSM1029517 c.3112G>T p.E1038* Substitution - Nonsense 21:15878419-15878419 + sysucc-783T COSM5484401 c.3114G>A p.E1038E Substitution - coding silent 21:15878421-15878421 + TCGA-B5-A11E-01 COSM1029512 c.2454G>T p.K818N Substitution - Missense 21:15864384-15864384 + TCGA-D8-A1JM-01 COSM1483881 c.2616G>A p.R872R Substitution - coding silent 21:15870088-15870088 + HCC2998 COSM2934956 c.939A>C p.K313N Substitution - Missense 21:15818705-15818705 + TCGA-30-1862-01 COSM118107 c.1476A>G p.E492E Substitution - coding silent 21:15826986-15826986 + TCGA-F5-6814-01 COSM3423863 c.516G>T p.K172N Substitution - Missense 21:15791625-15791625 + tumor_4105746 COSM5946371 c.867G>A p.E289E Substitution - coding silent 21:15811146-15811146 + TCGA-BR-6452-01 COSM4100852 c.561A>T p.L187F Substitution - Missense 21:15799762-15799762 + Pat_24_A COSM5858437 c.922G>A p.V308I Substitution - Missense 21:15811201-15811201 + T3417 COSM4739732 c.2402A>G p.D801G Substitution - Missense 21:15864332-15864332 + TCGA-BC-A3KF-01 COSM1413404 c.408C>T p.S136S Substitution - coding silent 21:15791517-15791517 + TCGA-D3-A3C8-06 COSM3549860 c.2774C>T p.S925L Substitution - Missense 21:15874501-15874501 + TCGA-EE-A2M5-06 COSM3549862 c.3047C>T p.S1016F Substitution - Missense 21:15878354-15878354 + HC3-2 COSM307313 c.3151delC p.P1051fs*>5 Deletion - Frameshift 21:15878458-15878458 + TCGA-B5-A11U-01 COSM1029511 c.2408G>A p.R803H Substitution - Missense 21:15864338-15864338 + I2L-P10-Tumor-Organoid COSM3841647 c.2830G>A p.E944K Substitution - Missense 21:15877826-15877826 + PR-09-5700 COSM248239 c.1585C>G p.P529A Substitution - Missense 21:15827095-15827095 + TCGA-AA-A010-01 COSM286388 c.57G>A p.T19T Substitution - coding silent 21:15762902-15762902 + 8035633 COSM725488 c.1281G>A p.T427T Substitution - coding silent 21:15825038-15825038 + TCGA-D5-6540-01 COSM1413405 c.622G>T p.D208Y Substitution - Missense 21:15799823-15799823 + pfg127T COSM4746733 c.1920_1921delTT p.F641fs*4 Deletion - Frameshift 21:15831556-15831557 + PT47 COSM5930377 c.46-7C>T p.? Unknown 21:15762884-15762884 + Pat_14_A COSM5858441 c.2360G>A p.R787K Substitution - Missense 21:15864290-15864290 + 61 COSM5741961 c.1606G>A p.A536T Substitution - Missense 21:15827116-15827116 + TCGA-FW-A3R5-06 COSM3911963 c.193G>A p.E65K Substitution - Missense 21:15766066-15766066 + CHC892T COSM4960217 c.919G>A p.G307R Substitution - Missense 21:15811198-15811198 + SA080 COSM213440 c.2773T>C p.S925P Substitution - Missense 21:15874500-15874500 + ESCC_72 COSM5634356 c.1324G>A p.G442S Substitution - Missense 21:15826223-15826223 + TCGA-AA-3715-01 COSM270526 c.1437T>C p.S479S Substitution - coding silent 21:15826336-15826336 + TCGA-B5-A0JY-01 COSM1029491 c.487A>C p.R163R Substitution - coding silent 21:15791596-15791596 + S02291 COSM5687037 c.735A>G p.A245A Substitution - coding silent 21:15805213-15805213 + HCC074T COSM5810327 c.2676-3A>T p.? Unknown 21:15874400-15874400 + PS-352-5D COSM4424081 c.2635A>G p.M879V Substitution - Missense 21:15870107-15870107 + TCGA-EB-A551-01 COSM176209 c.3078G>A p.P1026P Substitution - coding silent 21:15878385-15878385 + TCGA-HU-A4H3-01 COSM4100864 c.2136G>A p.L712L Substitution - coding silent 21:15833490-15833490 + CH-103-T2 COSM5650512 c.1510A>G p.T504A Substitution - Missense 21:15827020-15827020 + TCGA-AX-A0J0-01 COSM172606 c.467G>A p.R156Q Substitution - Missense 21:15791576-15791576 + S02376 COSM5701497 c.1804_1805insGAA p.Q602>RK Complex - insertion inframe 21:15831440-15831441 + ccRCC-2 COSM1664910 c.2378A>C p.Q793P Substitution - Missense 21:15864308-15864308 + TCGA-D1-A174-01 COSM1029498 c.1198T>C p.Y400H Substitution - Missense 21:15824156-15824156 + CHC1545T COSM169150 c.2278A>G p.I760V Substitution - Missense 21:15842481-15842481 + 1960590 COSM53508 c.1280C>T p.T427M Substitution - Missense 21:15825037-15825037 + 2521259 COSM228232 c.1070C>T p.S357L Substitution - Missense 21:15818836-15818836 + TCGA-EE-A3JI-06 COSM3549850 c.1054G>A p.E352K Substitution - Missense 21:15818820-15818820 + TCGA-EI-6917-01 COSM3423859 c.292G>T p.D98Y Substitution - Missense 21:15777927-15777927 + T3724 COSM4739734 c.2568T>C p.P856P Substitution - coding silent 21:15866317-15866317 + SF295 COSM1681884 c.891G>C p.E297D Substitution - Missense 21:15811170-15811170 + TCGA-BS-A0UV-01 COSM1029513 c.2764G>A p.E922K Substitution - Missense 21:15874491-15874491 + CHEWS027 COSM2840882 c.2318C>T p.P773L Substitution - Missense 21:15842521-15842521 + TCGA-G3-A25S-01 COSM4926917 c.1289A>G p.Q430R Substitution - Missense 21:15825046-15825046 + PD4093a COSM165432 c.2426T>C p.V809A Substitution - Missense 21:15864356-15864356 + TCGA-AD-6889-01 COSM1413409 c.1842T>C p.D614D Substitution - coding silent 21:15831478-15831478 + 034T COSM1728567 c.3098C>T p.T1033M Substitution - Missense 21:15878405-15878405 + TCGA-13-0885-01 COSM81893 c.2643C>G p.L881L Substitution - coding silent 21:15870115-15870115 + TCGA-F5-6814-01 COSM3423865 c.2764G>T p.E922* Substitution - Nonsense 21:15874491-15874491 + TCGA-AP-A0LJ-01 COSM1029504 c.1701G>A p.Q567Q Substitution - coding silent 21:15830538-15830538 + TCGA-BR-4201-01 COSM1728567 c.3098C>T p.T1033M Substitution - Missense 21:15878405-15878405 + TCGA-D1-A17Q-01 COSM1029497 c.1127G>A p.R376K Substitution - Missense 21:15824085-15824085 + PT48 COSM5934103 c.1765-7C>T p.? Unknown 21:15831394-15831394 + TCGA-60-2713-01 COSM725485 c.2320G>T p.E774* Substitution - Nonsense 21:15842523-15842523 + sysucc-1370T COSM5471270 c.2400C>T p.T800T Substitution - coding silent 21:15864330-15864330 + TCGA-D1-A16X-01 COSM1029509 c.2226G>A p.E742E Substitution - coding silent 21:15842429-15842429 + T27 COSM5343691 c.857+5G>A p.? Unknown 21:15808890-15808890 + PDA_022 COSM2840874 c.2153C>T p.A718V Substitution - Missense 21:15833507-15833507 + TCGA-A8-A09Z-01 COSM3841637 c.381A>T p.Q127H Substitution - Missense 21:15778016-15778016 + I2L-P10-Tumor-Organoid COSM5366186 c.1542G>A p.S514S Substitution - coding silent 21:15827052-15827052 + LC_S15 COSM1190950 c.631delC p.R211fs*15 Deletion - Frameshift 21:15799832-15799832 + TCGA-G7-6793-01 COSM3991886 c.240C>G p.Y80* Substitution - Nonsense 21:15766113-15766113 + PCSI_0015_Pa_P_526 COSM4963261 c.540T>G p.F180L Substitution - Missense 21:15791649-15791649 + TCGA-B5-A11G-01 COSM1029503 c.1696T>C p.L566L Substitution - coding silent 21:15830533-15830533 + PT15_1 COSM3549854 c.1186C>T p.P396S Substitution - Missense 21:15824144-15824144 + SJRHB059R COSM3737644 c.82A>G p.T28A Substitution - Missense 21:15762927-15762927 + TCGA-AP-A059-01 COSM1029511 c.2408G>A p.R803H Substitution - Missense 21:15864338-15864338 + TCGA-AN-A046-01 COSM3841647 c.2830G>A p.E944K Substitution - Missense 21:15877826-15877826 + CSCC-27-T COSM4469547 c.1603C>T p.P535S Substitution - Missense 21:15827113-15827113 + HCC074T COSM5810325 c.2337+3A>T p.? Unknown 21:15842543-15842543 + TCGA-AP-A0LM-01 COSM1029492 c.648T>A p.H216Q Substitution - Missense 21:15805126-15805126 + BL42 COSM3728380 c.1626G>C p.E542D Substitution - Missense 21:15827136-15827136 + RKO COSM2840909 c.2934T>C p.D978D Substitution - coding silent 21:15877930-15877930 + HX5T COSM53509 c.1800A>C p.E600D Substitution - Missense 21:15831436-15831436 + TCGA-EI-6917-01 COSM1232009 c.632G>A p.R211Q Substitution - Missense 21:15799833-15799833 + TCGA-FW-A3R5-06 COSM3911965 c.1304G>A p.R435K Substitution - Missense 21:15825061-15825061 + T3658 COSM2840907 c.2776C>T p.H926Y Substitution - Missense 21:15874503-15874503 + TCGA-33-4566-01 COSM725489 c.1046T>C p.L349S Substitution - Missense 21:15818812-15818812 + RK257_C01 COSM4779256 c.1992A>C p.Q664H Substitution - Missense 21:15831628-15831628 + TCGA-AP-A056-01 COSM1029508 c.1993+2T>C p.? Unknown 21:15831631-15831631 + PCSI_0090_Pa_P COSM3379149 c.2256C>T p.H752H Substitution - coding silent 21:15842459-15842459 + 85 COSM5013632 c.1052C>A p.S351* Substitution - Nonsense 21:15818818-15818818 + BD242T COSM5495985 c.268+10C>G p.? Unknown 21:15766151-15766151 + TCGA-B5-A11N-01 COSM1029496 c.1056G>T p.E352D Substitution - Missense 21:15818822-15818822 + TCGA-CZ-4865-01 COSM3363400 c.2697C>T p.F899F Substitution - coding silent 21:15874424-15874424 + 1960590 COSM53509 c.1800A>C p.E600D Substitution - Missense 21:15831436-15831436 + TCGA-HU-A4H5-01 COSM4100854 c.580A>G p.R194G Substitution - Missense 21:15799781-15799781 + TCGA-CU-A0YN-01 COSM419283 c.1785C>T p.A595A Substitution - coding silent 21:15831421-15831421 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.473370 21q11.2 604736

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.P738P c.2214A>C 21 17214736 LUSC A G Missense p.N293S c.878A>G 21 17183476 CM A G Missense p.N860S c.2579A>G 21 17238647 LGG A G Synonymous p.E492E c.1476A>G 21 17199305 OV A G Synonymous p.K934K c.2802A>G 21 17250117 LGG A T Missense p.R872W c.2614A>T 21 17242405 LUSC C A Missense p.A73E c.218C>A 21 17138410 LUSC C A Missense p.T680K c.2039C>A 21 17205712 BRCA C - Frameshift p.P1051Lfs*16 c.3150delT 21 17250776 HC C G Missense p.I812M c.2436C>G 21 17236685 BLCA C G Missense p.L228V c.682C>G 21 17177479 BRCA C G Missense p.L426V c.1276C>G 21 17197352 RCCC C G Nonsense p.S765* c.2294C>G 21 17214816 LUAD C G Synonymous p.L881L c.2643C>G 21 17242434 OV C T Missense p.A230V c.689C>T 21 17177486 UCEC C T Missense p.P168L c.503C>T 21 17163931 CM C T Missense p.P396S c.1186C>T 21 17196463 CM C T Missense p.P528L c.1583C>T 21 17199412 LUAD C T Missense p.R526W c.1576C>T 21 17199405 GBM C T Missense p.S1016F c.3047C>T 21 17250673 CM C T Missense p.S357L c.1070C>T 21 17191155 CM C T Missense p.S476F c.1427C>T 21 17198645 COREAD C T Missense p.S925L c.2774C>T 21 17246820 CM C T Missense p.T1033M c.3098C>T 21 17250724 STAD C T Nonsense p.Q359* c.1075C>T 21 17191160 CM C T Synonymous p.A595A c.1785C>T 21 17203740 BLCA C T Synonymous p.F899F c.2697C>T 21 17246743 RCCC C T Synonymous p.I957I c.2871C>T 21 17250186 OV C T Synonymous p.L1047L c.3141C>T 21 17250767 BLCA C T Synonymous p.L497L c.1489C>T 21 17199318 CM C T Synonymous p.S569S c.1707C>T 21 17202863 STAD G A Missense p.E352K c.1054G>A 21 17191139 CM G A Missense p.R1049Q c.3146G>A 21 17250772 UCEC G A Missense p.R413K c.1238G>A 21 17197314 LUAD G A Missense p.R695Q c.2084G>A 21 17205757 RCCC G A Missense p.R803H c.2408G>A 21 17236657 UCEC G A SpliceDonorSNV . c.1764+1G>A 21 17202921 LUAD G A Synonymous p.Q567Q c.1701G>A 21 17202857 UCEC G A Synonymous p.R872R c.2616G>A 21 17242407 BRCA G A Synonymous p.T427T c.1281G>A 21 17197357 LUSC G C Missense p.E701Q c.2101G>C 21 17205774 LUAD G C Missense p.G946R c.2836G>C 21 17250151 OV G C Missense p.Q709H c.2127G>C 21 17205800 BRCA G - Frameshift p.L1009Ffs*58 c.3027delG 21 17250653 BLCA G T IntronicSNV . c.2338-6707G>T 21 17229880 CLL G T Missense p.S43I c.128G>T 21 17138320 COREAD G T Missense p.S489I c.1466G>T 21 17198684 LUSC G T Nonsense p.E774* c.2320G>T 21 17214842 LUSC TAA - IntronicDeletion . c.2338-7631_2338-7629delAAT 21 17228955 CLL T C Missense p.S186P c.556T>C 21 17172076 BRCA T C Missense p.S925P c.2773T>C 21 17246819 BRCA T C Missense p.S925P c.2773T>C 21 17246819 LGG T C Missense p.V809A c.2426T>C 21 17236675 BRCA T C Synonymous p.C178C c.534T>C 21 17163962 MM T C Synonymous p.L566L c.1696T>C 21 17202852 UCEC T G IntronicSNV . c.2800-329T>G 21 17249786 MB T G Missense p.V982G c.2945T>G 21 17250260 ESCA T - IntronicDeletion . c.1466+219delT 21 17198896 ESCA T - IntronicDeletion . c.2517-4delT 21 17238573 STAD