Hugo_Symbol Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele2 Genome_Change cDNA_Change Protein_Change Tumor_Sample_Barcode A1CF 10 52601740 52601740 + Missense_Mutation SNP A G g.chr10:52601740A>G c.247T>C p.Y83H TCGA-3X-AAVB-01A-31D-A417-09 A2BP1 16 7629838 7629838 + Silent SNP G T g.chr16:7629838G>T c.330G>T p.T110T TCGA-W5-AA2W-01A-11D-A417-09 A2M 12 9264989 9264989 + Nonsense_Mutation SNP G T g.chr12:9264989G>T c.414C>A p.Y138* TCGA-W5-AA39-01A-11D-A417-09 AADAC 3 151545576 151545576 + Silent SNP G T g.chr3:151545576G>T c.816G>T p.V272V TCGA-W5-AA2X-01A-11D-A417-09 AADAC 3 151545859 151545859 + Missense_Mutation SNP C A g.chr3:151545859C>A c.1099C>A p.H367N TCGA-ZH-A8Y6-01A-11D-A417-09 AAK1 2 69741753 69741753 + Silent SNP C T g.chr2:69741753C>T c.1626G>A p.Q542Q TCGA-3X-AAV9-01A-72D-A417-09 AAK1 2 69741780 69741780 + Missense_Mutation SNP C G g.chr2:69741780C>G c.1599G>C p.Q533H TCGA-3X-AAVE-01A-11D-A417-09 AAK1 2 69741780 69741780 + Missense_Mutation SNP C G g.chr2:69741780C>G c.1599G>C p.Q533H TCGA-W5-AA2O-01A-11D-A417-09 AASS 7 121716630 121716630 + Silent SNP G T g.chr7:121716630G>T c.2694C>A p.P898P TCGA-W5-AA2I-01A-32D-A417-09 AASS 7 121755176 121755176 + Missense_Mutation SNP C T g.chr7:121755176C>T c.995G>A p.G332D TCGA-W5-AA2Z-01A-11D-A417-09 ABCA10 17 67212428 67212428 + Nonsense_Mutation SNP G T g.chr17:67212428G>T c.602C>A p.S201* TCGA-ZH-A8Y6-01A-11D-A417-09 ABCA12 2 215851337 215851337 + Silent SNP G T g.chr2:215851337G>T c.4092C>A p.L1364L TCGA-3X-AAV9-01A-72D-A417-09 ABCA12 2 215865498 215865498 + Missense_Mutation SNP G T g.chr2:215865498G>T c.3110C>A p.T1037N TCGA-ZD-A8I3-01A-11D-A417-09 ABCA13 7 48284188 48284188 + Missense_Mutation SNP G T g.chr7:48284188G>T c.1278G>T p.W426C TCGA-3X-AAVC-01A-21D-A417-09 ABCA13 7 48318055 48318055 + Nonsense_Mutation SNP G T g.chr7:48318055G>T c.7264G>T p.E2422* TCGA-W5-AA2X-01A-11D-A417-09 ABCA13 7 48314511 48314511 + Missense_Mutation SNP C T g.chr7:48314511C>T c.5248C>T p.L1750F TCGA-W5-AA31-01A-11D-A417-09 ABCA13 7 48315409 48315409 + Missense_Mutation SNP G T g.chr7:48315409G>T c.6146G>T p.S2049I TCGA-W5-AA39-01A-11D-A417-09 ABCA13 7 48443439 48443439 + Silent SNP G A g.chr7:48443439G>A c.12033G>A p.R4011R TCGA-W5-AA39-01A-11D-A417-09 ABCA13 7 48327660 48327660 + Silent SNP G A g.chr7:48327660G>A c.8940G>A p.A2980A TCGA-ZD-A8I3-01A-11D-A417-09 ABCA13 7 48318114 48318114 + Missense_Mutation SNP G T g.chr7:48318114G>T c.7323G>T p.L2441F TCGA-ZH-A8Y5-01A-11D-A417-09 ABCA3 16 2347794 2347794 + Silent SNP G A g.chr16:2347794G>A c.2025C>T p.I675I TCGA-W5-AA2H-01A-31D-A417-09 ABCA4 1 94486813 94486813 + Silent SNP C T g.chr1:94486813C>T c.5001G>A p.Q1667Q TCGA-3X-AAVC-01A-21D-A417-09 ABCA6 17 67080420 67080420 + Missense_Mutation SNP G A g.chr17:67080420G>A c.4337C>T p.T1446I TCGA-W5-AA33-01A-11D-A417-09 ABCA7 19 1052100 1052100 + Missense_Mutation SNP G T g.chr19:1052100G>T c.3122G>T p.R1041L TCGA-4G-AAZO-01A-12D-A417-09 ABCA7 19 1052002 1052002 + Silent SNP G A g.chr19:1052002G>A c.3024G>A p.V1008V TCGA-ZH-A8Y4-01A-11D-A417-09 ABCA7 19 1065137 1065137 + Silent SNP G A g.chr19:1065137G>A c.6252G>A p.E2084E TCGA-ZU-A8S4-01A-11D-A417-09 ABCA8 17 66877304 66877304 + Missense_Mutation SNP G T g.chr17:66877304G>T c.3875C>A p.S1292Y TCGA-W5-AA2Q-01A-11D-A417-09 ABCA8 17 66878815 66878815 + Silent SNP T G g.chr17:66878815T>G c.3633A>C p.P1211P TCGA-W5-AA2U-01A-11D-A417-09 ABCA9 17 67014691 67014706 + Frame_Shift_Del DEL GGGATAAAGCTAATAC - g.chr17:67014691_67014706delGGGATAAAGCTAATAC c.2615_2630delGTATTAGCTTTATCCC p.GISFIP872fs TCGA-W5-AA39-01A-11D-A417-09 ABCB1 7 87229482 87229482 + Missense_Mutation SNP G T g.chr7:87229482G>T c.19C>A p.R7S TCGA-4G-AAZT-01A-11D-A417-09 ABCB11 2 169820752 169820752 + Silent SNP A C g.chr2:169820752A>C c.2142T>G p.V714V TCGA-W5-AA39-01A-11D-A417-09 ABCB11 2 169792945 169792945 + Splice_Site SNP T C g.chr2:169792945T>C TCGA-ZH-A8Y6-01A-11D-A417-09 ABCB4 7 87053267 87053267 + Silent SNP C T g.chr7:87053267C>T c.2166G>A p.G722G TCGA-ZH-A8Y8-01A-51D-A417-09 ABCB5 7 20778674 20778674 + Missense_Mutation SNP C A g.chr7:20778674C>A c.2936C>A p.S979Y TCGA-3X-AAVB-01A-31D-A417-09 ABCB5 7 20766683 20766683 + Missense_Mutation SNP G T g.chr7:20766683G>T c.2646G>T p.E882D TCGA-4G-AAZO-01A-12D-A417-09 ABCB7 23 74375943 74375943 + Nonsense_Mutation SNP G T g.chrX:74375943G>T c.165C>A p.Y55* TCGA-W5-AA2H-01A-31D-A417-09 ABCB8 7 150733641 150733641 + Missense_Mutation SNP G T g.chr7:150733641G>T c.1173G>T p.L391F TCGA-W5-AA2I-01A-32D-A417-09 ABCC1 16 16180684 16180684 + Missense_Mutation SNP G A g.chr16:16180684G>A c.2296G>A p.V766M TCGA-ZD-A8I3-01A-11D-A417-09 ABCC11 16 48249190 48249190 + Silent SNP G T g.chr16:48249190G>T c.1017C>A p.I339I TCGA-W5-AA30-01A-31D-A417-09 ABCC12 16 48138174 48138174 + Missense_Mutation SNP C T g.chr16:48138174C>T c.2779G>A p.A927T TCGA-ZH-A8Y4-01A-11D-A417-09 ABCC2 10 101567200 101567200 + Missense_Mutation SNP G T g.chr10:101567200G>T c.1590G>T p.K530N TCGA-W5-AA34-01A-11D-A417-09 ABCC2 10 101544402 101544402 + Missense_Mutation SNP C A g.chr10:101544402C>A c.71C>A p.P24Q TCGA-W5-AA39-01A-11D-A417-09 ABCC3 17 48745811 48745811 + Silent SNP G C g.chr17:48745811G>C c.1803G>C p.R601R TCGA-W5-AA39-01A-11D-A417-09 ABCC3 17 48753044 48753044 + Silent SNP C A g.chr17:48753044C>A c.2767C>A p.R923R TCGA-W5-AA39-01A-11D-A417-09 ABCC4 13 95816668 95816668 + Silent SNP G T g.chr13:95816668G>T c.2139C>A p.V713V TCGA-ZH-A8Y4-01A-11D-A417-09 ABCC6 16 16315466 16315466 + Intron SNP G T g.chr16:16315466G>T TCGA-W5-AA2G-01A-11D-A417-09 ABCC9 12 22089573 22089573 + Silent SNP T C g.chr12:22089573T>C c.36A>G p.S12S TCGA-3X-AAV9-01A-72D-A417-09 ABCD1 23 153006141 153006141 + Missense_Mutation SNP T A g.chrX:153006141T>A c.1748T>A p.V583E TCGA-YR-A95A-01A-12D-A417-09 ABCG2 4 89018752 89018752 + Missense_Mutation SNP C A g.chr4:89018752C>A c.1500G>T p.K500N TCGA-3X-AAVA-01A-11D-A417-09 ABCG2 4 89060947 89060947 + Silent SNP G T g.chr4:89060947G>T c.201C>A p.I67I TCGA-ZU-A8S4-01A-11D-A417-09 ABHD1 2 27353427 27353427 + Missense_Mutation SNP T C g.chr2:27353427T>C c.1033T>C p.S345P TCGA-W5-AA2R-01A-11D-A417-09 ABHD12B 14 51370833 51370833 + Missense_Mutation SNP G T g.chr14:51370833G>T c.984G>T p.R328S TCGA-W5-AA2Q-01A-11D-A417-09 ABI3 17 47299965 47299965 + Missense_Mutation SNP C A g.chr17:47299965C>A c.989C>A p.S330Y TCGA-4G-AAZO-01A-12D-A417-09 ABI3 17 47299925 47299925 + Missense_Mutation SNP T C g.chr17:47299925T>C c.949T>C p.Y317H TCGA-W5-AA39-01A-11D-A417-09 ABL2 1 179077425 179077425 + Silent SNP G A g.chr1:179077425G>A c.2977C>T p.L993L TCGA-W5-AA33-01A-11D-A417-09 ABTB2 11 34194737 34194737 + Silent SNP C T g.chr11:34194737C>T c.1362G>A p.L454L TCGA-ZH-A8Y6-01A-11D-A417-09 ACACB 12 109644547 109644547 + Missense_Mutation SNP G T g.chr12:109644547G>T c.2946G>T p.Q982H TCGA-3X-AAV9-01A-72D-A417-09 ACAD8 11 134128487 134128487 + Missense_Mutation SNP G T g.chr11:134128487G>T c.459G>T p.E153D TCGA-ZH-A8Y4-01A-11D-A417-09 ACADVL 17 7124970 7124983 + Frame_Shift_Del DEL GAAAGAAAAATACC - g.chr17:7124970_7124983delGAAAGAAAAATACC c.591_604delGAAAGAAAAATACC p.QKEKYL197fs TCGA-W5-AA39-01A-11D-A417-09 ACAN 15 89400503 89400503 + Missense_Mutation SNP G T g.chr15:89400503G>T c.4687G>T p.G1563W TCGA-ZD-A8I3-01A-11D-A417-09 ACAP3 1 1237394 1237394 + Silent SNP C T g.chr1:1237394C>T c.312G>A p.R104R TCGA-W6-AA0S-01A-11D-A417-09 ACBD3 1 226349273 226349296 + In_Frame_Del DEL CCTTTCCTCTTCCTCCCGTCGAAG - g.chr1:226349273_226349296delCCTTTCCTCTTCCTCCCGTCGAAG c.664_687delCTTCGACGGGAGGAAGAGGAAAGG p.LRREEEER222del TCGA-W5-AA30-01A-31D-A417-09 ACCN4 2 220397179 220397179 + Missense_Mutation SNP G A g.chr2:220397179G>A c.1379G>A p.C460Y TCGA-W5-AA2W-01A-11D-A417-09 ACCN4 2 220397059 220397059 + Missense_Mutation SNP G T g.chr2:220397059G>T c.1259G>T p.W420L TCGA-W5-AA39-01A-11D-A417-09 ACHE 7 100490325 100490325 + Missense_Mutation SNP G A g.chr7:100490325G>A c.1183C>T p.R395W TCGA-3X-AAVB-01A-31D-A417-09 ACIN1 14 23540342 23540342 + Intron SNP G T g.chr14:23540342G>T TCGA-W5-AA2I-01A-32D-A417-09 ACIN1 14 23549704 23549704 + Silent SNP C A g.chr14:23549704C>A c.1014G>T p.G338G TCGA-ZH-A8Y8-01A-51D-A417-09 ACLY 17 40049390 40049390 + Silent SNP G A g.chr17:40049390G>A c.1497C>T p.A499A TCGA-W5-AA39-01A-11D-A417-09 ACO1 9 32429463 32429463 + Missense_Mutation SNP G T g.chr9:32429463G>T c.1531G>T p.G511W TCGA-W5-AA39-01A-11D-A417-09 ACO2 22 41911822 41911822 + Missense_Mutation SNP G A g.chr22:41911822G>A c.736G>A p.D246N TCGA-W5-AA2O-01A-11D-A417-09 ACOX1 17 73944443 73944443 + Missense_Mutation SNP A T g.chr17:73944443A>T c.1824T>A p.D608E TCGA-W5-AA2O-01A-11D-A417-09 ACP2 11 47264423 47264423 + Missense_Mutation SNP C A g.chr11:47264423C>A c.989G>T p.R330L TCGA-W5-AA2Z-01A-11D-A417-09 ACSBG2 19 6187825 6187825 + Missense_Mutation SNP G T g.chr19:6187825G>T c.1896G>T p.E632D TCGA-W5-AA2U-01A-11D-A417-09 ACSL3 2 223793606 223793606 + Missense_Mutation SNP G A g.chr2:223793606G>A c.1492G>A p.G498R TCGA-W5-AA2Q-01A-11D-A417-09 ACSL5 10 114168254 114168254 + Missense_Mutation SNP A C g.chr10:114168254A>C c.507A>C p.E169D TCGA-W5-AA39-01A-11D-A417-09 ACSL6 5 131329781 131329781 + Missense_Mutation SNP G T g.chr5:131329781G>T c.138C>A p.H46Q TCGA-W5-AA2W-01A-11D-A417-09 ACSM2B 16 20554487 20554487 + Missense_Mutation SNP C T g.chr16:20554487C>T c.1379G>A p.G460E TCGA-W5-AA39-01A-11D-A417-09 ACSM5 16 20442583 20442583 + Missense_Mutation SNP G C g.chr16:20442583G>C c.1248G>C p.E416D TCGA-3X-AAVA-01A-11D-A417-09 ACSM5 16 20448431 20448431 + Silent SNP C A g.chr16:20448431C>A c.1366C>A p.R456R TCGA-4G-AAZO-01A-12D-A417-09 ACSM5 16 20451133 20451133 + Silent SNP A C g.chr16:20451133A>C c.1548A>C p.A516A TCGA-W5-AA39-01A-11D-A417-09 ACSS2 20 33470783 33470783 + Missense_Mutation SNP C A g.chr20:33470783C>A c.365C>A p.A122D TCGA-4G-AAZO-01A-12D-A417-09 ACSS3 12 81536974 81536974 + Nonsense_Mutation SNP C A g.chr12:81536974C>A c.869C>A p.S290* TCGA-4G-AAZO-01A-12D-A417-09 ACTB 7 5567663 5567663 + Missense_Mutation SNP G A g.chr7:5567663G>A c.956C>T p.A319V TCGA-4G-AAZT-01A-11D-A417-09 ACTC1 15 35082738 35082738 + Missense_Mutation SNP G A g.chr15:35082738G>A c.1009C>T p.R337C TCGA-W5-AA2I-01A-32D-A417-09 ACTC1 15 35084309 35084309 + Missense_Mutation SNP A G g.chr15:35084309A>G c.790T>C p.F264L TCGA-W5-AA30-01A-31D-A417-09 ACTG1 17 79478576 79478576 + Missense_Mutation SNP C T g.chr17:79478576C>T c.440G>A p.R147H TCGA-W5-AA2Z-01A-11D-A417-09 ACTL7A 9 111625685 111625685 + Silent SNP C T g.chr9:111625685C>T c.1083C>T p.C361C TCGA-W6-AA0S-01A-11D-A417-09 ACTN2 1 236912525 236912525 + Silent SNP G A g.chr1:236912525G>A c.1617G>A p.L539L TCGA-YR-A95A-01A-12D-A417-09 ACTN2 1 236882229 236882229 + Missense_Mutation SNP C T g.chr1:236882229C>T c.277C>T p.R93W TCGA-ZH-A8Y5-01A-11D-A417-09 ACTR3B 7 152497656 152497656 + Silent SNP T C g.chr7:152497656T>C c.141T>C p.A47A TCGA-W5-AA30-01A-31D-A417-09 ACTR3C 7 149981851 149981851 + Silent SNP C T g.chr7:149981851C>T c.555G>A p.P185P TCGA-W5-AA2R-01A-11D-A417-09 ACVR1B 12 52377793 52377793 + Silent SNP C A g.chr12:52377793C>A c.822C>A p.T274T TCGA-W5-AA39-01A-11D-A417-09 ACVR1C 2 158443750 158443750 + Missense_Mutation SNP C T g.chr2:158443750C>T c.253G>A p.E85K TCGA-W5-AA34-01A-11D-A417-09 ACVR2A 2 148676088 148676088 + Missense_Mutation SNP G A g.chr2:148676088G>A c.889G>A p.A297T TCGA-W5-AA39-01A-11D-A417-09 ADAM12 10 127806650 127806650 + Missense_Mutation SNP G T g.chr10:127806650G>T c.569C>A p.A190E TCGA-ZH-A8Y2-01A-11D-A417-09 ADAM17 2 9661362 9661362 + Missense_Mutation SNP C A g.chr2:9661362C>A c.927G>T p.K309N TCGA-4G-AAZO-01A-12D-A417-09 ADAM20 14 70990328 70990328 + Missense_Mutation SNP G T g.chr14:70990328G>T c.1297C>A p.Q433K TCGA-W5-AA2U-01A-11D-A417-09 ADAM21 14 70924269 70924269 + Missense_Mutation SNP G T g.chr14:70924269G>T c.53G>T p.W18L TCGA-W5-AA39-01A-11D-A417-09 ADAM21 14 70924559 70924559 + Missense_Mutation SNP G A g.chr14:70924559G>A c.343G>A p.V115M TCGA-ZU-A8S4-01A-11D-A417-09 ADAM28 8 24199122 24199122 + Missense_Mutation SNP G T g.chr8:24199122G>T c.1682G>T p.C561F TCGA-W5-AA2G-01A-11D-A417-09 ADAM29 4 175898005 175898005 + Silent SNP C T g.chr4:175898005C>T c.1329C>T p.C443C TCGA-3X-AAV9-01A-72D-A417-09 ADAM30 1 120438659 120438659 + Missense_Mutation SNP C T g.chr1:120438659C>T c.301G>A p.E101K TCGA-W5-AA31-01A-11D-A417-09 ADAM30 1 120438863 120438863 + Missense_Mutation SNP G T g.chr1:120438863G>T c.97C>A p.H33N TCGA-W5-AA38-01A-11D-A417-09 ADAM30 1 120436670 120436670 + Missense_Mutation SNP C A g.chr1:120436670C>A c.2290G>T p.A764S TCGA-W5-AA39-01A-11D-A417-09 ADAM32 8 39114753 39114753 + Missense_Mutation SNP C A g.chr8:39114753C>A c.2053C>A p.L685I TCGA-4G-AAZT-01A-11D-A417-09 ADAM33 20 3654549 3654549 + Missense_Mutation SNP T C g.chr20:3654549T>C c.748A>G p.T250A TCGA-W5-AA39-01A-11D-A417-09 ADAM7 8 24300078 24300078 + Missense_Mutation SNP G T g.chr8:24300078G>T c.145G>T p.D49Y TCGA-YR-A95A-01A-12D-A417-09 ADAM9 8 38854669 38854669 + Silent SNP G T g.chr8:38854669G>T c.87G>T p.A29A TCGA-YR-A95A-01A-12D-A417-09 ADAMTS10 19 8651483 8651483 + Missense_Mutation SNP G T g.chr19:8651483G>T c.2362C>A p.L788I TCGA-3X-AAV9-01A-72D-A417-09 ADAMTS13 9 136305517 136305517 + Silent SNP T G g.chr9:136305517T>G c.1839T>G p.P613P TCGA-W5-AA2X-01A-11D-A417-09 ADAMTS16 5 5318295 5318295 + Silent SNP C T g.chr5:5318295C>T c.3460C>T p.L1154L TCGA-4G-AAZO-01A-12D-A417-09 ADAMTS16 5 5239928 5239928 + Missense_Mutation SNP T A g.chr5:5239928T>A c.2413T>A p.W805R TCGA-W5-AA2X-01A-11D-A417-09 ADAMTS16 5 5209265 5209265 + Missense_Mutation SNP C T g.chr5:5209265C>T c.1511C>T p.P504L TCGA-YR-A95A-01A-12D-A417-09 ADAMTS17 15 100802574 100802574 + Missense_Mutation SNP G T g.chr15:100802574G>T c.856C>A p.L286M TCGA-3X-AAV9-01A-72D-A417-09 ADAMTS18 16 77353780 77353780 + Missense_Mutation SNP G A g.chr16:77353780G>A c.2498C>T p.A833V TCGA-3X-AAV9-01A-72D-A417-09 ADAMTS20 12 43770341 43770341 + Missense_Mutation SNP C T g.chr12:43770341C>T c.5111G>A p.C1704Y TCGA-W5-AA2O-01A-11D-A417-09 ADAMTS20 12 43925997 43925997 + Splice_Site SNP G T g.chr12:43925997G>T c.455C>A p.T152K TCGA-W6-AA0S-01A-11D-A417-09 ADAMTS5 21 28296852 28296852 + Missense_Mutation SNP G T g.chr21:28296852G>T c.2313C>A p.F771L TCGA-W5-AA39-01A-11D-A417-09 ADAMTS7 15 79090371 79090371 + Missense_Mutation SNP G T g.chr15:79090371G>T c.541C>A p.H181N TCGA-W5-AA2Z-01A-11D-A417-09 ADAMTSL2 9 136404934 136404934 + Silent SNP C T g.chr9:136404934C>T c.351C>T p.C117C TCGA-W5-AA2H-01A-31D-A417-09 ADAMTSL2 9 136405777 136405777 + Missense_Mutation SNP G A g.chr9:136405777G>A c.470G>A p.G157D TCGA-W5-AA2W-01A-11D-A417-09 ADAMTSL3 15 84700090 84700090 + Missense_Mutation SNP C A g.chr15:84700090C>A c.4660C>A p.P1554T TCGA-3X-AAVC-01A-21D-A417-09 ADC 1 33583665 33583665 + Missense_Mutation SNP T C g.chr1:33583665T>C c.1192T>C p.F398L TCGA-3X-AAV9-01A-72D-A417-09 ADCK2 7 140373610 140373610 + Silent SNP G A g.chr7:140373610G>A c.480G>A p.S160S TCGA-W5-AA39-01A-11D-A417-09 ADCK4 19 41197996 41197996 + Missense_Mutation SNP C T g.chr19:41197996C>T c.1579G>A p.A527T TCGA-W5-AA2T-01A-12D-A417-09 ADCY10 1 167780114 167780114 + Missense_Mutation SNP G T g.chr1:167780114G>T c.4519C>A p.P1507T TCGA-W5-AA2I-01A-32D-A417-09 ADCY10 1 167873153 167873153 + Silent SNP G T g.chr1:167873153G>T c.225C>A p.L75L TCGA-W5-AA30-01A-31D-A417-09 ADCY10 1 167779005 167779005 + Missense_Mutation SNP C A g.chr1:167779005C>A c.4743G>T p.W1581C TCGA-ZH-A8Y8-01A-51D-A417-09 ADCY3 2 25043665 25043665 + Silent SNP G A g.chr2:25043665G>A c.3180C>T p.H1060H TCGA-W5-AA39-01A-11D-A417-09 ADCY4 14 24787682 24787682 + Silent SNP G A g.chr14:24787682G>A c.3174C>T p.C1058C TCGA-W6-AA0S-01A-11D-A417-09 ADCY8 8 131812682 131812682 + Missense_Mutation SNP T C g.chr8:131812682T>C c.3050A>G p.D1017G TCGA-W5-AA2G-01A-11D-A417-09 ADD2 2 70933527 70933527 + Missense_Mutation SNP G A g.chr2:70933527G>A c.14C>T p.T5M TCGA-3X-AAVE-01A-11D-A417-09 ADH6 4 100130084 100130084 + Splice_Site SNP A G g.chr4:100130084A>G c.569T>C p.V190A TCGA-W5-AA39-01A-11D-A417-09 ADK 10 76285055 76285055 + Silent SNP G T g.chr10:76285055G>T c.597G>T p.V199V TCGA-4G-AAZT-01A-11D-A417-09 ADRA2A 10 112838330 112838330 + Silent SNP C T g.chr10:112838330C>T c.576C>T p.G192G TCGA-ZH-A8Y5-01A-11D-A417-09 ADRA2A 10 112838890 112838890 + Missense_Mutation SNP G T g.chr10:112838890G>T c.1136G>T p.G379V TCGA-ZH-A8Y6-01A-11D-A417-09 ADRBK1 11 67049787 67049787 + Missense_Mutation SNP G T g.chr11:67049787G>T c.1003G>T p.D335Y TCGA-W5-AA30-01A-31D-A417-09 ADRBK1 11 67051372 67051372 + Silent SNP C T g.chr11:67051372C>T c.1443C>T p.D481D TCGA-W5-AA30-01A-31D-A417-09 ADRM1 20 60879633 60879633 + Splice_Site SNP G T g.chr20:60879633G>T c.330G>T p.Q110H TCGA-W5-AA2X-01A-11D-A417-09 AFF3 2 100199456 100199456 + Missense_Mutation SNP G T g.chr2:100199456G>T c.2597C>A p.A866E TCGA-YR-A95A-01A-12D-A417-09 AFF4 5 132228047 132228047 + Missense_Mutation SNP C A g.chr5:132228047C>A c.2446G>T p.A816S TCGA-3X-AAV9-01A-72D-A417-09 AFF4 5 132232701 132232701 + Nonsense_Mutation SNP C A g.chr5:132232701C>A c.1621G>T p.E541* TCGA-W5-AA2Z-01A-11D-A417-09 AFF4 5 132219204 132219204 + Silent SNP G A g.chr5:132219204G>A c.3192C>T p.G1064G TCGA-W5-AA38-01A-11D-A417-09 AGAP2 12 58121322 58121322 + Missense_Mutation SNP G C g.chr12:58121322G>C c.547G>C p.D183H TCGA-W5-AA2X-01A-11D-A417-09 AGAP2 12 58131300 58131302 + In_Frame_Del DEL CGG - g.chr12:58131300_58131302delCGG c.728_730delCCG p.A243del TCGA-W5-AA2X-01A-11D-A417-09 AGAP2 12 58131312 58131312 + Missense_Mutation SNP C T g.chr12:58131312C>T c.718G>A p.A240T TCGA-ZH-A8Y2-01A-11D-A417-09 AGAP6 10 51768543 51768543 + Missense_Mutation SNP T C g.chr10:51768543T>C c.589T>C p.S197P TCGA-W5-AA2Z-01A-11D-A417-09 AGAP6 10 51768543 51768543 + Missense_Mutation SNP T C g.chr10:51768543T>C c.589T>C p.S197P TCGA-W6-AA0S-01A-11D-A417-09 AGBL2 11 47701557 47701557 + Missense_Mutation SNP G T g.chr11:47701557G>T c.1984C>A p.L662I TCGA-3X-AAVA-01A-11D-A417-09 AGBL2 11 47727437 47727437 + Missense_Mutation SNP G T g.chr11:47727437G>T c.265C>A p.Q89K TCGA-W6-AA0S-01A-11D-A417-09 AGBL4 1 49056576 49056576 + Missense_Mutation SNP C T g.chr1:49056576C>T c.1033G>A p.D345N TCGA-YR-A95A-01A-12D-A417-09 AGFG1 2 228401415 228401415 + Missense_Mutation SNP T G g.chr2:228401415T>G c.1280T>G p.F427C TCGA-W5-AA39-01A-11D-A417-09 AGL 1 100366398 100366398 + Missense_Mutation SNP C T g.chr1:100366398C>T c.3569C>T p.P1190L TCGA-W5-AA38-01A-11D-A417-09 AGL 1 100346961 100346961 + Silent SNP C T g.chr1:100346961C>T c.2115C>T p.I705I TCGA-ZH-A8Y6-01A-11D-A417-09 AGTR2 23 115303767 115303767 + Silent SNP T C g.chrX:115303767T>C c.234T>C p.V78V TCGA-W5-AA2R-01A-11D-A417-09 AGTR2 23 115304157 115304157 + Silent SNP A T g.chrX:115304157A>T c.624A>T p.S208S TCGA-WD-A7RX-01A-12D-A417-09 AHCTF1 1 247025439 247025439 + Missense_Mutation SNP G A g.chr1:247025439G>A c.3557C>T p.A1186V TCGA-W5-AA2Q-01A-11D-A417-09 AHCYL1 1 110555049 110555049 + Missense_Mutation SNP A C g.chr1:110555049A>C c.442A>C p.I148L TCGA-W5-AA39-01A-11D-A417-09 AHI1 6 135763821 135763821 + Nonsense_Mutation SNP G T g.chr6:135763821G>T c.1811C>A p.S604* TCGA-4G-AAZO-01A-12D-A417-09 AHNAK 11 62287880 62287880 + Missense_Mutation SNP G T g.chr11:62287880G>T c.14009C>A p.P4670Q TCGA-4G-AAZO-01A-12D-A417-09 AHNAK 11 62300279 62300279 + Missense_Mutation SNP T A g.chr11:62300279T>A c.1610A>T p.K537I TCGA-W5-AA2U-01A-11D-A417-09 AHNAK 11 62289154 62289154 + Missense_Mutation SNP G C g.chr11:62289154G>C c.12735C>G p.F4245L TCGA-W5-AA34-01A-11D-A417-09 AHNAK 11 62299800 62299800 + Missense_Mutation SNP T A g.chr11:62299800T>A c.2089A>T p.I697F TCGA-W5-AA39-01A-11D-A417-09 AHNAK 11 62292529 62292529 + Missense_Mutation SNP C G g.chr11:62292529C>G c.9360G>C p.M3120I TCGA-ZD-A8I3-01A-11D-A417-09 AHNAK2 14 105411931 105411931 + Missense_Mutation SNP T C g.chr14:105411931T>C c.9857A>G p.D3286G TCGA-3X-AAVC-01A-21D-A417-09 AHNAK2 14 105412163 105412163 + Missense_Mutation SNP C G g.chr14:105412163C>G c.9625G>C p.V3209L TCGA-W5-AA2R-01A-11D-A417-09 AHNAK2 14 105414880 105414880 + Missense_Mutation SNP T C g.chr14:105414880T>C c.6908A>G p.D2303G TCGA-W5-AA39-01A-11D-A417-09 AHNAK2 14 105415064 105415064 + Missense_Mutation SNP G A g.chr14:105415064G>A c.6724C>T p.P2242S TCGA-ZH-A8Y5-01A-11D-A417-09 AHRR 5 434622 434622 + Silent SNP C T g.chr5:434622C>T c.1779C>T p.H593H TCGA-W5-AA2T-01A-12D-A417-09 AHSA2 2 61413903 61413903 + IGR SNP G T g.chr2:61413903G>T TCGA-4G-AAZO-01A-12D-A417-09 AICDA 12 8757981 8757981 + Missense_Mutation SNP G T g.chr12:8757981G>T c.257C>A p.P86H TCGA-WD-A7RX-01A-12D-A417-09 AIFM3 22 21333952 21333952 + Missense_Mutation SNP G T g.chr22:21333952G>T c.1613G>T p.G538V TCGA-W5-AA39-01A-11D-A417-09 AIM1 6 107006479 107006479 + Missense_Mutation SNP C T g.chr6:107006479C>T c.4610C>T p.S1537F TCGA-W5-AA39-01A-11D-A417-09 AIM1 6 106991412 106991412 + Missense_Mutation SNP C G g.chr6:106991412C>G c.3755C>G p.A1252G TCGA-ZD-A8I3-01A-11D-A417-09 AIM2 1 159038461 159038461 + Missense_Mutation SNP G T g.chr1:159038461G>T c.293C>A p.P98Q TCGA-ZD-A8I3-01A-11D-A417-09 AIMP2 7 6062935 6062935 + Splice_Site SNP G T g.chr7:6062935G>T c.576G>T p.V192V TCGA-ZH-A8Y2-01A-11D-A417-09 AK2 1 33476435 33476435 + Splice_Site SNP C A g.chr1:33476435C>A TCGA-W5-AA2X-01A-11D-A417-09 AK3 9 4740952 4740952 + Missense_Mutation SNP T C g.chr9:4740952T>C c.136A>G p.M46V TCGA-W5-AA2X-01A-11D-A417-09 AKAP1 17 55195744 55195744 + Missense_Mutation SNP G A g.chr17:55195744G>A c.2503G>A p.D835N TCGA-3X-AAV9-01A-72D-A417-09 AKAP11 13 42873939 42873939 + Missense_Mutation SNP A C g.chr13:42873939A>C c.1057A>C p.S353R TCGA-W5-AA2O-01A-11D-A417-09 AKAP12 6 151674611 151674611 + Silent SNP G T g.chr6:151674611G>T c.5085G>T p.P1695P TCGA-W5-AA2T-01A-12D-A417-09 AKAP13 15 86125248 86125248 + Missense_Mutation SNP G A g.chr15:86125248G>A c.3949G>A p.E1317K TCGA-W5-AA2W-01A-11D-A417-09 AKAP13 15 86284600 86284600 + Missense_Mutation SNP G T g.chr15:86284600G>T c.7932G>T p.K2644N TCGA-W6-AA0S-01A-11D-A417-09 AKAP9 7 91729135 91729135 + Silent SNP G A g.chr7:91729135G>A c.10860G>A p.L3620L TCGA-ZH-A8Y6-01A-11D-A417-09 AKNA 9 117105995 117105995 + Silent SNP C T g.chr9:117105995C>T c.3750G>A p.Q1250Q TCGA-W5-AA2O-01A-11D-A417-09 AKR1C4 10 5242162 5242162 + Missense_Mutation SNP G T g.chr10:5242162G>T c.103G>T p.V35L TCGA-3X-AAVA-01A-11D-A417-09 AKR7A2 1 19632584 19632584 + Silent SNP G T g.chr1:19632584G>T c.846C>A p.A282A TCGA-4G-AAZO-01A-12D-A417-09 AKR7L 1 19597309 19597309 + RNA SNP A G g.chr1:19597309A>G TCGA-W5-AA39-01A-11D-A417-09 AKT3 1 243663078 243663078 + Silent SNP T A g.chr1:243663078T>A c.2133T>A p.S711S TCGA-W5-AA39-01A-11D-A417-09 ALB 4 74279212 74279212 + Frame_Shift_Del DEL C - g.chr4:74279212delC c.469delC p.L158fs TCGA-W5-AA2I-01A-32D-A417-09 ALB 4 74276063 74276063 + Missense_Mutation SNP C T g.chr4:74276063C>T c.200C>T p.S67F TCGA-W5-AA2T-01A-12D-A417-09 ALB 4 74274503 74274507 + Frame_Shift_Del DEL GAAGA - g.chr4:74274503_74274507delGAAGA c.463_467delGAAGA p.EE155fs TCGA-W5-AA39-01A-11D-A417-09 ALDH16A1 19 49973687 49973687 + Missense_Mutation SNP C T g.chr19:49973687C>T c.2372C>T p.A791V TCGA-W5-AA34-01A-11D-A417-09 ALDH3A1 17 19645434 19645434 + Missense_Mutation SNP C G g.chr17:19645434C>G c.572G>C p.G191A TCGA-W5-AA2G-01A-11D-A417-09 ALG11 13 52598853 52598853 + De_novo_Start_OutOfFrame SNP G A g.chr13:52598853G>A TCGA-W5-AA39-01A-11D-A417-09 ALLC 2 3744995 3744995 + Missense_Mutation SNP G T g.chr2:3744995G>T c.799G>T p.A267S TCGA-W5-AA2R-01A-11D-A417-09 ALLC 2 3730548 3730548 + Missense_Mutation SNP G T g.chr2:3730548G>T c.395G>T p.W132L TCGA-ZU-A8S4-01A-11D-A417-09 ALMS1 2 73800387 73800387 + Missense_Mutation SNP G T g.chr2:73800387G>T c.11380G>T p.G3794C TCGA-W5-AA2T-01A-12D-A417-09 ALMS1 2 73676231 73676231 + Silent SNP G T g.chr2:73676231G>T c.2574G>T p.A858A TCGA-W5-AA30-01A-31D-A417-09 ALMS1 2 73613037 73613037 + Missense_Mutation SNP A T g.chr2:73613037A>T c.41A>T p.E14V TCGA-ZD-A8I3-01A-11D-A417-09 ALMS1 2 73682297 73682297 + Missense_Mutation SNP A C g.chr2:73682297A>C c.7546A>C p.M2516L TCGA-ZU-A8S4-01A-11D-A417-09 ALOX12B 17 7976095 7976095 + Silent SNP A G g.chr17:7976095A>G c.2100T>C p.S700S TCGA-W5-AA39-01A-11D-A417-09 ALOX15 17 4542400 4542400 + Missense_Mutation SNP C T g.chr17:4542400C>T c.365G>A p.G122D TCGA-W5-AA2Q-01A-11D-A417-09 ALPK2 18 56202476 56202476 + Missense_Mutation SNP G T g.chr18:56202476G>T c.4943C>A p.S1648Y TCGA-WD-A7RX-01A-12D-A417-09 ALPK3 15 85401487 85401487 + Missense_Mutation SNP G C g.chr15:85401487G>C c.4124G>C p.R1375T TCGA-3X-AAV9-01A-72D-A417-09 ALPK3 15 85400849 85400849 + Silent SNP G A g.chr15:85400849G>A c.3486G>A p.L1162L TCGA-3X-AAVE-01A-11D-A417-09 ALS2 2 202593249 202593249 + Missense_Mutation SNP G T g.chr2:202593249G>T c.2827C>A p.L943M TCGA-W5-AA2O-01A-11D-A417-09 ALS2CR11 2 202359173 202359173 + Intron SNP G T g.chr2:202359173G>T TCGA-ZH-A8Y8-01A-51D-A417-09 ALS2CR12 2 202216087 202216087 + Missense_Mutation SNP G T g.chr2:202216087G>T c.41C>A p.P14H TCGA-W5-AA38-01A-11D-A417-09 AMBP 9 116840382 116840382 + Silent SNP A G g.chr9:116840382A>G c.108T>C p.N36N TCGA-W5-AA39-01A-11D-A417-09 AMBRA1 11 46564499 46564499 + Silent SNP C T g.chr11:46564499C>T c.1068G>A p.S356S TCGA-4G-AAZT-01A-11D-A417-09 AMBRA1 11 46529852 46529852 + Missense_Mutation SNP T C g.chr11:46529852T>C c.2228A>G p.Q743R TCGA-W5-AA2U-01A-11D-A417-09 AMFR 16 56442015 56442015 + Missense_Mutation SNP G T g.chr16:56442015G>T c.527C>A p.P176H TCGA-W5-AA38-01A-11D-A417-09 AMMECR1L 2 128628430 128628430 + Silent SNP G T g.chr2:128628430G>T c.591C>A p.L197L TCGA-W5-AA30-01A-31D-A417-09 AMPD1 1 115218557 115218557 + Missense_Mutation SNP C T g.chr1:115218557C>T c.1555G>A p.V519M TCGA-W5-AA34-01A-11D-A417-09 AMY2A 1 104160125 104160125 + Silent SNP A T g.chr1:104160125A>T c.63A>T p.T21T TCGA-WD-A7RX-01A-12D-A417-09 ANAPC4 4 25419867 25419867 + Missense_Mutation SNP G A g.chr4:25419867G>A c.2290G>A p.A764T TCGA-3X-AAVA-01A-11D-A417-09 ANGEL1 14 77275681 77275681 + Missense_Mutation SNP C A g.chr14:77275681C>A c.370G>T p.D124Y TCGA-W5-AA2Q-01A-11D-A417-09 ANGEL1 14 77274347 77274347 + Missense_Mutation SNP T C g.chr14:77274347T>C c.794A>G p.Y265C TCGA-W5-AA30-01A-31D-A417-09 ANGEL2 1 213178743 213178743 + Missense_Mutation SNP T C g.chr1:213178743T>C c.766A>G p.I256V TCGA-W5-AA2X-01A-11D-A417-09 ANGPT1 8 108315583 108315583 + Missense_Mutation SNP C A g.chr8:108315583C>A c.221G>T p.G74V TCGA-3X-AAVC-01A-21D-A417-09 ANGPT4 20 870928 870928 + Missense_Mutation SNP C T g.chr20:870928C>T c.393G>A p.M131I TCGA-W5-AA30-01A-31D-A417-09 ANK1 8 41550703 41550703 + Silent SNP G T g.chr8:41550703G>T c.3549C>A p.A1183A TCGA-W5-AA2Q-01A-11D-A417-09 ANK1 8 41525850 41525850 + Missense_Mutation SNP G A g.chr8:41525850G>A c.5329C>T p.R1777W TCGA-W5-AA34-01A-11D-A417-09 ANK1 8 41571689 41571689 + Silent SNP C T g.chr8:41571689C>T c.1785G>A p.P595P TCGA-W6-AA0S-01A-11D-A417-09 ANK2 4 114282026 114282026 + Missense_Mutation SNP G A g.chr4:114282026G>A c.10729G>A p.A3577T TCGA-W5-AA30-01A-31D-A417-09 ANK2 4 114271399 114271400 + Frame_Shift_Ins INS - A g.chr4:114271399_114271400insA c.4420_4421insA p.E1474fs TCGA-ZD-A8I3-01A-11D-A417-09 ANK3 10 61828580 61828580 + Missense_Mutation SNP T C g.chr10:61828580T>C c.12059A>G p.K4020R TCGA-3X-AAVC-01A-21D-A417-09 ANK3 10 61994461 61994461 + Silent SNP G T g.chr10:61994461G>T c.882C>A p.I294I TCGA-W5-AA2Q-01A-11D-A417-09 ANK3 10 61959898 61959898 + Missense_Mutation SNP C T g.chr10:61959898C>T c.1480G>A p.A494T TCGA-W5-AA34-01A-11D-A417-09 ANKFN1 17 54431318 54431318 + Missense_Mutation SNP G A g.chr17:54431318G>A c.521G>A p.G174D TCGA-WD-A7RX-01A-12D-A417-09 ANKFY1 17 4098471 4098471 + Splice_Site SNP G C g.chr17:4098471G>C c.1174C>G p.L392V TCGA-W5-AA39-01A-11D-A417-09 ANKFY1 17 4113218 4113218 + Silent SNP T G g.chr17:4113218T>G c.483A>C p.L161L TCGA-W5-AA39-01A-11D-A417-09 ANKHD1 5 139885404 139885404 + Nonsense_Mutation SNP C T g.chr5:139885404C>T c.3358C>T p.R1120* TCGA-W5-AA2W-01A-11D-A417-09 ANKIB1 7 92027127 92027127 + Missense_Mutation SNP G T g.chr7:92027127G>T c.2486G>T p.R829L TCGA-W5-AA2W-01A-11D-A417-09 ANKK1 11 113270029 113270029 + Silent SNP G T g.chr11:113270029G>T c.1338G>T p.L446L TCGA-W5-AA2R-01A-11D-A417-09 ANKK1 11 113270133 113270133 + Missense_Mutation SNP T A g.chr11:113270133T>A c.1442T>A p.V481D TCGA-ZU-A8S4-01A-11D-A417-09 ANKLE2 12 133331415 133331415 + Silent SNP G T g.chr12:133331415G>T c.486C>A p.G162G TCGA-ZH-A8Y6-01A-11D-A417-09 ANKMY1 2 241451322 241451322 + Missense_Mutation SNP T C g.chr2:241451322T>C c.1975A>G p.R659G TCGA-W5-AA39-01A-11D-A417-09 ANKRD12 18 9254584 9254584 + Missense_Mutation SNP C G g.chr18:9254584C>G c.1319C>G p.S440C TCGA-ZH-A8Y5-01A-11D-A417-09 ANKRD13C 1 70779446 70779446 + Missense_Mutation SNP A T g.chr1:70779446A>T c.691T>A p.W231R TCGA-W5-AA39-01A-11D-A417-09 ANKRD16 10 5925099 5925099 + Missense_Mutation SNP G A g.chr10:5925099G>A c.719C>T p.A240V TCGA-3X-AAVB-01A-31D-A417-09 ANKRD17 4 73943167 73943167 + Missense_Mutation SNP G T g.chr4:73943167G>T c.7492C>A p.Q2498K TCGA-W5-AA33-01A-11D-A417-09 ANKRD17 4 73962894 73962894 + Missense_Mutation SNP G T g.chr4:73962894G>T c.5117C>A p.T1706K TCGA-W5-AA34-01A-11D-A417-09 ANKRD17 4 73979583 73979583 + Missense_Mutation SNP G T g.chr4:73979583G>T c.4327C>A p.Q1443K TCGA-W5-AA39-01A-11D-A417-09 ANKRD17 4 74019647 74019647 + Missense_Mutation SNP G T g.chr4:74019647G>T c.1184C>A p.T395K TCGA-ZH-A8Y8-01A-51D-A417-09 ANKRD24 19 4217178 4217178 + Missense_Mutation SNP C T g.chr19:4217178C>T c.2021C>T p.A674V TCGA-3X-AAVC-01A-21D-A417-09 ANKRD28 3 15749477 15749477 + Missense_Mutation SNP C A g.chr3:15749477C>A c.1411G>T p.G471C TCGA-3X-AAV9-01A-72D-A417-09 ANKRD30B 18 14757844 14757844 + Silent SNP C T g.chr18:14757844C>T c.648C>T p.G216G TCGA-ZH-A8Y8-01A-51D-A417-09 ANKRD32 5 93966366 93966366 + Missense_Mutation SNP C T g.chr5:93966366C>T c.349C>T p.R117C TCGA-3X-AAV9-01A-72D-A417-09 ANKRD33 12 52284827 52284827 + Intron SNP C T g.chr12:52284827C>T TCGA-3X-AAV9-01A-72D-A417-09 ANKRD34A 1 145473924 145473924 + Missense_Mutation SNP T G g.chr1:145473924T>G c.596T>G p.M199R TCGA-3X-AAVB-01A-31D-A417-09 ANKRD36 2 97877449 97877449 + Frame_Shift_Del DEL A - g.chr2:97877449delA c.3440delA p.E1147fs TCGA-W5-AA2R-01A-11D-A417-09 ANKRD36 2 97911242 97911242 + Missense_Mutation SNP G C g.chr2:97911242G>C c.4918G>C p.D1640H TCGA-ZH-A8Y1-01A-11D-A417-09 ANKRD42 11 82935942 82935942 + Missense_Mutation SNP T G g.chr11:82935942T>G c.548T>G p.L183R TCGA-W5-AA39-01A-11D-A417-09 ANKRD44 2 198051784 198051784 + Missense_Mutation SNP C A g.chr2:198051784C>A c.74G>T p.R25L TCGA-W5-AA2Q-01A-11D-A417-09 ANKS1A 6 34949681 34949681 + Missense_Mutation SNP C T g.chr6:34949681C>T c.650C>T p.T217I TCGA-W5-AA2X-01A-11D-A417-09 ANO1 11 69950201 69950201 + Missense_Mutation SNP A T g.chr11:69950201A>T c.637A>T p.R213W TCGA-ZH-A8Y5-01A-11D-A417-09 ANO6 12 45803228 45803228 + Missense_Mutation SNP C T g.chr12:45803228C>T c.1969C>T p.P657S TCGA-W5-AA38-01A-11D-A417-09 ANO7 2 242135132 242135132 + Missense_Mutation SNP G A g.chr2:242135132G>A c.343G>A p.V115I TCGA-ZH-A8Y5-01A-11D-A417-09 ANO8 19 17435833 17435833 + Silent SNP A G g.chr19:17435833A>G c.3024T>C p.P1008P TCGA-YR-A95A-01A-12D-A417-09 ANPEP 15 90335685 90335685 + Missense_Mutation SNP G T g.chr15:90335685G>T c.2358C>A p.N786K TCGA-W5-AA31-01A-11D-A417-09 ANPEP 15 90336304 90336304 + Silent SNP G T g.chr15:90336304G>T c.2211C>A p.T737T TCGA-WD-A7RX-01A-12D-A417-09 ANTXR1 2 69420523 69420523 + Silent SNP G T g.chr2:69420523G>T c.1410G>T p.V470V TCGA-ZD-A8I3-01A-11D-A417-09 ANXA2 15 60644601 60644601 + Silent SNP G A g.chr15:60644601G>A c.663C>T p.S221S TCGA-W5-AA34-01A-11D-A417-09 ANXA6 5 150484839 150484839 + Silent SNP G C g.chr5:150484839G>C c.1806C>G p.L602L TCGA-ZH-A8Y6-01A-11D-A417-09 ANXA9 1 150956496 150956496 + Missense_Mutation SNP G T g.chr1:150956496G>T c.218G>T p.R73I TCGA-W5-AA39-01A-11D-A417-09 AOX1 2 201478642 201478642 + Missense_Mutation SNP T C g.chr2:201478642T>C c.1564T>C p.F522L TCGA-W5-AA39-01A-11D-A417-09 AOX1 2 201531474 201531474 + Splice_Site SNP A T g.chr2:201531474A>T c.3608A>T p.Q1203L TCGA-W5-AA39-01A-11D-A417-09 AP2A1 19 50303257 50303257 + Silent SNP C T g.chr19:50303257C>T c.1305C>T p.Y435Y TCGA-3X-AAVB-01A-31D-A417-09 AP2S1 19 47349293 47349293 + Missense_Mutation SNP G T g.chr19:47349293G>T c.110C>A p.A37D TCGA-W5-AA2W-01A-11D-A417-09 AP3M2 8 42015516 42015516 + Nonsense_Mutation SNP G T g.chr8:42015516G>T c.331G>T p.E111* TCGA-3X-AAVA-01A-11D-A417-09 AP3S2 15 90431760 90431760 + Missense_Mutation SNP A G g.chr15:90431760A>G c.266T>C p.L89P TCGA-W5-AA39-01A-11D-A417-09 AP3S2 15 90431767 90431767 + Missense_Mutation SNP A C g.chr15:90431767A>C c.259T>G p.L87V TCGA-W5-AA39-01A-11D-A417-09 APAF1 12 99106135 99106135 + Silent SNP T C g.chr12:99106135T>C c.2880T>C p.T960T TCGA-W5-AA2U-01A-11D-A417-09 APAF1 12 99080607 99080607 + Missense_Mutation SNP G T g.chr12:99080607G>T c.2260G>T p.D754Y TCGA-W5-AA39-01A-11D-A417-09 APBB3 5 139938329 139938329 + Frame_Shift_Del DEL C - g.chr5:139938329delC c.1302delG p.R434fs TCGA-W5-AA39-01A-11D-A417-09 APBB3 5 139938333 139938335 + In_Frame_Del DEL AGG - g.chr5:139938333_139938335delAGG c.1296_1298delCCT p.L433del TCGA-W5-AA39-01A-11D-A417-09 APBB3 5 139938337 139938338 + Frame_Shift_Del DEL GG - g.chr5:139938337_139938338delGG c.1293_1294delCC p.R432fs TCGA-W5-AA39-01A-11D-A417-09 APBB3 5 139939978 139939978 + Missense_Mutation SNP G C g.chr5:139939978G>C c.1144C>G p.R382G TCGA-W5-AA39-01A-11D-A417-09 APC 5 112175124 112175124 + Missense_Mutation SNP C T g.chr5:112175124C>T c.3833C>T p.S1278L TCGA-4G-AAZO-01A-12D-A417-09 APC 5 112176192 112176192 + Missense_Mutation SNP C A g.chr5:112176192C>A c.4901C>A p.P1634Q TCGA-W5-AA2H-01A-31D-A417-09 APC 5 112175530 112175530 + Frame_Shift_Del DEL G - g.chr5:112175530delG c.4239delG p.M1413fs TCGA-W5-AA2X-01A-11D-A417-09 APC 5 112155042 112155042 + Splice_Site SNP G T g.chr5:112155042G>T TCGA-W5-AA38-01A-11D-A417-09 APH1A 1 150238956 150238956 + Missense_Mutation SNP C A g.chr1:150238956C>A c.710G>T p.R237L TCGA-W5-AA31-01A-11D-A417-09 APLF 2 68765137 68765137 + Missense_Mutation SNP G A g.chr2:68765137G>A c.938G>A p.R313K TCGA-4G-AAZO-01A-12D-A417-09 APLP2 11 129992294 129992294 + Missense_Mutation SNP G T g.chr11:129992294G>T c.808G>T p.D270Y TCGA-W5-AA38-01A-11D-A417-09 APOA4 11 116691593 116691593 + Missense_Mutation SNP A C g.chr11:116691593A>C c.1181T>G p.L394W TCGA-YR-A95A-01A-12D-A417-09 APOB 2 21246522 21246522 + Missense_Mutation SNP G T g.chr2:21246522G>T c.2479C>A p.L827I TCGA-3X-AAV9-01A-72D-A417-09 APOB 2 21225533 21225533 + Frame_Shift_Del DEL G - g.chr2:21225533delG c.12761delC p.P4254fs TCGA-W5-AA30-01A-31D-A417-09 APOB 2 21235170 21235170 + Missense_Mutation SNP A G g.chr2:21235170A>G c.4570T>C p.S1524P TCGA-W5-AA39-01A-11D-A417-09 APOB48R 16 28507458 28507458 + Missense_Mutation SNP G A g.chr16:28507458G>A c.1069G>A p.A357T TCGA-W5-AA30-01A-31D-A417-09 APOBEC4 1 183617622 183617622 + Missense_Mutation SNP A T g.chr1:183617622A>T c.295T>A p.F99I TCGA-3X-AAVC-01A-21D-A417-09 APOL2 22 36624205 36624205 + Missense_Mutation SNP G A g.chr22:36624205G>A c.259C>T p.R87W TCGA-W5-AA39-01A-11D-A417-09 APP 21 27277339 27277339 + Missense_Mutation SNP G C g.chr21:27277339G>C c.1960C>G p.P654A TCGA-W5-AA2U-01A-11D-A417-09 APPL1 3 57272144 57272144 + Splice_Site SNP G T g.chr3:57272144G>T c.285G>T p.E95D TCGA-4G-AAZT-01A-11D-A417-09 APPL1 3 57283498 57283498 + Missense_Mutation SNP T G g.chr3:57283498T>G c.974T>G p.I325R TCGA-ZH-A8Y6-01A-11D-A417-09 AQP10 1 154296076 154296076 + Silent SNP T G g.chr1:154296076T>G c.501T>G p.T167T TCGA-W5-AA2R-01A-11D-A417-09 AQP12B 2 241621970 241621970 + Silent SNP G A g.chr2:241621970G>A c.285C>T p.T95T TCGA-W6-AA0S-01A-11D-A417-09 AQP7 9 33385274 33385274 + 3'UTR SNP C A g.chr9:33385274C>A TCGA-4G-AAZO-01A-12D-A417-09 AQPEP 5 115351066 115351066 + Silent SNP T A g.chr5:115351066T>A c.2568T>A p.I856I TCGA-3X-AAVA-01A-11D-A417-09 AQR 15 35155082 35155082 + Missense_Mutation SNP G T g.chr15:35155082G>T c.4015C>A p.P1339T TCGA-W5-AA2H-01A-31D-A417-09 AQR 15 35185921 35185921 + Silent SNP G T g.chr15:35185921G>T c.2514C>A p.S838S TCGA-W5-AA2X-01A-11D-A417-09 AR 23 66765910 66765910 + Missense_Mutation SNP G A g.chrX:66765910G>A c.922G>A p.E308K TCGA-W5-AA2T-01A-12D-A417-09 ARAF 23 47426127 47426127 + Missense_Mutation SNP C T g.chrX:47426127C>T c.647C>T p.P216L TCGA-ZH-A8Y2-01A-11D-A417-09 ARAF 23 47426127 47426127 + Missense_Mutation SNP C T g.chrX:47426127C>T c.647C>T p.P216L TCGA-ZH-A8Y4-01A-11D-A417-09 ARAP2 4 36152626 36152626 + Silent SNP C T g.chr4:36152626C>T c.2793G>A p.L931L TCGA-3X-AAVC-01A-21D-A417-09 ARAP3 5 141039000 141039000 + Missense_Mutation SNP A T g.chr5:141039000A>T c.3311T>A p.L1104H TCGA-3X-AAVC-01A-21D-A417-09 ARFGAP2 11 47196607 47196607 + Missense_Mutation SNP G T g.chr11:47196607G>T c.439C>A p.P147T TCGA-3X-AAVA-01A-11D-A417-09 ARFGAP2 11 47188426 47188426 + Missense_Mutation SNP C T g.chr11:47188426C>T c.1217G>A p.R406Q TCGA-4G-AAZT-01A-11D-A417-09 ARFGAP2 11 47196591 47196591 + Missense_Mutation SNP G T g.chr11:47196591G>T c.455C>A p.S152Y TCGA-W5-AA2R-01A-11D-A417-09 ARFGEF2 20 47569405 47569405 + Missense_Mutation SNP G A g.chr20:47569405G>A c.587G>A p.R196H TCGA-ZH-A8Y5-01A-11D-A417-09 ARG2 14 68114848 68114848 + Silent SNP G T g.chr14:68114848G>T c.807G>T p.G269G TCGA-3X-AAVB-01A-31D-A417-09 ARHGAP19 10 99024582 99024582 + Splice_Site SNP C T g.chr10:99024582C>T TCGA-ZH-A8Y5-01A-11D-A417-09 ARHGAP21 10 24889838 24889838 + Missense_Mutation SNP G A g.chr10:24889838G>A c.2869C>T p.P957S TCGA-ZH-A8Y2-01A-11D-A417-09 ARHGAP24 4 86921760 86921760 + Missense_Mutation SNP C T g.chr4:86921760C>T c.2132C>T p.A711V TCGA-3X-AAVE-01A-11D-A417-09 ARHGAP28 18 6873450 6873450 + Missense_Mutation SNP G C g.chr18:6873450G>C c.997G>C p.G333R TCGA-ZU-A8S4-01A-11D-A417-09 ARHGAP29 1 94650575 94650575 + Silent SNP G A g.chr1:94650575G>A c.1962C>T p.V654V TCGA-ZH-A8Y6-01A-11D-A417-09 ARHGAP36 23 130218321 130218321 + Missense_Mutation SNP C G g.chrX:130218321C>G c.688C>G p.P230A TCGA-W5-AA2Z-01A-11D-A417-09 ARHGAP5 14 32563150 32563150 + Missense_Mutation SNP C T g.chr14:32563150C>T c.3275C>T p.A1092V TCGA-W5-AA2W-01A-11D-A417-09 ARHGEF11 1 156914912 156914912 + Missense_Mutation SNP C T g.chr1:156914912C>T c.2770G>A p.V924I TCGA-W5-AA2Z-01A-11D-A417-09 ARHGEF3 3 56807804 56807804 + Missense_Mutation SNP G A g.chr3:56807804G>A c.137C>T p.T46M TCGA-3X-AAVC-01A-21D-A417-09 ARHGEF38 4 106552107 106552107 + Nonsense_Mutation SNP C G g.chr4:106552107C>G c.561C>G p.Y187* TCGA-3X-AAV9-01A-72D-A417-09 ARHGEF4 2 131797699 131797699 + Silent SNP C G g.chr2:131797699C>G c.858C>G p.T286T TCGA-W5-AA2T-01A-12D-A417-09 ARHGEF7 13 111953840 111953840 + Silent SNP C A g.chr13:111953840C>A c.1956C>A p.T652T TCGA-4G-AAZO-01A-12D-A417-09 ARID1A 1 27107135 27107136 + Frame_Shift_Ins INS - A g.chr1:27107135_27107136insA c.6746_6747insA p.E2250fs TCGA-4G-AAZO-01A-12D-A417-09 ARID1A 1 27099298 27099318 + Splice_Site DEL TGGAGCAGGAGCAATTCAGTT - g.chr1:27099298_27099318delTGGAGCAGGAGCAATTCAGTT c.3539_3555delTGGAGCAGGAGCAATTCAGTT p.MEQEQF1180del TCGA-4G-AAZT-01A-11D-A417-09 ARID1A 1 27100375 27100375 + Missense_Mutation SNP C A g.chr1:27100375C>A c.4087C>A p.Q1363K TCGA-WD-A7RX-01A-12D-A417-09 ARID1A 1 27101387 27101394 + Frame_Shift_Del DEL CCCTCTGC - g.chr1:27101387_27101394delCCCTCTGC c.4669_4676delCCCTCTGC p.PSA1557fs TCGA-WD-A7RX-01A-12D-A417-09 ARID1A 1 27101427 27101428 + Frame_Shift_Ins INS - T g.chr1:27101427_27101428insT c.4709_4710insT p.N1571fs TCGA-YR-A95A-01A-12D-A417-09 ARID1A 1 27101384 27101394 + Frame_Shift_Del DEL GGTCCCTCTGC - g.chr1:27101384_27101394delGGTCCCTCTGC c.4666_4676delGGTCCCTCTGC p.GPSA1556fs TCGA-ZD-A8I3-01A-11D-A417-09 ARID1A 1 27106011 27106011 + Silent SNP C T g.chr1:27106011C>T c.5622C>T p.C1874C TCGA-ZH-A8Y6-01A-11D-A417-09 ARID1B 6 157469954 157469954 + Missense_Mutation SNP G T g.chr6:157469954G>T c.2709G>T p.M903I TCGA-3X-AAVE-01A-11D-A417-09 ARID1B 6 157522560 157522560 + Missense_Mutation SNP G A g.chr6:157522560G>A c.4793G>A p.G1598D TCGA-W5-AA2H-01A-31D-A417-09 ARID1B 6 157505453 157505453 + Missense_Mutation SNP A G g.chr6:157505453A>G c.3395A>G p.Y1132C TCGA-W5-AA39-01A-11D-A417-09 ARID1B 6 157517340 157517340 + Frame_Shift_Del DEL C - g.chr6:157517340delC c.3865delC p.P1289fs TCGA-ZH-A8Y8-01A-51D-A417-09 ARID2 12 46245336 46245336 + Missense_Mutation SNP C T g.chr12:46245336C>T c.3430C>T p.P1144S TCGA-ZH-A8Y5-01A-11D-A417-09 ARID4B 1 235331898 235331898 + Missense_Mutation SNP A G g.chr1:235331898A>G c.3881T>C p.L1294S TCGA-ZD-A8I3-01A-11D-A417-09 ARID5A 2 97217620 97217620 + Missense_Mutation SNP C T g.chr2:97217620C>T c.1355C>T p.A452V TCGA-W5-AA2G-01A-11D-A417-09 ARL8A 1 202107156 202107156 + Missense_Mutation SNP A G g.chr1:202107156A>G c.215T>C p.I72T TCGA-W5-AA39-01A-11D-A417-09 ARMC4 10 28196701 28196701 + Missense_Mutation SNP A G g.chr10:28196701A>G c.2501T>C p.I834T TCGA-W5-AA39-01A-11D-A417-09 ARMC5 16 31471168 31471169 + Frame_Shift_Ins INS - C g.chr16:31471168_31471169insC c.323_324insC p.GP108fs TCGA-W5-AA2Q-01A-11D-A417-09 ARMC6 19 19162649 19162649 + Silent SNP T C g.chr19:19162649T>C c.498T>C p.T166T TCGA-W5-AA39-01A-11D-A417-09 ARMC8 3 137960639 137960639 + Missense_Mutation SNP G T g.chr3:137960639G>T c.852G>T p.L284F TCGA-ZD-A8I3-01A-11D-A417-09 ARMC9 2 232070973 232070973 + Missense_Mutation SNP G A g.chr2:232070973G>A c.22G>A p.E8K TCGA-W5-AA2Q-01A-11D-A417-09 ARNTL2 12 27573423 27573423 + Silent SNP G T g.chr12:27573423G>T c.1869G>T p.L623L TCGA-W5-AA2Q-01A-11D-A417-09 ARPC2 2 219104121 219104121 + Missense_Mutation SNP G A g.chr2:219104121G>A c.463G>A p.E155K TCGA-ZH-A8Y4-01A-11D-A417-09 ARSD 23 2825480 2825480 + Silent SNP G A g.chrX:2825480G>A c.1614C>T p.H538H TCGA-W5-AA2R-01A-11D-A417-09 ARSD 23 2836254 2836254 + Missense_Mutation SNP C T g.chrX:2836254C>T c.454G>A p.G152S TCGA-W5-AA39-01A-11D-A417-09 ARSE 23 2876371 2876371 + Silent SNP C G g.chrX:2876371C>G c.129G>C p.L43L TCGA-W5-AA39-01A-11D-A417-09 ARSH 23 2945415 2945415 + Silent SNP G T g.chrX:2945415G>T c.1098G>T p.P366P TCGA-W5-AA30-01A-31D-A417-09 ARSI 5 149678175 149678175 + Splice_Site SNP C A g.chr5:149678175C>A c.312G>T p.R104S TCGA-W5-AA31-01A-11D-A417-09 ART5 11 3661209 3661209 + Nonsense_Mutation SNP G T g.chr11:3661209G>T c.450C>A p.C150* TCGA-ZH-A8Y5-01A-11D-A417-09 ASAP1 8 131070296 131070296 + Missense_Mutation SNP C A g.chr8:131070296C>A c.3219G>T p.K1073N TCGA-4G-AAZO-01A-12D-A417-09 ASB16 17 42248325 42248325 + Silent SNP C T g.chr17:42248325C>T c.168C>T p.C56C TCGA-ZH-A8Y6-01A-11D-A417-09 ASB2 14 94401066 94401066 + Missense_Mutation SNP A G g.chr14:94401066A>G c.1700T>C p.L567P TCGA-W5-AA39-01A-11D-A417-09 ASB7 15 101170164 101170164 + Missense_Mutation SNP A G g.chr15:101170164A>G c.734A>G p.Y245C TCGA-3X-AAVE-01A-11D-A417-09 ASCC1 10 73956736 73956736 + Nonsense_Mutation SNP G A g.chr10:73956736G>A c.406C>T p.Q136* TCGA-3X-AAV9-01A-72D-A417-09 ASCC2 22 30186459 30186459 + Splice_Site SNP C A g.chr22:30186459C>A c.2101G>T p.G701W TCGA-W5-AA39-01A-11D-A417-09 ASCC2 22 30212002 30212002 + Missense_Mutation SNP A G g.chr22:30212002A>G c.602T>C p.I201T TCGA-ZH-A8Y6-01A-11D-A417-09 ASCC3 6 101100758 101100758 + Missense_Mutation SNP G C g.chr6:101100758G>C c.2831C>G p.P944R TCGA-W5-AA39-01A-11D-A417-09 ASH1L 1 155447890 155447890 + Missense_Mutation SNP A C g.chr1:155447890A>C c.4771T>G p.F1591V TCGA-W5-AA39-01A-11D-A417-09 ASH2L 8 37996519 37996519 + Missense_Mutation SNP C A g.chr8:37996519C>A c.1817C>A p.T606N TCGA-ZH-A8Y1-01A-11D-A417-09 ASNS 7 97487633 97487633 + Missense_Mutation SNP G T g.chr7:97487633G>T c.860C>A p.A287E TCGA-W6-AA0S-01A-11D-A417-09 ASPHD1 16 29912808 29912808 + Silent SNP C T g.chr16:29912808C>T c.516C>T p.G172G TCGA-4G-AAZT-01A-11D-A417-09 ASPHD2 22 26830408 26830408 + Missense_Mutation SNP C A g.chr22:26830408C>A c.827C>A p.P276H TCGA-W5-AA2O-01A-11D-A417-09 ASPM 1 197071223 197071223 + Missense_Mutation SNP G T g.chr1:197071223G>T c.7158C>A p.H2386Q TCGA-W5-AA2Q-01A-11D-A417-09 ASPM 1 197115508 197115508 + Silent SNP C G g.chr1:197115508C>G c.60G>C p.P20P TCGA-W5-AA2T-01A-12D-A417-09 ASPM 1 197094085 197094085 + Splice_Site SNP C A g.chr1:197094085C>A c.3083G>T p.G1028V TCGA-W5-AA38-01A-11D-A417-09 ASPRV1 2 70188309 70188309 + Missense_Mutation SNP G A g.chr2:70188309G>A c.512C>T p.A171V TCGA-W5-AA39-01A-11D-A417-09 ASXL3 18 31158612 31158612 + Missense_Mutation SNP A G g.chr18:31158612A>G c.17A>G p.K6R TCGA-W5-AA39-01A-11D-A417-09 ATAD2 8 124340548 124340548 + Silent SNP A G g.chr8:124340548A>G c.3750T>C p.N1250N TCGA-ZU-A8S4-01A-11D-A417-09 ATAD2B 2 24103602 24103602 + Missense_Mutation SNP T C g.chr2:24103602T>C c.808A>G p.I270V TCGA-W5-AA39-01A-11D-A417-09 ATAD2B 2 24118774 24118774 + Nonsense_Mutation SNP G A g.chr2:24118774G>A c.283C>T p.Q95* TCGA-W5-AA39-01A-11D-A417-09 ATAD3A 1 1458913 1458913 + Missense_Mutation SNP G A g.chr1:1458913G>A c.1073G>A p.R358Q TCGA-3X-AAVB-01A-31D-A417-09 ATAD3B 1 1431002 1431002 + Silent SNP C A g.chr1:1431002C>A c.1752C>A p.P584P TCGA-4G-AAZO-01A-12D-A417-09 ATAD3B 1 1417592 1417592 + Missense_Mutation SNP G A g.chr1:1417592G>A c.589G>A p.A197T TCGA-W5-AA39-01A-11D-A417-09 ATAD3C 1 1389795 1389795 + Missense_Mutation SNP A T g.chr1:1389795A>T c.293A>T p.Y98F TCGA-W5-AA39-01A-11D-A417-09 ATAD3C 1 1398007 1398007 + Silent SNP C T g.chr1:1398007C>T c.1008C>T p.Y336Y TCGA-W5-AA39-01A-11D-A417-09 ATAD5 17 29220580 29220580 + Nonsense_Mutation SNP T A g.chr17:29220580T>A c.4709T>A p.L1570* TCGA-W5-AA39-01A-11D-A417-09 ATAD5 17 29220847 29220847 + Missense_Mutation SNP T C g.chr17:29220847T>C c.4976T>C p.L1659S TCGA-ZH-A8Y2-01A-11D-A417-09 ATCAY 19 3910859 3910859 + Missense_Mutation SNP G T g.chr19:3910859G>T c.838G>T p.V280L TCGA-W5-AA34-01A-11D-A417-09 ATE1 10 123670610 123670610 + Missense_Mutation SNP T C g.chr10:123670610T>C c.394A>G p.N132D TCGA-W5-AA39-01A-11D-A417-09 ATF4 22 39917554 39917554 + Missense_Mutation SNP A C g.chr22:39917554A>C c.104A>C p.D35A TCGA-W5-AA39-01A-11D-A417-09 ATF5 19 50436094 50436094 + Silent SNP C T g.chr19:50436094C>T c.594C>T p.A198A TCGA-W5-AA39-01A-11D-A417-09 ATF6 1 161816251 161816251 + Silent SNP G A g.chr1:161816251G>A c.1200G>A p.Q400Q TCGA-W5-AA2R-01A-11D-A417-09 ATF6B 6 32086802 32086813 + In_Frame_Del DEL CAGTACTGCTTG - g.chr6:32086802_32086813delCAGTACTGCTTG c.1072_1083delCAAGCAGTACTG p.QAVL358del TCGA-W5-AA39-01A-11D-A417-09 ATF7IP 12 14576921 14576921 + Silent SNP G A g.chr12:14576921G>A c.72G>A p.Q24Q TCGA-3X-AAVC-01A-21D-A417-09 ATG10 5 81549163 81549163 + Missense_Mutation SNP C A g.chr5:81549163C>A c.582C>A p.S194R TCGA-ZH-A8Y2-01A-11D-A417-09 ATG16L1 2 234191392 234191392 + Missense_Mutation SNP G T g.chr2:234191392G>T c.1196G>T p.R399L TCGA-W5-AA2H-01A-31D-A417-09 ATG16L1 2 234189793 234189793 + Missense_Mutation SNP G T g.chr2:234189793G>T c.1103G>T p.G368V TCGA-W5-AA2Q-01A-11D-A417-09 ATG16L1 2 234164841 234164841 + Splice_Site SNP G T g.chr2:234164841G>T c.209G>T p.S70I TCGA-W5-AA2W-01A-11D-A417-09 ATG2A 11 64676552 64676552 + Missense_Mutation SNP G T g.chr11:64676552G>T c.2275C>A p.L759M TCGA-W5-AA2G-01A-11D-A417-09 ATG2A 11 64679638 64679638 + Missense_Mutation SNP G C g.chr11:64679638G>C c.1006C>G p.Q336E TCGA-W5-AA39-01A-11D-A417-09 ATG4D 19 10657598 10657598 + Missense_Mutation SNP C A g.chr19:10657598C>A c.577C>A p.R193S TCGA-W5-AA2R-01A-11D-A417-09 ATM 11 108218091 108218091 + Splice_Site SNP A G g.chr11:108218091A>G c.8670A>G p.L2890L TCGA-W5-AA2I-01A-32D-A417-09 ATM 11 108205808 108205808 + Missense_Mutation SNP A T g.chr11:108205808A>T c.8123A>T p.D2708V TCGA-W5-AA2O-01A-11D-A417-09 ATM 11 108151894 108151894 + Splice_Site SNP A G g.chr11:108151894A>G c.3575A>G p.K1192R TCGA-WD-A7RX-01A-12D-A417-09 ATM 11 108121693 108121693 + Missense_Mutation SNP C A g.chr11:108121693C>A c.1501C>A p.Q501K TCGA-ZH-A8Y2-01A-11D-A417-09 ATM 11 108115752 108115752 + Splice_Site SNP A G g.chr11:108115752A>G c.900A>G p.K300K TCGA-ZU-A8S4-01A-11D-A417-09 ATN1 12 7043191 7043191 + Splice_Site SNP G T g.chr12:7043191G>T c.27G>T p.S9S TCGA-W5-AA2O-01A-11D-A417-09 ATN1 12 7045653 7045653 + Missense_Mutation SNP A C g.chr12:7045653A>C c.1223A>C p.Y408S TCGA-W5-AA33-01A-11D-A417-09 ATN1 12 7045885 7045885 + Silent SNP A G g.chr12:7045885A>G c.1455A>G p.Q485Q TCGA-YR-A95A-01A-12D-A417-09 ATP10B 5 160047807 160047807 + Missense_Mutation SNP C T g.chr5:160047807C>T c.1963G>A p.V655M TCGA-WD-A7RX-01A-12D-A417-09 ATP11A 13 113512205 113512205 + Missense_Mutation SNP G A g.chr13:113512205G>A c.2492G>A p.S831N TCGA-4G-AAZO-01A-12D-A417-09 ATP11A 13 113530136 113530136 + Silent SNP C T g.chr13:113530136C>T c.3208C>T p.L1070L TCGA-W6-AA0S-01A-11D-A417-09 ATP11B 3 182583433 182583433 + Missense_Mutation SNP C A g.chr3:182583433C>A c.1390C>A p.H464N TCGA-4G-AAZO-01A-12D-A417-09 ATP11C 23 138899055 138899055 + Silent SNP A G g.chrX:138899055A>G c.294T>C p.L98L TCGA-W5-AA2G-01A-11D-A417-09 ATP12A 13 25274914 25274914 + Nonsense_Mutation SNP G T g.chr13:25274914G>T c.1735G>T p.E579* TCGA-ZH-A8Y6-01A-11D-A417-09 ATP13A1 19 19765461 19765461 + Silent SNP G A g.chr19:19765461G>A c.1704C>T p.H568H TCGA-W5-AA31-01A-11D-A417-09 ATP13A2 1 17316709 17316709 + Silent SNP G A g.chr1:17316709G>A c.2325C>T p.I775I TCGA-WD-A7RX-01A-12D-A417-09 ATP13A3 3 194167665 194167665 + Silent SNP G A g.chr3:194167665G>A c.1488C>T p.C496C TCGA-4G-AAZT-01A-11D-A417-09 ATP13A3 3 194152559 194152559 + Nonsense_Mutation SNP T A g.chr3:194152559T>A c.2308A>T p.K770* TCGA-W5-AA39-01A-11D-A417-09 ATP13A3 3 194169221 194169221 + Missense_Mutation SNP G A g.chr3:194169221G>A c.1115C>T p.T372I TCGA-W5-AA39-01A-11D-A417-09 ATP13A3 3 194168696 194168696 + Missense_Mutation SNP T C g.chr3:194168696T>C c.1193A>G p.Y398C TCGA-ZH-A8Y5-01A-11D-A417-09 ATP13A5 3 193081945 193081945 + Missense_Mutation SNP C T g.chr3:193081945C>T c.188G>A p.C63Y TCGA-W5-AA2U-01A-11D-A417-09 ATP1A2 1 160097563 160097563 + Missense_Mutation SNP G A g.chr1:160097563G>A c.970G>A p.G324S TCGA-W5-AA2W-01A-11D-A417-09 ATP1A3 19 42489123 42489123 + Missense_Mutation SNP G C g.chr19:42489123G>C c.940C>G p.L314V TCGA-ZH-A8Y1-01A-11D-A417-09 ATP2A3 17 3832041 3832041 + Missense_Mutation SNP G T g.chr17:3832041G>T c.2896C>A p.Q966K TCGA-ZH-A8Y8-01A-51D-A417-09 ATP2B1 12 90028837 90028837 + Missense_Mutation SNP C T g.chr12:90028837C>T c.598G>A p.G200S TCGA-ZD-A8I3-01A-11D-A417-09 ATP5G2 12 54063070 54063070 + Missense_Mutation SNP C T g.chr12:54063070C>T c.173G>A p.S58N TCGA-YR-A95A-01A-12D-A417-09 ATP5O 21 35276306 35276306 + Missense_Mutation SNP A T g.chr21:35276306A>T c.461T>A p.L154H TCGA-3X-AAVA-01A-11D-A417-09 ATP5S 14 50789296 50789296 + Missense_Mutation SNP G T g.chr14:50789296G>T c.220G>T p.G74W TCGA-W5-AA39-01A-11D-A417-09 ATP6V0D2 8 87162459 87162459 + Missense_Mutation SNP G T g.chr8:87162459G>T c.758G>T p.R253L TCGA-WD-A7RX-01A-12D-A417-09 ATP6V1G1 9 117359886 117359886 + Missense_Mutation SNP G A g.chr9:117359886G>A c.220G>A p.E74K TCGA-W5-AA39-01A-11D-A417-09 ATP7B 13 52549277 52549277 + Missense_Mutation SNP G T g.chr13:52549277G>T c.79C>A p.R27S TCGA-W5-AA2I-01A-32D-A417-09 ATP7B 13 52539138 52539138 + Missense_Mutation SNP T A g.chr13:52539138T>A c.1739A>T p.H580L TCGA-W5-AA39-01A-11D-A417-09 ATP8B1 18 55336582 55336582 + Nonsense_Mutation SNP T A g.chr18:55336582T>A c.2065A>T p.K689* TCGA-W5-AA39-01A-11D-A417-09 ATP8B3 19 1783099 1783099 + Missense_Mutation SNP G T g.chr19:1783099G>T c.3831C>A p.S1277R TCGA-3X-AAVA-01A-11D-A417-09 ATP8B3 19 1811727 1811727 + Silent SNP A T g.chr19:1811727A>T c.9T>A p.T3T TCGA-W5-AA39-01A-11D-A417-09 ATP9A 20 50290700 50290700 + Silent SNP G A g.chr20:50290700G>A c.1029C>T p.I343I TCGA-W5-AA31-01A-11D-A417-09 ATP9B 18 76903819 76903819 + Missense_Mutation SNP A T g.chr18:76903819A>T c.685A>T p.S229C TCGA-W5-AA39-01A-11D-A417-09 ATR 3 142168326 142168326 + Missense_Mutation SNP G A g.chr3:142168326G>A c.7880C>T p.A2627V TCGA-W5-AA2Q-01A-11D-A417-09 ATXN10 22 46125305 46125305 + Splice_Site SNP A G g.chr22:46125305A>G c.729A>G p.R243R TCGA-W5-AA39-01A-11D-A417-09 ATXN10 22 46125307 46125307 + Missense_Mutation SNP T G g.chr22:46125307T>G c.731T>G p.V244G TCGA-W5-AA39-01A-11D-A417-09 AURKA 20 54963211 54963211 + Splice_Site SNP C G g.chr20:54963211C>G TCGA-ZU-A8S4-01A-11D-A417-09 AURKC 19 57744038 57744038 + Missense_Mutation SNP G T g.chr19:57744038G>T c.425G>T p.R142L TCGA-WD-A7RX-01A-12D-A417-09 AVEN 15 34295319 34295319 + Missense_Mutation SNP C T g.chr15:34295319C>T c.359G>A p.R120Q TCGA-W5-AA2R-01A-11D-A417-09 AVIL 12 58201157 58201157 + Missense_Mutation SNP C T g.chr12:58201157C>T c.1448G>A p.R483H TCGA-W5-AA31-01A-11D-A417-09 AXIN2 17 63526145 63526145 + Silent SNP C A g.chr17:63526145C>A c.2286G>T p.V762V TCGA-W5-AA39-01A-11D-A417-09 B2M 15 45007705 45007705 + Missense_Mutation SNP A C g.chr15:45007705A>C c.152A>C p.H51P TCGA-W5-AA39-01A-11D-A417-09 B3GNT1 11 66114615 66114615 + Silent SNP C A g.chr11:66114615C>A c.402G>T p.L134L TCGA-W5-AA39-01A-11D-A417-09 B3GNT2 2 62449365 62449365 + Missense_Mutation SNP G C g.chr2:62449365G>C c.10G>C p.G4R TCGA-3X-AAVC-01A-21D-A417-09 B3GNT6 11 76751604 76751604 + Splice_Site SNP T C g.chr11:76751604T>C c.1006T>C p.L336L TCGA-3X-AAVA-01A-11D-A417-09 B3GNT6 11 76751719 76751719 + Missense_Mutation SNP C T g.chr11:76751719C>T c.1124C>T p.A375V TCGA-ZH-A8Y4-01A-11D-A417-09 B4GALNT3 12 665927 665927 + Missense_Mutation SNP A G g.chr12:665927A>G c.2275A>G p.N759D TCGA-W5-AA30-01A-31D-A417-09 B4GALT5 20 48256337 48256337 + Splice_Site SNP C T g.chr20:48256337C>T c.795G>A p.L265L TCGA-W5-AA2W-01A-11D-A417-09 B4GALT7 5 177035587 177035587 + Silent SNP C T g.chr5:177035587C>T c.687C>T p.D229D TCGA-WD-A7RX-01A-12D-A417-09 B9D1 17 19251158 19251158 + Missense_Mutation SNP C A g.chr17:19251158C>A c.280G>T p.V94L TCGA-YR-A95A-01A-12D-A417-09 BACE1 11 117186290 117186290 + Silent SNP G T g.chr11:117186290G>T c.222C>A p.G74G TCGA-3X-AAVB-01A-31D-A417-09 BAD 11 64051695 64051695 + Missense_Mutation SNP C T g.chr11:64051695C>T c.146G>A p.S49N TCGA-W5-AA2W-01A-11D-A417-09 BAGE2 21 11049582 11049582 + RNA SNP C T g.chr21:11049582C>T TCGA-W6-AA0S-01A-11D-A417-09 BAI1 8 143570419 143570419 + Missense_Mutation SNP G T g.chr8:143570419G>T c.2476G>T p.V826L TCGA-3X-AAVE-01A-11D-A417-09 BAI1 8 143558848 143558848 + Missense_Mutation SNP G T g.chr8:143558848G>T c.1325G>T p.G442V TCGA-W5-AA30-01A-31D-A417-09 BAI1 8 143599537 143599537 + Silent SNP C T g.chr8:143599537C>T c.2856C>T p.I952I TCGA-YR-A95A-01A-12D-A417-09 BAI3 6 69665993 69665993 + Missense_Mutation SNP C T g.chr6:69665993C>T c.1273C>T p.R425W TCGA-ZH-A8Y2-01A-11D-A417-09 BAIAP2 17 79090074 79090074 + Missense_Mutation SNP A G g.chr17:79090074A>G c.1628A>G p.D543G TCGA-W5-AA2X-01A-11D-A417-09 BAIAP2L2 22 38504287 38504287 + Silent SNP C T g.chr22:38504287C>T c.189G>A p.L63L TCGA-W5-AA2H-01A-31D-A417-09 BAIAP3 16 1393405 1393430 + Frame_Shift_Del DEL TCAGCAGCCGCCACCATCAAACCTGC - g.chr16:1393405_1393430delTCAGCAGCCGCCACCATCAAACCTGC c.1382_1407delTCAGCAGCCGCCACCATCAAACCTGC p.VSSRHHQTC461fs TCGA-W5-AA39-01A-11D-A417-09 BAIAP3 16 1393409 1393430 + Frame_Shift_Del DEL CAGCCGCCACCATCAAACCTGC - g.chr16:1393409_1393430delCAGCCGCCACCATCAAACCTGC c.1386_1407delCAGCCGCCACCATCAAACCTGC p.SSRHHQTC462fs TCGA-W5-AA39-01A-11D-A417-09 BANK1 4 102816512 102816512 + Missense_Mutation SNP G T g.chr4:102816512G>T c.954G>T p.E318D TCGA-W5-AA2I-01A-32D-A417-09 BAP1 3 52436651 52436667 + Frame_Shift_Del DEL TGAACTCATCGTAGTTG - g.chr3:52436651_52436667delTGAACTCATCGTAGTTG c.2007_2023delCAACTACGATGAGTTCA p.NYDEFI670fs TCGA-3X-AAVE-01A-11D-A417-09 BAP1 3 52437802 52437802 + Frame_Shift_Del DEL T - g.chr3:52437802delT c.1359delA p.K453fs TCGA-4G-AAZO-01A-12D-A417-09 BAP1 3 52437805 52437805 + Silent SNP G A g.chr3:52437805G>A c.1356C>T p.L452L TCGA-4G-AAZO-01A-12D-A417-09 BAP1 3 52439916 52439916 + Missense_Mutation SNP T G g.chr3:52439916T>G c.796A>C p.T266P TCGA-4G-AAZT-01A-11D-A417-09 BAP1 3 52439930 52439930 + Splice_Site SNP T C g.chr3:52439930T>C TCGA-4G-AAZT-01A-11D-A417-09 BAP1 3 52440307 52440307 + Nonsense_Mutation SNP T A g.chr3:52440307T>A c.745A>T p.K249* TCGA-W5-AA2W-01A-11D-A417-09 BAP1 3 52440916 52440916 + Nonsense_Mutation SNP C T g.chr3:52440916C>T c.588G>A p.W196* TCGA-W5-AA31-01A-11D-A417-09 BAP1 3 52441997 52441997 + 5'Flank SNP A C g.chr3:52441997A>C TCGA-W5-AA39-01A-11D-A417-09 BAP1 3 52442599 52442599 + 5'Flank SNP A G g.chr3:52442599A>G TCGA-ZH-A8Y2-01A-11D-A417-09 BAP1 3 52437221 52437221 + Frame_Shift_Del DEL T - g.chr3:52437221delT c.1823delA p.D608fs TCGA-ZH-A8Y4-01A-11D-A417-09 BARHL2 1 91182194 91182194 + Missense_Mutation SNP C G g.chr1:91182194C>G c.559G>C p.E187Q TCGA-W5-AA39-01A-11D-A417-09 BAT2 6 31604380 31604380 + Missense_Mutation SNP C A g.chr6:31604380C>A c.5929C>A p.Q1977K TCGA-W5-AA2Q-01A-11D-A417-09 BAT2L2 1 171535854 171535854 + Missense_Mutation SNP C A g.chr1:171535854C>A c.6424C>A p.P2142T TCGA-W5-AA2G-01A-11D-A417-09 BBS12 4 123663872 123663872 + Missense_Mutation SNP G T g.chr4:123663872G>T c.825G>T p.L275F TCGA-ZH-A8Y2-01A-11D-A417-09 BBS2 16 56535283 56535283 + Missense_Mutation SNP G A g.chr16:56535283G>A c.1207C>T p.R403C TCGA-4G-AAZT-01A-11D-A417-09 BBS7 4 122775917 122775917 + Missense_Mutation SNP C G g.chr4:122775917C>G c.660G>C p.Q220H TCGA-ZU-A8S4-01A-11D-A417-09 BBX 3 107435575 107435575 + Missense_Mutation SNP G T g.chr3:107435575G>T c.284G>T p.R95L TCGA-W5-AA2O-01A-11D-A417-09 BCAM 19 45315768 45315768 + Missense_Mutation SNP A C g.chr19:45315768A>C c.467A>C p.K156T TCGA-W5-AA2R-01A-11D-A417-09 BCAN 1 156622711 156622711 + Intron SNP C G g.chr1:156622711C>G TCGA-W5-AA2U-01A-11D-A417-09 BCAN 1 156616887 156616887 + Missense_Mutation SNP C G g.chr1:156616887C>G c.386C>G p.P129R TCGA-W5-AA30-01A-31D-A417-09 BCAN 1 156622046 156622046 + Missense_Mutation SNP A G g.chr1:156622046A>G c.1304A>G p.E435G TCGA-W5-AA39-01A-11D-A417-09 BCAP29 7 107258885 107258885 + 3'UTR SNP C A g.chr7:107258885C>A TCGA-W5-AA39-01A-11D-A417-09 BCAS3 17 59112151 59112151 + Splice_Site SNP G T g.chr17:59112151G>T c.1807G>T p.D603Y TCGA-W5-AA31-01A-11D-A417-09 BCHE 3 165547680 165547680 + Frame_Shift_Del DEL C - g.chr3:165547680delC c.1142delG p.G381fs TCGA-W5-AA38-01A-11D-A417-09 BCL3 19 45262071 45262071 + Nonsense_Mutation SNP G T g.chr19:45262071G>T c.1150G>T p.E384* TCGA-W5-AA2U-01A-11D-A417-09 BCL3 19 45254588 45254588 + Missense_Mutation SNP C T g.chr19:45254588C>T c.361C>T p.L121F TCGA-W5-AA39-01A-11D-A417-09 BCL6B 17 6928019 6928019 + Missense_Mutation SNP C G g.chr17:6928019C>G c.701C>G p.S234C TCGA-W5-AA2R-01A-11D-A417-09 BCL6B 17 6928019 6928019 + Missense_Mutation SNP C G g.chr17:6928019C>G c.701C>G p.S234C TCGA-W5-AA34-01A-11D-A417-09 BCL7C 16 30904573 30904573 + Missense_Mutation SNP C T g.chr16:30904573C>T c.131G>A p.R44H TCGA-WD-A7RX-01A-12D-A417-09 BCL9 1 147096004 147096004 + Silent SNP C T g.chr1:147096004C>T c.3525C>T p.G1175G TCGA-W5-AA2Q-01A-11D-A417-09 BCL9 1 147084715 147084715 + Silent SNP T C g.chr1:147084715T>C c.87T>C p.R29R TCGA-W5-AA34-01A-11D-A417-09 BCLAF1 6 136597516 136597516 + Missense_Mutation SNP A G g.chr6:136597516A>G c.1147T>C p.Y383H TCGA-W5-AA39-01A-11D-A417-09 BCO2 11 112071442 112071442 + Missense_Mutation SNP C A g.chr11:112071442C>A c.972C>A p.S324R TCGA-3X-AAVC-01A-21D-A417-09 BCO2 11 112065435 112065435 + Silent SNP G T g.chr11:112065435G>T c.693G>T p.L231L TCGA-W5-AA39-01A-11D-A417-09 BCO2 11 112070469 112070469 + Missense_Mutation SNP G A g.chr11:112070469G>A c.784G>A p.G262R TCGA-W6-AA0S-01A-11D-A417-09 BCOR 23 39933623 39933623 + Missense_Mutation SNP G T g.chrX:39933623G>T c.976C>A p.P326T TCGA-3X-AAV9-01A-72D-A417-09 BCOR 23 39933623 39933623 + Missense_Mutation SNP G T g.chrX:39933623G>T c.976C>A p.P326T TCGA-W5-AA2U-01A-11D-A417-09 BCOR 23 39921601 39921601 + Missense_Mutation SNP A G g.chrX:39921601A>G c.4219T>C p.Y1407H TCGA-W5-AA39-01A-11D-A417-09 BDP1 5 70754623 70754623 + Silent SNP C A g.chr5:70754623C>A c.430C>A p.R144R TCGA-4G-AAZO-01A-12D-A417-09 BEND7 10 13541852 13541852 + Missense_Mutation SNP C G g.chr10:13541852C>G c.374G>C p.G125A TCGA-3X-AAVC-01A-21D-A417-09 BEST2 19 12865559 12865559 + Silent SNP G C g.chr19:12865559G>C c.441G>C p.V147V TCGA-ZH-A8Y1-01A-11D-A417-09 BEST3 12 70091527 70091527 + Missense_Mutation SNP G T g.chr12:70091527G>T c.52C>A p.H18N TCGA-W5-AA38-01A-11D-A417-09 BFSP1 20 17475396 17475396 + Missense_Mutation SNP A C g.chr20:17475396A>C c.1321T>G p.F441V TCGA-W5-AA39-01A-11D-A417-09 BGN 23 152771327 152771327 + Missense_Mutation SNP G T g.chrX:152771327G>T c.358G>T p.V120F TCGA-3X-AAV9-01A-72D-A417-09 BHMT2 5 78376673 78376673 + Missense_Mutation SNP G T g.chr5:78376673G>T c.422G>T p.W141L TCGA-ZH-A8Y2-01A-11D-A417-09 BICD1 12 32481467 32481467 + Missense_Mutation SNP C T g.chr12:32481467C>T c.2078C>T p.A693V TCGA-W5-AA2T-01A-12D-A417-09 BICD1 12 32480599 32480599 + Missense_Mutation SNP C T g.chr12:32480599C>T c.1210C>T p.H404Y TCGA-W5-AA2Z-01A-11D-A417-09 BIN1 2 127811543 127811543 + Missense_Mutation SNP G T g.chr2:127811543G>T c.1177C>A p.L393M TCGA-3X-AAVC-01A-21D-A417-09 BIN1 2 127821523 127821523 + Silent SNP C T g.chr2:127821523C>T c.684G>A p.P228P TCGA-ZH-A8Y1-01A-11D-A417-09 BIRC2 11 102221620 102221620 + Missense_Mutation SNP G C g.chr11:102221620G>C c.941G>C p.R314T TCGA-3X-AAVE-01A-11D-A417-09 BIRC2 11 102221671 102221671 + Missense_Mutation SNP C A g.chr11:102221671C>A c.992C>A p.P331Q TCGA-W5-AA30-01A-31D-A417-09 BIRC3 11 102198793 102198793 + Missense_Mutation SNP T G g.chr11:102198793T>G c.964T>G p.L322V TCGA-W5-AA39-01A-11D-A417-09 BIRC6 2 32724972 32724972 + Missense_Mutation SNP A G g.chr2:32724972A>G c.8827A>G p.R2943G TCGA-4G-AAZO-01A-12D-A417-09 BIRC6 2 32631613 32631613 + Missense_Mutation SNP G T g.chr2:32631613G>T c.1465G>T p.D489Y TCGA-W5-AA2U-01A-11D-A417-09 BIRC6 2 32667184 32667184 + Silent SNP T C g.chr2:32667184T>C c.3996T>C p.V1332V TCGA-W5-AA39-01A-11D-A417-09 BIRC6 2 32678936 32678936 + Missense_Mutation SNP T G g.chr2:32678936T>G c.4679T>G p.L1560R TCGA-W5-AA39-01A-11D-A417-09 BIRC6 2 32725169 32725169 + Missense_Mutation SNP G T g.chr2:32725169G>T c.9024G>T p.M3008I TCGA-YR-A95A-01A-12D-A417-09 BIRC6 2 32613960 32613960 + Missense_Mutation SNP T C g.chr2:32613960T>C c.788T>C p.L263S TCGA-ZH-A8Y1-01A-11D-A417-09 BIRC6 2 32774511 32774511 + Silent SNP C T g.chr2:32774511C>T c.13107C>T p.L4369L TCGA-ZH-A8Y8-01A-51D-A417-09 BIRC7 20 61870741 61870741 + Silent SNP G T g.chr20:61870741G>T c.681G>T p.A227A TCGA-W5-AA2Q-01A-11D-A417-09 BLK 8 11412317 11412317 + Missense_Mutation SNP C T g.chr8:11412317C>T c.538C>T p.R180C TCGA-W5-AA2I-01A-32D-A417-09 BLK 8 11415529 11415529 + Silent SNP G T g.chr8:11415529G>T c.1011G>T p.L337L TCGA-W5-AA2U-01A-11D-A417-09 BLM 15 91310162 91310162 + Missense_Mutation SNP G T g.chr15:91310162G>T c.2216G>T p.G739V TCGA-W5-AA2W-01A-11D-A417-09 BLOC1S3 19 45683097 45683097 + Silent SNP C A g.chr19:45683097C>A c.543C>A p.R181R TCGA-W5-AA39-01A-11D-A417-09 BMP15 23 50659359 50659359 + Missense_Mutation SNP G T g.chrX:50659359G>T c.931G>T p.A311S TCGA-YR-A95A-01A-12D-A417-09 BMP2 20 6759625 6759625 + Silent SNP C T g.chr20:6759625C>T c.1080C>T p.C360C TCGA-W5-AA31-01A-11D-A417-09 BMP2K 4 79832212 79832212 + Silent SNP C A g.chr4:79832212C>A c.2511C>A p.L837L TCGA-4G-AAZO-01A-12D-A417-09 BMP4 14 54418732 54418732 + Missense_Mutation SNP C G g.chr14:54418732C>G c.209G>C p.R70P TCGA-W5-AA39-01A-11D-A417-09 BMP5 6 55638874 55638874 + Missense_Mutation SNP C A g.chr6:55638874C>A c.1000G>T p.D334Y TCGA-W5-AA39-01A-11D-A417-09 BMP6 6 7880449 7880449 + Missense_Mutation SNP A G g.chr6:7880449A>G c.1415A>G p.Y472C TCGA-W5-AA39-01A-11D-A417-09 BMP7 20 55777538 55777538 + Silent SNP C T g.chr20:55777538C>T c.753G>A p.T251T TCGA-3X-AAVE-01A-11D-A417-09 BMPR2 2 203383553 203383553 + Silent SNP C T g.chr2:203383553C>T c.630C>T p.G210G TCGA-W5-AA2U-01A-11D-A417-09 BNC1 15 83935682 83935682 + Missense_Mutation SNP C T g.chr15:83935682C>T c.341G>A p.R114Q TCGA-3X-AAVC-01A-21D-A417-09 BNC2 9 16419547 16419547 + Missense_Mutation SNP C T g.chr9:16419547C>T c.2740G>A p.D914N TCGA-W5-AA2T-01A-12D-A417-09 BOC 3 113002290 113002290 + Missense_Mutation SNP C T g.chr3:113002290C>T c.2464C>T p.P822S TCGA-W5-AA33-01A-11D-A417-09 BOD1L 4 13602293 13602293 + Silent SNP G T g.chr4:13602293G>T c.6231C>A p.T2077T TCGA-ZD-A8I3-01A-11D-A417-09 BPHL 6 3127475 3127475 + Splice_Site SNP G T g.chr6:3127475G>T TCGA-W5-AA38-01A-11D-A417-09 BRAF 7 140453136 140453136 + Missense_Mutation SNP A T g.chr7:140453136A>T c.1799T>A p.V600E TCGA-ZU-A8S4-01A-11D-A417-09 BRCA1 17 41219699 41219699 + Missense_Mutation SNP T G g.chr17:41219699T>G c.5000A>C p.K1667T TCGA-W5-AA2G-01A-11D-A417-09 BRCA2 13 32914379 32914379 + Missense_Mutation SNP G T g.chr13:32914379G>T c.5887G>T p.G1963W TCGA-3X-AAVC-01A-21D-A417-09 BRCA2 13 32971139 32971139 + Silent SNP G A g.chr13:32971139G>A c.9606G>A p.P3202P TCGA-W5-AA2Q-01A-11D-A417-09 BRCA2 13 32913032 32913032 + Missense_Mutation SNP G C g.chr13:32913032G>C c.4540G>C p.E1514Q TCGA-W5-AA30-01A-31D-A417-09 BRCA2 13 32913479 32913479 + Missense_Mutation SNP G A g.chr13:32913479G>A c.4987G>A p.V1663I TCGA-ZU-A8S4-01A-11D-A417-09 BRD1 22 50197977 50197977 + Missense_Mutation SNP G T g.chr22:50197977G>T c.1399C>A p.Q467K TCGA-W5-AA2Q-01A-11D-A417-09 BRD2 6 32945701 32945701 + Missense_Mutation SNP G T g.chr6:32945701G>T c.1497G>T p.E499D TCGA-W5-AA31-01A-11D-A417-09 BRD2 6 32945611 32945612 + Frame_Shift_Ins INS - C g.chr6:32945611_32945612insC c.1407_1408insC p.P470fs TCGA-W6-AA0S-01A-11D-A417-09 BRD7 16 50368662 50368662 + Nonsense_Mutation SNP C A g.chr16:50368662C>A c.847G>T p.E283* TCGA-W5-AA2Z-01A-11D-A417-09 BRD9 5 864589 864589 + Silent SNP C T g.chr5:864589C>T c.1788G>A p.K596K TCGA-3X-AAVC-01A-21D-A417-09 BRD9 5 891803 891805 + In_Frame_Del DEL CTT - g.chr5:891803_891805delCTT c.217_219delAAG p.K73del TCGA-3X-AAVC-01A-21D-A417-09 BRDT 1 92428423 92428423 + Missense_Mutation SNP G C g.chr1:92428423G>C c.112G>C p.V38L TCGA-ZH-A8Y8-01A-51D-A417-09 BRIX1 5 34915888 34915888 + De_novo_Start_OutOfFrame SNP G T g.chr5:34915888G>T TCGA-W5-AA2X-01A-11D-A417-09 BRPF1 3 9785550 9785550 + Missense_Mutation SNP C T g.chr3:9785550C>T c.2582C>T p.A861V TCGA-ZH-A8Y6-01A-11D-A417-09 BRSK1 19 55817627 55817627 + Missense_Mutation SNP G T g.chr19:55817627G>T c.1898G>T p.S633I TCGA-W5-AA2U-01A-11D-A417-09 BRWD1 21 40668258 40668258 + Silent SNP G T g.chr21:40668258G>T c.381C>A p.A127A TCGA-W5-AA2R-01A-11D-A417-09 BRWD1 21 40665822 40665822 + Missense_Mutation SNP T C g.chr21:40665822T>C c.746A>G p.D249G TCGA-W5-AA39-01A-11D-A417-09 BRWD3 23 79946606 79946606 + Missense_Mutation SNP G T g.chrX:79946606G>T c.3548C>A p.A1183D TCGA-W5-AA2G-01A-11D-A417-09 BRWD3 23 79941034 79941034 + Splice_Site SNP C G g.chrX:79941034C>G c.4007G>C p.G1336A TCGA-W5-AA31-01A-11D-A417-09 BSCL2 11 62460156 62460156 + Silent SNP G A g.chr11:62460156G>A c.552C>T p.Y184Y TCGA-W5-AA39-01A-11D-A417-09 BST2 19 17515240 17515240 + Missense_Mutation SNP G T g.chr19:17515240G>T c.292C>A p.L98I TCGA-WD-A7RX-01A-12D-A417-09 BTBD12 16 3640840 3640840 + Silent SNP G T g.chr16:3640840G>T c.2799C>A p.G933G TCGA-W5-AA2Z-01A-11D-A417-09 BTBD12 16 3656611 3656611 + Missense_Mutation SNP C A g.chr16:3656611C>A c.624G>T p.L208F TCGA-W5-AA39-01A-11D-A417-09 BTBD16 10 124036305 124036305 + Splice_Site SNP G A g.chr10:124036305G>A TCGA-W5-AA2Q-01A-11D-A417-09 BTBD8 1 92573559 92573559 + Splice_Site SNP G T g.chr1:92573559G>T TCGA-W5-AA39-01A-11D-A417-09 BTG3 21 18966436 18966436 + Missense_Mutation SNP T G g.chr21:18966436T>G c.734A>C p.N245T TCGA-W5-AA39-01A-11D-A417-09 BTN2A2 6 26393052 26393052 + Missense_Mutation SNP A T g.chr6:26393052A>T c.1429A>T p.T477S TCGA-3X-AAVE-01A-11D-A417-09 BTN2A2 6 26393054 26393054 + Silent SNP T C g.chr6:26393054T>C c.1431T>C p.T477T TCGA-3X-AAVE-01A-11D-A417-09 BTN3A1 6 26411341 26411341 + Silent SNP A G g.chr6:26411341A>G c.969A>G p.G323G TCGA-3X-AAV9-01A-72D-A417-09 BTN3A1 6 26408115 26408115 + Missense_Mutation SNP G A g.chr6:26408115G>A c.650G>A p.G217D TCGA-W5-AA2Z-01A-11D-A417-09 BTNL9 5 180477173 180477173 + Silent SNP C G g.chr5:180477173C>G c.540C>G p.P180P TCGA-W5-AA39-01A-11D-A417-09 BTNL9 5 180480244 180480244 + Missense_Mutation SNP G C g.chr5:180480244G>C c.781G>C p.A261P TCGA-W5-AA39-01A-11D-A417-09 BTRC 10 103294590 103294590 + Nonsense_Mutation SNP G T g.chr10:103294590G>T c.1270G>T p.G424* TCGA-4G-AAZO-01A-12D-A417-09 BTRC 10 103281468 103281468 + Missense_Mutation SNP G A g.chr10:103281468G>A c.397G>A p.E133K TCGA-ZH-A8Y1-01A-11D-A417-09 C10orf116 10 88730012 88730012 + Silent SNP G A g.chr10:88730012G>A c.117G>A p.G39G TCGA-ZH-A8Y2-01A-11D-A417-09 C10orf128 10 50396360 50396360 + Silent SNP G A g.chr10:50396360G>A c.22C>T p.L8L TCGA-ZH-A8Y2-01A-11D-A417-09 C10orf137 10 127429150 127429150 + Silent SNP C A g.chr10:127429150C>A c.2100C>A p.S700S TCGA-4G-AAZO-01A-12D-A417-09 C10orf140 10 21805461 21805461 + Missense_Mutation SNP T C g.chr10:21805461T>C c.1291A>G p.S431G TCGA-W5-AA39-01A-11D-A417-09 C10orf140 10 21805720 21805720 + Silent SNP A G g.chr10:21805720A>G c.1032T>C p.H344H TCGA-ZH-A8Y2-01A-11D-A417-09 C10orf18 10 5803315 5803315 + Missense_Mutation SNP T C g.chr10:5803315T>C c.7055T>C p.I2352T TCGA-W5-AA39-01A-11D-A417-09 C10orf27 10 72541754 72541754 + Missense_Mutation SNP C T g.chr10:72541754C>T c.80G>A p.R27H TCGA-ZD-A8I3-01A-11D-A417-09 C10orf28 10 99968068 99968068 + Missense_Mutation SNP C A g.chr10:99968068C>A c.197C>A p.P66Q TCGA-W5-AA2I-01A-32D-A417-09 C10orf46 10 120450823 120450823 + Missense_Mutation SNP G T g.chr10:120450823G>T c.979C>A p.Q327K TCGA-4G-AAZO-01A-12D-A417-09 C10orf62 10 99350107 99350107 + Silent SNP T C g.chr10:99350107T>C c.453T>C p.A151A TCGA-W5-AA39-01A-11D-A417-09 C10orf71 10 50530860 50530860 + Silent SNP G T g.chr10:50530860G>T c.270G>T p.T90T TCGA-4G-AAZO-01A-12D-A417-09 C11orf2 11 64875830 64875830 + Missense_Mutation SNP C T g.chr11:64875830C>T c.887C>T p.P296L TCGA-W5-AA2R-01A-11D-A417-09 C11orf31 11 57509283 57509283 + IGR SNP C G g.chr11:57509283C>G TCGA-W5-AA39-01A-11D-A417-09 C11orf41 11 33689544 33689544 + Silent SNP G A g.chr11:33689544G>A c.5394G>A p.A1798A TCGA-W5-AA2H-01A-31D-A417-09 C11orf41 11 33589742 33589742 + Missense_Mutation SNP G T g.chr11:33589742G>T c.3308G>T p.R1103L TCGA-W5-AA2Q-01A-11D-A417-09 C11orf52 11 111796803 111796803 + Nonsense_Mutation SNP C A g.chr11:111796803C>A c.252C>A p.C84* TCGA-W5-AA33-01A-11D-A417-09 C11orf52 11 111796729 111796729 + Missense_Mutation SNP C A g.chr11:111796729C>A c.178C>A p.Q60K TCGA-W5-AA39-01A-11D-A417-09 C11orf88 11 111385536 111385536 + Silent SNP T A g.chr11:111385536T>A c.27T>A p.P9P TCGA-W5-AA39-01A-11D-A417-09 C12orf10 12 53700882 53700882 + Silent SNP C T g.chr12:53700882C>T c.1080C>T p.S360S TCGA-3X-AAVC-01A-21D-A417-09 C12orf5 12 4458991 4458991 + Missense_Mutation SNP C T g.chr12:4458991C>T c.199C>T p.H67Y TCGA-ZH-A8Y5-01A-11D-A417-09 C12orf51 12 112605160 112605160 + Silent SNP C A g.chr12:112605160C>A c.11229G>T p.A3743A TCGA-3X-AAVC-01A-21D-A417-09 C12orf64 12 80626733 80626733 + Missense_Mutation SNP G T g.chr12:80626733G>T c.646G>T p.V216L TCGA-ZH-A8Y4-01A-11D-A417-09 C14orf101 14 57046731 57046731 + Silent SNP C T g.chr14:57046731C>T c.99C>T p.F33F TCGA-3X-AAVC-01A-21D-A417-09 C14orf101 14 57114069 57114069 + Missense_Mutation SNP C A g.chr14:57114069C>A c.1978C>A p.P660T TCGA-W5-AA31-01A-11D-A417-09 C14orf104 14 50092315 50092315 + Missense_Mutation SNP T G g.chr14:50092315T>G c.2459A>C p.H820P TCGA-W5-AA33-01A-11D-A417-09 C14orf159 14 91666203 91666203 + Silent SNP C T g.chr14:91666203C>T c.1383C>T p.D461D TCGA-ZH-A8Y4-01A-11D-A417-09 C14orf178 14 78236011 78236011 + Missense_Mutation SNP C T g.chr14:78236011C>T c.359C>T p.A120V TCGA-WD-A7RX-01A-12D-A417-09 C14orf37 14 58604812 58604812 + Missense_Mutation SNP G A g.chr14:58604812G>A c.1265C>T p.T422M TCGA-W5-AA2R-01A-11D-A417-09 C14orf4 14 77493648 77493650 + In_Frame_Del DEL GCG - g.chr14:77493648_77493650delGCG c.486_488delCGC p.162_163AA>A TCGA-4G-AAZT-01A-11D-A417-09 C14orf43 14 74205859 74205859 + Missense_Mutation SNP G T g.chr14:74205859G>T c.853C>A p.P285T TCGA-W5-AA2W-01A-11D-A417-09 C14orf43 14 74189546 74189546 + Missense_Mutation SNP T G g.chr14:74189546T>G c.2579A>C p.Q860P TCGA-W5-AA39-01A-11D-A417-09 C15orf2 15 24924482 24924482 + Silent SNP G A g.chr15:24924482G>A c.3468G>A p.P1156P TCGA-ZH-A8Y1-01A-11D-A417-09 C15orf42 15 90138623 90138623 + Splice_Site SNP G T g.chr15:90138623G>T TCGA-ZH-A8Y8-01A-51D-A417-09 C15orf44 15 65877170 65877170 + Missense_Mutation SNP G T g.chr15:65877170G>T c.1177C>A p.P393T TCGA-W5-AA2X-01A-11D-A417-09 C15orf52 15 40628778 40628778 + Missense_Mutation SNP C T g.chr15:40628778C>T c.1016G>A p.R339Q TCGA-W5-AA39-01A-11D-A417-09 C15orf54 15 39544794 39544794 + Missense_Mutation SNP C T g.chr15:39544794C>T c.458C>T p.A153V TCGA-3X-AAVA-01A-11D-A417-09 C16orf45 16 15675170 15675170 + Missense_Mutation SNP C T g.chr16:15675170C>T c.401C>T p.A134V TCGA-3X-AAVC-01A-21D-A417-09 C16orf59 16 2510831 2510831 + Missense_Mutation SNP C G g.chr16:2510831C>G c.211C>G p.P71A TCGA-W5-AA2Z-01A-11D-A417-09 C16orf71 16 4796983 4796983 + Silent SNP C T g.chr16:4796983C>T c.1237C>T p.L413L TCGA-WD-A7RX-01A-12D-A417-09 C16orf78 16 49412407 49412407 + Silent SNP C T g.chr16:49412407C>T c.297C>T p.D99D TCGA-W5-AA34-01A-11D-A417-09 C16orf86 16 67702138 67702138 + Missense_Mutation SNP G A g.chr16:67702138G>A c.589G>A p.V197I TCGA-3X-AAVE-01A-11D-A417-09 C16orf86 16 67702300 67702300 + Missense_Mutation SNP C T g.chr16:67702300C>T c.751C>T p.P251S TCGA-W5-AA2Q-01A-11D-A417-09 C16orf93 16 30770351 30770351 + Missense_Mutation SNP G T g.chr16:30770351G>T c.799C>A p.P267T TCGA-W5-AA39-01A-11D-A417-09 C17orf28 17 72950350 72950350 + Missense_Mutation SNP G A g.chr17:72950350G>A c.1747C>T p.R583W TCGA-4G-AAZT-01A-11D-A417-09 C17orf53 17 42232260 42232260 + Missense_Mutation SNP C T g.chr17:42232260C>T c.1601C>T p.T534M TCGA-W5-AA2R-01A-11D-A417-09 C17orf57 17 45412686 45412686 + Missense_Mutation SNP C T g.chr17:45412686C>T c.155C>T p.P52L TCGA-W5-AA2R-01A-11D-A417-09 C17orf61 17 7307394 7307394 + Missense_Mutation SNP G T g.chr17:7307394G>T c.10C>A p.P4T TCGA-W5-AA2X-01A-11D-A417-09 C17orf68 17 8140773 8140773 + Nonsense_Mutation SNP T A g.chr17:8140773T>A c.712A>T p.K238* TCGA-W5-AA39-01A-11D-A417-09 C17orf68 17 8140835 8140835 + Missense_Mutation SNP T A g.chr17:8140835T>A c.650A>T p.N217I TCGA-W5-AA39-01A-11D-A417-09 C17orf70 17 79514062 79514062 + Silent SNP A C g.chr17:79514062A>C c.2046T>G p.T682T TCGA-W5-AA39-01A-11D-A417-09 C17orf71 17 57288786 57288786 + Silent SNP G T g.chr17:57288786G>T c.1374G>T p.V458V TCGA-W5-AA2H-01A-31D-A417-09 C17orf71 17 57288383 57288383 + Missense_Mutation SNP A C g.chr17:57288383A>C c.971A>C p.N324T TCGA-ZD-A8I3-01A-11D-A417-09 C17orf77 17 72588674 72588674 + Missense_Mutation SNP G C g.chr17:72588674G>C c.489G>C p.L163F TCGA-ZH-A8Y4-01A-11D-A417-09 C17orf78 17 35746204 35746204 + Missense_Mutation SNP G T g.chr17:35746204G>T c.657G>T p.K219N TCGA-W5-AA2G-01A-11D-A417-09 C17orf78 17 35746210 35746210 + Silent SNP C T g.chr17:35746210C>T c.663C>T p.C221C TCGA-W5-AA2X-01A-11D-A417-09 C17orf81 17 7156115 7156124 + Frame_Shift_Del DEL CTCTTGAAGG - g.chr17:7156115_7156124delCTCTTGAAGG c.121_130delCTCTTGAAGG p.LLKA41fs TCGA-W5-AA39-01A-11D-A417-09 C18orf22 18 77805954 77805954 + Missense_Mutation SNP G T g.chr18:77805954G>T c.831G>T p.K277N TCGA-W5-AA38-01A-11D-A417-09 C18orf22 18 77802202 77802202 + Missense_Mutation SNP A C g.chr18:77802202A>C c.559A>C p.N187H TCGA-ZH-A8Y4-01A-11D-A417-09 C18orf25 18 43833705 43833705 + Missense_Mutation SNP G C g.chr18:43833705G>C c.941G>C p.G314A TCGA-ZH-A8Y5-01A-11D-A417-09 C18orf34 18 30926184 30926184 + Missense_Mutation SNP C T g.chr18:30926184C>T c.649G>A p.V217M TCGA-3X-AAVE-01A-11D-A417-09 C18orf34 18 30950047 30950047 + Missense_Mutation SNP A T g.chr18:30950047A>T c.315T>A p.D105E TCGA-4G-AAZO-01A-12D-A417-09 C18orf54 18 51888024 51888024 + Missense_Mutation SNP C A g.chr18:51888024C>A c.295C>A p.L99I TCGA-ZH-A8Y4-01A-11D-A417-09 C19orf2 19 30476190 30476190 + Silent SNP A G g.chr19:30476190A>G c.213A>G p.K71K TCGA-W5-AA34-01A-11D-A417-09 C19orf26 19 1235857 1235857 + Missense_Mutation SNP C T g.chr19:1235857C>T c.148G>A p.V50M TCGA-W5-AA2I-01A-32D-A417-09 C19orf26 19 1234721 1234721 + Missense_Mutation SNP T C g.chr19:1234721T>C c.536A>G p.D179G TCGA-WD-A7RX-01A-12D-A417-09 C19orf41 19 50657879 50657879 + Missense_Mutation SNP C T g.chr19:50657879C>T c.601G>A p.V201I TCGA-W5-AA2T-01A-12D-A417-09 C19orf51 19 55670934 55670934 + Missense_Mutation SNP G T g.chr19:55670934G>T c.1205C>A p.A402E TCGA-4G-AAZO-01A-12D-A417-09 C19orf51 19 55672774 55672774 + Missense_Mutation SNP G A g.chr19:55672774G>A c.676C>T p.H226Y TCGA-ZH-A8Y2-01A-11D-A417-09 C19orf54 19 41248653 41248653 + Silent SNP A T g.chr19:41248653A>T c.741T>A p.A247A TCGA-W5-AA39-01A-11D-A417-09 C19orf59 19 7741979 7741979 + Missense_Mutation SNP G T g.chr19:7741979G>T c.12G>T p.E4D TCGA-YR-A95A-01A-12D-A417-09 C1QBP 17 5341560 5341560 + Missense_Mutation SNP T G g.chr17:5341560T>G c.266A>C p.E89A TCGA-W5-AA39-01A-11D-A417-09 C1QL1 17 43037583 43037583 + Missense_Mutation SNP G T g.chr17:43037583G>T c.750C>A p.F250L TCGA-ZD-A8I3-01A-11D-A417-09 C1QTNF9 13 24895265 24895265 + Nonsense_Mutation SNP C T g.chr13:24895265C>T c.361C>T p.Q121* TCGA-ZD-A8I3-01A-11D-A417-09 C1S 12 7177759 7177759 + Missense_Mutation SNP G A g.chr12:7177759G>A c.1871G>A p.G624D TCGA-W5-AA39-01A-11D-A417-09 C1orf104 1 155290956 155290956 + Intron SNP G T g.chr1:155290956G>T TCGA-W5-AA39-01A-11D-A417-09 C1orf111 1 162343888 162343888 + Missense_Mutation SNP G T g.chr1:162343888G>T c.736C>A p.P246T TCGA-YR-A95A-01A-12D-A417-09 C1orf112 1 169796306 169796306 + Silent SNP G A g.chr1:169796306G>A c.963G>A p.Q321Q TCGA-ZH-A8Y2-01A-11D-A417-09 C1orf129 1 170934396 170934396 + Splice_Site SNP C T g.chr1:170934396C>T c.480C>T p.Y160Y TCGA-W5-AA30-01A-31D-A417-09 C1orf129 1 170941012 170941012 + Missense_Mutation SNP C T g.chr1:170941012C>T c.604C>T p.R202W TCGA-W6-AA0S-01A-11D-A417-09 C1orf172 1 27278443 27278443 + Silent SNP G T g.chr1:27278443G>T c.429C>A p.P143P TCGA-W5-AA2O-01A-11D-A417-09 C1orf173 1 75038477 75038477 + Missense_Mutation SNP C T g.chr1:75038477C>T c.2917G>A p.A973T TCGA-W5-AA2Q-01A-11D-A417-09 C1orf173 1 75039126 75039126 + Missense_Mutation SNP G T g.chr1:75039126G>T c.2268C>A p.N756K TCGA-W5-AA33-01A-11D-A417-09 C1orf174 1 3807598 3807598 + Silent SNP T G g.chr1:3807598T>G c.153A>C p.T51T TCGA-W5-AA39-01A-11D-A417-09 C1orf175 1 55172120 55172120 + Silent SNP C A g.chr1:55172120C>A c.3577C>A p.R1193R TCGA-4G-AAZO-01A-12D-A417-09 C1orf175 1 55168304 55168304 + Silent SNP G A g.chr1:55168304G>A c.3450G>A p.V1150V TCGA-W5-AA39-01A-11D-A417-09 C1orf186 1 206243207 206243207 + Missense_Mutation SNP G T g.chr1:206243207G>T c.55C>A p.L19I TCGA-W5-AA2W-01A-11D-A417-09 C1orf190 1 46685389 46685389 + Missense_Mutation SNP G T g.chr1:46685389G>T c.217G>T p.D73Y TCGA-ZU-A8S4-01A-11D-A417-09 C1orf198 1 230979495 230979495 + Missense_Mutation SNP C T g.chr1:230979495C>T c.532G>A p.A178T TCGA-4G-AAZT-01A-11D-A417-09 C1orf74 1 209956321 209956321 + Missense_Mutation SNP G T g.chr1:209956321G>T c.659C>A p.S220Y TCGA-4G-AAZO-01A-12D-A417-09 C1orf89 1 16563182 16563182 + Missense_Mutation SNP G A g.chr1:16563182G>A c.56C>T p.A19V TCGA-3X-AAV9-01A-72D-A417-09 C1orf9 1 172558420 172558420 + Missense_Mutation SNP C G g.chr1:172558420C>G c.2179C>G p.Q727E TCGA-W5-AA39-01A-11D-A417-09 C1orf92 1 156901798 156901798 + Missense_Mutation SNP C T g.chr1:156901798C>T c.1420C>T p.L474F TCGA-3X-AAV9-01A-72D-A417-09 C1orf92 1 156893876 156893876 + Frame_Shift_Del DEL A - g.chr1:156893876delA c.296delA p.E99fs TCGA-ZH-A8Y5-01A-11D-A417-09 C1orf94 1 34663014 34663014 + Missense_Mutation SNP G A g.chr1:34663014G>A c.509G>A p.S170N TCGA-W5-AA2U-01A-11D-A417-09 C2 6 31903768 31903768 + Missense_Mutation SNP G T g.chr6:31903768G>T c.918G>T p.M306I TCGA-WD-A7RX-01A-12D-A417-09 C20orf106 20 55100881 55100881 + Nonsense_Mutation SNP C T g.chr20:55100881C>T c.271C>T p.R91* TCGA-W5-AA30-01A-31D-A417-09 C20orf117 20 35445812 35445812 + Nonsense_Mutation SNP G A g.chr20:35445812G>A c.418C>T p.Q140* TCGA-W5-AA2Q-01A-11D-A417-09 C20orf151 20 60991830 60991830 + Missense_Mutation SNP C T g.chr20:60991830C>T c.299G>A p.R100H TCGA-3X-AAVE-01A-11D-A417-09 C20orf151 20 60985985 60985985 + Silent SNP G A g.chr20:60985985G>A c.1944C>T p.D648D TCGA-W5-AA2G-01A-11D-A417-09 C20orf152 20 34568459 34568459 + Missense_Mutation SNP T A g.chr20:34568459T>A c.322T>A p.C108S TCGA-W5-AA39-01A-11D-A417-09 C20orf186 20 31685468 31685468 + Nonsense_Mutation SNP C T g.chr20:31685468C>T c.1444C>T p.Q482* TCGA-W5-AA2O-01A-11D-A417-09 C20orf194 20 3240180 3240180 + Missense_Mutation SNP G T g.chr20:3240180G>T c.3001C>A p.P1001T TCGA-ZH-A8Y2-01A-11D-A417-09 C20orf26 20 20056250 20056250 + Missense_Mutation SNP G T g.chr20:20056250G>T c.557G>T p.R186L TCGA-3X-AAV9-01A-72D-A417-09 C20orf3 20 24954309 24954309 + Silent SNP G A g.chr20:24954309G>A c.393C>T p.T131T TCGA-W5-AA39-01A-11D-A417-09 C20orf70 20 31761957 31761957 + Silent SNP G T g.chr20:31761957G>T c.375G>T p.L125L TCGA-W5-AA2X-01A-11D-A417-09 C20orf72 20 17956445 17956445 + Missense_Mutation SNP G C g.chr20:17956445G>C c.630G>C p.Q210H TCGA-W5-AA2Z-01A-11D-A417-09 C20orf79 20 18794574 18794574 + Silent SNP C T g.chr20:18794574C>T c.115C>T p.L39L TCGA-4G-AAZT-01A-11D-A417-09 C22orf42 22 32555003 32555003 + Missense_Mutation SNP G T g.chr22:32555003G>T c.200C>A p.P67Q TCGA-W5-AA30-01A-31D-A417-09 C2CD2 21 43327232 43327232 + Missense_Mutation SNP G T g.chr21:43327232G>T c.1187C>A p.P396H TCGA-3X-AAV9-01A-72D-A417-09 C2CD2 21 43327893 43327893 + Splice_Site SNP C T g.chr21:43327893C>T c.1019G>A p.G340D TCGA-W5-AA39-01A-11D-A417-09 C2CD2L 11 118983266 118983266 + Missense_Mutation SNP C T g.chr11:118983266C>T c.403C>T p.L135F TCGA-W5-AA39-01A-11D-A417-09 C2CD3 11 73805030 73805030 + Missense_Mutation SNP G T g.chr11:73805030G>T c.3175C>A p.P1059T TCGA-W5-AA2O-01A-11D-A417-09 C2CD4A 15 62359940 62359940 + Missense_Mutation SNP C T g.chr15:62359940C>T c.128C>T p.P43L TCGA-4G-AAZT-01A-11D-A417-09 C2orf16 2 27799950 27799950 + Missense_Mutation SNP G T g.chr2:27799950G>T c.511G>T p.G171C TCGA-W5-AA2I-01A-32D-A417-09 C2orf16 2 27804408 27804408 + Missense_Mutation SNP C T g.chr2:27804408C>T c.4969C>T p.P1657S TCGA-ZU-A8S4-01A-11D-A417-09 C2orf42 2 70392715 70392715 + Silent SNP C T g.chr2:70392715C>T c.1197G>A p.L399L TCGA-ZH-A8Y6-01A-11D-A417-09 C2orf55 2 99411049 99411049 + Silent SNP T C g.chr2:99411049T>C c.2835A>G p.E945E TCGA-W5-AA30-01A-31D-A417-09 C2orf63 2 55439844 55439844 + Missense_Mutation SNP C G g.chr2:55439844C>G c.464G>C p.C155S TCGA-W5-AA30-01A-31D-A417-09 C2orf71 2 29295281 29295281 + Missense_Mutation SNP T A g.chr2:29295281T>A c.1847A>T p.Q616L TCGA-W5-AA39-01A-11D-A417-09 C2orf77 2 170510628 170510628 + Missense_Mutation SNP G T g.chr2:170510628G>T c.916C>A p.R306S TCGA-W6-AA0S-01A-11D-A417-09 C2orf86 2 63609210 63609210 + Silent SNP C T g.chr2:63609210C>T c.1455G>A p.Q485Q TCGA-W5-AA2U-01A-11D-A417-09 C3 19 6678260 6678260 + Missense_Mutation SNP T C g.chr19:6678260T>C c.4753A>G p.I1585V TCGA-W5-AA2Q-01A-11D-A417-09 C3orf1 3 119217752 119217752 + Missense_Mutation SNP C T g.chr3:119217752C>T c.172C>T p.L58F TCGA-W5-AA39-01A-11D-A417-09 C3orf15 3 119466657 119466657 + Splice_Site SNP G T g.chr3:119466657G>T TCGA-W5-AA2U-01A-11D-A417-09 C3orf17 3 112727076 112727076 + Missense_Mutation SNP G T g.chr3:112727076G>T c.1177C>A p.L393M TCGA-ZH-A8Y5-01A-11D-A417-09 C3orf23 3 44441862 44441862 + Missense_Mutation SNP C T g.chr3:44441862C>T c.901C>T p.P301S TCGA-YR-A95A-01A-12D-A417-09 C3orf52 3 111835806 111835806 + 3'UTR SNP C A g.chr3:111835806C>A TCGA-W5-AA2G-01A-11D-A417-09 C3orf52 3 111828389 111828389 + Splice_Site SNP G A g.chr3:111828389G>A TCGA-W5-AA2O-01A-11D-A417-09 C3orf63 3 56658514 56658514 + IGR SNP C T g.chr3:56658514C>T TCGA-3X-AAVE-01A-11D-A417-09 C3orf63 3 56695042 56695042 + Silent SNP A G g.chr3:56695042A>G c.1164T>C p.P388P TCGA-W5-AA2X-01A-11D-A417-09 C3orf63 3 56667432 56667432 + Silent SNP G A g.chr3:56667432G>A c.3387C>T p.N1129N TCGA-W5-AA30-01A-31D-A417-09 C3orf67 3 58870322 58870322 + Missense_Mutation SNP G T g.chr3:58870322G>T c.289C>A p.R97S TCGA-W5-AA38-01A-11D-A417-09 C4orf14 4 57843464 57843464 + Silent SNP T C g.chr4:57843464T>C c.288A>G p.Q96Q TCGA-W5-AA30-01A-31D-A417-09 C4orf17 4 100460497 100460497 + Missense_Mutation SNP C A g.chr4:100460497C>A c.806C>A p.T269N TCGA-W5-AA34-01A-11D-A417-09 C4orf29 4 128904141 128904141 + Missense_Mutation SNP C T g.chr4:128904141C>T c.31C>T p.R11W TCGA-W5-AA2G-01A-11D-A417-09 C4orf41 4 184588276 184588276 + Missense_Mutation SNP G T g.chr4:184588276G>T c.438G>T p.L146F TCGA-ZH-A8Y2-01A-11D-A417-09 C4orf49 4 140196546 140196546 + Splice_Site SNP G T g.chr4:140196546G>T c.83C>A p.A28E TCGA-W5-AA2Z-01A-11D-A417-09 C5orf30 5 102611819 102611819 + Missense_Mutation SNP G T g.chr5:102611819G>T c.199G>T p.G67C TCGA-W5-AA2Z-01A-11D-A417-09 C5orf36 5 93732013 93732013 + Missense_Mutation SNP T C g.chr5:93732013T>C c.3089A>G p.N1030S TCGA-W5-AA2R-01A-11D-A417-09 C5orf4 5 154202045 154202045 + Missense_Mutation SNP G A g.chr5:154202045G>A c.665C>T p.P222L TCGA-3X-AAVE-01A-11D-A417-09 C5orf58 5 169661164 169661164 + Missense_Mutation SNP C A g.chr5:169661164C>A c.25C>A p.P9T TCGA-4G-AAZO-01A-12D-A417-09 C5orf62 5 150175154 150175154 + Missense_Mutation SNP G A g.chr5:150175154G>A c.152G>A p.R51Q TCGA-ZH-A8Y2-01A-11D-A417-09 C6orf136 6 30619191 30619191 + Missense_Mutation SNP G T g.chr6:30619191G>T c.712G>T p.V238F TCGA-W5-AA2X-01A-11D-A417-09 C6orf154 6 43476117 43476117 + Missense_Mutation SNP G T g.chr6:43476117G>T c.475C>A p.P159T TCGA-ZD-A8I3-01A-11D-A417-09 C6orf170 6 121481233 121481233 + Missense_Mutation SNP G T g.chr6:121481233G>T c.2696C>A p.P899H TCGA-ZH-A8Y4-01A-11D-A417-09 C6orf203 6 107361230 107361230 + Missense_Mutation SNP G T g.chr6:107361230G>T c.266G>T p.R89M TCGA-W5-AA2O-01A-11D-A417-09 C6orf204 6 118886922 118886922 + Missense_Mutation SNP G A g.chr6:118886922G>A c.790C>T p.P264S TCGA-3X-AAVC-01A-21D-A417-09 C6orf62 6 24706388 24706388 + Missense_Mutation SNP G T g.chr6:24706388G>T c.667C>A p.L223I TCGA-W5-AA2T-01A-12D-A417-09 C6orf70 6 170179308 170179308 + Silent SNP G C g.chr6:170179308G>C c.1770G>C p.L590L TCGA-W5-AA33-01A-11D-A417-09 C6orf72 6 149911865 149911865 + Missense_Mutation SNP G T g.chr6:149911865G>T c.884G>T p.G295V TCGA-ZU-A8S4-01A-11D-A417-09 C6orf81 6 35716414 35716414 + Missense_Mutation SNP G A g.chr6:35716414G>A c.790G>A p.A264T TCGA-W5-AA2W-01A-11D-A417-09 C6orf81 6 35715084 35715084 + Missense_Mutation SNP C T g.chr6:35715084C>T c.491C>T p.T164M TCGA-ZH-A8Y6-01A-11D-A417-09 C6orf97 6 151869440 151869440 + Splice_Site SNP T G g.chr6:151869440T>G c.590T>G p.L197R TCGA-W5-AA39-01A-11D-A417-09 C7 5 40945430 40945430 + Missense_Mutation SNP G T g.chr5:40945430G>T c.698G>T p.R233L TCGA-W5-AA2R-01A-11D-A417-09 C7orf10 7 40277290 40277290 + Missense_Mutation SNP G A g.chr7:40277290G>A c.562G>A p.A188T TCGA-W5-AA2T-01A-12D-A417-09 C7orf27 7 2586990 2586990 + Missense_Mutation SNP C T g.chr7:2586990C>T c.250G>A p.A84T TCGA-ZD-A8I3-01A-11D-A417-09 C7orf33 7 148288051 148288051 + Nonsense_Mutation SNP G T g.chr7:148288051G>T c.34G>T p.E12* TCGA-3X-AAVB-01A-31D-A417-09 C7orf58 7 120773877 120773877 + Splice_Site SNP G T g.chr7:120773877G>T c.1578G>T p.W526C TCGA-W5-AA2H-01A-31D-A417-09 C7orf58 7 120765873 120765873 + Splice_Site SNP G T g.chr7:120765873G>T TCGA-YR-A95A-01A-12D-A417-09 C8B 1 57409394 57409394 + Silent SNP G A g.chr1:57409394G>A c.1209C>T p.C403C TCGA-3X-AAVE-01A-11D-A417-09 C8orf33 8 146277985 146277985 + Missense_Mutation SNP T C g.chr8:146277985T>C c.20T>C p.L7P TCGA-W5-AA39-01A-11D-A417-09 C8orf34 8 69621314 69621314 + Splice_Site SNP G A g.chr8:69621314G>A c.1069G>A p.D357N TCGA-3X-AAV9-01A-72D-A417-09 C8orf38 8 96047805 96047805 + Splice_Site SNP G T g.chr8:96047805G>T TCGA-W5-AA2R-01A-11D-A417-09 C8orf40 8 42403821 42403821 + Missense_Mutation SNP A C g.chr8:42403821A>C c.157A>C p.I53L TCGA-ZH-A8Y8-01A-51D-A417-09 C8orf79 8 12870249 12870249 + Missense_Mutation SNP G T g.chr8:12870249G>T c.211G>T p.D71Y TCGA-ZH-A8Y4-01A-11D-A417-09 C9orf131 9 35043842 35043842 + Missense_Mutation SNP G T g.chr9:35043842G>T c.1216G>T p.D406Y TCGA-4G-AAZO-01A-12D-A417-09 C9orf131 9 35042287 35042287 + Frame_Shift_Del DEL G - g.chr9:35042287delG c.36delG p.K12fs TCGA-W5-AA39-01A-11D-A417-09 C9orf135 9 72501779 72501779 + Missense_Mutation SNP G T g.chr9:72501779G>T c.475G>T p.D159Y TCGA-3X-AAVB-01A-31D-A417-09 C9orf152 9 112963453 112963453 + Missense_Mutation SNP C A g.chr9:112963453C>A c.495G>T p.M165I TCGA-W5-AA39-01A-11D-A417-09 C9orf167 9 140174311 140174311 + Silent SNP C T g.chr9:140174311C>T c.1170C>T p.R390R TCGA-W5-AA39-01A-11D-A417-09 C9orf5 9 111798539 111798539 + Silent SNP A G g.chr9:111798539A>G c.2346T>C p.F782F TCGA-W5-AA39-01A-11D-A417-09 C9orf50 9 132377802 132377802 + Missense_Mutation SNP G T g.chr9:132377802G>T c.841C>A p.Q281K TCGA-W5-AA2G-01A-11D-A417-09 C9orf7 9 136325237 136325237 + Frame_Shift_Del DEL C - g.chr9:136325237delC c.49delC p.P17fs TCGA-W5-AA2T-01A-12D-A417-09 C9orf72 9 27566901 27566901 + Missense_Mutation SNP C T g.chr9:27566901C>T c.218G>A p.R73Q TCGA-ZD-A8I3-01A-11D-A417-09 C9orf79 9 90502147 90502147 + Silent SNP C A g.chr9:90502147C>A c.2745C>A p.T915T TCGA-W5-AA2U-01A-11D-A417-09 C9orf85 9 74526743 74526743 + Silent SNP G A g.chr9:74526743G>A c.93G>A p.V31V TCGA-W5-AA39-01A-11D-A417-09 C9orf86 9 139734309 139734309 + Missense_Mutation SNP G T g.chr9:139734309G>T c.1922G>T p.S641I TCGA-W5-AA2R-01A-11D-A417-09 C9orf86 9 139734291 139734291 + Missense_Mutation SNP C T g.chr9:139734291C>T c.1904C>T p.A635V TCGA-W5-AA39-01A-11D-A417-09 C9orf86 9 139734973 139734973 + Nonstop_Mutation SNP A C g.chr9:139734973A>C c.2189A>C p.*730S TCGA-W5-AA39-01A-11D-A417-09 C9orf93 9 15784546 15784546 + Nonsense_Mutation SNP G T g.chr9:15784546G>T c.3121G>T p.E1041* TCGA-ZU-A8S4-01A-11D-A417-09 C9orf96 9 136270413 136270413 + Silent SNP G A g.chr9:136270413G>A c.1911G>A p.K637K TCGA-W5-AA39-01A-11D-A417-09 C9orf98 9 135668080 135668080 + Silent SNP G T g.chr9:135668080G>T c.1062C>A p.G354G TCGA-ZH-A8Y6-01A-11D-A417-09 CA10 17 49825140 49825140 + Silent SNP G T g.chr17:49825140G>T c.318C>A p.S106S TCGA-W5-AA2R-01A-11D-A417-09 CA10 17 49710967 49710967 + Silent SNP G T g.chr17:49710967G>T c.834C>A p.I278I TCGA-ZU-A8S4-01A-11D-A417-09 CA3 8 86351153 86351153 + Missense_Mutation SNP G T g.chr8:86351153G>T c.15G>T p.W5C TCGA-WD-A7RX-01A-12D-A417-09 CA6 1 9027751 9027751 + Missense_Mutation SNP A G g.chr1:9027751A>G c.605A>G p.Q202R TCGA-W5-AA2O-01A-11D-A417-09 CA8 8 61144922 61144922 + Missense_Mutation SNP C A g.chr8:61144922C>A c.434G>T p.W145L TCGA-4G-AAZO-01A-12D-A417-09 CA9 9 35676345 35676345 + Missense_Mutation SNP G T g.chr9:35676345G>T c.799G>T p.G267W TCGA-W5-AA2T-01A-12D-A417-09 CAB39L 13 49951237 49951237 + Missense_Mutation SNP C T g.chr13:49951237C>T c.142G>A p.A48T TCGA-W5-AA34-01A-11D-A417-09 CABIN1 22 24573580 24573580 + Missense_Mutation SNP G T g.chr22:24573580G>T c.6314G>T p.S2105I TCGA-ZD-A8I3-01A-11D-A417-09 CABYR 18 21736349 21736349 + Missense_Mutation SNP C A g.chr18:21736349C>A c.590C>A p.S197Y TCGA-W5-AA2I-01A-32D-A417-09 CACNA1A 19 13318673 13318690 + In_Frame_Del DEL CTGCTGCTGCTGCTGCTG - g.chr19:13318673_13318690delCTGCTGCTGCTGCTGCTG c.6958_6975delCAGCAGCAGCAGCAGCAG p.QQQQQQ2320del TCGA-W6-AA0S-01A-11D-A417-09 CACNA1C 12 2721141 2721141 + Missense_Mutation SNP G T g.chr12:2721141G>T c.3850G>T p.V1284L TCGA-4G-AAZO-01A-12D-A417-09 CACNA1D 3 53810928 53810928 + Missense_Mutation SNP G A g.chr3:53810928G>A c.4532G>A p.R1511H TCGA-3X-AAVE-01A-11D-A417-09 CACNA1E 1 181765857 181765857 + Nonsense_Mutation SNP G T g.chr1:181765857G>T c.6262G>T p.E2088* TCGA-W5-AA2W-01A-11D-A417-09 CACNA1E 1 181686266 181686266 + Silent SNP G A g.chr1:181686266G>A c.1353G>A p.K451K TCGA-W5-AA2Z-01A-11D-A417-09 CACNA1E 1 181727219 181727219 + Missense_Mutation SNP C T g.chr1:181727219C>T c.4466C>T p.A1489V TCGA-W5-AA30-01A-31D-A417-09 CACNA1E 1 181767937 181767937 + Silent SNP G A g.chr1:181767937G>A c.6909G>A p.L2303L TCGA-W5-AA30-01A-31D-A417-09 CACNA1E 1 181701852 181701852 + Missense_Mutation SNP G A g.chr1:181701852G>A c.2630G>A p.G877D TCGA-W5-AA33-01A-11D-A417-09 CACNA1F 23 49062181 49062181 + Silent SNP G A g.chrX:49062181G>A c.5598C>T p.G1866G TCGA-W5-AA30-01A-31D-A417-09 CACNA1F 23 49079211 49079211 + Nonsense_Mutation SNP G T g.chrX:49079211G>T c.2205C>A p.C735* TCGA-W5-AA33-01A-11D-A417-09 CACNA1G 17 48684279 48684279 + Missense_Mutation SNP G A g.chr17:48684279G>A c.4441G>A p.V1481I TCGA-ZH-A8Y5-01A-11D-A417-09 CACNA1I 22 40059833 40059833 + Missense_Mutation SNP A C g.chr22:40059833A>C c.3584A>C p.E1195A TCGA-W5-AA39-01A-11D-A417-09 CACNA2D2 3 50403587 50403587 + Missense_Mutation SNP C T g.chr3:50403587C>T c.2738G>A p.R913K TCGA-W5-AA2Q-01A-11D-A417-09 CACNA2D4 12 1987537 1987537 + Missense_Mutation SNP C T g.chr12:1987537C>T c.1663G>A p.A555T TCGA-WD-A7RX-01A-12D-A417-09 CACNB2 10 18690927 18690927 + Silent SNP C T g.chr10:18690927C>T c.288C>T p.R96R TCGA-W5-AA2H-01A-31D-A417-09 CACNG2 22 37098604 37098604 + Silent SNP T G g.chr22:37098604T>G c.18A>C p.R6R TCGA-W5-AA2G-01A-11D-A417-09 CACNG4 17 65026740 65026740 + Missense_Mutation SNP G A g.chr17:65026740G>A c.604G>A p.A202T TCGA-3X-AAVC-01A-21D-A417-09 CACNG5 17 64873577 64873577 + Missense_Mutation SNP C T g.chr17:64873577C>T c.127C>T p.P43S TCGA-ZH-A8Y2-01A-11D-A417-09 CAD 2 27447924 27447924 + Missense_Mutation SNP G A g.chr2:27447924G>A c.1433G>A p.G478D TCGA-3X-AAVA-01A-11D-A417-09 CAD 2 27457075 27457075 + Missense_Mutation SNP A G g.chr2:27457075A>G c.3410A>G p.N1137S TCGA-3X-AAVA-01A-11D-A417-09 CAD 2 27464966 27464966 + Missense_Mutation SNP G T g.chr2:27464966G>T c.5882G>T p.R1961L TCGA-3X-AAVC-01A-21D-A417-09 CADM1 11 115049489 115049489 + Missense_Mutation SNP C A g.chr11:115049489C>A c.1085G>T p.R362L TCGA-W5-AA2Q-01A-11D-A417-09 CADM2 3 86010630 86010630 + Missense_Mutation SNP T C g.chr3:86010630T>C c.776T>C p.V259A TCGA-W5-AA2I-01A-32D-A417-09 CADM4 19 44130107 44130107 + Missense_Mutation SNP C A g.chr19:44130107C>A c.711G>T p.E237D TCGA-3X-AAVE-01A-11D-A417-09 CADM4 19 44127517 44127517 + Missense_Mutation SNP C T g.chr19:44127517C>T c.1132G>A p.D378N TCGA-ZH-A8Y8-01A-51D-A417-09 CADPS 3 62477973 62477973 + Missense_Mutation SNP C T g.chr3:62477973C>T c.2876G>A p.R959H TCGA-3X-AAVB-01A-31D-A417-09 CALCB 11 15096669 15096669 + Missense_Mutation SNP T G g.chr11:15096669T>G c.149T>G p.L50R TCGA-W5-AA39-01A-11D-A417-09 CALCR 7 93055882 93055882 + Missense_Mutation SNP C T g.chr7:93055882C>T c.1211G>A p.R404H TCGA-W5-AA2Z-01A-11D-A417-09 CALCR 7 93073026 93073026 + Missense_Mutation SNP G A g.chr7:93073026G>A c.692C>T p.A231V TCGA-W5-AA39-01A-11D-A417-09 CALD1 7 134632323 134632323 + Missense_Mutation SNP G A g.chr7:134632323G>A c.1597G>A p.G533S TCGA-W5-AA2G-01A-11D-A417-09 CALN1 7 71868298 71868298 + Intron SNP G A g.chr7:71868298G>A TCGA-3X-AAVB-01A-31D-A417-09 CALR3 19 16593513 16593513 + Silent SNP C T g.chr19:16593513C>T c.762G>A p.P254P TCGA-W5-AA2Z-01A-11D-A417-09 CAMK1G 1 209785272 209785272 + Missense_Mutation SNP C A g.chr1:209785272C>A c.1051C>A p.P351T TCGA-4G-AAZT-01A-11D-A417-09 CAMK2B 7 44302636 44302636 + Missense_Mutation SNP C A g.chr7:44302636C>A c.188G>T p.R63L TCGA-ZH-A8Y8-01A-51D-A417-09 CAMK2D 4 114435036 114435036 + Missense_Mutation SNP G T g.chr4:114435036G>T c.853C>A p.Q285K TCGA-ZH-A8Y4-01A-11D-A417-09 CAMK2D 4 114680566 114680566 + Missense_Mutation SNP C T g.chr4:114680566C>T c.70G>A p.A24T TCGA-ZH-A8Y4-01A-11D-A417-09 CAMK2G 10 75574960 75574960 + Missense_Mutation SNP G T g.chr10:75574960G>T c.1301C>A p.P434Q TCGA-4G-AAZO-01A-12D-A417-09 CAMLG 5 134074424 134074424 + Missense_Mutation SNP G T g.chr5:134074424G>T c.114G>T p.M38I TCGA-W5-AA30-01A-31D-A417-09 CAMSAP1 9 138703285 138703285 + Nonsense_Mutation SNP G T g.chr9:138703285G>T c.4679C>A p.S1560* TCGA-3X-AAVE-01A-11D-A417-09 CAMTA1 1 7737779 7737779 + Missense_Mutation SNP G T g.chr1:7737779G>T c.2900G>T p.W967L TCGA-W5-AA2H-01A-31D-A417-09 CAMTA1 1 7811427 7811427 + Missense_Mutation SNP G A g.chr1:7811427G>A c.4858G>A p.A1620T TCGA-ZH-A8Y2-01A-11D-A417-09 CAND1 12 67700164 67700164 + Nonsense_Mutation SNP C T g.chr12:67700164C>T c.2716C>T p.Q906* TCGA-ZU-A8S4-01A-11D-A417-09 CAP1 1 40530008 40530008 + Missense_Mutation SNP G A g.chr1:40530008G>A c.404G>A p.S135N TCGA-W6-AA0S-01A-11D-A417-09 CAPN1 11 64950279 64950279 + Missense_Mutation SNP A C g.chr11:64950279A>C c.107A>C p.K36T TCGA-W5-AA39-01A-11D-A417-09 CAPN12 19 39229091 39229091 + Missense_Mutation SNP C T g.chr19:39229091C>T c.857G>A p.G286D TCGA-4G-AAZT-01A-11D-A417-09 CAPN12 19 39234742 39234742 + Missense_Mutation SNP C T g.chr19:39234742C>T c.64G>A p.G22R TCGA-W5-AA2I-01A-32D-A417-09 CAPN13 2 31010106 31010106 + Missense_Mutation SNP A T g.chr2:31010106A>T c.86T>A p.L29Q TCGA-ZH-A8Y6-01A-11D-A417-09 CAPN9 1 230928600 230928600 + Frame_Shift_Del DEL T - g.chr1:230928600delT c.1796delT p.L599fs TCGA-4G-AAZO-01A-12D-A417-09 CAPRIN1 11 34074142 34074142 + Missense_Mutation SNP G T g.chr11:34074142G>T c.175G>T p.G59W TCGA-4G-AAZO-01A-12D-A417-09 CAPRIN1 11 34101180 34101180 + Missense_Mutation SNP G C g.chr11:34101180G>C c.694G>C p.V232L TCGA-W5-AA30-01A-31D-A417-09 CAPRIN1 11 34110974 34110974 + Missense_Mutation SNP C A g.chr11:34110974C>A c.1264C>A p.Q422K TCGA-W5-AA30-01A-31D-A417-09 CAPRIN1 11 34074072 34074072 + Silent SNP C T g.chr11:34074072C>T c.105C>T p.A35A TCGA-W5-AA39-01A-11D-A417-09 CARD10 22 37888537 37888537 + Missense_Mutation SNP G T g.chr22:37888537G>T c.2656C>A p.L886M TCGA-W5-AA31-01A-11D-A417-09 CARD10 22 37900277 37900277 + Missense_Mutation SNP T C g.chr22:37900277T>C c.1550A>G p.N517S TCGA-ZH-A8Y4-01A-11D-A417-09 CARD11 7 2977638 2977638 + Missense_Mutation SNP A G g.chr7:2977638A>G c.1046T>C p.L349P TCGA-W5-AA39-01A-11D-A417-09 CARD6 5 40841684 40841684 + Missense_Mutation SNP A G g.chr5:40841684A>G c.200A>G p.K67R TCGA-W5-AA2Z-01A-11D-A417-09 CARNS1 11 67186527 67186527 + Missense_Mutation SNP A G g.chr11:67186527A>G c.296A>G p.Q99R TCGA-W5-AA39-01A-11D-A417-09 CASD1 7 94173762 94173762 + Missense_Mutation SNP G T g.chr7:94173762G>T c.1396G>T p.A466S TCGA-W5-AA34-01A-11D-A417-09 CASK 23 41469246 41469246 + Missense_Mutation SNP C T g.chrX:41469246C>T c.1066G>A p.E356K TCGA-W5-AA2W-01A-11D-A417-09 CASKIN1 16 2239059 2239059 + Missense_Mutation SNP C T g.chr16:2239059C>T c.586G>A p.A196T TCGA-W5-AA2G-01A-11D-A417-09 CASKIN1 16 2233907 2233907 + Missense_Mutation SNP G T g.chr16:2233907G>T c.1452C>A p.F484L TCGA-W5-AA39-01A-11D-A417-09 CASP1 11 104899882 104899882 + Missense_Mutation SNP C A g.chr11:104899882C>A c.975G>T p.K325N TCGA-4G-AAZO-01A-12D-A417-09 CASP8 2 202149565 202149565 + Missense_Mutation SNP C A g.chr2:202149565C>A c.829C>A p.L277I TCGA-ZD-A8I3-01A-11D-A417-09 CASP8AP2 6 90575684 90575684 + RNA SNP C A g.chr6:90575684C>A TCGA-W5-AA2G-01A-11D-A417-09 CASQ1 1 160169648 160169648 + Missense_Mutation SNP C T g.chr1:160169648C>T c.992C>T p.P331L TCGA-4G-AAZO-01A-12D-A417-09 CASS4 20 55033541 55033541 + Missense_Mutation SNP C T g.chr20:55033541C>T c.2099C>T p.A700V TCGA-W5-AA2I-01A-32D-A417-09 CAST 5 96073607 96073607 + Nonsense_Mutation SNP G T g.chr5:96073607G>T c.505G>T p.E169* TCGA-3X-AAVB-01A-31D-A417-09 CATSPER1 11 65792768 65792768 + Missense_Mutation SNP G T g.chr11:65792768G>T c.1083C>A p.H361Q TCGA-W5-AA2X-01A-11D-A417-09 CATSPER3 5 134305631 134305631 + Missense_Mutation SNP G T g.chr5:134305631G>T c.101G>T p.R34M TCGA-ZH-A8Y4-01A-11D-A417-09 CATSPERB 14 92105595 92105595 + Splice_Site SNP C T g.chr14:92105595C>T TCGA-W5-AA2W-01A-11D-A417-09 CAV1 7 116199003 116199003 + Missense_Mutation SNP G T g.chr7:116199003G>T c.199G>T p.D67Y TCGA-3X-AAV9-01A-72D-A417-09 CCBE1 18 57106936 57106936 + Missense_Mutation SNP G T g.chr18:57106936G>T c.888C>A p.H296Q TCGA-W5-AA39-01A-11D-A417-09 CCDC102B 18 66721302 66721302 + Missense_Mutation SNP G T g.chr18:66721302G>T c.1470G>T p.Q490H TCGA-4G-AAZT-01A-11D-A417-09 CCDC103 17 42979874 42979874 + Nonsense_Mutation SNP G T g.chr17:42979874G>T c.418G>T p.G140* TCGA-ZH-A8Y2-01A-11D-A417-09 CCDC109B 4 110605624 110605624 + Missense_Mutation SNP C T g.chr4:110605624C>T c.638C>T p.S213L TCGA-3X-AAVA-01A-11D-A417-09 CCDC129 7 31617905 31617905 + Missense_Mutation SNP C T g.chr7:31617905C>T c.1027C>T p.P343S TCGA-3X-AAVC-01A-21D-A417-09 CCDC129 7 31617535 31617535 + Silent SNP G T g.chr7:31617535G>T c.657G>T p.L219L TCGA-W5-AA2U-01A-11D-A417-09 CCDC132 7 92970748 92970748 + Missense_Mutation SNP G T g.chr7:92970748G>T c.2068G>T p.A690S TCGA-ZH-A8Y4-01A-11D-A417-09 CCDC135 16 57762447 57762447 + Missense_Mutation SNP A T g.chr16:57762447A>T c.2342A>T p.K781M TCGA-ZH-A8Y1-01A-11D-A417-09 CCDC136 7 128446399 128446399 + Silent SNP C A g.chr7:128446399C>A c.1198C>A p.R400R TCGA-3X-AAVB-01A-31D-A417-09 CCDC138 2 109463227 109463227 + Missense_Mutation SNP G A g.chr2:109463227G>A c.1357G>A p.G453S TCGA-3X-AAVC-01A-21D-A417-09 CCDC138 2 109405307 109405307 + Splice_Site SNP G T g.chr2:109405307G>T TCGA-W5-AA38-01A-11D-A417-09 CCDC14 3 123633883 123633883 + Missense_Mutation SNP C T g.chr3:123633883C>T c.2605G>A p.A869T TCGA-W5-AA2H-01A-31D-A417-09 CCDC141 2 179733971 179733971 + Missense_Mutation SNP G T g.chr2:179733971G>T c.2267C>A p.A756D TCGA-W5-AA2I-01A-32D-A417-09 CCDC142 2 74701921 74701921 + Missense_Mutation SNP G T g.chr2:74701921G>T c.2005C>A p.Q669K TCGA-W5-AA2X-01A-11D-A417-09 CCDC147 10 106118238 106118238 + Missense_Mutation SNP T C g.chr10:106118238T>C c.149T>C p.M50T TCGA-WD-A7RX-01A-12D-A417-09 CCDC15 11 124862504 124862504 + Missense_Mutation SNP G T g.chr11:124862504G>T c.2060G>T p.R687I TCGA-3X-AAV9-01A-72D-A417-09 CCDC150 2 197521765 197521765 + Missense_Mutation SNP C T g.chr2:197521765C>T c.481C>T p.R161C TCGA-W5-AA2Z-01A-11D-A417-09 CCDC37 3 126142435 126142435 + Missense_Mutation SNP G A g.chr3:126142435G>A c.1234G>A p.E412K TCGA-W5-AA2Z-01A-11D-A417-09 CCDC45 17 62533848 62533848 + Missense_Mutation SNP C G g.chr17:62533848C>G c.2417C>G p.S806C TCGA-3X-AAV9-01A-72D-A417-09 CCDC52 3 113187725 113187725 + Missense_Mutation SNP G A g.chr3:113187725G>A c.773C>T p.A258V TCGA-W6-AA0S-01A-11D-A417-09 CCDC57 17 80151670 80151670 + Silent SNP C T g.chr17:80151670C>T c.813G>A p.Q271Q TCGA-W5-AA2U-01A-11D-A417-09 CCDC61 19 46511419 46511419 + Silent SNP C T g.chr19:46511419C>T c.411C>T p.L137L TCGA-W5-AA2H-01A-31D-A417-09 CCDC62 12 123262119 123262119 + Nonsense_Mutation SNP C T g.chr12:123262119C>T c.118C>T p.R40* TCGA-W5-AA30-01A-31D-A417-09 CCDC66 3 56653888 56653888 + Nonsense_Mutation SNP C T g.chr3:56653888C>T c.2719C>T p.R907* TCGA-ZH-A8Y8-01A-51D-A417-09 CCDC74A 2 132285743 132285743 + Missense_Mutation SNP T C g.chr2:132285743T>C c.200T>C p.M67T TCGA-W5-AA39-01A-11D-A417-09 CCDC80 3 112357186 112357186 + Nonsense_Mutation SNP C A g.chr3:112357186C>A c.1567G>T p.E523* TCGA-W5-AA38-01A-11D-A417-09 CCDC83 11 85630420 85630420 + Missense_Mutation SNP T A g.chr11:85630420T>A c.1109T>A p.V370E TCGA-W5-AA39-01A-11D-A417-09 CCDC83 11 85597249 85597249 + Missense_Mutation SNP G T g.chr11:85597249G>T c.350G>T p.R117L TCGA-ZH-A8Y8-01A-51D-A417-09 CCDC88C 14 91883098 91883098 + Missense_Mutation SNP G T g.chr14:91883098G>T c.145C>A p.Q49K TCGA-W5-AA2U-01A-11D-A417-09 CCDC88C 14 91744298 91744298 + Missense_Mutation SNP G T g.chr14:91744298G>T c.5026C>A p.L1676M TCGA-ZH-A8Y8-01A-51D-A417-09 CCDC96 4 7044539 7044539 + Missense_Mutation SNP G T g.chr4:7044539G>T c.127C>A p.L43M TCGA-4G-AAZT-01A-11D-A417-09 CCK 3 42304951 42304951 + Missense_Mutation SNP G T g.chr3:42304951G>T c.172C>A p.L58M TCGA-ZH-A8Y6-01A-11D-A417-09 CCL26 7 75401265 75401265 + Missense_Mutation SNP A G g.chr7:75401265A>G c.130T>C p.W44R TCGA-4G-AAZO-01A-12D-A417-09 CCNA2 4 122739257 122739257 + Missense_Mutation SNP A G g.chr4:122739257A>G c.1192T>C p.Y398H TCGA-4G-AAZO-01A-12D-A417-09 CCNB3 23 50085219 50085219 + Missense_Mutation SNP C T g.chrX:50085219C>T c.3535C>T p.H1179Y TCGA-W6-AA0S-01A-11D-A417-09 CCNH 5 86703897 86703897 + Missense_Mutation SNP C T g.chr5:86703897C>T c.421G>A p.E141K TCGA-W5-AA30-01A-31D-A417-09 CCNL2 1 1326205 1326205 + Missense_Mutation SNP G A g.chr1:1326205G>A c.700C>T p.R234W TCGA-W5-AA2X-01A-11D-A417-09 CCNT2 2 135711353 135711353 + Missense_Mutation SNP G T g.chr2:135711353G>T c.1328G>T p.R443L TCGA-W5-AA2Q-01A-11D-A417-09 CCR1 3 46245105 46245105 + Missense_Mutation SNP T C g.chr3:46245105T>C c.700A>G p.K234E TCGA-W5-AA2Q-01A-11D-A417-09 CCT4 2 62100224 62100224 + Silent SNP A T g.chr2:62100224A>T c.1038T>A p.A346A TCGA-W5-AA39-01A-11D-A417-09 CCT6A 7 56119584 56119584 + Silent SNP C A g.chr7:56119584C>A c.43C>A p.R15R TCGA-4G-AAZO-01A-12D-A417-09 CCT8L2 22 17072592 17072592 + Silent SNP G T g.chr22:17072592G>T c.849C>A p.G283G TCGA-W5-AA33-01A-11D-A417-09 CD109 6 74492445 74492445 + Missense_Mutation SNP C A g.chr6:74492445C>A c.2072C>A p.P691Q TCGA-4G-AAZO-01A-12D-A417-09 CD163L1 12 7519849 7519849 + Missense_Mutation SNP T C g.chr12:7519849T>C c.4262A>G p.H1421R TCGA-W5-AA2U-01A-11D-A417-09 CD1D 1 158152690 158152690 + Silent SNP C T g.chr1:158152690C>T c.630C>T p.S210S TCGA-ZH-A8Y1-01A-11D-A417-09 CD22 19 35832642 35832642 + Silent SNP G T g.chr19:35832642G>T c.1809G>T p.G603G TCGA-ZH-A8Y8-01A-51D-A417-09 CD300C 17 72540765 72540765 + Missense_Mutation SNP T A g.chr17:72540765T>A c.383A>T p.E128V TCGA-W5-AA2I-01A-32D-A417-09 CD36 7 80302680 80302680 + Missense_Mutation SNP G T g.chr7:80302680G>T c.1209G>T p.K403N TCGA-W5-AA31-01A-11D-A417-09 CD59 11 33731761 33731761 + Missense_Mutation SNP G A g.chr11:33731761G>A c.298C>T p.L100F TCGA-3X-AAVC-01A-21D-A417-09 CD5L 1 157803043 157803043 + Missense_Mutation SNP C A g.chr1:157803043C>A c.978G>T p.Q326H TCGA-ZH-A8Y8-01A-51D-A417-09 CD6 11 60780933 60780933 + Silent SNP C A g.chr11:60780933C>A c.1189C>A p.R397R TCGA-W5-AA2G-01A-11D-A417-09 CD72 9 35615948 35615948 + Missense_Mutation SNP C T g.chr9:35615948C>T c.680G>A p.G227D TCGA-W5-AA33-01A-11D-A417-09 CD81 11 2416708 2416708 + Silent SNP C T g.chr11:2416708C>T c.417C>T p.D139D TCGA-W5-AA2I-01A-32D-A417-09 CD96 3 111261150 111261150 + Missense_Mutation SNP G T g.chr3:111261150G>T c.55G>T p.V19F TCGA-W5-AA2G-01A-11D-A417-09 CDAN1 15 43028860 43028860 + Frame_Shift_Del DEL G - g.chr15:43028860delG c.209delC p.P70fs TCGA-W5-AA2O-01A-11D-A417-09 CDC14A 1 100983832 100983832 + Missense_Mutation SNP A G g.chr1:100983832A>G c.1781A>G p.Y594C TCGA-W5-AA39-01A-11D-A417-09 CDC20B 5 54442593 54442593 + Missense_Mutation SNP A C g.chr5:54442593A>C c.218T>G p.I73S TCGA-W5-AA39-01A-11D-A417-09 CDC25C 5 137621497 137621497 + Missense_Mutation SNP G T g.chr5:137621497G>T c.1306C>A p.H436N TCGA-WD-A7RX-01A-12D-A417-09 CDC27 17 45234357 45234357 + Missense_Mutation SNP G T g.chr17:45234357G>T c.764C>A p.S255Y TCGA-3X-AAV9-01A-72D-A417-09 CDC27 17 45232055 45232055 + Missense_Mutation SNP C T g.chr17:45232055C>T c.940G>A p.G314R TCGA-W5-AA2W-01A-11D-A417-09 CDC27 17 45234625 45234625 + Missense_Mutation SNP C T g.chr17:45234625C>T c.601G>A p.V201I TCGA-W5-AA31-01A-11D-A417-09 CDC27 17 45234708 45234708 + Missense_Mutation SNP A G g.chr17:45234708A>G c.518T>C p.L173S TCGA-W5-AA34-01A-11D-A417-09 CDC27 17 45249328 45249328 + Missense_Mutation SNP G A g.chr17:45249328G>A c.206C>T p.P69L TCGA-YR-A95A-01A-12D-A417-09 CDC37L1 9 4684988 4684988 + Missense_Mutation SNP G T g.chr9:4684988G>T c.244G>T p.A82S TCGA-4G-AAZO-01A-12D-A417-09 CDC37L1 9 4685133 4685133 + Missense_Mutation SNP C T g.chr9:4685133C>T c.389C>T p.A130V TCGA-W5-AA2U-01A-11D-A417-09 CDC42BPB 14 103410551 103410551 + Missense_Mutation SNP G A g.chr14:103410551G>A c.4085C>T p.P1362L TCGA-W5-AA39-01A-11D-A417-09 CDC42BPG 11 64597150 64597150 + Missense_Mutation SNP C T g.chr11:64597150C>T c.3760G>A p.E1254K TCGA-ZH-A8Y2-01A-11D-A417-09 CDC42EP1 22 37964736 37964736 + Missense_Mutation SNP A G g.chr22:37964736A>G c.1085A>G p.Q362R TCGA-W5-AA39-01A-11D-A417-09 CDC42EP4 17 71282351 71282351 + Missense_Mutation SNP G A g.chr17:71282351G>A c.289C>T p.R97W TCGA-W5-AA2I-01A-32D-A417-09 CDC73 1 193094241 193094241 + Splice_Site SNP G T g.chr1:193094241G>T TCGA-4G-AAZO-01A-12D-A417-09 CDCA2 8 25364722 25364722 + Missense_Mutation SNP A T g.chr8:25364722A>T c.2540A>T p.N847I TCGA-4G-AAZO-01A-12D-A417-09 CDCA2 8 25317954 25317954 + Missense_Mutation SNP C T g.chr8:25317954C>T c.116C>T p.A39V TCGA-W5-AA2H-01A-31D-A417-09 CDCA7 2 174231093 174231093 + Missense_Mutation SNP G A g.chr2:174231093G>A c.881G>A p.G294D TCGA-W5-AA31-01A-11D-A417-09 CDH1 16 68835581 68835581 + Missense_Mutation SNP G C g.chr16:68835581G>C c.172G>C p.E58Q TCGA-ZH-A8Y8-01A-51D-A417-09 CDH10 5 24488016 24488016 + Missense_Mutation SNP G A g.chr5:24488016G>A c.2123C>T p.T708M TCGA-W5-AA2Q-01A-11D-A417-09 CDH12 5 21842369 21842369 + Missense_Mutation SNP C A g.chr5:21842369C>A c.715G>T p.A239S TCGA-ZU-A8S4-01A-11D-A417-09 CDH13 16 83520260 83520260 + Splice_Site SNP G A g.chr16:83520260G>A c.960G>A p.E320E TCGA-W5-AA33-01A-11D-A417-09 CDH13 16 83816933 83816933 + Missense_Mutation SNP T G g.chr16:83816933T>G c.1990T>G p.S664A TCGA-W5-AA39-01A-11D-A417-09 CDH17 8 95186446 95186446 + Missense_Mutation SNP G A g.chr8:95186446G>A c.467C>T p.P156L TCGA-ZH-A8Y4-01A-11D-A417-09 CDH19 18 64172343 64172343 + Missense_Mutation SNP G T g.chr18:64172343G>T c.2025C>A p.S675R TCGA-W5-AA39-01A-11D-A417-09 CDH2 18 25565702 25565702 + Missense_Mutation SNP C T g.chr18:25565702C>T c.1765G>A p.G589R TCGA-W5-AA39-01A-11D-A417-09 CDH20 18 59174732 59174732 + Missense_Mutation SNP C A g.chr18:59174732C>A c.956C>A p.A319E TCGA-W5-AA33-01A-11D-A417-09 CDH22 20 44879706 44879706 + Silent SNP C A g.chr20:44879706C>A c.228G>T p.T76T TCGA-4G-AAZO-01A-12D-A417-09 CDH23 10 73569791 73569791 + Silent SNP C T g.chr10:73569791C>T c.8952C>T p.L2984L TCGA-W5-AA39-01A-11D-A417-09 CDH23 10 73468897 73468897 + IGR SNP C T g.chr10:73468897C>T TCGA-ZH-A8Y1-01A-11D-A417-09 CDH26 20 58564141 58564141 + Silent SNP T C g.chr20:58564141T>C c.1206T>C p.I402I TCGA-W5-AA2U-01A-11D-A417-09 CDH5 16 66424368 66424368 + Missense_Mutation SNP G T g.chr16:66424368G>T c.844G>T p.V282F TCGA-3X-AAVC-01A-21D-A417-09 CDH5 16 66424338 66424338 + Missense_Mutation SNP C T g.chr16:66424338C>T c.814C>T p.R272C TCGA-ZD-A8I3-01A-11D-A417-09 CDH6 5 31317975 31317975 + Missense_Mutation SNP C T g.chr5:31317975C>T c.1826C>T p.T609M TCGA-W5-AA34-01A-11D-A417-09 CDH7 18 63511084 63511084 + Missense_Mutation SNP C T g.chr18:63511084C>T c.1018C>T p.R340W TCGA-3X-AAVB-01A-31D-A417-09 CDH7 18 63489459 63489459 + Silent SNP C T g.chr18:63489459C>T c.768C>T p.N256N TCGA-ZD-A8I3-01A-11D-A417-09 CDH9 5 26885775 26885775 + Silent SNP G T g.chr5:26885775G>T c.1830C>A p.G610G TCGA-W5-AA2Q-01A-11D-A417-09 CDH9 5 26890641 26890641 + Missense_Mutation SNP C T g.chr5:26890641C>T c.1286G>A p.R429H TCGA-ZD-A8I3-01A-11D-A417-09 CDH9 5 26885928 26885928 + Missense_Mutation SNP G T g.chr5:26885928G>T c.1677C>A p.N559K TCGA-ZH-A8Y1-01A-11D-A417-09 CDHR2 5 176002399 176002399 + Nonsense_Mutation SNP C A g.chr5:176002399C>A c.740C>A p.S247* TCGA-ZH-A8Y2-01A-11D-A417-09 CDIPT 16 29874145 29874145 + Missense_Mutation SNP T C g.chr16:29874145T>C c.34A>G p.N12D TCGA-W5-AA39-01A-11D-A417-09 CDK12 17 37665977 37665977 + Missense_Mutation SNP G T g.chr17:37665977G>T c.2629G>T p.D877Y TCGA-W5-AA2U-01A-11D-A417-09 CDK12 17 37687154 37687154 + Missense_Mutation SNP C T g.chr17:37687154C>T c.4058C>T p.T1353I TCGA-W5-AA39-01A-11D-A417-09 CDK15 2 202672307 202672307 + Missense_Mutation SNP A G g.chr2:202672307A>G c.214A>G p.R72G TCGA-3X-AAV9-01A-72D-A417-09 CDK2 12 56361718 56361718 + Splice_Site SNP A G g.chr12:56361718A>G c.194A>G p.K65R TCGA-W5-AA39-01A-11D-A417-09 CDKL5 23 18622316 18622316 + Missense_Mutation SNP G T g.chrX:18622316G>T c.1272G>T p.K424N TCGA-W5-AA2T-01A-12D-A417-09 CDKL5 23 18638035 18638035 + Missense_Mutation SNP G T g.chrX:18638035G>T c.2325G>T p.E775D TCGA-YR-A95A-01A-12D-A417-09 CDKN1A 6 36652119 36652192 + Frame_Shift_Del DEL GGGCCCCGGCGAGGCCGGGATGAGTTGGGAGGAGGCAGGCGGCCTGGCACCTCACCTGCTCTGCTGCAGGGGAC - g.chr6:36652119_36652192delGGGCCCCGGCGAGGCCGGGATGAGTTGGGAGGAGGCAGGCGGCCTGGCACCTCACCTGCTCTGCTGCAGGGGAC c.241_314delGGGCCCCGGCGAGGCCGGGATGAGTTGGGAGGAGGCAGGCGGCCTGGCACCTCACCTGCTCTGCTGCAGGGGAC p.GPRRGRDELGGGRRPGTSPALLQGT81fs TCGA-W5-AA39-01A-11D-A417-09 CDKN2A 9 21971003 21971003 + Missense_Mutation SNP C G g.chr9:21971003C>G c.355G>C p.E119Q TCGA-3X-AAVE-01A-11D-A417-09 CDKN2A 9 21971108 21971108 + Missense_Mutation SNP C A g.chr9:21971108C>A c.250G>T p.D84Y TCGA-ZD-A8I3-01A-11D-A417-09 CDR2L 17 72997553 72997553 + Missense_Mutation SNP G C g.chr17:72997553G>C c.310G>C p.E104Q TCGA-W5-AA39-01A-11D-A417-09 CDX4 23 72674415 72674415 + Silent SNP C T g.chrX:72674415C>T c.849C>T p.S283S TCGA-ZD-A8I3-01A-11D-A417-09 CEACAM1 19 43031434 43031434 + Missense_Mutation SNP T A g.chr19:43031434T>A c.183A>T p.Q61H TCGA-W5-AA39-01A-11D-A417-09 CEACAM5 19 42222257 42222257 + Missense_Mutation SNP C T g.chr19:42222257C>T c.1448C>T p.A483V TCGA-3X-AAVB-01A-31D-A417-09 CECR2 22 18016909 18016909 + Missense_Mutation SNP A G g.chr22:18016909A>G c.737A>G p.K246R TCGA-W5-AA38-01A-11D-A417-09 CEL 9 135947131 135947131 + Missense_Mutation SNP C A g.chr9:135947131C>A c.2251C>A p.P751T TCGA-3X-AAV9-01A-72D-A417-09 CELA2B 1 15802636 15802636 + Silent SNP C T g.chr1:15802636C>T c.16C>T p.L6L TCGA-WD-A7RX-01A-12D-A417-09 CELF3 1 151687099 151687099 + Missense_Mutation SNP C T g.chr1:151687099C>T c.199G>A p.A67T TCGA-W5-AA39-01A-11D-A417-09 CELF4 18 34853025 34853025 + Silent SNP G A g.chr18:34853025G>A c.903C>T p.A301A TCGA-W5-AA30-01A-31D-A417-09 CELF5 19 3281207 3281207 + Missense_Mutation SNP C A g.chr19:3281207C>A c.614C>A p.S205Y TCGA-4G-AAZO-01A-12D-A417-09 CELF6 15 72582500 72582500 + Missense_Mutation SNP G A g.chr15:72582500G>A c.491C>T p.T164M TCGA-W5-AA34-01A-11D-A417-09 CELSR2 1 109792751 109792751 + Missense_Mutation SNP T C g.chr1:109792751T>C c.50T>C p.L17P TCGA-4G-AAZO-01A-12D-A417-09 CELSR2 1 109813581 109813581 + Missense_Mutation SNP G T g.chr1:109813581G>T c.7516G>T p.G2506W TCGA-W5-AA2Z-01A-11D-A417-09 CENPB 20 3765895 3765895 + Silent SNP C T g.chr20:3765895C>T c.1236G>A p.E412E TCGA-ZH-A8Y2-01A-11D-A417-09 CENPC1 4 68396538 68396538 + Missense_Mutation SNP C T g.chr4:68396538C>T c.326G>A p.R109K TCGA-ZH-A8Y5-01A-11D-A417-09 CENPE 4 104032141 104032141 + Missense_Mutation SNP G T g.chr4:104032141G>T c.7568C>A p.P2523H TCGA-ZH-A8Y5-01A-11D-A417-09 CENPF 1 214820276 214820276 + Missense_Mutation SNP G A g.chr1:214820276G>A c.7363G>A p.A2455T TCGA-4G-AAZO-01A-12D-A417-09 CENPF 1 214818019 214818019 + Silent SNP C A g.chr1:214818019C>A c.5106C>A p.L1702L TCGA-ZH-A8Y5-01A-11D-A417-09 CEP110 9 123937475 123937475 + Silent SNP A T g.chr9:123937475A>T c.6927A>T p.T2309T TCGA-W5-AA39-01A-11D-A417-09 CEP152 15 49030571 49030571 + Missense_Mutation SNP C A g.chr15:49030571C>A c.5008G>T p.D1670Y TCGA-ZH-A8Y4-01A-11D-A417-09 CEP250 20 34091510 34091510 + Silent SNP C T g.chr20:34091510C>T c.5313C>T p.L1771L TCGA-ZH-A8Y6-01A-11D-A417-09 CEP290 12 88530507 88530507 + Nonsense_Mutation SNP G T g.chr12:88530507G>T c.354C>A p.C118* TCGA-W5-AA31-01A-11D-A417-09 CEP350 1 179983051 179983051 + Missense_Mutation SNP C T g.chr1:179983051C>T c.1463C>T p.S488L TCGA-W5-AA2I-01A-32D-A417-09 CEP350 1 180023000 180023000 + Missense_Mutation SNP T C g.chr1:180023000T>C c.5105T>C p.L1702P TCGA-W5-AA39-01A-11D-A417-09 CEP68 2 65299502 65299502 + Silent SNP G A g.chr2:65299502G>A c.1272G>A p.R424R TCGA-W5-AA39-01A-11D-A417-09 CEP68 2 65309725 65309725 + Silent SNP C T g.chr2:65309725C>T c.2160C>T p.H720H TCGA-W6-AA0S-01A-11D-A417-09 CEP68 2 65305018 65305018 + Missense_Mutation SNP T C g.chr2:65305018T>C c.2024T>C p.I675T TCGA-ZH-A8Y8-01A-51D-A417-09 CEP97 3 101451412 101451412 + Silent SNP C A g.chr3:101451412C>A c.642C>A p.I214I TCGA-W5-AA2I-01A-32D-A417-09 CES7 16 55880742 55880742 + Silent SNP C A g.chr16:55880742C>A c.1434G>T p.T478T TCGA-ZH-A8Y6-01A-11D-A417-09 CFDP1 16 75339062 75339062 + Silent SNP G T g.chr16:75339062G>T c.669C>A p.G223G TCGA-W5-AA30-01A-31D-A417-09 CFHR3 1 196759347 196759347 + Silent SNP A T g.chr1:196759347A>T c.786A>T p.P262P TCGA-YR-A95A-01A-12D-A417-09 CFI 4 110663684 110663684 + Silent SNP G A g.chr4:110663684G>A c.1497C>T p.Y499Y TCGA-W5-AA38-01A-11D-A417-09 CFP 23 47487614 47487614 + Missense_Mutation SNP G T g.chrX:47487614G>T c.290C>A p.S97Y TCGA-4G-AAZO-01A-12D-A417-09 CFTR 7 117232262 117232262 + Nonsense_Mutation SNP G T g.chr7:117232262G>T c.2041G>T p.E681* TCGA-W5-AA2U-01A-11D-A417-09 CGGBP1 3 88104670 88104670 + Missense_Mutation SNP C T g.chr3:88104670C>T c.457G>A p.D153N TCGA-W5-AA2X-01A-11D-A417-09 CGGBP1 3 88104763 88104763 + Missense_Mutation SNP C T g.chr3:88104763C>T c.364G>A p.D122N TCGA-W5-AA2X-01A-11D-A417-09 CHAF1A 19 4442934 4442934 + Missense_Mutation SNP C T g.chr19:4442934C>T c.2783C>T p.P928L TCGA-W5-AA39-01A-11D-A417-09 CHD1 5 98192174 98192174 + Missense_Mutation SNP C A g.chr5:98192174C>A c.5043G>T p.Q1681H TCGA-4G-AAZO-01A-12D-A417-09 CHD1 5 98240741 98240741 + Missense_Mutation SNP T C g.chr5:98240741T>C c.115A>G p.S39G TCGA-W5-AA39-01A-11D-A417-09 CHD1L 1 146751820 146751820 + Missense_Mutation SNP C T g.chr1:146751820C>T c.1661C>T p.A554V TCGA-YR-A95A-01A-12D-A417-09 CHD1L 1 146724303 146724303 + Silent SNP G T g.chr1:146724303G>T c.153G>T p.L51L TCGA-ZH-A8Y4-01A-11D-A417-09 CHD2 15 93552420 93552420 + Missense_Mutation SNP G T g.chr15:93552420G>T c.4459G>T p.D1487Y TCGA-3X-AAVB-01A-31D-A417-09 CHD3 17 7798770 7798770 + Silent SNP C T g.chr17:7798770C>T c.1617C>T p.P539P TCGA-W5-AA31-01A-11D-A417-09 CHD4 12 6680126 6680126 + Missense_Mutation SNP C T g.chr12:6680126C>T c.5630G>A p.R1877Q TCGA-W5-AA2G-01A-11D-A417-09 CHD5 1 6188616 6188616 + Missense_Mutation SNP A G g.chr1:6188616A>G c.3673T>C p.S1225P TCGA-W5-AA2W-01A-11D-A417-09 CHD5 1 6194805 6194805 + Missense_Mutation SNP G T g.chr1:6194805G>T c.2985C>A p.H995Q TCGA-WD-A7RX-01A-12D-A417-09 CHD6 20 40161871 40161871 + Silent SNP C T g.chr20:40161871C>T c.372G>A p.P124P TCGA-4G-AAZT-01A-11D-A417-09 CHD7 8 61728947 61728951 + Splice_Site DEL TCTTA - g.chr8:61728947_61728951delTCTTA c.2500_2504delTCTTA p.SY834fs TCGA-W5-AA2W-01A-11D-A417-09 CHD7 8 61734399 61734399 + Silent SNP C T g.chr8:61734399C>T c.2748C>T p.S916S TCGA-W5-AA2X-01A-11D-A417-09 CHD7 8 61654449 61654449 + Missense_Mutation SNP C A g.chr8:61654449C>A c.458C>A p.P153Q TCGA-W5-AA34-01A-11D-A417-09 CHD7 8 61713037 61713037 + Missense_Mutation SNP G A g.chr8:61713037G>A c.2329G>A p.A777T TCGA-W5-AA39-01A-11D-A417-09 CHD8 14 21896185 21896185 + Silent SNP G T g.chr14:21896185G>T c.1444C>A p.R482R TCGA-W5-AA39-01A-11D-A417-09 CHD9 16 53191285 53191285 + Silent SNP A G g.chr16:53191285A>G c.1284A>G p.S428S TCGA-ZD-A8I3-01A-11D-A417-09 CHEK1 11 125514458 125514458 + Missense_Mutation SNP G T g.chr11:125514458G>T c.1153G>T p.D385Y TCGA-W5-AA30-01A-31D-A417-09 CHEK2 22 29083913 29083913 + Missense_Mutation SNP C T g.chr22:29083913C>T c.1604G>A p.R535H TCGA-3X-AAVA-01A-11D-A417-09 CHEK2 22 29130501 29130501 + Missense_Mutation SNP T C g.chr22:29130501T>C c.209A>G p.E70G TCGA-W5-AA39-01A-11D-A417-09 CHFR 12 133428224 133428224 + Missense_Mutation SNP G T g.chr12:133428224G>T c.1508C>A p.P503Q TCGA-W5-AA34-01A-11D-A417-09 CHGB 20 5903817 5903817 + Nonsense_Mutation SNP G T g.chr20:5903817G>T c.1027G>T p.E343* TCGA-W5-AA2X-01A-11D-A417-09 CHI3L1 1 203148988 203148988 + Silent SNP G A g.chr1:203148988G>A c.912C>T p.R304R TCGA-W5-AA2I-01A-32D-A417-09 CHIA 1 111854340 111854340 + Splice_Site SNP G T g.chr1:111854340G>T c.55G>T p.G19C TCGA-ZD-A8I3-01A-11D-A417-09 CHID1 11 884165 884165 + Missense_Mutation SNP C A g.chr11:884165C>A c.706G>T p.D236Y TCGA-3X-AAV9-01A-72D-A417-09 CHL1 3 440009 440009 + Missense_Mutation SNP C G g.chr3:440009C>G c.3194C>G p.T1065S TCGA-4G-AAZT-01A-11D-A417-09 CHL1 3 383704 383704 + Silent SNP T G g.chr3:383704T>G c.618T>G p.A206A TCGA-W5-AA2U-01A-11D-A417-09 CHMP1A 16 89712424 89712425 + 3'UTR INS - CCTT g.chr16:89712424_89712425insCCTT TCGA-3X-AAVE-01A-11D-A417-09 CHRM2 7 136699781 136699781 + Missense_Mutation SNP G A g.chr7:136699781G>A c.169G>A p.V57I TCGA-W5-AA2T-01A-12D-A417-09 CHRM2 7 136700368 136700368 + Silent SNP C T g.chr7:136700368C>T c.756C>T p.D252D TCGA-W5-AA39-01A-11D-A417-09 CHRM3 1 240070932 240070932 + Missense_Mutation SNP G A g.chr1:240070932G>A c.181G>A p.G61R TCGA-3X-AAVC-01A-21D-A417-09 CHRM3 1 240072089 240072089 + Silent SNP A C g.chr1:240072089A>C c.1338A>C p.S446S TCGA-W5-AA2T-01A-12D-A417-09 CHRNA5 15 78882199 78882199 + Missense_Mutation SNP G T g.chr15:78882199G>T c.466G>T p.G156C TCGA-W5-AA2X-01A-11D-A417-09 CHRNB1 17 7357773 7357773 + Silent SNP T C g.chr17:7357773T>C c.978T>C p.S326S TCGA-3X-AAV9-01A-72D-A417-09 CHRNG 2 233408058 233408058 + Missense_Mutation SNP G T g.chr2:233408058G>T c.879G>T p.K293N TCGA-4G-AAZO-01A-12D-A417-09 CHST2 3 142840192 142840192 + Silent SNP G A g.chr3:142840192G>A c.534G>A p.S178S TCGA-W5-AA2Z-01A-11D-A417-09 CHST4 16 71571735 71571735 + Silent SNP C A g.chr16:71571735C>A c.1155C>A p.I385I TCGA-ZH-A8Y6-01A-11D-A417-09 CHTF18 16 845949 845949 + Silent SNP G A g.chr16:845949G>A c.2328G>A p.V776V TCGA-ZH-A8Y2-01A-11D-A417-09 CIAO1 2 96933103 96933103 + 5'Flank SNP C A g.chr2:96933103C>A TCGA-ZH-A8Y8-01A-51D-A417-09 CIDEB 14 24777048 24777048 + Missense_Mutation SNP G T g.chr14:24777048G>T c.17C>A p.A6D TCGA-W5-AA39-01A-11D-A417-09 CIITA 16 11001930 11001930 + Missense_Mutation SNP C A g.chr16:11001930C>A c.2581C>A p.L861M TCGA-4G-AAZO-01A-12D-A417-09 CILP 15 65489606 65489606 + Silent SNP C A g.chr15:65489606C>A c.3018G>T p.L1006L TCGA-4G-AAZO-01A-12D-A417-09 CIT 12 120135559 120135559 + Silent SNP G T g.chr12:120135559G>T c.5661C>A p.S1887S TCGA-4G-AAZO-01A-12D-A417-09 CIT 12 120172046 120172046 + Silent SNP G A g.chr12:120172046G>A c.3147C>T p.V1049V TCGA-ZD-A8I3-01A-11D-A417-09 CIT 12 120139737 120139737 + Missense_Mutation SNP G T g.chr12:120139737G>T c.5205C>A p.S1735R TCGA-ZU-A8S4-01A-11D-A417-09 CKAP2L 2 113513554 113513554 + Splice_Site SNP C T g.chr2:113513554C>T c.1394G>A p.R465K TCGA-4G-AAZO-01A-12D-A417-09 CKAP4 12 106633701 106633701 + Nonsense_Mutation SNP C A g.chr12:106633701C>A c.910G>T p.E304* TCGA-ZH-A8Y2-01A-11D-A417-09 CKAP5 11 46780475 46780475 + Missense_Mutation SNP G T g.chr11:46780475G>T c.4687C>A p.Q1563K TCGA-W5-AA2Q-01A-11D-A417-09 CKLF 16 66597060 66597060 + Missense_Mutation SNP G T g.chr16:66597060G>T c.273G>T p.M91I TCGA-W5-AA2X-01A-11D-A417-09 CKS1B 1 154950570 154950570 + Missense_Mutation SNP A T g.chr1:154950570A>T c.167A>T p.H56L TCGA-3X-AAVB-01A-31D-A417-09 CLASP2 3 33592749 33592749 + Silent SNP G T g.chr3:33592749G>T c.3172C>A p.R1058R TCGA-W5-AA2Q-01A-11D-A417-09 CLCA2 1 86913194 86913194 + Missense_Mutation SNP G T g.chr1:86913194G>T c.1717G>T p.G573W TCGA-3X-AAV9-01A-72D-A417-09 CLCC1 1 109493041 109493041 + Missense_Mutation SNP G T g.chr1:109493041G>T c.19C>A p.L7I TCGA-W5-AA2H-01A-31D-A417-09 CLCN4 23 10176631 10176631 + Splice_Site SNP G A g.chrX:10176631G>A TCGA-W5-AA2U-01A-11D-A417-09 CLCN5 23 49840560 49840560 + Nonsense_Mutation SNP G T g.chrX:49840560G>T c.316G>T p.E106* TCGA-W5-AA2U-01A-11D-A417-09 CLCN5 23 49851058 49851058 + Missense_Mutation SNP G A g.chrX:49851058G>A c.878G>A p.R293H TCGA-W6-AA0S-01A-11D-A417-09 CLCN6 1 11897068 11897068 + Missense_Mutation SNP C G g.chr1:11897068C>G c.1993C>G p.L665V TCGA-ZH-A8Y4-01A-11D-A417-09 CLCNKB 1 16383402 16383402 + Silent SNP C T g.chr1:16383402C>T c.2055C>T p.A685A TCGA-W5-AA2O-01A-11D-A417-09 CLDN1 3 190030784 190030784 + Missense_Mutation SNP G T g.chr3:190030784G>T c.265C>A p.L89I TCGA-W5-AA39-01A-11D-A417-09 CLDN16 3 190106072 190106072 + Missense_Mutation SNP G A g.chr3:190106072G>A c.164G>A p.R55K TCGA-3X-AAV9-01A-72D-A417-09 CLDN16 3 190106072 190106072 + Missense_Mutation SNP G T g.chr3:190106072G>T c.164G>T p.R55M TCGA-W5-AA30-01A-31D-A417-09 CLDN7 17 7164180 7164180 + Silent SNP G A g.chr17:7164180G>A c.348C>T p.A116A TCGA-ZH-A8Y8-01A-51D-A417-09 CLEC10A 17 6979444 6979444 + Missense_Mutation SNP G A g.chr17:6979444G>A c.380C>T p.T127M TCGA-3X-AAVA-01A-11D-A417-09 CLEC14A 14 38724339 38724339 + Missense_Mutation SNP C T g.chr14:38724339C>T c.889G>A p.G297R TCGA-W5-AA38-01A-11D-A417-09 CLEC2L 7 139225079 139225079 + Missense_Mutation SNP G A g.chr7:139225079G>A c.278G>A p.C93Y TCGA-W5-AA30-01A-31D-A417-09 CLGN 4 141321605 141321605 + Silent SNP G T g.chr4:141321605G>T c.600C>A p.P200P TCGA-W5-AA2O-01A-11D-A417-09 CLIP4 2 29366790 29366792 + In_Frame_Del DEL TGT - g.chr2:29366790_29366792delTGT c.864_866delTGT p.V290del TCGA-W5-AA2U-01A-11D-A417-09 CLIP4 2 29380187 29380187 + Missense_Mutation SNP C A g.chr2:29380187C>A c.1373C>A p.P458H TCGA-W5-AA31-01A-11D-A417-09 CLIP4 2 29397281 29397281 + Missense_Mutation SNP A G g.chr2:29397281A>G c.1766A>G p.K589R TCGA-W5-AA33-01A-11D-A417-09 CLIP4 2 29404628 29404628 + Nonsense_Mutation SNP G T g.chr2:29404628G>T c.1987G>T p.G663* TCGA-ZH-A8Y5-01A-11D-A417-09 CLK1 2 201718691 201718691 + Silent SNP G T g.chr2:201718691G>T c.1246C>A p.R416R TCGA-W5-AA31-01A-11D-A417-09 CLK3 15 74922183 74922183 + Nonsense_Mutation SNP G T g.chr15:74922183G>T c.1876G>T p.E626* TCGA-W5-AA31-01A-11D-A417-09 CLNK 4 10560060 10560060 + Missense_Mutation SNP G T g.chr4:10560060G>T c.416C>A p.S139Y TCGA-3X-AAV9-01A-72D-A417-09 CLNS1A 11 77336767 77336767 + Nonsense_Mutation SNP G T g.chr11:77336767G>T c.359C>A p.S120* TCGA-W5-AA2T-01A-12D-A417-09 CLPX 15 65447200 65447212 + Frame_Shift_Del DEL CATCTAGGCTATG - g.chr15:65447200_65447212delCATCTAGGCTATG c.1519_1531delCATAGCCTAGATG p.HSLDE507fs TCGA-W5-AA39-01A-11D-A417-09 CLRN1 3 150690293 150690293 + Missense_Mutation SNP C T g.chr3:150690293C>T c.203G>A p.G68E TCGA-ZH-A8Y5-01A-11D-A417-09 CLRN3 10 129676685 129676685 + Splice_Site SNP C T g.chr10:129676685C>T TCGA-W5-AA38-01A-11D-A417-09 CLSTN1 1 9811620 9811620 + Missense_Mutation SNP G A g.chr1:9811620G>A c.560C>T p.A187V TCGA-3X-AAVC-01A-21D-A417-09 CLSTN2 3 140178551 140178551 + Missense_Mutation SNP G T g.chr3:140178551G>T c.1162G>T p.G388C TCGA-W5-AA38-01A-11D-A417-09 CLTCL1 22 19226799 19226799 + Splice_Site SNP T A g.chr22:19226799T>A c.794A>T p.Q265L TCGA-4G-AAZO-01A-12D-A417-09 CLTCL1 22 19213069 19213069 + Missense_Mutation SNP G T g.chr22:19213069G>T c.2035C>A p.L679I TCGA-4G-AAZT-01A-11D-A417-09 CMA1 14 24974805 24974805 + Missense_Mutation SNP G A g.chr14:24974805G>A c.661C>T p.R221W TCGA-W5-AA33-01A-11D-A417-09 CMBL 5 10290721 10290724 + Frame_Shift_Del DEL ATAT - g.chr5:10290721_10290724delATAT c.151_154delATAT p.IF51fs TCGA-W5-AA2X-01A-11D-A417-09 CNDP1 18 72251796 72251796 + Nonstop_Mutation SNP T A g.chr18:72251796T>A c.1522T>A p.*508K TCGA-W5-AA33-01A-11D-A417-09 CNGA1 4 47939627 47939627 + Missense_Mutation SNP G T g.chr4:47939627G>T c.884C>A p.P295Q TCGA-W5-AA2Q-01A-11D-A417-09 CNKSR2 23 21534642 21534642 + Missense_Mutation SNP G C g.chrX:21534642G>C c.850G>C p.E284Q TCGA-4G-AAZT-01A-11D-A417-09 CNN3 1 95364930 95364930 + Silent SNP G A g.chr1:95364930G>A c.645C>T p.S215S TCGA-W5-AA2I-01A-32D-A417-09 CNN3 1 95368702 95368706 + Frame_Shift_Del DEL GTTGA - g.chr1:95368702_95368706delGTTGA c.218_222delTCAAC p.VN73fs TCGA-W5-AA39-01A-11D-A417-09 CNN3 1 95368708 95368712 + Frame_Shift_Del DEL CTTCT - g.chr1:95368708_95368712delCTTCT c.212_216delAGAAG p.KK71fs TCGA-W5-AA39-01A-11D-A417-09 CNN3 1 95368720 95368720 + Frame_Shift_Del DEL G - g.chr1:95368720delG c.204delC p.G68fs TCGA-W5-AA39-01A-11D-A417-09 CNN3 1 95368727 95368727 + Missense_Mutation SNP T C g.chr1:95368727T>C c.197A>G p.Q66R TCGA-W5-AA39-01A-11D-A417-09 CNOT2 12 70735907 70735907 + Missense_Mutation SNP C T g.chr12:70735907C>T c.1199C>T p.A400V TCGA-4G-AAZO-01A-12D-A417-09 CNOT3 19 54649452 54649452 + Missense_Mutation SNP G A g.chr19:54649452G>A c.602G>A p.R201H TCGA-3X-AAVC-01A-21D-A417-09 CNTFR 9 34557626 34557626 + Missense_Mutation SNP A G g.chr9:34557626A>G c.502T>C p.Y168H TCGA-ZH-A8Y4-01A-11D-A417-09 CNTLN 9 17273829 17273829 + Missense_Mutation SNP A C g.chr9:17273829A>C c.948A>C p.E316D TCGA-W5-AA39-01A-11D-A417-09 CNTLN 9 17273832 17273832 + Silent SNP T C g.chr9:17273832T>C c.951T>C p.L317L TCGA-W5-AA39-01A-11D-A417-09 CNTN2 1 205027755 205027755 + Missense_Mutation SNP G T g.chr1:205027755G>T c.451G>T p.V151L TCGA-W5-AA2G-01A-11D-A417-09 CNTN2 1 205027329 205027329 + Missense_Mutation SNP A T g.chr1:205027329A>T c.236A>T p.E79V TCGA-W5-AA39-01A-11D-A417-09 CNTN4 3 3072560 3072560 + Missense_Mutation SNP A G g.chr3:3072560A>G c.1684A>G p.M562V TCGA-W5-AA2Z-01A-11D-A417-09 CNTN5 11 100095501 100095501 + Silent SNP C A g.chr11:100095501C>A c.1962C>A p.T654T TCGA-W5-AA30-01A-31D-A417-09 CNTN6 3 1427411 1427411 + Silent SNP C T g.chr3:1427411C>T c.2634C>T p.S878S TCGA-ZH-A8Y1-01A-11D-A417-09 CNTNAP2 7 147964169 147964169 + Silent SNP C T g.chr7:147964169C>T c.3426C>T p.S1142S TCGA-W5-AA2O-01A-11D-A417-09 CNTNAP3 9 39176053 39176053 + Missense_Mutation SNP G A g.chr9:39176053G>A c.964C>T p.R322W TCGA-W5-AA2R-01A-11D-A417-09 CNTNAP4 16 76486447 76486447 + Missense_Mutation SNP G T g.chr16:76486447G>T c.1123G>T p.V375L TCGA-ZH-A8Y4-01A-11D-A417-09 CNTNAP5 2 125320826 125320826 + Frame_Shift_Del DEL G - g.chr2:125320826delG c.1679delG p.S560fs TCGA-4G-AAZO-01A-12D-A417-09 CNTNAP5 2 125175026 125175026 + Missense_Mutation SNP G T g.chr2:125175026G>T c.388G>T p.A130S TCGA-W5-AA33-01A-11D-A417-09 CNTROB 17 7840511 7840511 + Silent SNP T G g.chr17:7840511T>G c.858T>G p.S286S TCGA-W5-AA39-01A-11D-A417-09 COG1 17 71192846 71192846 + Silent SNP G A g.chr17:71192846G>A c.516G>A p.R172R TCGA-ZH-A8Y1-01A-11D-A417-09 COG7 16 23415150 23415150 + Silent SNP T C g.chr16:23415150T>C c.1668A>G p.K556K TCGA-4G-AAZO-01A-12D-A417-09 COG8 16 69370532 69370532 + Missense_Mutation SNP T A g.chr16:69370532T>A c.461A>T p.E154V TCGA-W5-AA39-01A-11D-A417-09 COL11A1 1 103540202 103540202 + Missense_Mutation SNP G T g.chr1:103540202G>T c.623C>A p.T208K TCGA-4G-AAZO-01A-12D-A417-09 COL11A1 1 103455077 103455077 + Silent SNP G A g.chr1:103455077G>A c.2391C>T p.D797D TCGA-W5-AA2W-01A-11D-A417-09 COL12A1 6 75853032 75853032 + Missense_Mutation SNP G A g.chr6:75853032G>A c.4763C>T p.P1588L TCGA-W5-AA2X-01A-11D-A417-09 COL15A1 9 101801014 101801014 + Splice_Site SNP C T g.chr9:101801014C>T c.2474C>T p.P825L TCGA-WD-A7RX-01A-12D-A417-09 COL17A1 10 105819419 105819419 + Nonsense_Mutation SNP G T g.chr10:105819419G>T c.1199C>A p.S400* TCGA-4G-AAZO-01A-12D-A417-09 COL18A1 21 46932175 46932175 + Missense_Mutation SNP C T g.chr21:46932175C>T c.5128C>T p.R1710W TCGA-4G-AAZO-01A-12D-A417-09 COL20A1 20 61944199 61944199 + Silent SNP C A g.chr20:61944199C>A c.1989C>A p.V663V TCGA-3X-AAVE-01A-11D-A417-09 COL20A1 20 61926534 61926534 + Missense_Mutation SNP A C g.chr20:61926534A>C c.75A>C p.Q25H TCGA-W5-AA39-01A-11D-A417-09 COL21A1 6 56035527 56035527 + Missense_Mutation SNP C T g.chr6:56035527C>T c.946G>A p.V316M TCGA-W5-AA2R-01A-11D-A417-09 COL22A1 8 139705902 139705902 + Missense_Mutation SNP G T g.chr8:139705902G>T c.2741C>A p.A914E TCGA-W5-AA2Q-01A-11D-A417-09 COL22A1 8 139729078 139729078 + Missense_Mutation SNP G T g.chr8:139729078G>T c.2390C>A p.P797H TCGA-W5-AA2W-01A-11D-A417-09 COL22A1 8 139815133 139815133 + Silent SNP C T g.chr8:139815133C>T c.1539G>A p.K513K TCGA-W5-AA39-01A-11D-A417-09 COL24A1 1 86591498 86591498 + Missense_Mutation SNP C G g.chr1:86591498C>G c.521G>C p.S174T TCGA-W5-AA39-01A-11D-A417-09 COL27A1 9 116931158 116931158 + Silent SNP G T g.chr9:116931158G>T c.1323G>T p.R441R TCGA-3X-AAVE-01A-11D-A417-09 COL27A1 9 117070033 117070033 + Missense_Mutation SNP G A g.chr9:117070033G>A c.5192G>A p.C1731Y TCGA-W6-AA0S-01A-11D-A417-09 COL28A1 7 7476074 7476074 + Silent SNP C G g.chr7:7476074C>G c.1812G>C p.G604G TCGA-W5-AA39-01A-11D-A417-09 COL4A1 13 110850904 110850904 + Missense_Mutation SNP G T g.chr13:110850904G>T c.1195C>A p.P399T TCGA-W5-AA2Z-01A-11D-A417-09 COL4A3 2 228118346 228118346 + Missense_Mutation SNP A G g.chr2:228118346A>G c.757A>G p.N253D TCGA-W5-AA39-01A-11D-A417-09 COL4A3 2 228148934 228148934 + Silent SNP T C g.chr2:228148934T>C c.2754T>C p.P918P TCGA-ZH-A8Y8-01A-51D-A417-09 COL4A5 23 107842054 107842054 + Silent SNP A G g.chrX:107842054A>G c.1902A>G p.K634K TCGA-W5-AA2Z-01A-11D-A417-09 COL4A5 23 107909789 107909789 + Missense_Mutation SNP G A g.chrX:107909789G>A c.3518G>A p.G1173D TCGA-W5-AA39-01A-11D-A417-09 COL5A1 9 137582891 137582891 + Silent SNP G A g.chr9:137582891G>A c.243G>A p.A81A TCGA-4G-AAZT-01A-11D-A417-09 COL5A1 9 137710726 137710726 + Silent SNP G A g.chr9:137710726G>A c.4371G>A p.P1457P TCGA-W5-AA2T-01A-12D-A417-09 COL5A1 9 137650127 137650127 + Silent SNP C T g.chr9:137650127C>T c.1920C>T p.G640G TCGA-W5-AA39-01A-11D-A417-09 COL6A1 21 47421295 47421295 + Missense_Mutation SNP G C g.chr21:47421295G>C c.1951G>C p.V651L TCGA-4G-AAZO-01A-12D-A417-09 COL6A3 2 238296453 238296453 + Missense_Mutation SNP T C g.chr2:238296453T>C c.1084A>G p.I362V TCGA-3X-AAVC-01A-21D-A417-09 COL6A3 2 238289918 238289918 + Missense_Mutation SNP G A g.chr2:238289918G>A c.1537C>T p.R513W TCGA-W5-AA2I-01A-32D-A417-09 COL6A3 2 238280843 238280843 + Missense_Mutation SNP C T g.chr2:238280843C>T c.3817G>A p.V1273I TCGA-W5-AA2W-01A-11D-A417-09 COL6A3 2 238283545 238283545 + Missense_Mutation SNP G T g.chr2:238283545G>T c.3189C>A p.D1063E TCGA-ZH-A8Y4-01A-11D-A417-09 COL6A3 2 238268788 238268788 + Silent SNP C T g.chr2:238268788C>T c.6225G>A p.P2075P TCGA-ZH-A8Y8-01A-51D-A417-09 COL6A6 3 130287118 130287118 + Missense_Mutation SNP C A g.chr3:130287118C>A c.2071C>A p.Q691K TCGA-W5-AA2U-01A-11D-A417-09 COL7A1 3 48608557 48608557 + Missense_Mutation SNP G C g.chr3:48608557G>C c.7141C>G p.P2381A TCGA-W5-AA2G-01A-11D-A417-09 COL7A1 3 48625832 48625832 + Missense_Mutation SNP C T g.chr3:48625832C>T c.2593G>A p.E865K TCGA-ZH-A8Y6-01A-11D-A417-09 COL8A2 1 36565684 36565684 + Missense_Mutation SNP G T g.chr1:36565684G>T c.160C>A p.P54T TCGA-W5-AA38-01A-11D-A417-09 COL8A2 1 36565701 36565701 + Missense_Mutation SNP T C g.chr1:36565701T>C c.143A>G p.Q48R TCGA-W5-AA39-01A-11D-A417-09 COL9A1 6 70964698 70964698 + Missense_Mutation SNP G A g.chr6:70964698G>A c.1633C>T p.R545C TCGA-W5-AA2G-01A-11D-A417-09 COMP 19 18901408 18901408 + Silent SNP C T g.chr19:18901408C>T c.180G>A p.T60T TCGA-ZH-A8Y4-01A-11D-A417-09 COPA 1 160263008 160263008 + Missense_Mutation SNP G T g.chr1:160263008G>T c.2771C>A p.S924Y TCGA-W5-AA39-01A-11D-A417-09 COPA 1 160269048 160269048 + Silent SNP G A g.chr1:160269048G>A c.1674C>T p.H558H TCGA-W5-AA39-01A-11D-A417-09 COPB2 3 139097937 139097937 + Missense_Mutation SNP G T g.chr3:139097937G>T c.307C>A p.R103S TCGA-4G-AAZO-01A-12D-A417-09 COPG2 7 130147634 130147634 + IGR SNP G A g.chr7:130147634G>A TCGA-W5-AA39-01A-11D-A417-09 COPS2 15 49420221 49420221 + Nonsense_Mutation SNP G A g.chr15:49420221G>A c.1258C>T p.R420* TCGA-W5-AA31-01A-11D-A417-09 COPS7B 2 232653436 232653436 + Silent SNP G T g.chr2:232653436G>T c.156G>T p.V52V TCGA-3X-AAVB-01A-31D-A417-09 COQ9 16 57486813 57486813 + Missense_Mutation SNP G T g.chr16:57486813G>T c.343G>T p.G115W TCGA-W5-AA2T-01A-12D-A417-09 CORIN 4 47647102 47647102 + Missense_Mutation SNP G T g.chr4:47647102G>T c.1953C>A p.N651K TCGA-W5-AA2Q-01A-11D-A417-09 CORIN 4 47625641 47625641 + Silent SNP G T g.chr4:47625641G>T c.2487C>A p.G829G TCGA-ZU-A8S4-01A-11D-A417-09 COX15 10 101489417 101489417 + Missense_Mutation SNP C A g.chr10:101489417C>A c.165G>T p.R55S TCGA-4G-AAZO-01A-12D-A417-09 CP 3 148894184 148894184 + IGR SNP T C g.chr3:148894184T>C TCGA-W5-AA39-01A-11D-A417-09 CP 3 148899805 148899805 + Silent SNP A C g.chr3:148899805A>C c.2541T>G p.T847T TCGA-W5-AA39-01A-11D-A417-09 CP 3 148896305 148896305 + Missense_Mutation SNP C A g.chr3:148896305C>A c.2775G>T p.E925D TCGA-WD-A7RX-01A-12D-A417-09 CPA6 8 68658284 68658284 + Silent SNP C A g.chr8:68658284C>A c.81G>T p.P27P TCGA-4G-AAZO-01A-12D-A417-09 CPD 17 28772983 28772983 + Missense_Mutation SNP T C g.chr17:28772983T>C c.2818T>C p.S940P TCGA-W5-AA2I-01A-32D-A417-09 CPD 17 28750570 28750570 + Silent SNP G T g.chr17:28750570G>T c.1704G>T p.V568V TCGA-YR-A95A-01A-12D-A417-09 CPLX4 18 56963944 56963944 + Missense_Mutation SNP A T g.chr18:56963944A>T c.469T>A p.C157S TCGA-W5-AA2I-01A-32D-A417-09 CPNE1 20 34218396 34218396 + Missense_Mutation SNP G A g.chr20:34218396G>A c.1067C>T p.A356V TCGA-W5-AA2O-01A-11D-A417-09 CPNE9 3 9746275 9746275 + Missense_Mutation SNP C G g.chr3:9746275C>G c.73C>G p.L25V TCGA-3X-AAVB-01A-31D-A417-09 CPS1 2 211460258 211460258 + Silent SNP G A g.chr2:211460258G>A c.1311G>A p.Q437Q TCGA-3X-AAVC-01A-21D-A417-09 CPS1 2 211464283 211464283 + Missense_Mutation SNP G T g.chr2:211464283G>T c.1547G>T p.C516F TCGA-3X-AAVE-01A-11D-A417-09 CPSF1 8 145618578 145618578 + Silent SNP G A g.chr8:145618578G>A c.4287C>T p.I1429I TCGA-W5-AA39-01A-11D-A417-09 CPSF1 8 145623960 145623960 + Silent SNP G A g.chr8:145623960G>A c.1707C>T p.G569G TCGA-W5-AA39-01A-11D-A417-09 CPT1C 19 50214055 50214055 + Missense_Mutation SNP C T g.chr19:50214055C>T c.1807C>T p.R603W TCGA-4G-AAZT-01A-11D-A417-09 CPVL 7 29111505 29111505 + Missense_Mutation SNP C T g.chr7:29111505C>T c.748G>A p.A250T TCGA-W5-AA2U-01A-11D-A417-09 CPXM1 20 2776024 2776024 + Nonsense_Mutation SNP C A g.chr20:2776024C>A c.1759G>T p.E587* TCGA-W5-AA2O-01A-11D-A417-09 CPXM1 20 2777840 2777840 + Nonsense_Mutation SNP G T g.chr20:2777840G>T c.830C>A p.S277* TCGA-ZH-A8Y2-01A-11D-A417-09 CPXM2 10 125601975 125601975 + Missense_Mutation SNP G T g.chr10:125601975G>T c.543C>A p.D181E TCGA-3X-AAV9-01A-72D-A417-09 CR2 1 207643300 207643300 + Silent SNP C A g.chr1:207643300C>A c.1078C>A p.R360R TCGA-3X-AAVC-01A-21D-A417-09 CR2 1 207649657 207649657 + Missense_Mutation SNP G T g.chr1:207649657G>T c.2618G>T p.G873V TCGA-4G-AAZO-01A-12D-A417-09 CRAT 9 131864315 131864315 + Missense_Mutation SNP G T g.chr9:131864315G>T c.652C>A p.H218N TCGA-W5-AA39-01A-11D-A417-09 CRB1 1 197313409 197313409 + Splice_Site SNP A G g.chr1:197313409A>G TCGA-W5-AA2G-01A-11D-A417-09 CREB3L1 11 46321678 46321678 + Missense_Mutation SNP C A g.chr11:46321678C>A c.295C>A p.P99T TCGA-ZH-A8Y6-01A-11D-A417-09 CREB3L4 1 153946097 153946099 + Splice_Site DEL TTC - g.chr1:153946097_153946099delTTC c.899_901delTTC p.L302del TCGA-W5-AA2R-01A-11D-A417-09 CREM 10 35500212 35500213 + Intron DNP GA CT g.chr10:35500212_35500213GA>CT TCGA-W5-AA39-01A-11D-A417-09 CRKL 22 21304043 21304043 + Missense_Mutation SNP G T g.chr22:21304043G>T c.822G>T p.Q274H TCGA-W5-AA2G-01A-11D-A417-09 CRTAM 11 122726478 122726478 + Missense_Mutation SNP G A g.chr11:122726478G>A c.566G>A p.G189D TCGA-W5-AA2Q-01A-11D-A417-09 CRYZ 1 75172874 75172874 + Missense_Mutation SNP C A g.chr1:75172874C>A c.645G>T p.E215D TCGA-W5-AA30-01A-31D-A417-09 CSDC2 22 41970815 41970815 + Missense_Mutation SNP G T g.chr22:41970815G>T c.378G>T p.K126N TCGA-ZH-A8Y4-01A-11D-A417-09 CSDE1 1 115262239 115262239 + Missense_Mutation SNP C T g.chr1:115262239C>T c.2177G>A p.R726H TCGA-YR-A95A-01A-12D-A417-09 CSE1L 20 47683047 47683047 + Splice_Site SNP G A g.chr20:47683047G>A c.476G>A p.R159K TCGA-W5-AA30-01A-31D-A417-09 CSE1L 20 47712955 47712955 + Missense_Mutation SNP G T g.chr20:47712955G>T c.2896G>T p.A966S TCGA-W5-AA31-01A-11D-A417-09 CSF1 1 110458281 110458281 + Missense_Mutation SNP G A g.chr1:110458281G>A c.188G>A p.C63Y TCGA-4G-AAZO-01A-12D-A417-09 CSF1 1 110456921 110456921 + Missense_Mutation SNP C A g.chr1:110456921C>A c.80C>A p.A27E TCGA-YR-A95A-01A-12D-A417-09 CSF1R 5 149450020 149450020 + Splice_Site SNP T C g.chr5:149450020T>C c.1197A>G p.R399R TCGA-3X-AAV9-01A-72D-A417-09 CSGALNACT2 10 43659315 43659315 + Splice_Site SNP G T g.chr10:43659315G>T c.982G>T p.E328* TCGA-W5-AA2X-01A-11D-A417-09 CSGALNACT2 10 43659419 43659419 + Missense_Mutation SNP G T g.chr10:43659419G>T c.1086G>T p.L362F TCGA-W5-AA38-01A-11D-A417-09 CSH2 17 61949936 61949936 + Splice_Site SNP C T g.chr17:61949936C>T TCGA-WD-A7RX-01A-12D-A417-09 CSMD1 8 3063118 3063118 + Missense_Mutation SNP C T g.chr8:3063118C>T c.4895G>A p.G1632E TCGA-3X-AAVA-01A-11D-A417-09 CSMD1 8 3265726 3265726 + Missense_Mutation SNP G T g.chr8:3265726G>T c.1769C>A p.T590K TCGA-W5-AA30-01A-31D-A417-09 CSMD1 8 2886950 2886950 + Silent SNP A C g.chr8:2886950A>C c.7749T>G p.A2583A TCGA-W5-AA39-01A-11D-A417-09 CSMD1 8 2976042 2976042 + Nonsense_Mutation SNP G C g.chr8:2976042G>C c.6312C>G p.Y2104* TCGA-ZD-A8I3-01A-11D-A417-09 CSMD2 1 33985237 33985237 + Nonsense_Mutation SNP C A g.chr1:33985237C>A c.10777G>T p.E3593* TCGA-3X-AAVA-01A-11D-A417-09 CSMD2 1 34238182 34238182 + Missense_Mutation SNP G A g.chr1:34238182G>A c.658C>T p.P220S TCGA-W5-AA2X-01A-11D-A417-09 CSMD2 1 34285407 34285407 + Missense_Mutation SNP C T g.chr1:34285407C>T c.1231G>A p.E411K TCGA-W5-AA39-01A-11D-A417-09 CSMD3 8 113349922 113349922 + Silent SNP G T g.chr8:113349922G>T c.6691C>A p.R2231R TCGA-W5-AA2G-01A-11D-A417-09 CSMD3 8 113988300 113988300 + Missense_Mutation SNP C T g.chr8:113988300C>T c.1108G>A p.V370I TCGA-ZH-A8Y8-01A-51D-A417-09 CSNK1A1L 13 37678436 37678436 + Missense_Mutation SNP G T g.chr13:37678436G>T c.958C>A p.Q320K TCGA-W5-AA2O-01A-11D-A417-09 CSNK1A1L 13 37679178 37679178 + Silent SNP G T g.chr13:37679178G>T c.216C>A p.G72G TCGA-W5-AA2Q-01A-11D-A417-09 CSPG4 15 75968449 75968449 + Silent SNP G T g.chr15:75968449G>T c.6411C>A p.P2137P TCGA-W5-AA2X-01A-11D-A417-09 CSPG4 15 75968341 75968341 + Silent SNP C T g.chr15:75968341C>T c.6519G>A p.V2173V TCGA-W5-AA39-01A-11D-A417-09 CSPP1 8 68028315 68028315 + Missense_Mutation SNP G T g.chr8:68028315G>T c.1439G>T p.R480L TCGA-W5-AA31-01A-11D-A417-09 CSRP2BP 20 18143422 18143422 + Missense_Mutation SNP A G g.chr20:18143422A>G c.1504A>G p.R502G TCGA-3X-AAVC-01A-21D-A417-09 CSRP3 11 19206570 19206570 + Missense_Mutation SNP C T g.chr11:19206570C>T c.437G>A p.R146H TCGA-W5-AA2U-01A-11D-A417-09 CTCF 16 67650656 67650657 + Frame_Shift_Ins INS - CT g.chr16:67650656_67650657insCT c.961_962insCT p.P321fs TCGA-W5-AA2G-01A-11D-A417-09 CTCFL 20 56099137 56099137 + Missense_Mutation SNP C T g.chr20:56099137C>T c.125G>A p.R42Q TCGA-ZH-A8Y4-01A-11D-A417-09 CTDSPL2 15 44807020 44807020 + Missense_Mutation SNP G T g.chr15:44807020G>T c.1090G>T p.D364Y TCGA-3X-AAVB-01A-31D-A417-09 CTGF 6 132270556 132270556 + Missense_Mutation SNP T G g.chr6:132270556T>G c.898A>C p.T300P TCGA-W5-AA2W-01A-11D-A417-09 CTNNA2 2 80874884 80874884 + Missense_Mutation SNP G T g.chr2:80874884G>T c.2749G>T p.V917L TCGA-W5-AA2X-01A-11D-A417-09 CTNNA2 2 80816537 80816537 + Missense_Mutation SNP G C g.chr2:80816537G>C c.2116G>C p.D706H TCGA-W5-AA30-01A-31D-A417-09 CTNNA2 2 80808879 80808879 + Missense_Mutation SNP G T g.chr2:80808879G>T c.1942G>T p.D648Y TCGA-ZD-A8I3-01A-11D-A417-09 CTNNA3 10 69281681 69281681 + Missense_Mutation SNP G T g.chr10:69281681G>T c.498C>A p.N166K TCGA-W5-AA38-01A-11D-A417-09 CTNNA3 10 68381522 68381522 + Silent SNP G T g.chr10:68381522G>T c.1302C>A p.S434S TCGA-ZH-A8Y4-01A-11D-A417-09 CTNNBL1 20 36396410 36396410 + Silent SNP G A g.chr20:36396410G>A c.714G>A p.Q238Q TCGA-W5-AA30-01A-31D-A417-09 CTNND1 11 57569260 57569260 + Missense_Mutation SNP C T g.chr11:57569260C>T c.1012C>T p.P338S TCGA-W5-AA39-01A-11D-A417-09 CTNND2 5 11199612 11199612 + Silent SNP C T g.chr5:11199612C>T c.1923G>A p.L641L TCGA-ZH-A8Y4-01A-11D-A417-09 CTPS 1 41450520 41450520 + Missense_Mutation SNP G T g.chr1:41450520G>T c.194G>T p.G65V TCGA-4G-AAZO-01A-12D-A417-09 CTR9 11 10794117 10794117 + Missense_Mutation SNP G T g.chr11:10794117G>T c.2495G>T p.R832L TCGA-W5-AA33-01A-11D-A417-09 CTR9 11 10785962 10785962 + Silent SNP T G g.chr11:10785962T>G c.1392T>G p.L464L TCGA-W5-AA39-01A-11D-A417-09 CTR9 11 10789426 10789426 + Missense_Mutation SNP A C g.chr11:10789426A>C c.1760A>C p.K587T TCGA-W5-AA39-01A-11D-A417-09 CTSA 20 44523350 44523350 + Missense_Mutation SNP C A g.chr20:44523350C>A c.839C>A p.P280Q TCGA-4G-AAZO-01A-12D-A417-09 CTSB 8 11704585 11704585 + Missense_Mutation SNP A C g.chr8:11704585A>C c.769T>G p.S257A TCGA-W5-AA39-01A-11D-A417-09 CTSD 11 1776236 1776236 + Missense_Mutation SNP C T g.chr11:1776236C>T c.727G>A p.G243S TCGA-W5-AA34-01A-11D-A417-09 CTSW 11 65647690 65647690 + Silent SNP G A g.chr11:65647690G>A c.105G>A p.P35P TCGA-ZH-A8Y8-01A-51D-A417-09 CTTNBP2NL 1 112999056 112999056 + Silent SNP A G g.chr1:112999056A>G c.942A>G p.T314T TCGA-4G-AAZT-01A-11D-A417-09 CTTNBP2NL 1 112999663 112999663 + Missense_Mutation SNP G T g.chr1:112999663G>T c.1549G>T p.G517W TCGA-W5-AA39-01A-11D-A417-09 CUBN 10 17164817 17164817 + Silent SNP A G g.chr10:17164817A>G c.570T>C p.C190C TCGA-W5-AA2G-01A-11D-A417-09 CUBN 10 16990489 16990489 + Missense_Mutation SNP C T g.chr10:16990489C>T c.5197G>A p.A1733T TCGA-W5-AA34-01A-11D-A417-09 CUBN 10 17113484 17113484 + Missense_Mutation SNP G T g.chr10:17113484G>T c.2566C>A p.L856I TCGA-YR-A95A-01A-12D-A417-09 CUBN 10 17026203 17026203 + Nonsense_Mutation SNP G A g.chr10:17026203G>A c.4426C>T p.Q1476* TCGA-ZH-A8Y5-01A-11D-A417-09 CUL2 10 35327979 35327979 + Missense_Mutation SNP C T g.chr10:35327979C>T c.746G>A p.R249Q TCGA-4G-AAZO-01A-12D-A417-09 CUL7 6 43007936 43007936 + Missense_Mutation SNP G T g.chr6:43007936G>T c.4252C>A p.L1418M TCGA-ZH-A8Y6-01A-11D-A417-09 CUX1 7 101845271 101845271 + Silent SNP C T g.chr7:101845271C>T c.2694C>T p.T898T TCGA-ZH-A8Y1-01A-11D-A417-09 CUX2 12 111747906 111747906 + Silent SNP C A g.chr12:111747906C>A c.1320C>A p.P440P TCGA-W5-AA31-01A-11D-A417-09 CUZD1 10 124594545 124594545 + Silent SNP G A g.chr10:124594545G>A c.1059C>T p.I353I TCGA-ZH-A8Y1-01A-11D-A417-09 CWF19L2 11 107325251 107325251 + Silent SNP T C g.chr11:107325251T>C c.264A>G p.K88K TCGA-ZH-A8Y8-01A-51D-A417-09 CXCR1 2 219029811 219029811 + Missense_Mutation SNP C T g.chr2:219029811C>T c.124G>A p.V42M TCGA-3X-AAV9-01A-72D-A417-09 CXorf1 23 144909307 144909307 + Silent SNP C T g.chrX:144909307C>T c.112C>T p.L38L TCGA-3X-AAVE-01A-11D-A417-09 CXorf57 23 105876175 105876175 + Missense_Mutation SNP G T g.chrX:105876175G>T c.1102G>T p.D368Y TCGA-W5-AA30-01A-31D-A417-09 CYB5R2 11 7686607 7686607 + Nonstop_Mutation SNP A T g.chr11:7686607A>T c.829T>A p.*277K TCGA-WD-A7RX-01A-12D-A417-09 CYBB 23 37653034 37653034 + Missense_Mutation SNP T G g.chrX:37653034T>G c.454T>G p.Y152D TCGA-W5-AA39-01A-11D-A417-09 CYC1 8 145151139 145151139 + Nonsense_Mutation SNP G T g.chr8:145151139G>T c.439G>T p.E147* TCGA-W5-AA39-01A-11D-A417-09 CYFIP1 15 22925822 22925822 + Missense_Mutation SNP G T g.chr15:22925822G>T c.40G>T p.V14L TCGA-3X-AAVA-01A-11D-A417-09 CYFIP1 15 23000152 23000152 + Missense_Mutation SNP G T g.chr15:23000152G>T c.3506G>T p.G1169V TCGA-3X-AAVA-01A-11D-A417-09 CYP11B1 8 143957206 143957206 + Missense_Mutation SNP G T g.chr8:143957206G>T c.1043C>A p.A348E TCGA-W5-AA33-01A-11D-A417-09 CYP20A1 2 204111487 204111487 + Missense_Mutation SNP T G g.chr2:204111487T>G c.132T>G p.N44K TCGA-W5-AA39-01A-11D-A417-09 CYP21A2 6 31975463 31975463 + 5'Flank SNP T C g.chr6:31975463T>C TCGA-W5-AA2O-01A-11D-A417-09 CYP21A2 6 31973481 31973483 + IGR DEL CTG - g.chr6:31973481_31973483delCTG TCGA-W5-AA34-01A-11D-A417-09 CYP21A2 6 31975463 31975463 + 5'Flank SNP T C g.chr6:31975463T>C TCGA-YR-A95A-01A-12D-A417-09 CYP2A6 19 41355849 41355849 + Silent SNP A G g.chr19:41355849A>G c.217T>C p.L73L TCGA-3X-AAVB-01A-31D-A417-09 CYP2D6 22 42526688 42526688 + Missense_Mutation SNP C A g.chr22:42526688C>A c.106G>T p.G36C TCGA-ZH-A8Y4-01A-11D-A417-09 CYP2E1 10 135340926 135340949 + In_Frame_Del DEL CCTGCTGGTGTGGGCGGCCTTCCT - g.chr10:135340926_135340949delCCTGCTGGTGTGGGCGGCCTTCCT c.27_50delCCTGCTGGTGTGGGCGGCCTTCCT p.LLVWAAFL10del TCGA-W5-AA39-01A-11D-A417-09 CYP2F1 19 41628798 41628798 + Silent SNP C T g.chr19:41628798C>T c.894C>T p.G298G TCGA-W5-AA2W-01A-11D-A417-09 CYP2F1 19 41633960 41633960 + Silent SNP T A g.chr19:41633960T>A c.1449T>A p.P483P TCGA-W5-AA39-01A-11D-A417-09 CYP2S1 19 41709463 41709463 + Missense_Mutation SNP G A g.chr19:41709463G>A c.1085G>A p.R362Q TCGA-3X-AAVE-01A-11D-A417-09 CYP3A43 7 99459440 99459440 + Missense_Mutation SNP C T g.chr7:99459440C>T c.1231C>T p.P411S TCGA-3X-AAVC-01A-21D-A417-09 CYP3A43 7 99445221 99445221 + Missense_Mutation SNP G T g.chr7:99445221G>T c.429G>T p.K143N TCGA-W5-AA31-01A-11D-A417-09 CYP3A5 7 99247744 99247744 + Silent SNP T C g.chr7:99247744T>C c.1365A>G p.L455L TCGA-W5-AA39-01A-11D-A417-09 CYP3A5 7 99247826 99247826 + Frame_Shift_Del DEL G - g.chr7:99247826delG c.1283delC p.P428fs TCGA-W5-AA39-01A-11D-A417-09 CYP3A5 7 99247827 99247829 + In_Frame_Del DEL GAT - g.chr7:99247827_99247829delGAT c.1280_1282delATC p.427_428DP>A TCGA-W5-AA39-01A-11D-A417-09 CYP3A5 7 99247829 99247829 + Frame_Shift_Del DEL T - g.chr7:99247829delT c.1280delA p.D427fs TCGA-W5-AA39-01A-11D-A417-09 CYP46A1 14 100158142 100158142 + Missense_Mutation SNP C T g.chr14:100158142C>T c.226C>T p.R76W TCGA-W5-AA33-01A-11D-A417-09 CYP4A11 1 47395907 47395907 + Silent SNP C T g.chr1:47395907C>T c.1440G>A p.L480L TCGA-W5-AA2T-01A-12D-A417-09 CYP4A22 1 47608985 47608985 + Silent SNP C A g.chr1:47608985C>A c.555C>A p.V185V TCGA-W5-AA33-01A-11D-A417-09 CYP4B1 1 47264867 47264867 + Silent SNP G A g.chr1:47264867G>A c.114G>A p.T38T TCGA-4G-AAZT-01A-11D-A417-09 CYP4F22 19 15651396 15651396 + Silent SNP C T g.chr19:15651396C>T c.807C>T p.D269D TCGA-W5-AA39-01A-11D-A417-09 CYP4F3 19 15758064 15758064 + Missense_Mutation SNP C T g.chr19:15758064C>T c.455C>T p.T152M TCGA-3X-AAVE-01A-11D-A417-09 CYP4F3 19 15760954 15760954 + Silent SNP C A g.chr19:15760954C>A c.879C>A p.S293S TCGA-4G-AAZO-01A-12D-A417-09 CYSLTR1 23 77529104 77529104 + Missense_Mutation SNP A G g.chrX:77529104A>G c.140T>C p.V47A TCGA-YR-A95A-01A-12D-A417-09 CYTH3 7 6226714 6226714 + Missense_Mutation SNP C A g.chr7:6226714C>A c.216G>T p.M72I TCGA-4G-AAZO-01A-12D-A417-09 DAB1 1 57480714 57480714 + Missense_Mutation SNP C T g.chr1:57480714C>T c.1385G>A p.R462H TCGA-W5-AA33-01A-11D-A417-09 DAGLB 7 6487440 6487440 + Missense_Mutation SNP C T g.chr7:6487440C>T c.34G>A p.A12T TCGA-3X-AAVB-01A-31D-A417-09 DAK 11 61109333 61109333 + Missense_Mutation SNP G T g.chr11:61109333G>T c.604G>T p.G202C TCGA-4G-AAZO-01A-12D-A417-09 DAPK1 9 90254352 90254352 + Missense_Mutation SNP C G g.chr9:90254352C>G c.507C>G p.D169E TCGA-W5-AA30-01A-31D-A417-09 DAPK1 9 90255340 90255340 + Missense_Mutation SNP A G g.chr9:90255340A>G c.757A>G p.R253G TCGA-W5-AA39-01A-11D-A417-09 DARC 1 159175339 159175339 + Missense_Mutation SNP C T g.chr1:159175339C>T c.110C>T p.P37L TCGA-W5-AA2H-01A-31D-A417-09 DARS 2 136664945 136664945 + Silent SNP A G g.chr2:136664945A>G c.1447T>C p.L483L TCGA-W5-AA33-01A-11D-A417-09 DAXX 6 33289677 33289677 + Missense_Mutation SNP A T g.chr6:33289677A>T c.26T>A p.V9E TCGA-ZD-A8I3-01A-11D-A417-09 DAXX 6 33288173 33288173 + Missense_Mutation SNP G T g.chr6:33288173G>T c.1235C>A p.S412Y TCGA-ZU-A8S4-01A-11D-A417-09 DAZAP1 19 1428934 1428956 + Frame_Shift_Del DEL GCTGCCAATGGCTGGGCAGGCCA - g.chr19:1428934_1428956delGCTGCCAATGGCTGGGCAGGCCA c.640_662delGCTGCCAATGGCTGGGCAGGCCA p.AANGWAGQ214fs TCGA-W5-AA39-01A-11D-A417-09 DAZL 3 16633636 16633636 + Missense_Mutation SNP A G g.chr3:16633636A>G c.755T>C p.I252T TCGA-WD-A7RX-01A-12D-A417-09 DCAF4L2 8 88886183 88886183 + Missense_Mutation SNP G A g.chr8:88886183G>A c.17C>T p.P6L TCGA-W5-AA2I-01A-32D-A417-09 DCAF7 17 61660866 61660866 + Missense_Mutation SNP T C g.chr17:61660866T>C c.532T>C p.Y178H TCGA-W5-AA39-01A-11D-A417-09 DCAF8L2 23 27765742 27765742 + Missense_Mutation SNP G T g.chrX:27765742G>T c.730G>T p.A244S TCGA-4G-AAZO-01A-12D-A417-09 DCBLD1 6 117861861 117861861 + Missense_Mutation SNP C T g.chr6:117861861C>T c.1132C>T p.P378S TCGA-ZH-A8Y1-01A-11D-A417-09 DCHS1 11 6647166 6647166 + Missense_Mutation SNP A T g.chr11:6647166A>T c.6716T>A p.I2239N TCGA-W5-AA30-01A-31D-A417-09 DCHS2 4 155312413 155312413 + Missense_Mutation SNP C A g.chr4:155312413C>A c.37G>T p.D13Y TCGA-ZH-A8Y6-01A-11D-A417-09 DCLK1 13 36686146 36686146 + Missense_Mutation SNP C T g.chr13:36686146C>T c.583G>A p.V195M TCGA-ZD-A8I3-01A-11D-A417-09 DCP1B 12 2062323 2062323 + Silent SNP T C g.chr12:2062323T>C c.783A>G p.Q261Q TCGA-4G-AAZT-01A-11D-A417-09 DCP1B 12 2062323 2062323 + Silent SNP T C g.chr12:2062323T>C c.783A>G p.Q261Q TCGA-W5-AA2X-01A-11D-A417-09 DCP1B 12 2062323 2062323 + Silent SNP T C g.chr12:2062323T>C c.783A>G p.Q261Q TCGA-W5-AA38-01A-11D-A417-09 DCP1B 12 2062353 2062353 + Missense_Mutation SNP G C g.chr12:2062353G>C c.753C>G p.H251Q TCGA-W5-AA38-01A-11D-A417-09 DCP1B 12 2062357 2062357 + Missense_Mutation SNP A T g.chr12:2062357A>T c.749T>A p.L250H TCGA-W5-AA38-01A-11D-A417-09 DCT 13 95131418 95131418 + Missense_Mutation SNP G A g.chr13:95131418G>A c.92C>T p.T31M TCGA-ZH-A8Y6-01A-11D-A417-09 DCUN1D3 16 20871607 20871607 + Frame_Shift_Del DEL T - g.chr16:20871607delT c.516delA p.E172fs TCGA-W5-AA39-01A-11D-A417-09 DCXR 17 79994159 79994159 + Missense_Mutation SNP G T g.chr17:79994159G>T c.539C>A p.T180K TCGA-W5-AA34-01A-11D-A417-09 DDB2 11 47256385 47256385 + Silent SNP A G g.chr11:47256385A>G c.780A>G p.T260T TCGA-W5-AA39-01A-11D-A417-09 DDB2 11 47256429 47256429 + Missense_Mutation SNP T G g.chr11:47256429T>G c.824T>G p.V275G TCGA-W5-AA39-01A-11D-A417-09 DDB2 11 47236765 47236765 + Missense_Mutation SNP T G g.chr11:47236765T>G c.78T>G p.S26R TCGA-ZU-A8S4-01A-11D-A417-09 DDHD1 14 53619480 53619480 + Missense_Mutation SNP T C g.chr14:53619480T>C c.337A>G p.S113G TCGA-4G-AAZO-01A-12D-A417-09 DDHD1 14 53619480 53619480 + Missense_Mutation SNP T C g.chr14:53619480T>C c.337A>G p.S113G TCGA-W5-AA2O-01A-11D-A417-09 DDHD1 14 53619480 53619480 + Missense_Mutation SNP T C g.chr14:53619480T>C c.337A>G p.S113G TCGA-W5-AA2Z-01A-11D-A417-09 DDHD1 14 53619480 53619480 + Missense_Mutation SNP T C g.chr14:53619480T>C c.337A>G p.S113G TCGA-W5-AA33-01A-11D-A417-09 DDHD2 8 38117622 38117622 + Missense_Mutation SNP G T g.chr8:38117622G>T c.2119G>T p.D707Y TCGA-W5-AA2O-01A-11D-A417-09 DDI1 11 103908641 103908641 + Missense_Mutation SNP G T g.chr11:103908641G>T c.1091G>T p.G364V TCGA-ZD-A8I3-01A-11D-A417-09 DDOST 1 20979149 20979149 + Silent SNP G T g.chr1:20979149G>T c.1186C>A p.R396R TCGA-W5-AA2Q-01A-11D-A417-09 DDR1 6 30858814 30858814 + Missense_Mutation SNP C T g.chr6:30858814C>T c.482C>T p.A161V TCGA-W5-AA2U-01A-11D-A417-09 DDR2 1 162737043 162737043 + Missense_Mutation SNP G A g.chr1:162737043G>A c.1187G>A p.S396N TCGA-W5-AA30-01A-31D-A417-09 DDX10 11 108590611 108590611 + Splice_Site SNP C A g.chr11:108590611C>A c.1498C>A p.L500M TCGA-W6-AA0S-01A-11D-A417-09 DDX11 12 31242073 31242073 + Silent SNP T C g.chr12:31242073T>C c.780T>C p.L260L TCGA-W5-AA2H-01A-31D-A417-09 DDX11 12 31256769 31256769 + Silent SNP G A g.chr12:31256769G>A c.2715G>A p.L905L TCGA-W5-AA39-01A-11D-A417-09 DDX17 22 38881994 38881994 + IGR SNP C A g.chr22:38881994C>A TCGA-4G-AAZO-01A-12D-A417-09 DDX19A 16 70404165 70404165 + Missense_Mutation SNP A C g.chr16:70404165A>C c.1060A>C p.K354Q TCGA-W5-AA39-01A-11D-A417-09 DDX5 17 62496866 62496866 + Silent SNP G T g.chr17:62496866G>T c.1242C>A p.I414I TCGA-W6-AA0S-01A-11D-A417-09 DDX52 17 35974393 35974393 + Frame_Shift_Del DEL T - g.chr17:35974393delT c.1748delA p.K583fs TCGA-3X-AAVC-01A-21D-A417-09 DDX53 23 23018970 23018970 + Missense_Mutation SNP G A g.chrX:23018970G>A c.796G>A p.A266T TCGA-W5-AA30-01A-31D-A417-09 DDX56 7 44611136 44611136 + Missense_Mutation SNP C T g.chr7:44611136C>T c.845G>A p.S282N TCGA-YR-A95A-01A-12D-A417-09 DDX59 1 200635799 200635799 + Missense_Mutation SNP T C g.chr1:200635799T>C c.70A>G p.I24V TCGA-ZH-A8Y1-01A-11D-A417-09 DDX60 4 169214990 169214990 + Missense_Mutation SNP C A g.chr4:169214990C>A c.830G>T p.R277L TCGA-W5-AA2H-01A-31D-A417-09 DDX60 4 169169372 169169372 + Missense_Mutation SNP G T g.chr4:169169372G>T c.3930C>A p.N1310K TCGA-W5-AA30-01A-31D-A417-09 DEAF1 11 674557 674557 + Silent SNP G A g.chr11:674557G>A c.1482C>T p.H494H TCGA-W5-AA2I-01A-32D-A417-09 DEFA1 8 6873578 6873578 + Silent SNP G A g.chr8:6873578G>A c.219C>T p.C73C TCGA-ZH-A8Y8-01A-51D-A417-09 DEFB126 20 126314 126314 + Missense_Mutation SNP C G g.chr20:126314C>G c.317C>G p.P106R TCGA-ZU-A8S4-01A-11D-A417-09 DENND1A 9 126414328 126414328 + Missense_Mutation SNP T A g.chr9:126414328T>A c.582A>T p.E194D TCGA-W5-AA39-01A-11D-A417-09 DENND1C 19 6476920 6476920 + Missense_Mutation SNP G A g.chr19:6476920G>A c.626C>T p.A209V TCGA-W6-AA0S-01A-11D-A417-09 DENND2A 7 140246698 140246698 + Silent SNP G T g.chr7:140246698G>T c.2079C>A p.A693A TCGA-W5-AA33-01A-11D-A417-09 DENND3 8 142160984 142160984 + Nonsense_Mutation SNP G T g.chr8:142160984G>T c.547G>T p.E183* TCGA-YR-A95A-01A-12D-A417-09 DENND4A 15 65983620 65983620 + Missense_Mutation SNP C A g.chr15:65983620C>A c.3180G>T p.L1060F TCGA-4G-AAZO-01A-12D-A417-09 DENND4B 1 153907309 153907309 + Silent SNP C T g.chr1:153907309C>T c.2700G>A p.Q900Q TCGA-W5-AA33-01A-11D-A417-09 DENND4C 9 19316816 19316816 + Missense_Mutation SNP G T g.chr9:19316816G>T c.1078G>T p.D360Y TCGA-W5-AA39-01A-11D-A417-09 DENND5A 11 9192183 9192183 + Missense_Mutation SNP G A g.chr11:9192183G>A c.2048C>T p.A683V TCGA-W5-AA2X-01A-11D-A417-09 DEPDC7 11 33054930 33054930 + Nonsense_Mutation SNP G T g.chr11:33054930G>T c.1465G>T p.E489* TCGA-ZH-A8Y4-01A-11D-A417-09 DFNB59 2 179318221 179318221 + Missense_Mutation SNP G A g.chr2:179318221G>A c.85G>A p.D29N TCGA-3X-AAV9-01A-72D-A417-09 DFNB59 2 179325879 179325879 + Nonsense_Mutation SNP G T g.chr2:179325879G>T c.937G>T p.G313* TCGA-4G-AAZO-01A-12D-A417-09 DGAT1 8 145541987 145541987 + Missense_Mutation SNP A C g.chr8:145541987A>C c.613T>G p.F205V TCGA-W5-AA39-01A-11D-A417-09 DGCR8 22 20073625 20073625 + Nonsense_Mutation SNP G T g.chr22:20073625G>T c.139G>T p.E47* TCGA-4G-AAZO-01A-12D-A417-09 DGKA 12 56347156 56347156 + Missense_Mutation SNP C A g.chr12:56347156C>A c.2086C>A p.Q696K TCGA-W5-AA2O-01A-11D-A417-09 DGKA 12 56335859 56335859 + Missense_Mutation SNP A C g.chr12:56335859A>C c.1328A>C p.E443A TCGA-ZU-A8S4-01A-11D-A417-09 DGKB 7 14613961 14613961 + Missense_Mutation SNP T G g.chr7:14613961T>G c.1649A>C p.D550A TCGA-W5-AA39-01A-11D-A417-09 DGKG 3 186038225 186038225 + Silent SNP G T g.chr3:186038225G>T c.24C>A p.S8S TCGA-W5-AA31-01A-11D-A417-09 DGKI 7 137150763 137150763 + Missense_Mutation SNP T C g.chr7:137150763T>C c.2527A>G p.M843V TCGA-ZH-A8Y2-01A-11D-A417-09 DHCR24 1 55352654 55352654 + Missense_Mutation SNP C A g.chr1:55352654C>A c.139G>T p.D47Y TCGA-ZH-A8Y4-01A-11D-A417-09 DHDH 19 49447641 49447641 + Nonsense_Mutation SNP G T g.chr19:49447641G>T c.772G>T p.E258* TCGA-WD-A7RX-01A-12D-A417-09 DHH 12 49483683 49483683 + Missense_Mutation SNP A G g.chr12:49483683A>G c.1150T>C p.S384P TCGA-W5-AA39-01A-11D-A417-09 DHRS13 17 27228176 27228176 + Missense_Mutation SNP C T g.chr17:27228176C>T c.514G>A p.A172T TCGA-W5-AA30-01A-31D-A417-09 DHRS7C 17 9684863 9684863 + Missense_Mutation SNP C A g.chr17:9684863C>A c.203G>T p.G68V TCGA-ZH-A8Y2-01A-11D-A417-09 DHTKD1 10 12126673 12126673 + Missense_Mutation SNP C T g.chr10:12126673C>T c.445C>T p.R149W TCGA-YR-A95A-01A-12D-A417-09 DHX16 6 30638651 30638651 + Silent SNP C T g.chr6:30638651C>T c.525G>A p.L175L TCGA-W5-AA2G-01A-11D-A417-09 DHX37 12 125437072 125437072 + Missense_Mutation SNP T C g.chr12:125437072T>C c.2740A>G p.M914V TCGA-ZH-A8Y6-01A-11D-A417-09 DHX40 17 57643997 57643997 + Missense_Mutation SNP G A g.chr17:57643997G>A c.122G>A p.G41E TCGA-W5-AA39-01A-11D-A417-09 DHX8 17 41597543 41597543 + Missense_Mutation SNP C T g.chr17:41597543C>T c.2845C>T p.P949S TCGA-ZH-A8Y4-01A-11D-A417-09 DHX9 1 182846025 182846025 + Missense_Mutation SNP A G g.chr1:182846025A>G c.2185A>G p.I729V TCGA-W5-AA30-01A-31D-A417-09 DIAPH2 23 96212895 96212895 + Silent SNP G A g.chrX:96212895G>A c.1683G>A p.G561G TCGA-YR-A95A-01A-12D-A417-09 DIAPH3 13 60498918 60498918 + Missense_Mutation SNP G T g.chr13:60498918G>T c.2161C>A p.Q721K TCGA-W5-AA2R-01A-11D-A417-09 DIAPH3 13 60435664 60435664 + Missense_Mutation SNP C A g.chr13:60435664C>A c.2614G>T p.D872Y TCGA-W5-AA31-01A-11D-A417-09 DICER1 14 95562824 95562824 + Missense_Mutation SNP G A g.chr14:95562824G>A c.4433C>T p.A1478V TCGA-W5-AA2H-01A-31D-A417-09 DICER1 14 95569702 95569703 + Missense_Mutation DNP GA AT g.chr14:95569702_95569703GA>AT c.4030_4031TC>AT p.S1344I TCGA-W5-AA39-01A-11D-A417-09 DIDO1 20 61512147 61512147 + Missense_Mutation SNP C G g.chr20:61512147C>G c.5161G>C p.G1721R TCGA-W5-AA2T-01A-12D-A417-09 DIP2C 10 387246 387246 + Silent SNP G T g.chr10:387246G>T c.3477C>A p.A1159A TCGA-W5-AA39-01A-11D-A417-09 DIS3L2 2 232894774 232894774 + Missense_Mutation SNP C A g.chr2:232894774C>A c.350C>A p.P117H TCGA-4G-AAZO-01A-12D-A417-09 DKKL1 19 49878126 49878126 + Silent SNP C T g.chr19:49878126C>T c.570C>T p.L190L TCGA-ZH-A8Y5-01A-11D-A417-09 DLAT 11 111933226 111933226 + Silent SNP G A g.chr11:111933226G>A c.1911G>A p.K637K TCGA-W5-AA39-01A-11D-A417-09 DLD 7 107557754 107557754 + Missense_Mutation SNP G A g.chr7:107557754G>A c.1083G>A p.M361I TCGA-W5-AA2T-01A-12D-A417-09 DLEC1 3 38135138 38135138 + Missense_Mutation SNP G T g.chr3:38135138G>T c.1799G>T p.G600V TCGA-3X-AAVC-01A-21D-A417-09 DLG2 11 84996326 84996326 + Missense_Mutation SNP G T g.chr11:84996326G>T c.124C>A p.Q42K TCGA-W5-AA2Q-01A-11D-A417-09 DLG2 11 84865696 84865696 + Splice_Site SNP C A g.chr11:84865696C>A TCGA-W5-AA38-01A-11D-A417-09 DLG5 10 79613209 79613209 + Missense_Mutation SNP C T g.chr10:79613209C>T c.767G>A p.R256Q TCGA-3X-AAVB-01A-31D-A417-09 DLG5 10 79576791 79576791 + Missense_Mutation SNP G A g.chr10:79576791G>A c.3848C>T p.P1283L TCGA-YR-A95A-01A-12D-A417-09 DLGAP2 8 1616531 1616531 + Missense_Mutation SNP C T g.chr8:1616531C>T c.1607C>T p.P536L TCGA-3X-AAVE-01A-11D-A417-09 DLGAP2 8 1626409 1626409 + Missense_Mutation SNP T C g.chr8:1626409T>C c.2078T>C p.V693A TCGA-W5-AA2U-01A-11D-A417-09 DLGAP2 8 1616583 1616583 + Missense_Mutation SNP C A g.chr8:1616583C>A c.1659C>A p.S553R TCGA-W5-AA34-01A-11D-A417-09 DLGAP3 1 35370532 35370532 + Silent SNP C G g.chr1:35370532C>G c.453G>C p.G151G TCGA-W5-AA2G-01A-11D-A417-09 DLGAP5 14 55636119 55636119 + Missense_Mutation SNP G T g.chr14:55636119G>T c.1546C>A p.Q516K TCGA-W5-AA2Z-01A-11D-A417-09 DLK1 14 101201136 101201136 + Missense_Mutation SNP A C g.chr14:101201136A>C c.1055A>C p.Q352P TCGA-W5-AA2I-01A-32D-A417-09 DLL1 6 170597856 170597856 + Nonsense_Mutation SNP C A g.chr6:170597856C>A c.373G>T p.E125* TCGA-3X-AAV9-01A-72D-A417-09 DLL1 6 170597586 170597586 + Splice_Site SNP T G g.chr6:170597586T>G TCGA-W5-AA39-01A-11D-A417-09 DLX5 7 96653802 96653802 + Missense_Mutation SNP G T g.chr7:96653802G>T c.134C>A p.S45Y TCGA-W5-AA33-01A-11D-A417-09 DMAP1 1 44684374 44684374 + Nonsense_Mutation SNP G T g.chr1:44684374G>T c.667G>T p.E223* TCGA-W5-AA2Z-01A-11D-A417-09 DMBT1 10 124390549 124390549 + Missense_Mutation SNP G T g.chr10:124390549G>T c.5711G>T p.G1904V TCGA-W5-AA2I-01A-32D-A417-09 DMC1 22 38917699 38917699 + Silent SNP C A g.chr22:38917699C>A c.867G>T p.G289G TCGA-4G-AAZO-01A-12D-A417-09 DMD 23 32519901 32519901 + Missense_Mutation SNP G T g.chrX:32519901G>T c.2351C>A p.A784D TCGA-4G-AAZO-01A-12D-A417-09 DMD 23 32361350 32361350 + Nonsense_Mutation SNP A T g.chrX:32361350A>T c.5640T>A p.Y1880* TCGA-W5-AA2I-01A-32D-A417-09 DMKN 19 36002411 36002412 + Missense_Mutation DNP TG CA g.chr19:36002411_36002412TG>CA c.819_820CA>TG p.S274G TCGA-YR-A95A-01A-12D-A417-09 DMRTA1 9 22451584 22451584 + Nonsense_Mutation SNP G T g.chr9:22451584G>T c.1189G>T p.G397* TCGA-ZH-A8Y5-01A-11D-A417-09 DMXL1 5 118580098 118580098 + Missense_Mutation SNP C A g.chr5:118580098C>A c.8686C>A p.P2896T TCGA-3X-AAVB-01A-31D-A417-09 DMXL1 5 118485955 118485955 + Missense_Mutation SNP C A g.chr5:118485955C>A c.4433C>A p.P1478Q TCGA-W5-AA2T-01A-12D-A417-09 DMXL1 5 118486011 118486011 + Missense_Mutation SNP A C g.chr5:118486011A>C c.4489A>C p.S1497R TCGA-W5-AA39-01A-11D-A417-09 DMXL2 15 51809289 51809289 + Missense_Mutation SNP C T g.chr15:51809289C>T c.2512G>A p.A838T TCGA-3X-AAV9-01A-72D-A417-09 DMXL2 15 51780309 51780309 + Missense_Mutation SNP G T g.chr15:51780309G>T c.5059C>A p.H1687N TCGA-W5-AA30-01A-31D-A417-09 DMXL2 15 51741202 51741202 + Missense_Mutation SNP G T g.chr15:51741202G>T c.9090C>A p.N3030K TCGA-W5-AA39-01A-11D-A417-09 DMXL2 15 51766722 51766722 + Silent SNP C T g.chr15:51766722C>T c.7029G>A p.L2343L TCGA-YR-A95A-01A-12D-A417-09 DMXL2 15 51778485 51778485 + Missense_Mutation SNP C T g.chr15:51778485C>T c.5267G>A p.R1756H TCGA-ZH-A8Y6-01A-11D-A417-09 DNA2 10 70209804 70209804 + Missense_Mutation SNP G T g.chr10:70209804G>T c.920C>A p.S307Y TCGA-W5-AA2I-01A-32D-A417-09 DNA2 10 70206164 70206164 + Silent SNP G A g.chr10:70206164G>A c.946C>T p.L316L TCGA-ZH-A8Y6-01A-11D-A417-09 DNAH11 7 21630880 21630880 + Silent SNP G A g.chr7:21630880G>A c.2352G>A p.L784L TCGA-W5-AA39-01A-11D-A417-09 DNAH11 7 21678582 21678582 + Missense_Mutation SNP G T g.chr7:21678582G>T c.4843G>T p.A1615S TCGA-ZH-A8Y6-01A-11D-A417-09 DNAH12 3 57394104 57394104 + Missense_Mutation SNP C T g.chr3:57394104C>T c.6122G>A p.R2041Q TCGA-W5-AA2R-01A-11D-A417-09 DNAH17 17 76440749 76440749 + Missense_Mutation SNP G A g.chr17:76440749G>A c.11450C>T p.T3817M TCGA-3X-AAVC-01A-21D-A417-09 DNAH2 17 7661812 7661812 + Splice_Site SNP G T g.chr17:7661812G>T TCGA-W5-AA2R-01A-11D-A417-09 DNAH2 17 7644290 7644290 + Missense_Mutation SNP C T g.chr17:7644290C>T c.1669C>T p.R557C TCGA-W5-AA2W-01A-11D-A417-09 DNAH2 17 7630469 7630469 + Silent SNP G T g.chr17:7630469G>T c.258G>T p.L86L TCGA-W6-AA0S-01A-11D-A417-09 DNAH2 17 7705318 7705318 + Silent SNP C A g.chr17:7705318C>A c.8955C>A p.L2985L TCGA-ZD-A8I3-01A-11D-A417-09 DNAH3 16 21080893 21080893 + Missense_Mutation SNP C A g.chr16:21080893C>A c.3224G>T p.R1075L TCGA-W5-AA31-01A-11D-A417-09 DNAH5 5 13811890 13811890 + Missense_Mutation SNP G T g.chr5:13811890G>T c.7273C>A p.R2425S TCGA-3X-AAVC-01A-21D-A417-09 DNAH5 5 13830277 13830277 + Missense_Mutation SNP C T g.chr5:13830277C>T c.6107G>A p.R2036H TCGA-3X-AAVE-01A-11D-A417-09 DNAH5 5 13820578 13820578 + Missense_Mutation SNP G T g.chr5:13820578G>T c.6718C>A p.P2240T TCGA-4G-AAZO-01A-12D-A417-09 DNAH5 5 13859644 13859644 + Nonsense_Mutation SNP C A g.chr5:13859644C>A c.4867G>T p.E1623* TCGA-4G-AAZO-01A-12D-A417-09 DNAH5 5 13865904 13865904 + Missense_Mutation SNP T A g.chr5:13865904T>A c.4228A>T p.N1410Y TCGA-W5-AA2X-01A-11D-A417-09 DNAH5 5 13919410 13919410 + Nonsense_Mutation SNP G A g.chr5:13919410G>A c.850C>T p.R284* TCGA-W5-AA33-01A-11D-A417-09 DNAH5 5 13753419 13753419 + Missense_Mutation SNP G T g.chr5:13753419G>T c.10795C>A p.R3599S TCGA-ZH-A8Y6-01A-11D-A417-09 DNAH6 2 84822773 84822773 + Missense_Mutation SNP A G g.chr2:84822773A>G c.2728A>G p.K910E TCGA-W5-AA2H-01A-31D-A417-09 DNAH6 2 84930673 84930673 + Missense_Mutation SNP A C g.chr2:84930673A>C c.8216A>C p.E2739A TCGA-W5-AA39-01A-11D-A417-09 DNAH6 2 85043205 85043218 + Splice_Site DEL CAGGTGAGGATGTT - g.chr2:85043205_85043218delCAGGTGAGGATGTT c.12371_12373delCAGGTGAGGATGTT p.TG4124fs TCGA-ZD-A8I3-01A-11D-A417-09 DNAH7 2 196671535 196671535 + Missense_Mutation SNP G T g.chr2:196671535G>T c.10105C>A p.P3369T TCGA-4G-AAZO-01A-12D-A417-09 DNAH7 2 196822115 196822115 + Missense_Mutation SNP A G g.chr2:196822115A>G c.2948T>C p.V983A TCGA-W5-AA39-01A-11D-A417-09 DNAH7 2 196759763 196759763 + Silent SNP T C g.chr2:196759763T>C c.4833A>G p.P1611P TCGA-ZH-A8Y1-01A-11D-A417-09 DNAH8 6 38890868 38890868 + Missense_Mutation SNP A G g.chr6:38890868A>G c.10046A>G p.K3349R TCGA-W5-AA2G-01A-11D-A417-09 DNAH8 6 38816516 38816516 + Missense_Mutation SNP A T g.chr6:38816516A>T c.4487A>T p.N1496I TCGA-W5-AA2X-01A-11D-A417-09 DNAH8 6 38840868 38840868 + Missense_Mutation SNP G A g.chr6:38840868G>A c.6773G>A p.R2258K TCGA-WD-A7RX-01A-12D-A417-09 DNAH9 17 11774974 11774974 + Missense_Mutation SNP G T g.chr17:11774974G>T c.10113G>T p.Q3371H TCGA-W5-AA2T-01A-12D-A417-09 DNAI1 9 34500833 34500833 + Missense_Mutation SNP T C g.chr9:34500833T>C c.1015T>C p.C339R TCGA-W5-AA39-01A-11D-A417-09 DNAJA3 16 4497003 4497003 + Silent SNP G T g.chr16:4497003G>T c.1113G>T p.T371T TCGA-3X-AAVA-01A-11D-A417-09 DNAJA3 16 4484495 4484495 + Nonsense_Mutation SNP G T g.chr16:4484495G>T c.322G>T p.E108* TCGA-W5-AA2U-01A-11D-A417-09 DNAJB13 11 73679407 73679407 + Silent SNP A G g.chr11:73679407A>G c.624A>G p.P208P TCGA-W5-AA39-01A-11D-A417-09 DNAJB6 7 157208727 157208727 + Missense_Mutation SNP A G g.chr7:157208727A>G c.916A>G p.K306E TCGA-W5-AA39-01A-11D-A417-09 DNAJB8 3 128181874 128181874 + Missense_Mutation SNP C T g.chr3:128181874C>T c.215G>A p.S72N TCGA-YR-A95A-01A-12D-A417-09 DNAJC11 1 6713011 6713011 + Splice_Site SNP C T g.chr1:6713011C>T c.508G>A p.A170T TCGA-3X-AAVB-01A-31D-A417-09 DNAJC14 12 56215774 56215774 + Missense_Mutation SNP G A g.chr12:56215774G>A c.2096C>T p.P699L TCGA-W5-AA39-01A-11D-A417-09 DNAJC16 1 15886125 15886125 + Silent SNP T C g.chr1:15886125T>C c.1128T>C p.P376P TCGA-W5-AA2W-01A-11D-A417-09 DNAJC16 1 15855658 15855658 + Silent SNP C T g.chr1:15855658C>T c.58C>T p.L20L TCGA-W5-AA39-01A-11D-A417-09 DNAJC19 3 180702477 180702477 + Missense_Mutation SNP G T g.chr3:180702477G>T c.302C>A p.A101D TCGA-W5-AA34-01A-11D-A417-09 DNAJC2 7 102953518 102953518 + Missense_Mutation SNP G T g.chr7:102953518G>T c.1667C>A p.T556K TCGA-3X-AAV9-01A-72D-A417-09 DNAJC2 7 102982346 102982346 + Missense_Mutation SNP C A g.chr7:102982346C>A c.120G>T p.K40N TCGA-4G-AAZO-01A-12D-A417-09 DNAJC2 7 102967063 102967063 + Missense_Mutation SNP A G g.chr7:102967063A>G c.499T>C p.S167P TCGA-W5-AA2R-01A-11D-A417-09 DNAJC28 21 34860754 34860754 + Nonsense_Mutation SNP A C g.chr21:34860754A>C c.947T>G p.L316* TCGA-W5-AA2O-01A-11D-A417-09 DNAJC3 13 96412357 96412357 + Missense_Mutation SNP C A g.chr13:96412357C>A c.610C>A p.P204T TCGA-W5-AA2O-01A-11D-A417-09 DNAJC6 1 65855273 65855273 + Silent SNP C T g.chr1:65855273C>T c.1260C>T p.Y420Y TCGA-W5-AA31-01A-11D-A417-09 DNAJC9 10 75006528 75006528 + Missense_Mutation SNP T C g.chr10:75006528T>C c.239A>G p.E80G TCGA-W5-AA39-01A-11D-A417-09 DNASE1L1 23 153631921 153631921 + Silent SNP A G g.chrX:153631921A>G c.354T>C p.D118D TCGA-3X-AAVC-01A-21D-A417-09 DNASE1L2 16 2287818 2287818 + Silent SNP G C g.chr16:2287818G>C c.642G>C p.A214A TCGA-W5-AA38-01A-11D-A417-09 DNASE1L3 3 58190532 58190532 + Missense_Mutation SNP C G g.chr3:58190532C>G c.397G>C p.E133Q TCGA-ZH-A8Y6-01A-11D-A417-09 DNM2 19 10941703 10941703 + Missense_Mutation SNP G A g.chr19:10941703G>A c.2593G>A p.E865K TCGA-W5-AA38-01A-11D-A417-09 DNM3 1 172061989 172061989 + Missense_Mutation SNP C T g.chr1:172061989C>T c.1519C>T p.H507Y TCGA-4G-AAZO-01A-12D-A417-09 DNMBP 10 101716493 101716493 + Silent SNP G T g.chr10:101716493G>T c.738C>A p.T246T TCGA-W5-AA2Q-01A-11D-A417-09 DNMBP 10 101639890 101639890 + Missense_Mutation SNP G T g.chr10:101639890G>T c.4226C>A p.P1409Q TCGA-W6-AA0S-01A-11D-A417-09 DNMT1 19 10250386 10250386 + Missense_Mutation SNP C T g.chr19:10250386C>T c.3866G>A p.R1289H TCGA-WD-A7RX-01A-12D-A417-09 DOCK1 10 128817096 128817096 + Missense_Mutation SNP C T g.chr10:128817096C>T c.1261C>T p.P421S TCGA-3X-AAV9-01A-72D-A417-09 DOCK10 2 225704784 225704784 + Missense_Mutation SNP T A g.chr2:225704784T>A c.2667A>T p.L889F TCGA-3X-AAVE-01A-11D-A417-09 DOCK10 2 225738772 225738772 + Missense_Mutation SNP C A g.chr2:225738772C>A c.1198G>T p.A400S TCGA-W5-AA39-01A-11D-A417-09 DOCK10 2 225637968 225637968 + Missense_Mutation SNP G T g.chr2:225637968G>T c.6110C>A p.S2037Y TCGA-ZH-A8Y5-01A-11D-A417-09 DOCK11 23 117777438 117777438 + Missense_Mutation SNP G T g.chrX:117777438G>T c.4279G>T p.D1427Y TCGA-W5-AA2T-01A-12D-A417-09 DOCK2 5 169509839 169509839 + Missense_Mutation SNP G A g.chr5:169509839G>A c.5470G>A p.D1824N TCGA-W5-AA31-01A-11D-A417-09 DOCK2 5 169145773 169145773 + Missense_Mutation SNP C T g.chr5:169145773C>T c.2245C>T p.R749W TCGA-ZH-A8Y4-01A-11D-A417-09 DOCK4 7 111381218 111381218 + Missense_Mutation SNP G T g.chr7:111381218G>T c.4945C>A p.Q1649K TCGA-W5-AA2R-01A-11D-A417-09 DOCK7 1 63018485 63018485 + Missense_Mutation SNP C T g.chr1:63018485C>T c.2684G>A p.R895Q TCGA-3X-AAV9-01A-72D-A417-09 DOCK8 9 428485 428485 + Missense_Mutation SNP C G g.chr9:428485C>G c.4462C>G p.L1488V TCGA-W5-AA30-01A-31D-A417-09 DOCK9 13 99554100 99554100 + Missense_Mutation SNP C T g.chr13:99554100C>T c.1435G>A p.E479K TCGA-W5-AA2U-01A-11D-A417-09 DOK4 16 57509842 57509842 + Missense_Mutation SNP G A g.chr16:57509842G>A c.94C>T p.R32W TCGA-ZH-A8Y2-01A-11D-A417-09 DOM3Z 6 31938791 31938791 + Nonsense_Mutation SNP C A g.chr6:31938791C>A c.490G>T p.E164* TCGA-W5-AA39-01A-11D-A417-09 DOT1L 19 2189743 2189743 + Missense_Mutation SNP G T g.chr19:2189743G>T c.213G>T p.M71I TCGA-W5-AA2X-01A-11D-A417-09 DOT1L 19 2194519 2194519 + Missense_Mutation SNP G T g.chr19:2194519G>T c.594G>T p.M198I TCGA-ZH-A8Y4-01A-11D-A417-09 DPF3 14 73140954 73140954 + Missense_Mutation SNP G A g.chr14:73140954G>A c.865C>T p.R289C TCGA-3X-AAV9-01A-72D-A417-09 DPH2 1 44437356 44437356 + Missense_Mutation SNP G T g.chr1:44437356G>T c.782G>T p.G261V TCGA-ZH-A8Y1-01A-11D-A417-09 DPP3 11 66258758 66258758 + Silent SNP G A g.chr11:66258758G>A c.702G>A p.L234L TCGA-W5-AA2X-01A-11D-A417-09 DPP4 2 162875264 162875264 + Silent SNP C A g.chr2:162875264C>A c.1395G>T p.A465A TCGA-W5-AA2I-01A-32D-A417-09 DPRX 19 54140174 54140174 + Missense_Mutation SNP C A g.chr19:54140174C>A c.508C>A p.Q170K TCGA-W5-AA2H-01A-31D-A417-09 DPY19L3 19 32968452 32968452 + Silent SNP G A g.chr19:32968452G>A c.1722G>A p.V574V TCGA-ZH-A8Y4-01A-11D-A417-09 DPY19L3 19 32930122 32930122 + Missense_Mutation SNP A G g.chr19:32930122A>G c.701A>G p.N234S TCGA-ZH-A8Y5-01A-11D-A417-09 DPYSL3 5 146795287 146795287 + Missense_Mutation SNP G T g.chr5:146795287G>T c.463C>A p.L155I TCGA-3X-AAVA-01A-11D-A417-09 DPYSL4 10 134006179 134006179 + Missense_Mutation SNP T C g.chr10:134006179T>C c.146T>C p.L49P TCGA-4G-AAZT-01A-11D-A417-09 DRAM2 1 111663216 111663216 + Nonsense_Mutation SNP G A g.chr1:111663216G>A c.439C>T p.Q147* TCGA-W5-AA2R-01A-11D-A417-09 DRD1 5 174869423 174869423 + Missense_Mutation SNP C T g.chr5:174869423C>T c.680G>A p.R227H TCGA-W5-AA31-01A-11D-A417-09 DRD5 4 9783917 9783917 + Silent SNP T C g.chr4:9783917T>C c.264T>C p.L88L TCGA-3X-AAVC-01A-21D-A417-09 DRD5 4 9784882 9784882 + Missense_Mutation SNP A G g.chr4:9784882A>G c.1229A>G p.Y410C TCGA-ZD-A8I3-01A-11D-A417-09 DRG2 17 18009784 18009784 + Missense_Mutation SNP A C g.chr17:18009784A>C c.992A>C p.K331T TCGA-W5-AA39-01A-11D-A417-09 DSCAM 21 41452122 41452122 + Silent SNP T C g.chr21:41452122T>C c.4377A>G p.P1459P TCGA-W5-AA2R-01A-11D-A417-09 DSCAML1 11 117375684 117375684 + Missense_Mutation SNP C T g.chr11:117375684C>T c.2317G>A p.V773M TCGA-W5-AA33-01A-11D-A417-09 DSE 6 116756770 116756770 + Missense_Mutation SNP C T g.chr6:116756770C>T c.1139C>T p.S380L TCGA-ZH-A8Y8-01A-51D-A417-09 DSPP 4 88537327 88537327 + Silent SNP C T g.chr4:88537327C>T c.3513C>T p.S1171S TCGA-W5-AA2O-01A-11D-A417-09 DSPP 4 88536880 88536880 + Silent SNP C T g.chr4:88536880C>T c.3066C>T p.S1022S TCGA-WD-A7RX-01A-12D-A417-09 DSPP 4 88537225 88537225 + Missense_Mutation SNP C A g.chr4:88537225C>A c.3411C>A p.D1137E TCGA-WD-A7RX-01A-12D-A417-09 DSPP 4 88537123 88537123 + Silent SNP C T g.chr4:88537123C>T c.3309C>T p.S1103S TCGA-ZH-A8Y2-01A-11D-A417-09 DST 6 56464980 56464980 + Missense_Mutation SNP G T g.chr6:56464980G>T c.10948C>A p.Q3650K TCGA-3X-AAV9-01A-72D-A417-09 DST 6 56401599 56401599 + Missense_Mutation SNP C A g.chr6:56401599C>A c.16115G>T p.R5372L TCGA-W5-AA2Q-01A-11D-A417-09 DST 6 56342186 56342186 + Missense_Mutation SNP G T g.chr6:56342186G>T c.20672C>A p.T6891N TCGA-ZH-A8Y6-01A-11D-A417-09 DSTYK 1 205132932 205132932 + Silent SNP G A g.chr1:205132932G>A c.1476C>T p.V492V TCGA-3X-AAVA-01A-11D-A417-09 DSTYK 1 205132087 205132087 + Silent SNP C T g.chr1:205132087C>T c.1605G>A p.S535S TCGA-W5-AA2Z-01A-11D-A417-09 DTL 1 212274368 212274368 + Missense_Mutation SNP G T g.chr1:212274368G>T c.2036G>T p.S679I TCGA-WD-A7RX-01A-12D-A417-09 DTNB 2 25611194 25611194 + Missense_Mutation SNP G T g.chr2:25611194G>T c.1612C>A p.H538N TCGA-W5-AA2R-01A-11D-A417-09 DTX1 12 113531422 113531422 + Missense_Mutation SNP C T g.chr12:113531422C>T c.1082C>T p.P361L TCGA-W5-AA2Z-01A-11D-A417-09 DUOX2 15 45394116 45394116 + Missense_Mutation SNP C A g.chr15:45394116C>A c.2726G>T p.R909L TCGA-4G-AAZO-01A-12D-A417-09 DUSP12 1 161726605 161726605 + Missense_Mutation SNP G T g.chr1:161726605G>T c.891G>T p.L297F TCGA-ZH-A8Y8-01A-51D-A417-09 DUSP18 22 31059695 31059695 + Missense_Mutation SNP C T g.chr22:31059695C>T c.296G>A p.R99H TCGA-3X-AAVE-01A-11D-A417-09 DVL2 17 7129307 7129307 + Silent SNP C T g.chr17:7129307C>T c.2088G>A p.V696V TCGA-4G-AAZT-01A-11D-A417-09 DYRK4 12 4700465 4700465 + Splice_Site SNP G A g.chr12:4700465G>A TCGA-W5-AA2Z-01A-11D-A417-09 DZIP3 3 108344792 108344792 + Missense_Mutation SNP G T g.chr3:108344792G>T c.557G>T p.G186V TCGA-WD-A7RX-01A-12D-A417-09 DZIP3 3 108361320 108361320 + Missense_Mutation SNP C G g.chr3:108361320C>G c.1100C>G p.T367S TCGA-ZU-A8S4-01A-11D-A417-09 EAF2 3 121575996 121575996 + Silent SNP C A g.chr3:121575996C>A c.477C>A p.I159I TCGA-W5-AA2T-01A-12D-A417-09 EAPP 14 35005377 35005377 + Missense_Mutation SNP T G g.chr14:35005377T>G c.179A>C p.E60A TCGA-4G-AAZO-01A-12D-A417-09 EBF2 8 25716016 25716016 + Nonsense_Mutation SNP G T g.chr8:25716016G>T c.1347C>A p.Y449* TCGA-ZH-A8Y6-01A-11D-A417-09 ECM1 1 150484858 150484858 + Missense_Mutation SNP C T g.chr1:150484858C>T c.1114C>T p.R372W TCGA-W5-AA2H-01A-31D-A417-09 ECM2 9 95264897 95264897 + Missense_Mutation SNP G T g.chr9:95264897G>T c.1502C>A p.T501N TCGA-W5-AA33-01A-11D-A417-09 ECM2 9 95277473 95277473 + Missense_Mutation SNP A G g.chr9:95277473A>G c.494T>C p.L165P TCGA-W5-AA39-01A-11D-A417-09 EDEM2 20 33722567 33722567 + Missense_Mutation SNP A G g.chr20:33722567A>G c.676T>C p.W226R TCGA-W5-AA39-01A-11D-A417-09 EDEM2 20 33722569 33722569 + Missense_Mutation SNP A G g.chr20:33722569A>G c.674T>C p.L225P TCGA-W5-AA39-01A-11D-A417-09 EDN2 1 41949743 41949743 + Missense_Mutation SNP C T g.chr1:41949743C>T c.196G>A p.D66N TCGA-ZH-A8Y6-01A-11D-A417-09 EDNRB 13 78492579 78492579 + Nonsense_Mutation SNP C A g.chr13:78492579C>A c.130G>T p.E44* TCGA-3X-AAVC-01A-21D-A417-09 EEA1 12 93226362 93226362 + Nonsense_Mutation SNP C A g.chr12:93226362C>A c.1180G>T p.E394* TCGA-W5-AA30-01A-31D-A417-09 EEF1A1 6 74229629 74229629 + Missense_Mutation SNP T G g.chr6:74229629T>G c.121A>C p.K41Q TCGA-W5-AA39-01A-11D-A417-09 EEF1D 8 144672086 144672086 + Intron SNP C T g.chr8:144672086C>T TCGA-3X-AAVA-01A-11D-A417-09 EEF1E1 6 8097530 8097530 + Silent SNP G T g.chr6:8097530G>T c.258C>A p.S86S TCGA-ZH-A8Y2-01A-11D-A417-09 EEFSEC 3 128060585 128060585 + Silent SNP G A g.chr3:128060585G>A c.1296G>A p.R432R TCGA-W5-AA2U-01A-11D-A417-09 EFCAB5 17 28268848 28268848 + Missense_Mutation SNP C A g.chr17:28268848C>A c.34C>A p.P12T TCGA-3X-AAVB-01A-31D-A417-09 EFCAB6 22 43985975 43985975 + Missense_Mutation SNP T C g.chr22:43985975T>C c.3011A>G p.E1004G TCGA-W5-AA2G-01A-11D-A417-09 EFNA5 5 106762982 106762982 + Missense_Mutation SNP G T g.chr5:106762982G>T c.354C>A p.F118L TCGA-W5-AA2G-01A-11D-A417-09 EFTUD2 17 42937901 42937901 + Nonsense_Mutation SNP C A g.chr17:42937901C>A c.1618G>T p.E540* TCGA-W5-AA34-01A-11D-A417-09 EGFLAM 5 38407067 38407067 + Silent SNP T C g.chr5:38407067T>C c.966T>C p.A322A TCGA-ZH-A8Y2-01A-11D-A417-09 EGFR 7 55249155 55249155 + Missense_Mutation SNP G T g.chr7:55249155G>T c.2453G>T p.C818F TCGA-WD-A7RX-01A-12D-A417-09 EGFR 7 55249090 55249090 + Silent SNP C T g.chr7:55249090C>T c.2388C>T p.G796G TCGA-ZU-A8S4-01A-11D-A417-09 EGR4 2 73518868 73518868 + Missense_Mutation SNP C T g.chr2:73518868C>T c.1487G>A p.R496H TCGA-W5-AA39-01A-11D-A417-09 EHD3 2 31457587 31457587 + Silent SNP C T g.chr2:31457587C>T c.100C>T p.L34L TCGA-W5-AA38-01A-11D-A417-09 EHMT2 6 31855598 31855598 + Missense_Mutation SNP C T g.chr6:31855598C>T c.1886G>A p.R629Q TCGA-3X-AAVE-01A-11D-A417-09 EIF1AD 11 65767103 65767103 + Silent SNP C T g.chr11:65767103C>T c.240G>A p.V80V TCGA-3X-AAVC-01A-21D-A417-09 EIF2C3 1 36501846 36501846 + Missense_Mutation SNP G T g.chr1:36501846G>T c.1820G>T p.G607V TCGA-W5-AA2G-01A-11D-A417-09 EIF2C3 1 36506015 36506015 + Silent SNP A C g.chr1:36506015A>C c.2145A>C p.R715R TCGA-W5-AA39-01A-11D-A417-09 EIF3A 10 120820340 120820340 + Missense_Mutation SNP C A g.chr10:120820340C>A c.1244G>T p.R415M TCGA-4G-AAZO-01A-12D-A417-09 EIF3B 7 2411439 2411439 + Silent SNP C A g.chr7:2411439C>A c.1642C>A p.R548R TCGA-4G-AAZO-01A-12D-A417-09 EIF3H 8 117767993 117767994 + Missense_Mutation DNP GA TT g.chr8:117767993_117767994GA>TT c.85_86TC>AA p.S29N TCGA-W5-AA39-01A-11D-A417-09 EIF3J 15 44849831 44849831 + Missense_Mutation SNP G T g.chr15:44849831G>T c.554G>T p.R185L TCGA-4G-AAZO-01A-12D-A417-09 EIF4E2 2 233422641 233422641 + Silent SNP T G g.chr2:233422641T>G c.183T>G p.T61T TCGA-W5-AA39-01A-11D-A417-09 EIF4ENIF1 22 31859005 31859005 + Missense_Mutation SNP C T g.chr22:31859005C>T c.700G>A p.E234K TCGA-W5-AA2X-01A-11D-A417-09 EIF4ENIF1 22 31854517 31854517 + Nonsense_Mutation SNP C A g.chr22:31854517C>A c.907G>T p.G303* TCGA-W5-AA38-01A-11D-A417-09 EIF4G1 3 184039769 184039770 + Missense_Mutation DNP GA AG g.chr3:184039769_184039770GA>AG c.1397_1398GA>AG p.G466E TCGA-W5-AA2X-01A-11D-A417-09 EIF4G1 3 184039802 184039802 + Missense_Mutation SNP A T g.chr3:184039802A>T c.1430A>T p.E477V TCGA-W5-AA39-01A-11D-A417-09 EIF4G1 3 184040641 184040641 + Missense_Mutation SNP A C g.chr3:184040641A>C c.1828A>C p.K610Q TCGA-W5-AA39-01A-11D-A417-09 EIF4G2 11 10821765 10821765 + Missense_Mutation SNP G T g.chr11:10821765G>T c.1991C>A p.P664Q TCGA-W5-AA2O-01A-11D-A417-09 EIF4G2 11 10822519 10822519 + Missense_Mutation SNP G T g.chr11:10822519G>T c.1529C>A p.P510H TCGA-ZH-A8Y1-01A-11D-A417-09 EIF5B 2 100007024 100007024 + Silent SNP G C g.chr2:100007024G>C c.2604G>C p.G868G TCGA-W5-AA2X-01A-11D-A417-09 ELANE 19 853306 853306 + Missense_Mutation SNP C T g.chr19:853306C>T c.269C>T p.S90L TCGA-4G-AAZT-01A-11D-A417-09 ELAVL1 19 8056616 8056616 + Silent SNP A T g.chr19:8056616A>T c.84T>A p.P28P TCGA-W5-AA39-01A-11D-A417-09 ELAVL4 1 50610818 50610818 + Missense_Mutation SNP G A g.chr1:50610818G>A c.199G>A p.G67R TCGA-W5-AA2Q-01A-11D-A417-09 ELF3 1 201980321 201980334 + Frame_Shift_Del DEL CAGCTCGGAGGACT - g.chr1:201980321_201980334delCAGCTCGGAGGACT c.57_70delCAGCTCGGAGGACT p.SSEDS20fs TCGA-4G-AAZT-01A-11D-A417-09 ELF3 1 201984393 201984393 + Missense_Mutation SNP A C g.chr1:201984393A>C c.1058A>C p.K353T TCGA-W5-AA30-01A-31D-A417-09 ELF4 23 129205393 129205393 + Splice_Site SNP G T g.chrX:129205393G>T c.534C>A p.I178I TCGA-3X-AAVB-01A-31D-A417-09 ELF4 23 129201166 129201166 + Nonsense_Mutation SNP C A g.chrX:129201166C>A c.1522G>T p.G508* TCGA-W5-AA2U-01A-11D-A417-09 ELK1 23 47496463 47496463 + Missense_Mutation SNP C G g.chrX:47496463C>G c.1137G>C p.W379C TCGA-3X-AAV9-01A-72D-A417-09 ELL2 5 95242375 95242375 + Missense_Mutation SNP C A g.chr5:95242375C>A c.593G>T p.S198I TCGA-W5-AA2T-01A-12D-A417-09 ELL2 5 95236433 95236433 + Silent SNP A G g.chr5:95236433A>G c.918T>C p.P306P TCGA-W5-AA39-01A-11D-A417-09 ELMO1 7 36910057 36910057 + Missense_Mutation SNP C A g.chr7:36910057C>A c.1846G>T p.V616L TCGA-3X-AAVB-01A-31D-A417-09 ELMOD1 11 107518233 107518234 + In_Frame_Ins INS - GGATTTCTA g.chr11:107518233_107518234insGGATTTCTA c.460_461insGGATTTCTA p.154_154R>RISR TCGA-W5-AA39-01A-11D-A417-09 ELN 7 73470731 73470731 + Silent SNP C A g.chr7:73470731C>A c.1281C>A p.P427P TCGA-4G-AAZO-01A-12D-A417-09 ELN 7 73474351 73474351 + Missense_Mutation SNP C A g.chr7:73474351C>A c.1550C>A p.P517H TCGA-W5-AA2X-01A-11D-A417-09 ELN 7 73474781 73474782 + Missense_Mutation DNP CT TC g.chr7:73474781_73474782CT>TC c.1697_1698CT>TC p.A566V TCGA-W5-AA39-01A-11D-A417-09 ELN 7 73474785 73474785 + Silent SNP T C g.chr7:73474785T>C c.1701T>C p.G567G TCGA-W5-AA39-01A-11D-A417-09 ELN 7 73474788 73474788 + Silent SNP T C g.chr7:73474788T>C c.1704T>C p.V568V TCGA-W5-AA39-01A-11D-A417-09 ELOVL7 5 60067809 60067809 + Missense_Mutation SNP C T g.chr5:60067809C>T c.176G>A p.R59H TCGA-W5-AA2U-01A-11D-A417-09 ELOVL7 5 60060157 60060157 + Silent SNP G T g.chr5:60060157G>T c.396C>A p.I132I TCGA-ZH-A8Y5-01A-11D-A417-09 EMILIN2 18 2884988 2884988 + Missense_Mutation SNP A T g.chr18:2884988A>T c.284A>T p.Y95F TCGA-ZH-A8Y8-01A-51D-A417-09 EML3 11 62378802 62378802 + Missense_Mutation SNP G T g.chr11:62378802G>T c.209C>A p.P70Q TCGA-W5-AA2T-01A-12D-A417-09 EML4 2 42483696 42483696 + Silent SNP T C g.chr2:42483696T>C c.264T>C p.G88G TCGA-ZH-A8Y2-01A-11D-A417-09 EML5 14 89220900 89220900 + Missense_Mutation SNP G T g.chr14:89220900G>T c.313C>A p.H105N TCGA-3X-AAV9-01A-72D-A417-09 EML5 14 89171303 89171303 + Missense_Mutation SNP G T g.chr14:89171303G>T c.1952C>A p.P651H TCGA-3X-AAVB-01A-31D-A417-09 EML5 14 89124692 89124692 + Missense_Mutation SNP G A g.chr14:89124692G>A c.3716C>T p.T1239I TCGA-W5-AA30-01A-31D-A417-09 EMR3 19 14736408 14736408 + Missense_Mutation SNP G T g.chr19:14736408G>T c.1816C>A p.Q606K TCGA-W5-AA2O-01A-11D-A417-09 ENAM 4 71510219 71510219 + Nonsense_Mutation SNP G T g.chr4:71510219G>T c.3076G>T p.E1026* TCGA-W5-AA31-01A-11D-A417-09 ENC1 5 73931139 73931139 + Frame_Shift_Del DEL T - g.chr5:73931139delT c.1172delA p.Y391fs TCGA-3X-AAVC-01A-21D-A417-09 ENGASE 17 77073889 77073889 + Missense_Mutation SNP G A g.chr17:77073889G>A c.359G>A p.S120N TCGA-ZH-A8Y8-01A-51D-A417-09 ENOSF1 18 674365 674365 + Missense_Mutation SNP C A g.chr18:674365C>A c.1272G>T p.K424N TCGA-W5-AA38-01A-11D-A417-09 ENOX1 13 43930059 43930059 + Silent SNP C T g.chr13:43930059C>T c.819G>A p.L273L TCGA-3X-AAV9-01A-72D-A417-09 ENPP2 8 120602791 120602791 + Silent SNP A G g.chr8:120602791A>G c.1161T>C p.P387P TCGA-W5-AA2T-01A-12D-A417-09 ENTPD1 10 97599460 97599460 + Silent SNP C T g.chr10:97599460C>T c.157C>T p.L53L TCGA-W5-AA2G-01A-11D-A417-09 EP300 22 41547849 41547849 + Missense_Mutation SNP G A g.chr22:41547849G>A c.2830G>A p.A944T TCGA-W5-AA2O-01A-11D-A417-09 EP300 22 41513219 41513219 + Missense_Mutation SNP C G g.chr22:41513219C>G c.123C>G p.H41Q TCGA-W5-AA39-01A-11D-A417-09 EP300 22 41574848 41574848 + Missense_Mutation SNP G A g.chr22:41574848G>A c.7133G>A p.S2378N TCGA-W5-AA39-01A-11D-A417-09 EP400 12 132547144 132547144 + Silent SNP G A g.chr12:132547144G>A c.8340G>A p.Q2780Q TCGA-W5-AA2O-01A-11D-A417-09 EP400 12 132514441 132514441 + Silent SNP C T g.chr12:132514441C>T c.5685C>T p.F1895F TCGA-W5-AA2T-01A-12D-A417-09 EP400 12 132530051 132530051 + Missense_Mutation SNP G T g.chr12:132530051G>T c.7080G>T p.E2360D TCGA-W5-AA2U-01A-11D-A417-09 EP400 12 132547093 132547094 + In_Frame_Ins INS - CAGCAGCAGCAG g.chr12:132547093_132547094insCAGCAGCAGCAG c.8289_8290insCAGCAGCAGCAG p.2764_2764Q>QQQQQ TCGA-WD-A7RX-01A-12D-A417-09 EP400 12 132504692 132504692 + Missense_Mutation SNP C G g.chr12:132504692C>G c.4484C>G p.S1495C TCGA-ZH-A8Y2-01A-11D-A417-09 EP400 12 132547144 132547144 + Silent SNP G A g.chr12:132547144G>A c.8340G>A p.Q2780Q TCGA-ZH-A8Y5-01A-11D-A417-09 EP400 12 132475225 132475225 + Missense_Mutation SNP G T g.chr12:132475225G>T c.2703G>T p.K901N TCGA-ZH-A8Y8-01A-51D-A417-09 EPB41L4A 5 111594968 111594968 + Silent SNP G A g.chr5:111594968G>A c.753C>T p.H251H TCGA-W5-AA39-01A-11D-A417-09 EPB41L5 2 120925069 120925069 + Silent SNP C A g.chr2:120925069C>A c.1990C>A p.R664R TCGA-4G-AAZO-01A-12D-A417-09 EPB41L5 2 120861693 120861693 + Intron SNP C T g.chr2:120861693C>T TCGA-ZU-A8S4-01A-11D-A417-09 EPC1 10 32576188 32576188 + Missense_Mutation SNP A T g.chr10:32576188A>T c.990T>A p.D330E TCGA-YR-A95A-01A-12D-A417-09 EPHA2 1 16459707 16459707 + Missense_Mutation SNP T A g.chr1:16459707T>A c.2021A>T p.N674I TCGA-3X-AAVA-01A-11D-A417-09 EPHA2 1 16462176 16462176 + Nonsense_Mutation SNP T A g.chr1:16462176T>A c.1402A>T p.K468* TCGA-W5-AA2G-01A-11D-A417-09 EPHA2 1 16451813 16451813 + Missense_Mutation SNP T A g.chr1:16451813T>A c.2828A>T p.D943V TCGA-W5-AA2I-01A-32D-A417-09 EPHA2 1 16475262 16475263 + Frame_Shift_Ins INS - T g.chr1:16475262_16475263insT c.433_434insA p.I145fs TCGA-YR-A95A-01A-12D-A417-09 EPHA7 6 94068073 94068073 + Missense_Mutation SNP G A g.chr6:94068073G>A c.889C>T p.P297S TCGA-W5-AA2U-01A-11D-A417-09 EPHA7 6 93953157 93953157 + Missense_Mutation SNP C T g.chr6:93953157C>T c.2984G>A p.G995D TCGA-W5-AA34-01A-11D-A417-09 EPHA8 1 22915663 22915663 + Missense_Mutation SNP C T g.chr1:22915663C>T c.1279C>T p.R427W TCGA-3X-AAVE-01A-11D-A417-09 EPN1 19 56200706 56200706 + Missense_Mutation SNP C T g.chr19:56200706C>T c.647C>T p.A216V TCGA-ZH-A8Y6-01A-11D-A417-09 EPN2 17 19186722 19186722 + Missense_Mutation SNP G T g.chr17:19186722G>T c.290G>T p.R97L TCGA-3X-AAVE-01A-11D-A417-09 EPN2 17 19232056 19232056 + Missense_Mutation SNP G T g.chr17:19232056G>T c.1180G>T p.G394W TCGA-W5-AA30-01A-31D-A417-09 EPPK1 8 144940742 144940742 + Missense_Mutation SNP G A g.chr8:144940742G>A c.6680C>T p.A2227V TCGA-ZH-A8Y2-01A-11D-A417-09 EPRS 1 220151958 220151958 + Missense_Mutation SNP T A g.chr1:220151958T>A c.4013A>T p.N1338I TCGA-W5-AA2I-01A-32D-A417-09 EPYC 12 91371911 91371911 + Silent SNP G T g.chr12:91371911G>T c.294C>A p.P98P TCGA-3X-AAVC-01A-21D-A417-09 ERBB2 17 37880219 37880220 + Missense_Mutation DNP TT CC g.chr17:37880219_37880220TT>CC c.2263_2264TT>CC p.L755P TCGA-4G-AAZO-01A-12D-A417-09 ERBB2 17 37883077 37883077 + Missense_Mutation SNP T G g.chr17:37883077T>G c.2980T>G p.L994V TCGA-W5-AA39-01A-11D-A417-09 ERBB4 2 212251586 212251586 + Missense_Mutation SNP G T g.chr2:212251586G>T c.3473C>A p.P1158H TCGA-W5-AA2O-01A-11D-A417-09 ERBB4 2 212530115 212530115 + Missense_Mutation SNP T A g.chr2:212530115T>A c.1804A>T p.S602C TCGA-W5-AA2U-01A-11D-A417-09 ERBB4 2 212566887 212566887 + Missense_Mutation SNP G T g.chr2:212566887G>T c.1294C>A p.L432M TCGA-ZH-A8Y8-01A-51D-A417-09 ERC2 3 56468705 56468705 + Missense_Mutation SNP G T g.chr3:56468705G>T c.331C>A p.H111N TCGA-4G-AAZO-01A-12D-A417-09 ERC2 3 56026205 56026205 + Missense_Mutation SNP G T g.chr3:56026205G>T c.2135C>A p.A712E TCGA-W5-AA39-01A-11D-A417-09 ERCC2 19 45855787 45855787 + Missense_Mutation SNP C A g.chr19:45855787C>A c.2023G>T p.G675C TCGA-W5-AA39-01A-11D-A417-09 ERLEC1 2 54035592 54035592 + Missense_Mutation SNP C T g.chr2:54035592C>T c.1036C>T p.R346C TCGA-W5-AA2U-01A-11D-A417-09 ERMP1 9 5810057 5810057 + Missense_Mutation SNP G T g.chr9:5810057G>T c.1502C>A p.A501D TCGA-3X-AAVB-01A-31D-A417-09 ERMP1 9 5825098 5825098 + Silent SNP G T g.chr9:5825098G>T c.762C>A p.V254V TCGA-3X-AAVB-01A-31D-A417-09 ERN1 17 62142632 62142632 + Silent SNP A G g.chr17:62142632A>G c.858T>C p.V286V TCGA-W5-AA39-01A-11D-A417-09 ESPL1 12 53677189 53677189 + Nonsense_Mutation SNP C T g.chr12:53677189C>T c.2944C>T p.Q982* TCGA-W5-AA39-01A-11D-A417-09 ESPN 1 6511978 6511978 + Missense_Mutation SNP T G g.chr1:6511978T>G c.2147T>G p.L716R TCGA-W5-AA39-01A-11D-A417-09 ESR2 14 64749427 64749427 + Missense_Mutation SNP G T g.chr14:64749427G>T c.277C>A p.R93S TCGA-W5-AA2X-01A-11D-A417-09 ESRP1 8 95655629 95655629 + Silent SNP T C g.chr8:95655629T>C c.360T>C p.P120P TCGA-YR-A95A-01A-12D-A417-09 ESRP1 8 95653675 95653675 + Missense_Mutation SNP G T g.chr8:95653675G>T c.129G>T p.K43N TCGA-ZH-A8Y8-01A-51D-A417-09 ESX1 23 103495187 103495187 + Missense_Mutation SNP C A g.chrX:103495187C>A c.943G>T p.G315W TCGA-ZH-A8Y6-01A-11D-A417-09 ESYT1 12 56524868 56524868 + Silent SNP A G g.chr12:56524868A>G c.612A>G p.K204K TCGA-YR-A95A-01A-12D-A417-09 ESYT1 12 56524397 56524397 + Missense_Mutation SNP G T g.chr12:56524397G>T c.422G>T p.W141L TCGA-ZD-A8I3-01A-11D-A417-09 ESYT2 7 158560431 158560435 + Frame_Shift_Del DEL ATATT - g.chr7:158560431_158560435delATATT c.978_982delAATAT p.IS327fs TCGA-ZH-A8Y8-01A-51D-A417-09 ETS1 11 128350152 128350152 + Missense_Mutation SNP G A g.chr11:128350152G>A c.925C>T p.R309W TCGA-W5-AA2I-01A-32D-A417-09 ETS1 11 128354828 128354828 + Missense_Mutation SNP G A g.chr11:128354828G>A c.620C>T p.S207L TCGA-W5-AA38-01A-11D-A417-09 ETV3L 1 157062558 157062558 + Silent SNP G T g.chr1:157062558G>T c.969C>A p.G323G TCGA-ZH-A8Y6-01A-11D-A417-09 ETV5 3 185798929 185798929 + Missense_Mutation SNP G A g.chr3:185798929G>A c.268C>T p.R90W TCGA-4G-AAZT-01A-11D-A417-09 EVI5 1 93089878 93089878 + Missense_Mutation SNP C T g.chr1:93089878C>T c.1634G>A p.R545H TCGA-W5-AA2R-01A-11D-A417-09 EVPL 17 74003247 74003247 + Silent SNP C T g.chr17:74003247C>T c.6039G>A p.A2013A TCGA-4G-AAZO-01A-12D-A417-09 EXD1 15 41483652 41483652 + Silent SNP T C g.chr15:41483652T>C c.678A>G p.Q226Q TCGA-3X-AAVE-01A-11D-A417-09 EXD3 9 140201611 140201611 + Missense_Mutation SNP C T g.chr9:140201611C>T c.2422G>A p.G808S TCGA-W6-AA0S-01A-11D-A417-09 EXOC1 4 56759748 56759748 + Silent SNP A G g.chr4:56759748A>G c.1755A>G p.K585K TCGA-W5-AA39-01A-11D-A417-09 EXOC1 4 56756490 56756490 + Missense_Mutation SNP T G g.chr4:56756490T>G c.1477T>G p.L493V TCGA-W6-AA0S-01A-11D-A417-09 EXOC3L 16 67220210 67220210 + Missense_Mutation SNP T C g.chr16:67220210T>C c.1426A>G p.R476G TCGA-3X-AAVA-01A-11D-A417-09 EXOC4 7 133580353 133580353 + Splice_Site SNP G T g.chr7:133580353G>T c.1736G>T p.S579I TCGA-W5-AA2G-01A-11D-A417-09 EXOG 3 38539183 38539183 + Missense_Mutation SNP G T g.chr3:38539183G>T c.227G>T p.C76F TCGA-W5-AA2R-01A-11D-A417-09 EXOSC4 8 145133719 145133719 + Missense_Mutation SNP G T g.chr8:145133719G>T c.88G>T p.G30C TCGA-ZH-A8Y1-01A-11D-A417-09 EXTL3 8 28573668 28573668 + Nonsense_Mutation SNP G A g.chr8:28573668G>A c.92G>A p.W31* TCGA-4G-AAZO-01A-12D-A417-09 EYS 6 65300622 65300622 + Missense_Mutation SNP G A g.chr6:65300622G>A c.5138C>T p.P1713L TCGA-W5-AA2U-01A-11D-A417-09 EYS 6 66005908 66005908 + Nonsense_Mutation SNP G T g.chr6:66005908G>T c.1871C>A p.S624* TCGA-ZH-A8Y8-01A-51D-A417-09 EZH2 7 148523609 148523609 + Missense_Mutation SNP G T g.chr7:148523609G>T c.844C>A p.H282N TCGA-3X-AAV9-01A-72D-A417-09 EZR 6 159208198 159208198 + Missense_Mutation SNP A C g.chr6:159208198A>C c.134T>G p.F45C TCGA-W5-AA39-01A-11D-A417-09 EZR 6 159197491 159197491 + Silent SNP G T g.chr6:159197491G>T c.744C>A p.I248I TCGA-YR-A95A-01A-12D-A417-09 F11 4 187194273 187194273 + Silent SNP G T g.chr4:187194273G>T c.267G>T p.V89V TCGA-W5-AA38-01A-11D-A417-09 F12 5 176832069 176832069 + Missense_Mutation SNP C T g.chr5:176832069C>T c.515G>A p.R172Q TCGA-ZH-A8Y6-01A-11D-A417-09 F13A1 6 6305670 6305670 + Missense_Mutation SNP C T g.chr6:6305670C>T c.233G>A p.R78H TCGA-4G-AAZO-01A-12D-A417-09 F13A1 6 6175067 6175067 + Missense_Mutation SNP G A g.chr6:6175067G>A c.1493C>T p.A498V TCGA-W5-AA2R-01A-11D-A417-09 F2RL1 5 76128777 76128777 + Silent SNP C T g.chr5:76128777C>T c.345C>T p.A115A TCGA-ZH-A8Y2-01A-11D-A417-09 F5 1 169500257 169500257 + Missense_Mutation SNP G T g.chr1:169500257G>T c.4975C>A p.R1659S TCGA-W5-AA2G-01A-11D-A417-09 F7 13 113770013 113770013 + Missense_Mutation SNP G T g.chr13:113770013G>T c.470G>T p.G157V TCGA-W5-AA38-01A-11D-A417-09 F8 23 154194709 154194709 + Silent SNP G A g.chrX:154194709G>A c.1263C>T p.P421P TCGA-3X-AAVA-01A-11D-A417-09 F9 23 138642998 138642998 + Silent SNP A G g.chrX:138642998A>G c.822A>G p.K274K TCGA-W5-AA2G-01A-11D-A417-09 FADS1 11 61584238 61584238 + Missense_Mutation SNP C A g.chr11:61584238C>A c.164G>T p.R55M TCGA-W5-AA39-01A-11D-A417-09 FAH 15 80464579 80464579 + Missense_Mutation SNP A G g.chr15:80464579A>G c.695A>G p.N232S TCGA-W5-AA39-01A-11D-A417-09 FAIM2 12 50294991 50294991 + Nonsense_Mutation SNP C A g.chr12:50294991C>A c.133G>T p.E45* TCGA-4G-AAZO-01A-12D-A417-09 FAIM3 1 207087180 207087180 + Silent SNP G A g.chr1:207087180G>A c.297C>T p.S99S TCGA-W5-AA2H-01A-31D-A417-09 FAM105A 5 14601188 14601188 + Missense_Mutation SNP G T g.chr5:14601188G>T c.179G>T p.C60F TCGA-W5-AA31-01A-11D-A417-09 FAM108B1 9 74489678 74489678 + Missense_Mutation SNP T C g.chr9:74489678T>C c.319A>G p.M107V TCGA-ZU-A8S4-01A-11D-A417-09 FAM111A 11 58920814 58920814 + Missense_Mutation SNP C A g.chr11:58920814C>A c.1673C>A p.A558D TCGA-W5-AA2Q-01A-11D-A417-09 FAM111B 11 58893430 58893430 + Silent SNP A G g.chr11:58893430A>G c.1860A>G p.V620V TCGA-4G-AAZT-01A-11D-A417-09 FAM111B 11 58891964 58891964 + Missense_Mutation SNP T A g.chr11:58891964T>A c.394T>A p.Y132N TCGA-W5-AA33-01A-11D-A417-09 FAM113A 20 2819363 2819363 + Missense_Mutation SNP C A g.chr20:2819363C>A c.473G>T p.R158L TCGA-4G-AAZO-01A-12D-A417-09 FAM117B 2 203630387 203630387 + Missense_Mutation SNP C T g.chr2:203630387C>T c.1670C>T p.T557I TCGA-W5-AA2W-01A-11D-A417-09 FAM118B 11 126131328 126131328 + Missense_Mutation SNP G T g.chr11:126131328G>T c.991G>T p.V331L TCGA-3X-AAVB-01A-31D-A417-09 FAM122C 23 133938244 133938244 + 5'Flank SNP G T g.chrX:133938244G>T TCGA-W5-AA2O-01A-11D-A417-09 FAM126B 2 201846200 201846200 + Silent SNP G T g.chr2:201846200G>T c.1386C>A p.G462G TCGA-3X-AAV9-01A-72D-A417-09 FAM127A 23 134166535 134166535 + Missense_Mutation SNP C A g.chrX:134166535C>A c.122C>A p.P41Q TCGA-W5-AA2U-01A-11D-A417-09 FAM129A 1 184868427 184868427 + Missense_Mutation SNP G A g.chr1:184868427G>A c.71C>T p.A24V TCGA-W5-AA2X-01A-11D-A417-09 FAM131C 1 16385007 16385007 + Silent SNP C T g.chr1:16385007C>T c.768G>A p.G256G TCGA-ZH-A8Y6-01A-11D-A417-09 FAM135A 6 71195946 71195946 + Intron SNP A G g.chr6:71195946A>G TCGA-W5-AA2Q-01A-11D-A417-09 FAM155A 13 108518801 108518801 + Missense_Mutation SNP G T g.chr13:108518801G>T c.144C>A p.F48L TCGA-ZH-A8Y6-01A-11D-A417-09 FAM164A 8 79590817 79590817 + Missense_Mutation SNP G T g.chr8:79590817G>T c.113G>T p.C38F TCGA-W5-AA31-01A-11D-A417-09 FAM169A 5 74091907 74091907 + Missense_Mutation SNP G T g.chr5:74091907G>T c.1208C>A p.A403E TCGA-W5-AA2U-01A-11D-A417-09 FAM173B 5 10227607 10227607 + Silent SNP G T g.chr5:10227607G>T c.648C>A p.G216G TCGA-ZD-A8I3-01A-11D-A417-09 FAM179A 2 29274737 29274737 + Silent SNP C T g.chr2:29274737C>T c.2838C>T p.S946S TCGA-ZU-A8S4-01A-11D-A417-09 FAM184A 6 119295656 119295656 + Missense_Mutation SNP A G g.chr6:119295656A>G c.2852T>C p.M951T TCGA-3X-AAVC-01A-21D-A417-09 FAM184A 6 119345170 119345170 + Missense_Mutation SNP C T g.chr6:119345170C>T c.968G>A p.C323Y TCGA-WD-A7RX-01A-12D-A417-09 FAM18B 17 18702239 18702239 + Missense_Mutation SNP T A g.chr17:18702239T>A c.445T>A p.F149I TCGA-W5-AA39-01A-11D-A417-09 FAM190A 4 91234071 91234071 + Missense_Mutation SNP G T g.chr4:91234071G>T c.1382G>T p.R461L TCGA-W5-AA2Z-01A-11D-A417-09 FAM193A 4 2698243 2698243 + Nonsense_Mutation SNP C T g.chr4:2698243C>T c.2557C>T p.Q853* TCGA-3X-AAV9-01A-72D-A417-09 FAM193A 4 2698298 2698298 + Missense_Mutation SNP G T g.chr4:2698298G>T c.2612G>T p.R871L TCGA-ZU-A8S4-01A-11D-A417-09 FAM194A 3 150421519 150421519 + Missense_Mutation SNP A T g.chr3:150421519A>T c.167T>A p.V56E TCGA-ZH-A8Y6-01A-11D-A417-09 FAM20A 17 66538202 66538202 + Missense_Mutation SNP G T g.chr17:66538202G>T c.1033C>A p.P345T TCGA-3X-AAVB-01A-31D-A417-09 FAM20B 1 179041172 179041172 + Missense_Mutation SNP G A g.chr1:179041172G>A c.1123G>A p.V375M TCGA-W5-AA38-01A-11D-A417-09 FAM35A 10 88911830 88911830 + Missense_Mutation SNP C A g.chr10:88911830C>A c.719C>A p.T240K TCGA-W5-AA2X-01A-11D-A417-09 FAM35A 10 88911830 88911830 + Missense_Mutation SNP C A g.chr10:88911830C>A c.719C>A p.T240K TCGA-ZH-A8Y2-01A-11D-A417-09 FAM35A 10 88946934 88946934 + Missense_Mutation SNP C T g.chr10:88946934C>T c.2285C>T p.A762V TCGA-ZH-A8Y4-01A-11D-A417-09 FAM38B 18 10718203 10718203 + Missense_Mutation SNP C T g.chr18:10718203C>T c.4910G>A p.G1637E TCGA-3X-AAVE-01A-11D-A417-09 FAM38B 18 10797478 10797478 + Missense_Mutation SNP T A g.chr18:10797478T>A c.1421A>T p.E474V TCGA-ZU-A8S4-01A-11D-A417-09 FAM45A 10 120867507 120867507 + Missense_Mutation SNP G T g.chr10:120867507G>T c.83G>T p.W28L TCGA-4G-AAZO-01A-12D-A417-09 FAM46A 6 82461728 82461742 + In_Frame_Del DEL CCGCCGAAGTCGCCG - g.chr6:82461728_82461742delCCGCCGAAGTCGCCG c.117_131delCGGCGACTTCGGCGG p.39_44GGDFGG>G TCGA-W5-AA2H-01A-31D-A417-09 FAM47C 23 37028705 37028705 + Missense_Mutation SNP A T g.chrX:37028705A>T c.2222A>T p.E741V TCGA-W5-AA2U-01A-11D-A417-09 FAM48A 13 37595675 37595675 + Missense_Mutation SNP G A g.chr13:37595675G>A c.1726C>T p.P576S TCGA-W5-AA2U-01A-11D-A417-09 FAM48A 13 37583918 37583918 + Missense_Mutation SNP G A g.chr13:37583918G>A c.2231C>T p.A744V TCGA-W5-AA39-01A-11D-A417-09 FAM50B 6 3850817 3850817 + Missense_Mutation SNP G A g.chr6:3850817G>A c.772G>A p.A258T TCGA-ZH-A8Y2-01A-11D-A417-09 FAM55C 3 101535686 101535686 + Missense_Mutation SNP G T g.chr3:101535686G>T c.970G>T p.G324W TCGA-W5-AA34-01A-11D-A417-09 FAM55C 3 101540335 101540335 + Missense_Mutation SNP G T g.chr3:101540335G>T c.1217G>T p.R406L TCGA-ZH-A8Y5-01A-11D-A417-09 FAM5C 1 190068073 190068073 + Missense_Mutation SNP C T g.chr1:190068073C>T c.1376G>A p.R459H TCGA-3X-AAVE-01A-11D-A417-09 FAM5C 1 190203603 190203603 + Missense_Mutation SNP G C g.chr1:190203603G>C c.623C>G p.T208R TCGA-WD-A7RX-01A-12D-A417-09 FAM64A 17 6351018 6351018 + Missense_Mutation SNP C T g.chr17:6351018C>T c.530C>T p.S177L TCGA-W5-AA39-01A-11D-A417-09 FAM65A 16 67572725 67572725 + Silent SNP G T g.chr16:67572725G>T c.267G>T p.L89L TCGA-4G-AAZT-01A-11D-A417-09 FAM65B 6 24836027 24836027 + Silent SNP G A g.chr6:24836027G>A c.2175C>T p.T725T TCGA-ZH-A8Y6-01A-11D-A417-09 FAM71A 1 212798867 212798867 + Missense_Mutation SNP G T g.chr1:212798867G>T c.648G>T p.Q216H TCGA-3X-AAVC-01A-21D-A417-09 FAM71A 1 212798528 212798528 + Missense_Mutation SNP G T g.chr1:212798528G>T c.309G>T p.Q103H TCGA-ZH-A8Y2-01A-11D-A417-09 FAM71B 5 156590510 156590510 + Missense_Mutation SNP C A g.chr5:156590510C>A c.766G>T p.G256W TCGA-W5-AA38-01A-11D-A417-09 FAM71B 5 156590618 156590618 + Missense_Mutation SNP G T g.chr5:156590618G>T c.658C>A p.P220T TCGA-ZH-A8Y6-01A-11D-A417-09 FAM71F2 7 128315770 128315770 + Silent SNP T C g.chr7:128315770T>C c.222T>C p.S74S TCGA-W5-AA2I-01A-32D-A417-09 FAM72A 1 206145504 206145504 + Missense_Mutation SNP T C g.chr1:206145504T>C c.281T>C p.L94P TCGA-ZD-A8I3-01A-11D-A417-09 FAM73A 1 78338699 78338699 + Missense_Mutation SNP G T g.chr1:78338699G>T c.1574G>T p.G525V TCGA-ZH-A8Y6-01A-11D-A417-09 FAM73A 1 78272787 78272787 + Splice_Site SNP G T g.chr1:78272787G>T TCGA-ZH-A8Y8-01A-51D-A417-09 FAM75A1 9 39358471 39358471 + Frame_Shift_Del DEL C - g.chr9:39358471delC c.709delC p.P237fs TCGA-ZH-A8Y6-01A-11D-A417-09 FAM75A1 9 39887722 39887722 + Frame_Shift_Del DEL C - g.chr9:39887722delC c.709delC p.P237fs TCGA-ZH-A8Y6-01A-11D-A417-09 FAM75A6 9 43627977 43627977 + Frame_Shift_Del DEL G - g.chr9:43627977delG c.710delC p.P237fs TCGA-ZH-A8Y6-01A-11D-A417-09 FAM82A2 15 41030190 41030190 + Missense_Mutation SNP G T g.chr15:41030190G>T c.1098C>A p.H366Q TCGA-W5-AA30-01A-31D-A417-09 FAM98B 15 38776827 38776827 + IGR SNP T A g.chr15:38776827T>A TCGA-W5-AA38-01A-11D-A417-09 FANCC 9 97934327 97934327 + Missense_Mutation SNP G T g.chr9:97934327G>T c.448C>A p.L150I TCGA-4G-AAZO-01A-12D-A417-09 FANCC 9 98011555 98011555 + Missense_Mutation SNP C T g.chr9:98011555C>T c.19G>A p.D7N TCGA-WD-A7RX-01A-12D-A417-09 FANCI 15 89856160 89856160 + Missense_Mutation SNP C T g.chr15:89856160C>T c.3677C>T p.T1226M TCGA-W5-AA2Z-01A-11D-A417-09 FAR2 12 29469923 29469923 + Missense_Mutation SNP C T g.chr12:29469923C>T c.1105C>T p.R369W TCGA-W5-AA2Q-01A-11D-A417-09 FARP2 2 242433442 242433442 + Missense_Mutation SNP G A g.chr2:242433442G>A c.3067G>A p.G1023R TCGA-W5-AA39-01A-11D-A417-09 FARS2 6 5545474 5545474 + Silent SNP C T g.chr6:5545474C>T c.966C>T p.I322I TCGA-ZD-A8I3-01A-11D-A417-09 FARSB 2 223497945 223497945 + Missense_Mutation SNP C T g.chr2:223497945C>T c.688G>A p.V230I TCGA-W5-AA2X-01A-11D-A417-09 FASTKD3 5 7867809 7867809 + Missense_Mutation SNP C T g.chr5:7867809C>T c.388G>A p.A130T TCGA-W5-AA38-01A-11D-A417-09 FAT1 4 187542176 187542176 + Missense_Mutation SNP G A g.chr4:187542176G>A c.5564C>T p.P1855L TCGA-W5-AA2O-01A-11D-A417-09 FAT1 4 187539158 187539158 + Missense_Mutation SNP G A g.chr4:187539158G>A c.8582C>T p.A2861V TCGA-W5-AA31-01A-11D-A417-09 FAT1 4 187525601 187525601 + Missense_Mutation SNP G A g.chr4:187525601G>A c.10478C>T p.P3493L TCGA-W5-AA34-01A-11D-A417-09 FAT1 4 187549428 187549428 + Missense_Mutation SNP C A g.chr4:187549428C>A c.4690G>T p.A1564S TCGA-WD-A7RX-01A-12D-A417-09 FAT2 5 150948137 150948137 + Missense_Mutation SNP A G g.chr5:150948137A>G c.356T>C p.I119T TCGA-W5-AA2U-01A-11D-A417-09 FAT3 11 92532860 92532860 + Silent SNP T C g.chr11:92532860T>C c.6681T>C p.P2227P TCGA-W5-AA2O-01A-11D-A417-09 FAT3 11 92087946 92087946 + Missense_Mutation SNP G T g.chr11:92087946G>T c.2668G>T p.D890Y TCGA-W5-AA2R-01A-11D-A417-09 FAT3 11 92534618 92534618 + Silent SNP C A g.chr11:92534618C>A c.8439C>A p.V2813V TCGA-W5-AA2Z-01A-11D-A417-09 FAT3 11 92599977 92599977 + Missense_Mutation SNP G T g.chr11:92599977G>T c.11729G>T p.R3910L TCGA-W6-AA0S-01A-11D-A417-09 FAT4 4 126336935 126336935 + Missense_Mutation SNP G T g.chr4:126336935G>T c.6817G>T p.G2273W TCGA-W5-AA2X-01A-11D-A417-09 FAT4 4 126373374 126373374 + Missense_Mutation SNP C T g.chr4:126373374C>T c.11203C>T p.R3735C TCGA-YR-A95A-01A-12D-A417-09 FBL 19 40331279 40331279 + Silent SNP G A g.chr19:40331279G>A c.159C>T p.G53G TCGA-W5-AA39-01A-11D-A417-09 FBN2 5 127714472 127714472 + Missense_Mutation SNP G T g.chr5:127714472G>T c.1715C>A p.A572E TCGA-3X-AAV9-01A-72D-A417-09 FBN2 5 127641262 127641262 + Missense_Mutation SNP C A g.chr5:127641262C>A c.5615G>T p.G1872V TCGA-4G-AAZT-01A-11D-A417-09 FBN2 5 127624882 127624882 + Nonsense_Mutation SNP C A g.chr5:127624882C>A c.6574G>T p.G2192* TCGA-W5-AA2I-01A-32D-A417-09 FBN3 19 8150345 8150345 + Missense_Mutation SNP C T g.chr19:8150345C>T c.6989G>A p.R2330Q TCGA-3X-AAVE-01A-11D-A417-09 FBN3 19 8191217 8191217 + Missense_Mutation SNP G A g.chr19:8191217G>A c.2569C>T p.R857W TCGA-W5-AA2O-01A-11D-A417-09 FBP1 9 97367846 97367846 + Missense_Mutation SNP G C g.chr9:97367846G>C c.718C>G p.P240A TCGA-ZH-A8Y6-01A-11D-A417-09 FBXL13 7 102518847 102518847 + Missense_Mutation SNP C A g.chr7:102518847C>A c.1439G>T p.R480M TCGA-WD-A7RX-01A-12D-A417-09 FBXL4 6 99323408 99323408 + Missense_Mutation SNP C T g.chr6:99323408C>T c.1585G>A p.A529T TCGA-ZH-A8Y8-01A-51D-A417-09 FBXO10 9 37537628 37537628 + Silent SNP G T g.chr9:37537628G>T c.898C>A p.R300R TCGA-W5-AA2W-01A-11D-A417-09 FBXO2 1 11710798 11710798 + Missense_Mutation SNP T G g.chr1:11710798T>G c.116A>C p.E39A TCGA-W5-AA2H-01A-31D-A417-09 FBXO24 7 100198331 100198331 + Missense_Mutation SNP G A g.chr7:100198331G>A c.1552G>A p.A518T TCGA-ZH-A8Y1-01A-11D-A417-09 FBXO28 1 224345385 224345385 + Silent SNP A G g.chr1:224345385A>G c.1044A>G p.R348R TCGA-W5-AA39-01A-11D-A417-09 FBXO42 1 16632409 16632409 + Missense_Mutation SNP C T g.chr1:16632409C>T c.256G>A p.A86T TCGA-W5-AA2G-01A-11D-A417-09 FBXO5 6 153296425 153296425 + Silent SNP A G g.chr6:153296425A>G c.435T>C p.S145S TCGA-W5-AA39-01A-11D-A417-09 FBXO5 6 153296461 153296461 + Missense_Mutation SNP T C g.chr6:153296461T>C c.399A>G p.I133M TCGA-W5-AA39-01A-11D-A417-09 FBXO6 1 11733376 11733376 + Missense_Mutation SNP A C g.chr1:11733376A>C c.552A>C p.K184N TCGA-W5-AA39-01A-11D-A417-09 FBXW2 9 123550286 123550286 + Missense_Mutation SNP G T g.chr9:123550286G>T c.251C>A p.S84Y TCGA-4G-AAZO-01A-12D-A417-09 FBXW7 4 153250882 153250882 + Missense_Mutation SNP C T g.chr4:153250882C>T c.1178G>A p.R393Q TCGA-W5-AA30-01A-31D-A417-09 FCGBP 19 40419710 40419710 + Missense_Mutation SNP C T g.chr19:40419710C>T c.3284G>A p.R1095H TCGA-WD-A7RX-01A-12D-A417-09 FCGBP 19 40360905 40360905 + Missense_Mutation SNP C T g.chr19:40360905C>T c.15503G>A p.C5168Y TCGA-ZH-A8Y8-01A-51D-A417-09 FCGR1B 1 120934442 120934442 + Frame_Shift_Del DEL T - g.chr1:120934442delT c.246delA p.E82fs TCGA-W5-AA39-01A-11D-A417-09 FCGR3B 1 161595956 161595956 + Intron SNP C T g.chr1:161595956C>T TCGA-3X-AAVC-01A-21D-A417-09 FCHO2 5 72378651 72378651 + Splice_Site SNP A T g.chr5:72378651A>T c.2244A>T p.G748G TCGA-W5-AA39-01A-11D-A417-09 FCRLA 1 161682007 161682007 + Splice_Site SNP G T g.chr1:161682007G>T c.834G>T p.Q278H TCGA-3X-AAV9-01A-72D-A417-09 FDXR 17 72859251 72859251 + Missense_Mutation SNP G T g.chr17:72859251G>T c.1292C>A p.P431H TCGA-4G-AAZO-01A-12D-A417-09 FDXR 17 72860068 72860068 + Missense_Mutation SNP G T g.chr17:72860068G>T c.1124C>A p.S375Y TCGA-W5-AA2X-01A-11D-A417-09 FEN1 11 61563066 61563066 + 5'Flank SNP G A g.chr11:61563066G>A TCGA-3X-AAV9-01A-72D-A417-09 FER 5 108382829 108382829 + Silent SNP C A g.chr5:108382829C>A c.1854C>A p.P618P TCGA-4G-AAZO-01A-12D-A417-09 FER1L5 2 97370411 97370411 + IGR SNP T C g.chr2:97370411T>C TCGA-W5-AA2Q-01A-11D-A417-09 FER1L6 8 125081641 125081641 + Silent SNP G T g.chr8:125081641G>T c.3759G>T p.G1253G TCGA-W5-AA2H-01A-31D-A417-09 FER1L6 8 125110056 125110056 + Silent SNP T G g.chr8:125110056T>G c.4815T>G p.T1605T TCGA-W5-AA39-01A-11D-A417-09 FER1L6 8 124989685 124989685 + Missense_Mutation SNP C T g.chr8:124989685C>T c.899C>T p.A300V TCGA-YR-A95A-01A-12D-A417-09 FER1L6 8 124989720 124989720 + Nonsense_Mutation SNP G T g.chr8:124989720G>T c.934G>T p.E312* TCGA-ZH-A8Y6-01A-11D-A417-09 FERD3L 7 19184752 19184752 + Silent SNP C T g.chr7:19184752C>T c.234G>A p.E78E TCGA-3X-AAVE-01A-11D-A417-09 FERD3L 7 19184746 19184746 + Silent SNP C T g.chr7:19184746C>T c.240G>A p.E80E TCGA-W5-AA2G-01A-11D-A417-09 FERD3L 7 19184746 19184746 + Silent SNP C T g.chr7:19184746C>T c.240G>A p.E80E TCGA-W5-AA30-01A-31D-A417-09 FERMT1 20 6093271 6093271 + Splice_Site SNP C T g.chr20:6093271C>T TCGA-W5-AA30-01A-31D-A417-09 FERMT3 11 63986820 63986820 + Missense_Mutation SNP C T g.chr11:63986820C>T c.884C>T p.A295V TCGA-W5-AA39-01A-11D-A417-09 FEZ1 11 125359627 125359627 + Missense_Mutation SNP C G g.chr11:125359627C>G c.47G>C p.R16P TCGA-W5-AA2I-01A-32D-A417-09 FEZF1 7 121943286 121943286 + Missense_Mutation SNP C T g.chr7:121943286C>T c.881G>A p.G294E TCGA-W5-AA2R-01A-11D-A417-09 FFAR3 19 35850647 35850647 + Silent SNP C T g.chr19:35850647C>T c.855C>T p.A285A TCGA-ZH-A8Y5-01A-11D-A417-09 FGB 4 155491687 155491687 + Missense_Mutation SNP G T g.chr4:155491687G>T c.1361G>T p.W454L TCGA-4G-AAZO-01A-12D-A417-09 FGD4 12 32786595 32786599 + Frame_Shift_Del DEL AAGAA - g.chr12:32786595_32786599delAAGAA c.1874_1878delAAGAA p.EE625fs TCGA-WD-A7RX-01A-12D-A417-09 FGF16 23 76709751 76709751 + Splice_Site SNP G A g.chrX:76709751G>A c.104G>A p.R35Q TCGA-3X-AAVC-01A-21D-A417-09 FGFR1OP 6 167447400 167447400 + Missense_Mutation SNP G A g.chr6:167447400G>A c.1066G>A p.G356S TCGA-ZH-A8Y5-01A-11D-A417-09 FGFR2 10 123278298 123278299 + Intron INS - GAA g.chr10:123278298_123278299insGAA TCGA-W5-AA2O-01A-11D-A417-09 FGFR2 10 123279605 123279605 + Missense_Mutation SNP A C g.chr10:123279605A>C c.827T>G p.F276C TCGA-W5-AA34-01A-11D-A417-09 FGFRL1 4 1018129 1018129 + Missense_Mutation SNP G A g.chr4:1018129G>A c.749G>A p.G250D TCGA-ZU-A8S4-01A-11D-A417-09 FHOD3 18 34335227 34335227 + Missense_Mutation SNP G A g.chr18:34335227G>A c.3802G>A p.A1268T TCGA-3X-AAVC-01A-21D-A417-09 FHOD3 18 34205526 34205526 + Missense_Mutation SNP G T g.chr18:34205526G>T c.1010G>T p.G337V TCGA-WD-A7RX-01A-12D-A417-09 FIBIN 11 27016617 27016617 + Missense_Mutation SNP G T g.chr11:27016617G>T c.544G>T p.G182W TCGA-W5-AA38-01A-11D-A417-09 FIG4 6 110059612 110059612 + Missense_Mutation SNP G A g.chr6:110059612G>A c.731G>A p.R244H TCGA-WD-A7RX-01A-12D-A417-09 FIGNL1 7 50513283 50513283 + Missense_Mutation SNP G T g.chr7:50513283G>T c.1703C>A p.P568Q TCGA-4G-AAZO-01A-12D-A417-09 FILIP1L 3 99568935 99568935 + Missense_Mutation SNP G T g.chr3:99568935G>T c.1585C>A p.Q529K TCGA-W5-AA2G-01A-11D-A417-09 FILIP1L 3 99568867 99568867 + Silent SNP G C g.chr3:99568867G>C c.1653C>G p.T551T TCGA-W5-AA2X-01A-11D-A417-09 FIP1L1 4 54257252 54257252 + Silent SNP G A g.chr4:54257252G>A c.582G>A p.R194R TCGA-3X-AAVC-01A-21D-A417-09 FITM1 14 24600887 24600887 + Nonsense_Mutation SNP G T g.chr14:24600887G>T c.115G>T p.G39* TCGA-ZH-A8Y8-01A-51D-A417-09 FKBP8 19 18648519 18648519 + Silent SNP C T g.chr19:18648519C>T c.834G>A p.L278L TCGA-W5-AA39-01A-11D-A417-09 FKRP 19 47258782 47258782 + Silent SNP G A g.chr19:47258782G>A c.75G>A p.S25S TCGA-3X-AAVE-01A-11D-A417-09 FLG 1 152281163 152281163 + Missense_Mutation SNP G A g.chr1:152281163G>A c.6199C>T p.P2067S TCGA-3X-AAVB-01A-31D-A417-09 FLG 1 152283924 152283924 + Silent SNP G A g.chr1:152283924G>A c.3438C>T p.H1146H TCGA-4G-AAZT-01A-11D-A417-09 FLG 1 152279697 152279698 + Missense_Mutation DNP CT TG g.chr1:152279697_152279698CT>TG c.7664_7665AG>CA p.E2555A TCGA-ZH-A8Y2-01A-11D-A417-09 FLG2 1 152323970 152323970 + Missense_Mutation SNP C T g.chr1:152323970C>T c.6292G>A p.A2098T TCGA-W5-AA38-01A-11D-A417-09 FLII 17 18156676 18156676 + Missense_Mutation SNP T A g.chr17:18156676T>A c.952A>T p.N318Y TCGA-W5-AA39-01A-11D-A417-09 FLJ10357 14 21542360 21542360 + Silent SNP G A g.chr14:21542360G>A c.471G>A p.R157R TCGA-3X-AAVB-01A-31D-A417-09 FLJ46321 9 84608503 84608503 + Missense_Mutation SNP A G g.chr9:84608503A>G c.3118A>G p.T1040A TCGA-W5-AA2R-01A-11D-A417-09 FLNA 23 153595859 153595859 + Missense_Mutation SNP C A g.chrX:153595859C>A c.774G>T p.M258I TCGA-3X-AAVB-01A-31D-A417-09 FLNB 3 58095323 58095323 + Silent SNP C T g.chr3:58095323C>T c.2220C>T p.S740S TCGA-3X-AAV9-01A-72D-A417-09 FLNB 3 58090844 58090844 + Nonsense_Mutation SNP C T g.chr3:58090844C>T c.1648C>T p.Q550* TCGA-3X-AAVB-01A-31D-A417-09 FLNC 7 128496613 128496613 + Silent SNP G T g.chr7:128496613G>T c.7293G>T p.V2431V TCGA-W5-AA2Z-01A-11D-A417-09 FLRT3 20 14307246 14307246 + Missense_Mutation SNP G T g.chr20:14307246G>T c.907C>A p.R303S TCGA-W5-AA31-01A-11D-A417-09 FLT3 13 28631553 28631553 + Nonsense_Mutation SNP C A g.chr13:28631553C>A c.415G>T p.G139* TCGA-W5-AA34-01A-11D-A417-09 FLT3 13 28610128 28610128 + Silent SNP C A g.chr13:28610128C>A c.1362G>T p.S454S TCGA-YR-A95A-01A-12D-A417-09 FMN1 15 33256352 33256352 + Missense_Mutation SNP T G g.chr15:33256352T>G c.3094A>C p.K1032Q TCGA-W5-AA39-01A-11D-A417-09 FMN2 1 240371625 240371625 + Silent SNP G A g.chr1:240371625G>A c.3513G>A p.A1171A TCGA-4G-AAZT-01A-11D-A417-09 FMN2 1 240374462 240374462 + Nonsense_Mutation SNP T A g.chr1:240374462T>A c.3992T>A p.L1331* TCGA-4G-AAZT-01A-11D-A417-09 FMN2 1 240255531 240255531 + Missense_Mutation SNP G A g.chr1:240255531G>A c.122G>A p.G41D TCGA-W5-AA2X-01A-11D-A417-09 FMN2 1 240371322 240371322 + Silent SNP C T g.chr1:240371322C>T c.3210C>T p.P1070P TCGA-W5-AA31-01A-11D-A417-09 FMN2 1 240371688 240371688 + Silent SNP A T g.chr1:240371688A>T c.3576A>T p.G1192G TCGA-WD-A7RX-01A-12D-A417-09 FMN2 1 240370270 240370270 + Missense_Mutation SNP G T g.chr1:240370270G>T c.2158G>T p.D720Y TCGA-ZH-A8Y1-01A-11D-A417-09 FMN2 1 240341360 240341360 + Missense_Mutation SNP C T g.chr1:240341360C>T c.1922C>T p.A641V TCGA-ZH-A8Y2-01A-11D-A417-09 FMNL1 17 43322776 43322776 + Missense_Mutation SNP C T g.chr17:43322776C>T c.2885C>T p.T962M TCGA-4G-AAZT-01A-11D-A417-09 FN1 2 216271210 216271210 + Missense_Mutation SNP G T g.chr2:216271210G>T c.2737C>A p.L913M TCGA-W5-AA2G-01A-11D-A417-09 FN1 2 216242924 216242924 + Missense_Mutation SNP G T g.chr2:216242924G>T c.5411C>A p.A1804D TCGA-W5-AA2T-01A-12D-A417-09 FN1 2 216243985 216243985 + Silent SNP G A g.chr2:216243985G>A c.5217C>T p.S1739S TCGA-YR-A95A-01A-12D-A417-09 FNBP4 11 47754203 47754203 + Missense_Mutation SNP C T g.chr11:47754203C>T c.1706G>A p.R569Q TCGA-4G-AAZT-01A-11D-A417-09 FNBP4 11 47744682 47744682 + Missense_Mutation SNP G T g.chr11:47744682G>T c.2651C>A p.T884N TCGA-W5-AA2R-01A-11D-A417-09 FNDC1 6 159646709 159646709 + Missense_Mutation SNP G T g.chr6:159646709G>T c.1027G>T p.D343Y TCGA-W5-AA2Z-01A-11D-A417-09 FNDC3A 13 49719949 49719949 + Silent SNP C A g.chr13:49719949C>A c.855C>A p.T285T TCGA-3X-AAVE-01A-11D-A417-09 FNDC3A 13 49688844 49688844 + Missense_Mutation SNP G T g.chr13:49688844G>T c.229G>T p.V77L TCGA-W5-AA34-01A-11D-A417-09 FOLR3 11 71850156 71850156 + Missense_Mutation SNP C A g.chr11:71850156C>A c.440C>A p.S147Y TCGA-W5-AA2X-01A-11D-A417-09 FOSL1 11 65664318 65664318 + Missense_Mutation SNP C A g.chr11:65664318C>A c.259G>T p.G87W TCGA-4G-AAZO-01A-12D-A417-09 FOXA2 20 22563329 22563329 + Missense_Mutation SNP T G g.chr20:22563329T>G c.533A>C p.K178T TCGA-W5-AA39-01A-11D-A417-09 FOXF1 16 86544554 86544554 + Missense_Mutation SNP G A g.chr16:86544554G>A c.379G>A p.A127T TCGA-ZH-A8Y5-01A-11D-A417-09 FOXK1 7 4796750 4796750 + Missense_Mutation SNP G T g.chr7:4796750G>T c.1176G>T p.Q392H TCGA-4G-AAZO-01A-12D-A417-09 FOXK1 7 4722453 4722453 + Missense_Mutation SNP G T g.chr7:4722453G>T c.514G>T p.G172W TCGA-W5-AA2Z-01A-11D-A417-09 FOXK1 7 4796694 4796694 + Missense_Mutation SNP G T g.chr7:4796694G>T c.1120G>T p.G374W TCGA-W5-AA38-01A-11D-A417-09 FOXN3 14 89629228 89629228 + Missense_Mutation SNP G T g.chr14:89629228G>T c.1003C>A p.H335N TCGA-WD-A7RX-01A-12D-A417-09 FOXP2 7 114329937 114329937 + Missense_Mutation SNP G A g.chr7:114329937G>A c.2104G>A p.D702N TCGA-W5-AA2G-01A-11D-A417-09 FOXP2 7 114269938 114269949 + In_Frame_Del DEL CAGCAGCAACAA - g.chr7:114269938_114269949delCAGCAGCAACAA c.475_486delCAGCAGCAACAA p.QQQQ187del TCGA-ZH-A8Y4-01A-11D-A417-09 FOXS1 20 30433234 30433234 + Missense_Mutation SNP G A g.chr20:30433234G>A c.112C>T p.R38W TCGA-ZH-A8Y4-01A-11D-A417-09 FPR1 19 52249678 52249678 + Missense_Mutation SNP C A g.chr19:52249678C>A c.570G>T p.R190S TCGA-W5-AA30-01A-31D-A417-09 FRAS1 4 79204119 79204119 + Nonsense_Mutation SNP C A g.chr4:79204119C>A c.1253C>A p.S418* TCGA-W5-AA39-01A-11D-A417-09 FRAS1 4 79360216 79360216 + Missense_Mutation SNP A G g.chr4:79360216A>G c.5527A>G p.T1843A TCGA-W5-AA39-01A-11D-A417-09 FREM2 13 39454561 39454561 + Silent SNP C T g.chr13:39454561C>T c.9147C>T p.S3049S TCGA-ZH-A8Y5-01A-11D-A417-09 FREM2 13 39433640 39433640 + Missense_Mutation SNP G T g.chr13:39433640G>T c.7432G>T p.V2478L TCGA-ZU-A8S4-01A-11D-A417-09 FRG1 4 190884267 190884267 + Missense_Mutation SNP G A g.chr4:190884267G>A c.760G>A p.D254N TCGA-3X-AAVB-01A-31D-A417-09 FRG1 4 190884267 190884267 + Missense_Mutation SNP G A g.chr4:190884267G>A c.760G>A p.D254N TCGA-ZU-A8S4-01A-11D-A417-09 FRY 13 32653148 32653148 + Missense_Mutation SNP G T g.chr13:32653148G>T c.248G>T p.R83L TCGA-W5-AA2O-01A-11D-A417-09 FRY 13 32753081 32753081 + Missense_Mutation SNP C A g.chr13:32753081C>A c.2782C>A p.P928T TCGA-ZH-A8Y2-01A-11D-A417-09 FSCN1 7 5632703 5632703 + Missense_Mutation SNP T C g.chr7:5632703T>C c.136T>C p.W46R TCGA-W5-AA39-01A-11D-A417-09 FSD1 19 4323106 4323106 + Missense_Mutation SNP C T g.chr19:4323106C>T c.1163C>T p.A388V TCGA-W5-AA2Z-01A-11D-A417-09 FSHB 11 30255127 30255127 + Missense_Mutation SNP A G g.chr11:30255127A>G c.170A>G p.Y57C TCGA-W5-AA39-01A-11D-A417-09 FSIP2 2 186666462 186666462 + Missense_Mutation SNP A T g.chr2:186666462A>T c.12429A>T p.L4143F TCGA-W5-AA38-01A-11D-A417-09 FSIP2 2 186661056 186661056 + Missense_Mutation SNP C A g.chr2:186661056C>A c.9193C>A p.Q3065K TCGA-ZU-A8S4-01A-11D-A417-09 FST 5 52779381 52779381 + Missense_Mutation SNP A G g.chr5:52779381A>G c.325A>G p.N109D TCGA-W5-AA39-01A-11D-A417-09 FSTL4 5 132561381 132561381 + Silent SNP T G g.chr5:132561381T>G c.1146A>C p.S382S TCGA-W5-AA39-01A-11D-A417-09 FTH1 11 61734852 61734852 + Missense_Mutation SNP C A g.chr11:61734852C>A c.46G>T p.D16Y TCGA-4G-AAZT-01A-11D-A417-09 FTH1 11 61734852 61734852 + Missense_Mutation SNP C A g.chr11:61734852C>A c.46G>T p.D16Y TCGA-W5-AA2W-01A-11D-A417-09 FTH1 11 61734852 61734852 + Missense_Mutation SNP C A g.chr11:61734852C>A c.46G>T p.D16Y TCGA-W5-AA2Z-01A-11D-A417-09 FTSJD2 6 37441251 37441251 + Silent SNP T C g.chr6:37441251T>C c.1695T>C p.T565T TCGA-W5-AA39-01A-11D-A417-09 FTSJD2 6 37421057 37421057 + Missense_Mutation SNP G A g.chr6:37421057G>A c.746G>A p.R249H TCGA-WD-A7RX-01A-12D-A417-09 FUK 16 70497537 70497537 + Missense_Mutation SNP C T g.chr16:70497537C>T c.94C>T p.R32W TCGA-W5-AA2X-01A-11D-A417-09 FURIN 15 91421361 91421361 + Splice_Site SNP G T g.chr15:91421361G>T TCGA-4G-AAZO-01A-12D-A417-09 FUS 16 31195693 31195698 + In_Frame_Del DEL GGTGGA - g.chr16:31195693_31195698delGGTGGA c.499_504delGGTGGA p.GG173del TCGA-W5-AA39-01A-11D-A417-09 FUS 16 31201095 31201095 + Missense_Mutation SNP C G g.chr16:31201095C>G c.1046C>G p.A349G TCGA-W5-AA39-01A-11D-A417-09 FUT6 19 5831808 5831808 + Missense_Mutation SNP C A g.chr19:5831808C>A c.771G>T p.E257D TCGA-ZH-A8Y8-01A-51D-A417-09 FUZ 19 50314691 50314691 + Missense_Mutation SNP C A g.chr19:50314691C>A c.421G>T p.D141Y TCGA-W5-AA39-01A-11D-A417-09 FYTTD1 3 197500335 197500335 + Missense_Mutation SNP C T g.chr3:197500335C>T c.559C>T p.R187C TCGA-W5-AA38-01A-11D-A417-09 FZD1 7 90894459 90894459 + Silent SNP A G g.chr7:90894459A>G c.264A>G p.Q88Q TCGA-W5-AA2U-01A-11D-A417-09 FZD1 7 90896134 90896134 + Missense_Mutation SNP G T g.chr7:90896134G>T c.1939G>T p.V647F TCGA-W5-AA33-01A-11D-A417-09 FZD10 12 130648884 130648884 + Missense_Mutation SNP G A g.chr12:130648884G>A c.1397G>A p.R466H TCGA-W5-AA30-01A-31D-A417-09 FZD5 2 208632294 208632294 + Nonsense_Mutation SNP G T g.chr2:208632294G>T c.1170C>A p.C390* TCGA-ZH-A8Y1-01A-11D-A417-09 FZD8 10 35929045 35929045 + Missense_Mutation SNP G C g.chr10:35929045G>C c.1313C>G p.S438W TCGA-W5-AA2Q-01A-11D-A417-09 G3BP2 4 76582169 76582169 + Missense_Mutation SNP G T g.chr4:76582169G>T c.381C>A p.H127Q TCGA-W5-AA2Q-01A-11D-A417-09 GABBR1 6 29572676 29572676 + Missense_Mutation SNP G T g.chr6:29572676G>T c.2529C>A p.F843L TCGA-ZH-A8Y6-01A-11D-A417-09 GABRA1 5 161324315 161324315 + Missense_Mutation SNP G T g.chr5:161324315G>T c.1258G>T p.D420Y TCGA-3X-AAVB-01A-31D-A417-09 GABRA2 4 46263983 46263983 + Missense_Mutation SNP C A g.chr4:46263983C>A c.1019G>T p.R340I TCGA-W5-AA38-01A-11D-A417-09 GABRA4 4 46930297 46930297 + Missense_Mutation SNP T C g.chr4:46930297T>C c.1610A>G p.Y537C TCGA-W5-AA39-01A-11D-A417-09 GABRA4 4 46930465 46930465 + Nonsense_Mutation SNP G T g.chr4:46930465G>T c.1442C>A p.S481* TCGA-ZH-A8Y8-01A-51D-A417-09 GABRB3 15 26812850 26812850 + Missense_Mutation SNP C A g.chr15:26812850C>A c.713G>T p.R238L TCGA-3X-AAV9-01A-72D-A417-09 GABRB3 15 26793037 26793037 + Missense_Mutation SNP A C g.chr15:26793037A>C c.1325T>G p.L442R TCGA-W5-AA2I-01A-32D-A417-09 GABRP 5 170222402 170222402 + Missense_Mutation SNP C A g.chr5:170222402C>A c.431C>A p.S144Y TCGA-W5-AA2G-01A-11D-A417-09 GAD1 2 171702096 171702096 + Missense_Mutation SNP G A g.chr2:171702096G>A c.832G>A p.A278T TCGA-W5-AA2T-01A-12D-A417-09 GAD1 2 171702544 171702544 + Nonsense_Mutation SNP G T g.chr2:171702544G>T c.973G>T p.E325* TCGA-ZH-A8Y1-01A-11D-A417-09 GAGE12J 23 49179682 49179682 + Nonsense_Mutation SNP C T g.chrX:49179682C>T c.10C>T p.R4* TCGA-3X-AAVB-01A-31D-A417-09 GAL3ST2 2 242741335 242741335 + Missense_Mutation SNP G A g.chr2:242741335G>A c.259G>A p.G87S TCGA-W5-AA2U-01A-11D-A417-09 GALM 2 38958894 38958894 + Missense_Mutation SNP G T g.chr2:38958894G>T c.794G>T p.S265I TCGA-ZH-A8Y4-01A-11D-A417-09 GALNT11 7 151802439 151802439 + Silent SNP C T g.chr7:151802439C>T c.696C>T p.G232G TCGA-3X-AAVC-01A-21D-A417-09 GALNT11 7 151818669 151818669 + Silent SNP C T g.chr7:151818669C>T c.1734C>T p.C578C TCGA-W5-AA2O-01A-11D-A417-09 GALNT11 7 151800310 151800310 + Missense_Mutation SNP C T g.chr7:151800310C>T c.533C>T p.T178M TCGA-WD-A7RX-01A-12D-A417-09 GALNT14 2 31168695 31168695 + Silent SNP G A g.chr2:31168695G>A c.696C>T p.N232N TCGA-3X-AAV9-01A-72D-A417-09 GALNT14 2 31168651 31168651 + Missense_Mutation SNP C A g.chr2:31168651C>A c.740G>T p.G247V TCGA-4G-AAZO-01A-12D-A417-09 GALNT14 2 31178586 31178586 + Silent SNP A T g.chr2:31178586A>T c.552T>A p.I184I TCGA-W5-AA2R-01A-11D-A417-09 GALNT4 12 89916734 89916734 + Nonsense_Mutation SNP C T g.chr12:89916734C>T c.1593G>A p.W531* TCGA-W5-AA39-01A-11D-A417-09 GALNT4 12 89917207 89917207 + Missense_Mutation SNP T C g.chr12:89917207T>C c.1120A>G p.N374D TCGA-W5-AA39-01A-11D-A417-09 GALNT5 2 158157491 158157491 + Missense_Mutation SNP A G g.chr2:158157491A>G c.2419A>G p.I807V TCGA-ZH-A8Y1-01A-11D-A417-09 GALNTL5 7 151680104 151680104 + Silent SNP G A g.chr7:151680104G>A c.402G>A p.P134P TCGA-3X-AAV9-01A-72D-A417-09 GALNTL5 7 151699823 151699823 + Missense_Mutation SNP G T g.chr7:151699823G>T c.683G>T p.S228I TCGA-ZD-A8I3-01A-11D-A417-09 GALNTL6 4 173804049 173804049 + Silent SNP C T g.chr4:173804049C>T c.1032C>T p.I344I TCGA-W5-AA38-01A-11D-A417-09 GANC 15 42644326 42644326 + Missense_Mutation SNP C T g.chr15:42644326C>T c.2734C>T p.R912C TCGA-4G-AAZT-01A-11D-A417-09 GAPVD1 9 128094335 128094335 + Silent SNP G T g.chr9:128094335G>T c.2304G>T p.V768V TCGA-W5-AA39-01A-11D-A417-09 GARNL3 9 130152985 130152985 + Missense_Mutation SNP C T g.chr9:130152985C>T c.2809C>T p.R937W TCGA-ZU-A8S4-01A-11D-A417-09 GARS 7 30662040 30662040 + Silent SNP C T g.chr7:30662040C>T c.1575C>T p.C525C TCGA-4G-AAZT-01A-11D-A417-09 GART 21 34889332 34889332 + Missense_Mutation SNP G T g.chr21:34889332G>T c.2071C>A p.P691T TCGA-W5-AA2O-01A-11D-A417-09 GAS7 17 9862568 9862568 + Missense_Mutation SNP A G g.chr17:9862568A>G c.476T>C p.L159P TCGA-W5-AA33-01A-11D-A417-09 GATA3 10 8100409 8100409 + Missense_Mutation SNP G T g.chr10:8100409G>T c.383G>T p.G128V TCGA-W5-AA2I-01A-32D-A417-09 GATA3 10 8100385 8100385 + Missense_Mutation SNP C T g.chr10:8100385C>T c.359C>T p.T120M TCGA-W5-AA2Q-01A-11D-A417-09 GATAD1 7 92078113 92078113 + Missense_Mutation SNP A T g.chr7:92078113A>T c.297A>T p.K99N TCGA-W5-AA39-01A-11D-A417-09 GATAD2A 19 19576284 19576284 + Missense_Mutation SNP G A g.chr19:19576284G>A c.130G>A p.G44R TCGA-W5-AA30-01A-31D-A417-09 GBE1 3 81539564 81539564 + Silent SNP C T g.chr3:81539564C>T c.2103G>A p.P701P TCGA-W6-AA0S-01A-11D-A417-09 GBF1 10 104117876 104117876 + Missense_Mutation SNP G A g.chr10:104117876G>A c.720G>A p.M240I TCGA-4G-AAZO-01A-12D-A417-09 GBF1 10 104123466 104123466 + Splice_Site SNP G T g.chr10:104123466G>T TCGA-W5-AA34-01A-11D-A417-09 GBF1 10 104121537 104121537 + Missense_Mutation SNP G A g.chr10:104121537G>A c.1551G>A p.M517I TCGA-ZH-A8Y6-01A-11D-A417-09 GBP1 1 89528730 89528730 + Missense_Mutation SNP T C g.chr1:89528730T>C c.188A>G p.K63R TCGA-3X-AAVE-01A-11D-A417-09 GBP4 1 89650997 89650997 + Silent SNP A T g.chr1:89650997A>T c.1863T>A p.T621T TCGA-YR-A95A-01A-12D-A417-09 GBP7 1 89616212 89616212 + Silent SNP G T g.chr1:89616212G>T c.672C>A p.I224I TCGA-W5-AA2H-01A-31D-A417-09 GC 4 72629209 72629228 + Splice_Site DEL AGCTGGAGTCTCTAGAAAAC - g.chr4:72629209_72629228delAGCTGGAGTCTCTAGAAAAC c.607_617delGTTTTCTAGAGACTCCAGCT p.VF*R203fs TCGA-W5-AA39-01A-11D-A417-09 GCDH 19 13007078 13007078 + Missense_Mutation SNP G T g.chr19:13007078G>T c.695G>T p.C232F TCGA-3X-AAVC-01A-21D-A417-09 GCM1 6 52993290 52993290 + Missense_Mutation SNP G T g.chr6:52993290G>T c.1025C>A p.P342Q TCGA-4G-AAZT-01A-11D-A417-09 GCN1L1 12 120622662 120622662 + Silent SNP G T g.chr12:120622662G>T c.150C>A p.L50L TCGA-W5-AA2W-01A-11D-A417-09 GCN1L1 12 120582444 120582444 + Splice_Site SNP T C g.chr12:120582444T>C c.5351A>G p.K1784R TCGA-WD-A7RX-01A-12D-A417-09 GCNT1 9 79117954 79117954 + Missense_Mutation SNP G T g.chr9:79117954G>T c.657G>T p.M219I TCGA-4G-AAZT-01A-11D-A417-09 GCNT2 6 10621588 10621588 + Silent SNP T C g.chr6:10621588T>C c.930T>C p.V310V TCGA-W5-AA39-01A-11D-A417-09 GCNT4 5 74325091 74325091 + Missense_Mutation SNP G T g.chr5:74325091G>T c.772C>A p.P258T TCGA-W5-AA2T-01A-12D-A417-09 GDI1 23 153667150 153667150 + Missense_Mutation SNP T C g.chrX:153667150T>C c.193T>C p.S65P TCGA-ZD-A8I3-01A-11D-A417-09 GDPD4 11 76954813 76954813 + Silent SNP G A g.chr11:76954813G>A c.1167C>T p.S389S TCGA-W5-AA39-01A-11D-A417-09 GEMIN5 5 154270801 154270801 + Splice_Site SNP C T g.chr5:154270801C>T c.4262G>A p.C1421Y TCGA-W5-AA2H-01A-31D-A417-09 GFM1 3 158362500 158362511 + Splice_Site DEL AGCAGGTACCGG - g.chr3:158362500_158362511delAGCAGGTACCGG c.77_81delAGCAGGTACCGG p.KQ26del TCGA-W5-AA2W-01A-11D-A417-09 GFM1 3 158364712 158364712 + Missense_Mutation SNP C T g.chr3:158364712C>T c.548C>T p.P183L TCGA-YR-A95A-01A-12D-A417-09 GHDC 17 40344493 40344493 + Nonsense_Mutation SNP C A g.chr17:40344493C>A c.655G>T p.E219* TCGA-W5-AA2G-01A-11D-A417-09 GIGYF1 7 100285182 100285182 + Missense_Mutation SNP C T g.chr7:100285182C>T c.319G>A p.A107T TCGA-ZH-A8Y8-01A-51D-A417-09 GIGYF2 2 233660789 233660809 + In_Frame_Del DEL GGCTTATCTCCAAGACAGTGC - g.chr2:233660789_233660809delGGCTTATCTCCAAGACAGTGC c.1497_1517delGGCTTATCTCCAAGACAGTGC p.AYLQDSA500del TCGA-W5-AA39-01A-11D-A417-09 GIGYF2 2 233708929 233708929 + Silent SNP G A g.chr2:233708929G>A c.3063G>A p.Q1021Q TCGA-ZH-A8Y5-01A-11D-A417-09 GIGYF2 2 233712228 233712230 + In_Frame_Del DEL CAG - g.chr2:233712228_233712230delCAG c.3631_3633delCAG p.Q1216del TCGA-ZH-A8Y6-01A-11D-A417-09 GIMAP2 7 150389906 150389906 + Nonsense_Mutation SNP C T g.chr7:150389906C>T c.532C>T p.R178* TCGA-ZH-A8Y4-01A-11D-A417-09 GIMAP6 7 150324841 150324841 + Missense_Mutation SNP G A g.chr7:150324841G>A c.845C>T p.A282V TCGA-3X-AAVC-01A-21D-A417-09 GIMAP8 7 150174405 150174406 + Frame_Shift_Ins INS - C g.chr7:150174405_150174406insC c.1535_1536insC p.EE512fs TCGA-W5-AA39-01A-11D-A417-09 GIMAP8 7 150174406 150174407 + Frame_Shift_Ins INS - A g.chr7:150174406_150174407insA c.1536_1537insA p.E513fs TCGA-W5-AA39-01A-11D-A417-09 GIN1 5 102440388 102440388 + Missense_Mutation SNP C A g.chr5:102440388C>A c.496G>T p.D166Y TCGA-W5-AA34-01A-11D-A417-09 GIPC3 19 3589910 3589910 + Splice_Site SNP G T g.chr19:3589910G>T c.787G>T p.A263S TCGA-W5-AA39-01A-11D-A417-09 GJA1 6 121768335 121768335 + Missense_Mutation SNP G T g.chr6:121768335G>T c.342G>T p.K114N TCGA-W5-AA2W-01A-11D-A417-09 GJA10 6 90604202 90604202 + Missense_Mutation SNP C G g.chr6:90604202C>G c.15C>G p.N5K TCGA-W5-AA39-01A-11D-A417-09 GJA5 1 147231066 147231066 + Missense_Mutation SNP C A g.chr1:147231066C>A c.281G>T p.G94V TCGA-ZH-A8Y8-01A-51D-A417-09 GJA9 1 39340249 39340249 + Silent SNP G T g.chr1:39340249G>T c.1522C>A p.R508R TCGA-3X-AAVE-01A-11D-A417-09 GJC1 17 42882468 42882468 + Missense_Mutation SNP C T g.chr17:42882468C>T c.718G>A p.G240S TCGA-W5-AA30-01A-31D-A417-09 GJD4 10 35897268 35897268 + Missense_Mutation SNP G A g.chr10:35897268G>A c.827G>A p.G276D TCGA-ZD-A8I3-01A-11D-A417-09 GK2 4 80329033 80329033 + Missense_Mutation SNP G T g.chr4:80329033G>T c.322C>A p.L108I TCGA-W5-AA2X-01A-11D-A417-09 GLB1 3 33110405 33110405 + Missense_Mutation SNP G T g.chr3:33110405G>T c.213C>A p.D71E TCGA-4G-AAZO-01A-12D-A417-09 GLB1L 2 220102658 220102658 + Silent SNP G T g.chr2:220102658G>T c.1363C>A p.R455R TCGA-YR-A95A-01A-12D-A417-09 GLB1L3 11 134188524 134188524 + Splice_Site SNP G T g.chr11:134188524G>T TCGA-W5-AA2Q-01A-11D-A417-09 GLG1 16 74502875 74502875 + Missense_Mutation SNP C T g.chr16:74502875C>T c.2405G>A p.R802H TCGA-3X-AAV9-01A-72D-A417-09 GLG1 16 74505136 74505136 + Missense_Mutation SNP T A g.chr16:74505136T>A c.2164A>T p.I722L TCGA-W5-AA2Q-01A-11D-A417-09 GLG1 16 74496020 74496020 + Missense_Mutation SNP G T g.chr16:74496020G>T c.3008C>A p.P1003H TCGA-W5-AA2U-01A-11D-A417-09 GLG1 16 74526937 74526937 + Silent SNP C T g.chr16:74526937C>T c.1152G>A p.R384R TCGA-W5-AA38-01A-11D-A417-09 GLG1 16 74525044 74525044 + Missense_Mutation SNP G T g.chr16:74525044G>T c.1304C>A p.S435Y TCGA-W5-AA39-01A-11D-A417-09 GLI2 2 121732608 121732608 + Nonsense_Mutation SNP G T g.chr2:121732608G>T c.1291G>T p.E431* TCGA-W5-AA2H-01A-31D-A417-09 GLIS3 9 4286060 4286060 + Silent SNP A G g.chr9:4286060A>G c.366T>C p.P122P TCGA-WD-A7RX-01A-12D-A417-09 GLIS3 9 4118102 4118102 + Frame_Shift_Del DEL G - g.chr9:4118102delG c.911delC p.P306fs TCGA-ZD-A8I3-01A-11D-A417-09 GLIS3 9 4286193 4286193 + Missense_Mutation SNP C T g.chr9:4286193C>T c.233G>A p.R78H TCGA-ZD-A8I3-01A-11D-A417-09 GLRA2 23 14748367 14748367 + Silent SNP C T g.chrX:14748367C>T c.1119C>T p.S373S TCGA-W5-AA2U-01A-11D-A417-09 GLRA2 23 14708892 14708892 + Missense_Mutation SNP G C g.chrX:14708892G>C c.991G>C p.A331P TCGA-WD-A7RX-01A-12D-A417-09 GLRA3 4 175580272 175580272 + Missense_Mutation SNP G A g.chr4:175580272G>A c.1004C>T p.A335V TCGA-W5-AA2U-01A-11D-A417-09 GLT25D2 1 183908097 183908097 + Missense_Mutation SNP G A g.chr1:183908097G>A c.1679C>T p.T560M TCGA-W5-AA38-01A-11D-A417-09 GLTP 12 110295408 110295408 + Silent SNP G T g.chr12:110295408G>T c.219C>A p.I73I TCGA-ZH-A8Y2-01A-11D-A417-09 GLTSCR1 19 48198732 48198732 + Splice_Site SNP G C g.chr19:48198732G>C TCGA-W5-AA33-01A-11D-A417-09 GLYATL1 11 58723373 58723373 + Missense_Mutation SNP C A g.chr11:58723373C>A c.782C>A p.P261Q TCGA-W5-AA2Z-01A-11D-A417-09 GMPR 6 16290801 16290801 + Missense_Mutation SNP T A g.chr6:16290801T>A c.806T>A p.M269K TCGA-W5-AA2U-01A-11D-A417-09 GNA12 7 2771312 2771312 + Missense_Mutation SNP C T g.chr7:2771312C>T c.649G>A p.V217I TCGA-3X-AAVC-01A-21D-A417-09 GNA15 19 3157762 3157762 + Missense_Mutation SNP A G g.chr19:3157762A>G c.781A>G p.I261V TCGA-4G-AAZT-01A-11D-A417-09 GNAO1 16 56377816 56377816 + Intron SNP C T g.chr16:56377816C>T TCGA-W5-AA2X-01A-11D-A417-09 GNAS 20 57415343 57415343 + Missense_Mutation SNP G A g.chr20:57415343G>A c.182G>A p.R61H TCGA-W5-AA2X-01A-11D-A417-09 GNB1L 22 19808754 19808754 + Nonsense_Mutation SNP G T g.chr22:19808754G>T c.125C>A p.S42* TCGA-3X-AAVC-01A-21D-A417-09 GNL3 3 52727227 52727227 + Missense_Mutation SNP G T g.chr3:52727227G>T c.1069G>T p.G357C TCGA-YR-A95A-01A-12D-A417-09 GNPDA1 5 141384672 141384672 + Missense_Mutation SNP G C g.chr5:141384672G>C c.419C>G p.P140R TCGA-ZH-A8Y5-01A-11D-A417-09 GNPTAB 12 102147186 102147186 + Missense_Mutation SNP C T g.chr12:102147186C>T c.3566G>A p.R1189Q TCGA-3X-AAVE-01A-11D-A417-09 GOLGA3 12 133351864 133351864 + Missense_Mutation SNP G T g.chr12:133351864G>T c.4006C>A p.Q1336K TCGA-W5-AA39-01A-11D-A417-09 GOLGA6B 15 72954652 72954652 + Missense_Mutation SNP G A g.chr15:72954652G>A c.907G>A p.E303K TCGA-W5-AA2Z-01A-11D-A417-09 GOLPH3L 1 150667291 150667291 + Silent SNP G T g.chr1:150667291G>T c.24C>A p.A8A TCGA-W5-AA2O-01A-11D-A417-09 GOLT1A 1 204170901 204170901 + Silent SNP C A g.chr1:204170901C>A c.156G>T p.L52L TCGA-4G-AAZO-01A-12D-A417-09 GON4L 1 155732107 155732107 + Silent SNP C A g.chr1:155732107C>A c.4785G>T p.R1595R TCGA-4G-AAZO-01A-12D-A417-09 GON4L 1 155792141 155792141 + Missense_Mutation SNP C T g.chr1:155792141C>T c.824G>A p.R275H TCGA-YR-A95A-01A-12D-A417-09 GOT1 10 101163490 101163490 + Missense_Mutation SNP C A g.chr10:101163490C>A c.784G>T p.G262W TCGA-4G-AAZO-01A-12D-A417-09 GPATCH1 19 33581730 33581730 + Missense_Mutation SNP G T g.chr19:33581730G>T c.253G>T p.D85Y TCGA-ZH-A8Y6-01A-11D-A417-09 GPATCH2 1 217604610 217604610 + Silent SNP T C g.chr1:217604610T>C c.1464A>G p.R488R TCGA-W5-AA2H-01A-31D-A417-09 GPATCH2 1 217783668 217783668 + Missense_Mutation SNP A C g.chr1:217783668A>C c.1093T>G p.S365A TCGA-W5-AA39-01A-11D-A417-09 GPBP1 5 56557038 56557038 + Missense_Mutation SNP A G g.chr5:56557038A>G c.1192A>G p.S398G TCGA-W5-AA2G-01A-11D-A417-09 GPC1 2 241401740 241401740 + Missense_Mutation SNP G A g.chr2:241401740G>A c.458G>A p.R153H TCGA-W5-AA2Z-01A-11D-A417-09 GPC3 23 133119350 133119350 + Missense_Mutation SNP G T g.chrX:133119350G>T c.127C>A p.Q43K TCGA-W5-AA31-01A-11D-A417-09 GPD2 2 157427724 157427724 + Missense_Mutation SNP G T g.chr2:157427724G>T c.1687G>T p.V563F TCGA-3X-AAVE-01A-11D-A417-09 GPHN 14 67635650 67635650 + Splice_Site SNP G T g.chr14:67635650G>T c.1877G>T p.G626V TCGA-W5-AA38-01A-11D-A417-09 GPLD1 6 24448239 24448239 + Missense_Mutation SNP C A g.chr6:24448239C>A c.1544G>T p.W515L TCGA-4G-AAZO-01A-12D-A417-09 GPLD1 6 24448365 24448365 + Silent SNP G A g.chr6:24448365G>A c.1518C>T p.C506C TCGA-W5-AA2R-01A-11D-A417-09 GPM6B 23 13801543 13801543 + Missense_Mutation SNP C A g.chrX:13801543C>A c.346G>T p.V116L TCGA-4G-AAZO-01A-12D-A417-09 GPN2 1 27210710 27210710 + Missense_Mutation SNP C A g.chr1:27210710C>A c.801G>T p.E267D TCGA-3X-AAVE-01A-11D-A417-09 GPNMB 7 23306191 23306191 + Missense_Mutation SNP G T g.chr7:23306191G>T c.1110G>T p.Q370H TCGA-YR-A95A-01A-12D-A417-09 GPR110 6 46977650 46977650 + Silent SNP G T g.chr6:46977650G>T c.1521C>A p.S507S TCGA-ZH-A8Y4-01A-11D-A417-09 GPR113 2 26536340 26536340 + Missense_Mutation SNP T C g.chr2:26536340T>C c.1378A>G p.I460V TCGA-4G-AAZO-01A-12D-A417-09 GPR123 10 134912152 134912152 + Missense_Mutation SNP G A g.chr10:134912152G>A c.140G>A p.R47H TCGA-3X-AAVA-01A-11D-A417-09 GPR123 10 134916323 134916323 + Silent SNP G A g.chr10:134916323G>A c.378G>A p.P126P TCGA-W5-AA2H-01A-31D-A417-09 GPR123 10 134940752 134940752 + Missense_Mutation SNP C A g.chr10:134940752C>A c.417C>A p.S139R TCGA-ZH-A8Y2-01A-11D-A417-09 GPR124 8 37692771 37692771 + Missense_Mutation SNP G T g.chr8:37692771G>T c.1688G>T p.R563M TCGA-YR-A95A-01A-12D-A417-09 GPR125 4 22390066 22390066 + Silent SNP G T g.chr4:22390066G>T c.3228C>A p.P1076P TCGA-W5-AA2H-01A-31D-A417-09 GPR133 12 131476787 131476787 + Silent SNP C A g.chr12:131476787C>A c.816C>A p.P272P TCGA-4G-AAZO-01A-12D-A417-09 GPR133 12 131456080 131456080 + Missense_Mutation SNP T G g.chr12:131456080T>G c.265T>G p.Y89D TCGA-ZH-A8Y2-01A-11D-A417-09 GPR149 3 154055683 154055683 + Silent SNP C T g.chr3:154055683C>T c.2001G>A p.G667G TCGA-W5-AA2X-01A-11D-A417-09 GPR155 2 175346540 175346540 + Missense_Mutation SNP A G g.chr2:175346540A>G c.145T>C p.C49R TCGA-W5-AA39-01A-11D-A417-09 GPR160 3 169802126 169802126 + Silent SNP G T g.chr3:169802126G>T c.366G>T p.L122L TCGA-3X-AAVA-01A-11D-A417-09 GPR160 3 169802265 169802265 + Missense_Mutation SNP G T g.chr3:169802265G>T c.505G>T p.A169S TCGA-W5-AA2I-01A-32D-A417-09 GPR161 1 168073858 168073858 + Silent SNP G T g.chr1:168073858G>T c.231C>A p.S77S TCGA-W5-AA2T-01A-12D-A417-09 GPR17 2 128407628 128407628 + Silent SNP A G g.chr2:128407628A>G c.42A>G p.P14P TCGA-3X-AAVE-01A-11D-A417-09 GPR179 17 36483728 36483728 + Silent SNP C T g.chr17:36483728C>T c.5724G>A p.L1908L TCGA-3X-AAVA-01A-11D-A417-09 GPR179 17 36489224 36489224 + Silent SNP G A g.chr17:36489224G>A c.1947C>T p.D649D TCGA-4G-AAZO-01A-12D-A417-09 GPR179 17 36491145 36491145 + Silent SNP C T g.chr17:36491145C>T c.1416G>A p.Q472Q TCGA-W5-AA38-01A-11D-A417-09 GPR179 17 36495366 36495366 + Silent SNP G T g.chr17:36495366G>T c.837C>A p.I279I TCGA-W6-AA0S-01A-11D-A417-09 GPR21 9 125797792 125797792 + Missense_Mutation SNP A G g.chr9:125797792A>G c.947A>G p.K316R TCGA-W5-AA39-01A-11D-A417-09 GPR31 6 167570387 167570387 + Missense_Mutation SNP A C g.chr6:167570387A>C c.933T>G p.D311E TCGA-W5-AA2T-01A-12D-A417-09 GPR37 7 124404434 124404434 + Silent SNP C T g.chr7:124404434C>T c.597G>A p.K199K TCGA-W5-AA31-01A-11D-A417-09 GPR64 23 19021009 19021009 + Missense_Mutation SNP T C g.chrX:19021009T>C c.2185A>G p.T729A TCGA-W5-AA34-01A-11D-A417-09 GPR85 7 112723989 112723989 + Missense_Mutation SNP G C g.chr7:112723989G>C c.788C>G p.A263G TCGA-ZU-A8S4-01A-11D-A417-09 GPR87 3 151012036 151012036 + Missense_Mutation SNP G T g.chr3:151012036G>T c.998C>A p.T333N TCGA-W5-AA2U-01A-11D-A417-09 GPR97 16 57719585 57719585 + Silent SNP C T g.chr16:57719585C>T c.1287C>T p.Y429Y TCGA-W5-AA39-01A-11D-A417-09 GPR98 5 89923034 89923034 + Missense_Mutation SNP G A g.chr5:89923034G>A c.679G>A p.E227K TCGA-3X-AAVA-01A-11D-A417-09 GPR98 5 89999578 89999578 + Missense_Mutation SNP T A g.chr5:89999578T>A c.8252T>A p.F2751Y TCGA-4G-AAZT-01A-11D-A417-09 GPR98 5 90052799 90052799 + Missense_Mutation SNP G A g.chr5:90052799G>A c.11761G>A p.A3921T TCGA-W5-AA2T-01A-12D-A417-09 GPR98 5 89948370 89948370 + Silent SNP A G g.chr5:89948370A>G c.3624A>G p.V1208V TCGA-W5-AA39-01A-11D-A417-09 GPR98 5 90079724 90079724 + Silent SNP A G g.chr5:90079724A>G c.13503A>G p.L4501L TCGA-W5-AA39-01A-11D-A417-09 GPR98 5 90079728 90079728 + Missense_Mutation SNP A G g.chr5:90079728A>G c.13507A>G p.S4503G TCGA-W5-AA39-01A-11D-A417-09 GPR98 5 90079731 90079731 + Missense_Mutation SNP A G g.chr5:90079731A>G c.13510A>G p.R4504G TCGA-W5-AA39-01A-11D-A417-09 GPR98 5 90079733 90079733 + Missense_Mutation SNP A C g.chr5:90079733A>C c.13512A>C p.R4504S TCGA-W5-AA39-01A-11D-A417-09 GPR98 5 89969943 89969943 + Missense_Mutation SNP G T g.chr5:89969943G>T c.5002G>T p.A1668S TCGA-ZH-A8Y2-01A-11D-A417-09 GPRASP1 23 101910213 101910213 + Missense_Mutation SNP A G g.chrX:101910213A>G c.1372A>G p.R458G TCGA-W5-AA2G-01A-11D-A417-09 GPRC5C 17 72436467 72436467 + Silent SNP C T g.chr17:72436467C>T c.687C>T p.G229G TCGA-ZH-A8Y4-01A-11D-A417-09 GPRIN3 4 90169820 90169820 + Missense_Mutation SNP G T g.chr4:90169820G>T c.1442C>A p.T481K TCGA-YR-A95A-01A-12D-A417-09 GPS1 17 80012466 80012466 + Missense_Mutation SNP C T g.chr17:80012466C>T c.401C>T p.T134M TCGA-3X-AAV9-01A-72D-A417-09 GPS1 17 80013654 80013654 + Missense_Mutation SNP G A g.chr17:80013654G>A c.799G>A p.A267T TCGA-W5-AA2W-01A-11D-A417-09 GPS2 17 7216378 7216378 + Missense_Mutation SNP C G g.chr17:7216378C>G c.870G>C p.Q290H TCGA-W5-AA31-01A-11D-A417-09 GPS2 17 7216573 7216573 + Missense_Mutation SNP C A g.chr17:7216573C>A c.762G>T p.K254N TCGA-W5-AA31-01A-11D-A417-09 GPS2 17 7216703 7216703 + Missense_Mutation SNP C G g.chr17:7216703C>G c.720G>C p.Q240H TCGA-W5-AA31-01A-11D-A417-09 GPX2 14 65406264 65406264 + Missense_Mutation SNP G C g.chr14:65406264G>C c.515C>G p.T172S TCGA-W5-AA39-01A-11D-A417-09 GRASP 12 52407671 52407671 + Missense_Mutation SNP C A g.chr12:52407671C>A c.559C>A p.L187I TCGA-W5-AA2H-01A-31D-A417-09 GRB14 2 165476280 165476280 + Missense_Mutation SNP G T g.chr2:165476280G>T c.241C>A p.P81T TCGA-ZU-A8S4-01A-11D-A417-09 GRB2 17 73317898 73317898 + Missense_Mutation SNP C T g.chr17:73317898C>T c.310G>A p.D104N TCGA-ZH-A8Y6-01A-11D-A417-09 GRB7 17 37899545 37899545 + Missense_Mutation SNP G T g.chr17:37899545G>T c.576G>T p.K192N TCGA-W5-AA2Z-01A-11D-A417-09 GREB1 2 11735403 11735403 + Nonsense_Mutation SNP G T g.chr2:11735403G>T c.1723G>T p.E575* TCGA-3X-AAV9-01A-72D-A417-09 GREB1 2 11720942 11720942 + Silent SNP G T g.chr2:11720942G>T c.885G>T p.P295P TCGA-W5-AA2G-01A-11D-A417-09 GREM1 15 33023106 33023106 + Missense_Mutation SNP A G g.chr15:33023106A>G c.215A>G p.E72G TCGA-4G-AAZO-01A-12D-A417-09 GRIA2 4 158257613 158257613 + Missense_Mutation SNP G T g.chr4:158257613G>T c.1558G>T p.G520W TCGA-W5-AA30-01A-31D-A417-09 GRID1 10 87407113 87407113 + Missense_Mutation SNP C T g.chr10:87407113C>T c.2039G>A p.G680D TCGA-ZU-A8S4-01A-11D-A417-09 GRIK2 6 102124680 102124680 + Splice_Site SNP G T g.chr6:102124680G>T TCGA-W5-AA31-01A-11D-A417-09 GRIK2 6 102074369 102074369 + Missense_Mutation SNP G A g.chr6:102074369G>A c.398G>A p.R133H TCGA-ZU-A8S4-01A-11D-A417-09 GRIK5 19 42525501 42525501 + Missense_Mutation SNP G A g.chr19:42525501G>A c.1823C>T p.S608L TCGA-W5-AA39-01A-11D-A417-09 GRIN1 9 140053112 140053112 + Nonsense_Mutation SNP G T g.chr9:140053112G>T c.1153G>T p.E385* TCGA-W5-AA31-01A-11D-A417-09 GRIN2A 16 9857878 9857878 + Nonsense_Mutation SNP C A g.chr16:9857878C>A c.3523G>T p.E1175* TCGA-W5-AA39-01A-11D-A417-09 GRIN2A 16 9943747 9943747 + Missense_Mutation SNP G T g.chr16:9943747G>T c.1194C>A p.D398E TCGA-ZH-A8Y8-01A-51D-A417-09 GRIN2D 19 48925062 48925062 + Missense_Mutation SNP G T g.chr19:48925062G>T c.2112G>T p.Q704H TCGA-3X-AAVE-01A-11D-A417-09 GRIN2D 19 48918188 48918188 + Missense_Mutation SNP C T g.chr19:48918188C>T c.1480C>T p.R494W TCGA-4G-AAZO-01A-12D-A417-09 GRIN2D 19 48925132 48925132 + Missense_Mutation SNP G A g.chr19:48925132G>A c.2182G>A p.D728N TCGA-W5-AA2Z-01A-11D-A417-09 GRINA 8 145065564 145065564 + Missense_Mutation SNP C A g.chr8:145065564C>A c.173C>A p.P58H TCGA-4G-AAZO-01A-12D-A417-09 GRK5 10 121184542 121184542 + Nonsense_Mutation SNP G T g.chr10:121184542G>T c.478G>T p.E160* TCGA-3X-AAVA-01A-11D-A417-09 ARHGAP35 19 47423517 47423517 + Silent SNP C A g.chr19:47423517C>A c.1585C>A p.R529R TCGA-4G-AAZO-01A-12D-A417-09 GRM1 6 146720582 146720582 + Missense_Mutation SNP C T g.chr6:146720582C>T c.2407C>T p.P803S TCGA-W5-AA31-01A-11D-A417-09 GRM3 7 86394780 86394780 + Nonsense_Mutation SNP G T g.chr7:86394780G>T c.319G>T p.E107* TCGA-W5-AA2U-01A-11D-A417-09 GRM3 7 86416121 86416121 + Missense_Mutation SNP A G g.chr7:86416121A>G c.1013A>G p.Q338R TCGA-ZH-A8Y4-01A-11D-A417-09 GRM5 11 88323785 88323785 + Silent SNP G T g.chr11:88323785G>T c.1674C>A p.P558P TCGA-W5-AA2U-01A-11D-A417-09 GRM5 11 88323786 88323786 + Missense_Mutation SNP G C g.chr11:88323786G>C c.1673C>G p.P558R TCGA-W5-AA34-01A-11D-A417-09 GRM6 5 178413508 178413508 + Missense_Mutation SNP A G g.chr5:178413508A>G c.1747T>C p.S583P TCGA-W5-AA2T-01A-12D-A417-09 GRM7 3 7494394 7494394 + Missense_Mutation SNP G T g.chr3:7494394G>T c.1275G>T p.M425I TCGA-ZD-A8I3-01A-11D-A417-09 GRM8 7 126086280 126086280 + Silent SNP C A g.chr7:126086280C>A c.2577G>T p.V859V TCGA-W5-AA34-01A-11D-A417-09 GRM8 7 126883170 126883170 + Missense_Mutation SNP C T g.chr7:126883170C>T c.89G>A p.R30K TCGA-W6-AA0S-01A-11D-A417-09 GSDMA 17 38128387 38128387 + Missense_Mutation SNP C A g.chr17:38128387C>A c.661C>A p.P221T TCGA-W5-AA2G-01A-11D-A417-09 GSDMA 17 38128427 38128427 + Missense_Mutation SNP G A g.chr17:38128427G>A c.701G>A p.G234E TCGA-W5-AA38-01A-11D-A417-09 GSDMC 8 130777904 130777904 + Silent SNP C T g.chr8:130777904C>T c.540G>A p.G180G TCGA-ZH-A8Y6-01A-11D-A417-09 GSK3A 19 42737289 42737289 + Silent SNP A G g.chr19:42737289A>G c.1071T>C p.P357P TCGA-ZH-A8Y2-01A-11D-A417-09 GSTK1 7 142960620 142960620 + Missense_Mutation SNP C T g.chr7:142960620C>T c.14C>T p.P5L TCGA-3X-AAV9-01A-72D-A417-09 GTDC1 2 144728223 144728223 + Missense_Mutation SNP G T g.chr2:144728223G>T c.982C>A p.P328T TCGA-ZH-A8Y2-01A-11D-A417-09 GTDC1 2 144709619 144709619 + Missense_Mutation SNP G T g.chr2:144709619G>T c.1223C>A p.P408H TCGA-ZH-A8Y4-01A-11D-A417-09 GTF2A1L 2 48896871 48896871 + Missense_Mutation SNP C T g.chr2:48896871C>T c.989C>T p.S330F TCGA-W5-AA2O-01A-11D-A417-09 GTF2I 7 74148279 74148279 + Missense_Mutation SNP A G g.chr7:74148279A>G c.1319A>G p.N440S TCGA-W5-AA30-01A-31D-A417-09 GTF2IRD1 7 73927158 73927158 + Splice_Site SNP A G g.chr7:73927158A>G TCGA-W5-AA2X-01A-11D-A417-09 GTF3C1 16 27549552 27549552 + Missense_Mutation SNP C T g.chr16:27549552C>T c.557G>A p.R186Q TCGA-W5-AA39-01A-11D-A417-09 GTF3C3 2 197657764 197657764 + Missense_Mutation SNP C A g.chr2:197657764C>A c.327G>T p.E109D TCGA-W5-AA2W-01A-11D-A417-09 GTF3C4 9 135564267 135564267 + Splice_Site SNP G T g.chr9:135564267G>T TCGA-W6-AA0S-01A-11D-A417-09 GTPBP4 10 1052974 1052974 + Missense_Mutation SNP T G g.chr10:1052974T>G c.1019T>G p.L340W TCGA-WD-A7RX-01A-12D-A417-09 GTPBP5 20 60768516 60768516 + Missense_Mutation SNP G A g.chr20:60768516G>A c.40G>A p.V14M TCGA-WD-A7RX-01A-12D-A417-09 GUCY1A3 4 156632290 156632290 + Nonsense_Mutation SNP G T g.chr4:156632290G>T c.973G>T p.E325* TCGA-W5-AA2U-01A-11D-A417-09 GUCY1A3 4 156638432 156638432 + Missense_Mutation SNP C A g.chr4:156638432C>A c.1694C>A p.S565Y TCGA-YR-A95A-01A-12D-A417-09 GUCY2C 12 14849213 14849213 + Missense_Mutation SNP G A g.chr12:14849213G>A c.170C>T p.A57V TCGA-ZH-A8Y6-01A-11D-A417-09 GUCY2D 17 7917239 7917239 + Missense_Mutation SNP C A g.chr17:7917239C>A c.2305C>A p.P769T TCGA-ZH-A8Y1-01A-11D-A417-09 GUCY2F 23 108641914 108641914 + Silent SNP C A g.chrX:108641914C>A c.2139G>T p.T713T TCGA-W5-AA2U-01A-11D-A417-09 GUSB 7 65425890 65425890 + Silent SNP A G g.chr7:65425890A>G c.1950T>C p.F650F TCGA-W5-AA39-01A-11D-A417-09 GUSB 7 65425957 65425973 + Frame_Shift_Del DEL TTCCAGTATCTCTCTCG - g.chr7:65425957_65425973delTTCCAGTATCTCTCTCG c.1867_1883delCGAGAGAGATACTGGAA p.RERYWK623fs TCGA-W5-AA39-01A-11D-A417-09 GXYLT1 12 42512938 42512938 + Missense_Mutation SNP T A g.chr12:42512938T>A c.350A>T p.H117L TCGA-3X-AAV9-01A-72D-A417-09 GXYLT1 12 42512815 42512815 + Missense_Mutation SNP C G g.chr12:42512815C>G c.473G>C p.S158T TCGA-W5-AA2U-01A-11D-A417-09 GXYLT1 12 42523639 42523639 + Missense_Mutation SNP G T g.chr12:42523639G>T c.236C>A p.S79Y TCGA-ZH-A8Y6-01A-11D-A417-09 GYG2 23 2799129 2799129 + Missense_Mutation SNP G A g.chrX:2799129G>A c.1381G>A p.E461K TCGA-W5-AA2U-01A-11D-A417-09 GYS1 19 49473939 49473939 + Missense_Mutation SNP C T g.chr19:49473939C>T c.1673G>A p.R558H TCGA-W5-AA31-01A-11D-A417-09 GYS2 12 21711151 21711151 + Missense_Mutation SNP G T g.chr12:21711151G>T c.1405C>A p.R469S TCGA-W5-AA2X-01A-11D-A417-09 GZF1 20 23345860 23345860 + Missense_Mutation SNP G T g.chr20:23345860G>T c.840G>T p.E280D TCGA-3X-AAVA-01A-11D-A417-09 GZF1 20 23349409 23349409 + Silent SNP T C g.chr20:23349409T>C c.1470T>C p.P490P TCGA-3X-AAVE-01A-11D-A417-09 GZF1 20 23345235 23345235 + Missense_Mutation SNP G T g.chr20:23345235G>T c.215G>T p.G72V TCGA-W5-AA39-01A-11D-A417-09 GZF1 20 23345474 23345474 + Missense_Mutation SNP A G g.chr20:23345474A>G c.454A>G p.S152G TCGA-W5-AA39-01A-11D-A417-09 H6PD 1 9305083 9305083 + Silent SNP G T g.chr1:9305083G>T c.90G>T p.L30L TCGA-ZH-A8Y6-01A-11D-A417-09 HAAO 2 43010487 43010487 + Missense_Mutation SNP C T g.chr2:43010487C>T c.317G>A p.R106Q TCGA-3X-AAVC-01A-21D-A417-09 HADHB 2 26512787 26512787 + Splice_Site SNP G A g.chr2:26512787G>A c.1391G>A p.G464D TCGA-ZH-A8Y4-01A-11D-A417-09 HAL 12 96379885 96379885 + Missense_Mutation SNP G A g.chr12:96379885G>A c.1105C>T p.R369W TCGA-4G-AAZT-01A-11D-A417-09 HAMP 19 35775743 35775743 + Missense_Mutation SNP A G g.chr19:35775743A>G c.142A>G p.S48G TCGA-W5-AA39-01A-11D-A417-09 HAO1 20 7886918 7886918 + Missense_Mutation SNP C A g.chr20:7886918C>A c.604G>T p.D202Y TCGA-4G-AAZO-01A-12D-A417-09 HAPLN3 15 89424838 89424838 + Silent SNP C T g.chr15:89424838C>T c.243G>A p.P81P TCGA-W5-AA2T-01A-12D-A417-09 HAS1 19 52222503 52222503 + Missense_Mutation SNP A G g.chr19:52222503A>G c.658T>C p.Y220H TCGA-W5-AA2T-01A-12D-A417-09 HAS2 8 122626911 122626911 + Missense_Mutation SNP G T g.chr8:122626911G>T c.1097C>A p.A366E TCGA-W5-AA31-01A-11D-A417-09 HAS3 16 69148716 69148716 + Silent SNP G T g.chr16:69148716G>T c.1209G>T p.R403R TCGA-W5-AA2Q-01A-11D-A417-09 HAUS4 14 23424312 23424312 + Missense_Mutation SNP G T g.chr14:23424312G>T c.52C>A p.Q18K TCGA-3X-AAVB-01A-31D-A417-09 HAUS4 14 23416891 23416891 + Missense_Mutation SNP C T g.chr14:23416891C>T c.758G>A p.R253Q TCGA-W5-AA39-01A-11D-A417-09 HAUS6 9 19063525 19063525 + Missense_Mutation SNP G T g.chr9:19063525G>T c.1430C>A p.T477K TCGA-W5-AA2X-01A-11D-A417-09 HBS1L 6 135358028 135358028 + Intron SNP T G g.chr6:135358028T>G TCGA-W5-AA39-01A-11D-A417-09 HCN1 5 45262723 45262723 + Missense_Mutation SNP G T g.chr5:45262723G>T c.1973C>A p.S658Y TCGA-3X-AAVA-01A-11D-A417-09 HCN1 5 45267285 45267286 + Frame_Shift_Ins INS - G g.chr5:45267285_45267286insG c.1688_1689insC p.S563fs TCGA-ZH-A8Y2-01A-11D-A417-09 HCN2 19 613928 613928 + Silent SNP C T g.chr19:613928C>T c.1902C>T p.S634S TCGA-W5-AA2T-01A-12D-A417-09 HDAC4 2 240048352 240048352 + Missense_Mutation SNP C T g.chr2:240048352C>T c.1318G>A p.A440T TCGA-W5-AA2U-01A-11D-A417-09 HDAC4 2 240016733 240016733 + Missense_Mutation SNP G T g.chr2:240016733G>T c.2238C>A p.F746L TCGA-YR-A95A-01A-12D-A417-09 HDAC5 17 42165022 42165022 + Missense_Mutation SNP G T g.chr17:42165022G>T c.1642C>A p.H548N TCGA-3X-AAVC-01A-21D-A417-09 HDAC6 23 48661354 48661354 + Missense_Mutation SNP A C g.chrX:48661354A>C c.170A>C p.K57T TCGA-W5-AA39-01A-11D-A417-09 HDAC9 7 18631142 18631142 + Missense_Mutation SNP C T g.chr7:18631142C>T c.410C>T p.A137V TCGA-W5-AA2X-01A-11D-A417-09 HDC 15 50550626 50550626 + Missense_Mutation SNP G A g.chr15:50550626G>A c.293C>T p.A98V TCGA-WD-A7RX-01A-12D-A417-09 HDGF 1 156713449 156713449 + Missense_Mutation SNP A T g.chr1:156713449A>T c.711T>A p.H237Q TCGA-ZH-A8Y2-01A-11D-A417-09 HDGF 1 156714048 156714048 + Silent SNP G A g.chr1:156714048G>A c.396C>T p.S132S TCGA-ZH-A8Y4-01A-11D-A417-09 HDGFRP2 19 4493798 4493798 + Silent SNP T C g.chr19:4493798T>C c.777T>C p.S259S TCGA-W5-AA2O-01A-11D-A417-09 HDLBP 2 242189360 242189360 + Missense_Mutation SNP G T g.chr2:242189360G>T c.1408C>A p.R470S TCGA-W5-AA31-01A-11D-A417-09 HDX 23 83581279 83581279 + Missense_Mutation SNP C A g.chrX:83581279C>A c.1854G>T p.E618D TCGA-W5-AA2I-01A-32D-A417-09 HDX 23 83723901 83723901 + Missense_Mutation SNP A C g.chrX:83723901A>C c.830T>G p.I277S TCGA-ZH-A8Y1-01A-11D-A417-09 HEATR2 7 814755 814755 + Nonsense_Mutation SNP C A g.chr7:814755C>A c.2195C>A p.S732* TCGA-W5-AA2U-01A-11D-A417-09 HEATR3 16 50118142 50118142 + Silent SNP T C g.chr16:50118142T>C c.1230T>C p.S410S TCGA-YR-A95A-01A-12D-A417-09 HEATR6 17 58156223 58156223 + Missense_Mutation SNP G A g.chr17:58156223G>A c.53C>T p.A18V TCGA-W5-AA2H-01A-31D-A417-09 HEATR6 17 58137371 58137371 + Missense_Mutation SNP G T g.chr17:58137371G>T c.1503C>A p.H501Q TCGA-W5-AA30-01A-31D-A417-09 HEATR6 17 58148096 58148096 + Missense_Mutation SNP C T g.chr17:58148096C>T c.772G>A p.E258K TCGA-ZH-A8Y6-01A-11D-A417-09 HECW2 2 197184391 197184391 + Missense_Mutation SNP G T g.chr2:197184391G>T c.1223C>A p.P408H TCGA-W5-AA2T-01A-12D-A417-09 HECW2 2 197138745 197138745 + Splice_Site SNP C T g.chr2:197138745C>T c.3238G>A p.A1080T TCGA-ZH-A8Y2-01A-11D-A417-09 HEG1 3 124732804 124732804 + Missense_Mutation SNP C T g.chr3:124732804C>T c.1619G>A p.G540D TCGA-3X-AAVB-01A-31D-A417-09 HEG1 3 124738300 124738300 + Missense_Mutation SNP G T g.chr3:124738300G>T c.1394C>A p.T465K TCGA-W5-AA2X-01A-11D-A417-09 HELQ 4 84337954 84337954 + Missense_Mutation SNP G A g.chr4:84337954G>A c.3128C>T p.P1043L TCGA-W5-AA2X-01A-11D-A417-09 HELQ 4 84374566 84374566 + Missense_Mutation SNP G A g.chr4:84374566G>A c.830C>T p.A277V TCGA-W5-AA30-01A-31D-A417-09 HEPH 23 65476101 65476101 + Missense_Mutation SNP C T g.chrX:65476101C>T c.2825C>T p.T942I TCGA-ZH-A8Y2-01A-11D-A417-09 HEPHL1 11 93806546 93806546 + Missense_Mutation SNP G T g.chr11:93806546G>T c.1445G>T p.S482I TCGA-W5-AA2Q-01A-11D-A417-09 HEPHL1 11 93834378 93834378 + Nonsense_Mutation SNP G T g.chr11:93834378G>T c.2452G>T p.E818* TCGA-ZH-A8Y1-01A-11D-A417-09 HERC1 15 63967058 63967058 + Silent SNP G T g.chr15:63967058G>T c.7329C>A p.G2443G TCGA-W5-AA2Z-01A-11D-A417-09 HERC2 15 28375649 28375649 + Splice_Site SNP C A g.chr15:28375649C>A c.12662G>T p.W4221L TCGA-4G-AAZO-01A-12D-A417-09 HERC2 15 28492030 28492030 + Missense_Mutation SNP C A g.chr15:28492030C>A c.3249G>T p.M1083I TCGA-4G-AAZO-01A-12D-A417-09 HERC3 4 89591061 89591061 + Missense_Mutation SNP C A g.chr4:89591061C>A c.1684C>A p.L562I TCGA-YR-A95A-01A-12D-A417-09 HERC4 10 69750950 69750950 + Missense_Mutation SNP T C g.chr10:69750950T>C c.1278A>G p.I426M TCGA-W5-AA34-01A-11D-A417-09 HERC4 10 69785435 69785435 + Splice_Site SNP T A g.chr10:69785435T>A TCGA-W6-AA0S-01A-11D-A417-09 HEXA 15 72648952 72648952 + Missense_Mutation SNP C A g.chr15:72648952C>A c.260G>T p.R87L TCGA-ZH-A8Y6-01A-11D-A417-09 HFM1 1 91784927 91784927 + Missense_Mutation SNP C A g.chr1:91784927C>A c.2603G>T p.G868V TCGA-3X-AAVB-01A-31D-A417-09 HFM1 1 91726906 91726906 + Missense_Mutation SNP G T g.chr1:91726906G>T c.4249C>A p.P1417T TCGA-W6-AA0S-01A-11D-A417-09 HHIPL2 1 222715437 222715437 + Silent SNP G T g.chr1:222715437G>T c.1035C>A p.G345G TCGA-ZH-A8Y4-01A-11D-A417-09 HHLA2 3 108072349 108072349 + Frame_Shift_Del DEL T - g.chr3:108072349delT c.140delT p.I48fs TCGA-W5-AA2I-01A-32D-A417-09 HIATL1 9 97177491 97177491 + Missense_Mutation SNP C A g.chr9:97177491C>A c.160C>A p.L54I TCGA-ZD-A8I3-01A-11D-A417-09 HIRA 22 19344493 19344493 + Silent SNP G A g.chr22:19344493G>A c.2316C>T p.L772L TCGA-W5-AA39-01A-11D-A417-09 HIRA 22 19373053 19373053 + Silent SNP A G g.chr22:19373053A>G c.1320T>C p.D440D TCGA-W5-AA39-01A-11D-A417-09 HIST1H2AI 6 27776314 27776314 + Silent SNP G A g.chr6:27776314G>A c.327G>A p.L109L TCGA-3X-AAVA-01A-11D-A417-09 HIST1H3G 6 26271507 26271507 + Missense_Mutation SNP C A g.chr6:26271507C>A c.106G>T p.V36L TCGA-YR-A95A-01A-12D-A417-09 HIST1H4I 6 27107240 27107240 + Silent SNP C A g.chr6:27107240C>A c.153C>A p.I51I TCGA-W5-AA2G-01A-11D-A417-09 HIST3H2A 1 228645259 228645259 + Missense_Mutation SNP G A g.chr1:228645259G>A c.260C>T p.A87V TCGA-3X-AAVE-01A-11D-A417-09 HIST3H2BB 1 228645919 228645919 + Missense_Mutation SNP G A g.chr1:228645919G>A c.89G>A p.R30H TCGA-3X-AAVA-01A-11D-A417-09 HIST3H2BB 1 228646009 228646009 + Missense_Mutation SNP T G g.chr1:228646009T>G c.179T>G p.M60R TCGA-W5-AA39-01A-11D-A417-09 HIVEP2 6 143091902 143091902 + Missense_Mutation SNP G T g.chr6:143091902G>T c.3974C>A p.S1325Y TCGA-W5-AA30-01A-31D-A417-09 HJURP 2 234762542 234762542 + Missense_Mutation SNP G T g.chr2:234762542G>T c.132C>A p.F44L TCGA-ZD-A8I3-01A-11D-A417-09 HK2 2 75100419 75100419 + Missense_Mutation SNP G T g.chr2:75100419G>T c.512G>T p.W171L TCGA-W5-AA39-01A-11D-A417-09 HKDC1 10 70992818 70992818 + Missense_Mutation SNP G T g.chr10:70992818G>T c.424G>T p.D142Y TCGA-4G-AAZO-01A-12D-A417-09 HLA-A 6 29910349 29910349 + Missense_Mutation SNP C G g.chr6:29910349C>G c.19C>G p.R7G TCGA-W5-AA2R-01A-11D-A417-09 HLA-B 6 31323974 31323974 + Missense_Mutation SNP C T g.chr6:31323974C>T c.589G>A p.E197K TCGA-W5-AA2G-01A-11D-A417-09 HLA-B 6 31322910 31322910 + Missense_Mutation SNP G A g.chr6:31322910G>A c.986C>T p.A329V TCGA-W5-AA2O-01A-11D-A417-09 HLA-B 6 31322910 31322910 + Missense_Mutation SNP G A g.chr6:31322910G>A c.986C>T p.A329V TCGA-W5-AA31-01A-11D-A417-09 HLA-B 6 31322910 31322910 + Missense_Mutation SNP G A g.chr6:31322910G>A c.986C>T p.A329V TCGA-YR-A95A-01A-12D-A417-09 HLA-B 6 31324018 31324018 + Missense_Mutation SNP G A g.chr6:31324018G>A c.545C>T p.A182V TCGA-ZH-A8Y2-01A-11D-A417-09 HLA-DMA 6 32918505 32918505 + Missense_Mutation SNP G T g.chr6:32918505G>T c.164C>A p.P55H TCGA-ZH-A8Y2-01A-11D-A417-09 HLA-DOA 6 32975954 32975954 + Missense_Mutation SNP T A g.chr6:32975954T>A c.167A>T p.Q56L TCGA-W5-AA34-01A-11D-A417-09 HLA-DQA1 6 32609758 32609758 + Missense_Mutation SNP A G g.chr6:32609758A>G c.341A>G p.E114G TCGA-YR-A95A-01A-12D-A417-09 HLA-DRA 6 32410347 32410347 + Missense_Mutation SNP C T g.chr6:32410347C>T c.205C>T p.R69W TCGA-W5-AA2Q-01A-11D-A417-09 HLA-F 6 29693309 29693309 + Silent SNP C T g.chr6:29693309C>T c.972C>T p.V324V TCGA-3X-AAV9-01A-72D-A417-09 HLF 17 53392723 53392723 + Missense_Mutation SNP G T g.chr17:53392723G>T c.587G>T p.R196L TCGA-W5-AA2X-01A-11D-A417-09 HMCN1 1 186064631 186064631 + Missense_Mutation SNP G T g.chr1:186064631G>T c.10551G>T p.K3517N TCGA-W5-AA2G-01A-11D-A417-09 HMCN1 1 185902703 185902703 + Silent SNP G T g.chr1:185902703G>T c.1575G>T p.V525V TCGA-W5-AA2Q-01A-11D-A417-09 HMCN1 1 186088384 186088384 + Missense_Mutation SNP G T g.chr1:186088384G>T c.11910G>T p.R3970S TCGA-W5-AA2X-01A-11D-A417-09 HMCN1 1 186158652 186158652 + Missense_Mutation SNP T C g.chr1:186158652T>C c.16550T>C p.L5517P TCGA-ZH-A8Y8-01A-51D-A417-09 HMGB3 23 150156360 150156360 + Silent SNP G A g.chrX:150156360G>A c.576G>A p.E192E TCGA-ZD-A8I3-01A-11D-A417-09 HMGB3 23 150156360 150156360 + Silent SNP G A g.chrX:150156360G>A c.576G>A p.E192E TCGA-ZH-A8Y6-01A-11D-A417-09 HMGCL 1 24140684 24140684 + Missense_Mutation SNP G A g.chr1:24140684G>A c.493C>T p.R165W TCGA-3X-AAVE-01A-11D-A417-09 HMGCL 1 24147070 24147070 + Missense_Mutation SNP G A g.chr1:24147070G>A c.74C>T p.S25F TCGA-W5-AA2Q-01A-11D-A417-09 HMGCS2 1 120302536 120302536 + Silent SNP T A g.chr1:120302536T>A c.636A>T p.G212G TCGA-W5-AA39-01A-11D-A417-09 HMGXB4 22 35683427 35683427 + Missense_Mutation SNP G T g.chr22:35683427G>T c.1450G>T p.G484C TCGA-W6-AA0S-01A-11D-A417-09 HMHA1 19 1068619 1068619 + Silent SNP C T g.chr19:1068619C>T c.297C>T p.S99S TCGA-W5-AA2W-01A-11D-A417-09 HNRNPA2B1 7 26237321 26237321 + Missense_Mutation SNP A G g.chr7:26237321A>G c.74T>C p.I25T TCGA-ZH-A8Y1-01A-11D-A417-09 HNRNPCL1 1 12907275 12907275 + Missense_Mutation SNP G C g.chr1:12907275G>C c.868C>G p.Q290E TCGA-W5-AA2O-01A-11D-A417-09 HNRNPCL1 1 12907358 12907358 + Missense_Mutation SNP T C g.chr1:12907358T>C c.785A>G p.Q262R TCGA-W5-AA2O-01A-11D-A417-09 HNRNPF 10 43882519 43882526 + Frame_Shift_Del DEL ACATTCCG - g.chr10:43882519_43882526delACATTCCG c.807_814delCGGAATGT p.GMY270fs TCGA-W5-AA39-01A-11D-A417-09 HNRNPK 9 86592623 86592623 + Missense_Mutation SNP C T g.chr9:86592623C>T c.137G>A p.R46H TCGA-ZH-A8Y8-01A-51D-A417-09 HNRNPM 19 8528546 8528546 + Silent SNP C T g.chr19:8528546C>T c.414C>T p.S138S TCGA-W5-AA2U-01A-11D-A417-09 HNRNPM 19 8527458 8527458 + Missense_Mutation SNP A C g.chr19:8527458A>C c.329A>C p.K110T TCGA-W5-AA39-01A-11D-A417-09 HNRNPU 1 245019773 245019773 + Missense_Mutation SNP A T g.chr1:245019773A>T c.1898T>A p.V633D TCGA-W5-AA39-01A-11D-A417-09 HNRNPUL1 19 41798301 41798301 + Missense_Mutation SNP G T g.chr19:41798301G>T c.1151G>T p.G384V TCGA-W5-AA2U-01A-11D-A417-09 HNRNPUL2 11 62490357 62490357 + Missense_Mutation SNP T C g.chr11:62490357T>C c.910A>G p.M304V TCGA-W5-AA2T-01A-12D-A417-09 HOOK1 1 60330334 60330334 + Missense_Mutation SNP C T g.chr1:60330334C>T c.1657C>T p.H553Y TCGA-W5-AA39-01A-11D-A417-09 HORMAD2 22 30518061 30518061 + Missense_Mutation SNP G T g.chr22:30518061G>T c.677G>T p.G226V TCGA-ZH-A8Y6-01A-11D-A417-09 HOXA6 7 27187127 27187127 + Missense_Mutation SNP G C g.chr7:27187127G>C c.242C>G p.S81C TCGA-W5-AA39-01A-11D-A417-09 HOXD4 2 177016418 177016418 + Silent SNP G T g.chr2:177016418G>T c.57G>T p.P19P TCGA-W5-AA2O-01A-11D-A417-09 HOXD9 2 176988290 176988290 + Missense_Mutation SNP C A g.chr2:176988290C>A c.794C>A p.P265Q TCGA-W5-AA34-01A-11D-A417-09 HOXD9 2 176988855 176988855 + Missense_Mutation SNP G T g.chr2:176988855G>T c.1011G>T p.R337S TCGA-ZD-A8I3-01A-11D-A417-09 HPS5 11 18313248 18313248 + Silent SNP G A g.chr11:18313248G>A c.2181C>T p.C727C TCGA-W5-AA2G-01A-11D-A417-09 HPS5 11 18339303 18339303 + Missense_Mutation SNP G T g.chr11:18339303G>T c.103C>A p.L35I TCGA-W5-AA2U-01A-11D-A417-09 HPSE 4 84222115 84222115 + Silent SNP G T g.chr4:84222115G>T c.1470C>A p.S490S TCGA-W5-AA39-01A-11D-A417-09 HPSE2 10 100481428 100481428 + Silent SNP G A g.chr10:100481428G>A c.942C>T p.I314I TCGA-W5-AA33-01A-11D-A417-09 HPSE2 10 100904026 100904026 + Missense_Mutation SNP G T g.chr10:100904026G>T c.579C>A p.F193L TCGA-W5-AA39-01A-11D-A417-09 HRH1 3 11301253 11301253 + Missense_Mutation SNP A G g.chr3:11301253A>G c.530A>G p.E177G TCGA-W5-AA39-01A-11D-A417-09 HRH2 5 175111128 175111128 + Missense_Mutation SNP G T g.chr5:175111128G>T c.892G>T p.G298W TCGA-W5-AA39-01A-11D-A417-09 HRH3 20 60791534 60791534 + Missense_Mutation SNP G A g.chr20:60791534G>A c.866C>T p.A289V TCGA-W5-AA2U-01A-11D-A417-09 HRNR 1 152191793 152191793 + Missense_Mutation SNP C G g.chr1:152191793C>G c.2312G>C p.G771A TCGA-3X-AAVC-01A-21D-A417-09 HS3ST1 4 11401504 11401504 + Silent SNP G A g.chr4:11401504G>A c.126C>T p.R42R TCGA-W5-AA2T-01A-12D-A417-09 HS3ST4 16 26147016 26147016 + Missense_Mutation SNP G A g.chr16:26147016G>A c.818G>A p.R273H TCGA-W5-AA2G-01A-11D-A417-09 HS3ST4 16 26147094 26147094 + Missense_Mutation SNP C T g.chr16:26147094C>T c.896C>T p.T299M TCGA-W5-AA38-01A-11D-A417-09 HS3ST5 6 114379057 114379057 + Silent SNP G T g.chr6:114379057G>T c.405C>A p.G135G TCGA-W5-AA2X-01A-11D-A417-09 HSCB 22 29138126 29138126 + Missense_Mutation SNP T G g.chr22:29138126T>G c.43T>G p.F15V TCGA-ZU-A8S4-01A-11D-A417-09 HSD17B14 19 49339067 49339067 + Missense_Mutation SNP T G g.chr19:49339067T>G c.122A>C p.K41T TCGA-W5-AA39-01A-11D-A417-09 HSD17B7 1 162769603 162769603 + Missense_Mutation SNP G A g.chr1:162769603G>A c.518G>A p.S173N TCGA-3X-AAVB-01A-31D-A417-09 HSF4 16 67200473 67200473 + Missense_Mutation SNP C A g.chr16:67200473C>A c.574C>A p.L192I TCGA-W5-AA2R-01A-11D-A417-09 HSF4 16 67203243 67203243 + Missense_Mutation SNP C A g.chr16:67203243C>A c.1316C>A p.P439Q TCGA-W6-AA0S-01A-11D-A417-09 HSF5 17 56540279 56540279 + Missense_Mutation SNP G A g.chr17:56540279G>A c.1406C>T p.P469L TCGA-W5-AA2I-01A-32D-A417-09 HSH2D 19 16268032 16268032 + Missense_Mutation SNP C T g.chr19:16268032C>T c.487C>T p.P163S TCGA-W5-AA2I-01A-32D-A417-09 HSH2D 19 16268483 16268483 + Missense_Mutation SNP G T g.chr19:16268483G>T c.937G>T p.V313L TCGA-W5-AA2W-01A-11D-A417-09 HSP90AA1 14 102548746 102548746 + Silent SNP G A g.chr14:102548746G>A c.1791C>T p.C597C TCGA-W5-AA2W-01A-11D-A417-09 HSP90AB1 6 44221231 44221231 + Missense_Mutation SNP G T g.chr6:44221231G>T c.2071G>T p.D691Y TCGA-3X-AAVB-01A-31D-A417-09 HSP90AB1 6 44221323 44221323 + Silent SNP A G g.chr6:44221323A>G c.2163A>G p.E721E TCGA-W5-AA2G-01A-11D-A417-09 HSPA12A 10 118460575 118460575 + Missense_Mutation SNP G T g.chr10:118460575G>T c.320C>A p.P107H TCGA-4G-AAZO-01A-12D-A417-09 HSPA12B 20 3730721 3730721 + Missense_Mutation SNP C A g.chr20:3730721C>A c.1148C>A p.A383D TCGA-W5-AA39-01A-11D-A417-09 HSPA2 14 65008064 65008064 + Missense_Mutation SNP C T g.chr14:65008064C>T c.497C>T p.T166M TCGA-W5-AA2G-01A-11D-A417-09 HSPA4L 4 128743939 128743939 + Nonsense_Mutation SNP C T g.chr4:128743939C>T c.1828C>T p.Q610* TCGA-ZH-A8Y2-01A-11D-A417-09 HSPA8 11 122931947 122931947 + Missense_Mutation SNP A C g.chr11:122931947A>C c.86T>G p.I29S TCGA-W5-AA39-01A-11D-A417-09 HSPA9 5 137894311 137894311 + Silent SNP C A g.chr5:137894311C>A c.1446G>T p.V482V TCGA-4G-AAZO-01A-12D-A417-09 HSPBAP1 3 122459462 122459462 + Silent SNP G A g.chr3:122459462G>A c.1197C>T p.S399S TCGA-3X-AAVC-01A-21D-A417-09 HSPG2 1 22214554 22214554 + Nonsense_Mutation SNP G A g.chr1:22214554G>A c.580C>T p.Q194* TCGA-W5-AA2U-01A-11D-A417-09 HTATIP2 11 20385802 20385802 + Missense_Mutation SNP C A g.chr11:20385802C>A c.19C>A p.L7M TCGA-4G-AAZO-01A-12D-A417-09 HTATSF1 23 135593803 135593803 + Frame_Shift_Del DEL A - g.chrX:135593803delA c.1899delA p.T633fs TCGA-3X-AAVB-01A-31D-A417-09 HTN1 4 70918808 70918808 + Silent SNP C T g.chr4:70918808C>T c.15C>T p.V5V TCGA-4G-AAZO-01A-12D-A417-09 HTR1F 3 88040342 88040342 + Missense_Mutation SNP G T g.chr3:88040342G>T c.443G>T p.W148L TCGA-W5-AA2X-01A-11D-A417-09 HTR2B 2 231973540 231973540 + Silent SNP G T g.chr2:231973540G>T c.1137C>A p.V379V TCGA-W5-AA2R-01A-11D-A417-09 HTR3B 11 113813745 113813745 + Silent SNP G A g.chr11:113813745G>A c.738G>A p.L246L TCGA-W5-AA2Q-01A-11D-A417-09 HTR5A 7 154863304 154863304 + Missense_Mutation SNP G T g.chr7:154863304G>T c.695G>T p.G232V TCGA-W5-AA2G-01A-11D-A417-09 HTRA4 8 38840515 38840515 + Missense_Mutation SNP G T g.chr8:38840515G>T c.1216G>T p.V406L TCGA-W5-AA2R-01A-11D-A417-09 HTT 4 3213728 3213728 + Missense_Mutation SNP G T g.chr4:3213728G>T c.6487G>T p.A2163S TCGA-3X-AAV9-01A-72D-A417-09 HTT 4 3076651 3076652 + Frame_Shift_Del DEL GC - g.chr4:3076651_3076652delGC c.99_100delGC p.QQ33fs TCGA-W5-AA2R-01A-11D-A417-09 HTT 4 3076654 3076657 + Frame_Shift_Del DEL GCAG - g.chr4:3076654_3076657delGCAG c.102_105delGCAG p.QQ36fs TCGA-W5-AA2R-01A-11D-A417-09 HTT 4 3076659 3076659 + Missense_Mutation SNP A C g.chr4:3076659A>C c.107A>C p.Q36P TCGA-W5-AA2X-01A-11D-A417-09 HTT 4 3076659 3076659 + Missense_Mutation SNP A C g.chr4:3076659A>C c.107A>C p.Q36P TCGA-W5-AA34-01A-11D-A417-09 HTT 4 3076696 3076696 + Silent SNP T G g.chr4:3076696T>G c.144T>G p.P48P TCGA-ZH-A8Y4-01A-11D-A417-09 HUNK 21 33362484 33362484 + Missense_Mutation SNP G T g.chr21:33362484G>T c.1300G>T p.V434L TCGA-W5-AA30-01A-31D-A417-09 HUWE1 23 53570921 53570921 + Missense_Mutation SNP C A g.chrX:53570921C>A c.11260G>T p.G3754C TCGA-W5-AA38-01A-11D-A417-09 HYAL3 3 50332983 50332983 + Silent SNP C T g.chr3:50332983C>T c.51G>A p.L17L TCGA-W5-AA34-01A-11D-A417-09 HYDIN 16 71015307 71015307 + Silent SNP G A g.chr16:71015307G>A c.4497C>T p.P1499P TCGA-3X-AAV9-01A-72D-A417-09 HYOU1 11 118926263 118926263 + Missense_Mutation SNP G C g.chr11:118926263G>C c.206C>G p.P69R TCGA-W5-AA2T-01A-12D-A417-09 IAPP 12 21526361 21526361 + Nonsense_Mutation SNP G T g.chr12:21526361G>T c.76G>T p.E26* TCGA-W5-AA2R-01A-11D-A417-09 IARS 9 95005505 95005505 + Missense_Mutation SNP C A g.chr9:95005505C>A c.2993G>T p.R998L TCGA-W5-AA39-01A-11D-A417-09 IARS 9 95003186 95003186 + Missense_Mutation SNP C T g.chr9:95003186C>T c.3235G>A p.A1079T TCGA-ZD-A8I3-01A-11D-A417-09 IBSP 4 88732730 88732732 + In_Frame_Del DEL GGA - g.chr4:88732730_88732732delGGA c.622_624delGGA p.G208del TCGA-W5-AA2U-01A-11D-A417-09 IBTK 6 82920614 82920614 + Missense_Mutation SNP G A g.chr6:82920614G>A c.2426C>T p.A809V TCGA-YR-A95A-01A-12D-A417-09 ICA1 7 8268281 8268281 + Missense_Mutation SNP G T g.chr7:8268281G>T c.206C>A p.T69N TCGA-W5-AA2H-01A-31D-A417-09 ICAM1 19 10385609 10385609 + Missense_Mutation SNP A G g.chr19:10385609A>G c.236A>G p.Y79C TCGA-3X-AAVC-01A-21D-A417-09 ICK 6 52880912 52880912 + Missense_Mutation SNP C A g.chr6:52880912C>A c.800G>T p.W267L TCGA-4G-AAZO-01A-12D-A417-09 ICOSLG 21 45656893 45656893 + Missense_Mutation SNP G T g.chr21:45656893G>T c.263C>A p.P88Q TCGA-ZH-A8Y2-01A-11D-A417-09 ID3 1 23885891 23885891 + Silent SNP G T g.chr1:23885891G>T c.27C>A p.G9G TCGA-W5-AA33-01A-11D-A417-09 IDE 10 94228698 94228698 + Missense_Mutation SNP G A g.chr10:94228698G>A c.2258C>T p.A753V TCGA-W5-AA2I-01A-32D-A417-09 IDE 10 94223499 94223499 + Missense_Mutation SNP T C g.chr10:94223499T>C c.2750A>G p.N917S TCGA-W5-AA39-01A-11D-A417-09 IDH1 2 209113113 209113113 + Missense_Mutation SNP G A g.chr2:209113113G>A c.394C>T p.R132C TCGA-W5-AA2G-01A-11D-A417-09 IDH1 2 209113113 209113113 + Missense_Mutation SNP G A g.chr2:209113113G>A c.394C>T p.R132C TCGA-W5-AA2O-01A-11D-A417-09 IDH1 2 209113113 209113113 + Missense_Mutation SNP G A g.chr2:209113113G>A c.394C>T p.R132C TCGA-W5-AA34-01A-11D-A417-09 IDH1 2 209113113 209113113 + Missense_Mutation SNP G A g.chr2:209113113G>A c.394C>T p.R132C TCGA-YR-A95A-01A-12D-A417-09 IDH2 15 90631837 90631837 + Missense_Mutation SNP C A g.chr15:90631837C>A c.516G>T p.R172S TCGA-3X-AAVA-01A-11D-A417-09 IDH2 15 90631838 90631838 + Missense_Mutation SNP C T g.chr15:90631838C>T c.515G>A p.R172K TCGA-W6-AA0S-01A-11D-A417-09 IFI16 1 158985757 158985757 + Nonsense_Mutation SNP G T g.chr1:158985757G>T c.361G>T p.E121* TCGA-ZH-A8Y8-01A-51D-A417-09 IFIT5 10 91177164 91177164 + Missense_Mutation SNP G A g.chr10:91177164G>A c.208G>A p.A70T TCGA-ZH-A8Y6-01A-11D-A417-09 IFITM3 11 320723 320723 + Missense_Mutation SNP C T g.chr11:320723C>T c.91G>A p.V31M TCGA-ZH-A8Y2-01A-11D-A417-09 IFNGR1 6 137525607 137525607 + Missense_Mutation SNP C A g.chr6:137525607C>A c.408G>T p.K136N TCGA-W5-AA33-01A-11D-A417-09 IFRD1 7 112102177 112102178 + Frame_Shift_Ins INS - A g.chr7:112102177_112102178insA c.740_741insA p.W248fs TCGA-3X-AAVE-01A-11D-A417-09 IFT122 3 129218838 129218838 + Missense_Mutation SNP G T g.chr3:129218838G>T c.2302G>T p.V768L TCGA-ZH-A8Y5-01A-11D-A417-09 IFT172 2 27670404 27670404 + Missense_Mutation SNP G A g.chr2:27670404G>A c.4637C>T p.A1546V TCGA-W5-AA2H-01A-31D-A417-09 IFT172 2 27702379 27702379 + Silent SNP G A g.chr2:27702379G>A c.1002C>T p.S334S TCGA-W5-AA2Z-01A-11D-A417-09 IFT52 20 42264632 42264632 + Silent SNP G A g.chr20:42264632G>A c.990G>A p.P330P TCGA-ZH-A8Y6-01A-11D-A417-09 IGF1R 15 99482568 99482568 + Missense_Mutation SNP G T g.chr15:99482568G>T c.3436G>T p.D1146Y TCGA-WD-A7RX-01A-12D-A417-09 IGF1R 15 99460004 99460004 + Silent SNP C T g.chr15:99460004C>T c.2100C>T p.C700C TCGA-ZH-A8Y6-01A-11D-A417-09 IGF2BP2 3 185542734 185542734 + Silent SNP A C g.chr3:185542734A>C c.15T>G p.L5L TCGA-W5-AA39-01A-11D-A417-09 IGF2R 6 160511104 160511104 + Silent SNP A C g.chr6:160511104A>C c.6624A>C p.G2208G TCGA-W5-AA39-01A-11D-A417-09 IGJ 4 71522073 71522073 + Missense_Mutation SNP T G g.chr4:71522073T>G c.453A>C p.L151F TCGA-W5-AA34-01A-11D-A417-09 IGSF10 3 151156014 151156014 + Missense_Mutation SNP G A g.chr3:151156014G>A c.6335C>T p.A2112V TCGA-4G-AAZO-01A-12D-A417-09 IGSF9B 11 133802005 133802005 + Silent SNP G A g.chr11:133802005G>A c.1071C>T p.V357V TCGA-W5-AA39-01A-11D-A417-09 IKBIP 12 99020313 99020313 + Intron SNP C T g.chr12:99020313C>T TCGA-ZH-A8Y6-01A-11D-A417-09 IKBKAP 9 111681574 111681574 + Missense_Mutation SNP T C g.chr9:111681574T>C c.608A>G p.D203G TCGA-W5-AA34-01A-11D-A417-09 IKZF5 10 124758099 124758099 + Missense_Mutation SNP A T g.chr10:124758099A>T c.43T>A p.F15I TCGA-W5-AA39-01A-11D-A417-09 IL10RA 11 117869604 117869604 + Missense_Mutation SNP C A g.chr11:117869604C>A c.985C>A p.Q329K TCGA-4G-AAZO-01A-12D-A417-09 IL12B 5 158749517 158749517 + Missense_Mutation SNP G C g.chr5:158749517G>C c.367C>G p.P123A TCGA-W5-AA39-01A-11D-A417-09 IL12RB2 1 67787288 67787288 + Missense_Mutation SNP C T g.chr1:67787288C>T c.80C>T p.A27V TCGA-3X-AAV9-01A-72D-A417-09 IL12RB2 1 67787288 67787288 + Missense_Mutation SNP C A g.chr1:67787288C>A c.80C>A p.A27E TCGA-ZH-A8Y2-01A-11D-A417-09 IL1F10 2 113831950 113831950 + Missense_Mutation SNP A G g.chr2:113831950A>G c.77A>G p.Q26R TCGA-ZH-A8Y1-01A-11D-A417-09 IL22RA1 1 24460734 24460734 + Missense_Mutation SNP G T g.chr1:24460734G>T c.498C>A p.H166Q TCGA-W5-AA2U-01A-11D-A417-09 IL24 1 207076334 207076334 + Missense_Mutation SNP C T g.chr1:207076334C>T c.551C>T p.A184V TCGA-W5-AA2R-01A-11D-A417-09 IL28B 19 39734285 39734285 + Missense_Mutation SNP T C g.chr19:39734285T>C c.578A>G p.D193G TCGA-3X-AAVC-01A-21D-A417-09 IL32 16 3119299 3119300 + Frame_Shift_Ins INS - C g.chr16:3119299_3119300insC c.648_649insC p.G217fs TCGA-W5-AA2I-01A-32D-A417-09 IL33 9 6254494 6254494 + Missense_Mutation SNP A C g.chr9:6254494A>C c.553A>C p.T185P TCGA-W5-AA39-01A-11D-A417-09 IL6ST 5 55243387 55243387 + Missense_Mutation SNP G T g.chr5:55243387G>T c.1871C>A p.P624H TCGA-3X-AAVC-01A-21D-A417-09 IL6ST 5 55250698 55250698 + Missense_Mutation SNP C T g.chr5:55250698C>T c.1390G>A p.A464T TCGA-W5-AA39-01A-11D-A417-09 IL9R 23 155232673 155232673 + Missense_Mutation SNP G T g.chrX:155232673G>T c.131G>T p.G44V TCGA-ZH-A8Y8-01A-51D-A417-09 IMP3 15 75932170 75932170 + Missense_Mutation SNP C T g.chr15:75932170C>T c.340G>A p.V114M TCGA-W5-AA39-01A-11D-A417-09 IMP4 2 131103674 131103674 + Nonsense_Mutation SNP C A g.chr2:131103674C>A c.678C>A p.Y226* TCGA-W5-AA34-01A-11D-A417-09 IMP5 17 43923030 43923030 + Missense_Mutation SNP C T g.chr17:43923030C>T c.758C>T p.P253L TCGA-ZU-A8S4-01A-11D-A417-09 IMPA1 8 82588479 82588479 + Missense_Mutation SNP A T g.chr8:82588479A>T c.338T>A p.V113E TCGA-W5-AA39-01A-11D-A417-09 IMPG2 3 100963395 100963395 + Missense_Mutation SNP C T g.chr3:100963395C>T c.1780G>A p.E594K TCGA-4G-AAZO-01A-12D-A417-09 IMPG2 3 100951689 100951689 + Missense_Mutation SNP G T g.chr3:100951689G>T c.3169C>A p.Q1057K TCGA-ZH-A8Y6-01A-11D-A417-09 INADL 1 62237282 62237282 + Missense_Mutation SNP C A g.chr1:62237282C>A c.704C>A p.T235K TCGA-ZH-A8Y4-01A-11D-A417-09 INF2 14 105180791 105180791 + Nonsense_Mutation SNP G T g.chr14:105180791G>T c.3292G>T p.E1098* TCGA-ZH-A8Y8-01A-51D-A417-09 INHBA 7 41729636 41729636 + Missense_Mutation SNP C T g.chr7:41729636C>T c.893G>A p.R298Q TCGA-W5-AA39-01A-11D-A417-09 INHBB 2 121107289 121107289 + Missense_Mutation SNP G T g.chr2:121107289G>T c.1063G>T p.V355L TCGA-ZH-A8Y4-01A-11D-A417-09 INMT 7 30793366 30793366 + Silent SNP G A g.chr7:30793366G>A c.174G>A p.T58T TCGA-WD-A7RX-01A-12D-A417-09 INO80 15 41297827 41297827 + Nonsense_Mutation SNP G T g.chr15:41297827G>T c.3461C>A p.S1154* TCGA-W6-AA0S-01A-11D-A417-09 INPP5F 10 121587136 121587136 + IGR SNP T A g.chr10:121587136T>A TCGA-W5-AA39-01A-11D-A417-09 INPPL1 11 71939417 71939417 + Missense_Mutation SNP G A g.chr11:71939417G>A c.272G>A p.R91H TCGA-W5-AA39-01A-11D-A417-09 INSM2 14 36004201 36004201 + Missense_Mutation SNP C T g.chr14:36004201C>T c.743C>T p.A248V TCGA-YR-A95A-01A-12D-A417-09 INTS10 8 19700398 19700398 + Missense_Mutation SNP T C g.chr8:19700398T>C c.1679T>C p.I560T TCGA-W5-AA39-01A-11D-A417-09 INTS12 4 106604263 106604263 + Nonsense_Mutation SNP G T g.chr4:106604263G>T c.1016C>A p.S339* TCGA-W5-AA2Q-01A-11D-A417-09 INTS12 4 106614585 106614585 + Missense_Mutation SNP G T g.chr4:106614585G>T c.368C>A p.P123Q TCGA-W5-AA34-01A-11D-A417-09 INTS2 17 59981823 59981823 + Silent SNP G T g.chr17:59981823G>T c.1329C>A p.V443V TCGA-W5-AA2Z-01A-11D-A417-09 INTS2 17 59952332 59952332 + Missense_Mutation SNP G T g.chr17:59952332G>T c.2548C>A p.Q850K TCGA-W5-AA39-01A-11D-A417-09 INTS7 1 212118230 212118230 + Missense_Mutation SNP C T g.chr1:212118230C>T c.2497G>A p.G833R TCGA-W5-AA39-01A-11D-A417-09 INTS8 8 95841228 95841228 + Nonsense_Mutation SNP G T g.chr8:95841228G>T c.544G>T p.E182* TCGA-ZD-A8I3-01A-11D-A417-09 IPO11 5 61747688 61747688 + Missense_Mutation SNP A C g.chr5:61747688A>C c.444A>C p.L148F TCGA-W5-AA39-01A-11D-A417-09 IPO13 1 44423802 44423803 + In_Frame_Ins INS - TGC g.chr1:44423802_44423803insTGC c.1694_1695insTGC p.567_568insA TCGA-W5-AA39-01A-11D-A417-09 IPO5 13 98671935 98671935 + Silent SNP C A g.chr13:98671935C>A c.2937C>A p.I979I TCGA-ZH-A8Y1-01A-11D-A417-09 IPO5 13 98652792 98652792 + Splice_Site SNP G A g.chr13:98652792G>A TCGA-ZH-A8Y2-01A-11D-A417-09 IPPK 9 95396672 95396672 + Missense_Mutation SNP G A g.chr9:95396672G>A c.1166C>T p.T389M TCGA-3X-AAVA-01A-11D-A417-09 IQCA1 2 237233410 237233410 + Missense_Mutation SNP G T g.chr2:237233410G>T c.2390C>A p.T797N TCGA-W5-AA2Z-01A-11D-A417-09 IQCB1 3 121508986 121508986 + Missense_Mutation SNP G T g.chr3:121508986G>T c.1063C>A p.Q355K TCGA-W5-AA2Q-01A-11D-A417-09 IQCK 16 19745076 19745076 + Silent SNP G T g.chr16:19745076G>T c.303G>T p.P101P TCGA-3X-AAVB-01A-31D-A417-09 IQGAP1 15 90972899 90972899 + Splice_Site SNP G T g.chr15:90972899G>T TCGA-W5-AA38-01A-11D-A417-09 IQGAP2 5 75969392 75969392 + Missense_Mutation SNP A T g.chr5:75969392A>T c.3187A>T p.I1063F TCGA-W5-AA2U-01A-11D-A417-09 IQSEC1 3 12942851 12942851 + Intron SNP C G g.chr3:12942851C>G TCGA-ZH-A8Y6-01A-11D-A417-09 IQSEC1 3 12942851 12942851 + Intron SNP C G g.chr3:12942851C>G TCGA-ZU-A8S4-01A-11D-A417-09 IRAK2 3 10268072 10268072 + Silent SNP C T g.chr3:10268072C>T c.1227C>T p.L409L TCGA-ZH-A8Y6-01A-11D-A417-09 IREB2 15 78765723 78765723 + Splice_Site SNP G T g.chr15:78765723G>T c.1023G>T p.K341N TCGA-4G-AAZT-01A-11D-A417-09 IREB2 15 78770699 78770699 + Missense_Mutation SNP G T g.chr15:78770699G>T c.1256G>T p.R419L TCGA-W5-AA39-01A-11D-A417-09 IREB2 15 78732192 78732192 + Missense_Mutation SNP C A g.chr15:78732192C>A c.75C>A p.F25L TCGA-WD-A7RX-01A-12D-A417-09 IRF6 1 209969704 209969704 + Missense_Mutation SNP A C g.chr1:209969704A>C c.368T>G p.I123S TCGA-W5-AA39-01A-11D-A417-09 IRF6 1 209974658 209974658 + Missense_Mutation SNP T G g.chr1:209974658T>G c.101A>C p.K34T TCGA-W5-AA39-01A-11D-A417-09 IRF9 14 24632181 24632181 + Missense_Mutation SNP G A g.chr14:24632181G>A c.187G>A p.A63T TCGA-ZH-A8Y2-01A-11D-A417-09 IRS1 2 227661428 227661428 + Missense_Mutation SNP C T g.chr2:227661428C>T c.2027G>A p.G676E TCGA-W5-AA39-01A-11D-A417-09 IRS1 2 227660543 227660543 + Missense_Mutation SNP C T g.chr2:227660543C>T c.2912G>A p.G971E TCGA-ZU-A8S4-01A-11D-A417-09 IRX1 5 3599509 3599509 + Silent SNP C T g.chr5:3599509C>T c.447C>T p.H149H TCGA-W5-AA2U-01A-11D-A417-09 ISL2 15 76632660 76632661 + Frame_Shift_Ins INS - A g.chr15:76632660_76632661insA c.555_556insA p.K186fs TCGA-W5-AA2T-01A-12D-A417-09 ISL2 15 76632810 76632810 + Silent SNP C A g.chr15:76632810C>A c.705C>A p.I235I TCGA-W5-AA39-01A-11D-A417-09 ISLR2 15 74427081 74427081 + Silent SNP C T g.chr15:74427081C>T c.1986C>T p.G662G TCGA-3X-AAVB-01A-31D-A417-09 ISLR2 15 74425467 74425467 + Silent SNP G A g.chr15:74425467G>A c.372G>A p.A124A TCGA-4G-AAZT-01A-11D-A417-09 ISX 22 35481519 35481519 + Nonsense_Mutation SNP C T g.chr22:35481519C>T c.571C>T p.Q191* TCGA-W5-AA39-01A-11D-A417-09 ISY1 3 128853021 128853021 + Missense_Mutation SNP C T g.chr3:128853021C>T c.559G>A p.E187K TCGA-W5-AA30-01A-31D-A417-09 ISYNA1 19 18548727 18548727 + Silent SNP G A g.chr19:18548727G>A c.63C>T p.I21I TCGA-4G-AAZT-01A-11D-A417-09 ITGA4 2 182359521 182359521 + Missense_Mutation SNP G T g.chr2:182359521G>T c.1321G>T p.D441Y TCGA-3X-AAVC-01A-21D-A417-09 ITGA4 2 182395369 182395369 + Missense_Mutation SNP G T g.chr2:182395369G>T c.2657G>T p.R886M TCGA-ZH-A8Y4-01A-11D-A417-09 ITGA6 2 173349546 173349546 + Missense_Mutation SNP G T g.chr2:173349546G>T c.1703G>T p.R568I TCGA-3X-AAVB-01A-31D-A417-09 ITGA7 12 56090083 56090083 + Missense_Mutation SNP C T g.chr12:56090083C>T c.2003G>A p.S668N TCGA-ZH-A8Y1-01A-11D-A417-09 ITGA8 10 15649688 15649688 + Silent SNP G A g.chr10:15649688G>A c.1752C>T p.I584I TCGA-4G-AAZT-01A-11D-A417-09 ITGA8 10 15649776 15649776 + Missense_Mutation SNP C T g.chr10:15649776C>T c.1664G>A p.R555Q TCGA-WD-A7RX-01A-12D-A417-09 ITGA9 3 37670693 37670693 + Missense_Mutation SNP G A g.chr3:37670693G>A c.1705G>A p.V569I TCGA-3X-AAVE-01A-11D-A417-09 ITGA9 3 37565093 37565093 + Missense_Mutation SNP G T g.chr3:37565093G>T c.1318G>T p.G440C TCGA-ZH-A8Y1-01A-11D-A417-09 ITGAL 16 30525161 30525161 + Missense_Mutation SNP G T g.chr16:30525161G>T c.2856G>T p.M952I TCGA-ZD-A8I3-01A-11D-A417-09 ITGAV 2 187511445 187511445 + Missense_Mutation SNP G T g.chr2:187511445G>T c.1192G>T p.D398Y TCGA-ZH-A8Y5-01A-11D-A417-09 ITGAX 16 31372509 31372509 + Silent SNP G T g.chr16:31372509G>T c.987G>T p.L329L TCGA-3X-AAVA-01A-11D-A417-09 ITGAX 16 31384573 31384573 + Missense_Mutation SNP G T g.chr16:31384573G>T c.2370G>T p.L790F TCGA-W5-AA2X-01A-11D-A417-09 ITGB1 10 33211229 33211229 + Missense_Mutation SNP C T g.chr10:33211229C>T c.1084G>A p.A362T TCGA-ZH-A8Y1-01A-11D-A417-09 ITGB4 17 73738739 73738739 + Missense_Mutation SNP G C g.chr17:73738739G>C c.2859G>C p.E953D TCGA-W5-AA39-01A-11D-A417-09 ITGB4 17 73751914 73751914 + Missense_Mutation SNP A G g.chr17:73751914A>G c.4691A>G p.Y1564C TCGA-W5-AA39-01A-11D-A417-09 ITGB6 2 160964274 160964274 + Silent SNP G A g.chr2:160964274G>A c.2184C>T p.C728C TCGA-W5-AA30-01A-31D-A417-09 ITGB6 2 161030579 161030579 + Missense_Mutation SNP C A g.chr2:161030579C>A c.665G>T p.R222I TCGA-YR-A95A-01A-12D-A417-09 ITGB7 12 53588035 53588035 + Nonsense_Mutation SNP C A g.chr12:53588035C>A c.1255G>T p.E419* TCGA-4G-AAZO-01A-12D-A417-09 ITGB8 7 20441344 20441344 + Splice_Site SNP G T g.chr7:20441344G>T c.1282G>T p.V428F TCGA-3X-AAVE-01A-11D-A417-09 ITIH1 3 52812387 52812387 + Missense_Mutation SNP A C g.chr3:52812387A>C c.170A>C p.K57T TCGA-W5-AA39-01A-11D-A417-09 ITIH5 10 7608296 7608296 + Missense_Mutation SNP G A g.chr10:7608296G>A c.2224C>T p.R742C TCGA-ZH-A8Y8-01A-51D-A417-09 ITK 5 156670696 156670696 + Missense_Mutation SNP G T g.chr5:156670696G>T c.1124G>T p.G375V TCGA-3X-AAVB-01A-31D-A417-09 ITPR1 3 4878503 4878503 + Missense_Mutation SNP G T g.chr3:4878503G>T c.8029G>T p.V2677F TCGA-W5-AA39-01A-11D-A417-09 ITPR2 12 26816634 26816634 + Missense_Mutation SNP T A g.chr12:26816634T>A c.1697A>T p.D566V TCGA-W5-AA39-01A-11D-A417-09 ITPR2 12 26755323 26755323 + Silent SNP G A g.chr12:26755323G>A c.3658C>T p.L1220L TCGA-W6-AA0S-01A-11D-A417-09 ITPR2 12 26755371 26755371 + Nonsense_Mutation SNP G A g.chr12:26755371G>A c.3610C>T p.Q1204* TCGA-W6-AA0S-01A-11D-A417-09 ITPR2 12 26755405 26755405 + Silent SNP G A g.chr12:26755405G>A c.3576C>T p.L1192L TCGA-W6-AA0S-01A-11D-A417-09 ITPR2 12 26755420 26755420 + Missense_Mutation SNP G C g.chr12:26755420G>C c.3561C>G p.I1187M TCGA-W6-AA0S-01A-11D-A417-09 ITPR2 12 26755574 26755574 + Missense_Mutation SNP G C g.chr12:26755574G>C c.3528C>G p.S1176R TCGA-W6-AA0S-01A-11D-A417-09 ITPR2 12 26755635 26755635 + Nonsense_Mutation SNP G C g.chr12:26755635G>C c.3467C>G p.S1156* TCGA-W6-AA0S-01A-11D-A417-09 ITPR2 12 26709212 26709212 + Missense_Mutation SNP G A g.chr12:26709212G>A c.4918C>T p.P1640S TCGA-ZH-A8Y6-01A-11D-A417-09 ITPR3 6 33631568 33631568 + Missense_Mutation SNP C G g.chr6:33631568C>G c.1059C>G p.C353W TCGA-W5-AA39-01A-11D-A417-09 ITPR3 6 33661448 33661448 + Missense_Mutation SNP C T g.chr6:33661448C>T c.7751C>T p.T2584M TCGA-W6-AA0S-01A-11D-A417-09 ITPRIP 10 106074385 106074385 + Silent SNP G A g.chr10:106074385G>A c.1425C>T p.H475H TCGA-W5-AA2T-01A-12D-A417-09 IVD 15 40702955 40702955 + Missense_Mutation SNP C T g.chr15:40702955C>T c.415C>T p.R139C TCGA-4G-AAZO-01A-12D-A417-09 IVL 1 152883128 152883128 + Nonsense_Mutation SNP C G g.chr1:152883128C>G c.855C>G p.Y285* TCGA-W5-AA2X-01A-11D-A417-09 IVL 1 152883026 152883026 + Silent SNP G A g.chr1:152883026G>A c.753G>A p.G251G TCGA-W5-AA2Z-01A-11D-A417-09 JAG2 14 105612177 105612177 + Missense_Mutation SNP T C g.chr14:105612177T>C c.2843A>G p.E948G TCGA-3X-AAV9-01A-72D-A417-09 JAG2 14 105609199 105609199 + Missense_Mutation SNP C T g.chr14:105609199C>T c.3550G>A p.G1184S TCGA-W5-AA2H-01A-31D-A417-09 JAK3 19 17951082 17951082 + Missense_Mutation SNP C T g.chr19:17951082C>T c.1211G>A p.S404N TCGA-3X-AAVB-01A-31D-A417-09 JAKMIP2 5 147029994 147029994 + Silent SNP G C g.chr5:147029994G>C c.744C>G p.L248L TCGA-W6-AA0S-01A-11D-A417-09 JAKMIP2 5 147040819 147040819 + Missense_Mutation SNP G A g.chr5:147040819G>A c.319C>T p.R107C TCGA-W6-AA0S-01A-11D-A417-09 JMJD1C 10 64966863 64966863 + Silent SNP T A g.chr10:64966863T>A c.4566A>T p.V1522V TCGA-W5-AA39-01A-11D-A417-09 JMJD1C 10 64966945 64966945 + Missense_Mutation SNP T G g.chr10:64966945T>G c.4484A>C p.K1495T TCGA-W5-AA39-01A-11D-A417-09 JMJD1C 10 64968449 64968449 + Silent SNP T G g.chr10:64968449T>G c.2980A>C p.R994R TCGA-W5-AA39-01A-11D-A417-09 JMJD4 1 227922428 227922428 + Missense_Mutation SNP A G g.chr1:227922428A>G c.490T>C p.Y164H TCGA-W5-AA30-01A-31D-A417-09 JMJD7 15 42129066 42129066 + Missense_Mutation SNP C T g.chr15:42129066C>T c.790C>T p.R264W TCGA-W5-AA33-01A-11D-A417-09 JOSD1 22 39085046 39085046 + Missense_Mutation SNP G T g.chr22:39085046G>T c.403C>A p.L135I TCGA-ZH-A8Y2-01A-11D-A417-09 JUP 17 39912069 39912069 + Missense_Mutation SNP C A g.chr17:39912069C>A c.2165G>T p.G722V TCGA-4G-AAZO-01A-12D-A417-09 KAT2A 17 40266620 40266620 + Silent SNP G T g.chr17:40266620G>T c.2022C>A p.I674I TCGA-ZH-A8Y6-01A-11D-A417-09 KATNAL2 18 44603829 44603829 + Missense_Mutation SNP C A g.chr18:44603829C>A c.251C>A p.P84Q TCGA-4G-AAZO-01A-12D-A417-09 KATNAL2 18 44579415 44579415 + Missense_Mutation SNP C T g.chr18:44579415C>T c.71C>T p.T24I TCGA-4G-AAZT-01A-11D-A417-09 KBTBD12 3 127703108 127703108 + Missense_Mutation SNP G T g.chr3:127703108G>T c.1859G>T p.G620V TCGA-ZH-A8Y5-01A-11D-A417-09 KBTBD4 11 47594521 47594521 + Missense_Mutation SNP A C g.chr11:47594521A>C c.1518T>G p.I506M TCGA-W5-AA39-01A-11D-A417-09 KBTBD8 3 67054577 67054577 + Missense_Mutation SNP G A g.chr3:67054577G>A c.1186G>A p.G396R TCGA-3X-AAVE-01A-11D-A417-09 KCMF1 2 85280314 85280314 + Nonsense_Mutation SNP G T g.chr2:85280314G>T c.928G>T p.E310* TCGA-W5-AA2G-01A-11D-A417-09 KCNAB1 3 156175301 156175301 + Silent SNP C A g.chr3:156175301C>A c.417C>A p.A139A TCGA-ZD-A8I3-01A-11D-A417-09 KCNAB2 1 6101927 6101927 + Missense_Mutation SNP T G g.chr1:6101927T>G c.114T>G p.F38L TCGA-W5-AA39-01A-11D-A417-09 KCNB1 20 47990628 47990628 + Missense_Mutation SNP C A g.chr20:47990628C>A c.1469G>T p.W490L TCGA-3X-AAVC-01A-21D-A417-09 KCNB2 8 73849914 73849914 + Missense_Mutation SNP C T g.chr8:73849914C>T c.2324C>T p.A775V TCGA-4G-AAZT-01A-11D-A417-09 KCNC2 12 75436135 75436135 + 3'UTR SNP G A g.chr12:75436135G>A TCGA-ZH-A8Y6-01A-11D-A417-09 KCNF1 2 11053983 11053983 + Frame_Shift_Del DEL C - g.chr2:11053983delC c.1431delC p.I477fs TCGA-W5-AA39-01A-11D-A417-09 KCNH2 7 150644044 150644044 + Missense_Mutation SNP G A g.chr7:150644044G>A c.3251C>T p.P1084L TCGA-W5-AA34-01A-11D-A417-09 KCNH3 12 49935525 49935525 + Silent SNP C T g.chr12:49935525C>T c.423C>T p.G141G TCGA-W5-AA2O-01A-11D-A417-09 KCNH3 12 49948260 49948260 + Nonsense_Mutation SNP G T g.chr12:49948260G>T c.2059G>T p.E687* TCGA-ZH-A8Y1-01A-11D-A417-09 KCNH7 2 163279884 163279884 + Missense_Mutation SNP G A g.chr2:163279884G>A c.2116C>T p.H706Y TCGA-3X-AAVC-01A-21D-A417-09 KCNH8 3 19436644 19436644 + Missense_Mutation SNP C T g.chr3:19436644C>T c.1018C>T p.R340C TCGA-W5-AA2H-01A-31D-A417-09 KCNH8 3 19432012 19432012 + Missense_Mutation SNP C A g.chr3:19432012C>A c.851C>A p.S284Y TCGA-W5-AA39-01A-11D-A417-09 KCNIP2 10 103587678 103587678 + Missense_Mutation SNP C T g.chr10:103587678C>T c.670G>A p.A224T TCGA-YR-A95A-01A-12D-A417-09 KCNIP4 4 20736336 20736336 + Missense_Mutation SNP A G g.chr4:20736336A>G c.452T>C p.I151T TCGA-3X-AAVE-01A-11D-A417-09 KCNJ14 19 48967866 48967866 + Silent SNP C T g.chr19:48967866C>T c.1143C>T p.F381F TCGA-3X-AAV9-01A-72D-A417-09 KCNJ14 19 48967988 48967988 + Missense_Mutation SNP G A g.chr19:48967988G>A c.1265G>A p.S422N TCGA-W5-AA2W-01A-11D-A417-09 KCNJ4 22 38824085 38824085 + Missense_Mutation SNP C T g.chr22:38824085C>T c.53G>A p.R18H TCGA-YR-A95A-01A-12D-A417-09 KCNJ5 11 128781861 128781861 + Missense_Mutation SNP G T g.chr11:128781861G>T c.693G>T p.E231D TCGA-ZH-A8Y1-01A-11D-A417-09 KCNJ9 1 160057420 160057420 + Missense_Mutation SNP C T g.chr1:160057420C>T c.995C>T p.S332L TCGA-W5-AA2R-01A-11D-A417-09 KCNK10 14 88693857 88693857 + Missense_Mutation SNP G T g.chr14:88693857G>T c.528C>A p.S176R TCGA-W5-AA2W-01A-11D-A417-09 KCNK13 14 90650699 90650699 + Silent SNP C T g.chr14:90650699C>T c.579C>T p.S193S TCGA-YR-A95A-01A-12D-A417-09 KCNK16 6 39285610 39285610 + Silent SNP G T g.chr6:39285610G>T c.447C>A p.A149A TCGA-ZH-A8Y4-01A-11D-A417-09 KCNK17 6 39278778 39278778 + Silent SNP G A g.chr6:39278778G>A c.243C>T p.V81V TCGA-ZH-A8Y2-01A-11D-A417-09 KCNK4 11 64064727 64064727 + Silent SNP C T g.chr11:64064727C>T c.450C>T p.I150I TCGA-3X-AAVE-01A-11D-A417-09 KCNK4 11 64060511 64060511 + Silent SNP G A g.chr11:64060511G>A c.21G>A p.L7L TCGA-W5-AA2G-01A-11D-A417-09 KCNMA1 10 79011006 79011006 + Missense_Mutation SNP T G g.chr10:79011006T>G c.549A>C p.L183F TCGA-W5-AA39-01A-11D-A417-09 KCNMA1 10 78704653 78704653 + Nonsense_Mutation SNP G T g.chr10:78704653G>T c.2780C>A p.S927* TCGA-YR-A95A-01A-12D-A417-09 KCNMB1 5 169805956 169805956 + Missense_Mutation SNP C T g.chr5:169805956C>T c.328G>A p.V110M TCGA-3X-AAVE-01A-11D-A417-09 KCNMB2 3 178560605 178560605 + Silent SNP G A g.chr3:178560605G>A c.588G>A p.L196L TCGA-W5-AA30-01A-31D-A417-09 KCNN1 19 18092607 18092607 + Silent SNP C T g.chr19:18092607C>T c.588C>T p.C196C TCGA-W5-AA2Z-01A-11D-A417-09 KCNN3 1 154842252 154842253 + Missense_Mutation DNP AG CT g.chr1:154842252_154842253AG>CT c.188_189CT>AG p.P63Q TCGA-W5-AA2U-01A-11D-A417-09 KCNN3 1 154842333 154842333 + Silent SNP C T g.chr1:154842333C>T c.108G>A p.Q36Q TCGA-ZH-A8Y5-01A-11D-A417-09 KCNN3 1 154842238 154842238 + Missense_Mutation SNP T A g.chr1:154842238T>A c.203A>T p.Q68L TCGA-ZH-A8Y6-01A-11D-A417-09 KCNQ2 20 62071037 62071037 + Missense_Mutation SNP C A g.chr20:62071037C>A c.841G>T p.G281W TCGA-4G-AAZO-01A-12D-A417-09 KCNQ3 8 133153423 133153423 + Missense_Mutation SNP C T g.chr8:133153423C>T c.1418G>A p.R473H TCGA-W5-AA2I-01A-32D-A417-09 KCNQ5 6 73834220 73834220 + Missense_Mutation SNP G T g.chr6:73834220G>T c.1232G>T p.G411V TCGA-W6-AA0S-01A-11D-A417-09 KCNT2 1 196295911 196295911 + Missense_Mutation SNP G A g.chr1:196295911G>A c.2212C>T p.P738S TCGA-W5-AA30-01A-31D-A417-09 KCNU1 8 36793039 36793039 + Silent SNP G T g.chr8:36793039G>T c.3051G>T p.V1017V TCGA-4G-AAZT-01A-11D-A417-09 KCNU1 8 36675277 36675277 + Splice_Site SNP G T g.chr8:36675277G>T c.1105G>T p.E369* TCGA-W5-AA39-01A-11D-A417-09 KCNV2 9 2718784 2718784 + Nonsense_Mutation SNP C T g.chr9:2718784C>T c.1045C>T p.Q349* TCGA-3X-AAV9-01A-72D-A417-09 KCTD3 1 215753330 215753330 + Missense_Mutation SNP C T g.chr1:215753330C>T c.614C>T p.A205V TCGA-W5-AA30-01A-31D-A417-09 KDELC2 11 108361840 108361840 + Missense_Mutation SNP C T g.chr11:108361840C>T c.257G>A p.R86Q TCGA-W5-AA2T-01A-12D-A417-09 KDELR2 7 6523689 6523691 + 5'UTR DEL GGC - g.chr7:6523689_6523691delGGC TCGA-W5-AA2R-01A-11D-A417-09 KDM2B 12 121881589 121881589 + Missense_Mutation SNP G A g.chr12:121881589G>A c.2459C>T p.S820L TCGA-3X-AAVB-01A-31D-A417-09 KDM3A 2 86697428 86697428 + Missense_Mutation SNP G A g.chr2:86697428G>A c.1621G>A p.A541T TCGA-W5-AA39-01A-11D-A417-09 KDM4A 1 44133482 44133482 + Missense_Mutation SNP G T g.chr1:44133482G>T c.955G>T p.V319L TCGA-3X-AAVA-01A-11D-A417-09 KDM4B 19 5041222 5041222 + Missense_Mutation SNP C A g.chr19:5041222C>A c.392C>A p.P131Q TCGA-3X-AAVB-01A-31D-A417-09 KDM4B 19 5071058 5071058 + Missense_Mutation SNP C T g.chr19:5071058C>T c.664C>T p.R222W TCGA-4G-AAZO-01A-12D-A417-09 KDM4C 9 7170012 7170012 + Intron SNP G T g.chr9:7170012G>T TCGA-W5-AA2O-01A-11D-A417-09 KDM5A 12 498247 498247 + Missense_Mutation SNP A C g.chr12:498247A>C c.11T>G p.V4G TCGA-WD-A7RX-01A-12D-A417-09 KDM5A 12 498253 498253 + Missense_Mutation SNP G C g.chr12:498253G>C c.5C>G p.A2G TCGA-WD-A7RX-01A-12D-A417-09 KDM6B 17 7750177 7750177 + Missense_Mutation SNP T C g.chr17:7750177T>C c.752T>C p.L251S TCGA-3X-AAVA-01A-11D-A417-09 KDM6B 17 7750177 7750177 + Missense_Mutation SNP T C g.chr17:7750177T>C c.752T>C p.L251S TCGA-W6-AA0S-01A-11D-A417-09 KDR 4 55956163 55956163 + Missense_Mutation SNP C T g.chr4:55956163C>T c.3152G>A p.R1051Q TCGA-W5-AA2Q-01A-11D-A417-09 KDR 4 55953862 55953862 + Missense_Mutation SNP G T g.chr4:55953862G>T c.3574C>A p.L1192I TCGA-ZD-A8I3-01A-11D-A417-09 KEAP1 19 10602675 10602680 + In_Frame_Del DEL CAGGTA - g.chr19:10602675_10602680delCAGGTA c.898_903delTACCTG p.YL300del TCGA-W5-AA2X-01A-11D-A417-09 KEAP1 19 10610426 10610426 + Missense_Mutation SNP G A g.chr19:10610426G>A c.284C>T p.A95V TCGA-ZH-A8Y8-01A-51D-A417-09 KHK 2 27310211 27310211 + Silent SNP G A g.chr2:27310211G>A c.84G>A p.S28S TCGA-3X-AAV9-01A-72D-A417-09 KHNYN 14 24900976 24900976 + Frame_Shift_Del DEL C - g.chr14:24900976delC c.509delC p.S170fs TCGA-4G-AAZT-01A-11D-A417-09 KIAA0100 17 26948452 26948452 + Missense_Mutation SNP C A g.chr17:26948452C>A c.5024G>T p.G1675V TCGA-W5-AA2X-01A-11D-A417-09 KIAA0195 17 73482012 73482012 + Missense_Mutation SNP G T g.chr17:73482012G>T c.205G>T p.G69W TCGA-3X-AAV9-01A-72D-A417-09 KIAA0226 3 197403835 197403835 + Missense_Mutation SNP G T g.chr3:197403835G>T c.2567C>A p.T856N TCGA-ZH-A8Y8-01A-51D-A417-09 KIAA0232 4 6863223 6863223 + Nonsense_Mutation SNP G T g.chr4:6863223G>T c.1114G>T p.E372* TCGA-WD-A7RX-01A-12D-A417-09 KIAA0247 14 70175521 70175521 + Missense_Mutation SNP G A g.chr14:70175521G>A c.586G>A p.V196I TCGA-W5-AA39-01A-11D-A417-09 KIAA0317 14 75137486 75137486 + Missense_Mutation SNP G T g.chr14:75137486G>T c.1587C>A p.F529L TCGA-YR-A95A-01A-12D-A417-09 KIAA0319L 1 36020083 36020083 + Missense_Mutation SNP T C g.chr1:36020083T>C c.10A>G p.R4G TCGA-W5-AA39-01A-11D-A417-09 KIAA0355 19 34832636 34832636 + Missense_Mutation SNP G T g.chr19:34832636G>T c.1797G>T p.R599S TCGA-ZH-A8Y4-01A-11D-A417-09 KIAA0368 9 114133913 114133913 + Silent SNP C T g.chr9:114133913C>T c.4725G>A p.T1575T TCGA-3X-AAVB-01A-31D-A417-09 KIAA0368 9 114192870 114192870 + Missense_Mutation SNP A G g.chr9:114192870A>G c.887T>C p.M296T TCGA-ZH-A8Y2-01A-11D-A417-09 KIAA0391 14 35593125 35593125 + Missense_Mutation SNP G T g.chr14:35593125G>T c.674G>T p.R225I TCGA-YR-A95A-01A-12D-A417-09 KIAA0406 20 36612006 36612006 + Missense_Mutation SNP G T g.chr20:36612006G>T c.3122C>A p.S1041Y TCGA-WD-A7RX-01A-12D-A417-09 KIAA0427 18 46385774 46385774 + Silent SNP G C g.chr18:46385774G>C c.1641G>C p.L547L TCGA-W5-AA39-01A-11D-A417-09 KIAA0430 16 15706433 15706433 + Missense_Mutation SNP G A g.chr16:15706433G>A c.3455C>T p.A1152V TCGA-W5-AA2G-01A-11D-A417-09 KIAA0562 1 3750520 3750520 + Missense_Mutation SNP G A g.chr1:3750520G>A c.1565C>T p.T522I TCGA-3X-AAVE-01A-11D-A417-09 KIAA0564 13 42357983 42357983 + Missense_Mutation SNP T G g.chr13:42357983T>G c.2225A>C p.N742T TCGA-W5-AA39-01A-11D-A417-09 KIAA0586 14 58955379 58955379 + Missense_Mutation SNP G T g.chr14:58955379G>T c.3523G>T p.D1175Y TCGA-3X-AAVA-01A-11D-A417-09 KIAA0664 17 2598253 2598253 + Missense_Mutation SNP G C g.chr17:2598253G>C c.2633C>G p.P878R TCGA-W5-AA2Z-01A-11D-A417-09 KIAA0754 1 39879568 39879568 + Missense_Mutation SNP A T g.chr1:39879568A>T c.3223A>T p.T1075S TCGA-W5-AA39-01A-11D-A417-09 KIAA0754 1 39879575 39879575 + Missense_Mutation SNP A T g.chr1:39879575A>T c.3230A>T p.E1077V TCGA-W5-AA39-01A-11D-A417-09 KIAA0802 18 8718506 8718506 + Silent SNP C A g.chr18:8718506C>A c.1138C>A p.R380R TCGA-W5-AA2G-01A-11D-A417-09 KIAA0907 1 155896523 155896523 + Missense_Mutation SNP C T g.chr1:155896523C>T c.625G>A p.A209T TCGA-ZH-A8Y6-01A-11D-A417-09 KIAA0922 4 154525556 154525556 + Missense_Mutation SNP T G g.chr4:154525556T>G c.3389T>G p.L1130W TCGA-4G-AAZT-01A-11D-A417-09 KIAA0922 4 154525558 154525559 + Missense_Mutation DNP CC AA g.chr4:154525558_154525559CC>AA c.3391_3392CC>AA p.P1131K TCGA-4G-AAZT-01A-11D-A417-09 KIAA0922 4 154525248 154525248 + Missense_Mutation SNP G T g.chr4:154525248G>T c.3081G>T p.E1027D TCGA-W5-AA2U-01A-11D-A417-09 KIAA0947 5 5463258 5463258 + Nonsense_Mutation SNP C T g.chr5:5463258C>T c.3811C>T p.Q1271* TCGA-W5-AA2T-01A-12D-A417-09 KIAA1009 6 84894963 84894963 + Missense_Mutation SNP G T g.chr6:84894963G>T c.1605C>A p.D535E TCGA-W5-AA2U-01A-11D-A417-09 KIAA1024 15 79750676 79750676 + Silent SNP G A g.chr15:79750676G>A c.2187G>A p.S729S TCGA-YR-A95A-01A-12D-A417-09 KIAA1024 15 79749365 79749365 + Missense_Mutation SNP G T g.chr15:79749365G>T c.876G>T p.K292N TCGA-ZH-A8Y5-01A-11D-A417-09 KIAA1033 12 105558483 105558483 + Missense_Mutation SNP C T g.chr12:105558483C>T c.3419C>T p.A1140V TCGA-W5-AA2X-01A-11D-A417-09 KIAA1109 4 123210346 123210346 + Splice_Site SNP T C g.chr4:123210346T>C c.9387T>C p.S3129S TCGA-W5-AA30-01A-31D-A417-09 KIAA1109 4 123274248 123274248 + Missense_Mutation SNP T C g.chr4:123274248T>C c.14039T>C p.L4680P TCGA-W5-AA34-01A-11D-A417-09 KIAA1109 4 123168345 123168360 + Frame_Shift_Del DEL AACCTGGTAGAACATC - g.chr4:123168345_123168360delAACCTGGTAGAACATC c.5345_5360delAACCTGGTAGAACATC p.EPGRTS1782fs TCGA-W5-AA39-01A-11D-A417-09 KIAA1109 4 123107280 123107280 + Nonsense_Mutation SNP G T g.chr4:123107280G>T c.448G>T p.E150* TCGA-ZH-A8Y4-01A-11D-A417-09 KIAA1109 4 123245634 123245634 + Missense_Mutation SNP G T g.chr4:123245634G>T c.10847G>T p.R3616L TCGA-ZU-A8S4-01A-11D-A417-09 KIAA1199 15 81212524 81212524 + Silent SNP T A g.chr15:81212524T>A c.1887T>A p.L629L TCGA-W5-AA2I-01A-32D-A417-09 KIAA1324 1 109714602 109714602 + Silent SNP C T g.chr1:109714602C>T c.582C>T p.Y194Y TCGA-WD-A7RX-01A-12D-A417-09 KIAA1324L 7 86521048 86521048 + Missense_Mutation SNP C G g.chr7:86521048C>G c.3022G>C p.A1008P TCGA-W5-AA2R-01A-11D-A417-09 KIAA1370 15 52874470 52874470 + Missense_Mutation SNP G T g.chr15:52874470G>T c.3112C>A p.H1038N TCGA-YR-A95A-01A-12D-A417-09 KIAA1377 11 101857706 101857706 + Missense_Mutation SNP T C g.chr11:101857706T>C c.3178T>C p.C1060R TCGA-W5-AA2Q-01A-11D-A417-09 KIAA1383 1 232941560 232941560 + Missense_Mutation SNP C A g.chr1:232941560C>A c.791C>A p.P264H TCGA-ZH-A8Y1-01A-11D-A417-09 KIAA1407 3 113724730 113724730 + Missense_Mutation SNP G T g.chr3:113724730G>T c.1493C>A p.T498K TCGA-W5-AA33-01A-11D-A417-09 KIAA1409 14 93994975 93994975 + Silent SNP C T g.chr14:93994975C>T c.1035C>T p.C345C TCGA-3X-AAVC-01A-21D-A417-09 KIAA1409 14 94084687 94084687 + Silent SNP C T g.chr14:94084687C>T c.4374C>T p.S1458S TCGA-W5-AA2U-01A-11D-A417-09 KIAA1409 14 94088062 94088062 + Missense_Mutation SNP C T g.chr14:94088062C>T c.4483C>T p.R1495C TCGA-WD-A7RX-01A-12D-A417-09 KIAA1409 14 94088818 94088818 + Nonsense_Mutation SNP C T g.chr14:94088818C>T c.5239C>T p.R1747* TCGA-ZH-A8Y2-01A-11D-A417-09 KIAA1429 8 95539408 95539408 + Missense_Mutation SNP T C g.chr8:95539408T>C c.1064A>G p.Y355C TCGA-3X-AAVC-01A-21D-A417-09 KIAA1432 9 5745941 5745941 + Missense_Mutation SNP C A g.chr9:5745941C>A c.1106C>A p.A369E TCGA-W5-AA2I-01A-32D-A417-09 KIAA1462 10 30315724 30315724 + Missense_Mutation SNP G C g.chr10:30315724G>C c.3353C>G p.A1118G TCGA-W5-AA39-01A-11D-A417-09 KIAA1468 18 59919949 59919949 + Missense_Mutation SNP C T g.chr18:59919949C>T c.1786C>T p.R596C TCGA-ZD-A8I3-01A-11D-A417-09 KIAA1486 2 226447614 226447614 + Missense_Mutation SNP C T g.chr2:226447614C>T c.1481C>T p.T494I TCGA-4G-AAZT-01A-11D-A417-09 KIAA1486 2 226447575 226447575 + Nonsense_Mutation SNP C A g.chr2:226447575C>A c.1442C>A p.S481* TCGA-W5-AA2O-01A-11D-A417-09 KIAA1486 2 226378131 226378131 + Missense_Mutation SNP G A g.chr2:226378131G>A c.266G>A p.G89D TCGA-ZH-A8Y1-01A-11D-A417-09 KIAA1586 6 56918360 56918360 + Missense_Mutation SNP G C g.chr6:56918360G>C c.1063G>C p.V355L TCGA-ZH-A8Y2-01A-11D-A417-09 KIAA1614 1 180886014 180886014 + Missense_Mutation SNP C A g.chr1:180886014C>A c.775C>A p.L259M TCGA-W5-AA2I-01A-32D-A417-09 KIAA1683 19 18377943 18377943 + Missense_Mutation SNP G T g.chr19:18377943G>T c.407C>A p.A136D TCGA-W6-AA0S-01A-11D-A417-09 KIAA1715 2 176794915 176794915 + Missense_Mutation SNP T C g.chr2:176794915T>C c.1067A>G p.H356R TCGA-ZH-A8Y2-01A-11D-A417-09 KIAA1715 2 176794918 176794918 + Missense_Mutation SNP T C g.chr2:176794918T>C c.1064A>G p.E355G TCGA-ZH-A8Y2-01A-11D-A417-09 KIAA1751 1 1887065 1887065 + IGR SNP C A g.chr1:1887065C>A TCGA-4G-AAZO-01A-12D-A417-09 KIAA1751 1 1887067 1887067 + IGR SNP G T g.chr1:1887067G>T TCGA-4G-AAZO-01A-12D-A417-09 KIAA1751 1 1920371 1920371 + Missense_Mutation SNP G T g.chr1:1920371G>T c.109C>A p.L37I TCGA-4G-AAZT-01A-11D-A417-09 KIAA1804 1 233490614 233490614 + Missense_Mutation SNP T A g.chr1:233490614T>A c.1168T>A p.S390T TCGA-W5-AA2X-01A-11D-A417-09 KIAA1804 1 233464401 233464409 + In_Frame_Del DEL CCGAGCGCT - g.chr1:233464401_233464409delCCGAGCGCT c.627_635delCCGAGCGCT p.209_212NRAL>K TCGA-W5-AA39-01A-11D-A417-09 KIAA1841 2 61319611 61319611 + Nonsense_Mutation SNP G A g.chr2:61319611G>A c.1101G>A p.W367* TCGA-ZH-A8Y8-01A-51D-A417-09 KIAA1958 9 115337025 115337025 + Missense_Mutation SNP G T g.chr9:115337025G>T c.665G>T p.G222V TCGA-W5-AA33-01A-11D-A417-09 KIAA2018 3 113376107 113376107 + Silent SNP C T g.chr3:113376107C>T c.4422G>A p.Q1474Q TCGA-W5-AA39-01A-11D-A417-09 KIAA2018 3 113376107 113376107 + Silent SNP C T g.chr3:113376107C>T c.4422G>A p.Q1474Q TCGA-ZD-A8I3-01A-11D-A417-09 KIAA2026 9 6007401 6007401 + Silent SNP G A g.chr9:6007401G>A c.387C>T p.F129F TCGA-ZU-A8S4-01A-11D-A417-09 KIF14 1 200587439 200587439 + Missense_Mutation SNP A C g.chr1:200587439A>C c.413T>G p.I138R TCGA-W5-AA39-01A-11D-A417-09 KIF19 17 72340424 72340424 + Missense_Mutation SNP G T g.chr17:72340424G>T c.519G>T p.E173D TCGA-3X-AAV9-01A-72D-A417-09 KIF19 17 72341086 72341086 + Missense_Mutation SNP G A g.chr17:72341086G>A c.769G>A p.A257T TCGA-W5-AA30-01A-31D-A417-09 KIF1B 1 10434992 10434992 + Missense_Mutation SNP G A g.chr1:10434992G>A c.5177G>A p.R1726H TCGA-3X-AAVC-01A-21D-A417-09 KIF1B 1 10327609 10327609 + Missense_Mutation SNP A G g.chr1:10327609A>G c.601A>G p.K201E TCGA-W5-AA39-01A-11D-A417-09 KIF1B 1 10327615 10327615 + Splice_Site SNP A T g.chr1:10327615A>T c.607A>T p.R203W TCGA-W5-AA39-01A-11D-A417-09 KIF1B 1 10331564 10331564 + Missense_Mutation SNP G T g.chr1:10331564G>T c.725G>T p.S242I TCGA-ZH-A8Y1-01A-11D-A417-09 KIF1B 1 10351202 10351202 + Missense_Mutation SNP G T g.chr1:10351202G>T c.1497G>T p.E499D TCGA-ZH-A8Y8-01A-51D-A417-09 KIF20B 10 91470854 91470854 + Missense_Mutation SNP G T g.chr10:91470854G>T c.627G>T p.E209D TCGA-ZH-A8Y6-01A-11D-A417-09 KIF21A 12 39752014 39752014 + Missense_Mutation SNP G T g.chr12:39752014G>T c.1181C>A p.T394K TCGA-3X-AAV9-01A-72D-A417-09 KIF21A 12 39701493 39701493 + Missense_Mutation SNP G T g.chr12:39701493G>T c.4316C>A p.A1439E TCGA-W5-AA2Q-01A-11D-A417-09 KIF22 16 29810382 29810382 + Missense_Mutation SNP G T g.chr16:29810382G>T c.636G>T p.Q212H TCGA-ZH-A8Y4-01A-11D-A417-09 KIF24 9 34259675 34259675 + Missense_Mutation SNP G A g.chr9:34259675G>A c.1544C>T p.A515V TCGA-W5-AA2W-01A-11D-A417-09 KIF2B 17 51902198 51902198 + Missense_Mutation SNP C T g.chr17:51902198C>T c.1804C>T p.P602S TCGA-W6-AA0S-01A-11D-A417-09 KIF3A 5 132038286 132038286 + Missense_Mutation SNP C A g.chr5:132038286C>A c.1641G>T p.K547N TCGA-W5-AA39-01A-11D-A417-09 KIF3A 5 132070088 132070088 + Nonsense_Mutation SNP G T g.chr5:132070088G>T c.89C>A p.S30* TCGA-ZH-A8Y4-01A-11D-A417-09 KIF4B 5 154396256 154396256 + Missense_Mutation SNP A C g.chr5:154396256A>C c.2837A>C p.K946T TCGA-W5-AA30-01A-31D-A417-09 KIF5A 12 57960966 57960966 + Missense_Mutation SNP G T g.chr12:57960966G>T c.559G>T p.G187W TCGA-ZH-A8Y6-01A-11D-A417-09 KIF7 15 90196148 90196148 + Missense_Mutation SNP G T g.chr15:90196148G>T c.14C>A p.A5D TCGA-W5-AA2U-01A-11D-A417-09 KIF9 3 47284677 47284677 + Missense_Mutation SNP C T g.chr3:47284677C>T c.1573G>A p.V525I TCGA-W5-AA2G-01A-11D-A417-09 KIRREL2 19 36351555 36351555 + Missense_Mutation SNP C T g.chr19:36351555C>T c.914C>T p.A305V TCGA-3X-AAVC-01A-21D-A417-09 KIRREL2 19 36352740 36352740 + Missense_Mutation SNP G T g.chr19:36352740G>T c.1324G>T p.G442W TCGA-WD-A7RX-01A-12D-A417-09 KIT 4 55597561 55597561 + Missense_Mutation SNP G A g.chr4:55597561G>A c.2209G>A p.D737N TCGA-ZH-A8Y1-01A-11D-A417-09 KLHL1 13 70456537 70456537 + Missense_Mutation SNP C A g.chr13:70456537C>A c.1105G>T p.V369F TCGA-W5-AA31-01A-11D-A417-09 KLHL11 17 40010293 40010293 + Missense_Mutation SNP T C g.chr17:40010293T>C c.1826A>G p.D609G TCGA-W5-AA2I-01A-32D-A417-09 KLHL14 18 30260289 30260289 + Splice_Site SNP C T g.chr18:30260289C>T c.1431G>A p.G477G TCGA-4G-AAZO-01A-12D-A417-09 KLHL20 1 173743534 173743534 + Silent SNP A G g.chr1:173743534A>G c.1386A>G p.L462L TCGA-3X-AAVE-01A-11D-A417-09 KLHL20 1 173722361 173722361 + Missense_Mutation SNP C T g.chr1:173722361C>T c.766C>T p.H256Y TCGA-W5-AA30-01A-31D-A417-09 KLHL25 15 86311759 86311759 + Missense_Mutation SNP G A g.chr15:86311759G>A c.1283C>T p.A428V TCGA-W5-AA2T-01A-12D-A417-09 KLHL3 5 136997638 136997638 + Missense_Mutation SNP C A g.chr5:136997638C>A c.719G>T p.R240L TCGA-4G-AAZO-01A-12D-A417-09 KLHL31 6 53519311 53519311 + Missense_Mutation SNP G T g.chr6:53519311G>T c.760C>A p.L254I TCGA-4G-AAZO-01A-12D-A417-09 KLHL31 6 53519100 53519100 + Missense_Mutation SNP C A g.chr6:53519100C>A c.971G>T p.R324L TCGA-YR-A95A-01A-12D-A417-09 KLK10 19 51518101 51518101 + Silent SNP G T g.chr19:51518101G>T c.786C>A p.I262I TCGA-W5-AA2W-01A-11D-A417-09 KLK14 19 51585890 51585890 + Silent SNP G T g.chr19:51585890G>T c.30C>A p.T10T TCGA-W5-AA2O-01A-11D-A417-09 KLK4 19 51412609 51412609 + Silent SNP C T g.chr19:51412609C>T c.123G>A p.S41S TCGA-ZH-A8Y8-01A-51D-A417-09 KLK5 19 51453322 51453322 + Missense_Mutation SNP C T g.chr19:51453322C>T c.124G>A p.V42M TCGA-3X-AAVA-01A-11D-A417-09 KLK6 19 51470530 51470530 + Missense_Mutation SNP G T g.chr19:51470530G>T c.92C>A p.T31K TCGA-W5-AA2W-01A-11D-A417-09 KLRF1 12 9985911 9985911 + Missense_Mutation SNP T C g.chr12:9985911T>C c.197T>C p.V66A TCGA-ZH-A8Y2-01A-11D-A417-09 KPNA3 13 50275983 50275983 + Missense_Mutation SNP T C g.chr13:50275983T>C c.1519A>G p.N507D TCGA-WD-A7RX-01A-12D-A417-09 KPNA5 6 117045494 117045494 + Missense_Mutation SNP A G g.chr6:117045494A>G c.955A>G p.R319G TCGA-W5-AA31-01A-11D-A417-09 KRAS 12 25398285 25398285 + Missense_Mutation SNP C G g.chr12:25398285C>G c.34G>C p.G12R TCGA-3X-AAVB-01A-31D-A417-09 KRAS 12 25380277 25380278 + Missense_Mutation DNP GA TT g.chr12:25380277_25380278GA>TT c.180_181TC>AA p.Q61K TCGA-ZH-A8Y8-01A-51D-A417-09 KRBA2 17 8274670 8274670 + Nonsense_Mutation SNP G T g.chr17:8274670G>T c.183C>A p.Y61* TCGA-ZH-A8Y8-01A-51D-A417-09 KRCC1 2 88328025 88328027 + In_Frame_Del DEL TAA - g.chr2:88328025_88328027delTAA c.56_58delTTA p.I19del TCGA-3X-AAVE-01A-11D-A417-09 KREMEN2 16 3016345 3016345 + Nonsense_Mutation SNP C A g.chr16:3016345C>A c.381C>A p.C127* TCGA-3X-AAVA-01A-11D-A417-09 KRT1 12 53070970 53070970 + Splice_Site SNP T G g.chr12:53070970T>G TCGA-W5-AA2O-01A-11D-A417-09 KRT10 17 38976869 38976869 + Missense_Mutation SNP C A g.chr17:38976869C>A c.761G>T p.G254V TCGA-W5-AA39-01A-11D-A417-09 KRT3 12 53189250 53189250 + Missense_Mutation SNP G T g.chr12:53189250G>T c.577C>A p.Q193K TCGA-3X-AAVA-01A-11D-A417-09 KRT3 12 53183978 53183978 + Missense_Mutation SNP C T g.chr12:53183978C>T c.1735G>A p.G579S TCGA-ZH-A8Y4-01A-11D-A417-09 KRT7 12 52629096 52629096 + Missense_Mutation SNP G A g.chr12:52629096G>A c.482G>A p.R161H TCGA-W5-AA2X-01A-11D-A417-09 KRT74 12 52961454 52961454 + Missense_Mutation SNP G T g.chr12:52961454G>T c.1379C>A p.S460Y TCGA-W5-AA34-01A-11D-A417-09 KRT8 12 53294404 53294404 + Nonsense_Mutation SNP C A g.chr12:53294404C>A c.658G>T p.E220* TCGA-YR-A95A-01A-12D-A417-09 KRT81 12 52685191 52685191 + Missense_Mutation SNP G A g.chr12:52685191G>A c.59C>T p.P20L TCGA-ZH-A8Y2-01A-11D-A417-09 KRT85 12 52757179 52757180 + Missense_Mutation DNP GG TT g.chr12:52757179_52757180GG>TT c.801_802CC>AA p.Q268K TCGA-W5-AA39-01A-11D-A417-09 KRTAP10-7 21 46020608 46020608 + Silent SNP C T g.chr21:46020608C>T c.87C>T p.S29S TCGA-ZD-A8I3-01A-11D-A417-09 KRTAP12-2 21 46086661 46086661 + Missense_Mutation SNP A G g.chr21:46086661A>G c.143T>C p.V48A TCGA-W5-AA2W-01A-11D-A417-09 KRTAP13-2 21 31744209 31744209 + Missense_Mutation SNP C T g.chr21:31744209C>T c.323G>A p.R108H TCGA-W5-AA2R-01A-11D-A417-09 KRTAP27-1 21 31709645 31709645 + Silent SNP C T g.chr21:31709645C>T c.342G>A p.Q114Q TCGA-3X-AAVC-01A-21D-A417-09 KRTAP4-2 17 39334273 39334273 + Silent SNP C G g.chr17:39334273C>G c.144G>C p.P48P TCGA-ZH-A8Y6-01A-11D-A417-09 KRTAP4-3 17 39324095 39324095 + Silent SNP G A g.chr17:39324095G>A c.330C>T p.C110C TCGA-3X-AAV9-01A-72D-A417-09 KRTAP4-7 17 39240791 39240791 + Silent SNP C T g.chr17:39240791C>T c.333C>T p.R111R TCGA-ZH-A8Y1-01A-11D-A417-09 KRTAP5-4 11 1643279 1643279 + Silent SNP C T g.chr11:1643279C>T c.45G>A p.G15G TCGA-W5-AA30-01A-31D-A417-09 KRTAP5-5 11 1651645 1651645 + Missense_Mutation SNP A G g.chr11:1651645A>G c.575A>G p.Y192C TCGA-3X-AAVA-01A-11D-A417-09 KRTAP5-5 11 1651251 1651251 + Missense_Mutation SNP G A g.chr11:1651251G>A c.181G>A p.G61S TCGA-3X-AAVB-01A-31D-A417-09 KRTAP5-5 11 1651115 1651115 + Silent SNP A G g.chr11:1651115A>G c.45A>G p.G15G TCGA-3X-AAVC-01A-21D-A417-09 KRTAP9-3 17 39389206 39389206 + Silent SNP C T g.chr17:39389206C>T c.453C>T p.Y151Y TCGA-W5-AA2Z-01A-11D-A417-09 KRTDAP 19 35978354 35978354 + Silent SNP C T g.chr19:35978354C>T c.276G>A p.R92R TCGA-W5-AA2O-01A-11D-A417-09 KTI12 1 52498812 52498812 + Missense_Mutation SNP G T g.chr1:52498812G>T c.622C>A p.L208I TCGA-W5-AA2U-01A-11D-A417-09 KTN1 14 56079169 56079169 + Missense_Mutation SNP G T g.chr14:56079169G>T c.403G>T p.A135S TCGA-W5-AA30-01A-31D-A417-09 KYNU 2 143799625 143799625 + Missense_Mutation SNP C G g.chr2:143799625C>G c.1282C>G p.R428G TCGA-3X-AAV9-01A-72D-A417-09 L1TD1 1 62672856 62672856 + Nonsense_Mutation SNP G T g.chr1:62672856G>T c.556G>T p.G186* TCGA-ZH-A8Y4-01A-11D-A417-09 LAIR2 19 55019357 55019357 + Missense_Mutation SNP G A g.chr19:55019357G>A c.322G>A p.G108R TCGA-W5-AA2T-01A-12D-A417-09 LAMA1 18 6997830 6997830 + Missense_Mutation SNP C G g.chr18:6997830C>G c.4717G>C p.D1573H TCGA-ZD-A8I3-01A-11D-A417-09 LAMA1 18 7037680 7037680 + Missense_Mutation SNP G A g.chr18:7037680G>A c.1634C>T p.A545V TCGA-ZH-A8Y6-01A-11D-A417-09 LAMA2 6 129777488 129777488 + Missense_Mutation SNP G T g.chr6:129777488G>T c.6716G>T p.R2239I TCGA-3X-AAVB-01A-31D-A417-09 LAMA2 6 129588265 129588265 + Silent SNP G A g.chr6:129588265G>A c.2223G>A p.R741R TCGA-4G-AAZO-01A-12D-A417-09 LAMA3 18 21513818 21513818 + Silent SNP C T g.chr18:21513818C>T c.8781C>T p.C2927C TCGA-W5-AA2O-01A-11D-A417-09 LAMA3 18 21437935 21437935 + Missense_Mutation SNP G C g.chr18:21437935G>C c.4264G>C p.G1422R TCGA-W5-AA2Q-01A-11D-A417-09 LAMA3 18 21526190 21526190 + Missense_Mutation SNP C T g.chr18:21526190C>T c.9293C>T p.S3098F TCGA-W5-AA30-01A-31D-A417-09 LAMA4 6 112510361 112510361 + Nonsense_Mutation SNP G T g.chr6:112510361G>T c.765C>A p.C255* TCGA-3X-AAV9-01A-72D-A417-09 LAMA4 6 112450203 112450203 + Missense_Mutation SNP G T g.chr6:112450203G>T c.4208C>A p.P1403H TCGA-W6-AA0S-01A-11D-A417-09 LAMA4 6 112463373 112463373 + Missense_Mutation SNP G T g.chr6:112463373G>T c.2615C>A p.P872Q TCGA-ZH-A8Y6-01A-11D-A417-09 LAMA5 20 60887332 60887332 + Missense_Mutation SNP C A g.chr20:60887332C>A c.9401G>T p.R3134L TCGA-ZH-A8Y5-01A-11D-A417-09 LAMB3 1 209791986 209791986 + Missense_Mutation SNP G A g.chr1:209791986G>A c.2720C>T p.A907V TCGA-W5-AA2W-01A-11D-A417-09 LAMB3 1 209801446 209801446 + Missense_Mutation SNP C G g.chr1:209801446C>G c.1222G>C p.E408Q TCGA-W5-AA39-01A-11D-A417-09 LAMC1 1 183093839 183093839 + Silent SNP C T g.chr1:183093839C>T c.2475C>T p.C825C TCGA-W5-AA2Z-01A-11D-A417-09 LAMC3 9 133942411 133942411 + Silent SNP C A g.chr9:133942411C>A c.2412C>A p.P804P TCGA-W5-AA2O-01A-11D-A417-09 LAP3 4 17600083 17600083 + Missense_Mutation SNP A C g.chr4:17600083A>C c.1082A>C p.D361A TCGA-W5-AA39-01A-11D-A417-09 LARP1 5 154190824 154190824 + Missense_Mutation SNP T C g.chr5:154190824T>C c.2630T>C p.L877P TCGA-W5-AA2G-01A-11D-A417-09 LARP1B 4 129121738 129121738 + Missense_Mutation SNP T C g.chr4:129121738T>C c.2227T>C p.F743L TCGA-3X-AAV9-01A-72D-A417-09 LARP4 12 50855117 50855117 + Missense_Mutation SNP T C g.chr12:50855117T>C c.1321T>C p.Y441H TCGA-W5-AA39-01A-11D-A417-09 LARS2 3 45500306 45500306 + Silent SNP A T g.chr3:45500306A>T c.678A>T p.S226S TCGA-4G-AAZO-01A-12D-A417-09 LASP1 17 37071356 37071356 + Missense_Mutation SNP C T g.chr17:37071356C>T c.569C>T p.A190V TCGA-W5-AA2R-01A-11D-A417-09 LAX1 1 203743058 203743058 + Missense_Mutation SNP A G g.chr1:203743058A>G c.446A>G p.E149G TCGA-W5-AA30-01A-31D-A417-09 LBR 1 225607439 225607439 + Missense_Mutation SNP T C g.chr1:225607439T>C c.428A>G p.D143G TCGA-W5-AA2W-01A-11D-A417-09 LCE1B 1 152785258 152785258 + Silent SNP G A g.chr1:152785258G>A c.336G>A p.Q112Q TCGA-W5-AA2X-01A-11D-A417-09 LCE2B 1 152659372 152659372 + Missense_Mutation SNP C T g.chr1:152659372C>T c.53C>T p.P18L TCGA-W6-AA0S-01A-11D-A417-09 LCE4A 1 152681695 152681696 + Missense_Mutation DNP TG CT g.chr1:152681695_152681696TG>CT c.144_145TG>CT p.G49C TCGA-3X-AAVC-01A-21D-A417-09 LCE4A 1 152681679 152681680 + Missense_Mutation DNP CC GT g.chr1:152681679_152681680CC>GT c.128_129CC>GT p.S43C TCGA-W5-AA2R-01A-11D-A417-09 LCN12 9 139846784 139846784 + Missense_Mutation SNP G T g.chr9:139846784G>T c.5G>T p.R2M TCGA-4G-AAZT-01A-11D-A417-09 LCN12 9 139848199 139848199 + Missense_Mutation SNP A G g.chr9:139848199A>G c.299A>G p.Q100R TCGA-W5-AA39-01A-11D-A417-09 LCOR 10 98708964 98708964 + Silent SNP C T g.chr10:98708964C>T c.150C>T p.N50N TCGA-W5-AA34-01A-11D-A417-09 LCP1 13 46732997 46732997 + Missense_Mutation SNP G T g.chr13:46732997G>T c.192C>A p.D64E TCGA-WD-A7RX-01A-12D-A417-09 LDB3 10 88477868 88477868 + Silent SNP G T g.chr10:88477868G>T c.1824G>T p.P608P TCGA-W5-AA2X-01A-11D-A417-09 LDLR 19 11230846 11230846 + Silent SNP T C g.chr19:11230846T>C c.1924T>C p.L642L TCGA-W5-AA2Q-01A-11D-A417-09 LDLRAD1 1 54474764 54474764 + Missense_Mutation SNP C A g.chr1:54474764C>A c.509G>T p.C170F TCGA-W5-AA2U-01A-11D-A417-09 LDOC1L 22 44893393 44893393 + Missense_Mutation SNP G T g.chr22:44893393G>T c.44C>A p.A15E TCGA-ZH-A8Y6-01A-11D-A417-09 LEF1 4 109086281 109086281 + Silent SNP G A g.chr4:109086281G>A c.252C>T p.H84H TCGA-3X-AAVA-01A-11D-A417-09 LENG1 19 54662171 54662171 + Missense_Mutation SNP G T g.chr19:54662171G>T c.161C>A p.A54D TCGA-3X-AAVA-01A-11D-A417-09 LEO1 15 52242142 52242142 + Missense_Mutation SNP C T g.chr15:52242142C>T c.1661G>A p.R554H TCGA-W5-AA39-01A-11D-A417-09 LEO1 15 52252121 52252121 + Missense_Mutation SNP G A g.chr15:52252121G>A c.1135C>T p.P379S TCGA-W6-AA0S-01A-11D-A417-09 LEPROT 1 65895660 65895660 + Missense_Mutation SNP G A g.chr1:65895660G>A c.208G>A p.A70T TCGA-W5-AA2R-01A-11D-A417-09 LGI1 10 95557554 95557554 + Silent SNP C T g.chr10:95557554C>T c.1668C>T p.S556S TCGA-W5-AA2T-01A-12D-A417-09 LGI2 4 25014069 25014069 + Missense_Mutation SNP G T g.chr4:25014069G>T c.708C>A p.F236L TCGA-4G-AAZO-01A-12D-A417-09 LGI3 8 22005731 22005731 + Missense_Mutation SNP G T g.chr8:22005731G>T c.1589C>A p.P530H TCGA-ZH-A8Y6-01A-11D-A417-09 LIAS 4 39472905 39472905 + Missense_Mutation SNP G C g.chr4:39472905G>C c.543G>C p.Q181H TCGA-W5-AA2R-01A-11D-A417-09 LIG3 17 33310393 33310393 + Silent SNP G T g.chr17:33310393G>T c.369G>T p.V123V TCGA-W6-AA0S-01A-11D-A417-09 LILRA1 19 55106239 55106239 + Silent SNP G A g.chr19:55106239G>A c.180G>A p.L60L TCGA-W5-AA2X-01A-11D-A417-09 LILRB1 19 55146734 55146734 + Silent SNP G A g.chr19:55146734G>A c.1584G>A p.Q528Q TCGA-3X-AAVA-01A-11D-A417-09 LILRB4 19 55179365 55179365 + Silent SNP G A g.chr19:55179365G>A c.1242G>A p.Q414Q TCGA-W5-AA34-01A-11D-A417-09 LILRB5 19 54760466 54760466 + Missense_Mutation SNP C T g.chr19:54760466C>T c.241G>A p.A81T TCGA-WD-A7RX-01A-12D-A417-09 LIM2 19 51883801 51883801 + Missense_Mutation SNP A G g.chr19:51883801A>G c.418T>C p.Y140H TCGA-W5-AA2W-01A-11D-A417-09 LIM2 19 51890594 51890594 + Missense_Mutation SNP C T g.chr19:51890594C>T c.104G>A p.G35E TCGA-ZH-A8Y5-01A-11D-A417-09 LIMA1 12 50625494 50625494 + Splice_Site SNP C T g.chr12:50625494C>T TCGA-W5-AA2X-01A-11D-A417-09 LIMD1 3 45637209 45637209 + Missense_Mutation SNP T G g.chr3:45637209T>G c.838T>G p.L280V TCGA-W5-AA39-01A-11D-A417-09 LIPA 10 90974598 90974598 + Missense_Mutation SNP C T g.chr10:90974598C>T c.1187G>A p.R396K TCGA-ZH-A8Y6-01A-11D-A417-09 LIPC 15 58834114 58834114 + Missense_Mutation SNP G A g.chr15:58834114G>A c.404G>A p.R135H TCGA-WD-A7RX-01A-12D-A417-09 LIPF 10 90429680 90429680 + Missense_Mutation SNP G T g.chr10:90429680G>T c.509G>T p.G170V TCGA-3X-AAVA-01A-11D-A417-09 LIX1L 1 145498117 145498117 + Silent SNP T G g.chr1:145498117T>G c.708T>G p.V236V TCGA-W5-AA39-01A-11D-A417-09 LLGL2 17 73569305 73569305 + Missense_Mutation SNP C T g.chr17:73569305C>T c.2671C>T p.R891C TCGA-W5-AA2X-01A-11D-A417-09 LMAN2L 2 97373516 97373516 + Missense_Mutation SNP G T g.chr2:97373516G>T c.839C>A p.P280Q TCGA-3X-AAVE-01A-11D-A417-09 LMBR1 7 156480753 156480753 + Missense_Mutation SNP G A g.chr7:156480753G>A c.1358C>T p.A453V TCGA-W5-AA2X-01A-11D-A417-09 LMBR1 7 156589175 156589175 + Missense_Mutation SNP G A g.chr7:156589175G>A c.331C>T p.L111F TCGA-W5-AA39-01A-11D-A417-09 LMLN 3 197703534 197703534 + Missense_Mutation SNP G T g.chr3:197703534G>T c.497G>T p.C166F TCGA-3X-AAVB-01A-31D-A417-09 LMNA 1 156106775 156106775 + Missense_Mutation SNP C T g.chr1:156106775C>T c.1444C>T p.R482W TCGA-3X-AAVC-01A-21D-A417-09 LMNB1 5 126156635 126156635 + Silent SNP G T g.chr5:126156635G>T c.1194G>T p.V398V TCGA-W5-AA2I-01A-32D-A417-09 LMNB1 5 126140499 126140499 + Missense_Mutation SNP G T g.chr5:126140499G>T c.391G>T p.A131S TCGA-W5-AA30-01A-31D-A417-09 LMO2 11 33881017 33881017 + Missense_Mutation SNP T C g.chr11:33881017T>C c.362A>G p.K121R TCGA-W5-AA2U-01A-11D-A417-09 LMOD2 7 123303794 123303794 + Nonsense_Mutation SNP C T g.chr7:123303794C>T c.1639C>T p.R547* TCGA-ZU-A8S4-01A-11D-A417-09 LMTK2 7 97820972 97820972 + Missense_Mutation SNP G T g.chr7:97820972G>T c.1195G>T p.A399S TCGA-W6-AA0S-01A-11D-A417-09 LNP1 3 100170610 100170610 + Silent SNP G A g.chr3:100170610G>A c.204G>A p.R68R TCGA-W5-AA31-01A-11D-A417-09 LNX2 13 28122525 28122525 + Nonsense_Mutation SNP G A g.chr13:28122525G>A c.2020C>T p.Q674* TCGA-3X-AAVC-01A-21D-A417-09 LOC55908 19 11352354 11352354 + Silent SNP C A g.chr19:11352354C>A c.588C>A p.L196L TCGA-4G-AAZO-01A-12D-A417-09 LOC729991-MEF2B 19 19261516 19261516 + Missense_Mutation SNP C T g.chr19:19261516C>T c.29G>A p.R10H TCGA-YR-A95A-01A-12D-A417-09 LOC81691 16 20843488 20843488 + Missense_Mutation SNP T C g.chr16:20843488T>C c.1169T>C p.L390P TCGA-ZH-A8Y1-01A-11D-A417-09 LONP2 16 48333669 48333669 + Missense_Mutation SNP C T g.chr16:48333669C>T c.1631C>T p.P544L TCGA-ZH-A8Y6-01A-11D-A417-09 LONRF1 8 12586483 12586483 + Missense_Mutation SNP C A g.chr8:12586483C>A c.1937G>T p.R646L TCGA-W5-AA31-01A-11D-A417-09 LOXL2 8 23198669 23198669 + Silent SNP T G g.chr8:23198669T>G c.579A>C p.S193S TCGA-W5-AA39-01A-11D-A417-09 LPCAT1 5 1489863 1489863 + Missense_Mutation SNP G T g.chr5:1489863G>T c.604C>A p.Q202K TCGA-ZH-A8Y6-01A-11D-A417-09 LPHN1 19 14267774 14267774 + Missense_Mutation SNP C T g.chr19:14267774C>T c.2944G>A p.A982T TCGA-W5-AA2G-01A-11D-A417-09 LPHN1 19 14266967 14266967 + Missense_Mutation SNP C T g.chr19:14266967C>T c.3095G>A p.S1032N TCGA-WD-A7RX-01A-12D-A417-09 LPHN3 4 62845391 62845391 + Silent SNP G T g.chr4:62845391G>T c.2712G>T p.G904G TCGA-W5-AA2I-01A-32D-A417-09 LPIN1 2 11913797 11913797 + Silent SNP C T g.chr2:11913797C>T c.648C>T p.N216N TCGA-W5-AA2X-01A-11D-A417-09 LPIN1 2 11943082 11943082 + Missense_Mutation SNP C A g.chr2:11943082C>A c.1828C>A p.P610T TCGA-W6-AA0S-01A-11D-A417-09 LPIN2 18 2923829 2923829 + Silent SNP C T g.chr18:2923829C>T c.2118G>A p.Q706Q TCGA-W5-AA2H-01A-31D-A417-09 LPIN2 18 2937759 2937759 + Missense_Mutation SNP C A g.chr18:2937759C>A c.1099G>T p.A367S TCGA-ZH-A8Y5-01A-11D-A417-09 LPO 17 56343531 56343531 + Missense_Mutation SNP G T g.chr17:56343531G>T c.1537G>T p.V513L TCGA-W5-AA2X-01A-11D-A417-09 LPP 3 188590442 188590442 + Missense_Mutation SNP C T g.chr3:188590442C>T c.1601C>T p.P534L TCGA-W5-AA2R-01A-11D-A417-09 LRBA 4 151242369 151242369 + Missense_Mutation SNP G A g.chr4:151242369G>A c.7637C>T p.A2546V TCGA-3X-AAVC-01A-21D-A417-09 LRCH2 23 114357150 114357150 + Silent SNP T C g.chrX:114357150T>C c.2118A>G p.A706A TCGA-ZH-A8Y4-01A-11D-A417-09 LRCH3 3 197547212 197547212 + Missense_Mutation SNP A G g.chr3:197547212A>G c.551A>G p.E184G TCGA-W5-AA34-01A-11D-A417-09 LRFN4 11 66625573 66625573 + Missense_Mutation SNP G A g.chr11:66625573G>A c.358G>A p.V120I TCGA-W5-AA2X-01A-11D-A417-09 LRIT3 4 110788888 110788888 + Missense_Mutation SNP T A g.chr4:110788888T>A c.681T>A p.D227E TCGA-W5-AA2Q-01A-11D-A417-09 LRIT3 4 110788871 110788871 + Missense_Mutation SNP G A g.chr4:110788871G>A c.664G>A p.A222T TCGA-ZH-A8Y8-01A-51D-A417-09 LRP1 12 57586977 57586977 + Missense_Mutation SNP G A g.chr12:57586977G>A c.7574G>A p.R2525Q TCGA-4G-AAZT-01A-11D-A417-09 LRP1 12 57584755 57584755 + Missense_Mutation SNP A C g.chr12:57584755A>C c.7199A>C p.K2400T TCGA-W5-AA39-01A-11D-A417-09 LRP1 12 57569279 57569279 + Missense_Mutation SNP A G g.chr12:57569279A>G c.3584A>G p.N1195S TCGA-ZD-A8I3-01A-11D-A417-09 LRP12 8 105510177 105510177 + Silent SNP G A g.chr8:105510177G>A c.603C>T p.A201A TCGA-W5-AA2U-01A-11D-A417-09 LRP1B 2 141004670 141004670 + Missense_Mutation SNP C G g.chr2:141004670C>G c.13309G>C p.D4437H TCGA-3X-AAVC-01A-21D-A417-09 LRP1B 2 141128375 141128375 + Silent SNP G T g.chr2:141128375G>T c.10912C>A p.R3638R TCGA-W5-AA2Q-01A-11D-A417-09 LRP1B 2 141528562 141528562 + Silent SNP G A g.chr2:141528562G>A c.5514C>T p.C1838C TCGA-W5-AA2T-01A-12D-A417-09 LRP1B 2 141812690 141812690 + Missense_Mutation SNP C T g.chr2:141812690C>T c.1547G>A p.C516Y TCGA-W5-AA2U-01A-11D-A417-09 LRP1B 2 141660609 141660609 + Missense_Mutation SNP C G g.chr2:141660609C>G c.3646G>C p.D1216H TCGA-W6-AA0S-01A-11D-A417-09 LRP1B 2 141812821 141812821 + Missense_Mutation SNP G C g.chr2:141812821G>C c.1416C>G p.S472R TCGA-ZD-A8I3-01A-11D-A417-09 LRP2 2 170103393 170103393 + Missense_Mutation SNP C A g.chr2:170103393C>A c.3012G>T p.M1004I TCGA-W5-AA2G-01A-11D-A417-09 LRP2 2 170062925 170062925 + Missense_Mutation SNP G T g.chr2:170062925G>T c.7305C>A p.F2435L TCGA-YR-A95A-01A-12D-A417-09 LRP4 11 46897416 46897416 + Missense_Mutation SNP G T g.chr11:46897416G>T c.3638C>A p.P1213H TCGA-W5-AA2G-01A-11D-A417-09 LRP5 11 68115583 68115583 + Missense_Mutation SNP G T g.chr11:68115583G>T c.360G>T p.K120N TCGA-W5-AA34-01A-11D-A417-09 LRP6 12 12279634 12279634 + Missense_Mutation SNP A T g.chr12:12279634A>T c.4303T>A p.S1435T TCGA-W5-AA39-01A-11D-A417-09 LRP6 12 12279840 12279840 + Missense_Mutation SNP G A g.chr12:12279840G>A c.4097C>T p.P1366L TCGA-W5-AA39-01A-11D-A417-09 LRP6 12 12291295 12291295 + Missense_Mutation SNP T C g.chr12:12291295T>C c.3571A>G p.I1191V TCGA-W5-AA39-01A-11D-A417-09 LRP6 12 12300324 12300324 + Silent SNP G T g.chr12:12300324G>T c.3373C>A p.R1125R TCGA-WD-A7RX-01A-12D-A417-09 LRP8 1 53716447 53716447 + Missense_Mutation SNP G T g.chr1:53716447G>T c.2591C>A p.P864Q TCGA-4G-AAZO-01A-12D-A417-09 LRP8 1 53730058 53730058 + Missense_Mutation SNP C T g.chr1:53730058C>T c.1438G>A p.D480N TCGA-4G-AAZO-01A-12D-A417-09 LRRC1 6 53764614 53764614 + Nonsense_Mutation SNP G T g.chr6:53764614G>T c.712G>T p.E238* TCGA-W5-AA2G-01A-11D-A417-09 LRRC15 3 194080098 194080098 + Missense_Mutation SNP C T g.chr3:194080098C>T c.1675G>A p.V559I TCGA-3X-AAVE-01A-11D-A417-09 LRRC16B 14 24532678 24532678 + Missense_Mutation SNP G A g.chr14:24532678G>A c.2915G>A p.R972K TCGA-W5-AA39-01A-11D-A417-09 LRRC2 3 46563075 46563075 + Silent SNP G T g.chr3:46563075G>T c.1003C>A p.R335R TCGA-ZH-A8Y5-01A-11D-A417-09 LRRC23 12 7022136 7022136 + Missense_Mutation SNP G T g.chr12:7022136G>T c.1001G>T p.R334L TCGA-3X-AAVA-01A-11D-A417-09 LRRC37A3 17 62856687 62856687 + Missense_Mutation SNP C A g.chr17:62856687C>A c.3577G>T p.A1193S TCGA-W5-AA2O-01A-11D-A417-09 LRRC4 7 127669004 127669004 + Silent SNP G T g.chr7:127669004G>T c.1690C>A p.R564R TCGA-W5-AA38-01A-11D-A417-09 LRRC43 12 122685442 122685442 + Silent SNP G T g.chr12:122685442G>T c.1770G>T p.V590V TCGA-YR-A95A-01A-12D-A417-09 LRRC45 17 79987031 79987031 + Missense_Mutation SNP G T g.chr17:79987031G>T c.1371G>T p.R457S TCGA-W5-AA30-01A-31D-A417-09 LRRC48 17 17907739 17907739 + Silent SNP C T g.chr17:17907739C>T c.1062C>T p.C354C TCGA-W5-AA2I-01A-32D-A417-09 LRRC49 15 71341747 71341747 + Splice_Site SNP G T g.chr15:71341747G>T TCGA-ZH-A8Y1-01A-11D-A417-09 LRRC52 1 165513993 165513993 + Missense_Mutation SNP T C g.chr1:165513993T>C c.460T>C p.Y154H TCGA-W5-AA30-01A-31D-A417-09 LRRC55 11 56949739 56949739 + Silent SNP G A g.chr11:56949739G>A c.372G>A p.P124P TCGA-W6-AA0S-01A-11D-A417-09 LRRC6 8 133627332 133627332 + Missense_Mutation SNP G A g.chr8:133627332G>A c.926C>T p.S309F TCGA-W5-AA2Q-01A-11D-A417-09 LRRC66 4 52860592 52860592 + Missense_Mutation SNP G T g.chr4:52860592G>T c.2596C>A p.P866T TCGA-W5-AA34-01A-11D-A417-09 LRRC7 1 70504282 70504282 + Silent SNP T C g.chr1:70504282T>C c.2661T>C p.P887P TCGA-W5-AA2T-01A-12D-A417-09 LRRC8B 1 90049514 90049514 + Silent SNP T C g.chr1:90049514T>C c.1305T>C p.N435N TCGA-W5-AA39-01A-11D-A417-09 LRRCC1 8 86057705 86057705 + Missense_Mutation SNP C A g.chr8:86057705C>A c.3058C>A p.Q1020K TCGA-3X-AAVC-01A-21D-A417-09 LRRCC1 8 86022348 86022348 + Splice_Site SNP A T g.chr8:86022348A>T TCGA-W5-AA2T-01A-12D-A417-09 LRRCC1 8 86038933 86038933 + Nonsense_Mutation SNP G T g.chr8:86038933G>T c.1282G>T p.E428* TCGA-W5-AA2U-01A-11D-A417-09 LRRFIP1 2 238672115 238672115 + Missense_Mutation SNP A T g.chr2:238672115A>T c.1759A>T p.T587S TCGA-W5-AA2W-01A-11D-A417-09 LRRFIP1 2 238683054 238683054 + Silent SNP A G g.chr2:238683054A>G c.1761A>G p.A587A TCGA-ZD-A8I3-01A-11D-A417-09 LRRIQ1 12 85547524 85547524 + Missense_Mutation SNP T A g.chr12:85547524T>A c.4625T>A p.I1542N TCGA-ZH-A8Y6-01A-11D-A417-09 LRRIQ3 1 74648427 74648427 + Missense_Mutation SNP G T g.chr1:74648427G>T c.368C>A p.T123N TCGA-ZH-A8Y6-01A-11D-A417-09 LRRIQ4 3 169555341 169555341 + Missense_Mutation SNP G T g.chr3:169555341G>T c.1605G>T p.K535N TCGA-ZH-A8Y2-01A-11D-A417-09 LRRK1 15 101566296 101566296 + Missense_Mutation SNP G T g.chr15:101566296G>T c.2359G>T p.G787C TCGA-W5-AA30-01A-31D-A417-09 LRRK2 12 40668732 40668732 + Silent SNP G T g.chr12:40668732G>T c.1878G>T p.L626L TCGA-W5-AA34-01A-11D-A417-09 LRRTM3 10 68686686 68686686 + Silent SNP T C g.chr10:68686686T>C c.12T>C p.N4N TCGA-W5-AA39-01A-11D-A417-09 LRRTM4 2 77745440 77745440 + Intron SNP A G g.chr2:77745440A>G TCGA-W5-AA2X-01A-11D-A417-09 LRTM2 12 1943445 1943445 + Missense_Mutation SNP A G g.chr12:1943445A>G c.671A>G p.D224G TCGA-W5-AA2I-01A-32D-A417-09 LTBP1 2 33540337 33540337 + Splice_Site SNP G T g.chr2:33540337G>T TCGA-W5-AA30-01A-31D-A417-09 LY75 2 160731975 160731975 + Missense_Mutation SNP C A g.chr2:160731975C>A c.1954G>T p.A652S TCGA-ZU-A8S4-01A-11D-A417-09 LYPLAL1 1 219384997 219384997 + Missense_Mutation SNP G T g.chr1:219384997G>T c.641G>T p.S214I TCGA-W5-AA2W-01A-11D-A417-09 LYSMD4 15 100272030 100272030 + Missense_Mutation SNP C T g.chr15:100272030C>T c.175G>A p.G59S TCGA-4G-AAZO-01A-12D-A417-09 LYST 1 235827341 235827341 + Missense_Mutation SNP C A g.chr1:235827341C>A c.11210G>T p.W3737L TCGA-4G-AAZO-01A-12D-A417-09 LYST 1 235878584 235878584 + Missense_Mutation SNP C T g.chr1:235878584C>T c.9701G>A p.G3234D TCGA-4G-AAZO-01A-12D-A417-09 LYST 1 235972607 235972607 + Missense_Mutation SNP C T g.chr1:235972607C>T c.1511G>A p.C504Y TCGA-ZH-A8Y6-01A-11D-A417-09 MACF1 1 39798190 39798190 + Missense_Mutation SNP A G g.chr1:39798190A>G c.5945A>G p.N1982S TCGA-3X-AAVE-01A-11D-A417-09 MACF1 1 39766025 39766025 + Missense_Mutation SNP G T g.chr1:39766025G>T c.2640G>T p.R880S TCGA-W5-AA2O-01A-11D-A417-09 MACF1 1 39903515 39903515 + Missense_Mutation SNP C T g.chr1:39903515C>T c.17752C>T p.P5918S TCGA-ZH-A8Y2-01A-11D-A417-09 MACROD2 20 16025251 16025251 + Missense_Mutation SNP C A g.chr20:16025251C>A c.1267C>A p.P423T TCGA-W5-AA39-01A-11D-A417-09 MAEL 1 166963277 166963277 + Missense_Mutation SNP G A g.chr1:166963277G>A c.494G>A p.R165Q TCGA-ZH-A8Y4-01A-11D-A417-09 MAGEA1 23 152482527 152482527 + Frame_Shift_Del DEL C - g.chrX:152482527delC c.484delG p.A162fs TCGA-W5-AA2U-01A-11D-A417-09 MAGEA1 23 152482528 152482528 + Missense_Mutation SNP T G g.chrX:152482528T>G c.483A>C p.E161D TCGA-W5-AA2U-01A-11D-A417-09 MAGEB10 23 27840135 27840135 + Missense_Mutation SNP C T g.chrX:27840135C>T c.712C>T p.H238Y TCGA-3X-AAVA-01A-11D-A417-09 MAGEC1 23 140994602 140994602 + Missense_Mutation SNP A T g.chrX:140994602A>T c.1412A>T p.E471V TCGA-3X-AAV9-01A-72D-A417-09 MAGEC1 23 140995729 140995729 + Missense_Mutation SNP C A g.chrX:140995729C>A c.2539C>A p.P847T TCGA-W5-AA2U-01A-11D-A417-09 MAGEC3 23 140984709 140984709 + Missense_Mutation SNP C A g.chrX:140984709C>A c.1165C>A p.Q389K TCGA-3X-AAV9-01A-72D-A417-09 MAGED1 23 51640334 51640334 + Nonsense_Mutation SNP A T g.chrX:51640334A>T c.1453A>T p.K485* TCGA-W5-AA2I-01A-32D-A417-09 MAGED1 23 51640347 51640347 + Missense_Mutation SNP A G g.chrX:51640347A>G c.1466A>G p.K489R TCGA-W5-AA33-01A-11D-A417-09 MAGED1 23 51644872 51644872 + Missense_Mutation SNP C A g.chrX:51644872C>A c.2183C>A p.S728Y TCGA-W5-AA39-01A-11D-A417-09 MAGED1 23 51639969 51639969 + Silent SNP A G g.chrX:51639969A>G c.1218A>G p.L406L TCGA-ZH-A8Y1-01A-11D-A417-09 MAGEE1 23 75650880 75650880 + Missense_Mutation SNP A T g.chrX:75650880A>T c.2557A>T p.R853W TCGA-W5-AA2G-01A-11D-A417-09 MAGEE1 23 75648348 75648350 + In_Frame_Del DEL CGC - g.chrX:75648348_75648350delCGC c.25_27delCGC p.R14del TCGA-W5-AA2X-01A-11D-A417-09 MAGEH1 23 55479371 55479371 + Silent SNP T G g.chrX:55479371T>G c.564T>G p.S188S TCGA-W5-AA39-01A-11D-A417-09 MAGEL2 15 23892486 23892486 + 5'Flank SNP G T g.chr15:23892486G>T TCGA-ZH-A8Y5-01A-11D-A417-09 MAMDC4 9 139754378 139754378 + IGR SNP C A g.chr9:139754378C>A TCGA-4G-AAZO-01A-12D-A417-09 MAML2 11 95825221 95825221 + Silent SNP C T g.chr11:95825221C>T c.1974G>A p.Q658Q TCGA-W5-AA2W-01A-11D-A417-09 MAML2 11 95825221 95825221 + Silent SNP C T g.chr11:95825221C>T c.1974G>A p.Q658Q TCGA-W5-AA31-01A-11D-A417-09 MAML2 11 95825407 95825407 + Silent SNP C T g.chr11:95825407C>T c.1788G>A p.Q596Q TCGA-W5-AA38-01A-11D-A417-09 MAML2 11 95825254 95825254 + Silent SNP C T g.chr11:95825254C>T c.1941G>A p.Q647Q TCGA-ZD-A8I3-01A-11D-A417-09 MAML2 11 95825254 95825254 + Silent SNP C T g.chr11:95825254C>T c.1941G>A p.Q647Q TCGA-ZH-A8Y2-01A-11D-A417-09 MAML2 11 95825254 95825254 + Silent SNP C T g.chr11:95825254C>T c.1941G>A p.Q647Q TCGA-ZH-A8Y8-01A-51D-A417-09 MAML3 4 140811971 140811971 + Missense_Mutation SNP G A g.chr4:140811971G>A c.619C>T p.P207S TCGA-W5-AA33-01A-11D-A417-09 MAML3 4 140811120 140811120 + Silent SNP C T g.chr4:140811120C>T c.1470G>A p.Q490Q TCGA-ZH-A8Y6-01A-11D-A417-09 MAN1A2 1 117957335 117957335 + Splice_Site SNP G C g.chr1:117957335G>C c.656G>C p.G219A TCGA-3X-AAVA-01A-11D-A417-09 MAN1C1 1 26079974 26079974 + Splice_Site SNP G T g.chr1:26079974G>T TCGA-3X-AAV9-01A-72D-A417-09 MANBA 4 103560932 103560932 + Missense_Mutation SNP G A g.chr4:103560932G>A c.1952C>T p.T651M TCGA-ZH-A8Y5-01A-11D-A417-09 MAOB 23 43652720 43652720 + Missense_Mutation SNP C T g.chrX:43652720C>T c.874G>A p.G292S TCGA-W5-AA2R-01A-11D-A417-09 MAP1A 15 43818597 43818597 + Missense_Mutation SNP G T g.chr15:43818597G>T c.4926G>T p.R1642S TCGA-W5-AA2W-01A-11D-A417-09 MAP1A 15 43818646 43818646 + Missense_Mutation SNP G A g.chr15:43818646G>A c.4975G>A p.E1659K TCGA-W6-AA0S-01A-11D-A417-09 MAP1B 5 71491850 71491850 + Nonsense_Mutation SNP G T g.chr5:71491850G>T c.2668G>T p.E890* TCGA-W5-AA2U-01A-11D-A417-09 MAP1B 5 71491937 71491937 + Nonsense_Mutation SNP G T g.chr5:71491937G>T c.2755G>T p.G919* TCGA-ZH-A8Y4-01A-11D-A417-09 MAP2K1 15 66729174 66729174 + Missense_Mutation SNP G C g.chr15:66729174G>C c.382G>C p.G128R TCGA-W5-AA2R-01A-11D-A417-09 MAP3K1 5 56178366 56178366 + Silent SNP C T g.chr5:56178366C>T c.3339C>T p.F1113F TCGA-3X-AAV9-01A-72D-A417-09 MAP3K11 11 65373425 65373425 + Missense_Mutation SNP C G g.chr11:65373425C>G c.960G>C p.Q320H TCGA-3X-AAV9-01A-72D-A417-09 MAP3K13 3 185184616 185184616 + Missense_Mutation SNP G A g.chr3:185184616G>A c.1508G>A p.R503H TCGA-4G-AAZO-01A-12D-A417-09 MAP3K14 17 43351847 43351847 + RNA SNP G T g.chr17:43351847G>T TCGA-ZH-A8Y2-01A-11D-A417-09 MAP3K15 23 19378938 19378938 + Frame_Shift_Del DEL A - g.chrX:19378938delA c.3871delT p.C1291fs TCGA-ZH-A8Y6-01A-11D-A417-09 MAP3K2 2 128087578 128087578 + Missense_Mutation SNP T G g.chr2:128087578T>G c.385A>C p.N129H TCGA-W5-AA39-01A-11D-A417-09 MAP3K3 17 61767703 61767703 + Silent SNP C T g.chr17:61767703C>T c.1143C>T p.D381D TCGA-W6-AA0S-01A-11D-A417-09 MAP3K8 10 30747044 30747044 + Missense_Mutation SNP G T g.chr10:30747044G>T c.905G>T p.R302M TCGA-4G-AAZO-01A-12D-A417-09 MAP4K3 2 39564669 39564669 + Missense_Mutation SNP G T g.chr2:39564669G>T c.364C>A p.Q122K TCGA-W5-AA2G-01A-11D-A417-09 MAP4K4 2 102490597 102490597 + Silent SNP C A g.chr2:102490597C>A c.2689C>A p.R897R TCGA-W5-AA30-01A-31D-A417-09 MAP4K4 2 102480371 102480371 + Intron SNP C T g.chr2:102480371C>T TCGA-WD-A7RX-01A-12D-A417-09 MAP7D2 23 20030593 20030593 + Frame_Shift_Del DEL G - g.chrX:20030593delG c.1823delC p.T608fs TCGA-3X-AAVC-01A-21D-A417-09 MAP9 4 156281387 156281387 + Missense_Mutation SNP G T g.chr4:156281387G>T c.983C>A p.T328K TCGA-W5-AA2U-01A-11D-A417-09 MAPK12 22 50694524 50694524 + Nonsense_Mutation SNP G T g.chr22:50694524G>T c.609C>A p.Y203* TCGA-W5-AA2H-01A-31D-A417-09 MAPKAPK2 1 206904533 206904533 + Missense_Mutation SNP C A g.chr1:206904533C>A c.818C>A p.P273Q TCGA-W5-AA2Q-01A-11D-A417-09 MAPKAPK2 1 206858675 206858675 + Missense_Mutation SNP A C g.chr1:206858675A>C c.101A>C p.Q34P TCGA-ZH-A8Y5-01A-11D-A417-09 MAPKBP1 15 42113096 42113096 + Missense_Mutation SNP C T g.chr15:42113096C>T c.2566C>T p.R856C TCGA-ZH-A8Y5-01A-11D-A417-09 MARCH1 4 164466875 164466875 + Silent SNP G T g.chr4:164466875G>T c.444C>A p.T148T TCGA-W5-AA2T-01A-12D-A417-09 MARCH1 4 164449941 164449941 + Missense_Mutation SNP G T g.chr4:164449941G>T c.829C>A p.P277T TCGA-W5-AA2Z-01A-11D-A417-09 MARCH2 19 8486775 8486775 + Silent SNP C T g.chr19:8486775C>T c.51C>T p.S17S TCGA-W5-AA39-01A-11D-A417-09 MARCH6 5 10411446 10411446 + Splice_Site SNP G T g.chr5:10411446G>T c.1693G>T p.D565Y TCGA-W5-AA2O-01A-11D-A417-09 MARCH6 5 10402698 10402698 + Nonsense_Mutation SNP G A g.chr5:10402698G>A c.1176G>A p.W392* TCGA-W5-AA39-01A-11D-A417-09 MARCH6 5 10433774 10433774 + Missense_Mutation SNP C T g.chr5:10433774C>T c.2711C>T p.P904L TCGA-W5-AA39-01A-11D-A417-09 MARCH6 5 10415711 10415711 + Missense_Mutation SNP C T g.chr5:10415711C>T c.2078C>T p.T693M TCGA-ZH-A8Y5-01A-11D-A417-09 MARCH8 10 46028613 46028613 + Missense_Mutation SNP G A g.chr10:46028613G>A c.47C>T p.A16V TCGA-W5-AA2U-01A-11D-A417-09 MARCO 2 119739044 119739044 + Missense_Mutation SNP C A g.chr2:119739044C>A c.826C>A p.Q276K TCGA-W5-AA2X-01A-11D-A417-09 MARK4 19 45790748 45790748 + Silent SNP G T g.chr19:45790748G>T c.1320G>T p.T440T TCGA-3X-AAV9-01A-72D-A417-09 MARK4 19 45774944 45774944 + Missense_Mutation SNP C T g.chr19:45774944C>T c.764C>T p.P255L TCGA-YR-A95A-01A-12D-A417-09 MARVELD3 16 71668439 71668439 + Missense_Mutation SNP C G g.chr16:71668439C>G c.939C>G p.I313M TCGA-W5-AA39-01A-11D-A417-09 MAST1 19 12975632 12975632 + Missense_Mutation SNP G A g.chr19:12975632G>A c.1376G>A p.C459Y TCGA-W5-AA39-01A-11D-A417-09 MAST3 19 18234175 18234175 + Missense_Mutation SNP G A g.chr19:18234175G>A c.461G>A p.R154H TCGA-ZH-A8Y1-01A-11D-A417-09 MAST4 5 66391445 66391445 + Missense_Mutation SNP C G g.chr5:66391445C>G c.854C>G p.S285W TCGA-W5-AA2U-01A-11D-A417-09 MAST4 5 66427645 66427645 + Silent SNP A G g.chr5:66427645A>G c.1959A>G p.G653G TCGA-W5-AA2X-01A-11D-A417-09 MATK 19 3778217 3778217 + Silent SNP G A g.chr19:3778217G>A c.1488C>T p.A496A TCGA-ZH-A8Y4-01A-11D-A417-09 MATN4 20 43932932 43932932 + Silent SNP G T g.chr20:43932932G>T c.579C>A p.V193V TCGA-W5-AA2H-01A-31D-A417-09 MAZ 16 29821450 29821450 + Silent SNP A G g.chr16:29821450A>G c.1332A>G p.A444A TCGA-3X-AAVA-01A-11D-A417-09 MBD5 2 149247273 149247273 + Missense_Mutation SNP G T g.chr2:149247273G>T c.3373G>T p.A1125S TCGA-ZH-A8Y1-01A-11D-A417-09 MBNL3 23 131526199 131526199 + Missense_Mutation SNP G T g.chrX:131526199G>T c.506C>A p.P169Q TCGA-ZH-A8Y2-01A-11D-A417-09 MC3R 20 54824818 54824818 + Missense_Mutation SNP C T g.chr20:54824818C>T c.919C>T p.R307C TCGA-W5-AA2T-01A-12D-A417-09 MCAM 11 119181068 119181068 + Silent SNP C T g.chr11:119181068C>T c.1902G>A p.P634P TCGA-3X-AAVB-01A-31D-A417-09 MCCC1 3 182756844 182756844 + Silent SNP T A g.chr3:182756844T>A c.1347A>T p.T449T TCGA-W5-AA39-01A-11D-A417-09 MCEE 2 71351654 71351654 + Missense_Mutation SNP T G g.chr2:71351654T>G c.60A>C p.Q20H TCGA-W5-AA39-01A-11D-A417-09 MCM3AP 21 47690365 47690365 + Missense_Mutation SNP G T g.chr21:47690365G>T c.2578C>A p.Q860K TCGA-ZU-A8S4-01A-11D-A417-09 MCM8 20 5948523 5948523 + Missense_Mutation SNP G T g.chr20:5948523G>T c.1075G>T p.A359S TCGA-W5-AA2Z-01A-11D-A417-09 MCM8 20 5974195 5974195 + Nonsense_Mutation SNP G T g.chr20:5974195G>T c.2284G>T p.E762* TCGA-ZH-A8Y6-01A-11D-A417-09 MCOLN1 19 7591678 7591678 + Missense_Mutation SNP G C g.chr19:7591678G>C c.437G>C p.R146P TCGA-W5-AA39-01A-11D-A417-09 MDM2 12 69229765 69229765 + Splice_Site SNP G T g.chr12:69229765G>T TCGA-YR-A95A-01A-12D-A417-09 MDN1 6 90472214 90472214 + Missense_Mutation SNP G T g.chr6:90472214G>T c.2180C>A p.P727H TCGA-W5-AA2X-01A-11D-A417-09 MDN1 6 90449961 90449961 + Missense_Mutation SNP T G g.chr6:90449961T>G c.4585A>C p.K1529Q TCGA-W5-AA39-01A-11D-A417-09 MDN1 6 90362819 90362819 + Missense_Mutation SNP G T g.chr6:90362819G>T c.15717C>A p.D5239E TCGA-ZH-A8Y4-01A-11D-A417-09 ME1 6 84061833 84061833 + Silent SNP G T g.chr6:84061833G>T c.388C>A p.R130R TCGA-4G-AAZT-01A-11D-A417-09 ME1 6 83937111 83937111 + Missense_Mutation SNP C G g.chr6:83937111C>G c.1218G>C p.L406F TCGA-ZH-A8Y6-01A-11D-A417-09 ME3 11 86157510 86157510 + Missense_Mutation SNP C A g.chr11:86157510C>A c.1400G>T p.S467I TCGA-W5-AA2O-01A-11D-A417-09 MED1 17 37565938 37565938 + Missense_Mutation SNP C T g.chr17:37565938C>T c.2536G>A p.A846T TCGA-W5-AA34-01A-11D-A417-09 MED12 23 70349589 70349589 + Nonsense_Mutation SNP G T g.chrX:70349589G>T c.3751G>T p.E1251* TCGA-W5-AA2H-01A-31D-A417-09 MED12L 3 150876586 150876586 + Splice_Site SNP G T g.chr3:150876586G>T c.837G>T p.Q279H TCGA-W5-AA2O-01A-11D-A417-09 MED13 17 60043913 60043913 + Missense_Mutation SNP C T g.chr17:60043913C>T c.4291G>A p.V1431I TCGA-4G-AAZO-01A-12D-A417-09 MED13L 12 116422008 116422008 + Missense_Mutation SNP G A g.chr12:116422008G>A c.4508C>T p.A1503V TCGA-W5-AA2G-01A-11D-A417-09 MED13L 12 116399131 116399131 + Nonsense_Mutation SNP G T g.chr12:116399131G>T c.6573C>A p.C2191* TCGA-W5-AA2T-01A-12D-A417-09 MED13L 12 116413011 116413011 + Missense_Mutation SNP C A g.chr12:116413011C>A c.5696G>T p.G1899V TCGA-WD-A7RX-01A-12D-A417-09 MED16 19 875282 875282 + Missense_Mutation SNP T C g.chr19:875282T>C c.1733A>G p.D578G TCGA-3X-AAVE-01A-11D-A417-09 MED19 11 57472100 57472100 + Silent SNP G T g.chr11:57472100G>T c.579C>A p.P193P TCGA-W5-AA2T-01A-12D-A417-09 MED27 9 134889833 134889833 + Missense_Mutation SNP C T g.chr9:134889833C>T c.370G>A p.A124T TCGA-ZD-A8I3-01A-11D-A417-09 MED28 4 17621579 17621579 + Missense_Mutation SNP A G g.chr4:17621579A>G c.215A>G p.E72G TCGA-W5-AA39-01A-11D-A417-09 MEF2D 1 156450644 156450644 + Silent SNP C T g.chr1:156450644C>T c.378G>A p.G126G TCGA-W5-AA39-01A-11D-A417-09 MEGF6 1 3440803 3440803 + Missense_Mutation SNP G T g.chr1:3440803G>T c.489C>A p.D163E TCGA-W5-AA2Q-01A-11D-A417-09 MEI1 22 42191438 42191438 + Silent SNP T C g.chr22:42191438T>C c.3558T>C p.S1186S TCGA-3X-AAVE-01A-11D-A417-09 MEIS2 15 37329152 37329152 + Missense_Mutation SNP A C g.chr15:37329152A>C c.763T>G p.L255V TCGA-W5-AA39-01A-11D-A417-09 MEPE 4 88767342 88767342 + Missense_Mutation SNP G A g.chr4:88767342G>A c.1322G>A p.R441H TCGA-4G-AAZO-01A-12D-A417-09 METAP1 4 99916973 99916973 + Silent SNP C A g.chr4:99916973C>A c.69C>A p.P23P TCGA-4G-AAZO-01A-12D-A417-09 METTL8 2 172188372 172188372 + Missense_Mutation SNP G T g.chr2:172188372G>T c.662C>A p.S221Y TCGA-W5-AA2R-01A-11D-A417-09 MEX3C 18 48703410 48703410 + 5'UTR SNP C T g.chr18:48703410C>T TCGA-W5-AA39-01A-11D-A417-09 MFAP5 12 8814663 8814663 + Missense_Mutation SNP G T g.chr12:8814663G>T c.38C>A p.A13D TCGA-W5-AA33-01A-11D-A417-09 MFN1 3 179082161 179082161 + Missense_Mutation SNP G T g.chr3:179082161G>T c.613G>T p.V205F TCGA-W5-AA2Q-01A-11D-A417-09 MFSD1 3 158538046 158538046 + Missense_Mutation SNP C T g.chr3:158538046C>T c.794C>T p.P265L TCGA-W5-AA33-01A-11D-A417-09 MFSD2A 1 40431616 40431616 + Missense_Mutation SNP A G g.chr1:40431616A>G c.683A>G p.D228G TCGA-W5-AA39-01A-11D-A417-09 MGA 15 41961679 41961679 + Missense_Mutation SNP C A g.chr15:41961679C>A c.587C>A p.S196Y TCGA-3X-AAVE-01A-11D-A417-09 MGA 15 42028642 42028642 + Missense_Mutation SNP C A g.chr15:42028642C>A c.4180C>A p.R1394S TCGA-4G-AAZO-01A-12D-A417-09 MGA 15 42046766 42046766 + Splice_Site SNP G A g.chr15:42046766G>A TCGA-W5-AA31-01A-11D-A417-09 MGAM 7 141754596 141754596 + Missense_Mutation SNP C A g.chr7:141754596C>A c.3202C>A p.L1068M TCGA-4G-AAZO-01A-12D-A417-09 MGAM 7 141719015 141719015 + Missense_Mutation SNP G T g.chr7:141719015G>T c.344G>T p.R115L TCGA-W5-AA38-01A-11D-A417-09 MGAM 7 141794453 141794453 + Splice_Site SNP A T g.chr7:141794453A>T c.4652A>T p.Y1551F TCGA-ZH-A8Y2-01A-11D-A417-09 MGAT1 5 180219933 180219933 + Silent SNP G T g.chr5:180219933G>T c.39C>A p.G13G TCGA-W5-AA2O-01A-11D-A417-09 MGAT4C 12 86373133 86373133 + Silent SNP C T g.chr12:86373133C>T c.1371G>A p.R457R TCGA-W5-AA34-01A-11D-A417-09 MGAT5B 17 74936851 74936852 + Missense_Mutation DNP GC TT g.chr17:74936851_74936852GC>TT c.1769_1770GC>TT p.G590V TCGA-W5-AA39-01A-11D-A417-09 MGC26647 7 88424178 88424178 + Missense_Mutation SNP G T g.chr7:88424178G>T c.79C>A p.R27S TCGA-W5-AA31-01A-11D-A417-09 MGC87042 7 22533072 22533072 + Missense_Mutation SNP C A g.chr7:22533072C>A c.411G>T p.K137N TCGA-W5-AA2W-01A-11D-A417-09 MGEA5 10 103577755 103577755 + Missense_Mutation SNP T C g.chr10:103577755T>C c.25A>G p.T9A TCGA-W5-AA39-01A-11D-A417-09 MGRN1 16 4733264 4733264 + Nonsense_Mutation SNP C T g.chr16:4733264C>T c.1522C>T p.Q508* TCGA-W5-AA2Q-01A-11D-A417-09 MGST1 12 16516728 16516728 + Splice_Site SNP G T g.chr12:16516728G>T TCGA-3X-AAV9-01A-72D-A417-09 MIA 19 41281791 41281791 + Splice_Site SNP G T g.chr19:41281791G>T TCGA-W5-AA30-01A-31D-A417-09 MIA2 14 39703322 39703322 + Missense_Mutation SNP G A g.chr14:39703322G>A c.4G>A p.A2T TCGA-4G-AAZT-01A-11D-A417-09 MIA3 1 222825333 222825333 + Missense_Mutation SNP G T g.chr1:222825333G>T c.3924G>T p.K1308N TCGA-W5-AA2H-01A-31D-A417-09 MICAL1 6 109769503 109769503 + Silent SNP C T g.chr6:109769503C>T c.1758G>A p.V586V TCGA-W5-AA2Q-01A-11D-A417-09 MICAL2 11 12244189 12244189 + Missense_Mutation SNP C A g.chr11:12244189C>A c.1348C>A p.Q450K TCGA-3X-AAVA-01A-11D-A417-09 MICAL3 22 18379580 18379580 + Silent SNP A C g.chr22:18379580A>C c.1116T>G p.T372T TCGA-W5-AA39-01A-11D-A417-09 MICAL3 22 18370200 18370200 + Splice_Site SNP G T g.chr22:18370200G>T c.1893C>A p.D631E TCGA-ZH-A8Y2-01A-11D-A417-09 MICALL1 22 38323501 38323501 + Missense_Mutation SNP G C g.chr22:38323501G>C c.1549G>C p.E517Q TCGA-3X-AAV9-01A-72D-A417-09 MID1 23 10422989 10422989 + Missense_Mutation SNP C A g.chrX:10422989C>A c.1576G>T p.G526W TCGA-4G-AAZO-01A-12D-A417-09 MIER1 1 67411833 67411833 + Splice_Site SNP G T g.chr1:67411833G>T c.35G>T p.G12V TCGA-3X-AAVB-01A-31D-A417-09 MINA 3 97668828 97668828 + Missense_Mutation SNP C A g.chr3:97668828C>A c.920G>T p.R307L TCGA-W5-AA30-01A-31D-A417-09 MINK1 17 4799740 4799740 + IGR SNP C T g.chr17:4799740C>T TCGA-WD-A7RX-01A-12D-A417-09 MIOS 7 7625410 7625410 + Nonsense_Mutation SNP G T g.chr7:7625410G>T c.1792G>T p.E598* TCGA-ZU-A8S4-01A-11D-A417-09 MIPOL1 14 37736219 37736219 + Missense_Mutation SNP G T g.chr14:37736219G>T c.96G>T p.M32I TCGA-W5-AA2Q-01A-11D-A417-09 MKI67 10 129913724 129913724 + Missense_Mutation SNP G T g.chr10:129913724G>T c.948C>A p.N316K TCGA-ZH-A8Y1-01A-11D-A417-09 MKS1 17 56293485 56293485 + Silent SNP G T g.chr17:56293485G>T c.381C>A p.T127T TCGA-W5-AA2O-01A-11D-A417-09 MLF1 3 158315944 158315944 + Nonsense_Mutation SNP G T g.chr3:158315944G>T c.355G>T p.E119* TCGA-W5-AA39-01A-11D-A417-09 MLF1IP 4 185638302 185638302 + Silent SNP A T g.chr4:185638302A>T c.369T>A p.I123I TCGA-3X-AAV9-01A-72D-A417-09 MLH1 3 37067150 37067150 + Missense_Mutation SNP G T g.chr3:37067150G>T c.1061G>T p.G354V TCGA-3X-AAVC-01A-21D-A417-09 MLL 11 118365076 118365076 + Missense_Mutation SNP A T g.chr11:118365076A>T c.5243A>T p.K1748I TCGA-W5-AA39-01A-11D-A417-09 MLL 11 118344932 118344932 + Missense_Mutation SNP G T g.chr11:118344932G>T c.3058G>T p.D1020Y TCGA-ZH-A8Y5-01A-11D-A417-09 MLL2 12 49421075 49421075 + Missense_Mutation SNP G A g.chr12:49421075G>A c.14674C>T p.H4892Y TCGA-4G-AAZO-01A-12D-A417-09 MLL2 12 49426567 49426632 + In_Frame_Del DEL TGCTGCTGTTGCTGCTGCTGTTGAAACTGCTGCTGTTGTTGTTGCTGTTGCTGTTGTAGCTGCTGT - g.chr12:49426567_49426632delTGCTGCTGTTGCTGCTGCTGTTGAAACTGCTGCTGTTGTTGTTGCTGTTGCTGTTGTAGCTGCTGT c.11856_11921delACAGCAGCTACAACAGCAACAGCAACAACAACAGCAGCAGTTTCAACAGCAGCAGCAACAGCAGCA p.3952_3974QQQLQQQQQQQQQQFQQQQQQQQ>Q TCGA-W5-AA2O-01A-11D-A417-09 MLL2 12 49426576 49426578 + In_Frame_Del DEL TGC - g.chr12:49426576_49426578delTGC c.11910_11912delGCA p.3970_3971QQ>Q TCGA-W5-AA2O-01A-11D-A417-09 MLL2 12 49426590 49426592 + In_Frame_Del DEL AAA - g.chr12:49426590_49426592delAAA c.11896_11898delTTT p.F3966del TCGA-W5-AA2O-01A-11D-A417-09 MLL2 12 49420526 49420526 + Missense_Mutation SNP C T g.chr12:49420526C>T c.15223G>A p.G5075R TCGA-W5-AA38-01A-11D-A417-09 MLL3 7 151891214 151891214 + Splice_Site SNP C G g.chr7:151891214C>G TCGA-3X-AAVB-01A-31D-A417-09 MLL3 7 151921114 151921114 + Nonsense_Mutation SNP A T g.chr7:151921114A>T c.3309T>A p.C1103* TCGA-W5-AA2G-01A-11D-A417-09 MLL3 7 151921114 151921114 + Nonsense_Mutation SNP A T g.chr7:151921114A>T c.3309T>A p.C1103* TCGA-W5-AA2I-01A-32D-A417-09 MLL3 7 151945305 151945305 + Missense_Mutation SNP G C g.chr7:151945305G>C c.2214C>G p.D738E TCGA-W5-AA2Z-01A-11D-A417-09 MLL3 7 151921114 151921114 + Nonsense_Mutation SNP A T g.chr7:151921114A>T c.3309T>A p.C1103* TCGA-W5-AA30-01A-31D-A417-09 MLL3 7 151962255 151962255 + Missense_Mutation SNP C T g.chr7:151962255C>T c.1052G>A p.G351E TCGA-W6-AA0S-01A-11D-A417-09 MLL3 7 151921114 151921114 + Nonsense_Mutation SNP A T g.chr7:151921114A>T c.3309T>A p.C1103* TCGA-ZH-A8Y2-01A-11D-A417-09 MLL4 19 36213993 36213993 + Missense_Mutation SNP G T g.chr19:36213993G>T c.2819G>T p.G940V TCGA-W5-AA2X-01A-11D-A417-09 MLL5 7 104719314 104719314 + Silent SNP C T g.chr7:104719314C>T c.1152C>T p.F384F TCGA-ZH-A8Y6-01A-11D-A417-09 MLLT3 9 20414313 20414313 + Silent SNP G A g.chr9:20414313G>A c.531C>T p.S177S TCGA-3X-AAVC-01A-21D-A417-09 MLLT4 6 168289932 168289932 + Missense_Mutation SNP A G g.chr6:168289932A>G c.935A>G p.K312R TCGA-3X-AAVC-01A-21D-A417-09 MLLT4 6 168307886 168307886 + Silent SNP T C g.chr6:168307886T>C c.1686T>C p.S562S TCGA-W5-AA39-01A-11D-A417-09 MLLT4 6 168348587 168348587 + Missense_Mutation SNP A C g.chr6:168348587A>C c.3587A>C p.K1196T TCGA-W5-AA39-01A-11D-A417-09 MLXIPL 7 73030462 73030463 + Frame_Shift_Ins INS - T g.chr7:73030462_73030463insT c.338_339insA p.K113fs TCGA-W5-AA2G-01A-11D-A417-09 MMACHC 1 45966021 45966021 + Missense_Mutation SNP C T g.chr1:45966021C>T c.17C>T p.A6V TCGA-4G-AAZT-01A-11D-A417-09 MME 3 154836538 154836538 + Missense_Mutation SNP G A g.chr3:154836538G>A c.658G>A p.D220N TCGA-W5-AA2I-01A-32D-A417-09 MME 3 154858051 154858051 + Missense_Mutation SNP A C g.chr3:154858051A>C c.927A>C p.Q309H TCGA-W5-AA39-01A-11D-A417-09 MMEL1 1 2540788 2540788 + Silent SNP G A g.chr1:2540788G>A c.525C>T p.C175C TCGA-W5-AA2R-01A-11D-A417-09 MMP16 8 89053972 89053972 + Missense_Mutation SNP A T g.chr8:89053972A>T c.1541T>A p.I514K TCGA-3X-AAVC-01A-21D-A417-09 MMP20 11 102465448 102465448 + Missense_Mutation SNP G A g.chr11:102465448G>A c.994C>T p.R332W TCGA-W5-AA34-01A-11D-A417-09 MMP8 11 102592253 102592253 + Silent SNP G A g.chr11:102592253G>A c.501C>T p.H167H TCGA-4G-AAZO-01A-12D-A417-09 MMP8 11 102593358 102593358 + Missense_Mutation SNP G T g.chr11:102593358G>T c.149C>A p.S50Y TCGA-W5-AA2Q-01A-11D-A417-09 MMP9 20 44643002 44643008 + Splice_Site DEL GCCCGCA - g.chr20:44643002_44643008delGCCCGCA TCGA-W5-AA39-01A-11D-A417-09 MMRN1 4 90816624 90816624 + Missense_Mutation SNP G A g.chr4:90816624G>A c.502G>A p.V168I TCGA-4G-AAZO-01A-12D-A417-09 MMRN2 10 88703690 88703690 + Missense_Mutation SNP G A g.chr10:88703690G>A c.851C>T p.A284V TCGA-W5-AA39-01A-11D-A417-09 MOCOS 18 33767560 33767560 + Missense_Mutation SNP G A g.chr18:33767560G>A c.58G>A p.D20N TCGA-W5-AA38-01A-11D-A417-09 MOCOS 18 33831179 33831179 + Silent SNP C T g.chr18:33831179C>T c.2097C>T p.G699G TCGA-ZH-A8Y1-01A-11D-A417-09 MON1A 3 49967045 49967045 + Frame_Shift_Del DEL T - g.chr3:49967045delT c.275delA p.N92fs TCGA-W5-AA39-01A-11D-A417-09 MORC3 21 37747505 37747505 + Missense_Mutation SNP G T g.chr21:37747505G>T c.2731G>T p.D911Y TCGA-W5-AA2R-01A-11D-A417-09 MOSPD2 23 14936834 14936834 + Missense_Mutation SNP C A g.chrX:14936834C>A c.1349C>A p.P450Q TCGA-ZD-A8I3-01A-11D-A417-09 MOV10 1 113242318 113242320 + In_Frame_Del DEL AGA - g.chr1:113242318_113242320delAGA c.2595_2597delAGA p.E867del TCGA-3X-AAVA-01A-11D-A417-09 MOV10 1 113241378 113241378 + Missense_Mutation SNP G T g.chr1:113241378G>T c.2550G>T p.E850D TCGA-3X-AAVC-01A-21D-A417-09 MOXD1 6 132618355 132618355 + Missense_Mutation SNP G C g.chr6:132618355G>C c.1779C>G p.F593L TCGA-W5-AA2Q-01A-11D-A417-09 MOXD1 6 132645229 132645229 + Silent SNP T A g.chr6:132645229T>A c.954A>T p.I318I TCGA-W5-AA2T-01A-12D-A417-09 MPDZ 9 13176150 13176150 + Silent SNP G T g.chr9:13176150G>T c.2916C>A p.P972P TCGA-4G-AAZT-01A-11D-A417-09 MPDZ 9 13168539 13168539 + Missense_Mutation SNP T C g.chr9:13168539T>C c.3080A>G p.D1027G TCGA-W5-AA33-01A-11D-A417-09 MPDZ 9 13175817 13175837 + In_Frame_Del DEL GCATGACACACTCAGCATTAC - g.chr9:13175817_13175837delGCATGACACACTCAGCATTAC c.2969_2989delGTAATGCTGAGTGTGTCATGC p.990_997CNAECVML>F TCGA-W5-AA39-01A-11D-A417-09 MPDZ 9 13176276 13176276 + Silent SNP A G g.chr9:13176276A>G c.2790T>C p.T930T TCGA-W5-AA39-01A-11D-A417-09 MPDZ 9 13190124 13190124 + Missense_Mutation SNP A C g.chr9:13190124A>C c.2143T>G p.L715V TCGA-W5-AA39-01A-11D-A417-09 MPDZ 9 13190162 13190162 + Missense_Mutation SNP T C g.chr9:13190162T>C c.2105A>G p.E702G TCGA-W5-AA39-01A-11D-A417-09 MPDZ 9 13222402 13222402 + Missense_Mutation SNP C T g.chr9:13222402C>T c.577G>A p.G193R TCGA-W6-AA0S-01A-11D-A417-09 MPHOSPH8 13 20233249 20233249 + Missense_Mutation SNP C T g.chr13:20233249C>T c.1691C>T p.A564V TCGA-W5-AA38-01A-11D-A417-09 MPP5 14 67787063 67787063 + Missense_Mutation SNP C T g.chr14:67787063C>T c.1486C>T p.R496C TCGA-W5-AA2X-01A-11D-A417-09 MPP7 10 28413008 28413008 + Silent SNP G A g.chr10:28413008G>A c.567C>T p.N189N TCGA-W5-AA38-01A-11D-A417-09 MPPED1 22 43870630 43870630 + Missense_Mutation SNP G A g.chr22:43870630G>A c.421G>A p.E141K TCGA-YR-A95A-01A-12D-A417-09 MPRIP 17 17050634 17050634 + Splice_Site SNP G T g.chr17:17050634G>T c.1208G>T p.W403L TCGA-W5-AA39-01A-11D-A417-09 MPZL2 11 118133264 118133264 + Missense_Mutation SNP G T g.chr11:118133264G>T c.325C>A p.L109I TCGA-ZH-A8Y8-01A-51D-A417-09 MPZL3 11 118106178 118106178 + Missense_Mutation SNP C T g.chr11:118106178C>T c.578G>A p.R193K TCGA-W5-AA2W-01A-11D-A417-09 MRAP2 6 84772626 84772626 + Nonsense_Mutation SNP G T g.chr6:84772626G>T c.142G>T p.G48* TCGA-W5-AA31-01A-11D-A417-09 MREG 2 216809713 216809713 + Missense_Mutation SNP A C g.chr2:216809713A>C c.518T>G p.L173R TCGA-W5-AA39-01A-11D-A417-09 MRGPRE 11 3249154 3249154 + Silent SNP G A g.chr11:3249154G>A c.876C>T p.D292D TCGA-ZH-A8Y4-01A-11D-A417-09 MRGPRX1 11 18955600 18955600 + Silent SNP C T g.chr11:18955600C>T c.732G>A p.V244V TCGA-W5-AA2O-01A-11D-A417-09 MRPL11 11 66203493 66203493 + Missense_Mutation SNP T G g.chr11:66203493T>G c.564A>C p.E188D TCGA-W5-AA39-01A-11D-A417-09 MRPL18 6 160218528 160218528 + Missense_Mutation SNP C A g.chr6:160218528C>A c.449C>A p.P150Q TCGA-4G-AAZO-01A-12D-A417-09 MRPL2 6 43022170 43022170 + Missense_Mutation SNP T C g.chr6:43022170T>C c.760A>G p.K254E TCGA-W5-AA39-01A-11D-A417-09 MRPL22 5 154336753 154336753 + Missense_Mutation SNP G T g.chr5:154336753G>T c.320G>T p.G107V TCGA-W5-AA2H-01A-31D-A417-09 MRPL35 2 86437740 86437740 + Silent SNP C T g.chr2:86437740C>T c.516C>T p.Y172Y TCGA-W5-AA39-01A-11D-A417-09 MRPL44 2 224828637 224828637 + Missense_Mutation SNP T G g.chr2:224828637T>G c.813T>G p.F271L TCGA-W5-AA39-01A-11D-A417-09 MRPL48 11 73536794 73536794 + Missense_Mutation SNP C T g.chr11:73536794C>T c.154C>T p.P52S TCGA-W5-AA2G-01A-11D-A417-09 MRPS16 10 75011619 75011619 + Missense_Mutation SNP T G g.chr10:75011619T>G c.176A>C p.N59T TCGA-W5-AA39-01A-11D-A417-09 MRPS27 5 71519605 71519605 + Missense_Mutation SNP C T g.chr5:71519605C>T c.910G>A p.D304N TCGA-W5-AA2T-01A-12D-A417-09 MRPS35 12 27863845 27863845 + Silent SNP C T g.chr12:27863845C>T c.69C>T p.S23S TCGA-4G-AAZT-01A-11D-A417-09 MRTO4 1 19584345 19584345 + Silent SNP A G g.chr1:19584345A>G c.360A>G p.T120T TCGA-W5-AA39-01A-11D-A417-09 MRVI1 11 10597943 10597943 + Missense_Mutation SNP G A g.chr11:10597943G>A c.2594C>T p.S865L TCGA-YR-A95A-01A-12D-A417-09 MS4A10 11 60561564 60561564 + Silent SNP C T g.chr11:60561564C>T c.480C>T p.Y160Y TCGA-W5-AA2X-01A-11D-A417-09 MS4A7 11 60152623 60152623 + Silent SNP C A g.chr11:60152623C>A c.210C>A p.P70P TCGA-4G-AAZO-01A-12D-A417-09 MSN 23 64956743 64956743 + Missense_Mutation SNP A G g.chrX:64956743A>G c.1046A>G p.E349G TCGA-3X-AAVC-01A-21D-A417-09 MSN 23 64958961 64958961 + Missense_Mutation SNP G A g.chrX:64958961G>A c.1474G>A p.A492T TCGA-3X-AAVC-01A-21D-A417-09 MSN 23 64949502 64949502 + Missense_Mutation SNP C A g.chrX:64949502C>A c.395C>A p.S132Y TCGA-ZH-A8Y1-01A-11D-A417-09 MSRB2 10 23393156 23393156 + Missense_Mutation SNP G C g.chr10:23393156G>C c.202G>C p.E68Q TCGA-W5-AA39-01A-11D-A417-09 MSRB3 12 65672596 65672601 + In_Frame_Del DEL CCTCTG - g.chr12:65672596_65672601delCCTCTG c.48_53delCCTCTG p.LC21del TCGA-W5-AA39-01A-11D-A417-09 MST1 3 49725034 49725034 + 5'Flank SNP T A g.chr3:49725034T>A TCGA-W5-AA2Z-01A-11D-A417-09 MST1 3 49725198 49725198 + 5'Flank SNP G A g.chr3:49725198G>A TCGA-ZH-A8Y6-01A-11D-A417-09 MTBP 8 121519076 121519076 + Missense_Mutation SNP C T g.chr8:121519076C>T c.1858C>T p.L620F TCGA-W5-AA39-01A-11D-A417-09 MTERFD3 12 107371419 107371420 + Frame_Shift_Del DEL CT - g.chr12:107371419_107371420delCT c.1073_1074delAG p.E358fs TCGA-W6-AA0S-01A-11D-A417-09 MTFMT 15 65295439 65295439 + Missense_Mutation SNP C A g.chr15:65295439C>A c.1131G>T p.K377N TCGA-3X-AAVA-01A-11D-A417-09 MTFMT 15 65312553 65312553 + Missense_Mutation SNP T C g.chr15:65312553T>C c.703A>G p.M235V TCGA-W6-AA0S-01A-11D-A417-09 MTHFD2 2 74435800 74435800 + Missense_Mutation SNP A T g.chr2:74435800A>T c.514A>T p.M172L TCGA-3X-AAVA-01A-11D-A417-09 MTM1 23 149818340 149818340 + Missense_Mutation SNP G T g.chrX:149818340G>T c.1019G>T p.S340I TCGA-W5-AA34-01A-11D-A417-09 MTM1 23 149814336 149814336 + Missense_Mutation SNP G A g.chrX:149814336G>A c.859G>A p.A287T TCGA-W5-AA38-01A-11D-A417-09 MTMR12 5 32274182 32274182 + Missense_Mutation SNP C A g.chr5:32274182C>A c.189G>T p.Q63H TCGA-4G-AAZO-01A-12D-A417-09 MTO1 6 74176311 74176311 + Missense_Mutation SNP G T g.chr6:74176311G>T c.517G>T p.V173F TCGA-W6-AA0S-01A-11D-A417-09 MTR 1 237049616 237049616 + Missense_Mutation SNP C G g.chr1:237049616C>G c.2800C>G p.Q934E TCGA-ZH-A8Y6-01A-11D-A417-09 MTRR 5 7885967 7885967 + Splice_Site SNP G T g.chr5:7885967G>T c.1138G>T p.G380* TCGA-W5-AA2X-01A-11D-A417-09 MTSS1 8 125568538 125568538 + Missense_Mutation SNP C T g.chr8:125568538C>T c.1339G>A p.G447S TCGA-W5-AA2O-01A-11D-A417-09 MTUS1 8 17510965 17510965 + Missense_Mutation SNP T C g.chr8:17510965T>C c.3257A>G p.D1086G TCGA-W5-AA39-01A-11D-A417-09 MTUS1 8 17513428 17513428 + Missense_Mutation SNP G T g.chr8:17513428G>T c.3052C>A p.L1018I TCGA-ZU-A8S4-01A-11D-A417-09 MTUS2 13 29933476 29933476 + Missense_Mutation SNP C T g.chr13:29933476C>T c.3013C>T p.R1005W TCGA-4G-AAZO-01A-12D-A417-09 MTUS2 13 29599613 29599613 + Missense_Mutation SNP C G g.chr13:29599613C>G c.808C>G p.Q270E TCGA-W5-AA34-01A-11D-A417-09 MUC16 19 9070320 9070320 + Missense_Mutation SNP G C g.chr19:9070320G>C c.17126C>G p.A5709G TCGA-3X-AAVA-01A-11D-A417-09 MUC16 19 9089654 9089654 + Missense_Mutation SNP T C g.chr19:9089654T>C c.2161A>G p.S721G TCGA-3X-AAVA-01A-11D-A417-09 MUC16 19 9072960 9072960 + Missense_Mutation SNP T C g.chr19:9072960T>C c.14486A>G p.N4829S TCGA-W5-AA2O-01A-11D-A417-09 MUC16 19 9068625 9068625 + Frame_Shift_Del DEL C - g.chr19:9068625delC c.18821delG p.R6274fs TCGA-W5-AA2Q-01A-11D-A417-09 MUC16 19 9018540 9018540 + Missense_Mutation SNP A G g.chr19:9018540A>G c.37634T>C p.L12545P TCGA-W5-AA2Z-01A-11D-A417-09 MUC16 19 9090831 9090831 + Silent SNP A G g.chr19:9090831A>G c.984T>C p.P328P TCGA-WD-A7RX-01A-12D-A417-09 MUC16 19 9083333 9083333 + Missense_Mutation SNP C T g.chr19:9083333C>T c.8482G>A p.A2828T TCGA-ZH-A8Y4-01A-11D-A417-09 MUC16 19 9090831 9090831 + Silent SNP A G g.chr19:9090831A>G c.984T>C p.P328P TCGA-ZH-A8Y4-01A-11D-A417-09 MUC17 7 100681474 100681474 + Silent SNP A G g.chr7:100681474A>G c.6777A>G p.S2259S TCGA-W5-AA2Z-01A-11D-A417-09 MUC17 7 100681510 100681510 + Silent SNP T C g.chr7:100681510T>C c.6813T>C p.T2271T TCGA-W5-AA2Z-01A-11D-A417-09 MUC2 11 1092845 1092845 + Missense_Mutation SNP C T g.chr11:1092845C>T c.4664C>T p.T1555I TCGA-3X-AAV9-01A-72D-A417-09 MUC2 11 1093312 1093312 + Missense_Mutation SNP C G g.chr11:1093312C>G c.5131C>G p.P1711A TCGA-3X-AAVB-01A-31D-A417-09 MUC2 11 1093312 1093312 + Missense_Mutation SNP C G g.chr11:1093312C>G c.5131C>G p.P1711A TCGA-W5-AA2H-01A-31D-A417-09 MUC2 11 1092843 1092843 + Silent SNP C G g.chr11:1092843C>G c.4662C>G p.G1554G TCGA-W5-AA2O-01A-11D-A417-09 MUC2 11 1092890 1092890 + Missense_Mutation SNP C T g.chr11:1092890C>T c.4709C>T p.T1570I TCGA-W5-AA2O-01A-11D-A417-09 MUC2 11 1092615 1092615 + Silent SNP C T g.chr11:1092615C>T c.4434C>T p.S1478S TCGA-ZD-A8I3-01A-11D-A417-09 MUC2 11 1093061 1093061 + Missense_Mutation SNP C T g.chr11:1093061C>T c.4880C>T p.P1627L TCGA-ZD-A8I3-01A-11D-A417-09 MUC2 11 1093223 1093223 + Missense_Mutation SNP C A g.chr11:1093223C>A c.5042C>A p.T1681N TCGA-ZD-A8I3-01A-11D-A417-09 MUC2 11 1096456 1096456 + Missense_Mutation SNP G A g.chr11:1096456G>A c.6481G>A p.D2161N TCGA-ZH-A8Y4-01A-11D-A417-09 MUC2 11 1093232 1093232 + Missense_Mutation SNP T G g.chr11:1093232T>G c.5051T>G p.V1684G TCGA-ZU-A8S4-01A-11D-A417-09 MUC20 3 195452841 195452841 + Missense_Mutation SNP C A g.chr3:195452841C>A c.1367C>A p.S456Y TCGA-4G-AAZO-01A-12D-A417-09 MUC21 6 30954572 30954572 + Missense_Mutation SNP C T g.chr6:30954572C>T c.620C>T p.A207V TCGA-3X-AAV9-01A-72D-A417-09 MUC21 6 30954572 30954572 + Missense_Mutation SNP C T g.chr6:30954572C>T c.620C>T p.A207V TCGA-4G-AAZT-01A-11D-A417-09 MUC21 6 30954701 30954701 + Missense_Mutation SNP G A g.chr6:30954701G>A c.749G>A p.S250N TCGA-ZU-A8S4-01A-11D-A417-09 MUC5B 11 1255536 1255536 + Splice_Site SNP G T g.chr11:1255536G>T TCGA-3X-AAV9-01A-72D-A417-09 MUC5B 11 1256439 1256439 + Missense_Mutation SNP T G g.chr11:1256439T>G c.2755T>G p.Y919D TCGA-W5-AA2I-01A-32D-A417-09 MUC5B 11 1273681 1273681 + Missense_Mutation SNP C T g.chr11:1273681C>T c.14972C>T p.P4991L TCGA-W5-AA2I-01A-32D-A417-09 MUC5B 11 1247459 1247459 + Missense_Mutation SNP G A g.chr11:1247459G>A c.152G>A p.R51Q TCGA-W5-AA2Z-01A-11D-A417-09 MUC5B 11 1263842 1263842 + Missense_Mutation SNP C G g.chr11:1263842C>G c.5732C>G p.T1911S TCGA-W5-AA39-01A-11D-A417-09 MUC5B 11 1280229 1280229 + Missense_Mutation SNP G T g.chr11:1280229G>T c.16651G>T p.D5551Y TCGA-W5-AA39-01A-11D-A417-09 MUC5B 11 1269861 1269861 + Silent SNP A G g.chr11:1269861A>G c.11751A>G p.T3917T TCGA-ZH-A8Y1-01A-11D-A417-09 MUC5B 11 1258389 1258389 + Missense_Mutation SNP T G g.chr11:1258389T>G c.3292T>G p.S1098A TCGA-ZU-A8S4-01A-11D-A417-09 MUC6 11 1016916 1016916 + Missense_Mutation SNP A G g.chr11:1016916A>G c.5885T>C p.L1962P TCGA-3X-AAV9-01A-72D-A417-09 MUC6 11 1016412 1016414 + In_Frame_Del DEL GAG - g.chr11:1016412_1016414delGAG c.6387_6389delCTC p.2129_2130SS>S TCGA-3X-AAVC-01A-21D-A417-09 MUC6 11 1017988 1017988 + Missense_Mutation SNP G T g.chr11:1017988G>T c.4813C>A p.P1605T TCGA-W6-AA0S-01A-11D-A417-09 MUC7 4 71347033 71347033 + Missense_Mutation SNP C A g.chr4:71347033C>A c.572C>A p.A191D TCGA-3X-AAVA-01A-11D-A417-09 MUM1 19 1360675 1360675 + Missense_Mutation SNP C T g.chr19:1360675C>T c.758C>T p.A253V TCGA-W5-AA2I-01A-32D-A417-09 MUSK 9 113449410 113449410 + Silent SNP C A g.chr9:113449410C>A c.220C>A p.R74R TCGA-W5-AA2O-01A-11D-A417-09 MVD 16 88721635 88721635 + Missense_Mutation SNP C T g.chr16:88721635C>T c.869G>A p.R290H TCGA-W5-AA2O-01A-11D-A417-09 MVD 16 88721779 88721779 + Missense_Mutation SNP C T g.chr16:88721779C>T c.725G>A p.R242H TCGA-W6-AA0S-01A-11D-A417-09 MVP 16 29855899 29855899 + Missense_Mutation SNP G T g.chr16:29855899G>T c.1720G>T p.A574S TCGA-ZH-A8Y4-01A-11D-A417-09 MXD3 5 176738408 176738408 + Frame_Shift_Del DEL G - g.chr5:176738408delG c.148delC p.Q50fs TCGA-4G-AAZO-01A-12D-A417-09 MYADM 19 54376839 54376839 + Missense_Mutation SNP G T g.chr19:54376839G>T c.56G>T p.G19V TCGA-ZH-A8Y2-01A-11D-A417-09 MYBBP1A 17 4458229 4458229 + Missense_Mutation SNP A T g.chr17:4458229A>T c.221T>A p.L74Q TCGA-W5-AA2Q-01A-11D-A417-09 MYBL2 20 42315650 42315650 + Silent SNP C A g.chr20:42315650C>A c.438C>A p.I146I TCGA-3X-AAVB-01A-31D-A417-09 MYBL2 20 42311453 42311453 + Missense_Mutation SNP G T g.chr20:42311453G>T c.206G>T p.C69F TCGA-W5-AA30-01A-31D-A417-09 MYBPC1 12 102061631 102061631 + Silent SNP C T g.chr12:102061631C>T c.2457C>T p.S819S TCGA-W5-AA30-01A-31D-A417-09 MYBPC3 11 47360898 47360898 + Missense_Mutation SNP C T g.chr11:47360898C>T c.2125G>A p.D709N TCGA-W5-AA2G-01A-11D-A417-09 MYCBP2 13 77672823 77672823 + Silent SNP A C g.chr13:77672823A>C c.8352T>G p.P2784P TCGA-W5-AA39-01A-11D-A417-09 MYCBP2 13 77818052 77818052 + Missense_Mutation SNP C T g.chr13:77818052C>T c.2302G>A p.A768T TCGA-YR-A95A-01A-12D-A417-09 MYEOV 11 69063836 69063836 + Missense_Mutation SNP C A g.chr11:69063836C>A c.919C>A p.L307I TCGA-W5-AA2I-01A-32D-A417-09 MYF5 12 81110964 81110964 + Missense_Mutation SNP C T g.chr12:81110964C>T c.122C>T p.A41V TCGA-4G-AAZO-01A-12D-A417-09 MYH1 17 10398547 10398547 + Missense_Mutation SNP G A g.chr17:10398547G>A c.5257C>T p.R1753C TCGA-W5-AA38-01A-11D-A417-09 MYH10 17 8408136 8408136 + Missense_Mutation SNP C T g.chr17:8408136C>T c.3382G>A p.E1128K TCGA-W5-AA2U-01A-11D-A417-09 MYH13 17 10215287 10215287 + Missense_Mutation SNP G A g.chr17:10215287G>A c.4472C>T p.A1491V TCGA-W5-AA31-01A-11D-A417-09 MYH15 3 108174599 108174599 + Missense_Mutation SNP C T g.chr3:108174599C>T c.2306G>A p.R769Q TCGA-W5-AA2U-01A-11D-A417-09 MYH15 3 108147371 108147371 + Missense_Mutation SNP G T g.chr3:108147371G>T c.3730C>A p.L1244M TCGA-W5-AA33-01A-11D-A417-09 MYH2 17 10436657 10436657 + Missense_Mutation SNP C T g.chr17:10436657C>T c.2386G>A p.A796T TCGA-W5-AA2O-01A-11D-A417-09 MYH2 17 10426863 10426863 + Missense_Mutation SNP G T g.chr17:10426863G>T c.5422C>A p.Q1808K TCGA-W5-AA30-01A-31D-A417-09 MYH7 14 23896926 23896926 + Missense_Mutation SNP C T g.chr14:23896926C>T c.1756G>A p.V586M TCGA-ZH-A8Y2-01A-11D-A417-09 MYH8 17 10303865 10303865 + Missense_Mutation SNP C T g.chr17:10303865C>T c.3577G>A p.A1193T TCGA-W5-AA2W-01A-11D-A417-09 MYH9 22 36717867 36717867 + Splice_Site SNP C A g.chr22:36717867C>A TCGA-W5-AA39-01A-11D-A417-09 MYL7 7 44179935 44179935 + Silent SNP C T g.chr7:44179935C>T c.285G>A p.G95G TCGA-ZH-A8Y6-01A-11D-A417-09 MYLK 3 123339082 123339082 + Silent SNP C T g.chr3:123339082C>T c.5340G>A p.P1780P TCGA-W5-AA2T-01A-12D-A417-09 MYNN 3 169504301 169504301 + Missense_Mutation SNP G T g.chr3:169504301G>T c.1668G>T p.K556N TCGA-W5-AA34-01A-11D-A417-09 MYO15A 17 18023111 18023111 + Missense_Mutation SNP G A g.chr17:18023111G>A c.997G>A p.E333K TCGA-ZH-A8Y6-01A-11D-A417-09 MYO18A 17 27493528 27493528 + Missense_Mutation SNP C T g.chr17:27493528C>T c.431G>A p.R144H TCGA-W5-AA39-01A-11D-A417-09 MYO1C 17 1384109 1384109 + Missense_Mutation SNP C A g.chr17:1384109C>A c.593G>T p.G198V TCGA-W5-AA31-01A-11D-A417-09 MYO1H 12 109877582 109877582 + Missense_Mutation SNP G T g.chr12:109877582G>T c.2423G>T p.G808V TCGA-WD-A7RX-01A-12D-A417-09 MYO3A 10 26310439 26310439 + Missense_Mutation SNP C T g.chr10:26310439C>T c.593C>T p.A198V TCGA-W5-AA2W-01A-11D-A417-09 MYO3B 2 171371510 171371510 + Silent SNP C T g.chr2:171371510C>T c.3450C>T p.C1150C TCGA-W6-AA0S-01A-11D-A417-09 MYO5B 18 47566596 47566596 + Missense_Mutation SNP G T g.chr18:47566596G>T c.227C>A p.A76D TCGA-W5-AA2X-01A-11D-A417-09 MYO5B 18 47405423 47405423 + Missense_Mutation SNP C G g.chr18:47405423C>G c.3168G>C p.M1056I TCGA-ZD-A8I3-01A-11D-A417-09 MYO5B 18 47405423 47405423 + Missense_Mutation SNP C G g.chr18:47405423C>G c.3168G>C p.M1056I TCGA-ZH-A8Y6-01A-11D-A417-09 MYO5B 18 47405425 47405425 + Missense_Mutation SNP T G g.chr18:47405425T>G c.3166A>C p.M1056L TCGA-ZH-A8Y6-01A-11D-A417-09 MYO5C 15 52517156 52517156 + Missense_Mutation SNP G A g.chr15:52517156G>A c.3388C>T p.H1130Y TCGA-W5-AA2U-01A-11D-A417-09 MYO7A 11 76883884 76883884 + Missense_Mutation SNP C A g.chr11:76883884C>A c.1888C>A p.P630T TCGA-W5-AA2Z-01A-11D-A417-09 MYO7A 11 76885944 76885944 + Missense_Mutation SNP A C g.chr11:76885944A>C c.2078A>C p.K693T TCGA-W5-AA39-01A-11D-A417-09 MYO9A 15 72338441 72338441 + Missense_Mutation SNP G A g.chr15:72338441G>A c.464C>T p.P155L TCGA-W5-AA2O-01A-11D-A417-09 MYO9A 15 72226035 72226035 + Missense_Mutation SNP G C g.chr15:72226035G>C c.2538C>G p.F846L TCGA-W5-AA2W-01A-11D-A417-09 MYO9A 15 72190344 72190344 + Missense_Mutation SNP C G g.chr15:72190344C>G c.4500G>C p.R1500S TCGA-ZU-A8S4-01A-11D-A417-09 MYOM1 18 3067439 3067439 + Missense_Mutation SNP T A g.chr18:3067439T>A c.4879A>T p.R1627W TCGA-W5-AA39-01A-11D-A417-09 MYOM1 18 3067471 3067471 + Missense_Mutation SNP T A g.chr18:3067471T>A c.4847A>T p.D1616V TCGA-W5-AA39-01A-11D-A417-09 MYOM1 18 3067473 3067473 + Silent SNP T A g.chr18:3067473T>A c.4845A>T p.S1615S TCGA-W5-AA39-01A-11D-A417-09 MYOM1 18 3094261 3094261 + Missense_Mutation SNP T G g.chr18:3094261T>G c.3771A>C p.K1257N TCGA-W5-AA39-01A-11D-A417-09 MYOM3 1 24384096 24384096 + Missense_Mutation SNP C T g.chr1:24384096C>T c.4072G>A p.V1358I TCGA-WD-A7RX-01A-12D-A417-09 MYPN 10 69881563 69881563 + Missense_Mutation SNP G A g.chr10:69881563G>A c.368G>A p.R123Q TCGA-W5-AA2X-01A-11D-A417-09 MYRIP 3 40231505 40231505 + Missense_Mutation SNP G A g.chr3:40231505G>A c.1216G>A p.A406T TCGA-W5-AA39-01A-11D-A417-09 MYST3 8 41806877 41806877 + Missense_Mutation SNP G T g.chr8:41806877G>T c.1603C>A p.P535T TCGA-W5-AA2G-01A-11D-A417-09 MYT1L 2 1890332 1890332 + Missense_Mutation SNP G T g.chr2:1890332G>T c.2690C>A p.A897D TCGA-WD-A7RX-01A-12D-A417-09 MYT1L 2 1926757 1926757 + Missense_Mutation SNP C T g.chr2:1926757C>T c.784G>A p.V262M TCGA-ZH-A8Y2-01A-11D-A417-09 N4BP2 4 40122733 40122733 + Missense_Mutation SNP A G g.chr4:40122733A>G c.3002A>G p.Q1001R TCGA-3X-AAV9-01A-72D-A417-09 N4BP2 4 40154490 40154490 + Missense_Mutation SNP C T g.chr4:40154490C>T c.5234C>T p.A1745V TCGA-3X-AAVA-01A-11D-A417-09 N4BP2 4 40133497 40133497 + Missense_Mutation SNP C T g.chr4:40133497C>T c.4604C>T p.A1535V TCGA-W5-AA2Z-01A-11D-A417-09 NAA35 9 88631517 88631517 + Missense_Mutation SNP A T g.chr9:88631517A>T c.1632A>T p.Q544H TCGA-3X-AAVB-01A-31D-A417-09 NACA 12 57113583 57113583 + Silent SNP G T g.chr12:57113583G>T c.1731C>A p.S577S TCGA-W5-AA2X-01A-11D-A417-09 NAE1 16 66839907 66839907 + Missense_Mutation SNP T A g.chr16:66839907T>A c.1353A>T p.E451D TCGA-3X-AAVC-01A-21D-A417-09 NAF1 4 164050118 164050118 + Silent SNP A G g.chr4:164050118A>G c.1416T>C p.P472P TCGA-W5-AA31-01A-11D-A417-09 NAF1 4 164050124 164050124 + Silent SNP T G g.chr4:164050124T>G c.1410A>C p.P470P TCGA-W5-AA31-01A-11D-A417-09 NAF1 4 164050124 164050124 + Silent SNP T G g.chr4:164050124T>G c.1410A>C p.P470P TCGA-W5-AA34-01A-11D-A417-09 NAGLU 17 40689478 40689478 + Missense_Mutation SNP G A g.chr17:40689478G>A c.446G>A p.R149H TCGA-W5-AA39-01A-11D-A417-09 NAIP 5 70299665 70299666 + Frame_Shift_Ins INS - A g.chr5:70299665_70299666insA c.687_688insT p.K230fs TCGA-W5-AA2G-01A-11D-A417-09 NAMPT 7 105894816 105894816 + Silent SNP G T g.chr7:105894816G>T c.1224C>A p.G408G TCGA-3X-AAVB-01A-31D-A417-09 NAMPT 7 105894878 105894878 + Missense_Mutation SNP G T g.chr7:105894878G>T c.1162C>A p.Q388K TCGA-ZH-A8Y8-01A-51D-A417-09 NAP1L1 12 76444323 76444323 + Missense_Mutation SNP A T g.chr12:76444323A>T c.1047T>A p.D349E TCGA-3X-AAV9-01A-72D-A417-09 NAP1L1 12 76447054 76447054 + Missense_Mutation SNP C A g.chr12:76447054C>A c.847G>T p.G283W TCGA-4G-AAZO-01A-12D-A417-09 NAP1L1 12 76449901 76449901 + Missense_Mutation SNP T C g.chr12:76449901T>C c.470A>G p.K157R TCGA-W5-AA2X-01A-11D-A417-09 NARF 17 80443387 80443387 + Missense_Mutation SNP A G g.chr17:80443387A>G c.986A>G p.Q329R TCGA-ZH-A8Y6-01A-11D-A417-09 NAV1 1 201618049 201618049 + Missense_Mutation SNP C G g.chr1:201618049C>G c.253C>G p.L85V TCGA-3X-AAVC-01A-21D-A417-09 NAV1 1 201709171 201709171 + Intron SNP C A g.chr1:201709171C>A TCGA-W5-AA2O-01A-11D-A417-09 NAV1 1 201749556 201749556 + Nonsense_Mutation SNP G T g.chr1:201749556G>T c.1234G>T p.E412* TCGA-ZD-A8I3-01A-11D-A417-09 NAV2 11 19890524 19890524 + Silent SNP C A g.chr11:19890524C>A c.492C>A p.I164I TCGA-W5-AA2X-01A-11D-A417-09 NAV2 11 19970265 19970265 + Missense_Mutation SNP G T g.chr11:19970265G>T c.2353G>T p.V785F TCGA-W5-AA33-01A-11D-A417-09 NAV2 11 20101694 20101694 + Missense_Mutation SNP G T g.chr11:20101694G>T c.5432G>T p.S1811I TCGA-ZH-A8Y8-01A-51D-A417-09 NAV3 12 78225326 78225326 + Missense_Mutation SNP C A g.chr12:78225326C>A c.85C>A p.L29I TCGA-W5-AA2I-01A-32D-A417-09 NAV3 12 78583941 78583941 + Missense_Mutation SNP G T g.chr12:78583941G>T c.6233G>T p.G2078V TCGA-W5-AA2Q-01A-11D-A417-09 NAV3 12 78362376 78362378 + In_Frame_Del DEL CAA - g.chr12:78362376_78362378delCAA c.565_567delCAA p.Q191del TCGA-W5-AA2W-01A-11D-A417-09 NAV3 12 78520946 78520946 + Splice_Site SNP G T g.chr12:78520946G>T TCGA-W6-AA0S-01A-11D-A417-09 NBAS 2 15378717 15378717 + Missense_Mutation SNP C T g.chr2:15378717C>T c.5818G>A p.E1940K TCGA-W5-AA2T-01A-12D-A417-09 NBEAL1 2 204022462 204022462 + Frame_Shift_Del DEL G - g.chr2:204022462delG c.5541delG p.L1847fs TCGA-W5-AA2G-01A-11D-A417-09 NBEAL1 2 203995146 203995146 + Missense_Mutation SNP G T g.chr2:203995146G>T c.3424G>T p.A1142S TCGA-W5-AA2Z-01A-11D-A417-09 NBEAL1 2 204000456 204000456 + Silent SNP G T g.chr2:204000456G>T c.3783G>T p.V1261V TCGA-ZH-A8Y6-01A-11D-A417-09 NBN 8 90983510 90983510 + Missense_Mutation SNP G T g.chr8:90983510G>T c.593C>A p.P198Q TCGA-3X-AAV9-01A-72D-A417-09 NBN 8 90983510 90983510 + Missense_Mutation SNP G T g.chr8:90983510G>T c.593C>A p.P198Q TCGA-W5-AA2U-01A-11D-A417-09 NBPF1 1 16892237 16892237 + Missense_Mutation SNP A C g.chr1:16892237A>C c.2955T>G p.C985W TCGA-4G-AAZT-01A-11D-A417-09 NBPF10 1 145299899 145299899 + Silent SNP T G g.chr1:145299899T>G c.135T>G p.T45T TCGA-W5-AA39-01A-11D-A417-09 NCAM1 11 113105856 113105856 + Missense_Mutation SNP G A g.chr11:113105856G>A c.1411G>A p.A471T TCGA-W5-AA34-01A-11D-A417-09 NCAPG2 7 158478886 158478886 + Missense_Mutation SNP T C g.chr7:158478886T>C c.815A>G p.K272R TCGA-W5-AA34-01A-11D-A417-09 NCAPH 2 97020038 97020038 + Missense_Mutation SNP G T g.chr2:97020038G>T c.1120G>T p.D374Y TCGA-3X-AAVA-01A-11D-A417-09 NCK2 2 106471558 106471558 + Silent SNP C T g.chr2:106471558C>T c.39C>T p.Y13Y TCGA-W5-AA2R-01A-11D-A417-09 NCKAP1L 12 54917650 54917650 + Missense_Mutation SNP C A g.chr12:54917650C>A c.2066C>A p.T689K TCGA-4G-AAZT-01A-11D-A417-09 NCKIPSD 3 48712059 48712059 + Missense_Mutation SNP G T g.chr3:48712059G>T c.2087C>A p.T696N TCGA-W5-AA2Q-01A-11D-A417-09 NCOA2 8 71068239 71068239 + Silent SNP C T g.chr8:71068239C>T c.2361G>A p.E787E TCGA-W5-AA2T-01A-12D-A417-09 NCOA3 20 46279833 46279833 + Silent SNP G A g.chr20:46279833G>A c.3759G>A p.Q1253Q TCGA-4G-AAZO-01A-12D-A417-09 NCOA3 20 46279833 46279833 + Silent SNP G A g.chr20:46279833G>A c.3759G>A p.Q1253Q TCGA-W5-AA2T-01A-12D-A417-09 NCOA3 20 46279833 46279833 + Silent SNP G A g.chr20:46279833G>A c.3759G>A p.Q1253Q TCGA-W5-AA2X-01A-11D-A417-09 NCOA4 10 51580885 51580885 + Missense_Mutation SNP G T g.chr10:51580885G>T c.288G>T p.L96F TCGA-W5-AA38-01A-11D-A417-09 NCOA4 10 51582263 51582263 + Missense_Mutation SNP G T g.chr10:51582263G>T c.561G>T p.M187I TCGA-ZH-A8Y8-01A-51D-A417-09 NCOR1 17 16040656 16040656 + Missense_Mutation SNP C A g.chr17:16040656C>A c.1478G>T p.R493M TCGA-4G-AAZO-01A-12D-A417-09 NCOR1 17 15971432 15971432 + Missense_Mutation SNP G T g.chr17:15971432G>T c.4517C>A p.T1506K TCGA-W5-AA2U-01A-11D-A417-09 NCOR1 17 15976773 15976773 + Missense_Mutation SNP T C g.chr17:15976773T>C c.3781A>G p.R1261G TCGA-W5-AA39-01A-11D-A417-09 NCOR2 12 124839411 124839411 + Silent SNP C T g.chr12:124839411C>T c.3456G>A p.L1152L TCGA-YR-A95A-01A-12D-A417-09 NDEL1 17 8350192 8350192 + Missense_Mutation SNP G A g.chr17:8350192G>A c.361G>A p.A121T TCGA-W5-AA2H-01A-31D-A417-09 NDEL1 17 8354204 8354204 + Missense_Mutation SNP A C g.chr17:8354204A>C c.633A>C p.Q211H TCGA-W5-AA39-01A-11D-A417-09 NDN 15 23931983 23931983 + Missense_Mutation SNP C T g.chr15:23931983C>T c.382G>A p.V128I TCGA-W5-AA39-01A-11D-A417-09 NDRG3 20 35315979 35315979 + Missense_Mutation SNP T C g.chr20:35315979T>C c.236A>G p.D79G TCGA-W5-AA31-01A-11D-A417-09 NDST3 4 119154220 119154220 + Missense_Mutation SNP T C g.chr4:119154220T>C c.1873T>C p.S625P TCGA-W5-AA2R-01A-11D-A417-09 NDST4 4 115858480 115858480 + Missense_Mutation SNP G T g.chr4:115858480G>T c.1401C>A p.S467R TCGA-W5-AA2O-01A-11D-A417-09 NDUFA13 19 19638817 19638818 + Splice_Site INS - G g.chr19:19638817_19638818insG c.317_318insG p.VG106fs TCGA-W5-AA39-01A-11D-A417-09 NDUFA13 19 19638823 19638823 + Missense_Mutation SNP A G g.chr19:19638823A>G c.323A>G p.E108G TCGA-W5-AA39-01A-11D-A417-09 NDUFA9 12 4763523 4763523 + Missense_Mutation SNP G T g.chr12:4763523G>T c.115G>T p.A39S TCGA-ZH-A8Y5-01A-11D-A417-09 NDUFB10 16 2011155 2011155 + Splice_Site SNP A C g.chr16:2011155A>C c.132A>C p.E44D TCGA-W5-AA39-01A-11D-A417-09 NDUFV1 11 67378874 67378874 + Splice_Site SNP G C g.chr11:67378874G>C c.914G>C p.G305A TCGA-W5-AA39-01A-11D-A417-09 NEB 2 152354773 152354773 + Intron SNP C T g.chr2:152354773C>T TCGA-4G-AAZO-01A-12D-A417-09 NEB 2 152547337 152547337 + Missense_Mutation SNP A T g.chr2:152547337A>T c.2214T>A p.H738Q TCGA-4G-AAZO-01A-12D-A417-09 NEB 2 152384096 152384096 + Missense_Mutation SNP C G g.chr2:152384096C>G c.16636G>C p.D5546H TCGA-ZH-A8Y2-01A-11D-A417-09 NEB 2 152426643 152426643 + Missense_Mutation SNP G T g.chr2:152426643G>T c.12279C>A p.D4093E TCGA-ZH-A8Y8-01A-51D-A417-09 NEBL 10 21169808 21169808 + Missense_Mutation SNP G T g.chr10:21169808G>T c.395C>A p.A132D TCGA-W5-AA2T-01A-12D-A417-09 NEDD4 15 56258687 56258687 + Missense_Mutation SNP C T g.chr15:56258687C>T c.103G>A p.D35N TCGA-W5-AA2Q-01A-11D-A417-09 NEDD9 6 11191311 11191311 + Missense_Mutation SNP G T g.chr6:11191311G>T c.791C>A p.P264H TCGA-W5-AA2Q-01A-11D-A417-09 NEFH 22 29885823 29885823 + Missense_Mutation SNP A T g.chr22:29885823A>T c.2194A>T p.T732S TCGA-4G-AAZO-01A-12D-A417-09 NEFM 8 24775376 24775376 + Missense_Mutation SNP T C g.chr8:24775376T>C c.2008T>C p.S670P TCGA-W5-AA39-01A-11D-A417-09 NEIL3 4 178256872 178256872 + Missense_Mutation SNP G A g.chr4:178256872G>A c.309G>A p.M103I TCGA-W5-AA2T-01A-12D-A417-09 NEK3 13 52726745 52726745 + Splice_Site SNP T A g.chr13:52726745T>A c.392A>T p.K131M TCGA-WD-A7RX-01A-12D-A417-09 NEK5 13 52684525 52684525 + Nonsense_Mutation SNP C A g.chr13:52684525C>A c.418G>T p.G140* TCGA-W5-AA2Q-01A-11D-A417-09 NEK6 9 127113221 127113221 + Missense_Mutation SNP A G g.chr9:127113221A>G c.937A>G p.T313A TCGA-W5-AA39-01A-11D-A417-09 NELF 9 140348862 140348862 + Missense_Mutation SNP G T g.chr9:140348862G>T c.813C>A p.S271R TCGA-ZH-A8Y4-01A-11D-A417-09 NELL1 11 21135210 21135210 + Missense_Mutation SNP G T g.chr11:21135210G>T c.1376G>T p.R459L TCGA-W5-AA34-01A-11D-A417-09 NELL2 12 44926453 44926453 + Missense_Mutation SNP C T g.chr12:44926453C>T c.1715G>A p.C572Y TCGA-W5-AA2Q-01A-11D-A417-09 NEO1 15 73541487 73541487 + Missense_Mutation SNP G T g.chr15:73541487G>T c.1693G>T p.G565C TCGA-W5-AA34-01A-11D-A417-09 NES 1 156642556 156642556 + Missense_Mutation SNP G T g.chr1:156642556G>T c.1424C>A p.S475Y TCGA-3X-AAV9-01A-72D-A417-09 NET1 10 5496410 5496410 + Silent SNP A G g.chr10:5496410A>G c.951A>G p.K317K TCGA-3X-AAVE-01A-11D-A417-09 NETO1 18 70450978 70450978 + Missense_Mutation SNP C T g.chr18:70450978C>T c.803G>A p.R268H TCGA-W5-AA30-01A-31D-A417-09 NEU4 2 242757381 242757381 + Nonsense_Mutation SNP G A g.chr2:242757381G>A c.462G>A p.W154* TCGA-ZH-A8Y2-01A-11D-A417-09 NEURL4 17 7232439 7232439 + Nonsense_Mutation SNP G A g.chr17:7232439G>A c.193C>T p.Q65* TCGA-3X-AAVB-01A-31D-A417-09 NEUROD1 2 182542721 182542721 + Silent SNP C T g.chr2:182542721C>T c.867G>A p.P289P TCGA-W5-AA2I-01A-32D-A417-09 NF2 22 30054254 30054254 + Splice_Site SNP G T g.chr22:30054254G>T TCGA-W5-AA2Q-01A-11D-A417-09 NF2 22 30064437 30064437 + Splice_Site SNP T G g.chr22:30064437T>G TCGA-W6-AA0S-01A-11D-A417-09 NF2 22 30054251 30054251 + Missense_Mutation SNP C T g.chr22:30054251C>T c.673C>T p.R225W TCGA-ZH-A8Y4-01A-11D-A417-09 NFASC 1 204956669 204956669 + Splice_Site SNP G A g.chr1:204956669G>A TCGA-W5-AA31-01A-11D-A417-09 NFATC2 20 50092014 50092014 + Missense_Mutation SNP T G g.chr20:50092014T>G c.1516A>C p.K506Q TCGA-W5-AA2T-01A-12D-A417-09 NFE2L1 17 46136201 46136212 + In_Frame_Del DEL CTTCTTCCTCTG - g.chr17:46136201_46136212delCTTCTTCCTCTG c.1517_1528delCTTCTTCCTCTG p.SSSA511del TCGA-W6-AA0S-01A-11D-A417-09 NFE2L2 2 178098799 178098799 + Missense_Mutation SNP T A g.chr2:178098799T>A c.246A>T p.E82D TCGA-ZH-A8Y2-01A-11D-A417-09 NFE2L3 7 26224462 26224462 + Missense_Mutation SNP T C g.chr7:26224462T>C c.1144T>C p.Y382H TCGA-3X-AAVA-01A-11D-A417-09 NFE2L3 7 26224872 26224872 + Silent SNP G T g.chr7:26224872G>T c.1554G>T p.G518G TCGA-W5-AA2T-01A-12D-A417-09 NFE2L3 7 26224962 26224962 + Silent SNP T C g.chr7:26224962T>C c.1644T>C p.P548P TCGA-YR-A95A-01A-12D-A417-09 NFKB2 10 104157319 104157319 + Nonsense_Mutation SNP G T g.chr10:104157319G>T c.538G>T p.E180* TCGA-3X-AAV9-01A-72D-A417-09 NFKB2 10 104157131 104157131 + Missense_Mutation SNP G T g.chr10:104157131G>T c.468G>T p.R156S TCGA-3X-AAVA-01A-11D-A417-09 NFKBIZ 3 101572374 101572374 + Missense_Mutation SNP G T g.chr3:101572374G>T c.1004G>T p.C335F TCGA-ZH-A8Y4-01A-11D-A417-09 NFYB 12 104517018 104517018 + Missense_Mutation SNP G T g.chr12:104517018G>T c.415C>A p.Q139K TCGA-4G-AAZO-01A-12D-A417-09 NGEF 2 233756101 233756101 + Silent SNP G A g.chr2:233756101G>A c.1239C>T p.F413F TCGA-ZH-A8Y8-01A-51D-A417-09 NHEDC2 4 103988622 103988622 + Missense_Mutation SNP G T g.chr4:103988622G>T c.86C>A p.A29E TCGA-ZH-A8Y8-01A-51D-A417-09 NHLRC1 6 18122100 18122100 + Silent SNP G A g.chr6:18122100G>A c.738C>T p.F246F TCGA-ZH-A8Y6-01A-11D-A417-09 NHLRC2 10 115657896 115657896 + Missense_Mutation SNP T C g.chr10:115657896T>C c.1067T>C p.L356S TCGA-W5-AA39-01A-11D-A417-09 NID1 1 236205367 236205367 + Silent SNP G A g.chr1:236205367G>A c.978C>T p.Y326Y TCGA-4G-AAZT-01A-11D-A417-09 NID1 1 236175334 236175334 + Missense_Mutation SNP T A g.chr1:236175334T>A c.2414A>T p.E805V TCGA-W5-AA39-01A-11D-A417-09 NID1 1 236175345 236175345 + Splice_Site SNP T C g.chr1:236175345T>C TCGA-W5-AA39-01A-11D-A417-09 NID2 14 52520801 52520801 + Silent SNP A G g.chr14:52520801A>G c.1006T>C p.L336L TCGA-WD-A7RX-01A-12D-A417-09 NID2 14 52535520 52535520 + Missense_Mutation SNP G T g.chr14:52535520G>T c.193C>A p.L65M TCGA-ZH-A8Y6-01A-11D-A417-09 NIPA1 15 23049093 23049093 + Silent SNP G T g.chr15:23049093G>T c.726C>A p.I242I TCGA-W5-AA34-01A-11D-A417-09 NIPAL1 4 48037901 48037901 + Silent SNP A T g.chr4:48037901A>T c.945A>T p.T315T TCGA-WD-A7RX-01A-12D-A417-09 NIPBL 5 37007576 37007576 + Splice_Site SNP G T g.chr5:37007576G>T c.4239G>T p.Q1413H TCGA-3X-AAVE-01A-11D-A417-09 NIPBL 5 36961673 36961673 + Missense_Mutation SNP A C g.chr5:36961673A>C c.446A>C p.H149P TCGA-W5-AA31-01A-11D-A417-09 NISCH 3 52510551 52510551 + Missense_Mutation SNP C T g.chr3:52510551C>T c.854C>T p.T285I TCGA-3X-AAVC-01A-21D-A417-09 NKD1 16 50664815 50664815 + Missense_Mutation SNP C T g.chr16:50664815C>T c.689C>T p.P230L TCGA-ZH-A8Y6-01A-11D-A417-09 NKX2-5 5 172659642 172659642 + Missense_Mutation SNP G A g.chr5:172659642G>A c.905C>T p.A302V TCGA-W5-AA2I-01A-32D-A417-09 NLGN1 3 173322868 173322868 + Silent SNP C T g.chr3:173322868C>T c.480C>T p.V160V TCGA-W6-AA0S-01A-11D-A417-09 NLGN1 3 173999084 173999084 + Silent SNP C A g.chr3:173999084C>A c.2463C>A p.T821T TCGA-W6-AA0S-01A-11D-A417-09 NLRP1 17 5462653 5462653 + Missense_Mutation SNP G T g.chr17:5462653G>T c.1363C>A p.L455M TCGA-YR-A95A-01A-12D-A417-09 NLRP3 1 247588563 247588563 + Silent SNP G T g.chr1:247588563G>T c.1818G>T p.L606L TCGA-W5-AA38-01A-11D-A417-09 NLRP5 19 56515295 56515295 + Silent SNP C T g.chr19:56515295C>T c.276C>T p.T92T TCGA-W5-AA2O-01A-11D-A417-09 NLRP5 19 56527149 56527149 + Missense_Mutation SNP G A g.chr19:56527149G>A c.550G>A p.E184K TCGA-W5-AA39-01A-11D-A417-09 NLRP8 19 56477640 56477640 + Nonsense_Mutation SNP C T g.chr19:56477640C>T c.2275C>T p.Q759* TCGA-W5-AA2G-01A-11D-A417-09 NLRP8 19 56467321 56467321 + Missense_Mutation SNP G T g.chr19:56467321G>T c.1897G>T p.V633F TCGA-W5-AA39-01A-11D-A417-09 NLRP8 19 56467321 56467321 + Missense_Mutation SNP G T g.chr19:56467321G>T c.1897G>T p.V633F TCGA-ZH-A8Y5-01A-11D-A417-09 NLRP8 19 56466176 56466176 + Missense_Mutation SNP C T g.chr19:56466176C>T c.752C>T p.T251M TCGA-ZU-A8S4-01A-11D-A417-09 NLRX1 11 119050623 119050623 + Silent SNP C G g.chr11:119050623C>G c.1893C>G p.L631L TCGA-4G-AAZT-01A-11D-A417-09 NLRX1 11 119043116 119043116 + Missense_Mutation SNP G A g.chr11:119043116G>A c.122G>A p.R41H TCGA-W5-AA2H-01A-31D-A417-09 NLRX1 11 119050924 119050924 + Missense_Mutation SNP T G g.chr11:119050924T>G c.2194T>G p.L732V TCGA-W5-AA39-01A-11D-A417-09 NMT1 17 43182337 43182337 + Missense_Mutation SNP G T g.chr17:43182337G>T c.1443G>T p.W481C TCGA-W5-AA2X-01A-11D-A417-09 NMUR1 2 232393062 232393062 + Missense_Mutation SNP G T g.chr2:232393062G>T c.670C>A p.P224T TCGA-3X-AAVB-01A-31D-A417-09 NNT 5 43704461 43704461 + Silent SNP A G g.chr5:43704461A>G c.3216A>G p.T1072T TCGA-4G-AAZO-01A-12D-A417-09 NOD2 16 50733483 50733483 + Missense_Mutation SNP T G g.chr16:50733483T>G c.158T>G p.F53C TCGA-W5-AA39-01A-11D-A417-09 NOL12 22 38084863 38084863 + Missense_Mutation SNP C A g.chr22:38084863C>A c.245C>A p.A82E TCGA-ZH-A8Y4-01A-11D-A417-09 NOL4 18 31803205 31803205 + Missense_Mutation SNP G C g.chr18:31803205G>C c.13C>G p.R5G TCGA-W5-AA34-01A-11D-A417-09 NOL9 1 6593398 6593398 + Silent SNP C T g.chr1:6593398C>T c.1179G>A p.V393V TCGA-W5-AA2G-01A-11D-A417-09 NOL9 1 6609749 6609749 + Missense_Mutation SNP C T g.chr1:6609749C>T c.626G>A p.R209H TCGA-W5-AA38-01A-11D-A417-09 NOL9 1 6610487 6610487 + Silent SNP G T g.chr1:6610487G>T c.585C>A p.A195A TCGA-ZH-A8Y1-01A-11D-A417-09 NOLC1 10 103916788 103916788 + Missense_Mutation SNP G A g.chr10:103916788G>A c.133G>A p.A45T TCGA-W6-AA0S-01A-11D-A417-09 NOM1 7 156743095 156743095 + Missense_Mutation SNP G C g.chr7:156743095G>C c.664G>C p.A222P TCGA-W5-AA2X-01A-11D-A417-09 NOM1 7 156745289 156745289 + Missense_Mutation SNP A G g.chr7:156745289A>G c.1109A>G p.N370S TCGA-W5-AA39-01A-11D-A417-09 NONO 23 70516449 70516449 + Nonsense_Mutation SNP C T g.chrX:70516449C>T c.685C>T p.Q229* TCGA-W5-AA33-01A-11D-A417-09 NOS1 12 117660627 117660627 + Nonsense_Mutation SNP G A g.chr12:117660627G>A c.3970C>T p.Q1324* TCGA-W5-AA2R-01A-11D-A417-09 NOS1 12 117691478 117691478 + Missense_Mutation SNP G T g.chr12:117691478G>T c.2715C>A p.D905E TCGA-ZH-A8Y6-01A-11D-A417-09 NOS2 17 26101406 26101406 + Silent SNP G A g.chr17:26101406G>A c.1353C>T p.Y451Y TCGA-3X-AAVC-01A-21D-A417-09 NOS3 7 150704218 150704218 + Missense_Mutation SNP G A g.chr7:150704218G>A c.1966G>A p.A656T TCGA-3X-AAVE-01A-11D-A417-09 NOS3 7 150698924 150698924 + Silent SNP C A g.chr7:150698924C>A c.1518C>A p.S506S TCGA-4G-AAZO-01A-12D-A417-09 NOTCH1 9 139399225 139399225 + Missense_Mutation SNP C T g.chr9:139399225C>T c.4918G>A p.A1640T TCGA-ZH-A8Y1-01A-11D-A417-09 NOTCH2 1 120539668 120539668 + Missense_Mutation SNP T A g.chr1:120539668T>A c.703A>T p.T235S TCGA-3X-AAVC-01A-21D-A417-09 NOTCH2 1 120539668 120539668 + Missense_Mutation SNP T A g.chr1:120539668T>A c.703A>T p.T235S TCGA-W6-AA0S-01A-11D-A417-09 NOTCH3 19 15272347 15272347 + Missense_Mutation SNP C T g.chr19:15272347C>T c.6092G>A p.R2031H TCGA-3X-AAVB-01A-31D-A417-09 NOTCH3 19 15290252 15290252 + Missense_Mutation SNP G T g.chr19:15290252G>T c.3383C>A p.S1128Y TCGA-ZH-A8Y6-01A-11D-A417-09 NOTCH4 6 32169249 32169249 + Missense_Mutation SNP G T g.chr6:32169249G>T c.3784C>A p.H1262N TCGA-4G-AAZO-01A-12D-A417-09 NOTCH4 6 32166895 32166895 + Missense_Mutation SNP G A g.chr6:32166895G>A c.4343C>T p.P1448L TCGA-W5-AA39-01A-11D-A417-09 NOX4 11 89106611 89106611 + Missense_Mutation SNP C T g.chr11:89106611C>T c.1124G>A p.G375E TCGA-W5-AA2W-01A-11D-A417-09 NOX5 15 69325389 69325389 + Silent SNP C A g.chr15:69325389C>A c.627C>A p.A209A TCGA-4G-AAZO-01A-12D-A417-09 NOXO1 16 2030477 2030477 + Missense_Mutation SNP A G g.chr16:2030477A>G c.307T>C p.Y103H TCGA-W5-AA39-01A-11D-A417-09 NPEPPS 17 45663749 45663749 + Missense_Mutation SNP G A g.chr17:45663749G>A c.965G>A p.G322D TCGA-3X-AAVC-01A-21D-A417-09 NPFFR1 10 72025934 72025934 + Missense_Mutation SNP A T g.chr10:72025934A>T c.221T>A p.M74K TCGA-ZD-A8I3-01A-11D-A417-09 NPHP4 1 5951028 5951028 + Missense_Mutation SNP C A g.chr1:5951028C>A c.2204G>T p.R735L TCGA-W5-AA2Z-01A-11D-A417-09 NPLOC4 17 79526288 79526288 + Silent SNP G T g.chr17:79526288G>T c.1824C>A p.T608T TCGA-3X-AAVC-01A-21D-A417-09 NPLOC4 17 79563165 79563165 + Missense_Mutation SNP T G g.chr17:79563165T>G c.1097A>C p.K366T TCGA-W5-AA39-01A-11D-A417-09 NPM1 5 170819801 170819801 + Missense_Mutation SNP G T g.chr5:170819801G>T c.440G>T p.G147V TCGA-W5-AA30-01A-31D-A417-09 NPM3 10 103542240 103542240 + Missense_Mutation SNP G A g.chr10:103542240G>A c.319C>T p.P107S TCGA-W5-AA38-01A-11D-A417-09 NPR2 9 35802530 35802530 + Missense_Mutation SNP C T g.chr9:35802530C>T c.1741C>T p.R581C TCGA-W5-AA2X-01A-11D-A417-09 NPR2 9 35792667 35792667 + Missense_Mutation SNP A G g.chr9:35792667A>G c.262A>G p.K88E TCGA-W5-AA39-01A-11D-A417-09 NPTN 15 73889442 73889442 + Silent SNP G A g.chr15:73889442G>A c.360C>T p.N120N TCGA-ZU-A8S4-01A-11D-A417-09 NPVF 7 25266573 25266573 + Missense_Mutation SNP T C g.chr7:25266573T>C c.211A>G p.I71V TCGA-W5-AA2T-01A-12D-A417-09 NPY1R 4 164246817 164246817 + Silent SNP G A g.chr4:164246817G>A c.793C>T p.L265L TCGA-4G-AAZT-01A-11D-A417-09 NR1I3 1 161206261 161206261 + Missense_Mutation SNP T G g.chr1:161206261T>G c.95A>C p.K32T TCGA-W5-AA2Q-01A-11D-A417-09 NR1I3 1 161202597 161202597 + Splice_Site SNP C A g.chr1:161202597C>A c.548G>T p.R183L TCGA-ZD-A8I3-01A-11D-A417-09 NR2C1 12 95416118 95416118 + Nonsense_Mutation SNP C A g.chr12:95416118C>A c.1699G>T p.E567* TCGA-W5-AA2G-01A-11D-A417-09 NR2C2 3 15062263 15062263 + Missense_Mutation SNP G T g.chr3:15062263G>T c.380G>T p.R127L TCGA-YR-A95A-01A-12D-A417-09 NR2E1 6 108501554 108501554 + Nonsense_Mutation SNP G T g.chr6:108501554G>T c.670G>T p.E224* TCGA-W5-AA31-01A-11D-A417-09 NRCAM 7 107824716 107824716 + Nonsense_Mutation SNP G T g.chr7:107824716G>T c.2273C>A p.S758* TCGA-W5-AA39-01A-11D-A417-09 NRD1 1 52276063 52276063 + Missense_Mutation SNP G T g.chr1:52276063G>T c.1997C>A p.A666D TCGA-W5-AA2Z-01A-11D-A417-09 NRXN1 2 50699451 50699451 + Nonsense_Mutation SNP C A g.chr2:50699451C>A c.3229G>T p.E1077* TCGA-W5-AA2O-01A-11D-A417-09 NRXN1 2 50723152 50723152 + Silent SNP C T g.chr2:50723152C>T c.2961G>A p.Q987Q TCGA-ZH-A8Y6-01A-11D-A417-09 NSD1 5 176721680 176721680 + Silent SNP A G g.chr5:176721680A>G c.7311A>G p.K2437K TCGA-W5-AA30-01A-31D-A417-09 NSD1 5 176709524 176709524 + Missense_Mutation SNP G T g.chr5:176709524G>T c.5951G>T p.R1984L TCGA-W5-AA34-01A-11D-A417-09 NSFL1C 20 1445015 1445015 + Silent SNP C T g.chr20:1445015C>T c.162G>A p.S54S TCGA-WD-A7RX-01A-12D-A417-09 NSUN2 5 6622195 6622195 + Missense_Mutation SNP C T g.chr5:6622195C>T c.556G>A p.A186T TCGA-W5-AA2O-01A-11D-A417-09 NSUN4 1 46810541 46810541 + Silent SNP G A g.chr1:46810541G>A c.162G>A p.V54V TCGA-WD-A7RX-01A-12D-A417-09 NSUN5 7 72722459 72722459 + Missense_Mutation SNP G T g.chr7:72722459G>T c.185C>A p.A62E TCGA-3X-AAVB-01A-31D-A417-09 NT5C1B 2 18766068 18766068 + Silent SNP G A g.chr2:18766068G>A c.615C>T p.R205R TCGA-4G-AAZO-01A-12D-A417-09 NT5C2 10 104866417 104866417 + Silent SNP C A g.chr10:104866417C>A c.222G>T p.V74V TCGA-ZD-A8I3-01A-11D-A417-09 NT5DC2 3 52561903 52561903 + Missense_Mutation SNP G A g.chr3:52561903G>A c.766C>T p.R256C TCGA-3X-AAVC-01A-21D-A417-09 NT5DC3 12 104171615 104171615 + Missense_Mutation SNP C T g.chr12:104171615C>T c.1639G>A p.A547T TCGA-3X-AAVE-01A-11D-A417-09 NT5DC3 12 104171793 104171793 + Silent SNP G T g.chr12:104171793G>T c.1461C>A p.T487T TCGA-W5-AA30-01A-31D-A417-09 NTF3 12 5604050 5604050 + Missense_Mutation SNP G T g.chr12:5604050G>T c.670G>T p.V224F TCGA-ZU-A8S4-01A-11D-A417-09 NTRK1 1 156844710 156844710 + Missense_Mutation SNP G T g.chr1:156844710G>T c.1264G>T p.V422L TCGA-ZD-A8I3-01A-11D-A417-09 NTRK3 15 88678415 88678415 + Missense_Mutation SNP C G g.chr15:88678415C>G c.1121G>C p.G374A TCGA-W5-AA2U-01A-11D-A417-09 NTRK3 15 88690583 88690583 + Silent SNP C A g.chr15:88690583C>A c.447G>T p.T149T TCGA-ZH-A8Y6-01A-11D-A417-09 NUB1 7 151072981 151072981 + Silent SNP T A g.chr7:151072981T>A c.1443T>A p.P481P TCGA-W5-AA39-01A-11D-A417-09 NUDT10 23 51076024 51076024 + Silent SNP G A g.chrX:51076024G>A c.207G>A p.E69E TCGA-W5-AA2H-01A-31D-A417-09 NUDT10 23 51076024 51076024 + Silent SNP G A g.chrX:51076024G>A c.207G>A p.E69E TCGA-W5-AA2Z-01A-11D-A417-09 NUDT10 23 51076024 51076024 + Silent SNP G A g.chrX:51076024G>A c.207G>A p.E69E TCGA-ZD-A8I3-01A-11D-A417-09 NUDT10 23 51076024 51076024 + Silent SNP G A g.chrX:51076024G>A c.207G>A p.E69E TCGA-ZU-A8S4-01A-11D-A417-09 NUDT22 11 63994325 63994325 + Silent SNP C G g.chr11:63994325C>G c.201C>G p.T67T TCGA-W5-AA39-01A-11D-A417-09 NUFIP1 13 45563441 45563441 + Missense_Mutation SNP G A g.chr13:45563441G>A c.131C>T p.P44L TCGA-ZH-A8Y8-01A-51D-A417-09 NUFIP2 17 27614321 27614321 + Missense_Mutation SNP C T g.chr17:27614321C>T c.691G>A p.A231T TCGA-W5-AA2X-01A-11D-A417-09 NUMBL 19 41183174 41183174 + Silent SNP C T g.chr19:41183174C>T c.693G>A p.G231G TCGA-3X-AAV9-01A-72D-A417-09 NUP205 7 135286256 135286256 + Splice_Site SNP G T g.chr7:135286256G>T TCGA-W5-AA2G-01A-11D-A417-09 NUP210 3 13383292 13383292 + Missense_Mutation SNP T G g.chr3:13383292T>G c.3184A>C p.N1062H TCGA-4G-AAZT-01A-11D-A417-09 NUP210L 1 153994676 153994676 + Missense_Mutation SNP G A g.chr1:153994676G>A c.4442C>T p.A1481V TCGA-W5-AA2R-01A-11D-A417-09 NUP210L 1 153967582 153967582 + Missense_Mutation SNP C T g.chr1:153967582C>T c.5461G>A p.V1821M TCGA-W5-AA2X-01A-11D-A417-09 NUP210L 1 153965494 153965494 + Missense_Mutation SNP G T g.chr1:153965494G>T c.5563C>A p.P1855T TCGA-W5-AA38-01A-11D-A417-09 NUP50 22 45574136 45574136 + Missense_Mutation SNP G T g.chr22:45574136G>T c.358G>T p.G120C TCGA-W5-AA33-01A-11D-A417-09 NUP98 11 3774554 3774554 + Missense_Mutation SNP A C g.chr11:3774554A>C c.1259T>G p.F420C TCGA-W5-AA39-01A-11D-A417-09 NUP98 11 3774605 3774605 + Missense_Mutation SNP A C g.chr11:3774605A>C c.1208T>G p.F403C TCGA-W5-AA39-01A-11D-A417-09 NVL 1 224477340 224477340 + Missense_Mutation SNP A G g.chr1:224477340A>G c.1421T>C p.L474P TCGA-W5-AA39-01A-11D-A417-09 NXF5 23 101096287 101096287 + Missense_Mutation SNP G A g.chrX:101096287G>A c.337C>T p.R113W TCGA-W5-AA2G-01A-11D-A417-09 NXPH4 12 57619423 57619423 + Missense_Mutation SNP T G g.chr12:57619423T>G c.820T>G p.F274V TCGA-W5-AA39-01A-11D-A417-09 OBSCN 1 228503595 228503595 + Missense_Mutation SNP G T g.chr1:228503595G>T c.13060G>T p.G4354C TCGA-4G-AAZT-01A-11D-A417-09 OBSCN 1 228444441 228444441 + Missense_Mutation SNP G A g.chr1:228444441G>A c.4399G>A p.A1467T TCGA-W5-AA2X-01A-11D-A417-09 OBSCN 1 228433225 228433225 + Missense_Mutation SNP C T g.chr1:228433225C>T c.3593C>T p.T1198M TCGA-W5-AA38-01A-11D-A417-09 OBSCN 1 228480450 228480450 + Silent SNP C T g.chr1:228480450C>T c.10830C>T p.C3610C TCGA-W5-AA38-01A-11D-A417-09 OC90 8 133044207 133044207 + Silent SNP G T g.chr8:133044207G>T c.1000C>A p.R334R TCGA-W5-AA2U-01A-11D-A417-09 OCRL 23 128724136 128724136 + Silent SNP T G g.chrX:128724136T>G c.2595T>G p.T865T TCGA-W5-AA39-01A-11D-A417-09 ODF1 8 103564207 103564207 + Silent SNP A G g.chr8:103564207A>G c.252A>G p.R84R TCGA-ZH-A8Y6-01A-11D-A417-09 ODF2 9 131256844 131256844 + Missense_Mutation SNP T G g.chr9:131256844T>G c.1808T>G p.L603R TCGA-W5-AA39-01A-11D-A417-09 ODF2 9 131256878 131256878 + Silent SNP A G g.chr9:131256878A>G c.1842A>G p.Q614Q TCGA-W5-AA39-01A-11D-A417-09 ODF2 9 131256884 131256884 + Missense_Mutation SNP A C g.chr9:131256884A>C c.1848A>C p.Q616H TCGA-W5-AA39-01A-11D-A417-09 ODF2 9 131256904 131256904 + Missense_Mutation SNP A C g.chr9:131256904A>C c.1868A>C p.K623T TCGA-W5-AA39-01A-11D-A417-09 ODZ1 23 123839042 123839042 + Missense_Mutation SNP T C g.chrX:123839042T>C c.836A>G p.N279S TCGA-W5-AA33-01A-11D-A417-09 ODZ1 23 123805577 123805577 + Missense_Mutation SNP T G g.chrX:123805577T>G c.1124A>C p.Y375S TCGA-W5-AA39-01A-11D-A417-09 ODZ2 5 167675119 167675119 + Missense_Mutation SNP C T g.chr5:167675119C>T c.7175C>T p.T2392M TCGA-3X-AAV9-01A-72D-A417-09 ODZ2 5 167674541 167674541 + Silent SNP G A g.chr5:167674541G>A c.6597G>A p.T2199T TCGA-W5-AA33-01A-11D-A417-09 ODZ2 5 167671562 167671562 + Silent SNP C T g.chr5:167671562C>T c.5658C>T p.S1886S TCGA-W5-AA39-01A-11D-A417-09 ODZ2 5 167675132 167675132 + Missense_Mutation SNP G T g.chr5:167675132G>T c.7188G>T p.E2396D TCGA-ZH-A8Y8-01A-51D-A417-09 ODZ3 4 183714515 183714515 + Silent SNP C T g.chr4:183714515C>T c.6690C>T p.D2230D TCGA-ZH-A8Y6-01A-11D-A417-09 ODZ4 11 78498091 78498091 + Silent SNP G A g.chr11:78498091G>A c.2217C>T p.C739C TCGA-W5-AA2U-01A-11D-A417-09 ODZ4 11 78449511 78449511 + Missense_Mutation SNP C T g.chr11:78449511C>T c.2861G>A p.S954N TCGA-W5-AA2W-01A-11D-A417-09 OGDH 7 44737336 44737336 + Silent SNP G A g.chr7:44737336G>A c.2313G>A p.R771R TCGA-W5-AA38-01A-11D-A417-09 OGDHL 10 50960205 50960205 + Missense_Mutation SNP G T g.chr10:50960205G>T c.568C>A p.L190M TCGA-W5-AA31-01A-11D-A417-09 OGFOD1 16 56487225 56487225 + Missense_Mutation SNP T A g.chr16:56487225T>A c.205T>A p.F69I TCGA-W5-AA39-01A-11D-A417-09 OGFR 20 61444660 61444660 + Missense_Mutation SNP C A g.chr20:61444660C>A c.1693C>A p.R565S TCGA-ZH-A8Y6-01A-11D-A417-09 OLFM2 19 10047006 10047006 + Frame_Shift_Del DEL G - g.chr19:10047006delG c.37delC p.L14fs TCGA-ZH-A8Y6-01A-11D-A417-09 OLFM3 1 102269800 102269800 + Missense_Mutation SNP G T g.chr1:102269800G>T c.1431C>A p.D477E TCGA-W5-AA2R-01A-11D-A417-09 OLFM3 1 102269877 102269877 + Missense_Mutation SNP C T g.chr1:102269877C>T c.1354G>A p.A452T TCGA-W5-AA30-01A-31D-A417-09 OLFM3 1 102290693 102290693 + Missense_Mutation SNP A G g.chr1:102290693A>G c.541T>C p.S181P TCGA-ZH-A8Y8-01A-51D-A417-09 OLFM4 13 53624252 53624252 + Missense_Mutation SNP G T g.chr13:53624252G>T c.879G>T p.L293F TCGA-ZD-A8I3-01A-11D-A417-09 ONECUT2 18 55103945 55103947 + In_Frame_Del DEL ATC - g.chr18:55103945_55103947delATC c.997_999delATC p.I333del TCGA-3X-AAVC-01A-21D-A417-09 OPA1 3 193372782 193372782 + Nonsense_Mutation SNP G A g.chr3:193372782G>A c.1979G>A p.W660* TCGA-4G-AAZO-01A-12D-A417-09 OPRD1 1 29189631 29189631 + Missense_Mutation SNP G A g.chr1:29189631G>A c.955G>A p.A319T TCGA-W5-AA2T-01A-12D-A417-09 OPRK1 8 54142028 54142028 + Missense_Mutation SNP G T g.chr8:54142028G>T c.972C>A p.S324R TCGA-4G-AAZO-01A-12D-A417-09 OPRL1 20 62724277 62724277 + Silent SNP G C g.chr20:62724277G>C c.204G>C p.G68G TCGA-W5-AA2Q-01A-11D-A417-09 OPRM1 6 154360621 154360621 + 5'UTR SNP G A g.chr6:154360621G>A TCGA-W5-AA30-01A-31D-A417-09 OR10AG1 11 55735485 55735485 + Missense_Mutation SNP C T g.chr11:55735485C>T c.455G>A p.C152Y TCGA-ZU-A8S4-01A-11D-A417-09 OR10G3 14 22038258 22038258 + Silent SNP C A g.chr14:22038258C>A c.618G>T p.V206V TCGA-W5-AA34-01A-11D-A417-09 OR10G9 11 123893737 123893737 + Silent SNP C A g.chr11:123893737C>A c.18C>A p.L6L TCGA-W5-AA2X-01A-11D-A417-09 OR10H1 19 15918259 15918259 + Missense_Mutation SNP C T g.chr19:15918259C>T c.589G>A p.A197T TCGA-3X-AAVE-01A-11D-A417-09 OR10H1 19 15918728 15918728 + Silent SNP C A g.chr19:15918728C>A c.120G>T p.L40L TCGA-4G-AAZO-01A-12D-A417-09 OR10H4 19 16060302 16060302 + Missense_Mutation SNP C T g.chr19:16060302C>T c.485C>T p.T162M TCGA-W5-AA2G-01A-11D-A417-09 OR10H4 19 16060516 16060516 + Silent SNP C T g.chr19:16060516C>T c.699C>T p.A233A TCGA-W5-AA31-01A-11D-A417-09 OR10X1 1 158549641 158549641 + Missense_Mutation SNP T A g.chr1:158549641T>A c.49A>T p.T17S TCGA-W5-AA34-01A-11D-A417-09 OR13F1 9 107267255 107267255 + Missense_Mutation SNP T C g.chr9:107267255T>C c.712T>C p.F238L TCGA-4G-AAZT-01A-11D-A417-09 OR13H1 23 130678378 130678378 + Nonsense_Mutation SNP G T g.chrX:130678378G>T c.331G>T p.E111* TCGA-W5-AA2G-01A-11D-A417-09 OR1B1 9 125391702 125391702 + Missense_Mutation SNP A C g.chr9:125391702A>C c.113T>G p.L38R TCGA-W5-AA2O-01A-11D-A417-09 OR1C1 1 247920861 247920861 + Missense_Mutation SNP G A g.chr1:247920861G>A c.848C>T p.P283L TCGA-W5-AA33-01A-11D-A417-09 OR1S1 11 57982413 57982413 + Missense_Mutation SNP C T g.chr11:57982413C>T c.197C>T p.T66M TCGA-3X-AAVC-01A-21D-A417-09 OR2A12 7 143792858 143792858 + Missense_Mutation SNP A T g.chr7:143792858A>T c.658A>T p.I220F TCGA-W5-AA31-01A-11D-A417-09 OR2A2 7 143807373 143807373 + Missense_Mutation SNP G A g.chr7:143807373G>A c.698G>A p.R233H TCGA-W5-AA39-01A-11D-A417-09 OR2A5 7 143748127 143748127 + Silent SNP C A g.chr7:143748127C>A c.633C>A p.L211L TCGA-4G-AAZO-01A-12D-A417-09 OR2AG1 11 6806283 6806283 + Missense_Mutation SNP C A g.chr11:6806283C>A c.15C>A p.N5K TCGA-ZH-A8Y8-01A-51D-A417-09 OR2D3 11 6943064 6943064 + Missense_Mutation SNP C T g.chr11:6943064C>T c.832C>T p.P278S TCGA-W5-AA39-01A-11D-A417-09 OR2D3 11 6942250 6942250 + Missense_Mutation SNP G T g.chr11:6942250G>T c.18G>T p.L6F TCGA-ZH-A8Y8-01A-51D-A417-09 OR2G2 1 247752208 247752208 + Nonsense_Mutation SNP G T g.chr1:247752208G>T c.547G>T p.E183* TCGA-4G-AAZT-01A-11D-A417-09 OR2G3 1 247769640 247769640 + Missense_Mutation SNP C A g.chr1:247769640C>A c.753C>A p.F251L TCGA-ZH-A8Y2-01A-11D-A417-09 OR2J3 6 29080455 29080455 + Missense_Mutation SNP T G g.chr6:29080455T>G c.788T>G p.L263R TCGA-W5-AA2U-01A-11D-A417-09 OR2L13 1 248263072 248263072 + Missense_Mutation SNP C T g.chr1:248263072C>T c.395C>T p.P132L TCGA-W5-AA2W-01A-11D-A417-09 OR2L2 1 248202347 248202347 + Missense_Mutation SNP C T g.chr1:248202347C>T c.778C>T p.R260C TCGA-W5-AA39-01A-11D-A417-09 OR2L2 1 248202088 248202088 + Silent SNP C T g.chr1:248202088C>T c.519C>T p.I173I TCGA-ZU-A8S4-01A-11D-A417-09 OR2L8 1 248112794 248112794 + Missense_Mutation SNP G C g.chr1:248112794G>C c.635G>C p.G212A TCGA-3X-AAVB-01A-31D-A417-09 OR2L8 1 248112794 248112794 + Missense_Mutation SNP G C g.chr1:248112794G>C c.635G>C p.G212A TCGA-W5-AA30-01A-31D-A417-09 OR2M2 1 248344069 248344069 + Missense_Mutation SNP G T g.chr1:248344069G>T c.782G>T p.R261L TCGA-W5-AA2H-01A-31D-A417-09 OR2T12 1 248458309 248458309 + Missense_Mutation SNP G A g.chr1:248458309G>A c.572C>T p.S191L TCGA-3X-AAV9-01A-72D-A417-09 OR2T12 1 248458419 248458419 + Silent SNP G C g.chr1:248458419G>C c.462C>G p.G154G TCGA-W5-AA2O-01A-11D-A417-09 OR2T33 1 248436878 248436878 + Missense_Mutation SNP G A g.chr1:248436878G>A c.239C>T p.A80V TCGA-W5-AA38-01A-11D-A417-09 OR2T33 1 248436680 248436680 + Missense_Mutation SNP C G g.chr1:248436680C>G c.437G>C p.C146S TCGA-ZU-A8S4-01A-11D-A417-09 OR2T33 1 248436682 248436682 + Silent SNP C T g.chr1:248436682C>T c.435G>A p.S145S TCGA-ZU-A8S4-01A-11D-A417-09 OR4B1 11 48238420 48238420 + Missense_Mutation SNP C T g.chr11:48238420C>T c.59C>T p.A20V TCGA-W5-AA2W-01A-11D-A417-09 OR4C13 11 49974531 49974531 + Missense_Mutation SNP C A g.chr11:49974531C>A c.557C>A p.A186D TCGA-W5-AA2R-01A-11D-A417-09 OR4C15 11 55321858 55321858 + Missense_Mutation SNP C A g.chr11:55321858C>A c.76C>A p.Q26K TCGA-W5-AA2R-01A-11D-A417-09 OR4D2 17 56247070 56247070 + Silent SNP G A g.chr17:56247070G>A c.54G>A p.S18S TCGA-W5-AA30-01A-31D-A417-09 OR4D2 17 56247705 56247705 + Missense_Mutation SNP G T g.chr17:56247705G>T c.689G>T p.G230V TCGA-W5-AA34-01A-11D-A417-09 OR4K1 14 20404579 20404579 + Missense_Mutation SNP G T g.chr14:20404579G>T c.754G>T p.G252W TCGA-W5-AA2X-01A-11D-A417-09 OR4K2 14 20344676 20344676 + Missense_Mutation SNP G T g.chr14:20344676G>T c.250G>T p.D84Y TCGA-W5-AA2Q-01A-11D-A417-09 OR4M1 14 20248958 20248958 + Missense_Mutation SNP G T g.chr14:20248958G>T c.477G>T p.Q159H TCGA-W5-AA33-01A-11D-A417-09 OR4N2 14 20295956 20295956 + Missense_Mutation SNP G T g.chr14:20295956G>T c.349G>T p.V117L TCGA-W5-AA39-01A-11D-A417-09 OR4Q3 14 20216038 20216038 + Missense_Mutation SNP G T g.chr14:20216038G>T c.452G>T p.C151F TCGA-W5-AA2I-01A-32D-A417-09 OR4Q3 14 20216384 20216384 + Missense_Mutation SNP C G g.chr14:20216384C>G c.798C>G p.F266L TCGA-W5-AA39-01A-11D-A417-09 OR4X1 11 48285986 48285986 + Missense_Mutation SNP T A g.chr11:48285986T>A c.574T>A p.F192I TCGA-WD-A7RX-01A-12D-A417-09 OR51A4 11 4967834 4967834 + Missense_Mutation SNP C G g.chr11:4967834C>G c.497G>C p.R166T TCGA-3X-AAV9-01A-72D-A417-09 OR51A4 11 4967989 4967989 + Silent SNP G T g.chr11:4967989G>T c.342C>A p.S114S TCGA-3X-AAVE-01A-11D-A417-09 OR51F2 11 4842747 4842747 + Silent SNP T C g.chr11:4842747T>C c.132T>C p.P44P TCGA-ZH-A8Y8-01A-51D-A417-09 OR51I1 11 5462013 5462013 + Missense_Mutation SNP C A g.chr11:5462013C>A c.732G>T p.M244I TCGA-ZD-A8I3-01A-11D-A417-09 OR51S1 11 4870320 4870320 + Missense_Mutation SNP A C g.chr11:4870320A>C c.119T>G p.I40S TCGA-W5-AA39-01A-11D-A417-09 OR52E8 11 5878458 5878458 + Silent SNP G A g.chr11:5878458G>A c.475C>T p.L159L TCGA-W5-AA2Q-01A-11D-A417-09 OR52E8 11 5878458 5878458 + Silent SNP G A g.chr11:5878458G>A c.475C>T p.L159L TCGA-W5-AA2X-01A-11D-A417-09 OR52E8 11 5878458 5878458 + Silent SNP G A g.chr11:5878458G>A c.475C>T p.L159L TCGA-W5-AA30-01A-31D-A417-09 OR52E8 11 5878458 5878458 + Silent SNP G A g.chr11:5878458G>A c.475C>T p.L159L TCGA-ZH-A8Y1-01A-11D-A417-09 OR52I1 11 4615690 4615690 + Missense_Mutation SNP C A g.chr11:4615690C>A c.422C>A p.T141K TCGA-W5-AA2X-01A-11D-A417-09 OR56A5 11 5989177 5989177 + IGR SNP G A g.chr11:5989177G>A TCGA-W5-AA34-01A-11D-A417-09 OR5AC2 3 97806872 97806872 + Missense_Mutation SNP C A g.chr3:97806872C>A c.856C>A p.L286M TCGA-4G-AAZO-01A-12D-A417-09 OR5AN1 11 59132147 59132147 + Silent SNP C G g.chr11:59132147C>G c.216C>G p.V72V TCGA-W5-AA38-01A-11D-A417-09 OR5AN1 11 59132169 59132169 + Missense_Mutation SNP C T g.chr11:59132169C>T c.238C>T p.P80S TCGA-WD-A7RX-01A-12D-A417-09 OR5D14 11 55563503 55563503 + Missense_Mutation SNP C T g.chr11:55563503C>T c.472C>T p.P158S TCGA-W5-AA2R-01A-11D-A417-09 OR5D16 11 55606662 55606662 + Missense_Mutation SNP G A g.chr11:55606662G>A c.435G>A p.M145I TCGA-3X-AAVE-01A-11D-A417-09 OR5H14 3 97868425 97868425 + Missense_Mutation SNP T G g.chr3:97868425T>G c.196T>G p.L66V TCGA-W5-AA39-01A-11D-A417-09 OR5H6 3 97983496 97983496 + Missense_Mutation SNP C T g.chr3:97983496C>T c.368C>T p.T123I TCGA-W5-AA2I-01A-32D-A417-09 OR5I1 11 55703319 55703319 + Silent SNP C T g.chr11:55703319C>T c.558G>A p.L186L TCGA-4G-AAZO-01A-12D-A417-09 OR5I1 11 55703506 55703506 + Missense_Mutation SNP C T g.chr11:55703506C>T c.371G>A p.R124H TCGA-ZU-A8S4-01A-11D-A417-09 OR5L2 11 55595251 55595251 + Missense_Mutation SNP G A g.chr11:55595251G>A c.557G>A p.S186N TCGA-ZH-A8Y1-01A-11D-A417-09 OR5M11 11 56309838 56309838 + Missense_Mutation SNP G T g.chr11:56309838G>T c.896C>A p.A299D TCGA-W5-AA31-01A-11D-A417-09 OR5P2 11 7818383 7818383 + Missense_Mutation SNP G C g.chr11:7818383G>C c.107C>G p.S36C TCGA-ZH-A8Y2-01A-11D-A417-09 OR6B1 7 143701151 143701151 + Missense_Mutation SNP T C g.chr7:143701151T>C c.62T>C p.L21S TCGA-ZH-A8Y4-01A-11D-A417-09 OR6B3 2 240984497 240984497 + Silent SNP G T g.chr2:240984497G>T c.993C>A p.L331L TCGA-W5-AA34-01A-11D-A417-09 OR6C2 12 55846882 55846882 + Silent SNP G T g.chr12:55846882G>T c.885G>T p.V295V TCGA-W5-AA38-01A-11D-A417-09 OR6C3 12 55725675 55725675 + Missense_Mutation SNP C A g.chr12:55725675C>A c.191C>A p.S64Y TCGA-W5-AA2O-01A-11D-A417-09 OR6C4 12 55945614 55945614 + Missense_Mutation SNP G A g.chr12:55945614G>A c.604G>A p.V202I TCGA-ZD-A8I3-01A-11D-A417-09 OR6F1 1 247875415 247875415 + Missense_Mutation SNP A C g.chr1:247875415A>C c.643T>G p.F215V TCGA-W5-AA2R-01A-11D-A417-09 OR6V1 7 142749878 142749878 + Nonsense_Mutation SNP G A g.chr7:142749878G>A c.441G>A p.W147* TCGA-W5-AA39-01A-11D-A417-09 OR6X1 11 123624820 123624820 + Missense_Mutation SNP C T g.chr11:123624820C>T c.407G>A p.S136N TCGA-W5-AA31-01A-11D-A417-09 OR7A5 19 14938184 14938184 + Silent SNP A G g.chr19:14938184A>G c.870T>C p.Y290Y TCGA-3X-AAV9-01A-72D-A417-09 OR8B3 11 124266927 124266927 + Silent SNP A G g.chr11:124266927A>G c.321T>C p.F107F TCGA-W6-AA0S-01A-11D-A417-09 OR8B3 11 124266860 124266860 + Silent SNP A G g.chr11:124266860A>G c.388T>C p.L130L TCGA-ZH-A8Y4-01A-11D-A417-09 OR8B8 11 124310958 124310958 + Missense_Mutation SNP G C g.chr11:124310958G>C c.24C>G p.F8L TCGA-W5-AA30-01A-31D-A417-09 OR8K3 11 56086147 56086147 + Missense_Mutation SNP G A g.chr11:56086147G>A c.365G>A p.R122H TCGA-ZD-A8I3-01A-11D-A417-09 OR8K3 11 56086520 56086520 + Silent SNP G A g.chr11:56086520G>A c.738G>A p.V246V TCGA-ZH-A8Y6-01A-11D-A417-09 OR9I1 11 57886193 57886193 + Missense_Mutation SNP C T g.chr11:57886193C>T c.724G>A p.A242T TCGA-3X-AAVC-01A-21D-A417-09 ORAI1 12 122079347 122079347 + Missense_Mutation SNP C T g.chr12:122079347C>T c.710C>T p.A237V TCGA-4G-AAZT-01A-11D-A417-09 ORC1L 1 52840513 52840513 + Missense_Mutation SNP C A g.chr1:52840513C>A c.2360G>T p.R787L TCGA-ZD-A8I3-01A-11D-A417-09 ORM1 9 117086362 117086362 + Missense_Mutation SNP A G g.chr9:117086362A>G c.322A>G p.R108G TCGA-W5-AA39-01A-11D-A417-09 OSBP 11 59361134 59361134 + Missense_Mutation SNP G T g.chr11:59361134G>T c.1621C>A p.Q541K TCGA-W5-AA2R-01A-11D-A417-09 OSBP 11 59369134 59369134 + Missense_Mutation SNP C G g.chr11:59369134C>G c.1000G>C p.G334R TCGA-W5-AA31-01A-11D-A417-09 OSBP 11 59376002 59376002 + Missense_Mutation SNP G T g.chr11:59376002G>T c.777C>A p.N259K TCGA-W5-AA34-01A-11D-A417-09 OSBPL3 7 24849546 24849546 + Missense_Mutation SNP G T g.chr7:24849546G>T c.2197C>A p.H733N TCGA-W6-AA0S-01A-11D-A417-09 OSGIN1 16 83998838 83998838 + Missense_Mutation SNP C A g.chr16:83998838C>A c.909C>A p.F303L TCGA-ZH-A8Y6-01A-11D-A417-09 OSGIN2 8 90937735 90937735 + Missense_Mutation SNP G T g.chr8:90937735G>T c.1493G>T p.R498I TCGA-W5-AA2W-01A-11D-A417-09 OTOF 2 26712145 26712145 + Missense_Mutation SNP G T g.chr2:26712145G>T c.979C>A p.L327M TCGA-W5-AA30-01A-31D-A417-09 OTOF 2 26693554 26693556 + In_Frame_Del DEL CTT - g.chr2:26693554_26693556delCTT c.3928_3930delAAG p.K1310del TCGA-W5-AA33-01A-11D-A417-09 OTOP1 4 4228425 4228425 + Missense_Mutation SNP T C g.chr4:4228425T>C c.167A>G p.K56R TCGA-W5-AA2R-01A-11D-A417-09 OTOP1 4 4204211 4204211 + Missense_Mutation SNP G A g.chr4:4204211G>A c.694C>T p.R232W TCGA-W5-AA34-01A-11D-A417-09 OTOP1 4 4199570 4199570 + Missense_Mutation SNP C T g.chr4:4199570C>T c.991G>A p.V331I TCGA-ZH-A8Y1-01A-11D-A417-09 OTOP1 4 4204211 4204211 + Missense_Mutation SNP G A g.chr4:4204211G>A c.694C>T p.R232W TCGA-ZH-A8Y4-01A-11D-A417-09 OTUD4 4 146065546 146065546 + Missense_Mutation SNP G T g.chr4:146065546G>T c.1463C>A p.P488Q TCGA-W5-AA2X-01A-11D-A417-09 OTUD5 23 48801512 48801512 + Missense_Mutation SNP G T g.chrX:48801512G>T c.627C>A p.D209E TCGA-W5-AA2W-01A-11D-A417-09 OTUD6B 8 92096314 92096314 + Nonsense_Mutation SNP G T g.chr8:92096314G>T c.859G>T p.E287* TCGA-3X-AAVB-01A-31D-A417-09 OTUD7A 15 31794022 31794022 + Missense_Mutation SNP C T g.chr15:31794022C>T c.1021G>A p.G341R TCGA-3X-AAVE-01A-11D-A417-09 OTX2 14 57269033 57269033 + Missense_Mutation SNP T A g.chr14:57269033T>A c.290A>T p.Q97L TCGA-3X-AAV9-01A-72D-A417-09 OTX2 14 57268926 57268926 + Missense_Mutation SNP G A g.chr14:57268926G>A c.397C>T p.P133S TCGA-W5-AA31-01A-11D-A417-09 OVCH1 12 29639246 29639246 + Missense_Mutation SNP A C g.chr12:29639246A>C c.928T>G p.S310A TCGA-W5-AA39-01A-11D-A417-09 P4HA2 5 131531134 131531134 + Missense_Mutation SNP C A g.chr5:131531134C>A c.1411G>T p.D471Y TCGA-W5-AA2X-01A-11D-A417-09 P4HA2 5 131530672 131530672 + Frame_Shift_Del DEL C - g.chr5:131530672delC c.1484delG p.G495fs TCGA-W5-AA39-01A-11D-A417-09 PA2G4 12 56503676 56503676 + Missense_Mutation SNP G T g.chr12:56503676G>T c.586G>T p.D196Y TCGA-3X-AAVE-01A-11D-A417-09 PABPC3 13 25671267 25671267 + Missense_Mutation SNP C T g.chr13:25671267C>T c.931C>T p.R311W TCGA-W5-AA30-01A-31D-A417-09 PABPC3 13 25671456 25671456 + Missense_Mutation SNP C T g.chr13:25671456C>T c.1120C>T p.R374C TCGA-ZH-A8Y5-01A-11D-A417-09 PABPN1L 16 88930645 88930645 + Splice_Site SNP C T g.chr16:88930645C>T c.797G>A p.R266Q TCGA-W6-AA0S-01A-11D-A417-09 PACS1 11 65978677 65978677 + Missense_Mutation SNP C T g.chr11:65978677C>T c.607C>T p.R203W TCGA-3X-AAVC-01A-21D-A417-09 PADI2 1 17422416 17422416 + Missense_Mutation SNP G T g.chr1:17422416G>T c.399C>A p.N133K TCGA-ZH-A8Y8-01A-51D-A417-09 PAFAH1B1 17 2570445 2570445 + Missense_Mutation SNP C T g.chr17:2570445C>T c.352C>T p.P118S TCGA-3X-AAVC-01A-21D-A417-09 PAFAH1B2 11 117030734 117030734 + Missense_Mutation SNP T G g.chr11:117030734T>G c.166T>G p.Y56D TCGA-W5-AA39-01A-11D-A417-09 PAFAH1B2 11 117023206 117023206 + Missense_Mutation SNP G A g.chr11:117023206G>A c.43G>A p.A15T TCGA-ZD-A8I3-01A-11D-A417-09 PAGE1 23 49458702 49458702 + Splice_Site SNP C A g.chrX:49458702C>A c.166G>T p.G56W TCGA-3X-AAVC-01A-21D-A417-09 PAGE2B 23 55102523 55102523 + Missense_Mutation SNP G A g.chrX:55102523G>A c.49G>A p.D17N TCGA-ZH-A8Y2-01A-11D-A417-09 PAIP2 5 138700372 138700372 + Missense_Mutation SNP A C g.chr5:138700372A>C c.258A>C p.Q86H TCGA-W5-AA39-01A-11D-A417-09 PAIP2 5 138700374 138700374 + Missense_Mutation SNP T G g.chr5:138700374T>G c.260T>G p.I87S TCGA-W5-AA39-01A-11D-A417-09 PALLD 4 169824935 169824935 + Missense_Mutation SNP A G g.chr4:169824935A>G c.2500A>G p.I834V TCGA-W5-AA39-01A-11D-A417-09 PALMD 1 100152323 100152323 + Missense_Mutation SNP C T g.chr1:100152323C>T c.343C>T p.R115W TCGA-W5-AA2W-01A-11D-A417-09 PANX1 11 93886741 93886741 + Missense_Mutation SNP A T g.chr11:93886741A>T c.266A>T p.Q89L TCGA-W5-AA39-01A-11D-A417-09 PAOX 10 135193724 135193724 + Missense_Mutation SNP T C g.chr10:135193724T>C c.403T>C p.Y135H TCGA-W5-AA39-01A-11D-A417-09 PAPD5 16 50248133 50248133 + Splice_Site SNP T A g.chr16:50248133T>A c.518T>A p.V173D TCGA-W5-AA39-01A-11D-A417-09 PAPPA2 1 176759060 176759060 + Missense_Mutation SNP G T g.chr1:176759060G>T c.4831G>T p.G1611C TCGA-W5-AA2U-01A-11D-A417-09 PAPPA2 1 176811561 176811561 + Missense_Mutation SNP C G g.chr1:176811561C>G c.5347C>G p.R1783G TCGA-W5-AA39-01A-11D-A417-09 PAQR9 3 142681920 142681920 + Missense_Mutation SNP A C g.chr3:142681920A>C c.259T>G p.F87V TCGA-W5-AA39-01A-11D-A417-09 PARD3 10 34671618 34671618 + Missense_Mutation SNP A C g.chr10:34671618A>C c.1249T>G p.S417A TCGA-ZH-A8Y8-01A-51D-A417-09 PARP10 8 145059959 145059959 + Silent SNP A C g.chr8:145059959A>C c.366T>G p.P122P TCGA-W5-AA39-01A-11D-A417-09 PARP2 14 20820419 20820419 + Silent SNP G T g.chr14:20820419G>T c.552G>T p.T184T TCGA-ZD-A8I3-01A-11D-A417-09 PARP4 13 25064843 25064843 + Missense_Mutation SNP G T g.chr13:25064843G>T c.1177C>A p.L393I TCGA-3X-AAVE-01A-11D-A417-09 PASK 2 242051786 242051786 + Silent SNP G A g.chr2:242051786G>A c.3402C>T p.I1134I TCGA-ZH-A8Y5-01A-11D-A417-09 PATL1 11 59418265 59418265 + Silent SNP G T g.chr11:59418265G>T c.1546C>A p.R516R TCGA-W5-AA2U-01A-11D-A417-09 PATZ1 22 31731753 31731753 + Missense_Mutation SNP G A g.chr22:31731753G>A c.1432C>T p.R478W TCGA-W5-AA2Z-01A-11D-A417-09 PAX3 2 223161877 223161877 + Missense_Mutation SNP G T g.chr2:223161877G>T c.141C>A p.N47K TCGA-4G-AAZT-01A-11D-A417-09 PAX4 7 127253566 127253566 + Missense_Mutation SNP G T g.chr7:127253566G>T c.559C>A p.P187T TCGA-W5-AA34-01A-11D-A417-09 PAX6 11 31823198 31823198 + Missense_Mutation SNP A G g.chr11:31823198A>G c.268T>C p.Y90H TCGA-4G-AAZO-01A-12D-A417-09 PAX8 2 113993051 113993051 + Missense_Mutation SNP C T g.chr2:113993051C>T c.1007G>A p.G336D TCGA-W5-AA2X-01A-11D-A417-09 PAX8 2 114002103 114002103 + Missense_Mutation SNP C T g.chr2:114002103C>T c.290G>A p.R97H TCGA-W5-AA39-01A-11D-A417-09 PAXIP1 7 154753289 154753289 + Missense_Mutation SNP C T g.chr7:154753289C>T c.2197G>A p.A733T TCGA-W5-AA2G-01A-11D-A417-09 PAXIP1 7 154767932 154767932 + Missense_Mutation SNP G T g.chr7:154767932G>T c.548C>A p.P183H TCGA-W5-AA2W-01A-11D-A417-09 PAXIP1 7 154785435 154785435 + Splice_Site SNP C T g.chr7:154785435C>T TCGA-W5-AA2X-01A-11D-A417-09 PAXIP1 7 154760124 154760124 + Missense_Mutation SNP G A g.chr7:154760124G>A c.1787C>T p.P596L TCGA-ZH-A8Y4-01A-11D-A417-09 PBK 8 27690596 27690596 + Missense_Mutation SNP T A g.chr8:27690596T>A c.35A>T p.K12I TCGA-3X-AAV9-01A-72D-A417-09 PBRM1 3 52668817 52668817 + Nonsense_Mutation SNP C A g.chr3:52668817C>A c.1102G>T p.E368* TCGA-4G-AAZO-01A-12D-A417-09 PBRM1 3 52651496 52651496 + Nonsense_Mutation SNP G A g.chr3:52651496G>A c.1600C>T p.R534* TCGA-4G-AAZT-01A-11D-A417-09 PBRM1 3 52621438 52621439 + In_Frame_Ins INS - AAT g.chr3:52621438_52621439insAAT c.3053_3054insATT p.1017_1018insL TCGA-W5-AA2I-01A-32D-A417-09 PBRM1 3 52651334 52651334 + Nonsense_Mutation SNP C A g.chr3:52651334C>A c.1762G>T p.E588* TCGA-W5-AA30-01A-31D-A417-09 PBRM1 3 52661362 52661362 + Nonsense_Mutation SNP T A g.chr3:52661362T>A c.1468A>T p.R490* TCGA-W5-AA38-01A-11D-A417-09 PBRM1 3 52712524 52712533 + Frame_Shift_Del DEL TGGTGCCCTA - g.chr3:52712524_52712533delTGGTGCCCTA c.219_228delTAGGGCACCA p.IRAP73fs TCGA-W5-AA39-01A-11D-A417-09 PBRM1 3 52678790 52678790 + Nonsense_Mutation SNP T A g.chr3:52678790T>A c.829A>T p.K277* TCGA-ZH-A8Y1-01A-11D-A417-09 PBRM1 3 52662939 52662939 + Nonsense_Mutation SNP G A g.chr3:52662939G>A c.1414C>T p.R472* TCGA-ZH-A8Y4-01A-11D-A417-09 PC 11 66639209 66639209 + Silent SNP C A g.chr11:66639209C>A c.270G>T p.L90L TCGA-4G-AAZO-01A-12D-A417-09 PCDH10 4 134071413 134071413 + Missense_Mutation SNP G C g.chr4:134071413G>C c.118G>C p.D40H TCGA-W5-AA38-01A-11D-A417-09 PCDH11X 23 91133148 91133148 + Missense_Mutation SNP G A g.chrX:91133148G>A c.1909G>A p.E637K TCGA-W5-AA2I-01A-32D-A417-09 PCDH15 10 55566583 55566583 + Missense_Mutation SNP G T g.chr10:55566583G>T c.4811C>A p.S1604Y TCGA-3X-AAVE-01A-11D-A417-09 PCDH15 10 55566478 55566478 + Missense_Mutation SNP G T g.chr10:55566478G>T c.4916C>A p.T1639K TCGA-ZH-A8Y4-01A-11D-A417-09 PCDH17 13 58207258 58207258 + Missense_Mutation SNP C A g.chr13:58207258C>A c.578C>A p.P193Q TCGA-W6-AA0S-01A-11D-A417-09 PCDH20 13 61986532 61986532 + Missense_Mutation SNP C T g.chr13:61986532C>T c.1700G>A p.R567K TCGA-3X-AAV9-01A-72D-A417-09 PCDH20 13 61985616 61985616 + Silent SNP G T g.chr13:61985616G>T c.2616C>A p.I872I TCGA-ZH-A8Y6-01A-11D-A417-09 PCDH7 4 30723183 30723183 + Missense_Mutation SNP C T g.chr4:30723183C>T c.139C>T p.R47C TCGA-W5-AA30-01A-31D-A417-09 PCDH7 4 30724013 30724013 + Frame_Shift_Del DEL G - g.chr4:30724013delG c.969delG p.P323fs TCGA-YR-A95A-01A-12D-A417-09 PCDHA11 5 140250727 140250727 + Missense_Mutation SNP G A g.chr5:140250727G>A c.2039G>A p.R680Q TCGA-W5-AA2U-01A-11D-A417-09 PCDHA4 5 140188641 140188641 + Silent SNP C T g.chr5:140188641C>T c.1869C>T p.R623R TCGA-4G-AAZT-01A-11D-A417-09 PCDHA4 5 140188703 140188703 + Missense_Mutation SNP G A g.chr5:140188703G>A c.1931G>A p.R644H TCGA-W5-AA31-01A-11D-A417-09 PCDHA5 5 140203213 140203213 + Missense_Mutation SNP G A g.chr5:140203213G>A c.1853G>A p.R618H TCGA-3X-AAVC-01A-21D-A417-09 PCDHA5 5 140202795 140202795 + Missense_Mutation SNP C T g.chr5:140202795C>T c.1435C>T p.R479W TCGA-W5-AA33-01A-11D-A417-09 PCDHA6 5 140209783 140209783 + Missense_Mutation SNP G A g.chr5:140209783G>A c.2107G>A p.A703T TCGA-3X-AAVA-01A-11D-A417-09 PCDHA9 5 140230059 140230059 + Missense_Mutation SNP C G g.chr5:140230059C>G c.1979C>G p.T660R TCGA-W5-AA31-01A-11D-A417-09 PCDHAC2 5 140347642 140347642 + Missense_Mutation SNP C T g.chr5:140347642C>T c.1291C>T p.R431W TCGA-W5-AA2G-01A-11D-A417-09 PCDHB15 5 140627110 140627110 + Missense_Mutation SNP C T g.chr5:140627110C>T c.1964C>T p.T655I TCGA-W5-AA2I-01A-32D-A417-09 PCDHB16 5 140563836 140563836 + Missense_Mutation SNP G A g.chr5:140563836G>A c.1702G>A p.G568S TCGA-ZU-A8S4-01A-11D-A417-09 PCDHB5 5 140517100 140517100 + Nonsense_Mutation SNP C A g.chr5:140517100C>A c.2084C>A p.S695* TCGA-W5-AA2I-01A-32D-A417-09 PCDHB5 5 140516886 140516886 + Missense_Mutation SNP C T g.chr5:140516886C>T c.1870C>T p.R624C TCGA-W5-AA30-01A-31D-A417-09 PCDHB6 5 140530549 140530549 + Silent SNP C T g.chr5:140530549C>T c.711C>T p.N237N TCGA-YR-A95A-01A-12D-A417-09 PCDHB7 5 140554443 140554443 + Missense_Mutation SNP C T g.chr5:140554443C>T c.2027C>T p.A676V TCGA-W5-AA39-01A-11D-A417-09 PCDHB8 5 140559572 140559572 + Missense_Mutation SNP T C g.chr5:140559572T>C c.1957T>C p.C653R TCGA-3X-AAV9-01A-72D-A417-09 PCDHB8 5 140559572 140559572 + Missense_Mutation SNP T C g.chr5:140559572T>C c.1957T>C p.C653R TCGA-ZH-A8Y1-01A-11D-A417-09 PCDHGA10 5 140795103 140795103 + Missense_Mutation SNP G T g.chr5:140795103G>T c.2361G>T p.E787D TCGA-ZH-A8Y6-01A-11D-A417-09 PCDHGA3 5 140725274 140725274 + Silent SNP C T g.chr5:140725274C>T c.1674C>T p.N558N TCGA-3X-AAVC-01A-21D-A417-09 PCDHGA3 5 140724331 140724331 + Missense_Mutation SNP A T g.chr5:140724331A>T c.731A>T p.Q244L TCGA-W5-AA39-01A-11D-A417-09 PCDHGA3 5 140725547 140725547 + Silent SNP C T g.chr5:140725547C>T c.1947C>T p.H649H TCGA-ZH-A8Y6-01A-11D-A417-09 PCDHGA4 5 140736182 140736182 + Missense_Mutation SNP T C g.chr5:140736182T>C c.1415T>C p.L472S TCGA-W5-AA39-01A-11D-A417-09 PCDHGA4 5 140735956 140735956 + Missense_Mutation SNP A G g.chr5:140735956A>G c.1189A>G p.T397A TCGA-ZU-A8S4-01A-11D-A417-09 PCDHGA6 5 140755037 140755037 + Missense_Mutation SNP G A g.chr5:140755037G>A c.1387G>A p.E463K TCGA-W5-AA39-01A-11D-A417-09 PCDHGA9 5 140783658 140783658 + Missense_Mutation SNP G C g.chr5:140783658G>C c.1139G>C p.G380A TCGA-W6-AA0S-01A-11D-A417-09 PCDHGB1 5 140730180 140730180 + Missense_Mutation SNP T C g.chr5:140730180T>C c.353T>C p.V118A TCGA-W5-AA39-01A-11D-A417-09 PCF11 11 82877696 82877696 + Missense_Mutation SNP A G g.chr11:82877696A>G c.1757A>G p.E586G TCGA-W5-AA39-01A-11D-A417-09 PCF11 11 82877699 82877699 + Missense_Mutation SNP A C g.chr11:82877699A>C c.1760A>C p.N587T TCGA-W5-AA39-01A-11D-A417-09 PCF11 11 82877706 82877707 + Missense_Mutation DNP AA CC g.chr11:82877706_82877707AA>CC c.1767_1768AA>CC p.589_590QS>HR TCGA-W5-AA39-01A-11D-A417-09 PCF11 11 82877714 82877714 + Missense_Mutation SNP A C g.chr11:82877714A>C c.1775A>C p.K592T TCGA-W5-AA39-01A-11D-A417-09 PCF11 11 82877732 82877732 + Missense_Mutation SNP A C g.chr11:82877732A>C c.1793A>C p.K598T TCGA-W5-AA39-01A-11D-A417-09 PCF11 11 82877755 82877755 + Splice_Site SNP A C g.chr11:82877755A>C c.1816A>C p.S606R TCGA-W5-AA39-01A-11D-A417-09 PCGF5 10 93021177 93021177 + Missense_Mutation SNP A G g.chr10:93021177A>G c.569A>G p.Y190C TCGA-W5-AA39-01A-11D-A417-09 PCLO 7 82595713 82595713 + Missense_Mutation SNP C G g.chr7:82595713C>G c.3391G>C p.G1131R TCGA-W5-AA2I-01A-32D-A417-09 PCLO 7 82545128 82545128 + Silent SNP T G g.chr7:82545128T>G c.12174A>C p.G4058G TCGA-ZH-A8Y1-01A-11D-A417-09 PCM1 8 17797227 17797227 + Missense_Mutation SNP G A g.chr8:17797227G>A c.640G>A p.D214N TCGA-3X-AAV9-01A-72D-A417-09 PCNT 21 47769730 47769730 + Missense_Mutation SNP T C g.chr21:47769730T>C c.1340T>C p.L447P TCGA-ZH-A8Y2-01A-11D-A417-09 PCNXL2 1 233275579 233275579 + Silent SNP G A g.chr1:233275579G>A c.3540C>T p.F1180F TCGA-W5-AA31-01A-11D-A417-09 PCNXL2 1 233270846 233270846 + Silent SNP G A g.chr1:233270846G>A c.3750C>T p.F1250F TCGA-ZH-A8Y6-01A-11D-A417-09 PCNXL3 11 65402529 65402529 + Missense_Mutation SNP G T g.chr11:65402529G>T c.4891G>T p.D1631Y TCGA-W5-AA30-01A-31D-A417-09 PCSK1 5 95746636 95746636 + Missense_Mutation SNP G T g.chr5:95746636G>T c.937C>A p.Q313K TCGA-ZH-A8Y6-01A-11D-A417-09 PCSK2 20 17462334 17462334 + Silent SNP G T g.chr20:17462334G>T c.1536G>T p.T512T TCGA-4G-AAZO-01A-12D-A417-09 PCSK2 20 17462329 17462329 + Missense_Mutation SNP A G g.chr20:17462329A>G c.1531A>G p.I511V TCGA-W5-AA2T-01A-12D-A417-09 PCSK2 20 17338992 17338992 + Missense_Mutation SNP G T g.chr20:17338992G>T c.303G>T p.Q101H TCGA-ZH-A8Y8-01A-51D-A417-09 PCSK4 19 1490288 1490288 + 5'Flank SNP G A g.chr19:1490288G>A TCGA-W5-AA39-01A-11D-A417-09 PCSK6 15 101929744 101929744 + Missense_Mutation SNP C T g.chr15:101929744C>T c.1232G>A p.C411Y TCGA-3X-AAVC-01A-21D-A417-09 PCSK9 1 55505552 55505552 + Silent SNP A G g.chr1:55505552A>G c.42A>G p.P14P TCGA-3X-AAV9-01A-72D-A417-09 PCSK9 1 55529044 55529044 + Silent SNP G T g.chr1:55529044G>T c.1866G>T p.V622V TCGA-W5-AA2G-01A-11D-A417-09 PCTP 17 53852193 53852193 + Silent SNP G T g.chr17:53852193G>T c.552G>T p.P184P TCGA-W5-AA2G-01A-11D-A417-09 PDCD2L 19 34916999 34916999 + Missense_Mutation SNP G A g.chr19:34916999G>A c.1051G>A p.D351N TCGA-W5-AA30-01A-31D-A417-09 PDCD6IP 3 33840300 33840300 + Missense_Mutation SNP A G g.chr3:33840300A>G c.80A>G p.Q27R TCGA-WD-A7RX-01A-12D-A417-09 PDCL 9 125588973 125588973 + Nonsense_Mutation SNP G A g.chr9:125588973G>A c.94C>T p.R32* TCGA-W5-AA2O-01A-11D-A417-09 PDDC1 11 775135 775135 + Silent SNP C A g.chr11:775135C>A c.72G>T p.S24S TCGA-YR-A95A-01A-12D-A417-09 PDE1B 12 54964077 54964077 + Missense_Mutation SNP A T g.chr12:54964077A>T c.530A>T p.D177V TCGA-W5-AA2G-01A-11D-A417-09 PDE1B 12 54970441 54970441 + Missense_Mutation SNP G A g.chr12:54970441G>A c.1463G>A p.R488H TCGA-ZH-A8Y6-01A-11D-A417-09 PDE1C 7 31855651 31855651 + Missense_Mutation SNP T C g.chr7:31855651T>C c.1700A>G p.K567R TCGA-W5-AA2Q-01A-11D-A417-09 PDE3A 12 20801776 20801776 + Missense_Mutation SNP C T g.chr12:20801776C>T c.2720C>T p.A907V TCGA-4G-AAZO-01A-12D-A417-09 PDE3B 11 14666369 14666369 + Missense_Mutation SNP G T g.chr11:14666369G>T c.748G>T p.G250C TCGA-W5-AA31-01A-11D-A417-09 PDE4A 19 10568639 10568639 + Missense_Mutation SNP C T g.chr19:10568639C>T c.962C>T p.P321L TCGA-W5-AA2U-01A-11D-A417-09 PDE4B 1 66713147 66713147 + Missense_Mutation SNP G C g.chr1:66713147G>C c.286G>C p.D96H TCGA-ZD-A8I3-01A-11D-A417-09 PDE4DIP 1 144879561 144879561 + Missense_Mutation SNP A G g.chr1:144879561A>G c.3889T>C p.C1297R TCGA-3X-AAV9-01A-72D-A417-09 PDE4DIP 1 144922029 144922029 + Missense_Mutation SNP G C g.chr1:144922029G>C c.1000C>G p.P334A TCGA-W5-AA39-01A-11D-A417-09 PDE4DIP 1 144931041 144931041 + Intron SNP C T g.chr1:144931041C>T TCGA-YR-A95A-01A-12D-A417-09 PDE6C 10 95400207 95400207 + Splice_Site SNP G T g.chr10:95400207G>T c.1630G>T p.V544F TCGA-ZH-A8Y6-01A-11D-A417-09 PDE7B 6 136512843 136512843 + Silent SNP C A g.chr6:136512843C>A c.1218C>A p.L406L TCGA-3X-AAVB-01A-31D-A417-09 PDE9A 21 44189140 44189140 + Missense_Mutation SNP G A g.chr21:44189140G>A c.1465G>A p.D489N TCGA-ZH-A8Y5-01A-11D-A417-09 PDGFD 11 103870948 103870948 + Missense_Mutation SNP C T g.chr11:103870948C>T c.160G>A p.E54K TCGA-W5-AA2G-01A-11D-A417-09 PDGFD 11 103814350 103814350 + Missense_Mutation SNP G A g.chr11:103814350G>A c.602C>T p.T201M TCGA-W5-AA2X-01A-11D-A417-09 PDGFRB 5 149500517 149500518 + Missense_Mutation DNP GA TT g.chr5:149500517_149500518GA>TT c.2519_2520TC>AA p.V840E TCGA-3X-AAVA-01A-11D-A417-09 PDGFRL 8 17447006 17447006 + Missense_Mutation SNP C T g.chr8:17447006C>T c.85C>T p.R29C TCGA-W5-AA2Q-01A-11D-A417-09 PDIA2 16 334725 334725 + Missense_Mutation SNP T C g.chr16:334725T>C c.473T>C p.L158P TCGA-W5-AA39-01A-11D-A417-09 PDIA4 7 148701059 148701059 + Missense_Mutation SNP C T g.chr7:148701059C>T c.1765G>A p.D589N TCGA-W5-AA2Z-01A-11D-A417-09 PDIK1L 1 26448622 26448622 + Missense_Mutation SNP A C g.chr1:26448622A>C c.580A>C p.S194R TCGA-W5-AA39-01A-11D-A417-09 PDP1 8 94935050 94935050 + Missense_Mutation SNP G A g.chr8:94935050G>A c.763G>A p.D255N TCGA-3X-AAV9-01A-72D-A417-09 PDP2 16 66918662 66918662 + Missense_Mutation SNP T C g.chr16:66918662T>C c.475T>C p.Y159H TCGA-W5-AA39-01A-11D-A417-09 PDZD2 5 32093091 32093091 + Silent SNP C A g.chr5:32093091C>A c.7806C>A p.T2602T TCGA-4G-AAZO-01A-12D-A417-09 PDZD2 5 31983419 31983419 + Missense_Mutation SNP A G g.chr5:31983419A>G c.635A>G p.K212R TCGA-W5-AA39-01A-11D-A417-09 PDZD2 5 32077650 32077650 + Missense_Mutation SNP C T g.chr5:32077650C>T c.3620C>T p.A1207V TCGA-ZH-A8Y1-01A-11D-A417-09 PDZD2 5 32071524 32071524 + Splice_Site SNP G A g.chr5:32071524G>A c.2568G>A p.K856K TCGA-ZH-A8Y6-01A-11D-A417-09 PECI 6 4133832 4133832 + Missense_Mutation SNP T C g.chr6:4133832T>C c.164A>G p.K55R TCGA-4G-AAZT-01A-11D-A417-09 PEPD 19 33953903 33953903 + Missense_Mutation SNP T G g.chr19:33953903T>G c.669A>C p.E223D TCGA-W5-AA2I-01A-32D-A417-09 PER1 17 8051527 8051527 + Missense_Mutation SNP T G g.chr17:8051527T>G c.1099A>C p.S367R TCGA-W5-AA39-01A-11D-A417-09 PER1 17 8051559 8051559 + Missense_Mutation SNP T C g.chr17:8051559T>C c.1067A>G p.D356G TCGA-W5-AA39-01A-11D-A417-09 PER1 17 8046029 8046029 + Missense_Mutation SNP C T g.chr17:8046029C>T c.3197G>A p.G1066D TCGA-ZH-A8Y1-01A-11D-A417-09 PER2 2 239164502 239164502 + Missense_Mutation SNP C A g.chr2:239164502C>A c.2116G>T p.G706C TCGA-W5-AA2Q-01A-11D-A417-09 PER2 2 239166978 239166978 + Silent SNP G T g.chr2:239166978G>T c.1839C>A p.V613V TCGA-W5-AA2X-01A-11D-A417-09 PER3 1 7890026 7890026 + Missense_Mutation SNP A G g.chr1:7890026A>G c.2992A>G p.K998E TCGA-ZH-A8Y2-01A-11D-A417-09 PEX1 7 92122368 92122368 + Missense_Mutation SNP C A g.chr7:92122368C>A c.3106G>T p.A1036S TCGA-W5-AA2H-01A-31D-A417-09 PEX11B 1 145518133 145518133 + Missense_Mutation SNP G A g.chr1:145518133G>A c.235G>A p.D79N TCGA-3X-AAVE-01A-11D-A417-09 PEX16 11 45939028 45939028 + Silent SNP C T g.chr11:45939028C>T c.129G>A p.S43S TCGA-W5-AA2G-01A-11D-A417-09 PF4V1 4 74719786 74719786 + Missense_Mutation SNP G A g.chr4:74719786G>A c.262G>A p.D88N TCGA-ZH-A8Y4-01A-11D-A417-09 PFDN1 5 139680104 139680104 + Missense_Mutation SNP G T g.chr5:139680104G>T c.97C>A p.Q33K TCGA-W5-AA2G-01A-11D-A417-09 PFKL 21 45746699 45746699 + Missense_Mutation SNP T G g.chr21:45746699T>G c.2297T>G p.L766R TCGA-W5-AA39-01A-11D-A417-09 PFKM 12 48501972 48501972 + 5'Flank SNP A C g.chr12:48501972A>C TCGA-W5-AA39-01A-11D-A417-09 PFKP 10 3124594 3124594 + Missense_Mutation SNP G A g.chr10:3124594G>A c.127G>A p.V43I TCGA-W5-AA2Q-01A-11D-A417-09 PFKP 10 3149416 3149416 + Missense_Mutation SNP G A g.chr10:3149416G>A c.785G>A p.R262Q TCGA-ZH-A8Y6-01A-11D-A417-09 PGBD1 6 28251740 28251740 + Missense_Mutation SNP C A g.chr6:28251740C>A c.150C>A p.F50L TCGA-W5-AA2G-01A-11D-A417-09 PGBD1 6 28251597 28251597 + Missense_Mutation SNP G A g.chr6:28251597G>A c.7G>A p.E3K TCGA-ZH-A8Y4-01A-11D-A417-09 PGBD2 1 249211007 249211007 + Missense_Mutation SNP T C g.chr1:249211007T>C c.224T>C p.L75P TCGA-W5-AA39-01A-11D-A417-09 PGD 1 10478978 10478978 + Missense_Mutation SNP G A g.chr1:10478978G>A c.1205G>A p.C402Y TCGA-W5-AA2U-01A-11D-A417-09 PGD 1 10471520 10471520 + Missense_Mutation SNP G T g.chr1:10471520G>T c.565G>T p.G189W TCGA-ZH-A8Y1-01A-11D-A417-09 PGGT1B 5 114566719 114566719 + Splice_Site SNP C T g.chr5:114566719C>T TCGA-ZH-A8Y5-01A-11D-A417-09 PHACTR1 6 13053670 13053670 + Silent SNP C T g.chr6:13053670C>T c.324C>T p.R108R TCGA-W5-AA2T-01A-12D-A417-09 PHC3 3 169820688 169820688 + Missense_Mutation SNP T A g.chr3:169820688T>A c.2467A>T p.S823C TCGA-W5-AA39-01A-11D-A417-09 PHF15 5 133871604 133871604 + Splice_Site SNP C T g.chr5:133871604C>T c.57C>T p.D19D TCGA-W5-AA31-01A-11D-A417-09 PHF15 5 133887780 133887780 + Silent SNP G T g.chr5:133887780G>T c.192G>T p.P64P TCGA-W5-AA39-01A-11D-A417-09 PHF20L1 8 133816130 133816130 + Nonsense_Mutation SNP C T g.chr8:133816130C>T c.574C>T p.R192* TCGA-W5-AA2G-01A-11D-A417-09 PHF20L1 8 133858086 133858086 + Missense_Mutation SNP T C g.chr8:133858086T>C c.2972T>C p.L991S TCGA-W5-AA39-01A-11D-A417-09 PHF3 6 64394977 64394977 + Missense_Mutation SNP A C g.chr6:64394977A>C c.1354A>C p.N452H TCGA-3X-AAVE-01A-11D-A417-09 PHF3 6 64416712 64416712 + Silent SNP A C g.chr6:64416712A>C c.3657A>C p.A1219A TCGA-W5-AA39-01A-11D-A417-09 PHIP 6 79679836 79679836 + Missense_Mutation SNP G C g.chr6:79679836G>C c.3052C>G p.L1018V TCGA-4G-AAZT-01A-11D-A417-09 PHIP 6 79707219 79707219 + Missense_Mutation SNP C T g.chr6:79707219C>T c.2113G>A p.A705T TCGA-W5-AA2H-01A-31D-A417-09 PHKA1 23 71839078 71839078 + Nonsense_Mutation SNP G A g.chrX:71839078G>A c.2215C>T p.R739* TCGA-W5-AA2X-01A-11D-A417-09 PHKA1 23 71932695 71932695 + Missense_Mutation SNP A G g.chrX:71932695A>G c.163T>C p.W55R TCGA-W5-AA2X-01A-11D-A417-09 PHKA1 23 71825199 71825199 + Missense_Mutation SNP C A g.chrX:71825199C>A c.2737G>T p.A913S TCGA-YR-A95A-01A-12D-A417-09 PHKA2 23 18924875 18924875 + Silent SNP G A g.chrX:18924875G>A c.2655C>T p.I885I TCGA-W5-AA2G-01A-11D-A417-09 PHKB 16 47675545 47675545 + Missense_Mutation SNP C T g.chr16:47675545C>T c.1550C>T p.T517I TCGA-ZD-A8I3-01A-11D-A417-09 PHLDB1 11 118499246 118499246 + Silent SNP G T g.chr11:118499246G>T c.1707G>T p.V569V TCGA-W5-AA38-01A-11D-A417-09 PHLDB2 3 111604232 111604232 + Silent SNP A G g.chr3:111604232A>G c.1308A>G p.R436R TCGA-4G-AAZO-01A-12D-A417-09 PHLPP1 18 60562374 60562374 + Missense_Mutation SNP G A g.chr18:60562374G>A c.2197G>A p.V733I TCGA-W5-AA38-01A-11D-A417-09 PHLPP1 18 60562326 60562326 + Missense_Mutation SNP G C g.chr18:60562326G>C c.2149G>C p.A717P TCGA-ZH-A8Y1-01A-11D-A417-09 PHLPP1 18 60612431 60612431 + Missense_Mutation SNP G A g.chr18:60612431G>A c.3251G>A p.R1084H TCGA-ZH-A8Y8-01A-51D-A417-09 PHTF1 1 114247312 114247312 + Missense_Mutation SNP C A g.chr1:114247312C>A c.1779G>T p.W593C TCGA-W5-AA30-01A-31D-A417-09 PHYH 10 13337503 13337503 + Missense_Mutation SNP G A g.chr10:13337503G>A c.238C>T p.R80C TCGA-W5-AA2I-01A-32D-A417-09 PHYHD1 9 131704026 131704026 + 3'UTR SNP C T g.chr9:131704026C>T TCGA-W5-AA2G-01A-11D-A417-09 PHYHIP 8 22079030 22079030 + Missense_Mutation SNP G T g.chr8:22079030G>T c.829C>A p.R277S TCGA-W5-AA2U-01A-11D-A417-09 PI15 8 75737614 75737614 + Missense_Mutation SNP C A g.chr8:75737614C>A c.130C>A p.L44M TCGA-W5-AA33-01A-11D-A417-09 PI15 8 75737721 75737721 + Silent SNP C A g.chr8:75737721C>A c.237C>A p.G79G TCGA-ZU-A8S4-01A-11D-A417-09 PI4KA 22 21153979 21153979 + Silent SNP G A g.chr22:21153979G>A c.1626C>T p.Y542Y TCGA-3X-AAV9-01A-72D-A417-09 PI4KA 22 21150447 21150447 + Missense_Mutation SNP C A g.chr22:21150447C>A c.2090G>T p.G697V TCGA-ZH-A8Y2-01A-11D-A417-09 PICK1 22 38463728 38463728 + Silent SNP C T g.chr22:38463728C>T c.300C>T p.H100H TCGA-ZU-A8S4-01A-11D-A417-09 PIF1 15 65114771 65114771 + Missense_Mutation SNP G T g.chr15:65114771G>T c.597C>A p.S199R TCGA-W5-AA2H-01A-31D-A417-09 PIGR 1 207107996 207107996 + Nonsense_Mutation SNP C A g.chr1:207107996C>A c.1474G>T p.E492* TCGA-W5-AA2I-01A-32D-A417-09 PIGS 17 26898495 26898495 + Missense_Mutation SNP G A g.chr17:26898495G>A c.20C>T p.A7V TCGA-W5-AA33-01A-11D-A417-09 PIGS 17 26898172 26898174 + In_Frame_Del DEL GAA - g.chr17:26898172_26898174delGAA c.67_69delTTC p.F23del TCGA-W5-AA34-01A-11D-A417-09 PIGY 4 89443125 89443125 + Missense_Mutation SNP T C g.chr4:89443125T>C c.259A>G p.I87V TCGA-ZH-A8Y8-01A-51D-A417-09 PIH1D2 11 111942424 111942424 + Missense_Mutation SNP G A g.chr11:111942424G>A c.236C>T p.P79L TCGA-W6-AA0S-01A-11D-A417-09 PIK3C2G 12 18443878 18443878 + Missense_Mutation SNP C A g.chr12:18443878C>A c.851C>A p.S284Y TCGA-W5-AA2R-01A-11D-A417-09 PIK3C2G 12 18524178 18524178 + Missense_Mutation SNP G T g.chr12:18524178G>T c.1690G>T p.G564W TCGA-ZH-A8Y8-01A-51D-A417-09 PIK3C3 18 39629497 39629497 + Nonsense_Mutation SNP G T g.chr18:39629497G>T c.2191G>T p.G731* TCGA-ZH-A8Y6-01A-11D-A417-09 PIK3CA 3 178952085 178952085 + Missense_Mutation SNP A T g.chr3:178952085A>T c.3140A>T p.H1047L TCGA-4G-AAZT-01A-11D-A417-09 PIK3CA 3 178936091 178936091 + Missense_Mutation SNP G A g.chr3:178936091G>A c.1633G>A p.E545K TCGA-ZH-A8Y1-01A-11D-A417-09 PIK3CB 3 138407796 138407796 + Missense_Mutation SNP G A g.chr3:138407796G>A c.2057C>T p.A686V TCGA-W5-AA2O-01A-11D-A417-09 PIK3CB 3 138407783 138407783 + Missense_Mutation SNP T G g.chr3:138407783T>G c.2070A>C p.Q690H TCGA-W5-AA39-01A-11D-A417-09 PIK3R1 5 67522582 67522582 + Missense_Mutation SNP G T g.chr5:67522582G>T c.79G>T p.G27C TCGA-W5-AA39-01A-11D-A417-09 PIK3R1 5 67569785 67569785 + Missense_Mutation SNP T C g.chr5:67569785T>C c.446T>C p.L149P TCGA-W5-AA39-01A-11D-A417-09 PIK3R4 3 130452666 130452666 + Silent SNP A G g.chr3:130452666A>G c.1176T>C p.C392C TCGA-W5-AA39-01A-11D-A417-09 PIKFYVE 2 209189656 209189656 + Missense_Mutation SNP C G g.chr2:209189656C>G c.2353C>G p.R785G TCGA-W5-AA39-01A-11D-A417-09 PINX1 8 10677706 10677706 + Silent SNP G A g.chr8:10677706G>A c.468C>T p.P156P TCGA-ZH-A8Y5-01A-11D-A417-09 PIP4K2B 17 36934618 36934618 + Missense_Mutation SNP G A g.chr17:36934618G>A c.662C>T p.T221M TCGA-W5-AA2W-01A-11D-A417-09 PIP4K2B 17 36925956 36925956 + Missense_Mutation SNP G T g.chr17:36925956G>T c.1239C>A p.N413K TCGA-ZH-A8Y5-01A-11D-A417-09 PIP4K2C 12 57994636 57994636 + Missense_Mutation SNP G T g.chr12:57994636G>T c.856G>T p.G286C TCGA-3X-AAV9-01A-72D-A417-09 PIP5KL1 9 130688240 130688240 + Silent SNP G A g.chr9:130688240G>A c.669C>T p.C223C TCGA-W5-AA2W-01A-11D-A417-09 PIWIL1 12 130832683 130832683 + Missense_Mutation SNP G T g.chr12:130832683G>T c.689G>T p.R230L TCGA-W5-AA31-01A-11D-A417-09 PIWIL2 8 22145050 22145050 + Silent SNP G T g.chr8:22145050G>T c.753G>T p.V251V TCGA-3X-AAV9-01A-72D-A417-09 PJA1 23 68382847 68382847 + Missense_Mutation SNP A G g.chrX:68382847A>G c.235T>C p.W79R TCGA-YR-A95A-01A-12D-A417-09 PJA2 5 108714025 108714025 + Missense_Mutation SNP T G g.chr5:108714025T>G c.1163A>C p.E388A TCGA-W5-AA39-01A-11D-A417-09 PKD1 16 2162835 2162835 + Missense_Mutation SNP G T g.chr16:2162835G>T c.3115C>A p.L1039M TCGA-W5-AA2Q-01A-11D-A417-09 PKD1 16 2160404 2160404 + Silent SNP G A g.chr16:2160404G>A c.4764C>T p.C1588C TCGA-ZH-A8Y5-01A-11D-A417-09 PKD1L1 7 47876572 47876572 + Missense_Mutation SNP G T g.chr7:47876572G>T c.5890C>A p.L1964M TCGA-3X-AAV9-01A-72D-A417-09 PKD1L1 7 47894505 47894505 + Missense_Mutation SNP C T g.chr7:47894505C>T c.4834G>A p.A1612T TCGA-W5-AA2O-01A-11D-A417-09 PKD1L2 16 81248669 81248669 + RNA SNP A T g.chr16:81248669A>T TCGA-W5-AA39-01A-11D-A417-09 PKD2L1 10 102059361 102059361 + Missense_Mutation SNP G T g.chr10:102059361G>T c.464C>A p.A155E TCGA-W5-AA2I-01A-32D-A417-09 PKDREJ 22 46653730 46653730 + Missense_Mutation SNP G T g.chr22:46653730G>T c.5490C>A p.D1830E TCGA-3X-AAV9-01A-72D-A417-09 PKHD1 6 51921499 51921499 + Nonsense_Mutation SNP G A g.chr6:51921499G>A c.1690C>T p.R564* TCGA-3X-AAV9-01A-72D-A417-09 PKHD1 6 51890257 51890257 + Missense_Mutation SNP G C g.chr6:51890257G>C c.4351C>G p.P1451A TCGA-ZD-A8I3-01A-11D-A417-09 PKHD1L1 8 110457602 110457602 + Missense_Mutation SNP C A g.chr8:110457602C>A c.5504C>A p.S1835Y TCGA-W5-AA2I-01A-32D-A417-09 PKHD1L1 8 110431382 110431382 + Missense_Mutation SNP C A g.chr8:110431382C>A c.2417C>A p.T806K TCGA-W5-AA31-01A-11D-A417-09 PKHD1L1 8 110476496 110476496 + Missense_Mutation SNP C T g.chr8:110476496C>T c.7435C>T p.H2479Y TCGA-WD-A7RX-01A-12D-A417-09 PKHD1L1 8 110491815 110491815 + Missense_Mutation SNP G T g.chr8:110491815G>T c.9125G>T p.R3042L TCGA-ZH-A8Y6-01A-11D-A417-09 PKLR 1 155271109 155271109 + Silent SNP G T g.chr1:155271109G>T c.78C>A p.S26S TCGA-W5-AA2Q-01A-11D-A417-09 PKLR 1 155261558 155261558 + Missense_Mutation SNP C T g.chr1:155261558C>T c.1607G>A p.G536D TCGA-W5-AA38-01A-11D-A417-09 PKLR 1 155271160 155271160 + Silent SNP G T g.chr1:155271160G>T c.27C>A p.S9S TCGA-ZU-A8S4-01A-11D-A417-09 PKN3 9 131475475 131475475 + Missense_Mutation SNP C T g.chr9:131475475C>T c.980C>T p.A327V TCGA-W5-AA38-01A-11D-A417-09 PKNOX2 11 125280125 125280125 + Nonsense_Mutation SNP G T g.chr11:125280125G>T c.622G>T p.G208* TCGA-W5-AA2I-01A-32D-A417-09 PKP1 1 201286846 201286846 + Silent SNP C T g.chr1:201286846C>T c.993C>T p.I331I TCGA-W5-AA2G-01A-11D-A417-09 PLA2G15 16 68289247 68289247 + Missense_Mutation SNP G A g.chr16:68289247G>A c.466G>A p.V156I TCGA-YR-A95A-01A-12D-A417-09 PLA2G1B 12 120765537 120765537 + Missense_Mutation SNP G T g.chr12:120765537G>T c.20C>A p.A7D TCGA-W5-AA2T-01A-12D-A417-09 PLA2G4C 19 48565379 48565379 + Missense_Mutation SNP C T g.chr19:48565379C>T c.1133G>A p.R378Q TCGA-W5-AA31-01A-11D-A417-09 PLA2G4D 15 42363325 42363325 + Missense_Mutation SNP C A g.chr15:42363325C>A c.1872G>T p.W624C TCGA-W5-AA39-01A-11D-A417-09 PLA2G4E 15 42276152 42276152 + Missense_Mutation SNP C T g.chr15:42276152C>T c.2407G>A p.E803K TCGA-W5-AA30-01A-31D-A417-09 PLA2G4E 15 42292455 42292455 + Silent SNP G A g.chr15:42292455G>A c.699C>T p.N233N TCGA-W6-AA0S-01A-11D-A417-09 PLA2G4F 15 42446614 42446614 + Missense_Mutation SNP G T g.chr15:42446614G>T c.227C>A p.A76E TCGA-ZH-A8Y5-01A-11D-A417-09 PLBD1 12 14664306 14664306 + Silent SNP C A g.chr12:14664306C>A c.1074G>T p.L358L TCGA-4G-AAZO-01A-12D-A417-09 PLBD2 12 113812331 113812331 + Missense_Mutation SNP G A g.chr12:113812331G>A c.596G>A p.R199H TCGA-W5-AA2Q-01A-11D-A417-09 PLCB1 20 8703060 8703060 + Missense_Mutation SNP A C g.chr20:8703060A>C c.1573A>C p.M525L TCGA-4G-AAZT-01A-11D-A417-09 PLCG1 20 39793975 39793975 + Missense_Mutation SNP G A g.chr20:39793975G>A c.1477G>A p.G493S TCGA-W5-AA38-01A-11D-A417-09 PLCH2 1 2430086 2430086 + Splice_Site SNP G C g.chr1:2430086G>C c.2349G>C p.E783D TCGA-ZH-A8Y8-01A-51D-A417-09 PLCL1 2 198950711 198950711 + Missense_Mutation SNP C T g.chr2:198950711C>T c.2470C>T p.R824W TCGA-3X-AAVE-01A-11D-A417-09 PLCL2 3 17084422 17084422 + Silent SNP C T g.chr3:17084422C>T c.2697C>T p.I899I TCGA-W5-AA33-01A-11D-A417-09 PLCXD3 5 41510580 41510580 + Missense_Mutation SNP C T g.chr5:41510580C>T c.49G>A p.A17T TCGA-W5-AA33-01A-11D-A417-09 PLD1 3 171394504 171394504 + Splice_Site SNP C T g.chr3:171394504C>T TCGA-W5-AA39-01A-11D-A417-09 PLEC 8 144991673 144991673 + Nonsense_Mutation SNP C A g.chr8:144991673C>A c.12727G>T p.E4243* TCGA-W5-AA2U-01A-11D-A417-09 PLEKHA6 1 204236606 204236606 + Missense_Mutation SNP T C g.chr1:204236606T>C c.277A>G p.K93E TCGA-W5-AA39-01A-11D-A417-09 PLEKHG2 19 39914272 39914272 + Missense_Mutation SNP C T g.chr19:39914272C>T c.2578C>T p.P860S TCGA-ZH-A8Y4-01A-11D-A417-09 PLEKHG4 16 67319000 67319000 + Missense_Mutation SNP T G g.chr16:67319000T>G c.2077T>G p.C693G TCGA-W5-AA39-01A-11D-A417-09 PLEKHG5 1 6529206 6529206 + Silent SNP C T g.chr1:6529206C>T c.2313G>A p.E771E TCGA-W5-AA34-01A-11D-A417-09 PLEKHH3 17 40823452 40823452 + Missense_Mutation SNP G A g.chr17:40823452G>A c.1201C>T p.R401W TCGA-W5-AA2G-01A-11D-A417-09 PLEKHH3 17 40823370 40823370 + Splice_Site SNP T C g.chr17:40823370T>C c.1283A>G p.E428G TCGA-W5-AA38-01A-11D-A417-09 PLEKHH3 17 40823409 40823409 + Missense_Mutation SNP G A g.chr17:40823409G>A c.1244C>T p.A415V TCGA-W5-AA39-01A-11D-A417-09 PLEKHM2 1 16056369 16056369 + Missense_Mutation SNP C T g.chr1:16056369C>T c.2153C>T p.A718V TCGA-W5-AA2G-01A-11D-A417-09 PLEKHM3 2 208866251 208866251 + Missense_Mutation SNP C A g.chr2:208866251C>A c.113G>T p.G38V TCGA-4G-AAZO-01A-12D-A417-09 PLIN4 19 4510665 4510665 + Missense_Mutation SNP G T g.chr19:4510665G>T c.3265C>A p.P1089T TCGA-3X-AAVB-01A-31D-A417-09 PLIN4 19 4511680 4511680 + Silent SNP A G g.chr19:4511680A>G c.2250T>C p.D750D TCGA-W5-AA2Q-01A-11D-A417-09 PLK3 1 45266806 45266806 + Missense_Mutation SNP G T g.chr1:45266806G>T c.417G>T p.L139F TCGA-3X-AAVB-01A-31D-A417-09 PLOD1 1 12017915 12017915 + Missense_Mutation SNP T C g.chr1:12017915T>C c.758T>C p.L253P TCGA-W5-AA2X-01A-11D-A417-09 PLOD2 3 145788922 145788922 + Nonsense_Mutation SNP G T g.chr3:145788922G>T c.1965C>A p.Y655* TCGA-W5-AA2U-01A-11D-A417-09 PLRG1 4 155463385 155463385 + Missense_Mutation SNP G A g.chr4:155463385G>A c.641C>T p.P214L TCGA-W5-AA39-01A-11D-A417-09 PLXNA2 1 208200667 208200667 + Missense_Mutation SNP T A g.chr1:208200667T>A c.5606A>T p.E1869V TCGA-W5-AA39-01A-11D-A417-09 PLXNA3 23 153688565 153688565 + Frame_Shift_Del DEL G - g.chrX:153688565delG c.42delG p.V14fs TCGA-W5-AA2O-01A-11D-A417-09 PLXNA4 7 132174138 132174138 + Missense_Mutation SNP G T g.chr7:132174138G>T c.1284C>A p.D428E TCGA-3X-AAVC-01A-21D-A417-09 PLXNA4 7 131888134 131888134 + Missense_Mutation SNP C G g.chr7:131888134C>G c.2343G>C p.L781F TCGA-4G-AAZT-01A-11D-A417-09 PLXNA4 7 131887488 131887488 + Missense_Mutation SNP G A g.chr7:131887488G>A c.2503C>T p.R835C TCGA-W5-AA39-01A-11D-A417-09 PLXNA4 7 131887440 131887440 + Missense_Mutation SNP C T g.chr7:131887440C>T c.2551G>A p.A851T TCGA-W6-AA0S-01A-11D-A417-09 PLXNA4 7 132193245 132193245 + Missense_Mutation SNP G A g.chr7:132193245G>A c.208C>T p.R70W TCGA-ZH-A8Y4-01A-11D-A417-09 PLXNB1 3 48461494 48461494 + Missense_Mutation SNP C A g.chr3:48461494C>A c.2201G>T p.S734I TCGA-W5-AA2O-01A-11D-A417-09 PLXNB2 22 50720113 50720113 + Missense_Mutation SNP T A g.chr22:50720113T>A c.3404A>T p.E1135V TCGA-W5-AA39-01A-11D-A417-09 PLXNB3 23 153040491 153040491 + Missense_Mutation SNP G A g.chrX:153040491G>A c.4088G>A p.C1363Y TCGA-WD-A7RX-01A-12D-A417-09 PMFBP1 16 72174346 72174346 + Missense_Mutation SNP C T g.chr16:72174346C>T c.772G>A p.E258K TCGA-WD-A7RX-01A-12D-A417-09 PNCK 23 152936621 152936621 + Silent SNP G A g.chrX:152936621G>A c.639C>T p.Y213Y TCGA-ZH-A8Y4-01A-11D-A417-09 PNLDC1 6 160225658 160225658 + Missense_Mutation SNP G T g.chr6:160225658G>T c.417G>T p.W139C TCGA-3X-AAVE-01A-11D-A417-09 PNLDC1 6 160240039 160240039 + Missense_Mutation SNP G T g.chr6:160240039G>T c.1286G>T p.R429M TCGA-ZH-A8Y1-01A-11D-A417-09 PNN 14 39645733 39645733 + Missense_Mutation SNP G A g.chr14:39645733G>A c.188G>A p.R63H TCGA-4G-AAZO-01A-12D-A417-09 PNPLA4 23 7868821 7868821 + Missense_Mutation SNP A G g.chrX:7868821A>G c.668T>C p.L223P TCGA-ZD-A8I3-01A-11D-A417-09 PNPLA6 19 7625960 7625960 + Missense_Mutation SNP C T g.chr19:7625960C>T c.3763C>T p.P1255S TCGA-W5-AA2Z-01A-11D-A417-09 PNPT1 2 55874589 55874589 + Splice_Site SNP C A g.chr2:55874589C>A TCGA-W5-AA31-01A-11D-A417-09 POC1B 12 89891025 89891025 + Missense_Mutation SNP G T g.chr12:89891025G>T c.195C>A p.S65R TCGA-3X-AAVE-01A-11D-A417-09 PODN 1 53535704 53535704 + Silent SNP C T g.chr1:53535704C>T c.321C>T p.P107P TCGA-W5-AA2T-01A-12D-A417-09 PODNL1 19 14044766 14044766 + Missense_Mutation SNP C T g.chr19:14044766C>T c.713G>A p.R238H TCGA-ZH-A8Y6-01A-11D-A417-09 POLA1 23 24741359 24741359 + Missense_Mutation SNP C T g.chrX:24741359C>T c.1157C>T p.T386M TCGA-W5-AA2U-01A-11D-A417-09 POLA2 11 65046272 65046272 + Missense_Mutation SNP A G g.chr11:65046272A>G c.533A>G p.Q178R TCGA-4G-AAZT-01A-11D-A417-09 POLB 8 42202490 42202490 + Missense_Mutation SNP G T g.chr8:42202490G>T c.139G>T p.A47S TCGA-W5-AA2X-01A-11D-A417-09 POLE 12 133253969 133253969 + Missense_Mutation SNP C T g.chr12:133253969C>T c.781G>A p.D261N TCGA-3X-AAVE-01A-11D-A417-09 POLE 12 133244235 133244235 + Splice_Site SNP C A g.chr12:133244235C>A TCGA-W5-AA2G-01A-11D-A417-09 POLE 12 133202250 133202250 + Missense_Mutation SNP G T g.chr12:133202250G>T c.6638C>A p.A2213D TCGA-W5-AA2R-01A-11D-A417-09 POLE 12 133233951 133233951 + Missense_Mutation SNP G T g.chr12:133233951G>T c.3443C>A p.P1148H TCGA-W5-AA31-01A-11D-A417-09 POLE 12 133202837 133202837 + Missense_Mutation SNP C A g.chr12:133202837C>A c.6397G>T p.V2133L TCGA-W5-AA39-01A-11D-A417-09 POLE2 14 50120901 50120901 + Missense_Mutation SNP C A g.chr14:50120901C>A c.1105G>T p.D369Y TCGA-4G-AAZO-01A-12D-A417-09 POLH 6 43581551 43581551 + Missense_Mutation SNP G T g.chr6:43581551G>T c.1399G>T p.G467C TCGA-3X-AAV9-01A-72D-A417-09 POLM 7 44113248 44113248 + Silent SNP G A g.chr7:44113248G>A c.1374C>T p.S458S TCGA-3X-AAVB-01A-31D-A417-09 POLR2F 22 38363154 38363154 + Silent SNP G T g.chr22:38363154G>T c.270G>T p.L90L TCGA-ZH-A8Y8-01A-51D-A417-09 POLR3B 12 106853126 106853126 + Missense_Mutation SNP G T g.chr12:106853126G>T c.2550G>T p.Q850H TCGA-4G-AAZT-01A-11D-A417-09 POLR3C 1 145601830 145601830 + Missense_Mutation SNP T C g.chr1:145601830T>C c.701A>G p.Y234C TCGA-ZH-A8Y2-01A-11D-A417-09 POLR3E 16 22337151 22337151 + Missense_Mutation SNP C T g.chr16:22337151C>T c.1418C>T p.A473V TCGA-W5-AA2X-01A-11D-A417-09 POLR3H 22 41928664 41928664 + Splice_Site SNP G A g.chr22:41928664G>A c.294C>T p.H98H TCGA-W5-AA2W-01A-11D-A417-09 POM121 7 72416719 72416719 + Silent SNP C T g.chr7:72416719C>T c.3696C>T p.T1232T TCGA-3X-AAVC-01A-21D-A417-09 POMGNT1 1 46662489 46662489 + Missense_Mutation SNP G T g.chr1:46662489G>T c.268C>A p.R90S TCGA-W5-AA38-01A-11D-A417-09 POPDC3 6 105609709 105609709 + Missense_Mutation SNP C T g.chr6:105609709C>T c.76G>A p.E26K TCGA-ZH-A8Y8-01A-51D-A417-09 POR 7 75615316 75615316 + Missense_Mutation SNP T A g.chr7:75615316T>A c.1745T>A p.L582Q TCGA-W5-AA39-01A-11D-A417-09 POTEC 18 14542812 14542812 + Missense_Mutation SNP T C g.chr18:14542812T>C c.334A>G p.S112G TCGA-W5-AA34-01A-11D-A417-09 POTEF 2 130832686 130832686 + Missense_Mutation SNP G A g.chr2:130832686G>A c.2359C>T p.H787Y TCGA-W5-AA39-01A-11D-A417-09 POTEG 14 19553530 19553530 + Silent SNP C T g.chr14:19553530C>T c.114C>T p.S38S TCGA-W6-AA0S-01A-11D-A417-09 POTEG 14 19553567 19553567 + Missense_Mutation SNP G A g.chr14:19553567G>A c.151G>A p.D51N TCGA-YR-A95A-01A-12D-A417-09 POU1F1 3 87311274 87311274 + Missense_Mutation SNP C A g.chr3:87311274C>A c.551G>T p.C184F TCGA-W5-AA2R-01A-11D-A417-09 POU4F2 4 147560457 147560457 + Silent SNP T C g.chr4:147560457T>C c.165T>C p.G55G TCGA-4G-AAZT-01A-11D-A417-09 PPA1 10 71978550 71978550 + Silent SNP T C g.chr10:71978550T>C c.147A>G p.E49E TCGA-ZH-A8Y2-01A-11D-A417-09 PPAP2A 5 54763893 54763893 + Missense_Mutation SNP A G g.chr5:54763893A>G c.295T>C p.Y99H TCGA-W5-AA39-01A-11D-A417-09 PPARA 22 46594338 46594338 + Nonsense_Mutation SNP G T g.chr22:46594338G>T c.58G>T p.E20* TCGA-W6-AA0S-01A-11D-A417-09 PPARD 6 35392430 35392430 + Missense_Mutation SNP C A g.chr6:35392430C>A c.952C>A p.R318S TCGA-W5-AA38-01A-11D-A417-09 PPCS 1 42925444 42925444 + Missense_Mutation SNP G C g.chr1:42925444G>C c.783G>C p.E261D TCGA-W5-AA38-01A-11D-A417-09 PPFIA3 19 49651449 49651449 + Missense_Mutation SNP G T g.chr19:49651449G>T c.2945G>T p.R982L TCGA-ZH-A8Y8-01A-51D-A417-09 PPFIBP1 12 27832995 27832995 + Splice_Site SNP G T g.chr12:27832995G>T TCGA-W5-AA2U-01A-11D-A417-09 PPFIBP2 11 7669733 7669733 + Missense_Mutation SNP A C g.chr11:7669733A>C c.1762A>C p.T588P TCGA-W5-AA39-01A-11D-A417-09 PPL 16 4945406 4945406 + Missense_Mutation SNP G T g.chr16:4945406G>T c.1098C>A p.D366E TCGA-4G-AAZO-01A-12D-A417-09 PPL 16 4935049 4935049 + Silent SNP G T g.chr16:4935049G>T c.3607C>A p.R1203R TCGA-W5-AA2O-01A-11D-A417-09 PPL 16 4938984 4938984 + Missense_Mutation SNP C T g.chr16:4938984C>T c.2392G>A p.V798I TCGA-W5-AA38-01A-11D-A417-09 PPL 16 4953901 4953901 + Missense_Mutation SNP G T g.chr16:4953901G>T c.303C>A p.D101E TCGA-ZH-A8Y6-01A-11D-A417-09 PPM1D 17 58740756 58740756 + Missense_Mutation SNP G T g.chr17:58740756G>T c.1661G>T p.G554V TCGA-ZH-A8Y2-01A-11D-A417-09 PPM1E 17 57046944 57046944 + Silent SNP G T g.chr17:57046944G>T c.828G>T p.G276G TCGA-3X-AAVC-01A-21D-A417-09 PPM1G 2 27605369 27605369 + Missense_Mutation SNP G T g.chr2:27605369G>T c.1305C>A p.F435L TCGA-ZH-A8Y2-01A-11D-A417-09 PPM1H 12 63042370 63042370 + Silent SNP G A g.chr12:63042370G>A c.1444C>T p.L482L TCGA-ZH-A8Y4-01A-11D-A417-09 PPM1J 1 113253388 113253388 + Missense_Mutation SNP G C g.chr1:113253388G>C c.1196C>G p.P399R TCGA-W5-AA34-01A-11D-A417-09 PPP1CB 2 29006824 29006824 + Missense_Mutation SNP C T g.chr2:29006824C>T c.572C>T p.P191L TCGA-W5-AA30-01A-31D-A417-09 PPP1R13B 14 104202439 104202439 + Missense_Mutation SNP G T g.chr14:104202439G>T c.3132C>A p.D1044E TCGA-ZH-A8Y4-01A-11D-A417-09 PPP1R15A 19 49377974 49377974 + Missense_Mutation SNP C T g.chr19:49377974C>T c.1484C>T p.A495V TCGA-3X-AAVE-01A-11D-A417-09 PPP1R16A 8 145725522 145725522 + Missense_Mutation SNP T A g.chr8:145725522T>A c.520T>A p.Y174N TCGA-W5-AA39-01A-11D-A417-09 PPP1R1A 12 54976556 54976556 + Silent SNP C T g.chr12:54976556C>T c.207G>A p.R69R TCGA-W5-AA31-01A-11D-A417-09 PPP1R3A 7 113518127 113518127 + Missense_Mutation SNP G T g.chr7:113518127G>T c.3020C>A p.S1007Y TCGA-W5-AA34-01A-11D-A417-09 PPP1R3C 10 93390426 93390426 + Missense_Mutation SNP T C g.chr10:93390426T>C c.212A>G p.Q71R TCGA-W5-AA39-01A-11D-A417-09 PPP3CB 10 75255630 75255630 + Silent SNP C A g.chr10:75255630C>A c.18G>T p.P6P TCGA-W5-AA39-01A-11D-A417-09 PPP4R1 18 9559465 9559465 + Missense_Mutation SNP A C g.chr18:9559465A>C c.1980T>G p.N660K TCGA-W5-AA39-01A-11D-A417-09 PPP5C 19 46891939 46891939 + Missense_Mutation SNP G A g.chr19:46891939G>A c.1306G>A p.V436M TCGA-W5-AA39-01A-11D-A417-09 PPP6C 9 127915867 127915867 + Nonsense_Mutation SNP C T g.chr9:127915867C>T c.614G>A p.W205* TCGA-W5-AA2Q-01A-11D-A417-09 PPP6C 9 127933372 127933372 + Missense_Mutation SNP G A g.chr9:127933372G>A c.163C>T p.H55Y TCGA-W5-AA2R-01A-11D-A417-09 PPYR1 10 47087274 47087274 + Missense_Mutation SNP G T g.chr10:47087274G>T c.491G>T p.W164L TCGA-W5-AA2R-01A-11D-A417-09 PRAMEF12 1 12835030 12835030 + Missense_Mutation SNP C A g.chr1:12835030C>A c.20C>A p.P7H TCGA-W6-AA0S-01A-11D-A417-09 PRAMEF14 1 13669138 13669138 + Silent SNP A G g.chr1:13669138A>G c.1048T>C p.L350L TCGA-ZH-A8Y2-01A-11D-A417-09 PRB2 12 11546444 11546444 + Missense_Mutation SNP G T g.chr12:11546444G>T c.568C>A p.Q190K TCGA-ZH-A8Y8-01A-51D-A417-09 PRC1 15 91517385 91517385 + Missense_Mutation SNP G T g.chr15:91517385G>T c.1442C>A p.T481K TCGA-ZH-A8Y6-01A-11D-A417-09 PRCC 1 156756845 156756845 + Missense_Mutation SNP T A g.chr1:156756845T>A c.962T>A p.L321H TCGA-3X-AAVC-01A-21D-A417-09 PRDM1 6 106553700 106553700 + Missense_Mutation SNP C A g.chr6:106553700C>A c.1665C>A p.N555K TCGA-ZH-A8Y5-01A-11D-A417-09 PRDM10 11 129784863 129784863 + Silent SNP G T g.chr11:129784863G>T c.2577C>A p.L859L TCGA-ZH-A8Y5-01A-11D-A417-09 PRDM13 6 100062584 100062584 + Silent SNP A G g.chr6:100062584A>G c.2073A>G p.T691T TCGA-W5-AA39-01A-11D-A417-09 PRDM15 21 43279219 43279219 + Silent SNP T G g.chr21:43279219T>G c.1150A>C p.R384R TCGA-ZU-A8S4-01A-11D-A417-09 PRDM4 12 108145794 108145794 + Missense_Mutation SNP G T g.chr12:108145794G>T c.524C>A p.A175D TCGA-W5-AA38-01A-11D-A417-09 PRDM4 12 108145645 108145645 + Missense_Mutation SNP T C g.chr12:108145645T>C c.673A>G p.I225V TCGA-W5-AA39-01A-11D-A417-09 PRDM9 5 23527220 23527220 + Missense_Mutation SNP T C g.chr5:23527220T>C c.2023T>C p.W675R TCGA-W5-AA2T-01A-12D-A417-09 PRDM9 5 23527639 23527654 + Frame_Shift_Del DEL CAATAAGTCACACCTC - g.chr5:23527639_23527654delCAATAAGTCACACCTC c.2442_2457delCAATAAGTCACACCTC p.SNKSHL814fs TCGA-W5-AA39-01A-11D-A417-09 PRDM9 5 23527721 23527727 + Frame_Shift_Del DEL CGCAATA - g.chr5:23527721_23527727delCGCAATA c.2524_2530delCGCAATA p.RNK842fs TCGA-W5-AA39-01A-11D-A417-09 PRDM9 5 23527730 23527738 + In_Frame_Del DEL TCACACCTC - g.chr5:23527730_23527738delTCACACCTC c.2533_2541delTCACACCTC p.SHL845del TCGA-W5-AA39-01A-11D-A417-09 PRDX1 1 45984678 45984687 + Frame_Shift_Del DEL GGGGCAGGGT - g.chr1:45984678_45984687delGGGGCAGGGT c.29_38delACCCTGCCCC p.HPAP10fs TCGA-W5-AA39-01A-11D-A417-09 PREPL 2 44550432 44550432 + Missense_Mutation SNP C T g.chr2:44550432C>T c.1865G>A p.R622H TCGA-W5-AA30-01A-31D-A417-09 PREX1 20 47258999 47258999 + Silent SNP G T g.chr20:47258999G>T c.3630C>A p.I1210I TCGA-W5-AA34-01A-11D-A417-09 PREX2 8 68984774 68984774 + Missense_Mutation SNP C T g.chr8:68984774C>T c.1538C>T p.A513V TCGA-W5-AA2T-01A-12D-A417-09 PREX2 8 69129946 69129946 + Missense_Mutation SNP G A g.chr8:69129946G>A c.4700G>A p.R1567Q TCGA-W5-AA2U-01A-11D-A417-09 PRG4 1 186276262 186276262 + Missense_Mutation SNP A C g.chr1:186276262A>C c.1411A>C p.T471P TCGA-3X-AAV9-01A-72D-A417-09 PRG4 1 186276306 186276306 + Silent SNP T C g.chr1:186276306T>C c.1455T>C p.T485T TCGA-W5-AA2I-01A-32D-A417-09 PRG4 1 186277684 186277684 + Missense_Mutation SNP A G g.chr1:186277684A>G c.2833A>G p.T945A TCGA-W5-AA39-01A-11D-A417-09 PRG4 1 186276029 186276029 + Missense_Mutation SNP C A g.chr1:186276029C>A c.1178C>A p.P393H TCGA-ZH-A8Y4-01A-11D-A417-09 PRG4 1 186276262 186276262 + Missense_Mutation SNP A C g.chr1:186276262A>C c.1411A>C p.T471P TCGA-ZU-A8S4-01A-11D-A417-09 PRICKLE3 23 49034449 49034449 + Missense_Mutation SNP G T g.chrX:49034449G>T c.848C>A p.A283D TCGA-ZD-A8I3-01A-11D-A417-09 PRICKLE4 6 41751913 41751913 + Missense_Mutation SNP C G g.chr6:41751913C>G c.57C>G p.N19K TCGA-W5-AA39-01A-11D-A417-09 PRKAA2 1 57140104 57140107 + Frame_Shift_Del DEL AGAC - g.chr1:57140104_57140107delAGAC c.145_148delAGAC p.RQ49fs TCGA-ZH-A8Y2-01A-11D-A417-09 PRKAB2 1 146639504 146639504 + Silent SNP C G g.chr1:146639504C>G c.165G>C p.G55G TCGA-W5-AA39-01A-11D-A417-09 PRKCA 17 64685166 64685166 + Splice_Site SNP G A g.chr17:64685166G>A TCGA-3X-AAVC-01A-21D-A417-09 PRKCD 3 53217486 53217486 + Missense_Mutation SNP A C g.chr3:53217486A>C c.676A>C p.N226H TCGA-ZH-A8Y4-01A-11D-A417-09 PRKCI 3 169999040 169999040 + Missense_Mutation SNP G T g.chr3:169999040G>T c.969G>T p.Q323H TCGA-W5-AA31-01A-11D-A417-09 PRKCQ 10 6527117 6527117 + Missense_Mutation SNP T C g.chr10:6527117T>C c.1015A>G p.R339G TCGA-ZH-A8Y1-01A-11D-A417-09 PRKCSH 19 11558341 11558341 + Missense_Mutation SNP G C g.chr19:11558341G>C c.937G>C p.E313Q TCGA-W5-AA31-01A-11D-A417-09 PRKDC 8 48710796 48710796 + Splice_Site SNP A G g.chr8:48710796A>G TCGA-W5-AA2Z-01A-11D-A417-09 PRKDC 8 48842481 48842481 + Missense_Mutation SNP G T g.chr8:48842481G>T c.1984C>A p.L662I TCGA-W5-AA30-01A-31D-A417-09 PRKG1 10 54040674 54040674 + Missense_Mutation SNP G A g.chr10:54040674G>A c.1484G>A p.R495Q TCGA-ZH-A8Y1-01A-11D-A417-09 PRKG1 10 53893621 53893621 + Silent SNP C T g.chr10:53893621C>T c.912C>T p.N304N TCGA-ZH-A8Y8-01A-51D-A417-09 PRKRA 2 179306336 179306336 + Splice_Site SNP C T g.chr2:179306336C>T TCGA-3X-AAVA-01A-11D-A417-09 PRKX 23 3573313 3573313 + Missense_Mutation SNP G A g.chrX:3573313G>A c.476C>T p.A159V TCGA-W5-AA2G-01A-11D-A417-09 PRLH 2 238475690 238475690 + Missense_Mutation SNP G A g.chr2:238475690G>A c.136G>A p.G46R TCGA-YR-A95A-01A-12D-A417-09 PRM3 16 11367212 11367212 + IGR SNP G T g.chr16:11367212G>T TCGA-4G-AAZO-01A-12D-A417-09 PRMT3 11 20473693 20473693 + Missense_Mutation SNP T G g.chr11:20473693T>G c.1011T>G p.F337L TCGA-W6-AA0S-01A-11D-A417-09 PRMT3 11 20448337 20448337 + Missense_Mutation SNP A G g.chr11:20448337A>G c.919A>G p.T307A TCGA-ZH-A8Y5-01A-11D-A417-09 PRMT7 16 68355328 68355328 + Splice_Site SNP G T g.chr16:68355328G>T TCGA-3X-AAV9-01A-72D-A417-09 PRMT7 16 68380156 68380156 + Silent SNP T C g.chr16:68380156T>C c.1164T>C p.T388T TCGA-W5-AA39-01A-11D-A417-09 PROS1 3 93605209 93605209 + Silent SNP G T g.chr3:93605209G>T c.1294C>A p.R432R TCGA-WD-A7RX-01A-12D-A417-09 PROS1 3 93605180 93605180 + Splice_Site SNP C T g.chr3:93605180C>T c.1323G>A p.P441P TCGA-ZH-A8Y8-01A-51D-A417-09 PROZ 13 113814370 113814370 + Missense_Mutation SNP G T g.chr13:113814370G>T c.113G>T p.W38L TCGA-ZH-A8Y4-01A-11D-A417-09 PRPF18 10 13629126 13629126 + Silent SNP C T g.chr10:13629126C>T c.40C>T p.L14L TCGA-W5-AA2O-01A-11D-A417-09 PRPF38B 1 109238706 109238706 + Silent SNP T C g.chr1:109238706T>C c.387T>C p.F129F TCGA-W5-AA30-01A-31D-A417-09 PRPF39 14 45571897 45571897 + Silent SNP G A g.chr14:45571897G>A c.735G>A p.Q245Q TCGA-3X-AAVC-01A-21D-A417-09 PRPF39 14 45583442 45583442 + Missense_Mutation SNP A C g.chr14:45583442A>C c.1814A>C p.K605T TCGA-W5-AA39-01A-11D-A417-09 PRPF40A 2 153514468 153514468 + Missense_Mutation SNP C A g.chr2:153514468C>A c.2635G>T p.D879Y TCGA-W5-AA2X-01A-11D-A417-09 PRPS1 23 106885652 106885652 + Missense_Mutation SNP G T g.chrX:106885652G>T c.462G>T p.W154C TCGA-W5-AA2G-01A-11D-A417-09 PRPS1 23 106888557 106888557 + Silent SNP C T g.chrX:106888557C>T c.681C>T p.G227G TCGA-ZH-A8Y2-01A-11D-A417-09 PRR11 17 57247159 57247159 + Missense_Mutation SNP G A g.chr17:57247159G>A c.46G>A p.E16K TCGA-3X-AAV9-01A-72D-A417-09 PRR21 2 240981683 240981683 + Silent SNP A G g.chr2:240981683A>G c.717T>C p.H239H TCGA-W5-AA2O-01A-11D-A417-09 PRR22 19 5784655 5784655 + Missense_Mutation SNP G A g.chr19:5784655G>A c.17C>T p.P6L TCGA-3X-AAV9-01A-72D-A417-09 PRSS1 7 142460339 142460339 + Missense_Mutation SNP G A g.chr7:142460339G>A c.512G>A p.C171Y TCGA-W5-AA31-01A-11D-A417-09 PRSS1 7 142459667 142459667 + Silent SNP G A g.chr7:142459667G>A c.243G>A p.L81L TCGA-ZH-A8Y6-01A-11D-A417-09 PRSS12 4 119259352 119259352 + Missense_Mutation SNP A G g.chr4:119259352A>G c.620T>C p.I207T TCGA-WD-A7RX-01A-12D-A417-09 PRSS33 16 2835911 2835911 + Missense_Mutation SNP C A g.chr16:2835911C>A c.131G>T p.R44L TCGA-W5-AA2R-01A-11D-A417-09 PRSS37 7 141536247 141536247 + Missense_Mutation SNP G T g.chr7:141536247G>T c.656C>A p.T219N TCGA-ZH-A8Y8-01A-51D-A417-09 PRUNE2 9 79270373 79270373 + Silent SNP G T g.chr9:79270373G>T c.8322C>A p.G2774G TCGA-3X-AAVC-01A-21D-A417-09 PSAP 10 73588681 73588681 + Missense_Mutation SNP G T g.chr10:73588681G>T c.529C>A p.L177I TCGA-W5-AA2Z-01A-11D-A417-09 PSD 10 104172214 104172214 + Missense_Mutation SNP C T g.chr10:104172214C>T c.1672G>A p.A558T TCGA-W5-AA34-01A-11D-A417-09 PSD 10 104173619 104173619 + Missense_Mutation SNP G A g.chr10:104173619G>A c.1460C>T p.A487V TCGA-W5-AA38-01A-11D-A417-09 PSD3 8 18662106 18662106 + Missense_Mutation SNP T G g.chr8:18662106T>G c.1836A>C p.E612D TCGA-W5-AA39-01A-11D-A417-09 PSEN2 1 227076607 227076607 + Missense_Mutation SNP G A g.chr1:227076607G>A c.644G>A p.G215D TCGA-W5-AA2R-01A-11D-A417-09 PSG5 19 43674291 43674291 + Splice_Site SNP C T g.chr19:43674291C>T TCGA-W5-AA38-01A-11D-A417-09 PSG5 19 43690496 43690496 + Missense_Mutation SNP G A g.chr19:43690496G>A c.62C>T p.T21I TCGA-W5-AA39-01A-11D-A417-09 PSG6 19 43421937 43421937 + Missense_Mutation SNP G A g.chr19:43421937G>A c.8C>T p.P3L TCGA-W5-AA2G-01A-11D-A417-09 PSIP1 9 15468838 15468838 + Silent SNP G T g.chr9:15468838G>T c.1210C>A p.R404R TCGA-WD-A7RX-01A-12D-A417-09 PSKH2 8 87060845 87060845 + Missense_Mutation SNP G A g.chr8:87060845G>A c.1004C>T p.A335V TCGA-W5-AA39-01A-11D-A417-09 PSMA5 1 109964511 109964511 + Nonsense_Mutation SNP G A g.chr1:109964511G>A c.67C>T p.Q23* TCGA-3X-AAVE-01A-11D-A417-09 PSMA5 1 109944658 109944658 + Nonsense_Mutation SNP C A g.chr1:109944658C>A c.703G>T p.E235* TCGA-W5-AA2Q-01A-11D-A417-09 PSMB10 16 67968568 67968568 + Silent SNP G T g.chr16:67968568G>T c.717C>A p.G239G TCGA-W5-AA2U-01A-11D-A417-09 PSMC1 14 90736595 90736609 + In_Frame_Del DEL CGCATCTTTCAGATT - g.chr14:90736595_90736609delCGCATCTTTCAGATT c.1087_1101delCGCATCTTTCAGATT p.RIFQI363del TCGA-W5-AA39-01A-11D-A417-09 PSMD2 3 184023829 184023846 + Splice_Site DEL ATCTGTCCTGTAGGGAAG - g.chr3:184023829_184023846delATCTGTCCTGTAGGGAAG c.1702_1707delATCTGTCCTGTAGGGAAG p.IC568del TCGA-W5-AA2X-01A-11D-A417-09 PSMD9 12 122326825 122326825 + Silent SNP C T g.chr12:122326825C>T c.63C>T p.S21S TCGA-W5-AA39-01A-11D-A417-09 PSME4 2 54101581 54101581 + Silent SNP G T g.chr2:54101581G>T c.4995C>A p.L1665L TCGA-W5-AA2Q-01A-11D-A417-09 PSMF1 20 1108090 1108090 + Missense_Mutation SNP G A g.chr20:1108090G>A c.304G>A p.A102T TCGA-W5-AA38-01A-11D-A417-09 PSPC1 13 20277436 20277436 + Missense_Mutation SNP C T g.chr13:20277436C>T c.1451G>A p.G484D TCGA-W5-AA30-01A-31D-A417-09 PSTK 10 124742803 124742803 + Missense_Mutation SNP G A g.chr10:124742803G>A c.524G>A p.C175Y TCGA-W5-AA2W-01A-11D-A417-09 PSTPIP2 18 43578790 43578790 + Missense_Mutation SNP C T g.chr18:43578790C>T c.532G>A p.A178T TCGA-W5-AA38-01A-11D-A417-09 PTCD2 5 71630907 71630907 + Missense_Mutation SNP C G g.chr5:71630907C>G c.531C>G p.I177M TCGA-W5-AA30-01A-31D-A417-09 PTCH1 9 98229635 98229635 + Missense_Mutation SNP G T g.chr9:98229635G>T c.2323C>A p.L775M TCGA-W5-AA2X-01A-11D-A417-09 PTCH1 9 98242716 98242716 + Missense_Mutation SNP C T g.chr9:98242716C>T c.901G>A p.D301N TCGA-W6-AA0S-01A-11D-A417-09 PTCH2 1 45295102 45295102 + Missense_Mutation SNP G A g.chr1:45295102G>A c.1187C>T p.A396V TCGA-W5-AA2X-01A-11D-A417-09 PTCHD1 23 23411591 23411591 + Missense_Mutation SNP G T g.chrX:23411591G>T c.1956G>T p.K652N TCGA-3X-AAVB-01A-31D-A417-09 PTCHD2 1 11596598 11596598 + Missense_Mutation SNP C T g.chr1:11596598C>T c.4034C>T p.A1345V TCGA-ZH-A8Y2-01A-11D-A417-09 PTCHD3 10 27702894 27702923 + In_Frame_Del DEL GGGGTGCATCGTCCAGCTCCAGCGGCAGGC - g.chr10:27702894_27702923delGGGGTGCATCGTCCAGCTCCAGCGGCAGGC c.257_286delGCCTGCCGCTGGAGCTGGACGATGCACCCC p.RLPLELDDAP86del TCGA-W5-AA2H-01A-31D-A417-09 PTDSS2 11 488603 488603 + Silent SNP G A g.chr11:488603G>A c.810G>A p.L270L TCGA-W5-AA39-01A-11D-A417-09 PTEN 10 89720806 89720806 + Frame_Shift_Del DEL T - g.chr10:89720806delT c.957delT p.T319fs TCGA-W5-AA39-01A-11D-A417-09 PTEN 10 89720807 89720807 + Missense_Mutation SNP T G g.chr10:89720807T>G c.958T>G p.L320V TCGA-W5-AA39-01A-11D-A417-09 PTGER2 14 52781389 52781389 + Missense_Mutation SNP A G g.chr14:52781389A>G c.123A>G p.I41M TCGA-W5-AA39-01A-11D-A417-09 PTGER3 1 71512790 71512790 + Silent SNP C G g.chr1:71512790C>G c.471G>C p.L157L TCGA-W5-AA30-01A-31D-A417-09 PTGER4 5 40692076 40692076 + Missense_Mutation SNP C A g.chr5:40692076C>A c.1063C>A p.R355S TCGA-4G-AAZO-01A-12D-A417-09 PTGS1 9 125133501 125133501 + Missense_Mutation SNP T C g.chr9:125133501T>C c.44T>C p.L15P TCGA-W5-AA2Z-01A-11D-A417-09 PTH1R 3 46940168 46940168 + Missense_Mutation SNP C T g.chr3:46940168C>T c.655C>T p.R219C TCGA-ZH-A8Y4-01A-11D-A417-09 PTK2 8 141669627 141669627 + Missense_Mutation SNP T G g.chr8:141669627T>G c.3097A>C p.N1033H TCGA-W5-AA39-01A-11D-A417-09 PTPMT1 11 47591273 47591273 + Nonsense_Mutation SNP G T g.chr11:47591273G>T c.277G>T p.E93* TCGA-W5-AA39-01A-11D-A417-09 PTPN12 7 77230111 77230111 + Missense_Mutation SNP G T g.chr7:77230111G>T c.683G>T p.C228F TCGA-ZH-A8Y1-01A-11D-A417-09 PTPN13 4 87643569 87643569 + Missense_Mutation SNP G T g.chr4:87643569G>T c.1590G>T p.M530I TCGA-W5-AA2H-01A-31D-A417-09 PTPN14 1 214557314 214557314 + Silent SNP G A g.chr1:214557314G>A c.1884C>T p.L628L TCGA-3X-AAV9-01A-72D-A417-09 PTPN2 18 12802116 12802116 + Missense_Mutation SNP G T g.chr18:12802116G>T c.893C>A p.S298Y TCGA-W5-AA31-01A-11D-A417-09 PTPN21 14 88946343 88946343 + Missense_Mutation SNP C T g.chr14:88946343C>T c.1432G>A p.G478S TCGA-3X-AAVB-01A-31D-A417-09 PTPN3 9 112216792 112216792 + Missense_Mutation SNP G T g.chr9:112216792G>T c.352C>A p.Q118K TCGA-W5-AA2R-01A-11D-A417-09 PTPN3 9 112168774 112168774 + Missense_Mutation SNP G A g.chr9:112168774G>A c.1760C>T p.S587L TCGA-W5-AA39-01A-11D-A417-09 PTPN4 2 120684190 120684190 + Missense_Mutation SNP C A g.chr2:120684190C>A c.1018C>A p.Q340K TCGA-4G-AAZO-01A-12D-A417-09 PTPN4 2 120620118 120620118 + Missense_Mutation SNP G C g.chr2:120620118G>C c.145G>C p.D49H TCGA-ZU-A8S4-01A-11D-A417-09 PTPRA 20 2968722 2968722 + Missense_Mutation SNP G A g.chr20:2968722G>A c.545G>A p.R182H TCGA-ZD-A8I3-01A-11D-A417-09 PTPRC 1 198710997 198710997 + Splice_Site SNP G T g.chr1:198710997G>T TCGA-W5-AA2U-01A-11D-A417-09 PTPRD 9 8331583 8331583 + Splice_Site SNP T A g.chr9:8331583T>A c.5533A>T p.S1845C TCGA-W6-AA0S-01A-11D-A417-09 PTPRE 10 129875976 129875976 + Missense_Mutation SNP G T g.chr10:129875976G>T c.1821G>T p.M607I TCGA-W5-AA30-01A-31D-A417-09 PTPRE 10 129861358 129861358 + Nonsense_Mutation SNP G T g.chr10:129861358G>T c.637G>T p.E213* TCGA-YR-A95A-01A-12D-A417-09 PTPRF 1 44085499 44085499 + Missense_Mutation SNP A G g.chr1:44085499A>G c.5081A>G p.Y1694C TCGA-W5-AA2U-01A-11D-A417-09 PTPRG 3 62268423 62268423 + Missense_Mutation SNP C T g.chr3:62268423C>T c.3934C>T p.R1312W TCGA-W5-AA33-01A-11D-A417-09 PTPRH 19 55697250 55697250 + Missense_Mutation SNP G A g.chr19:55697250G>A c.2881C>T p.R961W TCGA-W5-AA2X-01A-11D-A417-09 PTPRJ 11 48168501 48168501 + Missense_Mutation SNP C A g.chr11:48168501C>A c.2985C>A p.F995L TCGA-4G-AAZO-01A-12D-A417-09 PTPRK 6 128304395 128304395 + Nonsense_Mutation SNP G A g.chr6:128304395G>A c.3376C>T p.Q1126* TCGA-W5-AA2X-01A-11D-A417-09 PTPRR 12 71139661 71139661 + Missense_Mutation SNP G A g.chr12:71139661G>A c.944C>T p.A315V TCGA-W5-AA2Q-01A-11D-A417-09 PTPRS 19 5218452 5218452 + Missense_Mutation SNP G T g.chr19:5218452G>T c.4027C>A p.R1343S TCGA-ZH-A8Y5-01A-11D-A417-09 PTTG1IP 21 46271541 46271541 + Splice_Site SNP G A g.chr21:46271541G>A c.498C>T p.G166G TCGA-W5-AA2O-01A-11D-A417-09 PTTG1IP 21 46271541 46271541 + Splice_Site SNP G T g.chr21:46271541G>T c.498C>A p.G166G TCGA-W5-AA34-01A-11D-A417-09 PUM1 1 31467928 31467928 + Missense_Mutation SNP C A g.chr1:31467928C>A c.860G>T p.G287V TCGA-4G-AAZO-01A-12D-A417-09 PUM1 1 31465481 31465481 + Missense_Mutation SNP G T g.chr1:31465481G>T c.914C>A p.S305Y TCGA-W5-AA2U-01A-11D-A417-09 PUM1 1 31437697 31437697 + Missense_Mutation SNP A C g.chr1:31437697A>C c.2147T>G p.L716R TCGA-W5-AA39-01A-11D-A417-09 PUM1 1 31437700 31437700 + Missense_Mutation SNP T C g.chr1:31437700T>C c.2144A>G p.D715G TCGA-W5-AA39-01A-11D-A417-09 PUM2 2 20482963 20482963 + Missense_Mutation SNP T G g.chr2:20482963T>G c.1465A>C p.S489R TCGA-W5-AA39-01A-11D-A417-09 PVR 19 45162133 45162133 + Missense_Mutation SNP G T g.chr19:45162133G>T c.1115G>T p.R372L TCGA-W5-AA30-01A-31D-A417-09 PVRL3 3 110852607 110852607 + Missense_Mutation SNP G T g.chr3:110852607G>T c.1195G>T p.D399Y TCGA-ZH-A8Y4-01A-11D-A417-09 PWP1 12 108097519 108097519 + Missense_Mutation SNP G A g.chr12:108097519G>A c.961G>A p.D321N TCGA-4G-AAZO-01A-12D-A417-09 PXDN 2 1670036 1670036 + Missense_Mutation SNP G A g.chr2:1670036G>A c.1241C>T p.A414V TCGA-W5-AA2T-01A-12D-A417-09 PXDN 2 1658220 1658220 + Missense_Mutation SNP G A g.chr2:1658220G>A c.1898C>T p.A633V TCGA-ZH-A8Y1-01A-11D-A417-09 PXDN 2 1668821 1668821 + Silent SNP A G g.chr2:1668821A>G c.1317T>C p.P439P TCGA-ZH-A8Y4-01A-11D-A417-09 PXDNL 8 52321348 52321348 + Nonsense_Mutation SNP G A g.chr8:52321348G>A c.2836C>T p.R946* TCGA-W5-AA2O-01A-11D-A417-09 PXDNL 8 52361599 52361599 + Missense_Mutation SNP G T g.chr8:52361599G>T c.1329C>A p.D443E TCGA-W5-AA2U-01A-11D-A417-09 PXK 3 58395275 58395275 + Missense_Mutation SNP G T g.chr3:58395275G>T c.1325G>T p.R442I TCGA-3X-AAVA-01A-11D-A417-09 PXMP4 20 32295759 32295759 + Missense_Mutation SNP A G g.chr20:32295759A>G c.392T>C p.L131S TCGA-W5-AA39-01A-11D-A417-09 PXMP4 20 32298495 32298502 + Frame_Shift_Del DEL ACCGTGCC - g.chr20:32298495_32298502delACCGTGCC c.234_241delGGCACGGT p.ARF79fs TCGA-ZH-A8Y8-01A-51D-A417-09 PYGB 20 25269107 25269107 + Missense_Mutation SNP G T g.chr20:25269107G>T c.1815G>T p.M605I TCGA-ZU-A8S4-01A-11D-A417-09 PYGM 11 64514795 64514795 + Missense_Mutation SNP T G g.chr11:64514795T>G c.2213A>C p.E738A TCGA-W5-AA39-01A-11D-A417-09 PZP 12 9356365 9356365 + Splice_Site SNP G T g.chr12:9356365G>T c.266C>A p.T89N TCGA-YR-A95A-01A-12D-A417-09 QARS 3 49137444 49137444 + Silent SNP A G g.chr3:49137444A>G c.1245T>C p.P415P TCGA-ZH-A8Y1-01A-11D-A417-09 QPCT 2 37586829 37586829 + Missense_Mutation SNP G T g.chr2:37586829G>T c.374G>T p.S125I TCGA-W5-AA34-01A-11D-A417-09 QPRT 16 29706151 29706151 + Missense_Mutation SNP C G g.chr16:29706151C>G c.180C>G p.F60L TCGA-W5-AA39-01A-11D-A417-09 QRFPR 4 122301568 122301568 + Missense_Mutation SNP C T g.chr4:122301568C>T c.235G>A p.V79I TCGA-ZH-A8Y4-01A-11D-A417-09 QSER1 11 32956871 32956871 + Missense_Mutation SNP C T g.chr11:32956871C>T c.3680C>T p.S1227F TCGA-WD-A7RX-01A-12D-A417-09 R3HDM2 12 57663156 57663156 + Missense_Mutation SNP G A g.chr12:57663156G>A c.1622C>T p.A541V TCGA-W5-AA34-01A-11D-A417-09 R3HDM2 12 57682695 57682711 + Splice_Site DEL TGTTGGTTAACATCAAA - g.chr12:57682695_57682711delTGTTGGTTAACATCAAA TCGA-W5-AA39-01A-11D-A417-09 RAB11B 19 8467101 8467101 + Missense_Mutation SNP G A g.chr19:8467101G>A c.368G>A p.G123D TCGA-W5-AA2U-01A-11D-A417-09 RAB11B 19 8467132 8467132 + Silent SNP T C g.chr19:8467132T>C c.399T>C p.A133A TCGA-W5-AA39-01A-11D-A417-09 RAB27B 18 52556641 52556641 + Nonsense_Mutation SNP C A g.chr18:52556641C>A c.654C>A p.C218* TCGA-W5-AA39-01A-11D-A417-09 RAB3B 1 52385603 52385603 + Missense_Mutation SNP C A g.chr1:52385603C>A c.656G>T p.C219F TCGA-W5-AA2W-01A-11D-A417-09 RAB3GAP2 1 220379290 220379290 + Missense_Mutation SNP A G g.chr1:220379290A>G c.671T>C p.L224P TCGA-W5-AA38-01A-11D-A417-09 RAB3IP 12 70178544 70178544 + Silent SNP G T g.chr12:70178544G>T c.555G>T p.V185V TCGA-W5-AA2W-01A-11D-A417-09 RAB6A 11 73427372 73427372 + Missense_Mutation SNP C G g.chr11:73427372C>G c.325G>C p.D109H TCGA-W5-AA39-01A-11D-A417-09 RABEP2 16 28936433 28936435 + In_Frame_Del DEL GCC - g.chr16:28936433_28936435delGCC c.50_52delGGC p.R17del TCGA-W5-AA2R-01A-11D-A417-09 RABGAP1 9 125760961 125760961 + Silent SNP C G g.chr9:125760961C>G c.1290C>G p.V430V TCGA-W5-AA39-01A-11D-A417-09 RABGAP1 9 125836700 125836700 + Missense_Mutation SNP T C g.chr9:125836700T>C c.2246T>C p.L749S TCGA-W5-AA39-01A-11D-A417-09 RABGAP1 9 125752410 125752411 + Missense_Mutation DNP GC CT g.chr9:125752410_125752411GC>CT c.841_842GC>CT p.A281L TCGA-ZU-A8S4-01A-11D-A417-09 RABGEF1 7 66270137 66270137 + Missense_Mutation SNP A C g.chr7:66270137A>C c.831A>C p.E277D TCGA-W5-AA39-01A-11D-A417-09 RACGAP1 12 50395035 50395035 + Splice_Site SNP G T g.chr12:50395035G>T c.550C>A p.R184S TCGA-4G-AAZO-01A-12D-A417-09 RAD17 5 68680714 68680714 + Missense_Mutation SNP T A g.chr5:68680714T>A c.632T>A p.M211K TCGA-W5-AA39-01A-11D-A417-09 RAD50 5 131931434 131931434 + Silent SNP G A g.chr5:131931434G>A c.2139G>A p.K713K TCGA-W5-AA39-01A-11D-A417-09 RAD50 5 131927041 131927041 + Missense_Mutation SNP G T g.chr5:131927041G>T c.1578G>T p.E526D TCGA-ZH-A8Y6-01A-11D-A417-09 RAD51AP2 2 17698681 17698681 + Silent SNP G T g.chr2:17698681G>T c.1002C>A p.L334L TCGA-W5-AA2R-01A-11D-A417-09 RAD54B 8 95479633 95479633 + Splice_Site SNP C T g.chr8:95479633C>T c.135G>A p.E45E TCGA-W5-AA34-01A-11D-A417-09 RAD54L 1 46733249 46733249 + Missense_Mutation SNP G T g.chr1:46733249G>T c.1010G>T p.S337I TCGA-W5-AA2G-01A-11D-A417-09 RAD54L2 3 51696927 51696927 + Missense_Mutation SNP G T g.chr3:51696927G>T c.3895G>T p.V1299F TCGA-W5-AA31-01A-11D-A417-09 RAD54L2 3 51675865 51675865 + Nonsense_Mutation SNP C T g.chr3:51675865C>T c.2332C>T p.R778* TCGA-W5-AA34-01A-11D-A417-09 RAD54L2 3 51697126 51697126 + Missense_Mutation SNP G A g.chr3:51697126G>A c.4094G>A p.S1365N TCGA-WD-A7RX-01A-12D-A417-09 RAD54L2 3 51624525 51624525 + Missense_Mutation SNP A T g.chr3:51624525A>T c.89A>T p.E30V TCGA-ZH-A8Y8-01A-51D-A417-09 RAG1 11 36597457 36597457 + Missense_Mutation SNP C T g.chr11:36597457C>T c.2603C>T p.A868V TCGA-W5-AA34-01A-11D-A417-09 RALGAPA1 14 36094620 36094620 + Silent SNP C T g.chr14:36094620C>T c.5358G>A p.L1786L TCGA-W5-AA2R-01A-11D-A417-09 RALGAPA1 14 36123575 36123575 + Missense_Mutation SNP G T g.chr14:36123575G>T c.4087C>A p.Q1363K TCGA-W5-AA2U-01A-11D-A417-09 RALGAPA1 14 36192384 36192384 + Silent SNP C T g.chr14:36192384C>T c.1953G>A p.S651S TCGA-WD-A7RX-01A-12D-A417-09 RALGAPB 20 37191223 37191223 + Nonsense_Mutation SNP G T g.chr20:37191223G>T c.3580G>T p.E1194* TCGA-W5-AA2G-01A-11D-A417-09 RALGAPB 20 37117260 37117260 + Splice_Site SNP A C g.chr20:37117260A>C c.185A>C p.E62A TCGA-W5-AA39-01A-11D-A417-09 RALGPS2 1 178745908 178745908 + Silent SNP A C g.chr1:178745908A>C c.9A>C p.L3L TCGA-W5-AA39-01A-11D-A417-09 RAMP3 7 45197468 45197470 + In_Frame_Del DEL TGC - g.chr7:45197468_45197470delTGC c.41_43delTGC p.14_15LL>L TCGA-W5-AA2R-01A-11D-A417-09 RAN 12 131359125 131359125 + Silent SNP G A g.chr12:131359125G>A c.282G>A p.S94S TCGA-3X-AAVB-01A-31D-A417-09 RANBP2 2 109379749 109379749 + Silent SNP G A g.chr2:109379749G>A c.2754G>A p.P918P TCGA-ZU-A8S4-01A-11D-A417-09 RAPGEF2 4 160262761 160262761 + Missense_Mutation SNP T G g.chr4:160262761T>G c.2097T>G p.D699E TCGA-W5-AA39-01A-11D-A417-09 RAPGEF3 12 48131422 48131422 + Silent SNP A T g.chr12:48131422A>T c.2700T>A p.A900A TCGA-W5-AA39-01A-11D-A417-09 RAPSN 11 47464331 47464331 + Silent SNP C G g.chr11:47464331C>G c.567G>C p.A189A TCGA-W5-AA39-01A-11D-A417-09 RARA 17 38510560 38510560 + Missense_Mutation SNP C T g.chr17:38510560C>T c.814C>T p.R272W TCGA-ZH-A8Y6-01A-11D-A417-09 RARG 12 53607314 53607314 + Silent SNP T A g.chr12:53607314T>A c.984A>T p.T328T TCGA-W5-AA39-01A-11D-A417-09 RASA1 5 86672323 86672323 + Nonsense_Mutation SNP C T g.chr5:86672323C>T c.2125C>T p.R709* TCGA-3X-AAV9-01A-72D-A417-09 RASAL2 1 178408564 178408564 + Missense_Mutation SNP G A g.chr1:178408564G>A c.238G>A p.G80R TCGA-W5-AA2I-01A-32D-A417-09 RASAL3 19 15572380 15572380 + Missense_Mutation SNP G T g.chr19:15572380G>T c.367C>A p.Q123K TCGA-ZH-A8Y4-01A-11D-A417-09 RASGRP2 11 64509528 64509528 + Missense_Mutation SNP G T g.chr11:64509528G>T c.130C>A p.P44T TCGA-4G-AAZO-01A-12D-A417-09 RB1CC1 8 53568653 53568653 + Silent SNP G A g.chr8:53568653G>A c.3736C>T p.L1246L TCGA-W5-AA39-01A-11D-A417-09 RB1CC1 8 53570077 53570077 + Missense_Mutation SNP G T g.chr8:53570077G>T c.2312C>A p.A771E TCGA-ZD-A8I3-01A-11D-A417-09 RB1CC1 8 53554933 53554933 + Missense_Mutation SNP C G g.chr8:53554933C>G c.4315G>C p.E1439Q TCGA-ZH-A8Y6-01A-11D-A417-09 RBBP6 16 24582226 24582226 + Missense_Mutation SNP G T g.chr16:24582226G>T c.3839G>T p.R1280L TCGA-W5-AA2H-01A-31D-A417-09 RBL1 20 35651208 35651208 + Missense_Mutation SNP G A g.chr20:35651208G>A c.2404C>T p.R802C TCGA-ZH-A8Y2-01A-11D-A417-09 RBL2 16 53513070 53513070 + Missense_Mutation SNP C A g.chr16:53513070C>A c.2708C>A p.T903K TCGA-W5-AA2I-01A-32D-A417-09 RBM10 23 47030429 47030429 + Silent SNP T C g.chrX:47030429T>C c.204T>C p.D68D TCGA-W5-AA39-01A-11D-A417-09 RBM15B 3 51430852 51430853 + Frame_Shift_Del DEL CT - g.chr3:51430852_51430853delCT c.2022_2023delCT p.S676fs TCGA-W5-AA2I-01A-32D-A417-09 RBM25 14 73538375 73538375 + Missense_Mutation SNP G T g.chr14:73538375G>T c.26G>T p.R9L TCGA-W5-AA2T-01A-12D-A417-09 RBM25 14 73576153 73576153 + Missense_Mutation SNP C T g.chr14:73576153C>T c.1645C>T p.R549C TCGA-ZH-A8Y4-01A-11D-A417-09 RBM26 13 79918911 79918911 + Missense_Mutation SNP C T g.chr13:79918911C>T c.2077G>A p.G693S TCGA-W5-AA2I-01A-32D-A417-09 RBM27 5 145610369 145610369 + Missense_Mutation SNP C G g.chr5:145610369C>G c.739C>G p.H247D TCGA-ZH-A8Y8-01A-51D-A417-09 RBM4 11 66410945 66410945 + Missense_Mutation SNP C T g.chr11:66410945C>T c.437C>T p.S146F TCGA-W5-AA39-01A-11D-A417-09 RBM42 19 36123879 36123879 + Missense_Mutation SNP G T g.chr19:36123879G>T c.484G>T p.V162F TCGA-ZH-A8Y4-01A-11D-A417-09 RBM47 4 40434693 40434693 + Missense_Mutation SNP G T g.chr4:40434693G>T c.1517C>A p.T506N TCGA-W5-AA2O-01A-11D-A417-09 RBM5 3 50143035 50143035 + Missense_Mutation SNP G T g.chr3:50143035G>T c.748G>T p.A250S TCGA-W5-AA2Z-01A-11D-A417-09 RBMS1 2 161157164 161157164 + Missense_Mutation SNP G T g.chr2:161157164G>T c.638C>A p.S213Y TCGA-W5-AA30-01A-31D-A417-09 RBMS2 12 56982715 56982715 + Splice_Site SNP G T g.chr12:56982715G>T TCGA-ZH-A8Y6-01A-11D-A417-09 RBMX 23 135958704 135958704 + Missense_Mutation SNP G C g.chrX:135958704G>C c.499C>G p.P167A TCGA-3X-AAVE-01A-11D-A417-09 RBMX 23 135958731 135958731 + Missense_Mutation SNP C A g.chrX:135958731C>A c.472G>T p.G158W TCGA-4G-AAZO-01A-12D-A417-09 RBMX 23 135956307 135956307 + Silent SNP T C g.chrX:135956307T>C c.1170A>G p.R390R TCGA-ZH-A8Y1-01A-11D-A417-09 RBP2 3 139173596 139173596 + Missense_Mutation SNP C A g.chr3:139173596C>A c.329G>T p.W110L TCGA-W5-AA31-01A-11D-A417-09 RC3H2 9 125613429 125613429 + Missense_Mutation SNP G T g.chr9:125613429G>T c.3311C>A p.P1104Q TCGA-W5-AA2X-01A-11D-A417-09 RCCD1 15 91504867 91504867 + Silent SNP C T g.chr15:91504867C>T c.999C>T p.G333G TCGA-W5-AA2Q-01A-11D-A417-09 RCOR1 14 103173699 103173699 + Missense_Mutation SNP G A g.chr14:103173699G>A c.501G>A p.M167I TCGA-W5-AA39-01A-11D-A417-09 RD3 1 211652604 211652604 + Missense_Mutation SNP A G g.chr1:211652604A>G c.362T>C p.V121A TCGA-3X-AAVE-01A-11D-A417-09 RDH12 14 68195982 68195982 + Missense_Mutation SNP T A g.chr14:68195982T>A c.733T>A p.C245S TCGA-W5-AA2Q-01A-11D-A417-09 RDX 11 110124822 110124822 + Missense_Mutation SNP A T g.chr11:110124822A>T c.808T>A p.Y270N TCGA-W5-AA39-01A-11D-A417-09 RECK 9 36091179 36091179 + Silent SNP T G g.chr9:36091179T>G c.924T>G p.L308L TCGA-W5-AA39-01A-11D-A417-09 RECQL4 8 145739898 145739898 + Silent SNP C T g.chr8:145739898C>T c.1632G>A p.L544L TCGA-ZH-A8Y2-01A-11D-A417-09 REEP2 5 137776731 137776731 + Missense_Mutation SNP C T g.chr5:137776731C>T c.59C>T p.A20V TCGA-W5-AA2R-01A-11D-A417-09 REG3G 2 79253292 79253292 + Missense_Mutation SNP C A g.chr2:79253292C>A c.73C>A p.Q25K TCGA-W5-AA2T-01A-12D-A417-09 REL 2 61149151 61149151 + Silent SNP G C g.chr2:61149151G>C c.1341G>C p.L447L TCGA-W5-AA39-01A-11D-A417-09 RELB 19 45532159 45532159 + Silent SNP A G g.chr19:45532159A>G c.900A>G p.T300T TCGA-3X-AAVA-01A-11D-A417-09 RELN 7 103124180 103124180 + Silent SNP G A g.chr7:103124180G>A c.10101C>T p.N3367N TCGA-W5-AA30-01A-31D-A417-09 RET 10 43601837 43601837 + Missense_Mutation SNP C T g.chr10:43601837C>T c.881C>T p.A294V TCGA-W5-AA39-01A-11D-A417-09 REV3L 6 111636540 111636540 + Missense_Mutation SNP T G g.chr6:111636540T>G c.8396A>C p.K2799T TCGA-W5-AA2G-01A-11D-A417-09 REV3L 6 111697468 111697468 + Missense_Mutation SNP G T g.chr6:111697468G>T c.2090C>A p.P697H TCGA-W5-AA34-01A-11D-A417-09 REXO2 11 114310340 114310340 + Silent SNP C T g.chr11:114310340C>T c.90C>T p.G30G TCGA-W5-AA2Q-01A-11D-A417-09 REXO4 9 136279959 136279959 + Missense_Mutation SNP G T g.chr9:136279959G>T c.398C>A p.P133H TCGA-ZH-A8Y4-01A-11D-A417-09 RFC2 7 73661064 73661064 + Missense_Mutation SNP T G g.chr7:73661064T>G c.362A>C p.K121T TCGA-W5-AA39-01A-11D-A417-09 RFC3 13 34398073 34398073 + Missense_Mutation SNP T A g.chr13:34398073T>A c.245T>A p.I82N TCGA-W5-AA31-01A-11D-A417-09 RFESD 5 94991955 94991955 + Missense_Mutation SNP A G g.chr5:94991955A>G c.416A>G p.K139R TCGA-3X-AAVC-01A-21D-A417-09 RFWD2 1 175956191 175956191 + Missense_Mutation SNP G T g.chr1:175956191G>T c.2021C>A p.T674N TCGA-3X-AAVE-01A-11D-A417-09 RFWD3 16 74670304 74670304 + Missense_Mutation SNP A C g.chr16:74670304A>C c.1366T>G p.C456G TCGA-W5-AA39-01A-11D-A417-09 RFWD3 16 74685875 74685875 + Missense_Mutation SNP C T g.chr16:74685875C>T c.664G>A p.A222T TCGA-YR-A95A-01A-12D-A417-09 RFX4 12 107103190 107103190 + Nonsense_Mutation SNP C T g.chr12:107103190C>T c.916C>T p.R306* TCGA-W5-AA2R-01A-11D-A417-09 RG9MTD2 4 100477351 100477351 + Silent SNP C T g.chr4:100477351C>T c.447G>A p.Q149Q TCGA-W5-AA2I-01A-32D-A417-09 RGPD5 2 113147025 113147025 + Missense_Mutation SNP C T g.chr2:113147025C>T c.3497G>A p.C1166Y TCGA-W5-AA2R-01A-11D-A417-09 RGS11 16 320814 320814 + Silent SNP G A g.chr16:320814G>A c.996C>T p.F332F TCGA-ZH-A8Y6-01A-11D-A417-09 RGS20 8 54852270 54852270 + Nonsense_Mutation SNP T A g.chr8:54852270T>A c.645T>A p.C215* TCGA-ZD-A8I3-01A-11D-A417-09 RGS3 9 116356551 116356551 + Intron SNP A G g.chr9:116356551A>G TCGA-W5-AA39-01A-11D-A417-09 RGS7 1 240979680 240979680 + Silent SNP G A g.chr1:240979680G>A c.720C>T p.H240H TCGA-W5-AA2G-01A-11D-A417-09 RGS7BP 5 63802565 63802565 + Silent SNP C T g.chr5:63802565C>T c.114C>T p.S38S TCGA-W5-AA2R-01A-11D-A417-09 RGS8 1 182640815 182640815 + De_novo_Start_OutOfFrame SNP C A g.chr1:182640815C>A TCGA-W5-AA2I-01A-32D-A417-09 RHAG 6 49574864 49574864 + Splice_Site SNP T G g.chr6:49574864T>G c.1137A>C p.T379T TCGA-W5-AA39-01A-11D-A417-09 RHBDL3 17 30621346 30621346 + Missense_Mutation SNP G T g.chr17:30621346G>T c.553G>T p.G185C TCGA-ZH-A8Y5-01A-11D-A417-09 RHOBTB1 10 62648582 62648582 + Missense_Mutation SNP G C g.chr10:62648582G>C c.844C>G p.R282G TCGA-ZU-A8S4-01A-11D-A417-09 RHOBTB3 5 95099223 95099223 + Missense_Mutation SNP T G g.chr5:95099223T>G c.1060T>G p.W354G TCGA-4G-AAZT-01A-11D-A417-09 RHPN1 8 144462004 144462004 + Silent SNP A G g.chr8:144462004A>G c.951A>G p.A317A TCGA-W5-AA39-01A-11D-A417-09 RHPN2 19 33517507 33517507 + Missense_Mutation SNP C T g.chr19:33517507C>T c.217G>A p.V73M TCGA-YR-A95A-01A-12D-A417-09 RICH2 17 12852466 12852466 + Nonsense_Mutation SNP C T g.chr17:12852466C>T c.871C>T p.R291* TCGA-ZH-A8Y8-01A-51D-A417-09 RICTOR 5 38946582 38946582 + Missense_Mutation SNP G T g.chr5:38946582G>T c.4387C>A p.H1463N TCGA-W5-AA2Q-01A-11D-A417-09 RIMBP3 22 20458094 20458094 + Missense_Mutation SNP C G g.chr22:20458094C>G c.3208G>C p.G1070R TCGA-W5-AA39-01A-11D-A417-09 RIMS1 6 72892048 72892048 + Missense_Mutation SNP C T g.chr6:72892048C>T c.874C>T p.R292C TCGA-W5-AA2U-01A-11D-A417-09 RIMS2 8 104897649 104897649 + Silent SNP T G g.chr8:104897649T>G c.156T>G p.A52A TCGA-W5-AA38-01A-11D-A417-09 RIN2 20 19956130 19956130 + Silent SNP C T g.chr20:19956130C>T c.1608C>T p.F536F TCGA-ZH-A8Y6-01A-11D-A417-09 RIOK2 5 96504525 96504525 + Missense_Mutation SNP C A g.chr5:96504525C>A c.811G>T p.D271Y TCGA-W5-AA2I-01A-32D-A417-09 RIOK2 5 96503500 96503500 + Silent SNP C A g.chr5:96503500C>A c.1068G>T p.R356R TCGA-W5-AA2U-01A-11D-A417-09 RIT1 1 155880452 155880452 + Missense_Mutation SNP T A g.chr1:155880452T>A c.101A>T p.K34M TCGA-W5-AA39-01A-11D-A417-09 RLTPR 16 67681421 67681421 + Nonsense_Mutation SNP C T g.chr16:67681421C>T c.787C>T p.R263* TCGA-W5-AA2G-01A-11D-A417-09 RMND1 6 151738443 151738443 + Missense_Mutation SNP G T g.chr6:151738443G>T c.1171C>A p.Q391K TCGA-W5-AA2Q-01A-11D-A417-09 RNF103 2 86831421 86831421 + Missense_Mutation SNP T C g.chr2:86831421T>C c.1603A>G p.T535A TCGA-YR-A95A-01A-12D-A417-09 RNF103 2 86831626 86831626 + Silent SNP G T g.chr2:86831626G>T c.1398C>A p.L466L TCGA-ZH-A8Y6-01A-11D-A417-09 RNF112 17 19319066 19319066 + Missense_Mutation SNP A G g.chr17:19319066A>G c.1474A>G p.T492A TCGA-ZH-A8Y1-01A-11D-A417-09 RNF138 18 29672848 29672848 + Splice_Site SNP G T g.chr18:29672848G>T c.109G>T p.V37F TCGA-ZH-A8Y6-01A-11D-A417-09 RNF14 5 141353306 141353306 + Splice_Site SNP C T g.chr5:141353306C>T c.153C>T p.S51S TCGA-4G-AAZT-01A-11D-A417-09 RNF160 21 30332965 30332965 + Missense_Mutation SNP C T g.chr21:30332965C>T c.2227G>A p.E743K TCGA-4G-AAZT-01A-11D-A417-09 RNF160 21 30339206 30339206 + Missense_Mutation SNP T A g.chr21:30339206T>A c.1607A>T p.N536I TCGA-ZH-A8Y5-01A-11D-A417-09 RNF165 18 44015312 44015312 + Silent SNP C T g.chr18:44015312C>T c.438C>T p.G146G TCGA-W5-AA39-01A-11D-A417-09 RNF180 5 63621158 63621158 + Missense_Mutation SNP G T g.chr5:63621158G>T c.1373G>T p.R458L TCGA-W5-AA2I-01A-32D-A417-09 RNF19B 1 33409664 33409664 + Missense_Mutation SNP T G g.chr1:33409664T>G c.1361A>C p.K454T TCGA-W5-AA39-01A-11D-A417-09 RNF208 9 140114946 140114946 + Missense_Mutation SNP C A g.chr9:140114946C>A c.719G>T p.R240L TCGA-W5-AA2I-01A-32D-A417-09 RNF213 17 78302195 78302195 + Missense_Mutation SNP G T g.chr17:78302195G>T c.3435G>T p.E1145D TCGA-W5-AA2Q-01A-11D-A417-09 RNF213 17 78325495 78325495 + Missense_Mutation SNP A G g.chr17:78325495A>G c.10195A>G p.I3399V TCGA-ZH-A8Y6-01A-11D-A417-09 RNF220 1 44877854 44877854 + Missense_Mutation SNP G A g.chr1:44877854G>A c.85G>A p.A29T TCGA-ZU-A8S4-01A-11D-A417-09 RNF38 9 36376031 36376031 + Missense_Mutation SNP G T g.chr9:36376031G>T c.256C>A p.P86T TCGA-3X-AAVB-01A-31D-A417-09 RNPEP 1 201965299 201965299 + Silent SNP C T g.chr1:201965299C>T c.762C>T p.C254C TCGA-3X-AAVA-01A-11D-A417-09 RNPS1 16 2314620 2314620 + Missense_Mutation SNP T C g.chr16:2314620T>C c.25A>G p.K9E TCGA-W5-AA39-01A-11D-A417-09 ROBLD3 1 156024684 156024684 + Silent SNP C T g.chr1:156024684C>T c.4C>T p.L2L TCGA-3X-AAVC-01A-21D-A417-09 ROBO4 11 124763789 124763789 + Missense_Mutation SNP G A g.chr11:124763789G>A c.1471C>T p.R491C TCGA-3X-AAVA-01A-11D-A417-09 ROCK1 18 18608854 18608854 + Missense_Mutation SNP G C g.chr18:18608854G>C c.1094C>G p.T365S TCGA-3X-AAV9-01A-72D-A417-09 ROCK1 18 18629827 18629827 + Missense_Mutation SNP T A g.chr18:18629827T>A c.190A>T p.N64Y TCGA-3X-AAVA-01A-11D-A417-09 ROMO1 20 34287659 34287659 + Silent SNP G A g.chr20:34287659G>A c.105G>A p.A35A TCGA-W5-AA39-01A-11D-A417-09 ROR1 1 64603123 64603123 + Missense_Mutation SNP G A g.chr1:64603123G>A c.554G>A p.R185H TCGA-W5-AA2I-01A-32D-A417-09 ROR2 9 94487167 94487167 + Missense_Mutation SNP C T g.chr9:94487167C>T c.1609G>A p.V537I TCGA-W5-AA2U-01A-11D-A417-09 RORB 9 77300435 77300435 + Silent SNP G T g.chr9:77300435G>T c.1314G>T p.L438L TCGA-W5-AA31-01A-11D-A417-09 ROS1 6 117715380 117715380 + Missense_Mutation SNP G T g.chr6:117715380G>T c.1109C>A p.S370Y TCGA-W5-AA2G-01A-11D-A417-09 ROS1 6 117663599 117663599 + Missense_Mutation SNP G A g.chr6:117663599G>A c.4633C>T p.P1545S TCGA-ZH-A8Y1-01A-11D-A417-09 RP1 8 55537426 55537426 + Silent SNP C T g.chr8:55537426C>T c.984C>T p.D328D TCGA-W5-AA38-01A-11D-A417-09 RP1 8 55542175 55542175 + Silent SNP T C g.chr8:55542175T>C c.5733T>C p.Y1911Y TCGA-YR-A95A-01A-12D-A417-09 RPAP2 1 92789386 92789386 + Missense_Mutation SNP C A g.chr1:92789386C>A c.909C>A p.S303R TCGA-ZH-A8Y5-01A-11D-A417-09 RPAP3 12 48062853 48062853 + Missense_Mutation SNP T C g.chr12:48062853T>C c.1559A>G p.Q520R TCGA-3X-AAVA-01A-11D-A417-09 RPF1 1 84948633 84948633 + Silent SNP C T g.chr1:84948633C>T c.321C>T p.N107N TCGA-ZH-A8Y8-01A-51D-A417-09 RPGRIP1L 16 53726057 53726057 + Nonsense_Mutation SNP G T g.chr16:53726057G>T c.450C>A p.Y150* TCGA-ZH-A8Y6-01A-11D-A417-09 RPH3A 12 113266158 113266158 + Missense_Mutation SNP G A g.chr12:113266158G>A c.35G>A p.R12H TCGA-W5-AA2Q-01A-11D-A417-09 RPL10A 6 35438392 35438392 + Missense_Mutation SNP G T g.chr6:35438392G>T c.519G>T p.K173N TCGA-3X-AAVB-01A-31D-A417-09 RPL36A 23 100646777 100646777 + Nonsense_Mutation SNP T G g.chrX:100646777T>G c.144T>G p.Y48* TCGA-W5-AA2U-01A-11D-A417-09 RPRD1B 20 36694651 36694651 + Missense_Mutation SNP A C g.chr20:36694651A>C c.824A>C p.K275T TCGA-W5-AA39-01A-11D-A417-09 RPRD1B 20 36687879 36687879 + Silent SNP G T g.chr20:36687879G>T c.612G>T p.L204L TCGA-ZH-A8Y1-01A-11D-A417-09 RPRD2 1 150445250 150445250 + Missense_Mutation SNP C T g.chr1:150445250C>T c.3826C>T p.P1276S TCGA-W5-AA2Z-01A-11D-A417-09 RPS10 6 34392484 34392484 + Missense_Mutation SNP C G g.chr6:34392484C>G c.284G>C p.R95P TCGA-W5-AA31-01A-11D-A417-09 RPS12 6 133137642 133137642 + Missense_Mutation SNP G T g.chr6:133137642G>T c.174G>T p.E58D TCGA-W5-AA39-01A-11D-A417-09 RPS21 20 60962906 60962906 + Missense_Mutation SNP A G g.chr20:60962906A>G c.122A>G p.K41R TCGA-W5-AA2H-01A-31D-A417-09 RPS24 10 79814760 79814760 + Missense_Mutation SNP G T g.chr10:79814760G>T c.862G>T p.G288C TCGA-W5-AA39-01A-11D-A417-09 RPS28 19 8386428 8386428 + Missense_Mutation SNP G A g.chr19:8386428G>A c.14G>A p.R5H TCGA-W6-AA0S-01A-11D-A417-09 RPS3 11 75113481 75113481 + Missense_Mutation SNP C T g.chr11:75113481C>T c.341C>T p.A114V TCGA-ZH-A8Y1-01A-11D-A417-09 RPS6KA2 6 166826350 166826350 + Missense_Mutation SNP G T g.chr6:166826350G>T c.2102C>A p.A701D TCGA-3X-AAVC-01A-21D-A417-09 RPS6KA2 6 166918040 166918040 + Missense_Mutation SNP G T g.chr6:166918040G>T c.520C>A p.H174N TCGA-4G-AAZT-01A-11D-A417-09 RPS6KA3 23 20179855 20179855 + Silent SNP A G g.chrX:20179855A>G c.1866T>C p.P622P TCGA-W5-AA30-01A-31D-A417-09 RPS6KA3 23 20183169 20183169 + Missense_Mutation SNP T C g.chrX:20183169T>C c.1612A>G p.R538G TCGA-W5-AA39-01A-11D-A417-09 RPS6KC1 1 213415426 213415426 + Missense_Mutation SNP G T g.chr1:213415426G>T c.2607G>T p.K869N TCGA-W5-AA2I-01A-32D-A417-09 RPTN 1 152129066 152129066 + Missense_Mutation SNP T C g.chr1:152129066T>C c.509A>G p.H170R TCGA-W5-AA39-01A-11D-A417-09 RPTN 1 152129068 152129068 + Missense_Mutation SNP G T g.chr1:152129068G>T c.507C>A p.H169Q TCGA-W5-AA39-01A-11D-A417-09 RPTOR 17 78811735 78811735 + Missense_Mutation SNP C A g.chr17:78811735C>A c.1150C>A p.L384M TCGA-3X-AAVB-01A-31D-A417-09 RPTOR 17 78727809 78727809 + Splice_Site SNP G T g.chr17:78727809G>T TCGA-YR-A95A-01A-12D-A417-09 RPUSD4 11 126079517 126079517 + Silent SNP C T g.chr11:126079517C>T c.456G>A p.L152L TCGA-W5-AA2O-01A-11D-A417-09 RREB1 6 7187719 7187719 + Missense_Mutation SNP G T g.chr6:7187719G>T c.224G>T p.C75F TCGA-4G-AAZO-01A-12D-A417-09 RREB1 6 7189542 7189542 + Missense_Mutation SNP G T g.chr6:7189542G>T c.412G>T p.G138W TCGA-W5-AA2O-01A-11D-A417-09 RREB1 6 7249158 7249158 + Missense_Mutation SNP T G g.chr6:7249158T>G c.5021T>G p.L1674R TCGA-W5-AA39-01A-11D-A417-09 RSAD1 17 48560713 48560713 + Missense_Mutation SNP G T g.chr17:48560713G>T c.917G>T p.R306L TCGA-W5-AA2W-01A-11D-A417-09 RSC1A1 1 15987540 15987540 + Frame_Shift_Del DEL A - g.chr1:15987540delA c.1177delA p.K393fs TCGA-4G-AAZT-01A-11D-A417-09 RSPH10B 7 6006556 6006556 + Silent SNP A G g.chr7:6006556A>G c.192T>C p.V64V TCGA-ZH-A8Y2-01A-11D-A417-09 RSPRY1 16 57247850 57247850 + Missense_Mutation SNP C A g.chr16:57247850C>A c.694C>A p.Q232K TCGA-3X-AAVA-01A-11D-A417-09 RTBDN 19 12939521 12939521 + Silent SNP T C g.chr19:12939521T>C c.315A>G p.L105L TCGA-3X-AAVE-01A-11D-A417-09 RTF1 15 41749983 41749983 + Nonsense_Mutation SNP G T g.chr15:41749983G>T c.571G>T p.E191* TCGA-W5-AA2G-01A-11D-A417-09 RTN4IP1 6 107076815 107076815 + Missense_Mutation SNP G T g.chr6:107076815G>T c.82C>A p.P28T TCGA-W5-AA2G-01A-11D-A417-09 RTN4RL2 11 57243730 57243730 + Silent SNP C T g.chr11:57243730C>T c.609C>T p.G203G TCGA-ZU-A8S4-01A-11D-A417-09 RTP4 3 187088734 187088734 + Missense_Mutation SNP A T g.chr3:187088734A>T c.314A>T p.E105V TCGA-W5-AA39-01A-11D-A417-09 RTTN 18 67742716 67742716 + Missense_Mutation SNP G A g.chr18:67742716G>A c.4436C>T p.A1479V TCGA-ZU-A8S4-01A-11D-A417-09 RUFY1 5 179007944 179007948 + Splice_Site DEL AAAGG - g.chr5:179007944_179007948delAAAGG c.890_891delAAAGG p.E297fs TCGA-W5-AA30-01A-31D-A417-09 RUFY1 5 178977642 178977642 + Frame_Shift_Del DEL G - g.chr5:178977642delG c.72delG p.P24fs TCGA-ZH-A8Y4-01A-11D-A417-09 RUNDC2A 16 12093200 12093200 + Silent SNP G T g.chr16:12093200G>T c.54G>T p.L18L TCGA-3X-AAV9-01A-72D-A417-09 RUNDC2A 16 12136879 12136879 + Nonsense_Mutation SNP G T g.chr16:12136879G>T c.373G>T p.E125* TCGA-3X-AAVE-01A-11D-A417-09 RUNDC3A 17 42395541 42395541 + Missense_Mutation SNP T G g.chr17:42395541T>G c.1276T>G p.F426V TCGA-W5-AA39-01A-11D-A417-09 RUNDC3A 17 42392345 42392345 + Silent SNP C T g.chr17:42392345C>T c.597C>T p.I199I TCGA-YR-A95A-01A-12D-A417-09 RUNX2 6 45390463 45390463 + Silent SNP G A g.chr6:45390463G>A c.192G>A p.Q64Q TCGA-3X-AAV9-01A-72D-A417-09 RUNX2 6 45390463 45390463 + Silent SNP G A g.chr6:45390463G>A c.192G>A p.Q64Q TCGA-ZH-A8Y6-01A-11D-A417-09 RUNX3 1 25229099 25229099 + Silent SNP C T g.chr1:25229099C>T c.762G>A p.T254T TCGA-W5-AA2Q-01A-11D-A417-09 RUSC2 9 35546734 35546734 + Silent SNP T A g.chr9:35546734T>A c.216T>A p.S72S TCGA-3X-AAVA-01A-11D-A417-09 RUVBL2 19 49518928 49518928 + Missense_Mutation SNP C A g.chr19:49518928C>A c.1351C>A p.L451I TCGA-W5-AA2G-01A-11D-A417-09 RXFP1 4 159514595 159514595 + Missense_Mutation SNP C T g.chr4:159514595C>T c.230C>T p.A77V TCGA-YR-A95A-01A-12D-A417-09 RXRG 1 165414094 165414094 + Missense_Mutation SNP C T g.chr1:165414094C>T c.37G>A p.A13T TCGA-3X-AAVC-01A-21D-A417-09 RYR1 19 39006851 39006851 + Missense_Mutation SNP C T g.chr19:39006851C>T c.9679C>T p.R3227W TCGA-4G-AAZT-01A-11D-A417-09 RYR1 19 38995497 38995497 + Missense_Mutation SNP A G g.chr19:38995497A>G c.8177A>G p.K2726R TCGA-W5-AA2T-01A-12D-A417-09 RYR1 19 39062862 39062862 + Silent SNP G A g.chr19:39062862G>A c.13950G>A p.L4650L TCGA-W5-AA2U-01A-11D-A417-09 RYR1 19 39016093 39016093 + Missense_Mutation SNP C T g.chr19:39016093C>T c.10577C>T p.A3526V TCGA-ZU-A8S4-01A-11D-A417-09 RYR2 1 237777618 237777618 + Silent SNP G A g.chr1:237777618G>A c.5190G>A p.T1730T TCGA-W5-AA2G-01A-11D-A417-09 RYR2 1 237880647 237880647 + Silent SNP G T g.chr1:237880647G>T c.10473G>T p.L3491L TCGA-ZH-A8Y6-01A-11D-A417-09 RYR2 1 237732451 237732451 + Silent SNP C A g.chr1:237732451C>A c.3430C>A p.R1144R TCGA-ZU-A8S4-01A-11D-A417-09 RYR3 15 34018689 34018689 + Silent SNP C T g.chr15:34018689C>T c.7015C>T p.L2339L TCGA-3X-AAVA-01A-11D-A417-09 RYR3 15 33795931 33795931 + Missense_Mutation SNP G A g.chr15:33795931G>A c.271G>A p.G91S TCGA-W5-AA2G-01A-11D-A417-09 RYR3 15 33765642 33765642 + Missense_Mutation SNP G A g.chr15:33765642G>A c.74G>A p.C25Y TCGA-W5-AA2Z-01A-11D-A417-09 RYR3 15 33923462 33923462 + Missense_Mutation SNP G T g.chr15:33923462G>T c.2835G>T p.E945D TCGA-W5-AA30-01A-31D-A417-09 RYR3 15 34102761 34102761 + Missense_Mutation SNP G A g.chr15:34102761G>A c.10108G>A p.A3370T TCGA-ZH-A8Y4-01A-11D-A417-09 RYR3 15 33923424 33923424 + Missense_Mutation SNP C A g.chr15:33923424C>A c.2797C>A p.L933M TCGA-ZH-A8Y8-01A-51D-A417-09 S100A4 1 153516381 153516381 + Missense_Mutation SNP C T g.chr1:153516381C>T c.160G>A p.A54T TCGA-W5-AA2T-01A-12D-A417-09 S1PR5 19 10624541 10624541 + Missense_Mutation SNP C T g.chr19:10624541C>T c.1147G>A p.G383S TCGA-W5-AA2I-01A-32D-A417-09 SAAL1 11 18127573 18127573 + Missense_Mutation SNP A G g.chr11:18127573A>G c.16T>C p.S6P TCGA-W5-AA2Z-01A-11D-A417-09 SACS 13 23911856 23911856 + Missense_Mutation SNP C A g.chr13:23911856C>A c.6159G>T p.E2053D TCGA-3X-AAVC-01A-21D-A417-09 SAE1 19 47712448 47712450 + In_Frame_Del DEL CTT - g.chr19:47712448_47712450delCTT c.981_983delCTT p.F331del TCGA-W5-AA39-01A-11D-A417-09 SAGE1 23 134986716 134986716 + Missense_Mutation SNP C T g.chrX:134986716C>T c.301C>T p.P101S TCGA-ZD-A8I3-01A-11D-A417-09 SALL1 16 51173912 51173912 + Silent SNP G T g.chr16:51173912G>T c.2221C>A p.R741R TCGA-ZH-A8Y5-01A-11D-A417-09 SALL1 16 51173869 51173869 + Missense_Mutation SNP A C g.chr16:51173869A>C c.2264T>G p.V755G TCGA-ZU-A8S4-01A-11D-A417-09 SAMD4A 14 55169112 55169112 + Missense_Mutation SNP T C g.chr14:55169112T>C c.529T>C p.Y177H TCGA-W5-AA39-01A-11D-A417-09 SAMD9 7 92733180 92733180 + Missense_Mutation SNP G T g.chr7:92733180G>T c.2231C>A p.T744N TCGA-W5-AA2T-01A-12D-A417-09 SAMD9 7 92734778 92734778 + Silent SNP G T g.chr7:92734778G>T c.633C>A p.V211V TCGA-W6-AA0S-01A-11D-A417-09 SAP18 13 21714709 21714709 + 5'Flank SNP C T g.chr13:21714709C>T TCGA-W5-AA2O-01A-11D-A417-09 SAP30L 5 153835544 153835544 + Missense_Mutation SNP A T g.chr5:153835544A>T c.508A>T p.S170C TCGA-W5-AA39-01A-11D-A417-09 SARDH 9 136550380 136550380 + Missense_Mutation SNP C T g.chr9:136550380C>T c.2098G>A p.A700T TCGA-W5-AA2X-01A-11D-A417-09 SASH1 6 148792601 148792601 + Missense_Mutation SNP G T g.chr6:148792601G>T c.476G>T p.R159L TCGA-W5-AA31-01A-11D-A417-09 SASS6 1 100573425 100573425 + Missense_Mutation SNP C A g.chr1:100573425C>A c.997G>T p.D333Y TCGA-W5-AA2R-01A-11D-A417-09 SATB1 3 18391133 18391135 + In_Frame_Del DEL CTG - g.chr3:18391133_18391135delCTG c.1819_1821delCAG p.Q607del TCGA-3X-AAVC-01A-21D-A417-09 SATL1 23 84358922 84358922 + Splice_Site SNP C A g.chrX:84358922C>A TCGA-4G-AAZO-01A-12D-A417-09 SATL1 23 84362915 84362915 + Nonsense_Mutation SNP G A g.chrX:84362915G>A c.499C>T p.R167* TCGA-WD-A7RX-01A-12D-A417-09 SAV1 14 51107521 51107521 + Nonsense_Mutation SNP A C g.chr14:51107521A>C c.897T>G p.Y299* TCGA-ZU-A8S4-01A-11D-A417-09 SCAI 9 127762184 127762184 + Missense_Mutation SNP G T g.chr9:127762184G>T c.1230C>A p.H410Q TCGA-W5-AA2U-01A-11D-A417-09 SCAPER 15 77046217 77046217 + Missense_Mutation SNP G T g.chr15:77046217G>T c.1798C>A p.H600N TCGA-ZD-A8I3-01A-11D-A417-09 SCARA5 8 27764677 27764677 + Missense_Mutation SNP G A g.chr8:27764677G>A c.1084C>T p.R362C TCGA-W5-AA31-01A-11D-A417-09 SCCPDH 1 246929442 246929442 + Splice_Site SNP G A g.chr1:246929442G>A TCGA-W5-AA30-01A-31D-A417-09 SCFD1 14 31097418 31097418 + Missense_Mutation SNP C G g.chr14:31097418C>G c.65C>G p.A22G TCGA-W5-AA39-01A-11D-A417-09 SCG5 15 32988766 32988766 + Nonsense_Mutation SNP A T g.chr15:32988766A>T c.595A>T p.K199* TCGA-W5-AA2U-01A-11D-A417-09 SCGB1D2 11 62010926 62010926 + Missense_Mutation SNP G T g.chr11:62010926G>T c.221G>T p.R74L TCGA-4G-AAZO-01A-12D-A417-09 SCLY 2 238990770 238990770 + Missense_Mutation SNP G A g.chr2:238990770G>A c.697G>A p.D233N TCGA-W5-AA2U-01A-11D-A417-09 SCLY 2 238990809 238990809 + Missense_Mutation SNP G A g.chr2:238990809G>A c.736G>A p.E246K TCGA-W5-AA2U-01A-11D-A417-09 SCN2A 2 166231253 166231253 + Missense_Mutation SNP G T g.chr2:166231253G>T c.4031G>T p.C1344F TCGA-3X-AAVE-01A-11D-A417-09 SCN2A 2 166170618 166170618 + Splice_Site SNP G T g.chr2:166170618G>T c.1383G>T p.Q461H TCGA-4G-AAZO-01A-12D-A417-09 SCN2A 2 166231393 166231393 + Nonsense_Mutation SNP G T g.chr2:166231393G>T c.4171G>T p.E1391* TCGA-WD-A7RX-01A-12D-A417-09 SCN3B 11 123513240 123513240 + Missense_Mutation SNP C G g.chr11:123513240C>G c.359G>C p.C120S TCGA-W5-AA2Z-01A-11D-A417-09 SCN4A 17 62020345 62020345 + Nonsense_Mutation SNP G A g.chr17:62020345G>A c.4129C>T p.Q1377* TCGA-4G-AAZT-01A-11D-A417-09 SCN5A 3 38592470 38592470 + Nonsense_Mutation SNP C T g.chr3:38592470C>T c.5393G>A p.W1798* TCGA-ZH-A8Y1-01A-11D-A417-09 SCN7A 2 167269613 167269613 + Missense_Mutation SNP T C g.chr2:167269613T>C c.3433A>G p.I1145V TCGA-3X-AAV9-01A-72D-A417-09 SCN8A 12 52200419 52200419 + Missense_Mutation SNP C T g.chr12:52200419C>T c.5149C>T p.R1717C TCGA-ZU-A8S4-01A-11D-A417-09 SCNN1A 12 6471245 6471245 + Missense_Mutation SNP G T g.chr12:6471245G>T c.847C>A p.R283S TCGA-3X-AAV9-01A-72D-A417-09 SCP2 1 53453786 53453786 + Missense_Mutation SNP G T g.chr1:53453786G>T c.816G>T p.K272N TCGA-4G-AAZO-01A-12D-A417-09 SCRIB 8 144887183 144887183 + Splice_Site SNP C T g.chr8:144887183C>T c.2672G>A p.G891D TCGA-3X-AAV9-01A-72D-A417-09 SCRN2 17 45918185 45918185 + Missense_Mutation SNP G T g.chr17:45918185G>T c.25C>A p.P9T TCGA-4G-AAZO-01A-12D-A417-09 SCUBE2 11 9101052 9101052 + Silent SNP G A g.chr11:9101052G>A c.261C>T p.I87I TCGA-W5-AA2T-01A-12D-A417-09 SCUBE2 11 9047293 9047293 + Missense_Mutation SNP C T g.chr11:9047293C>T c.2723G>A p.G908E TCGA-W5-AA39-01A-11D-A417-09 SCYL1 11 65303776 65303776 + Missense_Mutation SNP C T g.chr11:65303776C>T c.1622C>T p.S541L TCGA-W5-AA2H-01A-31D-A417-09 SDHA 5 251468 251468 + Missense_Mutation SNP C G g.chr5:251468C>G c.1679C>G p.T560R TCGA-W5-AA2H-01A-31D-A417-09 SDHAF2 11 61205106 61205106 + Missense_Mutation SNP C A g.chr11:61205106C>A c.46C>A p.L16M TCGA-ZH-A8Y8-01A-51D-A417-09 SDK1 7 4218209 4218209 + Missense_Mutation SNP G T g.chr7:4218209G>T c.5089G>T p.G1697C TCGA-W5-AA2Z-01A-11D-A417-09 SDK1 7 3678685 3678685 + Missense_Mutation SNP G A g.chr7:3678685G>A c.508G>A p.V170M TCGA-W5-AA30-01A-31D-A417-09 SDK2 17 71334731 71334731 + Missense_Mutation SNP C A g.chr17:71334731C>A c.6514G>T p.V2172F TCGA-4G-AAZO-01A-12D-A417-09 SDK2 17 71394551 71394551 + Missense_Mutation SNP C A g.chr17:71394551C>A c.3111G>T p.E1037D TCGA-4G-AAZO-01A-12D-A417-09 SDR16C5 8 57228891 57228892 + Nonsense_Mutation DNP GC AA g.chr8:57228891_57228892GC>AA c.15_16GC>TT p.Q6* TCGA-W5-AA39-01A-11D-A417-09 SEC14L1 17 75210105 75210105 + Silent SNP G A g.chr17:75210105G>A c.2148G>A p.*716* TCGA-3X-AAVA-01A-11D-A417-09 SEC14L4 22 30888052 30888052 + Missense_Mutation SNP G A g.chr22:30888052G>A c.755C>T p.P252L TCGA-3X-AAVE-01A-11D-A417-09 SEC14L5 16 5046986 5046986 + Missense_Mutation SNP G T g.chr16:5046986G>T c.911G>T p.W304L TCGA-W5-AA2R-01A-11D-A417-09 SEC16A 9 139341749 139341749 + Silent SNP G T g.chr9:139341749G>T c.6093C>A p.L2031L TCGA-4G-AAZO-01A-12D-A417-09 SEC16B 1 177917032 177917032 + Missense_Mutation SNP C T g.chr1:177917032C>T c.1591G>A p.V531M TCGA-W5-AA2T-01A-12D-A417-09 SEC24B 4 110453888 110453888 + Missense_Mutation SNP G T g.chr4:110453888G>T c.3484G>T p.D1162Y TCGA-W5-AA2O-01A-11D-A417-09 SEC63 6 108214765 108214765 + Nonsense_Mutation SNP A T g.chr6:108214765A>T c.1595T>A p.L532* TCGA-ZU-A8S4-01A-11D-A417-09 SECISBP2 9 91943787 91943787 + Missense_Mutation SNP G T g.chr9:91943787G>T c.787G>T p.A263S TCGA-ZH-A8Y2-01A-11D-A417-09 SECISBP2L 15 49304061 49304061 + Splice_Site SNP C A g.chr15:49304061C>A TCGA-W5-AA2H-01A-31D-A417-09 SEL1L 14 81946075 81946075 + Missense_Mutation SNP G T g.chr14:81946075G>T c.2056C>A p.L686I TCGA-4G-AAZO-01A-12D-A417-09 SELENBP1 1 151339353 151339353 + Missense_Mutation SNP G A g.chr1:151339353G>A c.509C>T p.T170M TCGA-ZU-A8S4-01A-11D-A417-09 SELL 1 169670703 169670703 + Missense_Mutation SNP T C g.chr1:169670703T>C c.1118A>G p.K373R TCGA-W5-AA2Z-01A-11D-A417-09 SELL 1 169670779 169670779 + Missense_Mutation SNP A G g.chr1:169670779A>G c.1042T>C p.F348L TCGA-W5-AA2Z-01A-11D-A417-09 SELP 1 169564103 169564103 + Nonsense_Mutation SNP G T g.chr1:169564103G>T c.2114C>A p.S705* TCGA-3X-AAVB-01A-31D-A417-09 SELPLG 12 109017495 109017495 + Missense_Mutation SNP C T g.chr12:109017495C>T c.589G>A p.A197T TCGA-W5-AA2G-01A-11D-A417-09 SELT 3 150340940 150340940 + Nonsense_Mutation SNP G A g.chr3:150340940G>A c.185G>A p.W62* TCGA-W5-AA39-01A-11D-A417-09 SEMA3D 7 84651769 84651769 + Missense_Mutation SNP T C g.chr7:84651769T>C c.1352A>G p.Q451R TCGA-W5-AA39-01A-11D-A417-09 SEMA3D 7 84727276 84727276 + Missense_Mutation SNP G T g.chr7:84727276G>T c.157C>A p.L53M TCGA-YR-A95A-01A-12D-A417-09 SEMA4C 2 97530504 97530504 + Missense_Mutation SNP C T g.chr2:97530504C>T c.900G>A p.M300I TCGA-W5-AA2Q-01A-11D-A417-09 SEMA4F 2 74900824 74900824 + Missense_Mutation SNP G A g.chr2:74900824G>A c.691G>A p.V231M TCGA-W5-AA2X-01A-11D-A417-09 SEMA4G 10 102743836 102743836 + Frame_Shift_Del DEL A - g.chr10:102743836delA c.2465delA p.E822fs TCGA-W5-AA2Q-01A-11D-A417-09 SEMA5A 5 9202072 9202072 + Silent SNP G T g.chr5:9202072G>T c.927C>A p.T309T TCGA-W5-AA34-01A-11D-A417-09 SEMA5A 5 9063091 9063091 + Missense_Mutation SNP C T g.chr5:9063091C>T c.2426G>A p.R809H TCGA-ZH-A8Y8-01A-51D-A417-09 SEMA5B 3 122631064 122631064 + Missense_Mutation SNP C T g.chr3:122631064C>T c.2851G>A p.G951R TCGA-W5-AA2X-01A-11D-A417-09 SEMA6A 5 115831161 115831161 + Missense_Mutation SNP G T g.chr5:115831161G>T c.392C>A p.A131E TCGA-4G-AAZO-01A-12D-A417-09 SEMA6A 5 115782915 115782915 + Silent SNP G A g.chr5:115782915G>A c.2487C>T p.Y829Y TCGA-W5-AA33-01A-11D-A417-09 SEMA6C 1 151109372 151109372 + Missense_Mutation SNP C T g.chr1:151109372C>T c.935G>A p.R312H TCGA-W5-AA2O-01A-11D-A417-09 SEMA6D 15 48063949 48063949 + Silent SNP A G g.chr15:48063949A>G c.3189A>G p.P1063P TCGA-3X-AAVA-01A-11D-A417-09 SEMA6D 15 48052508 48052508 + Silent SNP G A g.chr15:48052508G>A c.117G>A p.R39R TCGA-W5-AA2H-01A-31D-A417-09 SEMA6D 15 48056069 48056069 + Missense_Mutation SNP G A g.chr15:48056069G>A c.770G>A p.R257H TCGA-W6-AA0S-01A-11D-A417-09 SEMA6D 15 48055275 48055275 + Missense_Mutation SNP G A g.chr15:48055275G>A c.721G>A p.A241T TCGA-WD-A7RX-01A-12D-A417-09 SENP2 3 185329428 185329449 + Splice_Site DEL GTGTTTCTAAGTTCTCAAAGAA - g.chr3:185329428_185329449delGTGTTTCTAAGTTCTCAAAGAA c.722_733delGTGTTTCTAAGTTCTCAAAGAA p.SVSKF241fs TCGA-W5-AA39-01A-11D-A417-09 SENP3 17 7466484 7466484 + Missense_Mutation SNP C T g.chr17:7466484C>T c.91C>T p.R31C TCGA-ZD-A8I3-01A-11D-A417-09 SENP5 3 196626893 196626893 + Missense_Mutation SNP A C g.chr3:196626893A>C c.1718A>C p.D573A TCGA-W5-AA39-01A-11D-A417-09 SENP7 3 101049208 101049208 + Silent SNP C A g.chr3:101049208C>A c.2721G>T p.S907S TCGA-W5-AA31-01A-11D-A417-09 SEPSECS 4 25157778 25157778 + Missense_Mutation SNP G A g.chr4:25157778G>A c.428C>T p.A143V TCGA-W5-AA2X-01A-11D-A417-09 SEPT1 16 30392754 30392754 + Missense_Mutation SNP G T g.chr16:30392754G>T c.346C>A p.Q116K TCGA-4G-AAZO-01A-12D-A417-09 SEPT11 4 77949912 77949912 + Nonsense_Mutation SNP G T g.chr4:77949912G>T c.1084G>T p.E362* TCGA-W5-AA2R-01A-11D-A417-09 SERAC1 6 158569934 158569934 + Missense_Mutation SNP C A g.chr6:158569934C>A c.318G>T p.L106F TCGA-4G-AAZO-01A-12D-A417-09 SERINC2 1 31905889 31905889 + Silent SNP A G g.chr1:31905889A>G c.1089A>G p.T363T TCGA-W5-AA2Q-01A-11D-A417-09 SERPINB13 18 61260205 61260205 + Splice_Site SNP G T g.chr18:61260205G>T c.472G>T p.E158* TCGA-W5-AA38-01A-11D-A417-09 SERPINE2 2 224856592 224856592 + Missense_Mutation SNP G A g.chr2:224856592G>A c.613C>T p.R205C TCGA-ZH-A8Y4-01A-11D-A417-09 SERTAD1 19 40929001 40929001 + Silent SNP G A g.chr19:40929001G>A c.453C>T p.S151S TCGA-W5-AA30-01A-31D-A417-09 SESTD1 2 180016103 180016103 + Missense_Mutation SNP C T g.chr2:180016103C>T c.385G>A p.A129T TCGA-ZH-A8Y5-01A-11D-A417-09 SETD2 3 47125234 47125235 + Frame_Shift_Ins INS - A g.chr3:47125234_47125235insA c.6035_6036insT p.L2012fs TCGA-ZH-A8Y4-01A-11D-A417-09 SETD2 3 47129614 47129614 + Missense_Mutation SNP C T g.chr3:47129614C>T c.5266G>A p.E1756K TCGA-ZH-A8Y5-01A-11D-A417-09 SETD7 4 140454482 140454482 + Missense_Mutation SNP C T g.chr4:140454482C>T c.209G>A p.G70D TCGA-ZH-A8Y2-01A-11D-A417-09 SETD8 12 123879692 123879692 + Missense_Mutation SNP C A g.chr12:123879692C>A c.388C>A p.Q130K TCGA-W5-AA2G-01A-11D-A417-09 SETX 9 135202917 135202917 + Silent SNP G T g.chr9:135202917G>T c.4068C>A p.P1356P TCGA-4G-AAZO-01A-12D-A417-09 SETX 9 135204542 135204542 + Missense_Mutation SNP A C g.chr9:135204542A>C c.2443T>G p.L815V TCGA-W5-AA39-01A-11D-A417-09 SF3A2 19 2248134 2248134 + Silent SNP G A g.chr19:2248134G>A c.984G>A p.G328G TCGA-4G-AAZT-01A-11D-A417-09 SF3A2 19 2248143 2248143 + Silent SNP C T g.chr19:2248143C>T c.993C>T p.P331P TCGA-4G-AAZT-01A-11D-A417-09 SF3A2 19 2248149 2248149 + Silent SNP T C g.chr19:2248149T>C c.999T>C p.A333A TCGA-4G-AAZT-01A-11D-A417-09 SF3A3 1 38444662 38444662 + Silent SNP G C g.chr1:38444662G>C c.825C>G p.G275G TCGA-W5-AA39-01A-11D-A417-09 SF3B1 2 198269868 198269868 + Nonsense_Mutation SNP C A g.chr2:198269868C>A c.1471G>T p.E491* TCGA-4G-AAZO-01A-12D-A417-09 SF3B1 2 198266713 198266713 + Missense_Mutation SNP C T g.chr2:198266713C>T c.2219G>A p.G740E TCGA-W5-AA2U-01A-11D-A417-09 SF3B1 2 198288622 198288622 + Silent SNP A C g.chr2:198288622A>C c.105T>G p.S35S TCGA-W5-AA39-01A-11D-A417-09 SF3B1 2 198273209 198273209 + Missense_Mutation SNP C A g.chr2:198273209C>A c.1001G>T p.R334I TCGA-W6-AA0S-01A-11D-A417-09 SF3B2 11 65820161 65820161 + Missense_Mutation SNP G A g.chr11:65820161G>A c.151G>A p.V51M TCGA-W5-AA39-01A-11D-A417-09 SFMBT2 10 7212892 7212892 + Missense_Mutation SNP G T g.chr10:7212892G>T c.2542C>A p.Q848K TCGA-ZH-A8Y4-01A-11D-A417-09 SFRS1 17 56082914 56082914 + Silent SNP T G g.chr17:56082914T>G c.600A>C p.P200P TCGA-W5-AA39-01A-11D-A417-09 SFRS12IP1 5 64020374 64020374 + Missense_Mutation SNP T A g.chr5:64020374T>A c.305A>T p.E102V TCGA-W5-AA39-01A-11D-A417-09 SFRS6 20 42088724 42088724 + Nonsense_Mutation SNP C T g.chr20:42088724C>T c.433C>T p.R145* TCGA-3X-AAV9-01A-72D-A417-09 SFXN1 5 174949392 174949392 + Missense_Mutation SNP C T g.chr5:174949392C>T c.839C>T p.T280I TCGA-W5-AA2Q-01A-11D-A417-09 SGCD 5 155935643 155935643 + Silent SNP A G g.chr5:155935643A>G c.222A>G p.K74K TCGA-W5-AA34-01A-11D-A417-09 SGK1 6 134492266 134492266 + Missense_Mutation SNP G T g.chr6:134492266G>T c.933C>A p.N311K TCGA-3X-AAVB-01A-31D-A417-09 SGK2 20 42213625 42213625 + Missense_Mutation SNP C T g.chr20:42213625C>T c.1253C>T p.A418V TCGA-ZH-A8Y2-01A-11D-A417-09 SGK269 15 77450866 77450885 + Frame_Shift_Del DEL TACAAGGGTTCGGGTCCATA - g.chr15:77450866_77450885delTACAAGGGTTCGGGTCCATA c.3291_3310delTATGGACCCGAACCCTTGTA p.MDPNPCS1098fs TCGA-W5-AA39-01A-11D-A417-09 SGOL2 2 201407335 201407335 + Nonsense_Mutation SNP A T g.chr2:201407335A>T c.421A>T p.K141* TCGA-W5-AA2O-01A-11D-A417-09 SH2B2 7 101960825 101960825 + Missense_Mutation SNP G T g.chr7:101960825G>T c.1540G>T p.G514C TCGA-YR-A95A-01A-12D-A417-09 SH2D3A 19 6755188 6755188 + Missense_Mutation SNP T C g.chr19:6755188T>C c.635A>G p.K212R TCGA-W5-AA2U-01A-11D-A417-09 SH3BP1 22 38049853 38049853 + Missense_Mutation SNP G A g.chr22:38049853G>A c.1666G>A p.A556T TCGA-ZH-A8Y4-01A-11D-A417-09 SH3BP5L 1 249119038 249119038 + Missense_Mutation SNP C T g.chr1:249119038C>T c.97G>A p.A33T TCGA-W5-AA2G-01A-11D-A417-09 SH3GL1 19 4362634 4362634 + Silent SNP G C g.chr19:4362634G>C c.828C>G p.P276P TCGA-3X-AAVC-01A-21D-A417-09 SH3GLB1 1 87200770 87200770 + Missense_Mutation SNP C G g.chr1:87200770C>G c.669C>G p.H223Q TCGA-ZH-A8Y2-01A-11D-A417-09 SH3KBP1 23 19725065 19725065 + Missense_Mutation SNP G T g.chrX:19725065G>T c.324C>A p.S108R TCGA-W5-AA2Q-01A-11D-A417-09 SH3PXD2A 10 105526913 105526913 + Missense_Mutation SNP A T g.chr10:105526913A>T c.168T>A p.D56E TCGA-W5-AA31-01A-11D-A417-09 SHANK1 19 51165465 51165465 + Silent SNP C T g.chr19:51165465C>T c.6243G>A p.L2081L TCGA-W5-AA2Z-01A-11D-A417-09 SHANK2 11 70332552 70332552 + Silent SNP G A g.chr11:70332552G>A c.2709C>T p.Y903Y TCGA-W5-AA34-01A-11D-A417-09 SHANK2 11 70332549 70332549 + Silent SNP C T g.chr11:70332549C>T c.2712G>A p.E904E TCGA-W5-AA39-01A-11D-A417-09 SHC4 15 49255141 49255141 + Missense_Mutation SNP C T g.chr15:49255141C>T c.72G>A p.M24I TCGA-ZH-A8Y8-01A-51D-A417-09 SHC4 15 49254750 49254750 + Missense_Mutation SNP C T g.chr15:49254750C>T c.463G>A p.A155T TCGA-ZU-A8S4-01A-11D-A417-09 SHKBP1 19 41086736 41086736 + Silent SNP G T g.chr19:41086736G>T c.738G>T p.R246R TCGA-4G-AAZT-01A-11D-A417-09 SHKBP1 19 41088331 41088331 + Missense_Mutation SNP G A g.chr19:41088331G>A c.919G>A p.G307R TCGA-ZD-A8I3-01A-11D-A417-09 SHPRH 6 146268687 146268687 + Missense_Mutation SNP G T g.chr6:146268687G>T c.1154C>A p.A385D TCGA-3X-AAV9-01A-72D-A417-09 SHPRH 6 146256253 146256253 + Missense_Mutation SNP G T g.chr6:146256253G>T c.2780C>A p.S927Y TCGA-W5-AA2T-01A-12D-A417-09 SHROOM3 4 77700128 77700128 + Missense_Mutation SNP C T g.chr4:77700128C>T c.5789C>T p.T1930M TCGA-W5-AA31-01A-11D-A417-09 SHROOM4 23 50350731 50350731 + Silent SNP C T g.chrX:50350731C>T c.3411G>A p.E1137E TCGA-W5-AA2R-01A-11D-A417-09 SHROOM4 23 50350734 50350734 + Silent SNP C T g.chrX:50350734C>T c.3408G>A p.E1136E TCGA-W5-AA2R-01A-11D-A417-09 SI 3 164785167 164785167 + Missense_Mutation SNP A G g.chr3:164785167A>G c.596T>C p.F199S TCGA-3X-AAVC-01A-21D-A417-09 SIDT1 3 113321990 113321990 + Missense_Mutation SNP G T g.chr3:113321990G>T c.1256G>T p.R419L TCGA-ZH-A8Y2-01A-11D-A417-09 SIGLEC1 20 3687244 3687244 + Silent SNP G A g.chr20:3687244G>A c.159C>T p.D53D TCGA-YR-A95A-01A-12D-A417-09 SIGLEC10 19 51918278 51918278 + Missense_Mutation SNP G C g.chr19:51918278G>C c.1415C>G p.P472R TCGA-W5-AA2Q-01A-11D-A417-09 SIGLEC10 19 51918507 51918507 + Missense_Mutation SNP C T g.chr19:51918507C>T c.1258G>A p.E420K TCGA-ZH-A8Y1-01A-11D-A417-09 SIGLEC9 19 51628378 51628378 + Silent SNP C A g.chr19:51628378C>A c.147C>A p.G49G TCGA-4G-AAZO-01A-12D-A417-09 SIK1 21 44845977 44845977 + Missense_Mutation SNP C G g.chr21:44845977C>G c.82G>C p.D28H TCGA-W5-AA39-01A-11D-A417-09 SIK2 11 111572283 111572283 + Silent SNP G A g.chr11:111572283G>A c.711G>A p.P237P TCGA-3X-AAVE-01A-11D-A417-09 SIM2 21 38114120 38114120 + Missense_Mutation SNP G A g.chr21:38114120G>A c.953G>A p.R318H TCGA-ZH-A8Y4-01A-11D-A417-09 SIPA1 11 65416935 65416935 + Missense_Mutation SNP T G g.chr11:65416935T>G c.2509T>G p.S837A TCGA-W5-AA39-01A-11D-A417-09 SIPA1L3 19 38579446 38579446 + Silent SNP G A g.chr19:38579446G>A c.1620G>A p.E540E TCGA-3X-AAVA-01A-11D-A417-09 SIPA1L3 19 38689097 38689097 + Missense_Mutation SNP G T g.chr19:38689097G>T c.4909G>T p.G1637W TCGA-W5-AA39-01A-11D-A417-09 SIRPA 20 1903045 1903045 + Missense_Mutation SNP C A g.chr20:1903045C>A c.841C>A p.Q281K TCGA-4G-AAZO-01A-12D-A417-09 SIRPD 20 1532455 1532455 + Silent SNP G T g.chr20:1532455G>T c.303C>A p.S101S TCGA-W5-AA2Z-01A-11D-A417-09 SIRPD 20 1532442 1532442 + Missense_Mutation SNP C G g.chr20:1532442C>G c.316G>C p.E106Q TCGA-ZH-A8Y6-01A-11D-A417-09 SIT1 9 35650620 35650620 + Missense_Mutation SNP T C g.chr9:35650620T>C c.115A>G p.T39A TCGA-WD-A7RX-01A-12D-A417-09 SIX1 14 61115903 61115903 + Missense_Mutation SNP G A g.chr14:61115903G>A c.5C>T p.S2L TCGA-W5-AA2W-01A-11D-A417-09 SKA2 17 57232319 57232319 + Intron SNP G T g.chr17:57232319G>T TCGA-ZH-A8Y6-01A-11D-A417-09 SKA3 13 21742376 21742376 + Missense_Mutation SNP C T g.chr13:21742376C>T c.494G>A p.R165Q TCGA-3X-AAVC-01A-21D-A417-09 SKAP1 17 46262165 46262165 + Missense_Mutation SNP G A g.chr17:46262165G>A c.487C>T p.R163W TCGA-3X-AAVA-01A-11D-A417-09 SKIV2L 6 31935499 31935499 + Nonsense_Mutation SNP C A g.chr6:31935499C>A c.2591C>A p.S864* TCGA-4G-AAZO-01A-12D-A417-09 SKP2 5 36181926 36181926 + Silent SNP T G g.chr5:36181926T>G c.1068T>G p.L356L TCGA-W5-AA39-01A-11D-A417-09 SLA 8 134062164 134062164 + Silent SNP C T g.chr8:134062164C>T c.231G>A p.V77V TCGA-W5-AA2G-01A-11D-A417-09 SLAIN2 4 48385777 48385777 + Missense_Mutation SNP C A g.chr4:48385777C>A c.1336C>A p.R446S TCGA-W5-AA2G-01A-11D-A417-09 SLAMF6 1 160458958 160458958 + Nonsense_Mutation SNP C A g.chr1:160458958C>A c.799G>T p.E267* TCGA-ZH-A8Y8-01A-51D-A417-09 SLAMF8 1 159799757 159799757 + Missense_Mutation SNP G T g.chr1:159799757G>T c.142G>T p.A48S TCGA-WD-A7RX-01A-12D-A417-09 SLC10A7 4 147363937 147363937 + Missense_Mutation SNP A C g.chr4:147363937A>C c.433T>G p.L145V TCGA-W5-AA39-01A-11D-A417-09 SLC12A1 15 48580290 48580290 + Nonsense_Mutation SNP A T g.chr15:48580290A>T c.2680A>T p.K894* TCGA-W5-AA39-01A-11D-A417-09 SLC12A2 5 127483404 127483404 + Missense_Mutation SNP G A g.chr5:127483404G>A c.1864G>A p.A622T TCGA-3X-AAVC-01A-21D-A417-09 SLC12A2 5 127522246 127522246 + Nonsense_Mutation SNP G T g.chr5:127522246G>T c.3562G>T p.E1188* TCGA-ZU-A8S4-01A-11D-A417-09 SLC12A6 15 34628712 34628712 + Missense_Mutation SNP C T g.chr15:34628712C>T c.170G>A p.S57N TCGA-W5-AA2U-01A-11D-A417-09 SLC12A7 5 1077985 1077985 + Missense_Mutation SNP T C g.chr5:1077985T>C c.1592A>G p.Q531R TCGA-4G-AAZO-01A-12D-A417-09 SLC12A7 5 1093708 1093730 + Frame_Shift_Del DEL GTTGGTGTAGTTGGCCAGCTTGT - g.chr5:1093708_1093730delGTTGGTGTAGTTGGCCAGCTTGT c.260_282delACAAGCTGGCCAACTACACCAAC p.NKLANYTN87fs TCGA-W5-AA39-01A-11D-A417-09 SLC12A8 3 124826699 124826699 + Missense_Mutation SNP T A g.chr3:124826699T>A c.1331A>T p.E444V TCGA-W5-AA39-01A-11D-A417-09 SLC13A3 20 45192078 45192078 + Missense_Mutation SNP G T g.chr20:45192078G>T c.1607C>A p.S536Y TCGA-3X-AAV9-01A-72D-A417-09 SLC13A5 17 6599187 6599187 + Missense_Mutation SNP C T g.chr17:6599187C>T c.913G>A p.E305K TCGA-W5-AA2X-01A-11D-A417-09 SLC16A10 6 111498823 111498823 + Silent SNP A C g.chr6:111498823A>C c.897A>C p.G299G TCGA-W5-AA39-01A-11D-A417-09 SLC16A11 17 6946310 6946310 + Missense_Mutation SNP G T g.chr17:6946310G>T c.357C>A p.F119L TCGA-W5-AA2I-01A-32D-A417-09 SLC16A14 2 230914527 230914527 + Missense_Mutation SNP G A g.chr2:230914527G>A c.353C>T p.A118V TCGA-ZH-A8Y6-01A-11D-A417-09 SLC17A3 6 25850686 25850686 + Splice_Site SNP C T g.chr6:25850686C>T TCGA-W5-AA39-01A-11D-A417-09 SLC17A6 11 22381017 22381017 + Missense_Mutation SNP G A g.chr11:22381017G>A c.517G>A p.A173T TCGA-W5-AA34-01A-11D-A417-09 SLC17A8 12 100774620 100774620 + Missense_Mutation SNP G T g.chr12:100774620G>T c.243G>T p.M81I TCGA-W5-AA2U-01A-11D-A417-09 SLC17A8 12 100811849 100811849 + Missense_Mutation SNP G A g.chr12:100811849G>A c.1340G>A p.S447N TCGA-ZD-A8I3-01A-11D-A417-09 SLC17A9 20 61594022 61594022 + Missense_Mutation SNP G T g.chr20:61594022G>T c.544G>T p.G182C TCGA-W5-AA30-01A-31D-A417-09 SLC18A2 10 119003781 119003781 + Missense_Mutation SNP G T g.chr10:119003781G>T c.421G>T p.V141F TCGA-W5-AA2U-01A-11D-A417-09 SLC19A3 2 228564115 228564115 + Missense_Mutation SNP T C g.chr2:228564115T>C c.316A>G p.M106V TCGA-3X-AAV9-01A-72D-A417-09 SLC19A3 2 228564115 228564115 + Missense_Mutation SNP T C g.chr2:228564115T>C c.316A>G p.M106V TCGA-ZU-A8S4-01A-11D-A417-09 SLC1A6 19 15063766 15063766 + Silent SNP C T g.chr19:15063766C>T c.1473G>A p.T491T TCGA-W5-AA2G-01A-11D-A417-09 SLC20A2 8 42287686 42287686 + Nonsense_Mutation SNP C T g.chr8:42287686C>T c.1605G>A p.W535* TCGA-ZH-A8Y1-01A-11D-A417-09 SLC22A10 11 63066993 63066993 + Missense_Mutation SNP G T g.chr11:63066993G>T c.962G>T p.R321I TCGA-4G-AAZO-01A-12D-A417-09 SLC22A10 11 63057875 63057875 + Missense_Mutation SNP G T g.chr11:63057875G>T c.238G>T p.D80Y TCGA-ZU-A8S4-01A-11D-A417-09 SLC22A12 11 64367324 64367324 + Missense_Mutation SNP C T g.chr11:64367324C>T c.1247C>T p.A416V TCGA-W5-AA2H-01A-31D-A417-09 SLC22A4 5 131630429 131630429 + Silent SNP G T g.chr5:131630429G>T c.120G>T p.V40V TCGA-4G-AAZT-01A-11D-A417-09 SLC22A5 5 131729481 131729481 + Missense_Mutation SNP G A g.chr5:131729481G>A c.1564G>A p.D522N TCGA-3X-AAVB-01A-31D-A417-09 SLC22A9 11 63149670 63149670 + Missense_Mutation SNP C A g.chr11:63149670C>A c.994C>A p.Q332K TCGA-ZH-A8Y2-01A-11D-A417-09 SLC23A2 20 4839936 4839936 + Splice_Site SNP T G g.chr20:4839936T>G c.1719A>C p.P573P TCGA-W5-AA39-01A-11D-A417-09 SLC23A3 2 220029918 220029918 + Silent SNP G T g.chr2:220029918G>T c.1140C>A p.P380P TCGA-W5-AA2Q-01A-11D-A417-09 SLC23A3 2 220034386 220034386 + Missense_Mutation SNP C A g.chr2:220034386C>A c.177G>T p.M59I TCGA-W5-AA2Z-01A-11D-A417-09 SLC24A2 9 19786216 19786216 + Missense_Mutation SNP G T g.chr9:19786216G>T c.649C>A p.L217I TCGA-W5-AA2I-01A-32D-A417-09 SLC25A12 2 172641829 172641829 + Missense_Mutation SNP A T g.chr2:172641829A>T c.1992T>A p.S664R TCGA-3X-AAVA-01A-11D-A417-09 SLC25A16 10 70243272 70243272 + Missense_Mutation SNP G A g.chr10:70243272G>A c.916C>T p.L306F TCGA-W5-AA39-01A-11D-A417-09 SLC25A17 22 41173096 41173096 + Missense_Mutation SNP G A g.chr22:41173096G>A c.641C>T p.A214V TCGA-3X-AAVB-01A-31D-A417-09 SLC25A2 5 140683227 140683227 + Missense_Mutation SNP G C g.chr5:140683227G>C c.206C>G p.P69R TCGA-4G-AAZO-01A-12D-A417-09 SLC25A26 3 66293723 66293723 + Missense_Mutation SNP C A g.chr3:66293723C>A c.23C>A p.S8Y TCGA-W5-AA34-01A-11D-A417-09 SLC25A26 3 66312519 66312519 + Missense_Mutation SNP G T g.chr3:66312519G>T c.81G>T p.R27S TCGA-ZH-A8Y6-01A-11D-A417-09 SLC25A27 6 46630146 46630146 + Silent SNP T G g.chr6:46630146T>G c.417T>G p.V139V TCGA-W5-AA39-01A-11D-A417-09 SLC25A32 8 104413805 104413805 + Missense_Mutation SNP G T g.chr8:104413805G>T c.751C>A p.R251S TCGA-W5-AA2U-01A-11D-A417-09 SLC25A33 1 9640237 9640238 + Frame_Shift_Ins INS - A g.chr1:9640237_9640238insA c.708_709insA p.M237fs TCGA-ZH-A8Y4-01A-11D-A417-09 SLC25A46 5 110096916 110096916 + Silent SNP C A g.chr5:110096916C>A c.691C>A p.R231R TCGA-WD-A7RX-01A-12D-A417-09 SLC25A6 23 1506182 1506182 + Silent SNP C A g.chrX:1506182C>A c.729G>T p.G243G TCGA-WD-A7RX-01A-12D-A417-09 SLC26A7 8 92346590 92346590 + Missense_Mutation SNP G A g.chr8:92346590G>A c.710G>A p.S237N TCGA-4G-AAZT-01A-11D-A417-09 SLC27A5 19 59009967 59009967 + Missense_Mutation SNP A T g.chr19:59009967A>T c.1988T>A p.F663Y TCGA-W5-AA39-01A-11D-A417-09 SLC28A1 15 85438311 85438311 + Missense_Mutation SNP C G g.chr15:85438311C>G c.418C>G p.L140V TCGA-W6-AA0S-01A-11D-A417-09 SLC2A10 20 45358084 45358084 + Missense_Mutation SNP G T g.chr20:45358084G>T c.1504G>T p.G502C TCGA-3X-AAV9-01A-72D-A417-09 SLC2A12 6 134350693 134350693 + Silent SNP G T g.chr6:134350693G>T c.270C>A p.A90A TCGA-W5-AA2H-01A-31D-A417-09 SLC2A2 3 170715825 170715825 + Missense_Mutation SNP A C g.chr3:170715825A>C c.1442T>G p.F481C TCGA-W5-AA39-01A-11D-A417-09 SLC30A1 1 211749440 211749445 + In_Frame_Del DEL AAAAGT - g.chr1:211749440_211749445delAAAAGT c.809_814delACTTTT p.YF270del TCGA-ZH-A8Y4-01A-11D-A417-09 SLC30A5 5 68423847 68423847 + Missense_Mutation SNP G T g.chr5:68423847G>T c.2015G>T p.G672V TCGA-YR-A95A-01A-12D-A417-09 SLC32A1 20 37353459 37353459 + Missense_Mutation SNP T A g.chr20:37353459T>A c.92T>A p.M31K TCGA-W5-AA33-01A-11D-A417-09 SLC35F1 6 118598679 118598679 + Silent SNP C T g.chr6:118598679C>T c.817C>T p.L273L TCGA-W5-AA2Q-01A-11D-A417-09 SLC35F2 11 107686612 107686612 + Missense_Mutation SNP C T g.chr11:107686612C>T c.190G>A p.A64T TCGA-YR-A95A-01A-12D-A417-09 SLC35F5 2 114500277 114500277 + Missense_Mutation SNP A C g.chr2:114500277A>C c.742T>G p.C248G TCGA-W5-AA2G-01A-11D-A417-09 SLC36A1 5 150853233 150853233 + Splice_Site SNP G T g.chr5:150853233G>T TCGA-3X-AAVE-01A-11D-A417-09 SLC37A1 21 43959624 43959624 + Missense_Mutation SNP G T g.chr21:43959624G>T c.353G>T p.G118V TCGA-W5-AA34-01A-11D-A417-09 SLC37A3 7 140043303 140043303 + Missense_Mutation SNP C T g.chr7:140043303C>T c.1235G>A p.R412H TCGA-W5-AA2Z-01A-11D-A417-09 SLC38A1 12 46633559 46633559 + Missense_Mutation SNP C T g.chr12:46633559C>T c.25G>A p.E9K TCGA-3X-AAVC-01A-21D-A417-09 SLC38A6 14 61504396 61504396 + Missense_Mutation SNP C A g.chr14:61504396C>A c.619C>A p.L207I TCGA-W5-AA33-01A-11D-A417-09 SLC39A4 8 145640396 145640396 + Missense_Mutation SNP G T g.chr8:145640396G>T c.766C>A p.L256I TCGA-W5-AA2U-01A-11D-A417-09 SLC39A5 12 56630250 56630250 + Missense_Mutation SNP C T g.chr12:56630250C>T c.1016C>T p.A339V TCGA-ZH-A8Y2-01A-11D-A417-09 SLC39A6 18 33702188 33702188 + Missense_Mutation SNP T C g.chr18:33702188T>C c.1186A>G p.M396V TCGA-W5-AA38-01A-11D-A417-09 SLC3A2 11 62649510 62649510 + Missense_Mutation SNP C A g.chr11:62649510C>A c.873C>A p.D291E TCGA-W5-AA39-01A-11D-A417-09 SLC3A2 11 62655849 62655849 + Missense_Mutation SNP T C g.chr11:62655849T>C c.1577T>C p.L526P TCGA-ZH-A8Y1-01A-11D-A417-09 SLC3A2 11 62648550 62648550 + Missense_Mutation SNP C T g.chr11:62648550C>T c.358C>T p.P120S TCGA-ZH-A8Y5-01A-11D-A417-09 SLC41A3 3 125725323 125725323 + Missense_Mutation SNP C T g.chr3:125725323C>T c.1451G>A p.C484Y TCGA-ZH-A8Y2-01A-11D-A417-09 SLC43A3 11 57177487 57177487 + Missense_Mutation SNP G C g.chr11:57177487G>C c.1168C>G p.L390V TCGA-3X-AAV9-01A-72D-A417-09 SLC43A3 11 57184113 57184113 + Silent SNP T C g.chr11:57184113T>C c.702A>G p.E234E TCGA-ZU-A8S4-01A-11D-A417-09 SLC47A2 17 19606450 19606450 + Missense_Mutation SNP A C g.chr17:19606450A>C c.1157T>G p.I386R TCGA-W5-AA39-01A-11D-A417-09 SLC4A10 2 162807340 162807340 + Silent SNP G A g.chr2:162807340G>A c.2523G>A p.R841R TCGA-ZH-A8Y6-01A-11D-A417-09 SLC4A11 20 3214919 3214919 + Missense_Mutation SNP G T g.chr20:3214919G>T c.381C>A p.H127Q TCGA-WD-A7RX-01A-12D-A417-09 SLC4A9 5 139751848 139751848 + Missense_Mutation SNP C G g.chr5:139751848C>G c.2764C>G p.R922G TCGA-YR-A95A-01A-12D-A417-09 SLC5A1 22 32500775 32500775 + Silent SNP C G g.chr22:32500775C>G c.1668C>G p.L556L TCGA-W5-AA33-01A-11D-A417-09 SLC5A1 22 32482270 32482270 + Missense_Mutation SNP C G g.chr22:32482270C>G c.1085C>G p.T362S TCGA-W5-AA34-01A-11D-A417-09 SLC5A10 17 18880179 18880179 + Silent SNP C A g.chr17:18880179C>A c.859C>A p.R287R TCGA-W5-AA39-01A-11D-A417-09 SLC5A12 11 26725205 26725205 + Missense_Mutation SNP G T g.chr11:26725205G>T c.694C>A p.P232T TCGA-ZH-A8Y5-01A-11D-A417-09 SLC6A12 12 307123 307123 + Missense_Mutation SNP C T g.chr12:307123C>T c.893G>A p.C298Y TCGA-3X-AAVC-01A-21D-A417-09 SLC6A18 5 1232354 1232354 + Missense_Mutation SNP G A g.chr5:1232354G>A c.181G>A p.V61I TCGA-3X-AAV9-01A-72D-A417-09 SLC6A5 11 20660044 20660044 + Missense_Mutation SNP G A g.chr11:20660044G>A c.1909G>A p.A637T TCGA-W5-AA2R-01A-11D-A417-09 SLC6A6 3 14513785 14513785 + Missense_Mutation SNP T C g.chr3:14513785T>C c.1169T>C p.L390P TCGA-YR-A95A-01A-12D-A417-09 SLC7A11 4 139153507 139153507 + Missense_Mutation SNP G T g.chr4:139153507G>T c.434C>A p.A145E TCGA-3X-AAVA-01A-11D-A417-09 SLC7A2 8 17415880 17415880 + Silent SNP G T g.chr8:17415880G>T c.1272G>T p.L424L TCGA-W5-AA2U-01A-11D-A417-09 SLC7A2 8 17401015 17401015 + Missense_Mutation SNP C T g.chr8:17401015C>T c.167C>T p.A56V TCGA-W5-AA33-01A-11D-A417-09 SLC7A3 23 70149683 70149683 + Silent SNP G T g.chrX:70149683G>T c.165C>A p.G55G TCGA-W5-AA2Q-01A-11D-A417-09 SLC7A7 14 23242838 23242838 + Missense_Mutation SNP C T g.chr14:23242838C>T c.1517G>A p.R506Q TCGA-W5-AA2H-01A-31D-A417-09 SLC8A3 14 70634323 70634323 + Missense_Mutation SNP T G g.chr14:70634323T>G c.817A>C p.I273L TCGA-ZU-A8S4-01A-11D-A417-09 SLC9A10 3 111985124 111985124 + Missense_Mutation SNP G T g.chr3:111985124G>T c.839C>A p.T280K TCGA-3X-AAVE-01A-11D-A417-09 SLC9A10 3 111958835 111958835 + Nonsense_Mutation SNP G C g.chr3:111958835G>C c.1298C>G p.S433* TCGA-W5-AA2Z-01A-11D-A417-09 SLC9A3 5 488540 488540 + Missense_Mutation SNP G T g.chr5:488540G>T c.566C>A p.A189E TCGA-ZH-A8Y2-01A-11D-A417-09 SLC9A3 5 476666 476666 + Missense_Mutation SNP G A g.chr5:476666G>A c.1882C>T p.R628W TCGA-ZU-A8S4-01A-11D-A417-09 SLC9A7 23 46541898 46541898 + Missense_Mutation SNP G T g.chrX:46541898G>T c.398C>A p.T133N TCGA-ZH-A8Y2-01A-11D-A417-09 SLC9A9 3 143567100 143567100 + Missense_Mutation SNP A G g.chr3:143567100A>G c.65T>C p.V22A TCGA-ZH-A8Y2-01A-11D-A417-09 SLCO1B3 12 21033923 21033923 + Missense_Mutation SNP G A g.chr12:21033923G>A c.1466G>A p.C489Y TCGA-W5-AA2O-01A-11D-A417-09 SLCO2A1 3 133657273 133657273 + Splice_Site SNP C T g.chr3:133657273C>T c.1690G>A p.A564T TCGA-W5-AA31-01A-11D-A417-09 SLCO3A1 15 92706141 92706141 + Missense_Mutation SNP G T g.chr15:92706141G>T c.1909G>T p.A637S TCGA-ZU-A8S4-01A-11D-A417-09 SLCO4C1 5 101582976 101582976 + Silent SNP A G g.chr5:101582976A>G c.1791T>C p.P597P TCGA-W5-AA2Z-01A-11D-A417-09 SLCO5A1 8 70744391 70744391 + Missense_Mutation SNP C T g.chr8:70744391C>T c.518G>A p.C173Y TCGA-W5-AA38-01A-11D-A417-09 SLFN11 17 33690820 33690820 + Missense_Mutation SNP C T g.chr17:33690820C>T c.7G>A p.A3T TCGA-W5-AA2O-01A-11D-A417-09 SLFN12 17 33749505 33749505 + Silent SNP G A g.chr17:33749505G>A c.543C>T p.A181A TCGA-W5-AA2T-01A-12D-A417-09 SLIT2 4 20530586 20530586 + Silent SNP C A g.chr4:20530586C>A c.1477C>A p.R493R TCGA-W5-AA2R-01A-11D-A417-09 SLIT2 4 20535338 20535338 + Splice_Site SNP T C g.chr4:20535338T>C c.1832T>C p.L611S TCGA-ZH-A8Y4-01A-11D-A417-09 SLITRK2 23 144904919 144904919 + Missense_Mutation SNP C T g.chrX:144904919C>T c.976C>T p.P326S TCGA-ZH-A8Y2-01A-11D-A417-09 SLMO2 20 57611616 57611616 + Silent SNP T C g.chr20:57611616T>C c.375A>G p.T125T TCGA-W5-AA39-01A-11D-A417-09 SLPI 20 43882219 43882219 + Missense_Mutation SNP G T g.chr20:43882219G>T c.241C>A p.P81T TCGA-ZH-A8Y1-01A-11D-A417-09 SLURP1 8 143823221 143823221 + Splice_Site SNP C A g.chr8:143823221C>A c.178G>T p.E60* TCGA-4G-AAZO-01A-12D-A417-09 SMAD5 5 135498966 135498966 + Missense_Mutation SNP A T g.chr5:135498966A>T c.661A>T p.T221S TCGA-W5-AA2T-01A-12D-A417-09 SMAP1 6 71567931 71567931 + Splice_Site SNP A G g.chr6:71567931A>G c.1268A>G p.Q423R TCGA-ZH-A8Y5-01A-11D-A417-09 SMARCA2 9 2115849 2115849 + Missense_Mutation SNP C T g.chr9:2115849C>T c.3484C>T p.R1162C TCGA-W5-AA2Q-01A-11D-A417-09 SMARCA4 19 11097625 11097625 + Missense_Mutation SNP C T g.chr19:11097625C>T c.805C>T p.P269S TCGA-W5-AA34-01A-11D-A417-09 SMARCA4 19 11141508 11141508 + Missense_Mutation SNP G T g.chr19:11141508G>T c.3485G>T p.G1162V TCGA-ZU-A8S4-01A-11D-A417-09 SMARCA5 4 144460080 144460080 + Missense_Mutation SNP C A g.chr4:144460080C>A c.1759C>A p.L587I TCGA-W5-AA2I-01A-32D-A417-09 SMARCA5 4 144451680 144451680 + Splice_Site SNP G T g.chr4:144451680G>T TCGA-W5-AA2X-01A-11D-A417-09 SMARCA5 4 144474311 144474311 + Nonsense_Mutation SNP G T g.chr4:144474311G>T c.3133G>T p.G1045* TCGA-W5-AA34-01A-11D-A417-09 SMARCAL1 2 217315693 217315693 + Missense_Mutation SNP G A g.chr2:217315693G>A c.1976G>A p.R659H TCGA-W5-AA2I-01A-32D-A417-09 SMARCC1 3 47716999 47716999 + Missense_Mutation SNP C T g.chr3:47716999C>T c.1805G>A p.R602H TCGA-W5-AA2Z-01A-11D-A417-09 SMARCC1 3 47702803 47702803 + Silent SNP G T g.chr3:47702803G>T c.2301C>A p.P767P TCGA-W5-AA33-01A-11D-A417-09 SMARCC2 12 56578658 56578658 + Silent SNP C T g.chr12:56578658C>T c.462G>A p.G154G TCGA-W5-AA39-01A-11D-A417-09 SMARCD1 12 50482343 50482359 + Frame_Shift_Del DEL AAGTTCTCTTCCTTTTT - g.chr12:50482343_50482359delAAGTTCTCTTCCTTTTT c.694_710delAAGTTCTCTTCCTTTTT p.KFSSFF232fs TCGA-ZH-A8Y2-01A-11D-A417-09 SMARCD2 17 61914839 61914839 + Silent SNP C T g.chr17:61914839C>T c.363G>A p.V121V TCGA-3X-AAVC-01A-21D-A417-09 SMC1B 22 45795219 45795219 + Missense_Mutation SNP A G g.chr22:45795219A>G c.869T>C p.L290P TCGA-ZH-A8Y6-01A-11D-A417-09 SMC3 10 112352927 112352927 + Nonsense_Mutation SNP G T g.chr10:112352927G>T c.1909G>T p.E637* TCGA-W5-AA2X-01A-11D-A417-09 SMC4 3 160150976 160150976 + Silent SNP C A g.chr3:160150976C>A c.3693C>A p.S1231S TCGA-W5-AA39-01A-11D-A417-09 SMC5 9 72967112 72967112 + Silent SNP G A g.chr9:72967112G>A c.3171G>A p.L1057L TCGA-4G-AAZO-01A-12D-A417-09 SMC5 9 72882839 72882839 + Splice_Site SNP G T g.chr9:72882839G>T c.328G>T p.V110F TCGA-W6-AA0S-01A-11D-A417-09 SMC6 2 17906563 17906563 + Silent SNP C T g.chr2:17906563C>T c.687G>A p.T229T TCGA-ZH-A8Y2-01A-11D-A417-09 SMG1 16 18895427 18895427 + Missense_Mutation SNP C A g.chr16:18895427C>A c.1084G>T p.G362C TCGA-3X-AAVC-01A-21D-A417-09 SMG1 16 18882689 18882689 + Missense_Mutation SNP T C g.chr16:18882689T>C c.2299A>G p.N767D TCGA-W5-AA2U-01A-11D-A417-09 SMG1 16 18865012 18865012 + Missense_Mutation SNP T G g.chr16:18865012T>G c.4661A>C p.N1554T TCGA-W5-AA39-01A-11D-A417-09 SMG1 16 18882689 18882690 + Missense_Mutation DNP TG CA g.chr16:18882689_18882690TG>CA c.2298_2299CA>TG p.N767D TCGA-W6-AA0S-01A-11D-A417-09 SMG6 17 1972077 1972077 + Missense_Mutation SNP A C g.chr17:1972077A>C c.3830T>G p.L1277R TCGA-W5-AA33-01A-11D-A417-09 SMG7 1 183514431 183514431 + Missense_Mutation SNP A G g.chr1:183514431A>G c.2354A>G p.H785R TCGA-W6-AA0S-01A-11D-A417-09 SMPD3 16 68395639 68395639 + Missense_Mutation SNP C T g.chr16:68395639C>T c.1733G>A p.R578H TCGA-W5-AA2G-01A-11D-A417-09 SMS 23 21996164 21996164 + Nonsense_Mutation SNP G T g.chrX:21996164G>T c.592G>T p.G198* TCGA-ZH-A8Y4-01A-11D-A417-09 SMURF1 7 98636132 98636132 + Missense_Mutation SNP G T g.chr7:98636132G>T c.1645C>A p.P549T TCGA-ZH-A8Y4-01A-11D-A417-09 SMYD2 1 214503534 214503534 + Silent SNP C A g.chr1:214503534C>A c.729C>A p.L243L TCGA-W5-AA39-01A-11D-A417-09 SMYD4 17 1703342 1703342 + Missense_Mutation SNP G A g.chr17:1703342G>A c.1346C>T p.A449V TCGA-W5-AA2X-01A-11D-A417-09 SNAI3 16 88747696 88747696 + Missense_Mutation SNP G A g.chr16:88747696G>A c.503C>T p.A168V TCGA-W5-AA2Q-01A-11D-A417-09 SNCAIP 5 121758570 121758570 + Missense_Mutation SNP C A g.chr5:121758570C>A c.138C>A p.S46R TCGA-WD-A7RX-01A-12D-A417-09 SNCG 10 88718478 88718478 + Missense_Mutation SNP C A g.chr10:88718478C>A c.24C>A p.F8L TCGA-ZH-A8Y2-01A-11D-A417-09 SND1 7 127724776 127724776 + Splice_Site SNP G A g.chr7:127724776G>A c.2111G>A p.G704D TCGA-W5-AA2X-01A-11D-A417-09 SNED1 2 241979571 241979571 + Silent SNP C T g.chr2:241979571C>T c.1125C>T p.C375C TCGA-4G-AAZT-01A-11D-A417-09 SNED1 2 241976736 241976736 + Silent SNP C T g.chr2:241976736C>T c.1011C>T p.C337C TCGA-W5-AA2I-01A-32D-A417-09 SNED1 2 242008393 242008393 + Missense_Mutation SNP C A g.chr2:242008393C>A c.3262C>A p.H1088N TCGA-W5-AA39-01A-11D-A417-09 SNIP1 1 38006254 38006254 + Missense_Mutation SNP G A g.chr1:38006254G>A c.430C>T p.R144W TCGA-ZH-A8Y4-01A-11D-A417-09 SNPH 20 1277062 1277062 + Missense_Mutation SNP G T g.chr20:1277062G>T c.47G>T p.R16L TCGA-ZH-A8Y1-01A-11D-A417-09 SNRNP200 2 96962808 96962808 + Splice_Site SNP G T g.chr2:96962808G>T c.1378C>A p.Q460K TCGA-3X-AAVB-01A-31D-A417-09 SNRNP200 2 96961292 96961292 + Silent SNP C T g.chr2:96961292C>T c.1776G>A p.K592K TCGA-W5-AA2I-01A-32D-A417-09 SNTG2 2 1168797 1168797 + Silent SNP C T g.chr2:1168797C>T c.519C>T p.S173S TCGA-W5-AA2U-01A-11D-A417-09 SNX13 7 17836491 17836491 + Missense_Mutation SNP G T g.chr7:17836491G>T c.2618C>A p.T873K TCGA-3X-AAVB-01A-31D-A417-09 SNX14 6 86235879 86235879 + Missense_Mutation SNP T G g.chr6:86235879T>G c.2072A>C p.Q691P TCGA-W5-AA39-01A-11D-A417-09 SNX14 6 86267770 86267770 + Missense_Mutation SNP A C g.chr6:86267770A>C c.558T>G p.I186M TCGA-W5-AA39-01A-11D-A417-09 SNX15 11 64799964 64799964 + Missense_Mutation SNP A G g.chr11:64799964A>G c.197A>G p.H66R TCGA-3X-AAVE-01A-11D-A417-09 SNX20 16 50707593 50707593 + Silent SNP G A g.chr16:50707593G>A c.675C>T p.A225A TCGA-ZH-A8Y4-01A-11D-A417-09 SNX21 20 44463735 44463735 + Missense_Mutation SNP G A g.chr20:44463735G>A c.427G>A p.D143N TCGA-W5-AA31-01A-11D-A417-09 SNX25 4 186185626 186185626 + Missense_Mutation SNP G A g.chr4:186185626G>A c.274G>A p.A92T TCGA-W5-AA2U-01A-11D-A417-09 SNX29 16 12220546 12220546 + Nonsense_Mutation SNP G T g.chr16:12220546G>T c.1459G>T p.E487* TCGA-W5-AA39-01A-11D-A417-09 SNX30 9 115598546 115598546 + Missense_Mutation SNP A G g.chr9:115598546A>G c.671A>G p.E224G TCGA-W5-AA39-01A-11D-A417-09 SNX31 8 101596346 101596346 + Missense_Mutation SNP G A g.chr8:101596346G>A c.1163C>T p.T388I TCGA-W5-AA2G-01A-11D-A417-09 SNX31 8 101601166 101601166 + Missense_Mutation SNP G T g.chr8:101601166G>T c.1020C>A p.N340K TCGA-W5-AA38-01A-11D-A417-09 SNX5 20 17928287 17928287 + Missense_Mutation SNP A C g.chr20:17928287A>C c.921T>G p.D307E TCGA-W5-AA39-01A-11D-A417-09 SNX5 20 17936035 17936035 + Missense_Mutation SNP C T g.chr20:17936035C>T c.241G>A p.E81K TCGA-W5-AA39-01A-11D-A417-09 SNX9 6 158288657 158288716 + Splice_Site DEL ACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCATGTGGACTTATTTTTA - g.chr6:158288657_158288716delACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCATGTGGACTTATTTTTA c.91_99delACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCATGTGGACTTATTTTTA p.TNP31del TCGA-3X-AAVE-01A-11D-A417-09 SOAT1 1 179312001 179312001 + Silent SNP T C g.chr1:179312001T>C c.864T>C p.T288T TCGA-W5-AA39-01A-11D-A417-09 SOAT2 12 53509269 53509269 + Missense_Mutation SNP C T g.chr12:53509269C>T c.539C>T p.A180V TCGA-ZH-A8Y5-01A-11D-A417-09 SOBP 6 107827478 107827478 + Missense_Mutation SNP G T g.chr6:107827478G>T c.268G>T p.D90Y TCGA-W5-AA2U-01A-11D-A417-09 SOCS4 14 55510680 55510680 + Silent SNP C T g.chr14:55510680C>T c.921C>T p.T307T TCGA-YR-A95A-01A-12D-A417-09 SON 21 34948697 34948697 + Silent SNP A G g.chr21:34948697A>G c.7248A>G p.R2416R TCGA-W5-AA2H-01A-31D-A417-09 SORBS1 10 97197306 97197306 + Missense_Mutation SNP T A g.chr10:97197306T>A c.17A>T p.D6V TCGA-4G-AAZO-01A-12D-A417-09 SORBS1 10 97106174 97106174 + Silent SNP A C g.chr10:97106174A>C c.2418T>G p.A806A TCGA-W5-AA30-01A-31D-A417-09 SORCS3 10 106959842 106959842 + Missense_Mutation SNP G A g.chr10:106959842G>A c.2095G>A p.E699K TCGA-W5-AA38-01A-11D-A417-09 SOS1 2 39222277 39222277 + Missense_Mutation SNP G T g.chr2:39222277G>T c.3333C>A p.S1111R TCGA-W5-AA2O-01A-11D-A417-09 SOX2 3 181430207 181430226 + Frame_Shift_Del DEL GCGGCGGCGGCAACTCCACC - g.chr3:181430207_181430226delGCGGCGGCGGCAACTCCACC c.59_78delGCGGCGGCGGCAACTCCACC p.GGGGNST20fs TCGA-ZH-A8Y2-01A-11D-A417-09 SOX3 23 139586719 139586719 + Silent SNP G A g.chrX:139586719G>A c.507C>T p.I169I TCGA-WD-A7RX-01A-12D-A417-09 SOX5 12 23757376 23757376 + Missense_Mutation SNP G A g.chr12:23757376G>A c.1109C>T p.S370F TCGA-W6-AA0S-01A-11D-A417-09 SOX6 11 16208345 16208345 + Missense_Mutation SNP C A g.chr11:16208345C>A c.692G>T p.R231L TCGA-W5-AA33-01A-11D-A417-09 SP100 2 231314943 231314943 + Missense_Mutation SNP C A g.chr2:231314943C>A c.793C>A p.P265T TCGA-ZH-A8Y6-01A-11D-A417-09 SP140 2 231159016 231159016 + Missense_Mutation SNP C T g.chr2:231159016C>T c.1999C>T p.R667C TCGA-W5-AA2I-01A-32D-A417-09 SP140L 2 231256872 231256873 + Frame_Shift_Ins INS - G g.chr2:231256872_231256873insG c.1035_1036insG p.G346fs TCGA-W6-AA0S-01A-11D-A417-09 SP4 7 21468306 21468306 + Missense_Mutation SNP G A g.chr7:21468306G>A c.19G>A p.E7K TCGA-3X-AAVB-01A-31D-A417-09 SP7 12 53722690 53722690 + Missense_Mutation SNP T C g.chr12:53722690T>C c.536A>G p.Q179R TCGA-3X-AAVA-01A-11D-A417-09 SPAG16 2 215275017 215275017 + Missense_Mutation SNP G A g.chr2:215275017G>A c.1874G>A p.G625D TCGA-4G-AAZO-01A-12D-A417-09 SPAG16 2 214794782 214794782 + Missense_Mutation SNP C T g.chr2:214794782C>T c.1313C>T p.A438V TCGA-4G-AAZT-01A-11D-A417-09 SPAG4 20 34205495 34205495 + Missense_Mutation SNP G T g.chr20:34205495G>T c.463G>T p.V155F TCGA-W5-AA39-01A-11D-A417-09 SPAG9 17 49059961 49059961 + Missense_Mutation SNP G T g.chr17:49059961G>T c.3161C>A p.T1054N TCGA-W5-AA2Q-01A-11D-A417-09 SPATA18 4 52945942 52945942 + Missense_Mutation SNP G T g.chr4:52945942G>T c.1212G>T p.K404N TCGA-ZH-A8Y4-01A-11D-A417-09 SPATA20 17 48625960 48625960 + Missense_Mutation SNP C A g.chr17:48625960C>A c.294C>A p.N98K TCGA-W5-AA2G-01A-11D-A417-09 SPATA20 17 48629444 48629444 + Missense_Mutation SNP G T g.chr17:48629444G>T c.1812G>T p.Q604H TCGA-ZH-A8Y4-01A-11D-A417-09 SPATA20 17 48626266 48626266 + Missense_Mutation SNP G T g.chr17:48626266G>T c.409G>T p.V137L TCGA-ZU-A8S4-01A-11D-A417-09 SPATA22 17 3370841 3370841 + Silent SNP C T g.chr17:3370841C>T c.51G>A p.L17L TCGA-W5-AA30-01A-31D-A417-09 SPATA4 4 177114178 177114178 + Missense_Mutation SNP G A g.chr4:177114178G>A c.398C>T p.T133I TCGA-W5-AA2I-01A-32D-A417-09 SPATA5L1 15 45697670 45697670 + Missense_Mutation SNP G T g.chr15:45697670G>T c.1242G>T p.E414D TCGA-W6-AA0S-01A-11D-A417-09 SPATS1 6 44310855 44310855 + Missense_Mutation SNP G T g.chr6:44310855G>T c.23G>T p.G8V TCGA-W5-AA2W-01A-11D-A417-09 SPATS2 12 49918486 49918486 + Missense_Mutation SNP A G g.chr12:49918486A>G c.1133A>G p.Y378C TCGA-W5-AA2I-01A-32D-A417-09 SPATS2L 2 201337558 201337558 + Missense_Mutation SNP C G g.chr2:201337558C>G c.1064C>G p.T355R TCGA-ZH-A8Y8-01A-51D-A417-09 SPEG 2 220329177 220329177 + Missense_Mutation SNP C T g.chr2:220329177C>T c.2728C>T p.R910C TCGA-ZU-A8S4-01A-11D-A417-09 SPEN 1 16261510 16261510 + Frame_Shift_Del DEL G - g.chr1:16261510delG c.8775delG p.Q2925fs TCGA-4G-AAZO-01A-12D-A417-09 SPG11 15 44888451 44888451 + Missense_Mutation SNP G T g.chr15:44888451G>T c.4264C>A p.Q1422K TCGA-W5-AA2R-01A-11D-A417-09 SPG21 15 65267060 65267060 + Missense_Mutation SNP C A g.chr15:65267060C>A c.332G>T p.G111V TCGA-ZH-A8Y8-01A-51D-A417-09 SPHAR 1 229440935 229440935 + Nonsense_Mutation SNP C A g.chr1:229440935C>A c.54C>A p.C18* TCGA-W5-AA2X-01A-11D-A417-09 SPHK2 19 49132111 49132111 + Missense_Mutation SNP G T g.chr19:49132111G>T c.1046G>T p.R349L TCGA-W5-AA2U-01A-11D-A417-09 SPHK2 19 49132945 49132945 + Missense_Mutation SNP A C g.chr19:49132945A>C c.1880A>C p.E627A TCGA-W5-AA39-01A-11D-A417-09 SPHK2 19 49132949 49132949 + Nonsense_Mutation SNP T A g.chr19:49132949T>A c.1884T>A p.Y628* TCGA-W5-AA39-01A-11D-A417-09 SPHKAP 2 228996762 228996762 + Silent SNP C T g.chr2:228996762C>T c.72G>A p.P24P TCGA-W5-AA33-01A-11D-A417-09 SPHKAP 2 228996763 228996763 + Missense_Mutation SNP G T g.chr2:228996763G>T c.71C>A p.P24Q TCGA-ZU-A8S4-01A-11D-A417-09 SPINK5 5 147498034 147498034 + Missense_Mutation SNP A T g.chr5:147498034A>T c.2147A>T p.N716I TCGA-W5-AA39-01A-11D-A417-09 SPIRE2 16 89920723 89920723 + Silent SNP G T g.chr16:89920723G>T c.675G>T p.P225P TCGA-3X-AAVC-01A-21D-A417-09 SPNS1 16 28993745 28993745 + Missense_Mutation SNP G A g.chr16:28993745G>A c.1034G>A p.R345H TCGA-W5-AA2U-01A-11D-A417-09 SPOCD1 1 32280314 32280314 + Silent SNP C T g.chr1:32280314C>T c.621G>A p.K207K TCGA-W5-AA2W-01A-11D-A417-09 SPON2 4 1161434 1161434 + Silent SNP C T g.chr4:1161434C>T c.822G>A p.T274T TCGA-3X-AAVA-01A-11D-A417-09 SPRED1 15 38643598 38643607 + Frame_Shift_Del DEL AGACCCTATT - g.chr15:38643598_38643607delAGACCCTATT c.1068_1077delAGACCCTATT p.PDPI356fs TCGA-ZD-A8I3-01A-11D-A417-09 SPRED1 15 38643613 38643613 + Missense_Mutation SNP A C g.chr15:38643613A>C c.1083A>C p.R361S TCGA-ZD-A8I3-01A-11D-A417-09 SPRY1 4 124322966 124322966 + Missense_Mutation SNP C A g.chr4:124322966C>A c.220C>A p.H74N TCGA-ZH-A8Y2-01A-11D-A417-09 SPRY4 5 141694180 141694180 + Missense_Mutation SNP C A g.chr5:141694180C>A c.494G>T p.C165F TCGA-W5-AA39-01A-11D-A417-09 SPTA1 1 158605703 158605703 + Splice_Site SNP C T g.chr1:158605703C>T c.5432G>A p.R1811Q TCGA-W5-AA2G-01A-11D-A417-09 SPTA1 1 158618388 158618388 + Missense_Mutation SNP C T g.chr1:158618388C>T c.3625G>A p.A1209T TCGA-W5-AA2H-01A-31D-A417-09 SPTAN1 9 131348107 131348107 + Nonsense_Mutation SNP C T g.chr9:131348107C>T c.2641C>T p.Q881* TCGA-3X-AAVE-01A-11D-A417-09 SPTBN1 2 54858390 54858390 + Missense_Mutation SNP G T g.chr2:54858390G>T c.3206G>T p.R1069L TCGA-3X-AAV9-01A-72D-A417-09 SPTBN1 2 54858076 54858076 + Silent SNP C T g.chr2:54858076C>T c.2892C>T p.C964C TCGA-W5-AA2R-01A-11D-A417-09 SPTBN1 2 54877117 54877117 + Silent SNP G T g.chr2:54877117G>T c.5568G>T p.L1856L TCGA-W5-AA2U-01A-11D-A417-09 SPTBN1 2 54857084 54857084 + Missense_Mutation SNP A G g.chr2:54857084A>G c.2725A>G p.N909D TCGA-W5-AA39-01A-11D-A417-09 SPTBN2 11 66463945 66463945 + Silent SNP G A g.chr11:66463945G>A c.4081C>T p.L1361L TCGA-W5-AA30-01A-31D-A417-09 SPTBN2 11 66460137 66460137 + Missense_Mutation SNP C T g.chr11:66460137C>T c.5060G>A p.R1687Q TCGA-W5-AA31-01A-11D-A417-09 SPTBN4 19 40993696 40993696 + Missense_Mutation SNP G T g.chr19:40993696G>T c.262G>T p.D88Y TCGA-ZH-A8Y6-01A-11D-A417-09 SPTBN5 15 42168834 42168834 + Missense_Mutation SNP T C g.chr15:42168834T>C c.3863A>G p.Q1288R TCGA-W5-AA39-01A-11D-A417-09 SPTY2D1 11 18636621 18636621 + Missense_Mutation SNP C G g.chr11:18636621C>G c.1200G>C p.Q400H TCGA-ZH-A8Y6-01A-11D-A417-09 SQRDL 15 45954270 45954270 + Missense_Mutation SNP G T g.chr15:45954270G>T c.352G>T p.V118L TCGA-W5-AA2O-01A-11D-A417-09 SRA1 5 139931630 139931630 + IGR SNP A T g.chr5:139931630A>T TCGA-W5-AA2U-01A-11D-A417-09 SRBD1 2 45807033 45807033 + Silent SNP G A g.chr2:45807033G>A c.1053C>T p.Y351Y TCGA-W5-AA2U-01A-11D-A417-09 SRCAP 16 30722104 30722104 + Silent SNP G A g.chr16:30722104G>A c.1164G>A p.Q388Q TCGA-3X-AAVC-01A-21D-A417-09 SRCAP 16 30734428 30734428 + Missense_Mutation SNP C T g.chr16:30734428C>T c.4037C>T p.P1346L TCGA-W5-AA39-01A-11D-A417-09 SRCAP 16 30749940 30749940 + Frame_Shift_Del DEL G - g.chr16:30749940delG c.8579delG p.R2860fs TCGA-W6-AA0S-01A-11D-A417-09 SREBF1 17 17722483 17722483 + Silent SNP A G g.chr17:17722483A>G c.912T>C p.P304P TCGA-W5-AA39-01A-11D-A417-09 SRFBP1 5 121362644 121362644 + Silent SNP A T g.chr5:121362644A>T c.1113A>T p.P371P TCGA-W5-AA2O-01A-11D-A417-09 SRGAP1 12 64505698 64505698 + Silent SNP T C g.chr12:64505698T>C c.2076T>C p.T692T TCGA-W5-AA30-01A-31D-A417-09 SRGAP1 12 64505656 64505656 + Silent SNP T C g.chr12:64505656T>C c.2034T>C p.H678H TCGA-W5-AA39-01A-11D-A417-09 SRP54 14 35468824 35468824 + Missense_Mutation SNP A G g.chr14:35468824A>G c.139A>G p.K47E TCGA-W5-AA39-01A-11D-A417-09 SRPR 11 126134923 126134923 + Missense_Mutation SNP T C g.chr11:126134923T>C c.1456A>G p.M486V TCGA-4G-AAZT-01A-11D-A417-09 SRPR 11 126134929 126134929 + Missense_Mutation SNP G T g.chr11:126134929G>T c.1450C>A p.R484S TCGA-W5-AA2U-01A-11D-A417-09 SRPR 11 126135636 126135636 + Missense_Mutation SNP G T g.chr11:126135636G>T c.1134C>A p.F378L TCGA-W5-AA2U-01A-11D-A417-09 SRPX2 23 99925824 99925824 + Missense_Mutation SNP G T g.chrX:99925824G>T c.1238G>T p.R413L TCGA-3X-AAV9-01A-72D-A417-09 SRPX2 23 99921900 99921900 + Missense_Mutation SNP C A g.chrX:99921900C>A c.931C>A p.Q311K TCGA-W5-AA2U-01A-11D-A417-09 SSBP2 5 80724478 80724478 + Missense_Mutation SNP T C g.chr5:80724478T>C c.982A>G p.S328G TCGA-ZH-A8Y1-01A-11D-A417-09 SSH1 12 109182282 109182282 + Missense_Mutation SNP C A g.chr12:109182282C>A c.2632G>T p.G878W TCGA-4G-AAZO-01A-12D-A417-09 SSH3 11 67074544 67074544 + Missense_Mutation SNP C T g.chr11:67074544C>T c.496C>T p.P166S TCGA-W5-AA2Z-01A-11D-A417-09 SSPO 7 149503932 149503932 + RNA SNP C T g.chr7:149503932C>T TCGA-3X-AAV9-01A-72D-A417-09 SSPO 7 149473162 149473162 + 5'Flank SNP C T g.chr7:149473162C>T TCGA-W5-AA33-01A-11D-A417-09 SSPO 7 149503923 149503924 + RNA DNP TA GT g.chr7:149503923_149503924TA>GT TCGA-WD-A7RX-01A-12D-A417-09 SSRP1 11 57100235 57100235 + Missense_Mutation SNP C A g.chr11:57100235C>A c.632G>T p.R211L TCGA-ZH-A8Y1-01A-11D-A417-09 SSTR4 20 23016852 23016852 + Silent SNP C T g.chr20:23016852C>T c.732C>T p.R244R TCGA-ZD-A8I3-01A-11D-A417-09 ST3GAL3 1 44303969 44303969 + Silent SNP G T g.chr1:44303969G>T c.288G>T p.T96T TCGA-ZH-A8Y1-01A-11D-A417-09 ST3GAL3 1 44290442 44290442 + Intron SNP C T g.chr1:44290442C>T TCGA-ZH-A8Y2-01A-11D-A417-09 ST5 11 8752429 8752429 + Missense_Mutation SNP C G g.chr11:8752429C>G c.408G>C p.Q136H TCGA-ZH-A8Y8-01A-51D-A417-09 ST6GAL1 3 186760575 186760575 + Missense_Mutation SNP A C g.chr3:186760575A>C c.84A>C p.E28D TCGA-W5-AA39-01A-11D-A417-09 ST6GALNAC3 1 76540564 76540564 + Missense_Mutation SNP C G g.chr1:76540564C>G c.13C>G p.L5V TCGA-W5-AA30-01A-31D-A417-09 ST6GALNAC5 1 77334298 77334298 + Silent SNP G A g.chr1:77334298G>A c.132G>A p.Q44Q TCGA-W5-AA2X-01A-11D-A417-09 ST7L 1 113140706 113140706 + Missense_Mutation SNP T C g.chr1:113140706T>C c.509A>G p.Y170C TCGA-W5-AA39-01A-11D-A417-09 ST8SIA4 5 100222104 100222104 + Missense_Mutation SNP C T g.chr5:100222104C>T c.446G>A p.G149D TCGA-4G-AAZO-01A-12D-A417-09 STAB1 3 52536050 52536050 + Nonsense_Mutation SNP C A g.chr3:52536050C>A c.360C>A p.C120* TCGA-W5-AA33-01A-11D-A417-09 STAB2 12 104100719 104100719 + Silent SNP C A g.chr12:104100719C>A c.4146C>A p.A1382A TCGA-4G-AAZO-01A-12D-A417-09 STAB2 12 104126866 104126866 + Missense_Mutation SNP C T g.chr12:104126866C>T c.5366C>T p.A1789V TCGA-4G-AAZT-01A-11D-A417-09 STAG1 3 136136813 136136813 + Splice_Site SNP C A g.chr3:136136813C>A c.2110G>T p.A704S TCGA-3X-AAVC-01A-21D-A417-09 STAG1 3 136059372 136059372 + Silent SNP A G g.chr3:136059372A>G c.3633T>C p.D1211D TCGA-W5-AA39-01A-11D-A417-09 STAG2 23 123220534 123220534 + Missense_Mutation SNP G A g.chrX:123220534G>A c.3191G>A p.S1064N TCGA-3X-AAVB-01A-31D-A417-09 STAG2 23 123200253 123200253 + Missense_Mutation SNP A C g.chrX:123200253A>C c.2232A>C p.Q744H TCGA-W5-AA39-01A-11D-A417-09 STAP2 19 4327373 4327373 + Silent SNP C T g.chr19:4327373C>T c.600G>A p.V200V TCGA-W5-AA39-01A-11D-A417-09 STARD5 15 81614763 81614763 + Missense_Mutation SNP G C g.chr15:81614763G>C c.268C>G p.Q90E TCGA-W5-AA39-01A-11D-A417-09 STAT1 2 191859926 191859926 + Missense_Mutation SNP T C g.chr2:191859926T>C c.805A>G p.S269G TCGA-W5-AA39-01A-11D-A417-09 STAT2 12 56743381 56743381 + Missense_Mutation SNP T A g.chr12:56743381T>A c.1249A>T p.S417C TCGA-W5-AA39-01A-11D-A417-09 STAT2 12 56743970 56743970 + Silent SNP G T g.chr12:56743970G>T c.1120C>A p.R374R TCGA-ZH-A8Y6-01A-11D-A417-09 STAT5A 17 40460310 40460310 + Missense_Mutation SNP C A g.chr17:40460310C>A c.2021C>A p.P674H TCGA-4G-AAZO-01A-12D-A417-09 STAT6 12 57498569 57498569 + Missense_Mutation SNP G T g.chr12:57498569G>T c.1029C>A p.N343K TCGA-3X-AAVB-01A-31D-A417-09 STAT6 12 57499001 57499001 + Missense_Mutation SNP T A g.chr12:57499001T>A c.934A>T p.R312W TCGA-W6-AA0S-01A-11D-A417-09 STBD1 4 77230789 77230789 + Missense_Mutation SNP C T g.chr4:77230789C>T c.713C>T p.T238I TCGA-ZH-A8Y6-01A-11D-A417-09 STIL 1 47770618 47770618 + Missense_Mutation SNP G A g.chr1:47770618G>A c.95C>T p.A32V TCGA-W5-AA31-01A-11D-A417-09 STIP1 11 63965024 63965024 + Nonsense_Mutation SNP G T g.chr11:63965024G>T c.859G>T p.E287* TCGA-W5-AA2X-01A-11D-A417-09 STK11 19 1207097 1207098 + Frame_Shift_Del DEL AG - g.chr19:1207097_1207098delAG c.185_186delAG p.K62fs TCGA-W5-AA2X-01A-11D-A417-09 STK11IP 2 220474091 220474091 + Frame_Shift_Del DEL C - g.chr2:220474091delC c.1933delC p.L645fs TCGA-W5-AA39-01A-11D-A417-09 STK11IP 2 220474092 220474092 + Missense_Mutation SNP T G g.chr2:220474092T>G c.1934T>G p.L645R TCGA-W5-AA39-01A-11D-A417-09 STK11IP 2 220473349 220473349 + Nonsense_Mutation SNP G T g.chr2:220473349G>T c.1648G>T p.E550* TCGA-ZH-A8Y4-01A-11D-A417-09 STK3 8 99786981 99786981 + Missense_Mutation SNP C A g.chr8:99786981C>A c.93G>T p.E31D TCGA-W5-AA2X-01A-11D-A417-09 STK31 7 23826512 23826512 + Missense_Mutation SNP C T g.chr7:23826512C>T c.2456C>T p.A819V TCGA-W5-AA33-01A-11D-A417-09 STK32C 10 134039116 134039116 + Missense_Mutation SNP A C g.chr10:134039116A>C c.336T>G p.H112Q TCGA-W5-AA39-01A-11D-A417-09 STK36 2 219563551 219563551 + Missense_Mutation SNP G T g.chr2:219563551G>T c.3284G>T p.S1095I TCGA-WD-A7RX-01A-12D-A417-09 STK36 2 219561301 219561301 + Missense_Mutation SNP C T g.chr2:219561301C>T c.2563C>T p.L855F TCGA-ZU-A8S4-01A-11D-A417-09 STK39 2 169038515 169038515 + Missense_Mutation SNP T G g.chr2:169038515T>G c.294A>C p.K98N TCGA-W5-AA39-01A-11D-A417-09 STK40 1 36819995 36819995 + Missense_Mutation SNP A C g.chr1:36819995A>C c.593T>G p.L198R TCGA-WD-A7RX-01A-12D-A417-09 STOX1 10 70645255 70645259 + Frame_Shift_Del DEL ACCCT - g.chr10:70645255_70645259delACCCT c.1703_1707delACCCT p.DP568fs TCGA-ZD-A8I3-01A-11D-A417-09 STOX2 4 184932087 184932087 + Missense_Mutation SNP G T g.chr4:184932087G>T c.2096G>T p.S699I TCGA-3X-AAVE-01A-11D-A417-09 STOX2 4 184931278 184931278 + Silent SNP G T g.chr4:184931278G>T c.1287G>T p.V429V TCGA-W5-AA2G-01A-11D-A417-09 STOX2 4 184931986 184931986 + Silent SNP C T g.chr4:184931986C>T c.1995C>T p.P665P TCGA-W5-AA39-01A-11D-A417-09 STRADB 2 202344886 202344886 + Silent SNP C T g.chr2:202344886C>T c.1245C>T p.Y415Y TCGA-4G-AAZT-01A-11D-A417-09 STRC 15 43893654 43893654 + Silent SNP G T g.chr15:43893654G>T c.4641C>A p.I1547I TCGA-W5-AA31-01A-11D-A417-09 STRN 2 37084999 37084999 + Splice_Site SNP C G g.chr2:37084999C>G c.1837G>C p.E613Q TCGA-W5-AA39-01A-11D-A417-09 STS 23 7177472 7177482 + Frame_Shift_Del DEL TGGGATCTCTT - g.chrX:7177472_7177482delTGGGATCTCTT c.480_490delTGGGATCTCTT p.GISL161fs TCGA-W5-AA39-01A-11D-A417-09 STT3A 11 125484040 125484040 + Missense_Mutation SNP G T g.chr11:125484040G>T c.1613G>T p.R538L TCGA-4G-AAZO-01A-12D-A417-09 STX3 11 59554567 59554567 + Nonsense_Mutation SNP A T g.chr11:59554567A>T c.172A>T p.K58* TCGA-W5-AA39-01A-11D-A417-09 STX3 11 59560628 59560628 + Missense_Mutation SNP G A g.chr11:59560628G>A c.523G>A p.A175T TCGA-ZH-A8Y8-01A-51D-A417-09 STXBP2 19 7702047 7702048 + Frame_Shift_Del DEL GG - g.chr19:7702047_7702048delGG c.12_13delGG p.G5fs TCGA-ZH-A8Y6-01A-11D-A417-09 STXBP5 6 147648314 147648314 + Missense_Mutation SNP C T g.chr6:147648314C>T c.1982C>T p.A661V TCGA-W5-AA2H-01A-31D-A417-09 SUGT1 13 53240953 53240953 + Missense_Mutation SNP G T g.chr13:53240953G>T c.622G>T p.A208S TCGA-3X-AAVC-01A-21D-A417-09 SUGT1 13 53250435 53250435 + Missense_Mutation SNP C T g.chr13:53250435C>T c.794C>T p.T265M TCGA-3X-AAVE-01A-11D-A417-09 SULT4A1 22 44229568 44229568 + Missense_Mutation SNP G T g.chr22:44229568G>T c.555C>A p.H185Q TCGA-3X-AAVB-01A-31D-A417-09 SUMF1 3 4452606 4452606 + Missense_Mutation SNP C A g.chr3:4452606C>A c.897G>T p.W299C TCGA-4G-AAZO-01A-12D-A417-09 SUPT6H 17 27008381 27008381 + Missense_Mutation SNP G A g.chr17:27008381G>A c.1457G>A p.R486H TCGA-3X-AAV9-01A-72D-A417-09 SUPT6H 17 27001323 27001323 + Silent SNP C T g.chr17:27001323C>T c.132C>T p.N44N TCGA-3X-AAVC-01A-21D-A417-09 SUPT6H 17 27005649 27005649 + Missense_Mutation SNP A C g.chr17:27005649A>C c.1203A>C p.E401D TCGA-W5-AA39-01A-11D-A417-09 SUPT7L 2 27878277 27878277 + Missense_Mutation SNP G A g.chr2:27878277G>A c.937C>T p.R313C TCGA-ZH-A8Y1-01A-11D-A417-09 SUPT7L 2 27878431 27878431 + Silent SNP G T g.chr2:27878431G>T c.783C>A p.V261V TCGA-ZH-A8Y2-01A-11D-A417-09 SV2A 1 149879665 149879665 + Silent SNP G T g.chr1:149879665G>T c.1473C>A p.R491R TCGA-3X-AAV9-01A-72D-A417-09 SV2C 5 75428097 75428097 + Silent SNP C T g.chr5:75428097C>T c.522C>T p.F174F TCGA-3X-AAVE-01A-11D-A417-09 SV2C 5 75427856 75427856 + Missense_Mutation SNP A G g.chr5:75427856A>G c.281A>G p.Q94R TCGA-W5-AA31-01A-11D-A417-09 SVEP1 9 113166798 113166798 + Missense_Mutation SNP C T g.chr9:113166798C>T c.9475G>A p.D3159N TCGA-W5-AA2Q-01A-11D-A417-09 SVEP1 9 113205826 113205826 + Splice_Site SNP A T g.chr9:113205826A>T c.4638T>A p.P1546P TCGA-W5-AA39-01A-11D-A417-09 SVEP1 9 113166721 113166721 + Silent SNP C T g.chr9:113166721C>T c.9552G>A p.P3184P TCGA-ZH-A8Y8-01A-51D-A417-09 SYCE1 10 135371375 135371375 + Missense_Mutation SNP C T g.chr10:135371375C>T c.367G>A p.A123T TCGA-W5-AA2Z-01A-11D-A417-09 SYCP2 20 58470491 58470491 + Splice_Site SNP C T g.chr20:58470491C>T TCGA-W5-AA39-01A-11D-A417-09 SYN3 22 33376642 33376642 + Silent SNP G T g.chr22:33376642G>T c.357C>A p.I119I TCGA-YR-A95A-01A-12D-A417-09 SYNCRIP 6 86351134 86351134 + Silent SNP T C g.chr6:86351134T>C c.24A>G p.G8G TCGA-W5-AA39-01A-11D-A417-09 SYNE1 6 152647206 152647206 + Missense_Mutation SNP C A g.chr6:152647206C>A c.15325G>T p.A5109S TCGA-4G-AAZO-01A-12D-A417-09 SYNE1 6 152737535 152737535 + Missense_Mutation SNP C A g.chr6:152737535C>A c.6037G>T p.A2013S TCGA-ZH-A8Y4-01A-11D-A417-09 SYNE2 14 64565493 64565493 + Missense_Mutation SNP T A g.chr14:64565493T>A c.12335T>A p.L4112Q TCGA-W5-AA39-01A-11D-A417-09 SYNJ1 21 34072179 34072179 + Missense_Mutation SNP G T g.chr21:34072179G>T c.448C>A p.Q150K TCGA-4G-AAZO-01A-12D-A417-09 SYNJ1 21 34060664 34060664 + Missense_Mutation SNP C T g.chr21:34060664C>T c.803G>A p.R268H TCGA-W5-AA2X-01A-11D-A417-09 SYNJ1 21 34045776 34045776 + Silent SNP G T g.chr21:34045776G>T c.1600C>A p.R534R TCGA-W6-AA0S-01A-11D-A417-09 SYNJ2BP 14 70839843 70839843 + Silent SNP C T g.chr14:70839843C>T c.303G>A p.Q101Q TCGA-W5-AA39-01A-11D-A417-09 SYT1 12 79685872 79685872 + Missense_Mutation SNP C T g.chr12:79685872C>T c.436C>T p.L146F TCGA-W5-AA39-01A-11D-A417-09 SYT10 12 33579333 33579333 + Silent SNP G A g.chr12:33579333G>A c.249C>T p.C83C TCGA-W5-AA30-01A-31D-A417-09 SYT9 11 7334708 7334708 + Nonsense_Mutation SNP G T g.chr11:7334708G>T c.580G>T p.G194* TCGA-3X-AAVB-01A-31D-A417-09 SYTL3 6 159104022 159104022 + Splice_Site SNP G T g.chr6:159104022G>T TCGA-W5-AA2Q-01A-11D-A417-09 T 6 166580132 166580132 + Missense_Mutation SNP G A g.chr6:166580132G>A c.419C>T p.P140L TCGA-ZH-A8Y2-01A-11D-A417-09 TAAR8 6 132874213 132874213 + Missense_Mutation SNP G T g.chr6:132874213G>T c.382G>T p.D128Y TCGA-W6-AA0S-01A-11D-A417-09 TACC2 10 123970434 123970434 + Missense_Mutation SNP G T g.chr10:123970434G>T c.6494G>T p.S2165I TCGA-ZD-A8I3-01A-11D-A417-09 TACC3 4 1729639 1729639 + Silent SNP T C g.chr4:1729639T>C c.510T>C p.S170S TCGA-W5-AA30-01A-31D-A417-09 TACR2 10 71174776 71174776 + Missense_Mutation SNP G T g.chr10:71174776G>T c.512C>A p.T171N TCGA-ZH-A8Y8-01A-51D-A417-09 TADA2A 17 35827572 35827572 + Silent SNP C A g.chr17:35827572C>A c.838C>A p.R280R TCGA-4G-AAZO-01A-12D-A417-09 TAF1D 11 93469419 93469419 + Missense_Mutation SNP A C g.chr11:93469419A>C c.745T>G p.L249V TCGA-W5-AA39-01A-11D-A417-09 TAF1L 9 32631851 32631851 + Missense_Mutation SNP G A g.chr9:32631851G>A c.3727C>T p.R1243W TCGA-W5-AA2O-01A-11D-A417-09 TAF1L 9 32633786 32633786 + Missense_Mutation SNP C A g.chr9:32633786C>A c.1792G>T p.G598C TCGA-W5-AA2T-01A-12D-A417-09 TAF2 8 120795791 120795791 + Missense_Mutation SNP T C g.chr8:120795791T>C c.1942A>G p.M648V TCGA-3X-AAVC-01A-21D-A417-09 TAF2 8 120754808 120754808 + Silent SNP G C g.chr8:120754808G>C c.3303C>G p.P1101P TCGA-W5-AA39-01A-11D-A417-09 TAF3 10 8019213 8019213 + Nonsense_Mutation SNP G T g.chr10:8019213G>T c.2242G>T p.E748* TCGA-W5-AA31-01A-11D-A417-09 TAF6 7 99707848 99707848 + Missense_Mutation SNP G T g.chr7:99707848G>T c.1133C>A p.A378E TCGA-W6-AA0S-01A-11D-A417-09 TANC1 2 160035180 160035180 + Silent SNP G A g.chr2:160035180G>A c.2016G>A p.Q672Q TCGA-W5-AA2X-01A-11D-A417-09 TANK 2 162081140 162081140 + Splice_Site SNP A T g.chr2:162081140A>T TCGA-ZD-A8I3-01A-11D-A417-09 TAOK3 12 118619240 118619240 + Missense_Mutation SNP G A g.chr12:118619240G>A c.1502C>T p.A501V TCGA-W5-AA2X-01A-11D-A417-09 TAP1 6 32815404 32815404 + Nonsense_Mutation SNP C A g.chr6:32815404C>A c.1969G>T p.E657* TCGA-W5-AA38-01A-11D-A417-09 TAP1 6 32820888 32820888 + Missense_Mutation SNP G A g.chr6:32820888G>A c.706C>T p.L236F TCGA-W5-AA39-01A-11D-A417-09 TARBP1 1 234569297 234569297 + Nonsense_Mutation SNP G T g.chr1:234569297G>T c.2253C>A p.C751* TCGA-3X-AAV9-01A-72D-A417-09 TAS1R2 1 19166611 19166611 + Missense_Mutation SNP C T g.chr1:19166611C>T c.2002G>A p.A668T TCGA-W5-AA39-01A-11D-A417-09 TAS2R20 12 11150167 11150167 + Missense_Mutation SNP C T g.chr12:11150167C>T c.308G>A p.S103N TCGA-YR-A95A-01A-12D-A417-09 TAS2R3 7 141464042 141464042 + Missense_Mutation SNP G T g.chr7:141464042G>T c.84G>T p.E28D TCGA-W6-AA0S-01A-11D-A417-09 TAS2R30 12 11286072 11286072 + Missense_Mutation SNP G T g.chr12:11286072G>T c.772C>A p.Q258K TCGA-W5-AA2X-01A-11D-A417-09 TAS2R31 12 11183199 11183199 + Missense_Mutation SNP T G g.chr12:11183199T>G c.736A>C p.M246L TCGA-W5-AA2I-01A-32D-A417-09 TAS2R41 7 143175419 143175419 + Missense_Mutation SNP A G g.chr7:143175419A>G c.454A>G p.N152D TCGA-3X-AAVA-01A-11D-A417-09 TAS2R9 12 10962375 10962375 + Silent SNP A C g.chr12:10962375A>C c.300T>G p.T100T TCGA-W5-AA39-01A-11D-A417-09 TAS2R9 12 10962389 10962389 + Missense_Mutation SNP T G g.chr12:10962389T>G c.286A>C p.S96R TCGA-W5-AA39-01A-11D-A417-09 TATDN3 1 212988490 212988490 + Missense_Mutation SNP C A g.chr1:212988490C>A c.817C>A p.Q273K TCGA-ZU-A8S4-01A-11D-A417-09 TBC1D10B 16 30369466 30369486 + In_Frame_Del DEL CCGCTCCTTCTCCTGTTTCTG - g.chr16:30369466_30369486delCCGCTCCTTCTCCTGTTTCTG c.2206_2226delCAGAAACAGGAGAAGGAGCGG p.QKQEKER736del TCGA-W5-AA39-01A-11D-A417-09 TBC1D2B 15 78305220 78305220 + Missense_Mutation SNP G T g.chr15:78305220G>T c.2215C>A p.L739I TCGA-3X-AAV9-01A-72D-A417-09 TBC1D8 2 101646196 101646196 + Missense_Mutation SNP C T g.chr2:101646196C>T c.1934G>A p.G645D TCGA-YR-A95A-01A-12D-A417-09 TBC1D9 4 141677078 141677080 + In_Frame_Del DEL CCG - g.chr4:141677078_141677080delCCG c.120_122delCGG p.40_41GG>G TCGA-W5-AA30-01A-31D-A417-09 TBCCD1 3 186269020 186269020 + Missense_Mutation SNP T G g.chr3:186269020T>G c.1593A>C p.E531D TCGA-W5-AA39-01A-11D-A417-09 TBCE 1 235602123 235602123 + Silent SNP C A g.chr1:235602123C>A c.1156C>A p.R386R TCGA-W5-AA30-01A-31D-A417-09 TBCEL 11 120957511 120957511 + Silent SNP T C g.chr11:120957511T>C c.981T>C p.Y327Y TCGA-W5-AA39-01A-11D-A417-09 TBP 6 170871016 170871016 + Silent SNP G A g.chr6:170871016G>A c.192G>A p.Q64Q TCGA-W5-AA2H-01A-31D-A417-09 TBP 6 170871016 170871016 + Silent SNP G A g.chr6:170871016G>A c.192G>A p.Q64Q TCGA-WD-A7RX-01A-12D-A417-09 TBPL2 14 55903453 55903453 + Missense_Mutation SNP C T g.chr14:55903453C>T c.434G>A p.G145D TCGA-ZU-A8S4-01A-11D-A417-09 TBR1 2 162273323 162273323 + Silent SNP C T g.chr2:162273323C>T c.402C>T p.H134H TCGA-W5-AA39-01A-11D-A417-09 TBX1 22 19752563 19752563 + Missense_Mutation SNP C T g.chr22:19752563C>T c.767C>T p.A256V TCGA-W5-AA2O-01A-11D-A417-09 TBX20 7 35242184 35242184 + Missense_Mutation SNP G A g.chr7:35242184G>A c.1202C>T p.A401V TCGA-3X-AAVB-01A-31D-A417-09 TBX20 7 35271118 35271118 + Missense_Mutation SNP C A g.chr7:35271118C>A c.888G>T p.E296D TCGA-4G-AAZO-01A-12D-A417-09 TBX3 12 115114210 115114210 + Missense_Mutation SNP G T g.chr12:115114210G>T c.1007C>A p.S336Y TCGA-W5-AA39-01A-11D-A417-09 TBXA2R 19 3600542 3600542 + Missense_Mutation SNP C T g.chr19:3600542C>T c.91G>A p.A31T TCGA-W5-AA2H-01A-31D-A417-09 TCEA2 20 62699440 62699440 + Missense_Mutation SNP G T g.chr20:62699440G>T c.282G>T p.M94I TCGA-ZH-A8Y8-01A-51D-A417-09 TCEAL2 23 101382096 101382096 + Silent SNP A G g.chrX:101382096A>G c.294A>G p.G98G TCGA-W5-AA38-01A-11D-A417-09 TCEB3 1 24082492 24082492 + Missense_Mutation SNP G T g.chr1:24082492G>T c.2029G>T p.A677S TCGA-ZH-A8Y8-01A-51D-A417-09 TCERG1 5 145859643 145859643 + Silent SNP A G g.chr5:145859643A>G c.1872A>G p.K624K TCGA-WD-A7RX-01A-12D-A417-09 TCF4 18 52895478 52895478 + Nonsense_Mutation SNP G T g.chr18:52895478G>T c.1982C>A p.S661* TCGA-3X-AAVA-01A-11D-A417-09 TCF7L2 10 114901068 114901068 + Silent SNP C A g.chr10:114901068C>A c.678C>A p.P226P TCGA-YR-A95A-01A-12D-A417-09 TCHH 1 152082269 152082269 + Missense_Mutation SNP C T g.chr1:152082269C>T c.3424G>A p.E1142K TCGA-W5-AA2T-01A-12D-A417-09 TCHH 1 152084531 152084531 + Missense_Mutation SNP G C g.chr1:152084531G>C c.1162C>G p.Q388E TCGA-W6-AA0S-01A-11D-A417-09 TCHH 1 152084531 152084531 + Missense_Mutation SNP G C g.chr1:152084531G>C c.1162C>G p.Q388E TCGA-WD-A7RX-01A-12D-A417-09 TCHH 1 152082449 152082449 + Missense_Mutation SNP T C g.chr1:152082449T>C c.3244A>G p.K1082E TCGA-ZH-A8Y2-01A-11D-A417-09 TCHH 1 152085490 152085490 + Missense_Mutation SNP C T g.chr1:152085490C>T c.203G>A p.R68H TCGA-ZU-A8S4-01A-11D-A417-09 TCP11L1 11 33094146 33094146 + Missense_Mutation SNP G A g.chr11:33094146G>A c.1454G>A p.R485H TCGA-W5-AA39-01A-11D-A417-09 TDG 12 104374675 104374675 + Missense_Mutation SNP G A g.chr12:104374675G>A c.413G>A p.G138D TCGA-W5-AA38-01A-11D-A417-09 TDO2 4 156831267 156831267 + Silent SNP T G g.chr4:156831267T>G c.522T>G p.P174P TCGA-W5-AA39-01A-11D-A417-09 TDRD10 1 154493819 154493819 + Missense_Mutation SNP G T g.chr1:154493819G>T c.233G>T p.G78V TCGA-ZH-A8Y6-01A-11D-A417-09 TDRD6 6 46657979 46657979 + Missense_Mutation SNP A G g.chr6:46657979A>G c.2114A>G p.E705G TCGA-W5-AA2I-01A-32D-A417-09 TDRD9 14 104471611 104471611 + Splice_Site SNP C T g.chr14:104471611C>T c.1582C>T p.R528C TCGA-ZH-A8Y2-01A-11D-A417-09 TEAD2 19 49862735 49862735 + Missense_Mutation SNP C T g.chr19:49862735C>T c.254G>A p.R85H TCGA-WD-A7RX-01A-12D-A417-09 TECPR1 7 97852437 97852437 + Silent SNP G C g.chr7:97852437G>C c.2793C>G p.P931P TCGA-W5-AA30-01A-31D-A417-09 TECPR2 14 102891358 102891358 + Missense_Mutation SNP G T g.chr14:102891358G>T c.681G>T p.K227N TCGA-W5-AA2Q-01A-11D-A417-09 TECTA 11 120979961 120979961 + Silent SNP C T g.chr11:120979961C>T c.240C>T p.S80S TCGA-W5-AA2I-01A-32D-A417-09 TEK 9 27202967 27202967 + Missense_Mutation SNP G T g.chr9:27202967G>T c.2059G>T p.V687L TCGA-W5-AA2H-01A-31D-A417-09 TEK 9 27212798 27212798 + Missense_Mutation SNP C T g.chr9:27212798C>T c.2780C>T p.A927V TCGA-W5-AA2X-01A-11D-A417-09 TEK 9 27158032 27158032 + Missense_Mutation SNP G T g.chr9:27158032G>T c.256G>T p.V86F TCGA-ZH-A8Y6-01A-11D-A417-09 TEPP 16 58019375 58019375 + Intron SNP G A g.chr16:58019375G>A TCGA-W5-AA39-01A-11D-A417-09 TET3 2 74327840 74327840 + Missense_Mutation SNP A T g.chr2:74327840A>T c.3520A>T p.S1174C TCGA-W5-AA34-01A-11D-A417-09 TET3 2 74274265 74274265 + Silent SNP T C g.chr2:74274265T>C c.816T>C p.P272P TCGA-ZH-A8Y6-01A-11D-A417-09 TEX14 17 56699023 56699023 + Missense_Mutation SNP C T g.chr17:56699023C>T c.542G>A p.G181D TCGA-ZU-A8S4-01A-11D-A417-09 TEX15 8 30701108 30701108 + Missense_Mutation SNP G T g.chr8:30701108G>T c.5426C>A p.S1809Y TCGA-W5-AA2R-01A-11D-A417-09 TEX15 8 30690813 30690813 + Missense_Mutation SNP G T g.chr8:30690813G>T c.8359C>A p.P2787T TCGA-W5-AA33-01A-11D-A417-09 TEX2 17 62248512 62248512 + Silent SNP G T g.chr17:62248512G>T c.2619C>A p.G873G TCGA-W5-AA2Z-01A-11D-A417-09 TEX2 17 62272276 62272283 + Frame_Shift_Del DEL GATTTTCT - g.chr17:62272276_62272283delGATTTTCT c.1817_1824delAGAAAATC p.QKI606fs TCGA-W5-AA39-01A-11D-A417-09 TEX2 17 62271115 62271115 + Silent SNP C T g.chr17:62271115C>T c.1980G>A p.P660P TCGA-ZH-A8Y2-01A-11D-A417-09 TFAP2D 6 50696636 50696636 + Silent SNP T C g.chr6:50696636T>C c.666T>C p.S222S TCGA-3X-AAVC-01A-21D-A417-09 TFCP2 12 51503017 51503017 + Missense_Mutation SNP C A g.chr12:51503017C>A c.604G>T p.G202C TCGA-4G-AAZO-01A-12D-A417-09 TFG 3 100467371 100467371 + Missense_Mutation SNP G T g.chr3:100467371G>T c.1199G>T p.R400L TCGA-W6-AA0S-01A-11D-A417-09 TG 8 133885348 133885348 + Missense_Mutation SNP G T g.chr8:133885348G>T c.520G>T p.G174W TCGA-W5-AA2O-01A-11D-A417-09 TGFBR2 3 30686282 30686282 + Silent SNP G A g.chr3:30686282G>A c.138G>A p.K46K TCGA-W5-AA2Q-01A-11D-A417-09 TGFBR2 3 30664759 30664775 + Intron DEL AGACATAGTAAAGTATC - g.chr3:30664759_30664775delAGACATAGTAAAGTATC TCGA-W5-AA39-01A-11D-A417-09 TGFBR2 3 30686364 30686364 + Missense_Mutation SNP A G g.chr3:30686364A>G c.220A>G p.T74A TCGA-W5-AA39-01A-11D-A417-09 TGFBRAP1 2 105897081 105897081 + Silent SNP G A g.chr2:105897081G>A c.1221C>T p.Y407Y TCGA-W5-AA2T-01A-12D-A417-09 TGIF1 18 3447749 3447749 + Silent SNP G A g.chr18:3447749G>A c.12G>A p.S4S TCGA-W5-AA2R-01A-11D-A417-09 TGIF2 20 35219439 35219439 + Missense_Mutation SNP C A g.chr20:35219439C>A c.319C>A p.R107S TCGA-W5-AA2Q-01A-11D-A417-09 TGM1 14 24729730 24729730 + Nonsense_Mutation SNP G T g.chr14:24729730G>T c.683C>A p.S228* TCGA-W5-AA2U-01A-11D-A417-09 TH1L 20 57568731 57568731 + Missense_Mutation SNP G T g.chr20:57568731G>T c.1520G>T p.G507V TCGA-W5-AA2U-01A-11D-A417-09 THAP11 16 67876820 67876820 + Silent SNP G A g.chr16:67876820G>A c.363G>A p.Q121Q TCGA-WD-A7RX-01A-12D-A417-09 THAP4 2 242572711 242572711 + Silent SNP T A g.chr2:242572711T>A c.861A>T p.S287S TCGA-W5-AA30-01A-31D-A417-09 THAP5 7 108210000 108210001 + Frame_Shift_Ins INS - A g.chr7:108210000_108210001insA c.13_14insT p.C5fs TCGA-W5-AA2W-01A-11D-A417-09 THAP6 4 76452236 76452236 + Nonsense_Mutation SNP G T g.chr4:76452236G>T c.481G>T p.E161* TCGA-4G-AAZO-01A-12D-A417-09 THAP9 4 83839757 83839757 + Missense_Mutation SNP T C g.chr4:83839757T>C c.2392T>C p.Y798H TCGA-ZH-A8Y6-01A-11D-A417-09 THBS2 6 169632768 169632768 + Silent SNP C T g.chr6:169632768C>T c.1923G>A p.T641T TCGA-W5-AA2Q-01A-11D-A417-09 THEG 19 367205 367205 + Missense_Mutation SNP G T g.chr19:367205G>T c.773C>A p.A258E TCGA-W5-AA34-01A-11D-A417-09 THOC5 22 29913065 29913066 + Missense_Mutation DNP GC TA g.chr22:29913065_29913066GC>TA c.1633_1634GC>TA p.A545Y TCGA-W5-AA2U-01A-11D-A417-09 THOC7 3 63825392 63825392 + Missense_Mutation SNP C T g.chr3:63825392C>T c.77G>A p.R26K TCGA-W6-AA0S-01A-11D-A417-09 THPO 3 184090419 184090419 + Missense_Mutation SNP G T g.chr3:184090419G>T c.944C>A p.T315N TCGA-W5-AA2U-01A-11D-A417-09 THPO 3 184090560 184090560 + Missense_Mutation SNP G T g.chr3:184090560G>T c.803C>A p.T268N TCGA-ZH-A8Y4-01A-11D-A417-09 THPO 3 184091269 184091269 + Silent SNP G A g.chr3:184091269G>A c.330C>T p.L110L TCGA-ZH-A8Y4-01A-11D-A417-09 THRAP3 1 36766611 36766611 + Missense_Mutation SNP G T g.chr1:36766611G>T c.2428G>T p.D810Y TCGA-W5-AA2W-01A-11D-A417-09 THRAP3 1 36759444 36759456 + Splice_Site DEL AATTTTAGGAGAA - g.chr1:36759444_36759456delAATTTTAGGAGAA c.2030_2035delAATTTTAGGAGAA p.F*678fs TCGA-W5-AA39-01A-11D-A417-09 THSD4 15 71952877 71952877 + Silent SNP C T g.chr15:71952877C>T c.1161C>T p.G387G TCGA-ZU-A8S4-01A-11D-A417-09 THSD7A 7 11419301 11419301 + Missense_Mutation SNP A T g.chr7:11419301A>T c.4546T>A p.S1516T TCGA-W5-AA39-01A-11D-A417-09 THSD7B 2 137814609 137814609 + Silent SNP G A g.chr2:137814609G>A c.759G>A p.L253L TCGA-W5-AA2T-01A-12D-A417-09 THSD7B 2 137988805 137988805 + Splice_Site SNP G T g.chr2:137988805G>T c.1915G>T p.G639C TCGA-WD-A7RX-01A-12D-A417-09 THTPA 14 24025980 24025980 + Missense_Mutation SNP T C g.chr14:24025980T>C c.14T>C p.L5S TCGA-W5-AA30-01A-31D-A417-09 TICAM1 19 4816516 4816516 + Missense_Mutation SNP G A g.chr19:4816516G>A c.1874C>T p.P625L TCGA-4G-AAZT-01A-11D-A417-09 TIE1 1 43783044 43783044 + Missense_Mutation SNP G T g.chr1:43783044G>T c.2584G>T p.G862W TCGA-W5-AA2Q-01A-11D-A417-09 TIGD2 4 90035034 90035034 + Missense_Mutation SNP G T g.chr4:90035034G>T c.909G>T p.L303F TCGA-W5-AA2R-01A-11D-A417-09 TIGD3 11 65123582 65123582 + Missense_Mutation SNP G A g.chr11:65123582G>A c.303G>A p.M101I TCGA-W5-AA2Z-01A-11D-A417-09 TIGD4 4 153691681 153691681 + Nonsense_Mutation SNP G T g.chr4:153691681G>T c.476C>A p.S159* TCGA-W5-AA2O-01A-11D-A417-09 TIGIT 3 114014670 114014670 + Missense_Mutation SNP C T g.chr3:114014670C>T c.340C>T p.P114S TCGA-WD-A7RX-01A-12D-A417-09 TIMELESS 12 56822671 56822671 + Missense_Mutation SNP G A g.chr12:56822671G>A c.1300C>T p.R434C TCGA-W5-AA39-01A-11D-A417-09 TIMM23 10 51592574 51592574 + Missense_Mutation SNP A C g.chr10:51592574A>C c.560T>G p.L187R TCGA-W5-AA39-01A-11D-A417-09 TIMP3 22 33254019 33254019 + Missense_Mutation SNP G T g.chr22:33254019G>T c.332G>T p.G111V TCGA-W5-AA34-01A-11D-A417-09 TINF2 14 24710311 24710311 + Silent SNP C T g.chr14:24710311C>T c.519G>A p.V173V TCGA-ZH-A8Y2-01A-11D-A417-09 TJP1 15 30011982 30011982 + Splice_Site SNP T G g.chr15:30011982T>G c.3002A>C p.K1001T TCGA-W5-AA2I-01A-32D-A417-09 TLE1 9 84226713 84226713 + Missense_Mutation SNP C T g.chr9:84226713C>T c.1225G>A p.A409T TCGA-3X-AAVE-01A-11D-A417-09 TLE2 19 3011031 3011031 + Missense_Mutation SNP G A g.chr19:3011031G>A c.1001C>T p.T334M TCGA-W5-AA38-01A-11D-A417-09 TLE4 9 82188691 82188691 + Missense_Mutation SNP C G g.chr9:82188691C>G c.133C>G p.Q45E TCGA-W5-AA39-01A-11D-A417-09 TLK2 17 60598179 60598179 + Missense_Mutation SNP G A g.chr17:60598179G>A c.127G>A p.G43R TCGA-W5-AA2I-01A-32D-A417-09 TLK2 17 60679483 60679483 + Missense_Mutation SNP G T g.chr17:60679483G>T c.1867G>T p.D623Y TCGA-ZH-A8Y4-01A-11D-A417-09 TLL1 4 166999170 166999170 + Missense_Mutation SNP C A g.chr4:166999170C>A c.2430C>A p.H810Q TCGA-ZD-A8I3-01A-11D-A417-09 TLL1 4 166981259 166981259 + Missense_Mutation SNP G T g.chr4:166981259G>T c.1926G>T p.K642N TCGA-ZH-A8Y8-01A-51D-A417-09 TLN1 9 35698454 35698454 + Missense_Mutation SNP C T g.chr9:35698454C>T c.7237G>A p.A2413T TCGA-4G-AAZO-01A-12D-A417-09 TLN2 15 62939540 62939540 + Missense_Mutation SNP C T g.chr15:62939540C>T c.31C>T p.R11C TCGA-W5-AA2Q-01A-11D-A417-09 TLR1 4 38798585 38798585 + Missense_Mutation SNP G T g.chr4:38798585G>T c.1868C>A p.A623D TCGA-W5-AA2H-01A-31D-A417-09 TLR1 4 38798332 38798332 + Missense_Mutation SNP G C g.chr4:38798332G>C c.2121C>G p.C707W TCGA-W5-AA2U-01A-11D-A417-09 TLR3 4 187004484 187004484 + Silent SNP C T g.chr4:187004484C>T c.1644C>T p.H548H TCGA-W5-AA30-01A-31D-A417-09 TLR8 23 12939080 12939080 + Missense_Mutation SNP C A g.chrX:12939080C>A c.1921C>A p.L641M TCGA-4G-AAZO-01A-12D-A417-09 TLR9 3 52255277 52255277 + Missense_Mutation SNP G T g.chr3:52255277G>T c.3055C>A p.H1019N TCGA-3X-AAV9-01A-72D-A417-09 TLR9 3 52255290 52255290 + Silent SNP G A g.chr3:52255290G>A c.3042C>T p.T1014T TCGA-YR-A95A-01A-12D-A417-09 TM4SF18 3 149051002 149051002 + Silent SNP T C g.chr3:149051002T>C c.168A>G p.S56S TCGA-W5-AA39-01A-11D-A417-09 TM4SF4 3 149216522 149216522 + Missense_Mutation SNP G T g.chr3:149216522G>T c.415G>T p.D139Y TCGA-ZH-A8Y6-01A-11D-A417-09 TM4SF5 17 4675353 4675353 + Nonsense_Mutation SNP C T g.chr17:4675353C>T c.136C>T p.Q46* TCGA-ZH-A8Y2-01A-11D-A417-09 TM6SF2 19 19377337 19377337 + Missense_Mutation SNP G A g.chr19:19377337G>A c.886C>T p.P296S TCGA-ZU-A8S4-01A-11D-A417-09 TM9SF3 10 98292847 98292847 + Missense_Mutation SNP C T g.chr10:98292847C>T c.1286G>A p.R429H TCGA-W5-AA30-01A-31D-A417-09 TMC1 9 75387387 75387387 + Missense_Mutation SNP G A g.chr9:75387387G>A c.800G>A p.G267E TCGA-W5-AA2G-01A-11D-A417-09 TMC4 19 54672203 54672203 + Missense_Mutation SNP T A g.chr19:54672203T>A c.664A>T p.T222S TCGA-W5-AA39-01A-11D-A417-09 TMC4 19 54664886 54664886 + Missense_Mutation SNP G C g.chr19:54664886G>C c.1816C>G p.L606V TCGA-YR-A95A-01A-12D-A417-09 TMCC1 3 129370592 129370592 + Missense_Mutation SNP T A g.chr3:129370592T>A c.1694A>T p.Q565L TCGA-3X-AAVC-01A-21D-A417-09 TMCC1 3 129546839 129546839 + Missense_Mutation SNP G T g.chr3:129546839G>T c.383C>A p.P128Q TCGA-W5-AA39-01A-11D-A417-09 TMCO1 1 165728808 165728808 + Silent SNP C T g.chr1:165728808C>T c.162G>A p.K54K TCGA-W5-AA39-01A-11D-A417-09 TMCO6 5 140024571 140024571 + Splice_Site SNP C T g.chr5:140024571C>T c.1370C>T p.A457V TCGA-3X-AAVB-01A-31D-A417-09 TMED2 12 124069354 124069354 + Silent SNP C T g.chr12:124069354C>T c.171C>T p.I57I TCGA-3X-AAV9-01A-72D-A417-09 TMED2 12 124071376 124071376 + Missense_Mutation SNP G T g.chr12:124071376G>T c.263G>T p.G88V TCGA-W5-AA2O-01A-11D-A417-09 TMED8 14 77810058 77810058 + Silent SNP G A g.chr14:77810058G>A c.436C>T p.L146L TCGA-3X-AAV9-01A-72D-A417-09 TMEFF2 2 192815056 192815056 + Missense_Mutation SNP G T g.chr2:192815056G>T c.1106C>A p.A369E TCGA-4G-AAZT-01A-11D-A417-09 TMEM11 17 21101947 21101947 + Missense_Mutation SNP G A g.chr17:21101947G>A c.269C>T p.T90I TCGA-W5-AA2Q-01A-11D-A417-09 TMEM110 3 52876847 52876847 + Missense_Mutation SNP G T g.chr3:52876847G>T c.748C>A p.H250N TCGA-ZH-A8Y2-01A-11D-A417-09 TMEM116 12 112369579 112369579 + Missense_Mutation SNP G A g.chr12:112369579G>A c.584C>T p.T195M TCGA-ZU-A8S4-01A-11D-A417-09 TMEM128 4 4242110 4242110 + Silent SNP A G g.chr4:4242110A>G c.336T>C p.Y112Y TCGA-W5-AA39-01A-11D-A417-09 TMEM132A 11 60696291 60696291 + Missense_Mutation SNP C T g.chr11:60696291C>T c.725C>T p.A242V TCGA-3X-AAVC-01A-21D-A417-09 TMEM132D 12 130184567 130184568 + Missense_Mutation DNP TG CC g.chr12:130184567_130184568TG>CC c.755_756CA>GG p.T252R TCGA-W5-AA2O-01A-11D-A417-09 TMEM132D 12 129566387 129566387 + Missense_Mutation SNP T A g.chr12:129566387T>A c.1840A>T p.M614L TCGA-W5-AA39-01A-11D-A417-09 TMEM132E 17 32955682 32955682 + Missense_Mutation SNP G A g.chr17:32955682G>A c.829G>A p.A277T TCGA-3X-AAVE-01A-11D-A417-09 TMEM146 19 5768201 5768201 + Missense_Mutation SNP G T g.chr19:5768201G>T c.1582G>T p.G528C TCGA-YR-A95A-01A-12D-A417-09 TMEM147 19 36037440 36037440 + Missense_Mutation SNP G T g.chr19:36037440G>T c.160G>T p.A54S TCGA-3X-AAVA-01A-11D-A417-09 TMEM150A 2 85826690 85826690 + Silent SNP G T g.chr2:85826690G>T c.532C>A p.R178R TCGA-W5-AA38-01A-11D-A417-09 TMEM150C 4 83411279 83411279 + Missense_Mutation SNP T C g.chr4:83411279T>C c.476A>G p.E159G TCGA-W5-AA39-01A-11D-A417-09 TMEM177 2 120439254 120439254 + Silent SNP C T g.chr2:120439254C>T c.825C>T p.S275S TCGA-ZD-A8I3-01A-11D-A417-09 TMEM178 2 39944386 39944386 + Missense_Mutation SNP G T g.chr2:39944386G>T c.889G>T p.V297L TCGA-3X-AAV9-01A-72D-A417-09 TMEM184A 7 1587391 1587391 + Silent SNP C T g.chr7:1587391C>T c.999G>A p.K333K TCGA-W5-AA39-01A-11D-A417-09 TMEM184C 4 148539206 148539206 + Silent SNP C T g.chr4:148539206C>T c.99C>T p.C33C TCGA-3X-AAVE-01A-11D-A417-09 TMEM2 9 74300266 74300266 + Silent SNP T C g.chr9:74300266T>C c.3999A>G p.S1333S TCGA-W5-AA2X-01A-11D-A417-09 TMEM200B 1 29447458 29447458 + Missense_Mutation SNP C T g.chr1:29447458C>T c.883G>A p.A295T TCGA-ZH-A8Y4-01A-11D-A417-09 TMEM206 1 212538674 212538674 + Silent SNP G T g.chr1:212538674G>T c.936C>A p.G312G TCGA-4G-AAZT-01A-11D-A417-09 TMEM216 11 61161386 61161386 + Missense_Mutation SNP T C g.chr11:61161386T>C c.167T>C p.L56P TCGA-YR-A95A-01A-12D-A417-09 TMEM38A 19 16790827 16790827 + Missense_Mutation SNP G T g.chr19:16790827G>T c.157G>T p.A53S TCGA-W5-AA39-01A-11D-A417-09 TMEM38B 9 108456998 108456998 + Silent SNP C A g.chr9:108456998C>A c.57C>A p.P19P TCGA-4G-AAZO-01A-12D-A417-09 TMEM39B 1 32560448 32560448 + Missense_Mutation SNP T G g.chr1:32560448T>G c.991T>G p.S331A TCGA-W5-AA39-01A-11D-A417-09 TMEM43 3 14183116 14183116 + Missense_Mutation SNP G T g.chr3:14183116G>T c.1024G>T p.D342Y TCGA-ZH-A8Y2-01A-11D-A417-09 TMEM44 3 194337847 194337847 + Missense_Mutation SNP C T g.chr3:194337847C>T c.905G>A p.R302H TCGA-ZH-A8Y5-01A-11D-A417-09 TMEM55A 8 92033557 92033557 + Missense_Mutation SNP C T g.chr8:92033557C>T c.182G>A p.C61Y TCGA-W5-AA2X-01A-11D-A417-09 TMEM59 1 54512947 54512947 + Silent SNP A G g.chr1:54512947A>G c.288T>C p.C96C TCGA-W5-AA2U-01A-11D-A417-09 TMEM69 1 46159032 46159032 + Missense_Mutation SNP T C g.chr1:46159032T>C c.199T>C p.S67P TCGA-ZH-A8Y8-01A-51D-A417-09 TMEM85 15 34520740 34520740 + Silent SNP C T g.chr15:34520740C>T c.466C>T p.L156L TCGA-W5-AA2G-01A-11D-A417-09 TMEM87A 15 42556290 42556290 + Missense_Mutation SNP G T g.chr15:42556290G>T c.403C>A p.Q135K TCGA-W5-AA2H-01A-31D-A417-09 TMEM87A 15 42519937 42519937 + Missense_Mutation SNP A G g.chr15:42519937A>G c.1271T>C p.M424T TCGA-W5-AA2W-01A-11D-A417-09 TMEM90B 20 24524207 24524207 + Missense_Mutation SNP G C g.chr20:24524207G>C c.474G>C p.E158D TCGA-ZU-A8S4-01A-11D-A417-09 TMIGD1 17 28643709 28643709 + Splice_Site SNP C A g.chr17:28643709C>A TCGA-W5-AA2R-01A-11D-A417-09 TMOD2 15 52060462 52060462 + Missense_Mutation SNP G T g.chr15:52060462G>T c.130G>T p.A44S TCGA-4G-AAZO-01A-12D-A417-09 TMPO 12 98927571 98927571 + Intron SNP G A g.chr12:98927571G>A TCGA-W5-AA2W-01A-11D-A417-09 TMPRSS11A 4 68777188 68777188 + Missense_Mutation SNP G T g.chr4:68777188G>T c.1138C>A p.L380M TCGA-W5-AA2O-01A-11D-A417-09 TMPRSS11B 4 69093790 69093790 + Splice_Site SNP T C g.chr4:69093790T>C c.1090A>G p.N364D TCGA-W5-AA39-01A-11D-A417-09 TMPRSS6 22 37494529 37494529 + Missense_Mutation SNP C T g.chr22:37494529C>T c.290G>A p.R97H TCGA-WD-A7RX-01A-12D-A417-09 TMTC1 12 29786213 29786213 + Missense_Mutation SNP A G g.chr12:29786213A>G c.995T>C p.V332A TCGA-YR-A95A-01A-12D-A417-09 TMTC2 12 83289597 83289597 + Splice_Site SNP A G g.chr12:83289597A>G c.655A>G p.R219G TCGA-W5-AA2Q-01A-11D-A417-09 TMTC4 13 101320946 101320946 + Missense_Mutation SNP G A g.chr13:101320946G>A c.49C>T p.L17F TCGA-W5-AA39-01A-11D-A417-09 TMUB1 7 150778815 150778815 + Missense_Mutation SNP G A g.chr7:150778815G>A c.562C>T p.P188S TCGA-W5-AA2X-01A-11D-A417-09 TNC 9 117797604 117797604 + Missense_Mutation SNP G T g.chr9:117797604G>T c.5666C>A p.S1889Y TCGA-W5-AA39-01A-11D-A417-09 TNFRSF10D 8 23003411 23003411 + Missense_Mutation SNP A G g.chr8:23003411A>G c.506T>C p.V169A TCGA-W5-AA39-01A-11D-A417-09 TNFRSF14 1 2493248 2493248 + Missense_Mutation SNP C T g.chr1:2493248C>T c.688C>T p.P230S TCGA-4G-AAZT-01A-11D-A417-09 TNFRSF21 6 47251781 47251781 + Missense_Mutation SNP T C g.chr6:47251781T>C c.1136A>G p.K379R TCGA-3X-AAVB-01A-31D-A417-09 TNFSF13B 13 108955854 108955854 + Missense_Mutation SNP A G g.chr13:108955854A>G c.647A>G p.K216R TCGA-ZH-A8Y6-01A-11D-A417-09 TNIK 3 170928989 170928989 + Missense_Mutation SNP C A g.chr3:170928989C>A c.222G>T p.K74N TCGA-WD-A7RX-01A-12D-A417-09 TNK2 3 195609127 195609127 + Missense_Mutation SNP T A g.chr3:195609127T>A c.682A>T p.T228S TCGA-W5-AA39-01A-11D-A417-09 TNNI3K 1 74957851 74957851 + Intron SNP A G g.chr1:74957851A>G TCGA-W5-AA2T-01A-12D-A417-09 TNPO2 19 12821525 12821525 + Missense_Mutation SNP G T g.chr19:12821525G>T c.1180C>A p.H394N TCGA-ZH-A8Y6-01A-11D-A417-09 TNRC18 7 5352833 5352833 + Silent SNP G A g.chr7:5352833G>A c.7689C>T p.S2563S TCGA-YR-A95A-01A-12D-A417-09 TNRC6A 16 24826538 24826538 + Silent SNP T G g.chr16:24826538T>G c.4743T>G p.T1581T TCGA-W5-AA39-01A-11D-A417-09 TNS3 7 47384537 47384537 + Missense_Mutation SNP G T g.chr7:47384537G>T c.2551C>A p.P851T TCGA-W5-AA2W-01A-11D-A417-09 TOM1 22 35719501 35719501 + Missense_Mutation SNP G A g.chr22:35719501G>A c.379G>A p.A127T TCGA-ZH-A8Y2-01A-11D-A417-09 TOP2A 17 38560515 38560515 + Silent SNP T C g.chr17:38560515T>C c.2172A>G p.P724P TCGA-W5-AA2U-01A-11D-A417-09 TOP2A 17 38574040 38574040 + Missense_Mutation SNP C T g.chr17:38574040C>T c.4G>A p.E2K TCGA-W5-AA39-01A-11D-A417-09 TOP2B 3 25675377 25675377 + Silent SNP T C g.chr3:25675377T>C c.981A>G p.K327K TCGA-W5-AA2O-01A-11D-A417-09 TOP3B 22 22318376 22318376 + Missense_Mutation SNP T G g.chr22:22318376T>G c.1123A>C p.I375L TCGA-W5-AA39-01A-11D-A417-09 TOPBP1 3 133337058 133337058 + Splice_Site SNP C A g.chr3:133337058C>A c.3591G>T p.Q1197H TCGA-4G-AAZO-01A-12D-A417-09 TOX3 16 52473515 52473515 + Silent SNP C T g.chr16:52473515C>T c.1353G>A p.Q451Q TCGA-3X-AAV9-01A-72D-A417-09 TP53 17 7577539 7577539 + Missense_Mutation SNP G A g.chr17:7577539G>A c.742C>T p.R248W TCGA-3X-AAVB-01A-31D-A417-09 TP53 17 7577559 7577559 + Missense_Mutation SNP G A g.chr17:7577559G>A c.722C>T p.S241F TCGA-3X-AAVC-01A-21D-A417-09 TP53 17 7578509 7578509 + Missense_Mutation SNP A G g.chr17:7578509A>G c.421T>C p.C141R TCGA-W5-AA2I-01A-32D-A417-09 TP53 17 7577554 7577573 + Frame_Shift_Del DEL TGCAGGAACTGTTACACATG - g.chr17:7577554_7577573delTGCAGGAACTGTTACACATG c.708_727delCATGTGTAACAGTTCCTGCA p.MCNSSCM237fs TCGA-W5-AA2O-01A-11D-A417-09 TP53 17 7577579 7577580 + Frame_Shift_Ins INS - T g.chr17:7577579_7577580insT c.701_702insA p.Y234fs TCGA-W5-AA2O-01A-11D-A417-09 TP53 17 7579316 7579316 + Missense_Mutation SNP C T g.chr17:7579316C>T c.371G>A p.C124Y TCGA-ZH-A8Y5-01A-11D-A417-09 TP53BP1 15 43708493 43708493 + Silent SNP C A g.chr15:43708493C>A c.4788G>T p.L1596L TCGA-W5-AA2Q-01A-11D-A417-09 TP53BP1 15 43714161 43714161 + Missense_Mutation SNP C T g.chr15:43714161C>T c.3977G>A p.S1326N TCGA-W5-AA2R-01A-11D-A417-09 TP53BP1 15 43766909 43766910 + Frame_Shift_Ins INS - T g.chr15:43766909_43766910insT c.1126_1127insA p.I376fs TCGA-ZH-A8Y8-01A-51D-A417-09 TPCN1 12 113664590 113664590 + 5'UTR SNP G A g.chr12:113664590G>A TCGA-W5-AA39-01A-11D-A417-09 TPD52L1 6 125584047 125584047 + Missense_Mutation SNP C T g.chr6:125584047C>T c.554C>T p.A185V TCGA-ZH-A8Y4-01A-11D-A417-09 TPM3 1 154144580 154144580 + Intron SNP G A g.chr1:154144580G>A TCGA-ZH-A8Y8-01A-51D-A417-09 TPP1 11 6638859 6638859 + Silent SNP G T g.chr11:6638859G>T c.378C>A p.I126I TCGA-W5-AA33-01A-11D-A417-09 TPP1 11 6637270 6637270 + Silent SNP T G g.chr11:6637270T>G c.1111A>C p.R371R TCGA-W5-AA39-01A-11D-A417-09 TPR 1 186304588 186304588 + Missense_Mutation SNP C T g.chr1:186304588C>T c.4793G>A p.R1598H TCGA-W5-AA31-01A-11D-A417-09 TPR 1 186312595 186312595 + Nonsense_Mutation SNP G A g.chr1:186312595G>A c.3613C>T p.R1205* TCGA-W5-AA38-01A-11D-A417-09 TPRN 9 140093584 140093584 + Missense_Mutation SNP C A g.chr9:140093584C>A c.1580G>T p.R527L TCGA-W5-AA31-01A-11D-A417-09 TPTE 21 10916473 10916473 + Missense_Mutation SNP C A g.chr21:10916473C>A c.1173G>T p.K391N TCGA-W5-AA2H-01A-31D-A417-09 TPTE 21 10941922 10941922 + Nonsense_Mutation SNP T A g.chr21:10941922T>A c.781A>T p.R261* TCGA-W5-AA2T-01A-12D-A417-09 TPTE2 13 20056679 20056679 + Missense_Mutation SNP T G g.chr13:20056679T>G c.128A>C p.E43A TCGA-ZH-A8Y6-01A-11D-A417-09 TRAF3IP1 2 239242655 239242655 + Nonsense_Mutation SNP C T g.chr2:239242655C>T c.1042C>T p.R348* TCGA-4G-AAZT-01A-11D-A417-09 TRAF3IP2 6 111912799 111912799 + Frame_Shift_Del DEL G - g.chr6:111912799delG c.518delC p.P173fs TCGA-W5-AA2Q-01A-11D-A417-09 TRAF4 17 27076180 27076180 + Missense_Mutation SNP T G g.chr17:27076180T>G c.998T>G p.F333C TCGA-W5-AA2I-01A-32D-A417-09 TRAF4 17 27075650 27075650 + Missense_Mutation SNP T C g.chr17:27075650T>C c.746T>C p.L249P TCGA-W5-AA2O-01A-11D-A417-09 TRAF4 17 27071215 27071215 + Missense_Mutation SNP G A g.chr17:27071215G>A c.85G>A p.V29M TCGA-W6-AA0S-01A-11D-A417-09 TRAF5 1 211533365 211533365 + Nonsense_Mutation SNP C T g.chr1:211533365C>T c.490C>T p.R164* TCGA-W5-AA2H-01A-31D-A417-09 TRAFD1 12 112583461 112583461 + Missense_Mutation SNP C T g.chr12:112583461C>T c.922C>T p.H308Y TCGA-ZH-A8Y1-01A-11D-A417-09 TRAK1 3 42260987 42260987 + Splice_Site SNP G A g.chr3:42260987G>A c.1965G>A p.A655A TCGA-3X-AAVE-01A-11D-A417-09 TRAM1 8 71495450 71495450 + Missense_Mutation SNP C A g.chr8:71495450C>A c.1000G>T p.V334L TCGA-W5-AA39-01A-11D-A417-09 TRANK1 3 36896814 36896814 + Missense_Mutation SNP C A g.chr3:36896814C>A c.4267G>T p.A1423S TCGA-W5-AA2Q-01A-11D-A417-09 TRAP1 16 3729751 3729751 + Missense_Mutation SNP T C g.chr16:3729751T>C c.512A>G p.N171S TCGA-W5-AA2I-01A-32D-A417-09 TRAPPC9 8 141415702 141415702 + Nonsense_Mutation SNP T A g.chr8:141415702T>A c.982A>T p.K328* TCGA-W5-AA39-01A-11D-A417-09 TRERF1 6 42196196 42196196 + Missense_Mutation SNP C T g.chr6:42196196C>T c.3490G>A p.D1164N TCGA-W5-AA30-01A-31D-A417-09 TRHDE 12 73015434 73015434 + Missense_Mutation SNP A G g.chr12:73015434A>G c.2443A>G p.R815G TCGA-3X-AAV9-01A-72D-A417-09 TRHR 8 110131447 110131447 + Nonsense_Mutation SNP C A g.chr8:110131447C>A c.960C>A p.Y320* TCGA-W5-AA31-01A-11D-A417-09 TRIB1 8 126445609 126445609 + Silent SNP G T g.chr8:126445609G>T c.411G>T p.L137L TCGA-W5-AA2R-01A-11D-A417-09 TRIM17 1 228602548 228602548 + Missense_Mutation SNP G A g.chr1:228602548G>A c.226C>T p.P76S TCGA-WD-A7RX-01A-12D-A417-09 TRIM2 4 154237032 154237032 + Missense_Mutation SNP C T g.chr4:154237032C>T c.1582C>T p.R528C TCGA-3X-AAVC-01A-21D-A417-09 TRIM29 11 120008077 120008077 + Missense_Mutation SNP C A g.chr11:120008077C>A c.663G>T p.E221D TCGA-ZH-A8Y8-01A-51D-A417-09 TRIM32 9 119461766 119461766 + Missense_Mutation SNP G T g.chr9:119461766G>T c.1745G>T p.C582F TCGA-4G-AAZO-01A-12D-A417-09 TRIM33 1 114952824 114952824 + Missense_Mutation SNP G T g.chr1:114952824G>T c.2176C>A p.L726I TCGA-W5-AA38-01A-11D-A417-09 TRIM36 5 114506912 114506912 + Intron SNP T C g.chr5:114506912T>C TCGA-4G-AAZT-01A-11D-A417-09 TRIM36 5 114483090 114483090 + Splice_Site SNP G T g.chr5:114483090G>T c.300C>A p.G100G TCGA-W5-AA2R-01A-11D-A417-09 TRIM39 6 30297399 30297399 + Missense_Mutation SNP G T g.chr6:30297399G>T c.305G>T p.R102L TCGA-W5-AA2G-01A-11D-A417-09 TRIM39 6 30303613 30303613 + Missense_Mutation SNP G A g.chr6:30303613G>A c.641G>A p.R214Q TCGA-ZH-A8Y2-01A-11D-A417-09 TRIM40 6 30113806 30113806 + Missense_Mutation SNP G T g.chr6:30113806G>T c.381G>T p.K127N TCGA-W5-AA2W-01A-11D-A417-09 TRIM42 3 140407354 140407354 + Silent SNP C T g.chr3:140407354C>T c.1830C>T p.Y610Y TCGA-ZH-A8Y1-01A-11D-A417-09 TRIM5 11 5686556 5686556 + Missense_Mutation SNP G T g.chr11:5686556G>T c.965C>A p.S322Y TCGA-ZH-A8Y8-01A-51D-A417-09 TRIM55 8 67039583 67039583 + Missense_Mutation SNP C T g.chr8:67039583C>T c.80C>T p.P27L TCGA-W5-AA2T-01A-12D-A417-09 TRIM55 8 67049405 67049405 + Missense_Mutation SNP G T g.chr8:67049405G>T c.583G>T p.D195Y TCGA-W5-AA39-01A-11D-A417-09 TRIM56 7 100732027 100732027 + Silent SNP G T g.chr7:100732027G>T c.1434G>T p.L478L TCGA-ZD-A8I3-01A-11D-A417-09 TRIM67 1 231299471 231299473 + In_Frame_Del DEL GCC - g.chr1:231299471_231299473delGCC c.756_758delGCC p.P260del TCGA-3X-AAVA-01A-11D-A417-09 TRIM69 15 45059569 45059569 + Silent SNP C T g.chr15:45059569C>T c.1102C>T p.L368L TCGA-W5-AA2R-01A-11D-A417-09 TRIM9 14 51492033 51492033 + Nonsense_Mutation SNP C A g.chr14:51492033C>A c.868G>T p.E290* TCGA-3X-AAVC-01A-21D-A417-09 TRIO 5 14399006 14399006 + Nonsense_Mutation SNP G T g.chr5:14399006G>T c.4441G>T p.E1481* TCGA-3X-AAV9-01A-72D-A417-09 TRIOBP 22 38121037 38121037 + Missense_Mutation SNP G T g.chr22:38121037G>T c.2474G>T p.R825I TCGA-W5-AA2W-01A-11D-A417-09 TRIOBP 22 38120876 38120876 + Silent SNP C A g.chr22:38120876C>A c.2313C>A p.S771S TCGA-W5-AA31-01A-11D-A417-09 TRIP11 14 92474186 92474186 + Missense_Mutation SNP T C g.chr14:92474186T>C c.1325A>G p.Q442R TCGA-W5-AA2Q-01A-11D-A417-09 TRIP11 14 92470476 92470476 + Nonsense_Mutation SNP T A g.chr14:92470476T>A c.3844A>T p.K1282* TCGA-W5-AA2X-01A-11D-A417-09 TRIP11 14 92469882 92469882 + Missense_Mutation SNP G T g.chr14:92469882G>T c.4438C>A p.Q1480K TCGA-ZH-A8Y1-01A-11D-A417-09 TRIP12 2 230672523 230672523 + Missense_Mutation SNP C G g.chr2:230672523C>G c.2253G>C p.K751N TCGA-W5-AA2I-01A-32D-A417-09 TRIP13 5 908545 908545 + Missense_Mutation SNP G A g.chr5:908545G>A c.835G>A p.A279T TCGA-W5-AA2I-01A-32D-A417-09 TRMT12 8 125464268 125464268 + Missense_Mutation SNP C T g.chr8:125464268C>T c.1100C>T p.T367I TCGA-W5-AA2U-01A-11D-A417-09 TRMT5 14 61446086 61446086 + 5'Flank SNP T C g.chr14:61446086T>C TCGA-4G-AAZO-01A-12D-A417-09 TRO 23 54950954 54950954 + Missense_Mutation SNP C T g.chrX:54950954C>T c.1307C>T p.A436V TCGA-W5-AA2X-01A-11D-A417-09 TRPC4 13 38357312 38357312 + Missense_Mutation SNP C G g.chr13:38357312C>G c.159G>C p.E53D TCGA-ZU-A8S4-01A-11D-A417-09 TRPC4AP 20 33632325 33632325 + Missense_Mutation SNP G A g.chr20:33632325G>A c.848C>T p.A283V TCGA-ZH-A8Y8-01A-51D-A417-09 TRPC5 23 111155896 111155896 + Missense_Mutation SNP G T g.chrX:111155896G>T c.523C>A p.R175S TCGA-4G-AAZO-01A-12D-A417-09 TRPC5 23 111155791 111155791 + Missense_Mutation SNP C A g.chrX:111155791C>A c.628G>T p.A210S TCGA-W5-AA34-01A-11D-A417-09 TRPC6 11 101343020 101343020 + Missense_Mutation SNP G T g.chr11:101343020G>T c.2053C>A p.L685I TCGA-W5-AA2I-01A-32D-A417-09 TRPC7 5 135561813 135561813 + Missense_Mutation SNP C A g.chr5:135561813C>A c.2171G>T p.R724I TCGA-W5-AA38-01A-11D-A417-09 TRPM1 15 31355481 31355481 + Missense_Mutation SNP C T g.chr15:31355481C>T c.805G>A p.V269M TCGA-3X-AAVB-01A-31D-A417-09 TRPM5 11 2443523 2443523 + Missense_Mutation SNP G T g.chr11:2443523G>T c.146C>A p.P49Q TCGA-ZH-A8Y8-01A-51D-A417-09 TRPM6 9 77470478 77470478 + Nonsense_Mutation SNP A T g.chr9:77470478A>T c.117T>A p.C39* TCGA-W5-AA2Q-01A-11D-A417-09 TRPM8 2 234869591 234869591 + Missense_Mutation SNP G T g.chr2:234869591G>T c.1534G>T p.A512S TCGA-ZH-A8Y1-01A-11D-A417-09 TRPS1 8 116631413 116631413 + Silent SNP C T g.chr8:116631413C>T c.873G>A p.L291L TCGA-W5-AA2R-01A-11D-A417-09 TRPT1 11 63991664 63991664 + Missense_Mutation SNP C T g.chr11:63991664C>T c.578G>A p.R193H TCGA-W5-AA38-01A-11D-A417-09 TRPV4 12 110252313 110252313 + Missense_Mutation SNP G A g.chr12:110252313G>A c.289C>T p.P97S TCGA-W5-AA2R-01A-11D-A417-09 TRUB1 10 116734973 116734973 + Nonsense_Mutation SNP G A g.chr10:116734973G>A c.885G>A p.W295* TCGA-3X-AAV9-01A-72D-A417-09 TRUB1 10 116702491 116702491 + Missense_Mutation SNP G T g.chr10:116702491G>T c.374G>T p.R125L TCGA-W5-AA33-01A-11D-A417-09 TRYX3 7 141954901 141954901 + Missense_Mutation SNP G T g.chr7:141954901G>T c.410C>A p.T137N TCGA-4G-AAZT-01A-11D-A417-09 TSC1 9 135786449 135786449 + Missense_Mutation SNP A C g.chr9:135786449A>C c.1081T>G p.S361A TCGA-ZH-A8Y5-01A-11D-A417-09 TSC2 16 2100432 2100432 + Missense_Mutation SNP G A g.chr16:2100432G>A c.170G>A p.R57H TCGA-W5-AA2G-01A-11D-A417-09 TSC2 16 2126499 2126499 + Missense_Mutation SNP G T g.chr16:2126499G>T c.2750G>T p.R917L TCGA-W5-AA31-01A-11D-A417-09 TSC22D2 3 150176395 150176395 + Missense_Mutation SNP C A g.chr3:150176395C>A c.2315C>A p.P772Q TCGA-W5-AA2G-01A-11D-A417-09 TSG101 11 18536390 18536390 + Splice_Site SNP T A g.chr11:18536390T>A TCGA-4G-AAZT-01A-11D-A417-09 TSGA10 2 99636892 99636892 + Missense_Mutation SNP C A g.chr2:99636892C>A c.1668G>T p.Q556H TCGA-3X-AAVC-01A-21D-A417-09 TSHZ2 20 51872335 51872335 + Missense_Mutation SNP G T g.chr20:51872335G>T c.2338G>T p.A780S TCGA-W5-AA33-01A-11D-A417-09 TSNARE1 8 143425475 143425475 + Silent SNP C A g.chr8:143425475C>A c.597G>T p.L199L TCGA-4G-AAZO-01A-12D-A417-09 TSNARE1 8 143436077 143436077 + Nonsense_Mutation SNP G T g.chr8:143436077G>T c.9C>A p.Y3* TCGA-W5-AA2O-01A-11D-A417-09 TSNARE1 8 143396383 143396383 + Missense_Mutation SNP C A g.chr8:143396383C>A c.1055G>T p.C352F TCGA-ZD-A8I3-01A-11D-A417-09 TSPAN12 7 120496757 120496757 + Missense_Mutation SNP A C g.chr7:120496757A>C c.61T>G p.F21V TCGA-W5-AA39-01A-11D-A417-09 TSPAN16 19 11408920 11408920 + Missense_Mutation SNP G T g.chr19:11408920G>T c.172G>T p.G58C TCGA-3X-AAV9-01A-72D-A417-09 TSPAN18 11 44941490 44941490 + Silent SNP C T g.chr11:44941490C>T c.555C>T p.D185D TCGA-3X-AAVC-01A-21D-A417-09 TSSC4 11 2424013 2424013 + Silent SNP C T g.chr11:2424013C>T c.150C>T p.S50S TCGA-W5-AA2G-01A-11D-A417-09 TTBK1 6 43222295 43222295 + Missense_Mutation SNP C T g.chr6:43222295C>T c.482C>T p.A161V TCGA-W5-AA38-01A-11D-A417-09 TTC12 11 113230696 113230696 + Missense_Mutation SNP C A g.chr11:113230696C>A c.1580C>A p.S527Y TCGA-W5-AA39-01A-11D-A417-09 TTC14 3 180320910 180320910 + Splice_Site SNP A T g.chr3:180320910A>T TCGA-4G-AAZT-01A-11D-A417-09 TTC17 11 43465625 43465625 + Missense_Mutation SNP G A g.chr11:43465625G>A c.2531G>A p.R844H TCGA-ZH-A8Y4-01A-11D-A417-09 TTC21A 3 39154059 39154059 + Silent SNP G T g.chr3:39154059G>T c.546G>T p.G182G TCGA-3X-AAVC-01A-21D-A417-09 TTC26 7 138819535 138819535 + Missense_Mutation SNP G T g.chr7:138819535G>T c.138G>T p.L46F TCGA-WD-A7RX-01A-12D-A417-09 TTC27 2 32891802 32891802 + Silent SNP T C g.chr2:32891802T>C c.906T>C p.T302T TCGA-W5-AA31-01A-11D-A417-09 TTC3 21 38460547 38460547 + Missense_Mutation SNP A G g.chr21:38460547A>G c.239A>G p.D80G TCGA-W5-AA38-01A-11D-A417-09 TTC35 8 109482343 109482343 + Nonsense_Mutation SNP G T g.chr8:109482343G>T c.502G>T p.E168* TCGA-ZH-A8Y8-01A-51D-A417-09 TTC37 5 94852864 94852864 + Silent SNP G T g.chr5:94852864G>T c.2277C>A p.L759L TCGA-W5-AA2Z-01A-11D-A417-09 TTC39A 1 51777814 51777814 + Missense_Mutation SNP G T g.chr1:51777814G>T c.335C>A p.P112H TCGA-W5-AA34-01A-11D-A417-09 TTC39A 1 51754561 51754561 + Silent SNP A G g.chr1:51754561A>G c.1668T>C p.L556L TCGA-W5-AA39-01A-11D-A417-09 TTC39B 9 15307282 15307282 + Missense_Mutation SNP T G g.chr9:15307282T>G c.40A>C p.N14H TCGA-W5-AA39-01A-11D-A417-09 TTC39C 18 21694602 21694602 + Missense_Mutation SNP T A g.chr18:21694602T>A c.1069T>A p.Y357N TCGA-W5-AA39-01A-11D-A417-09 TTC8 14 89338781 89338781 + Missense_Mutation SNP G T g.chr14:89338781G>T c.1302G>T p.K434N TCGA-3X-AAVB-01A-31D-A417-09 TTC9B 19 40722126 40722126 + Missense_Mutation SNP T C g.chr19:40722126T>C c.664A>G p.S222G TCGA-4G-AAZT-01A-11D-A417-09 TTF1 9 135277219 135277219 + Missense_Mutation SNP G T g.chr9:135277219G>T c.990C>A p.N330K TCGA-3X-AAV9-01A-72D-A417-09 TTL 2 113258837 113258837 + Missense_Mutation SNP A C g.chr2:113258837A>C c.524A>C p.N175T TCGA-W5-AA39-01A-11D-A417-09 TTLL4 2 219603258 219603258 + Missense_Mutation SNP T G g.chr2:219603258T>G c.859T>G p.L287V TCGA-W5-AA39-01A-11D-A417-09 TTLL6 17 46868791 46868791 + Silent SNP G T g.chr17:46868791G>T c.1173C>A p.I391I TCGA-W5-AA34-01A-11D-A417-09 TTLL6 17 46862554 46862554 + Missense_Mutation SNP G T g.chr17:46862554G>T c.1771C>A p.P591T TCGA-ZH-A8Y4-01A-11D-A417-09 TTLL9 20 30486300 30486300 + Missense_Mutation SNP C G g.chr20:30486300C>G c.138C>G p.F46L TCGA-W5-AA39-01A-11D-A417-09 TTN 2 179569097 179569097 + Silent SNP C T g.chr2:179569097C>T c.29049G>A p.L9683L TCGA-3X-AAVE-01A-11D-A417-09 TTN 2 179650369 179650369 + Missense_Mutation SNP G T g.chr2:179650369G>T c.2471C>A p.P824H TCGA-W5-AA2O-01A-11D-A417-09 TTN 2 179447086 179447086 + Nonsense_Mutation SNP C A g.chr2:179447086C>A c.61174G>T p.E20392* TCGA-W5-AA2Q-01A-11D-A417-09 TTN 2 179655547 179655547 + Missense_Mutation SNP G T g.chr2:179655547G>T c.1688C>A p.A563D TCGA-W5-AA2Q-01A-11D-A417-09 TTN 2 179452261 179452261 + Missense_Mutation SNP C T g.chr2:179452261C>T c.58852G>A p.V19618I TCGA-W5-AA2W-01A-11D-A417-09 TTN 2 179434990 179434990 + Missense_Mutation SNP G T g.chr2:179434990G>T c.70946C>A p.P23649H TCGA-W5-AA2X-01A-11D-A417-09 TTN 2 179611465 179611465 + Intron SNP G T g.chr2:179611465G>T TCGA-W5-AA2X-01A-11D-A417-09 TTN 2 179411745 179411745 + Missense_Mutation SNP C T g.chr2:179411745C>T c.89584G>A p.A29862T TCGA-W5-AA30-01A-31D-A417-09 TTN 2 179615544 179615544 + Intron SNP C T g.chr2:179615544C>T TCGA-W5-AA30-01A-31D-A417-09 TTN 2 179453444 179453444 + Missense_Mutation SNP T C g.chr2:179453444T>C c.58085A>G p.K19362R TCGA-W5-AA34-01A-11D-A417-09 TTN 2 179437209 179437209 + Missense_Mutation SNP T A g.chr2:179437209T>A c.68727A>T p.K22909N TCGA-ZH-A8Y2-01A-11D-A417-09 TTN 2 179454980 179454980 + Missense_Mutation SNP C T g.chr2:179454980C>T c.56549G>A p.G18850D TCGA-ZU-A8S4-01A-11D-A417-09 TTR 18 29172884 29172884 + Missense_Mutation SNP T G g.chr18:29172884T>G c.95T>G p.L32R TCGA-W5-AA39-01A-11D-A417-09 TUBA3C 13 19751499 19751499 + Silent SNP G T g.chr13:19751499G>T c.624C>A p.A208A TCGA-W5-AA38-01A-11D-A417-09 TUBA3D 2 132236997 132236997 + Missense_Mutation SNP G T g.chr2:132236997G>T c.343G>T p.V115F TCGA-W5-AA38-01A-11D-A417-09 TUBB 6 30691487 30691487 + Silent SNP G A g.chr6:30691487G>A c.648G>A p.K216K TCGA-ZU-A8S4-01A-11D-A417-09 TUBB1 20 57594614 57594614 + Missense_Mutation SNP G A g.chr20:57594614G>A c.37G>A p.G13S TCGA-3X-AAV9-01A-72D-A417-09 TUBB2A 6 3155891 3155891 + Missense_Mutation SNP C T g.chr6:3155891C>T c.245G>A p.G82D TCGA-W5-AA2X-01A-11D-A417-09 TUBB4 19 6495789 6495789 + Missense_Mutation SNP G A g.chr19:6495789G>A c.721C>T p.R241C TCGA-3X-AAVC-01A-21D-A417-09 TUBD1 17 57944110 57944110 + Splice_Site SNP C A g.chr17:57944110C>A c.935G>T p.G312V TCGA-3X-AAVA-01A-11D-A417-09 TUBGCP2 10 135107110 135107110 + Silent SNP C T g.chr10:135107110C>T c.780G>A p.V260V TCGA-ZD-A8I3-01A-11D-A417-09 TUBGCP3 13 113200144 113200144 + Missense_Mutation SNP C T g.chr13:113200144C>T c.1204G>A p.A402T TCGA-3X-AAVB-01A-31D-A417-09 TUFT1 1 151553512 151553512 + Missense_Mutation SNP C T g.chr1:151553512C>T c.1103C>T p.P368L TCGA-W5-AA2G-01A-11D-A417-09 TULP1 6 35479510 35479510 + Silent SNP G A g.chr6:35479510G>A c.264C>T p.Y88Y TCGA-ZD-A8I3-01A-11D-A417-09 TULP4 6 158924680 158924680 + Missense_Mutation SNP C T g.chr6:158924680C>T c.3985C>T p.R1329W TCGA-ZH-A8Y2-01A-11D-A417-09 TUSC3 8 15531281 15531281 + Missense_Mutation SNP G A g.chr8:15531281G>A c.734G>A p.G245D TCGA-WD-A7RX-01A-12D-A417-09 TXK 4 48096207 48096207 + Missense_Mutation SNP G A g.chr4:48096207G>A c.596C>T p.A199V TCGA-WD-A7RX-01A-12D-A417-09 TXNDC11 16 11785750 11785750 + Nonsense_Mutation SNP C T g.chr16:11785750C>T c.1377G>A p.W459* TCGA-YR-A95A-01A-12D-A417-09 TXNDC16 14 52922163 52922163 + Missense_Mutation SNP G T g.chr14:52922163G>T c.1721C>A p.A574E TCGA-ZH-A8Y5-01A-11D-A417-09 TXNDC16 14 52978009 52978009 + Silent SNP C T g.chr14:52978009C>T c.705G>A p.L235L TCGA-ZH-A8Y6-01A-11D-A417-09 TXNRD2 22 19865952 19865952 + Silent SNP G A g.chr22:19865952G>A c.1284C>T p.H428H TCGA-3X-AAV9-01A-72D-A417-09 TYK2 19 10463198 10463198 + Missense_Mutation SNP T G g.chr19:10463198T>G c.3230A>C p.K1077T TCGA-W5-AA39-01A-11D-A417-09 TYK2 19 10468512 10468519 + Frame_Shift_Del DEL CCACTTGT - g.chr19:10468512_10468519delCCACTTGT c.2387_2394delACAAGTGG p.DKW796fs TCGA-ZH-A8Y4-01A-11D-A417-09 TYMP 22 50967621 50967621 + Missense_Mutation SNP C T g.chr22:50967621C>T c.361G>A p.V121M TCGA-W5-AA39-01A-11D-A417-09 TYR 11 89017970 89017970 + Missense_Mutation SNP G A g.chr11:89017970G>A c.1214G>A p.R405H TCGA-ZH-A8Y8-01A-51D-A417-09 TYRO3 15 41862869 41862869 + Missense_Mutation SNP G C g.chr15:41862869G>C c.1551G>C p.Q517H TCGA-WD-A7RX-01A-12D-A417-09 TYRP1 9 12708981 12708981 + Silent SNP G T g.chr9:12708981G>T c.1413G>T p.R471R TCGA-W5-AA39-01A-11D-A417-09 TYW1B 7 72093929 72093929 + RNA SNP C T g.chr7:72093929C>T TCGA-3X-AAVC-01A-21D-A417-09 U2AF1L4 19 36233568 36233568 + 3'UTR SNP C T g.chr19:36233568C>T TCGA-ZH-A8Y5-01A-11D-A417-09 UBAC1 9 138836946 138836946 + Missense_Mutation SNP C A g.chr9:138836946C>A c.804G>T p.E268D TCGA-W5-AA2O-01A-11D-A417-09 UBAP2 9 33927945 33927945 + Missense_Mutation SNP A C g.chr9:33927945A>C c.2221T>G p.F741V TCGA-W5-AA39-01A-11D-A417-09 UBAP2 9 33989030 33989030 + Nonsense_Mutation SNP G T g.chr9:33989030G>T c.383C>A p.S128* TCGA-ZU-A8S4-01A-11D-A417-09 UBASH3A 21 43857670 43857670 + Missense_Mutation SNP C T g.chr21:43857670C>T c.1466C>T p.T489M TCGA-W5-AA2T-01A-12D-A417-09 UBE2CBP 6 83667047 83667047 + Missense_Mutation SNP C T g.chr6:83667047C>T c.1133G>A p.R378H TCGA-W5-AA39-01A-11D-A417-09 UBE2F 2 238934042 238934042 + Silent SNP A G g.chr2:238934042A>G c.342A>G p.E114E TCGA-W5-AA39-01A-11D-A417-09 UBE2L6 11 57322034 57322034 + Silent SNP C T g.chr11:57322034C>T c.186G>A p.P62P TCGA-3X-AAVC-01A-21D-A417-09 UBE2Q2 15 76183298 76183298 + Missense_Mutation SNP G A g.chr15:76183298G>A c.972G>A p.M324I TCGA-3X-AAVE-01A-11D-A417-09 UBE3A 15 25599825 25599825 + Frame_Shift_Del DEL A - g.chr15:25599825delA c.2139delT p.F713fs TCGA-W5-AA38-01A-11D-A417-09 UBE3B 12 109927743 109927743 + Silent SNP G T g.chr12:109927743G>T c.564G>T p.A188A TCGA-4G-AAZT-01A-11D-A417-09 UBE4A 11 118263498 118263498 + Missense_Mutation SNP G T g.chr11:118263498G>T c.2983G>T p.A995S TCGA-4G-AAZO-01A-12D-A417-09 UBE4B 1 10205034 10205034 + Nonsense_Mutation SNP G A g.chr1:10205034G>A c.2013G>A p.W671* TCGA-W5-AA2U-01A-11D-A417-09 UBE4B 1 10192481 10192481 + Missense_Mutation SNP G T g.chr1:10192481G>T c.1579G>T p.A527S TCGA-ZH-A8Y1-01A-11D-A417-09 UBFD1 16 23578342 23578342 + Missense_Mutation SNP A C g.chr16:23578342A>C c.771A>C p.K257N TCGA-W5-AA39-01A-11D-A417-09 UBN1 16 4920542 4920542 + Missense_Mutation SNP A G g.chr16:4920542A>G c.1337A>G p.Q446R TCGA-W5-AA39-01A-11D-A417-09 UBN2 7 138978118 138978118 + Silent SNP C G g.chr7:138978118C>G c.3810C>G p.P1270P TCGA-W5-AA2I-01A-32D-A417-09 UBN2 7 138968747 138968747 + Silent SNP G A g.chr7:138968747G>A c.3096G>A p.S1032S TCGA-W5-AA39-01A-11D-A417-09 UBOX5 20 3102954 3102954 + Missense_Mutation SNP C T g.chr20:3102954C>T c.331G>A p.D111N TCGA-W5-AA2X-01A-11D-A417-09 UBQLN1 9 86297904 86297904 + Missense_Mutation SNP G T g.chr9:86297904G>T c.410C>A p.S137Y TCGA-ZD-A8I3-01A-11D-A417-09 UBQLNL 11 5537616 5537616 + Missense_Mutation SNP C T g.chr11:5537616C>T c.56G>A p.G19D TCGA-W5-AA2Q-01A-11D-A417-09 UBR1 15 43244513 43244513 + Missense_Mutation SNP C T g.chr15:43244513C>T c.4969G>A p.A1657T TCGA-W5-AA2I-01A-32D-A417-09 UBR1 15 43322177 43322177 + Missense_Mutation SNP G A g.chr15:43322177G>A c.2344C>T p.P782S TCGA-W5-AA2R-01A-11D-A417-09 UBR1 15 43281074 43281074 + Missense_Mutation SNP C A g.chr15:43281074C>A c.3940G>T p.D1314Y TCGA-W5-AA2U-01A-11D-A417-09 UBR2 6 42600594 42600594 + Missense_Mutation SNP G T g.chr6:42600594G>T c.1497G>T p.K499N TCGA-W5-AA2Q-01A-11D-A417-09 UBR2 6 42644579 42644579 + Silent SNP T G g.chr6:42644579T>G c.4446T>G p.A1482A TCGA-W5-AA39-01A-11D-A417-09 UBR3 2 170780438 170780438 + Splice_Site SNP G T g.chr2:170780438G>T TCGA-3X-AAVE-01A-11D-A417-09 UBR3 2 170734063 170734063 + Missense_Mutation SNP A G g.chr2:170734063A>G c.904A>G p.S302G TCGA-W5-AA39-01A-11D-A417-09 UBR5 8 103299709 103299709 + Missense_Mutation SNP T C g.chr8:103299709T>C c.4909A>G p.S1637G TCGA-W5-AA39-01A-11D-A417-09 UBR5 8 103299714 103299714 + Missense_Mutation SNP T G g.chr8:103299714T>G c.4904A>C p.N1635T TCGA-W5-AA39-01A-11D-A417-09 UBTF 17 42294007 42294007 + Missense_Mutation SNP C A g.chr17:42294007C>A c.124G>T p.D42Y TCGA-W5-AA2G-01A-11D-A417-09 UBTF 17 42293340 42293340 + Silent SNP T G g.chr17:42293340T>G c.252A>C p.T84T TCGA-W5-AA2U-01A-11D-A417-09 UBXN4 2 136513166 136513166 + Missense_Mutation SNP T G g.chr2:136513166T>G c.413T>G p.F138C TCGA-W5-AA39-01A-11D-A417-09 UCKL1 20 62577877 62577877 + Missense_Mutation SNP G A g.chr20:62577877G>A c.233C>T p.T78I TCGA-W5-AA2I-01A-32D-A417-09 UFC1 1 161123896 161123896 + Nonsense_Mutation SNP C T g.chr1:161123896C>T c.109C>T p.Q37* TCGA-ZH-A8Y6-01A-11D-A417-09 UFD1L 22 19455397 19455397 + Splice_Site SNP C T g.chr22:19455397C>T c.421G>A p.V141I TCGA-ZH-A8Y1-01A-11D-A417-09 UGGT1 2 128884954 128884954 + Missense_Mutation SNP G T g.chr2:128884954G>T c.1154G>T p.G385V TCGA-ZH-A8Y6-01A-11D-A417-09 UGGT1 2 128861520 128861520 + Missense_Mutation SNP A C g.chr2:128861520A>C c.209A>C p.E70A TCGA-ZU-A8S4-01A-11D-A417-09 UGT1A9 2 234581157 234581157 + Missense_Mutation SNP A C g.chr2:234581157A>C c.577A>C p.I193L TCGA-W5-AA38-01A-11D-A417-09 UGT2B15 4 69520862 69520862 + Frame_Shift_Del DEL T - g.chr4:69520862delT c.1044delA p.L348fs TCGA-W5-AA39-01A-11D-A417-09 UGT2B15 4 69403575 69403575 + Missense_Mutation SNP G A g.chr4:69403575G>A c.1361C>T p.P454L TCGA-ZH-A8Y5-01A-11D-A417-09 UGT2B15 4 69519938 69519938 + Missense_Mutation SNP C A g.chr4:69519938C>A c.1130G>T p.G377V TCGA-ZH-A8Y8-01A-51D-A417-09 UGT3A1 5 35965666 35965666 + Missense_Mutation SNP T C g.chr5:35965666T>C c.665A>G p.D222G TCGA-W5-AA2Q-01A-11D-A417-09 UHMK1 1 162467956 162467956 + Missense_Mutation SNP T G g.chr1:162467956T>G c.166T>G p.F56V TCGA-W5-AA39-01A-11D-A417-09 UHMK1 1 162468011 162468011 + Missense_Mutation SNP G T g.chr1:162468011G>T c.221G>T p.R74L TCGA-ZH-A8Y4-01A-11D-A417-09 UHRF1 19 4954681 4954681 + RNA SNP G C g.chr19:4954681G>C TCGA-W5-AA2U-01A-11D-A417-09 UHRF1BP1 6 34803196 34803196 + Missense_Mutation SNP G T g.chr6:34803196G>T c.795G>T p.E265D TCGA-W5-AA2O-01A-11D-A417-09 UIMC1 5 176396234 176396234 + Silent SNP G A g.chr5:176396234G>A c.522C>T p.N174N TCGA-W5-AA39-01A-11D-A417-09 ULK4 3 41860985 41860985 + Missense_Mutation SNP T C g.chr3:41860985T>C c.1778A>G p.K593R TCGA-W5-AA2G-01A-11D-A417-09 UMODL1 21 43543114 43543114 + Missense_Mutation SNP G T g.chr21:43543114G>T c.3001G>T p.A1001S TCGA-WD-A7RX-01A-12D-A417-09 UNC13A 19 17756910 17756910 + Silent SNP G T g.chr19:17756910G>T c.2055C>A p.A685A TCGA-W5-AA34-01A-11D-A417-09 UNC13C 15 54556494 54556494 + Missense_Mutation SNP T C g.chr15:54556494T>C c.3577T>C p.F1193L TCGA-3X-AAVC-01A-21D-A417-09 UNC13C 15 54592537 54592537 + Missense_Mutation SNP C T g.chr15:54592537C>T c.4234C>T p.R1412C TCGA-W5-AA2I-01A-32D-A417-09 UNC13C 15 54305275 54305275 + Missense_Mutation SNP T A g.chr15:54305275T>A c.175T>A p.F59I TCGA-ZH-A8Y1-01A-11D-A417-09 UNC45B 17 33504088 33504088 + Missense_Mutation SNP C T g.chr17:33504088C>T c.2084C>T p.A695V TCGA-4G-AAZT-01A-11D-A417-09 UNC5A 5 176304913 176304913 + Nonsense_Mutation SNP G T g.chr5:176304913G>T c.1654G>T p.E552* TCGA-W5-AA31-01A-11D-A417-09 UNC5B 10 73050759 73050759 + Missense_Mutation SNP T G g.chr10:73050759T>G c.1187T>G p.V396G TCGA-4G-AAZO-01A-12D-A417-09 UNC5B 10 73051326 73051326 + Missense_Mutation SNP C T g.chr10:73051326C>T c.1432C>T p.P478S TCGA-ZD-A8I3-01A-11D-A417-09 UNC5D 8 35579781 35579781 + Missense_Mutation SNP G A g.chr8:35579781G>A c.1171G>A p.V391M TCGA-W5-AA34-01A-11D-A417-09 UNC5D 8 35544140 35544140 + Missense_Mutation SNP A T g.chr8:35544140A>T c.997A>T p.T333S TCGA-W5-AA39-01A-11D-A417-09 UNC93A 6 167717430 167717430 + Missense_Mutation SNP A G g.chr6:167717430A>G c.649A>G p.M217V TCGA-W5-AA39-01A-11D-A417-09 UPK3A 22 45681856 45681856 + Silent SNP T G g.chr22:45681856T>G c.87T>G p.T29T TCGA-W5-AA39-01A-11D-A417-09 UPP1 7 48139352 48139352 + Missense_Mutation SNP C A g.chr7:48139352C>A c.130C>A p.H44N TCGA-W5-AA2H-01A-31D-A417-09 UPP2 2 158977952 158977952 + Missense_Mutation SNP T G g.chr2:158977952T>G c.486T>G p.D162E TCGA-W5-AA39-01A-11D-A417-09 UPRT 23 74494297 74494297 + Missense_Mutation SNP G A g.chrX:74494297G>A c.208G>A p.G70S TCGA-ZH-A8Y4-01A-11D-A417-09 URB2 1 229779333 229779333 + Silent SNP T C g.chr1:229779333T>C c.3688T>C p.L1230L TCGA-W5-AA33-01A-11D-A417-09 UROC1 3 126208213 126208213 + Silent SNP C T g.chr3:126208213C>T c.1614G>A p.P538P TCGA-W5-AA2G-01A-11D-A417-09 UROD 1 45478646 45478646 + Missense_Mutation SNP T G g.chr1:45478646T>G c.88T>G p.Y30D TCGA-W5-AA39-01A-11D-A417-09 USH2A 1 216591858 216591858 + Nonsense_Mutation SNP G A g.chr1:216591858G>A c.649C>T p.Q217* TCGA-ZH-A8Y5-01A-11D-A417-09 USP12 13 27669906 27669906 + Silent SNP T G g.chr13:27669906T>G c.405A>C p.T135T TCGA-W5-AA39-01A-11D-A417-09 USP13 3 179458119 179458119 + Missense_Mutation SNP G T g.chr3:179458119G>T c.1339G>T p.D447Y TCGA-W5-AA2Z-01A-11D-A417-09 USP2 11 119243852 119243852 + Silent SNP G A g.chr11:119243852G>A c.339C>T p.F113F TCGA-W5-AA39-01A-11D-A417-09 USP20 9 132642541 132642541 + Missense_Mutation SNP C T g.chr9:132642541C>T c.2734C>T p.R912W TCGA-W5-AA2R-01A-11D-A417-09 USP21 1 161130441 161130441 + Missense_Mutation SNP C T g.chr1:161130441C>T c.11C>T p.A4V TCGA-3X-AAVC-01A-21D-A417-09 USP28 11 113674003 113674003 + Splice_Site SNP C A g.chr11:113674003C>A c.2739G>T p.K913N TCGA-W5-AA2U-01A-11D-A417-09 USP28 11 113683165 113683165 + Missense_Mutation SNP C A g.chr11:113683165C>A c.1805G>T p.W602L TCGA-W5-AA39-01A-11D-A417-09 USP29 19 57641516 57641517 + Missense_Mutation DNP GA TC g.chr19:57641516_57641517GA>TC c.1473_1474GA>TC p.491_492QK>HQ TCGA-3X-AAVC-01A-21D-A417-09 USP29 19 57642416 57642416 + Missense_Mutation SNP C A g.chr19:57642416C>A c.2373C>A p.N791K TCGA-3X-AAVC-01A-21D-A417-09 USP34 2 61484067 61484067 + Missense_Mutation SNP G T g.chr2:61484067G>T c.6067C>A p.Q2023K TCGA-3X-AAV9-01A-72D-A417-09 USP34 2 61523963 61523963 + Missense_Mutation SNP A C g.chr2:61523963A>C c.4226T>G p.M1409R TCGA-W5-AA39-01A-11D-A417-09 USP35 11 77921399 77921399 + Missense_Mutation SNP T C g.chr11:77921399T>C c.2498T>C p.L833P TCGA-W5-AA2T-01A-12D-A417-09 USP47 11 11969496 11969496 + Missense_Mutation SNP G C g.chr11:11969496G>C c.3156G>C p.L1052F TCGA-W6-AA0S-01A-11D-A417-09 USP48 1 22063114 22063114 + Silent SNP C T g.chr1:22063114C>T c.996G>A p.G332G TCGA-W5-AA2U-01A-11D-A417-09 USP6 17 5040990 5040990 + Silent SNP G T g.chr17:5040990G>T c.870G>T p.V290V TCGA-4G-AAZO-01A-12D-A417-09 USP6NL 10 11505503 11505503 + Missense_Mutation SNP G T g.chr10:11505503G>T c.1424C>A p.A475D TCGA-ZH-A8Y5-01A-11D-A417-09 USP8 15 50785054 50785054 + Silent SNP C T g.chr15:50785054C>T c.2391C>T p.N797N TCGA-W5-AA2H-01A-31D-A417-09 USP8 15 50785054 50785054 + Silent SNP C T g.chr15:50785054C>T c.2391C>T p.N797N TCGA-W5-AA2T-01A-12D-A417-09 USP8 15 50785016 50785016 + Missense_Mutation SNP A G g.chr15:50785016A>G c.2353A>G p.T785A TCGA-W5-AA31-01A-11D-A417-09 USP8 15 50785054 50785054 + Silent SNP C T g.chr15:50785054C>T c.2391C>T p.N797N TCGA-W5-AA31-01A-11D-A417-09 USP9X 23 41043819 41043819 + Missense_Mutation SNP A G g.chrX:41043819A>G c.3449A>G p.N1150S TCGA-W5-AA33-01A-11D-A417-09 USP9X 23 41088540 41088540 + Nonsense_Mutation SNP C T g.chrX:41088540C>T c.7096C>T p.R2366* TCGA-ZU-A8S4-01A-11D-A417-09 USPL1 13 31205413 31205413 + Missense_Mutation SNP G T g.chr13:31205413G>T c.670G>T p.A224S TCGA-W5-AA31-01A-11D-A417-09 USPL1 13 31205128 31205128 + Missense_Mutation SNP A G g.chr13:31205128A>G c.385A>G p.I129V TCGA-W5-AA39-01A-11D-A417-09 UTP14C 13 52603174 52603174 + Missense_Mutation SNP A C g.chr13:52603174A>C c.234A>C p.E78D TCGA-W5-AA39-01A-11D-A417-09 UTP15 5 72874933 72874933 + Missense_Mutation SNP G T g.chr5:72874933G>T c.1238G>T p.R413L TCGA-W5-AA2H-01A-31D-A417-09 UTP20 12 101705835 101705835 + Missense_Mutation SNP T C g.chr12:101705835T>C c.2333T>C p.M778T TCGA-W5-AA39-01A-11D-A417-09 UTP6 17 30192441 30192441 + Missense_Mutation SNP G T g.chr17:30192441G>T c.1580C>A p.A527E TCGA-ZH-A8Y1-01A-11D-A417-09 UTRN 6 145051568 145051568 + Missense_Mutation SNP G A g.chr6:145051568G>A c.7885G>A p.D2629N TCGA-W5-AA2R-01A-11D-A417-09 UTRN 6 144744760 144744760 + Missense_Mutation SNP A T g.chr6:144744760A>T c.310A>T p.N104Y TCGA-W5-AA39-01A-11D-A417-09 UXS1 2 106761718 106761718 + Missense_Mutation SNP C T g.chr2:106761718C>T c.385G>A p.V129M TCGA-4G-AAZO-01A-12D-A417-09 VAMP5 2 85820227 85820227 + Missense_Mutation SNP A T g.chr2:85820227A>T c.298A>T p.S100C TCGA-W5-AA39-01A-11D-A417-09 VANGL1 1 116206776 116206776 + Silent SNP C A g.chr1:116206776C>A c.699C>A p.I233I TCGA-W5-AA38-01A-11D-A417-09 VAPB 20 57016107 57016107 + Missense_Mutation SNP C A g.chr20:57016107C>A c.541C>A p.Q181K TCGA-4G-AAZT-01A-11D-A417-09 VARS 6 31752382 31752382 + Missense_Mutation SNP G T g.chr6:31752382G>T c.1457C>A p.S486Y TCGA-4G-AAZO-01A-12D-A417-09 VAV3 1 108247684 108247684 + Splice_Site SNP C A g.chr1:108247684C>A TCGA-W5-AA2O-01A-11D-A417-09 VCAM1 1 101186235 101186235 + Missense_Mutation SNP G A g.chr1:101186235G>A c.268G>A p.E90K TCGA-W5-AA2O-01A-11D-A417-09 VCL 10 75860838 75860838 + Silent SNP C A g.chr10:75860838C>A c.2005C>A p.R669R TCGA-4G-AAZO-01A-12D-A417-09 VCP 9 35060888 35060888 + Silent SNP C T g.chr9:35060888C>T c.1392G>A p.L464L TCGA-4G-AAZT-01A-11D-A417-09 VCPIP1 8 67577658 67577658 + Missense_Mutation SNP C A g.chr8:67577658C>A c.1536G>T p.L512F TCGA-ZH-A8Y6-01A-11D-A417-09 VENTX 10 135053262 135053262 + Silent SNP C T g.chr10:135053262C>T c.324C>T p.G108G TCGA-ZH-A8Y5-01A-11D-A417-09 VGLL4 3 11744451 11744451 + Missense_Mutation SNP C T g.chr3:11744451C>T c.58G>A p.E20K TCGA-W5-AA2U-01A-11D-A417-09 VHL 3 10191635 10191635 + Silent SNP C A g.chr3:10191635C>A c.628C>A p.R210R TCGA-W5-AA38-01A-11D-A417-09 VMO1 17 4688807 4688807 + Missense_Mutation SNP C A g.chr17:4688807C>A c.459G>T p.Q153H TCGA-W5-AA2T-01A-12D-A417-09 VNN1 6 133014343 133014343 + Missense_Mutation SNP A C g.chr6:133014343A>C c.646T>G p.F216V TCGA-W5-AA39-01A-11D-A417-09 VNN1 6 133034964 133034964 + Splice_Site SNP C T g.chr6:133034964C>T TCGA-W5-AA39-01A-11D-A417-09 VNN2 6 133070863 133070863 + Nonsense_Mutation SNP C A g.chr6:133070863C>A c.1342G>T p.E448* TCGA-W5-AA2H-01A-31D-A417-09 VPRBP 3 51449832 51449832 + Splice_Site SNP C G g.chr3:51449832C>G TCGA-ZH-A8Y5-01A-11D-A417-09 VPS13A 9 79936212 79936212 + Missense_Mutation SNP G T g.chr9:79936212G>T c.5543G>T p.C1848F TCGA-3X-AAVA-01A-11D-A417-09 VPS13A 9 79890501 79890501 + Missense_Mutation SNP G T g.chr9:79890501G>T c.2600G>T p.R867I TCGA-W5-AA2U-01A-11D-A417-09 VPS26A 10 70892799 70892799 + Missense_Mutation SNP G T g.chr10:70892799G>T c.149G>T p.G50V TCGA-3X-AAVA-01A-11D-A417-09 VPS26A 10 70916899 70916899 + Silent SNP C A g.chr10:70916899C>A c.366C>A p.I122I TCGA-3X-AAVC-01A-21D-A417-09 VPS26A 10 70928304 70928304 + Missense_Mutation SNP G T g.chr10:70928304G>T c.787G>T p.D263Y TCGA-ZH-A8Y4-01A-11D-A417-09 VPS26B 11 134113055 134113055 + Silent SNP G C g.chr11:134113055G>C c.588G>C p.L196L TCGA-ZH-A8Y5-01A-11D-A417-09 VPS33B 15 91557064 91557064 + Silent SNP G A g.chr15:91557064G>A c.327C>T p.R109R TCGA-W5-AA2W-01A-11D-A417-09 VPS33B 15 91544680 91544680 + Missense_Mutation SNP T C g.chr15:91544680T>C c.1418A>G p.D473G TCGA-W5-AA2X-01A-11D-A417-09 VPS39 15 42465949 42465949 + Silent SNP G T g.chr15:42465949G>T c.1095C>A p.S365S TCGA-W5-AA30-01A-31D-A417-09 VPS41 7 38791865 38791865 + Missense_Mutation SNP G T g.chr7:38791865G>T c.1837C>A p.H613N TCGA-W5-AA39-01A-11D-A417-09 VPS41 7 38860830 38860830 + Frame_Shift_Del DEL A - g.chr7:38860830delA c.357delT p.F119fs TCGA-W5-AA39-01A-11D-A417-09 VPS45 1 150054917 150054917 + Nonsense_Mutation SNP G T g.chr1:150054917G>T c.1054G>T p.E352* TCGA-4G-AAZO-01A-12D-A417-09 VPS52 6 33236870 33236870 + Nonsense_Mutation SNP G A g.chr6:33236870G>A c.469C>T p.R157* TCGA-W5-AA38-01A-11D-A417-09 VPS54 2 64189236 64189236 + Silent SNP T C g.chr2:64189236T>C c.966A>G p.T322T TCGA-3X-AAVA-01A-11D-A417-09 VPS8 3 184682319 184682319 + Missense_Mutation SNP C A g.chr3:184682319C>A c.3247C>A p.H1083N TCGA-W5-AA2Q-01A-11D-A417-09 VRK3 19 50519394 50519394 + Missense_Mutation SNP C T g.chr19:50519394C>T c.26G>A p.G9D TCGA-W5-AA2T-01A-12D-A417-09 VSIG1 23 107319375 107319375 + Missense_Mutation SNP G T g.chrX:107319375G>T c.757G>T p.V253F TCGA-3X-AAVA-01A-11D-A417-09 VWC2L 2 215279158 215279158 + Missense_Mutation SNP G T g.chr2:215279158G>T c.241G>T p.D81Y TCGA-W5-AA39-01A-11D-A417-09 VWF 12 6153555 6153555 + Missense_Mutation SNP G A g.chr12:6153555G>A c.2344C>T p.R782W TCGA-W5-AA34-01A-11D-A417-09 WAPAL 10 88230836 88230836 + Missense_Mutation SNP A C g.chr10:88230836A>C c.2055T>G p.C685W TCGA-ZH-A8Y8-01A-51D-A417-09 WASF1 6 110423269 110423269 + Silent SNP A G g.chr6:110423269A>G c.1044T>C p.P348P TCGA-3X-AAVB-01A-31D-A417-09 WASF2 1 27742558 27742558 + Missense_Mutation SNP G A g.chr1:27742558G>A c.458C>T p.P153L TCGA-W5-AA2Q-01A-11D-A417-09 WBP2 17 73847681 73847681 + Nonsense_Mutation SNP T A g.chr17:73847681T>A c.136A>T p.K46* TCGA-W5-AA39-01A-11D-A417-09 WBP4 13 41636805 41636805 + Missense_Mutation SNP A C g.chr13:41636805A>C c.28A>C p.K10Q TCGA-W5-AA39-01A-11D-A417-09 WBSCR22 7 73098119 73098119 + Missense_Mutation SNP G C g.chr7:73098119G>C c.71G>C p.R24P TCGA-W5-AA38-01A-11D-A417-09 WDFY1 2 224758968 224758968 + Missense_Mutation SNP C T g.chr2:224758968C>T c.814G>A p.D272N TCGA-W5-AA39-01A-11D-A417-09 WDFY3 4 85716106 85716106 + Missense_Mutation SNP G T g.chr4:85716106G>T c.3194C>A p.P1065H TCGA-W5-AA2U-01A-11D-A417-09 WDFY3 4 85687060 85687060 + Missense_Mutation SNP A C g.chr4:85687060A>C c.5091T>G p.N1697K TCGA-W5-AA39-01A-11D-A417-09 WDFY3 4 85678262 85678262 + Silent SNP G A g.chr4:85678262G>A c.5241C>T p.N1747N TCGA-WD-A7RX-01A-12D-A417-09 WDR11 10 122661797 122661797 + Nonsense_Mutation SNP G T g.chr10:122661797G>T c.2716G>T p.E906* TCGA-W5-AA30-01A-31D-A417-09 WDR12 2 203748929 203748929 + Missense_Mutation SNP C T g.chr2:203748929C>T c.980G>A p.R327Q TCGA-YR-A95A-01A-12D-A417-09 WDR13 23 48457849 48457849 + Splice_Site SNP A G g.chrX:48457849A>G c.391A>G p.R131G TCGA-W5-AA34-01A-11D-A417-09 WDR19 4 39226502 39226502 + Splice_Site SNP A T g.chr4:39226502A>T TCGA-ZU-A8S4-01A-11D-A417-09 WDR25 14 100847912 100847916 + Frame_Shift_Del DEL GTCTG - g.chr14:100847912_100847916delGTCTG c.651_655delGTCTG p.SE218fs TCGA-ZH-A8Y5-01A-11D-A417-09 WDR25 14 100847918 100847924 + Frame_Shift_Del DEL GTTTATT - g.chr14:100847918_100847924delGTTTATT c.657_663delGTTTATT p.EFI219fs TCGA-ZH-A8Y5-01A-11D-A417-09 WDR26 1 224605987 224605987 + Missense_Mutation SNP G T g.chr1:224605987G>T c.994C>A p.L332M TCGA-4G-AAZO-01A-12D-A417-09 WDR26 1 224599141 224599141 + Nonsense_Mutation SNP C T g.chr1:224599141C>T c.1146G>A p.W382* TCGA-W5-AA2U-01A-11D-A417-09 WDR27 6 170013745 170013745 + Missense_Mutation SNP G A g.chr6:170013745G>A c.2231C>T p.S744L TCGA-W5-AA2X-01A-11D-A417-09 WDR3 1 118495209 118495209 + Nonsense_Mutation SNP C A g.chr1:118495209C>A c.2075C>A p.S692* TCGA-3X-AAVA-01A-11D-A417-09 WDR33 2 128522061 128522061 + Intron SNP C T g.chr2:128522061C>T TCGA-W5-AA2H-01A-31D-A417-09 WDR33 2 128522166 128522166 + Intron SNP C T g.chr2:128522166C>T TCGA-W5-AA2U-01A-11D-A417-09 WDR33 2 128520647 128520647 + Missense_Mutation SNP C T g.chr2:128520647C>T c.713G>A p.R238K TCGA-W5-AA38-01A-11D-A417-09 WDR33 2 128471295 128471295 + Missense_Mutation SNP T G g.chr2:128471295T>G c.3170A>C p.D1057A TCGA-W5-AA39-01A-11D-A417-09 WDR34 9 131396553 131396553 + Missense_Mutation SNP G A g.chr9:131396553G>A c.1324C>T p.R442C TCGA-3X-AAVC-01A-21D-A417-09 WDR37 10 1170283 1170283 + Missense_Mutation SNP C T g.chr10:1170283C>T c.1229C>T p.A410V TCGA-W5-AA2I-01A-32D-A417-09 WDR44 23 117480529 117480529 + Silent SNP C T g.chrX:117480529C>T c.63C>T p.G21G TCGA-ZH-A8Y6-01A-11D-A417-09 WDR52 3 113063555 113063555 + Nonsense_Mutation SNP G A g.chr3:113063555G>A c.3070C>T p.R1024* TCGA-ZD-A8I3-01A-11D-A417-09 WDR52 3 113010415 113010415 + Missense_Mutation SNP C T g.chr3:113010415C>T c.5554G>A p.A1852T TCGA-ZH-A8Y4-01A-11D-A417-09 WDR55 5 140048015 140048015 + Missense_Mutation SNP C T g.chr5:140048015C>T c.308C>T p.S103F TCGA-W5-AA2G-01A-11D-A417-09 WDR60 7 158704268 158704268 + Silent SNP C T g.chr7:158704268C>T c.1488C>T p.L496L TCGA-ZH-A8Y6-01A-11D-A417-09 WDR61 15 78580718 78580718 + Missense_Mutation SNP G T g.chr15:78580718G>T c.569C>A p.A190D TCGA-W5-AA2Q-01A-11D-A417-09 WDR61 15 78582401 78582401 + Silent SNP A G g.chr15:78582401A>G c.360T>C p.Y120Y TCGA-W5-AA39-01A-11D-A417-09 WDR69 2 228771962 228771962 + Missense_Mutation SNP G T g.chr2:228771962G>T c.967G>T p.A323S TCGA-W5-AA2O-01A-11D-A417-09 WDR7 18 54424284 54424284 + Silent SNP C T g.chr18:54424284C>T c.2460C>T p.C820C TCGA-W5-AA2I-01A-32D-A417-09 WDR74 11 62601270 62601270 + Silent SNP C T g.chr11:62601270C>T c.915G>A p.E305E TCGA-W6-AA0S-01A-11D-A417-09 WDR81 17 1628548 1628548 + Missense_Mutation SNP C T g.chr17:1628548C>T c.295C>T p.P99S TCGA-W5-AA31-01A-11D-A417-09 WDR90 16 703802 703802 + Splice_Site SNP C T g.chr16:703802C>T c.1436C>T p.T479M TCGA-ZH-A8Y6-01A-11D-A417-09 WDR92 2 68371715 68371715 + Splice_Site SNP A C g.chr2:68371715A>C TCGA-W5-AA30-01A-31D-A417-09 WDR92 2 68371718 68371718 + Splice_Site SNP A T g.chr2:68371718A>T c.414T>A p.D138E TCGA-W5-AA30-01A-31D-A417-09 WDR93 15 90281353 90281353 + Missense_Mutation SNP C G g.chr15:90281353C>G c.1847C>G p.P616R TCGA-3X-AAVA-01A-11D-A417-09 WDR93 15 90245237 90245237 + Missense_Mutation SNP G A g.chr15:90245237G>A c.260G>A p.S87N TCGA-3X-AAVC-01A-21D-A417-09 WDTC1 1 27609889 27609889 + Missense_Mutation SNP G T g.chr1:27609889G>T c.240G>T p.K80N TCGA-W5-AA2U-01A-11D-A417-09 WEE2 7 141429375 141429375 + Missense_Mutation SNP C T g.chr7:141429375C>T c.1580C>T p.T527I TCGA-W5-AA31-01A-11D-A417-09 WFDC11 20 44279175 44279175 + Missense_Mutation SNP G T g.chr20:44279175G>T c.65C>A p.S22Y TCGA-WD-A7RX-01A-12D-A417-09 WFIKKN2 17 48913377 48913377 + Missense_Mutation SNP G T g.chr17:48913377G>T c.79G>T p.G27W TCGA-W6-AA0S-01A-11D-A417-09 WHSC1 4 1918727 1918727 + Missense_Mutation SNP G T g.chr4:1918727G>T c.890G>T p.S297I TCGA-ZH-A8Y2-01A-11D-A417-09 WHSC1L1 8 38205356 38205356 + Missense_Mutation SNP A G g.chr8:38205356A>G c.334T>C p.Y112H TCGA-W5-AA39-01A-11D-A417-09 WHSC1L1 8 38157087 38157087 + Nonsense_Mutation SNP G T g.chr8:38157087G>T c.2633C>A p.S878* TCGA-ZD-A8I3-01A-11D-A417-09 WIPF1 2 175431867 175431867 + Missense_Mutation SNP G A g.chr2:175431867G>A c.1387C>T p.P463S TCGA-3X-AAVA-01A-11D-A417-09 WIPF2 17 38421061 38421061 + Silent SNP G A g.chr17:38421061G>A c.633G>A p.P211P TCGA-W5-AA38-01A-11D-A417-09 WIPI1 17 66417950 66417950 + Silent SNP G A g.chr17:66417950G>A c.1305C>T p.C435C TCGA-ZH-A8Y4-01A-11D-A417-09 WISP3 6 112389433 112389433 + Nonsense_Mutation SNP G A g.chr6:112389433G>A c.615G>A p.W205* TCGA-W5-AA2X-01A-11D-A417-09 WIZ 19 15536231 15536231 + Missense_Mutation SNP A C g.chr19:15536231A>C c.4001T>G p.L1334R TCGA-4G-AAZT-01A-11D-A417-09 WNK1 12 966367 966367 + Missense_Mutation SNP A G g.chr12:966367A>G c.1352A>G p.E451G TCGA-W5-AA2O-01A-11D-A417-09 WNK1 12 989117 989117 + Missense_Mutation SNP G A g.chr12:989117G>A c.2752G>A p.A918T TCGA-W5-AA34-01A-11D-A417-09 WNK2 9 96070761 96070761 + Silent SNP G T g.chr9:96070761G>T c.6522G>T p.V2174V TCGA-W5-AA30-01A-31D-A417-09 WNK4 17 40946837 40946838 + Frame_Shift_Ins INS - TC g.chr17:40946837_40946838insTC c.2398_2399insTC p.F800fs TCGA-W5-AA39-01A-11D-A417-09 WNT10B 12 49360090 49360090 + Nonsense_Mutation SNP G A g.chr12:49360090G>A c.958C>T p.R320* TCGA-ZH-A8Y8-01A-51D-A417-09 WNT3A 1 228194881 228194881 + Missense_Mutation SNP G C g.chr1:228194881G>C c.52G>C p.G18R TCGA-W5-AA39-01A-11D-A417-09 WNT5A 3 55504231 55504231 + Nonsense_Mutation SNP G T g.chr3:55504231G>T c.1032C>A p.Y344* TCGA-W5-AA2O-01A-11D-A417-09 WNT9A 1 228109277 228109277 + Missense_Mutation SNP C T g.chr1:228109277C>T c.1040G>A p.C347Y TCGA-W5-AA2R-01A-11D-A417-09 WRAP53 17 7606344 7606344 + Silent SNP C T g.chr17:7606344C>T c.1302C>T p.S434S TCGA-ZH-A8Y5-01A-11D-A417-09 WSCD1 17 6023684 6023684 + Missense_Mutation SNP C A g.chr17:6023684C>A c.1431C>A p.D477E TCGA-ZD-A8I3-01A-11D-A417-09 WTIP 19 34981373 34981373 + Missense_Mutation SNP G T g.chr19:34981373G>T c.760G>T p.D254Y TCGA-ZH-A8Y4-01A-11D-A417-09 WWOX 16 78420808 78420808 + Missense_Mutation SNP G T g.chr16:78420808G>T c.568G>T p.V190L TCGA-3X-AAVB-01A-31D-A417-09 WWP1 8 87454934 87454934 + Missense_Mutation SNP A G g.chr8:87454934A>G c.1925A>G p.Q642R TCGA-W5-AA39-01A-11D-A417-09 WWP2 16 69921986 69921986 + Missense_Mutation SNP G T g.chr16:69921986G>T c.748G>T p.V250F TCGA-W5-AA2Z-01A-11D-A417-09 WWP2 16 69874107 69874107 + Missense_Mutation SNP T A g.chr16:69874107T>A c.419T>A p.F140Y TCGA-W5-AA39-01A-11D-A417-09 XAB2 19 7690922 7690922 + Missense_Mutation SNP G T g.chr19:7690922G>T c.666C>A p.H222Q TCGA-ZH-A8Y4-01A-11D-A417-09 XAGE3 23 52893907 52893907 + Silent SNP G T g.chrX:52893907G>T c.210C>A p.L70L TCGA-4G-AAZO-01A-12D-A417-09 XAGE3 23 52893878 52893878 + Missense_Mutation SNP C T g.chrX:52893878C>T c.239G>A p.G80D TCGA-W5-AA31-01A-11D-A417-09 XIRP2 2 168104887 168104887 + Silent SNP C T g.chr2:168104887C>T c.6985C>T p.L2329L TCGA-3X-AAV9-01A-72D-A417-09 XIRP2 2 168115754 168115754 + Missense_Mutation SNP G C g.chr2:168115754G>C c.2797G>C p.D933H TCGA-3X-AAV9-01A-72D-A417-09 XIRP2 2 168099965 168099965 + Missense_Mutation SNP A G g.chr2:168099965A>G c.2063A>G p.D688G TCGA-4G-AAZT-01A-11D-A417-09 XIRP2 2 168104508 168104508 + Missense_Mutation SNP G T g.chr2:168104508G>T c.6606G>T p.K2202N TCGA-W6-AA0S-01A-11D-A417-09 XKR3 22 17288751 17288751 + Silent SNP G A g.chr22:17288751G>A c.213C>T p.I71I TCGA-ZH-A8Y6-01A-11D-A417-09 XKR4 8 56015537 56015537 + Missense_Mutation SNP C A g.chr8:56015537C>A c.489C>A p.S163R TCGA-4G-AAZO-01A-12D-A417-09 XKR4 8 56015559 56015559 + Missense_Mutation SNP T G g.chr8:56015559T>G c.511T>G p.F171V TCGA-W5-AA39-01A-11D-A417-09 XKR4 8 56015562 56015562 + Missense_Mutation SNP A T g.chr8:56015562A>T c.514A>T p.S172C TCGA-W5-AA39-01A-11D-A417-09 XPNPEP1 10 111674853 111674853 + Missense_Mutation SNP T A g.chr10:111674853T>A c.37A>T p.N13Y TCGA-W5-AA2X-01A-11D-A417-09 XPNPEP1 10 111643856 111643856 + Missense_Mutation SNP A G g.chr10:111643856A>G c.799T>C p.S267P TCGA-W5-AA39-01A-11D-A417-09 XPNPEP2 23 128881717 128881717 + Nonsense_Mutation SNP G T g.chrX:128881717G>T c.625G>T p.E209* TCGA-ZH-A8Y2-01A-11D-A417-09 XPO1 2 61711107 61711107 + Missense_Mutation SNP G T g.chr2:61711107G>T c.2642C>A p.A881D TCGA-W5-AA2Q-01A-11D-A417-09 XPO5 6 43501688 43501688 + Missense_Mutation SNP G T g.chr6:43501688G>T c.2399C>A p.T800N TCGA-3X-AAVB-01A-31D-A417-09 XPO5 6 43519110 43519110 + Nonsense_Mutation SNP G T g.chr6:43519110G>T c.1653C>A p.C551* TCGA-W5-AA2R-01A-11D-A417-09 XPOT 12 64823857 64823857 + Missense_Mutation SNP G T g.chr12:64823857G>T c.1766G>T p.S589I TCGA-3X-AAVC-01A-21D-A417-09 XPOT 12 64824051 64824051 + Missense_Mutation SNP G T g.chr12:64824051G>T c.1960G>T p.A654S TCGA-W5-AA38-01A-11D-A417-09 XRCC6 22 42046801 42046801 + Missense_Mutation SNP G T g.chr22:42046801G>T c.1035G>T p.L345F TCGA-W5-AA2W-01A-11D-A417-09 XRCC6BP1 12 58340779 58340779 + Splice_Site SNP G T g.chr12:58340779G>T c.235G>T p.A79S TCGA-W5-AA2O-01A-11D-A417-09 XYLB 3 38401886 38401886 + Missense_Mutation SNP T G g.chr3:38401886T>G c.197T>G p.L66R TCGA-W5-AA39-01A-11D-A417-09 XYLT1 16 17228428 17228428 + Silent SNP G A g.chr16:17228428G>A c.1929C>T p.S643S TCGA-ZH-A8Y6-01A-11D-A417-09 YAF2 12 42555512 42555512 + Missense_Mutation SNP G A g.chr12:42555512G>A c.208C>T p.P70S TCGA-4G-AAZT-01A-11D-A417-09 YAP1 11 102100578 102100578 + Silent SNP G T g.chr11:102100578G>T c.1422G>T p.L474L TCGA-W6-AA0S-01A-11D-A417-09 YARS 1 33246690 33246690 + Silent SNP G T g.chr1:33246690G>T c.1099C>A p.R367R TCGA-4G-AAZT-01A-11D-A417-09 YDJC 22 21982727 21982727 + Missense_Mutation SNP G T g.chr22:21982727G>T c.952C>A p.L318M TCGA-W5-AA39-01A-11D-A417-09 YEATS2 3 183528369 183528369 + Nonstop_Mutation SNP T C g.chr3:183528369T>C c.4267T>C p.*1423R TCGA-W5-AA39-01A-11D-A417-09 YOD1 1 207223000 207223000 + Missense_Mutation SNP C A g.chr1:207223000C>A c.412G>T p.A138S TCGA-W5-AA38-01A-11D-A417-09 YPEL1 22 22064926 22064926 + Silent SNP G T g.chr22:22064926G>T c.108C>A p.L36L TCGA-W5-AA2Q-01A-11D-A417-09 YPEL2 17 57474462 57474462 + Splice_Site SNP G T g.chr17:57474462G>T c.271G>T p.E91* TCGA-W5-AA2X-01A-11D-A417-09 YTHDC1 4 69179995 69179995 + Missense_Mutation SNP G T g.chr4:69179995G>T c.2006C>A p.A669D TCGA-4G-AAZT-01A-11D-A417-09 YTHDF1 20 61834909 61834909 + Missense_Mutation SNP G A g.chr20:61834909G>A c.383C>T p.A128V TCGA-3X-AAVC-01A-21D-A417-09 YY1AP1 1 155629657 155629657 + Missense_Mutation SNP G T g.chr1:155629657G>T c.2182C>A p.P728T TCGA-WD-A7RX-01A-12D-A417-09 ZACN 17 74077646 74077646 + Silent SNP G A g.chr17:74077646G>A c.690G>A p.A230A TCGA-W5-AA2X-01A-11D-A417-09 ZAK 2 174085956 174085956 + Intron SNP A T g.chr2:174085956A>T TCGA-3X-AAVE-01A-11D-A417-09 ZAN 7 100349919 100349919 + RNA SNP T C g.chr7:100349919T>C TCGA-W5-AA2U-01A-11D-A417-09 ZAP70 2 98341665 98341665 + Missense_Mutation SNP G T g.chr2:98341665G>T c.513G>T p.E171D TCGA-4G-AAZO-01A-12D-A417-09 ZAR1 4 48494818 48494818 + Missense_Mutation SNP G T g.chr4:48494818G>T c.999G>T p.K333N TCGA-W5-AA2T-01A-12D-A417-09 ZBBX 3 167023497 167023497 + Silent SNP G T g.chr3:167023497G>T c.1659C>A p.S553S TCGA-W6-AA0S-01A-11D-A417-09 ZBED4 22 50278233 50278233 + Missense_Mutation SNP A T g.chr22:50278233A>T c.923A>T p.H308L TCGA-W5-AA39-01A-11D-A417-09 ZBTB11 3 101395620 101395620 + Missense_Mutation SNP G C g.chr3:101395620G>C c.139C>G p.L47V TCGA-W5-AA39-01A-11D-A417-09 ZBTB16 11 114121244 114121244 + Silent SNP A T g.chr11:114121244A>T c.1989A>T p.I663I TCGA-W5-AA39-01A-11D-A417-09 ZBTB24 6 109787628 109787628 + Missense_Mutation SNP G A g.chr6:109787628G>A c.1520C>T p.A507V TCGA-3X-AAVC-01A-21D-A417-09 ZBTB38 3 141162287 141162287 + Missense_Mutation SNP A T g.chr3:141162287A>T c.1057A>T p.S353C TCGA-W5-AA39-01A-11D-A417-09 ZBTB4 17 7369566 7369566 + Nonsense_Mutation SNP C T g.chr17:7369566C>T c.555G>A p.W185* TCGA-WD-A7RX-01A-12D-A417-09 ZBTB44 11 130108461 130108461 + Missense_Mutation SNP G T g.chr11:130108461G>T c.1145C>A p.P382H TCGA-W5-AA34-01A-11D-A417-09 ZBTB49 4 4304317 4304317 + Missense_Mutation SNP G T g.chr4:4304317G>T c.754G>T p.V252L TCGA-ZH-A8Y4-01A-11D-A417-09 ZBTB7A 19 4053996 4053996 + Missense_Mutation SNP C T g.chr19:4053996C>T c.1235G>A p.C412Y TCGA-ZH-A8Y5-01A-11D-A417-09 ZC3H11A 1 203821424 203821424 + Missense_Mutation SNP T C g.chr1:203821424T>C c.2330T>C p.I777T TCGA-W5-AA2W-01A-11D-A417-09 ZC3H12D 6 149772005 149772005 + Silent SNP T C g.chr6:149772005T>C c.1398A>G p.S466S TCGA-W5-AA39-01A-11D-A417-09 ZC3H15 2 187351163 187351163 + Silent SNP A G g.chr2:187351163A>G c.54A>G p.K18K TCGA-W5-AA39-01A-11D-A417-09 ZC3H6 2 113069514 113069514 + Splice_Site SNP G T g.chr2:113069514G>T c.747G>T p.E249D TCGA-W5-AA33-01A-11D-A417-09 ZC3H6 2 113079392 113079392 + Missense_Mutation SNP A G g.chr2:113079392A>G c.1036A>G p.K346E TCGA-W5-AA39-01A-11D-A417-09 ZC3H7A 16 11859523 11859523 + Missense_Mutation SNP T C g.chr16:11859523T>C c.1541A>G p.E514G TCGA-W5-AA2Q-01A-11D-A417-09 ZC3H7B 22 41723243 41723243 + Missense_Mutation SNP A G g.chr22:41723243A>G c.319A>G p.K107E TCGA-ZH-A8Y2-01A-11D-A417-09 ZC3H8 2 112991747 112991747 + Missense_Mutation SNP G T g.chr2:112991747G>T c.571C>A p.R191S TCGA-ZH-A8Y8-01A-51D-A417-09 ZC3HAV1 7 138768749 138768749 + Silent SNP C T g.chr7:138768749C>T c.474G>A p.R158R TCGA-WD-A7RX-01A-12D-A417-09 ZCCHC14 16 87446484 87446484 + Missense_Mutation SNP G T g.chr16:87446484G>T c.1432C>A p.P478T TCGA-3X-AAV9-01A-72D-A417-09 ZCCHC14 16 87443922 87443922 + Silent SNP G A g.chr16:87443922G>A c.2814C>T p.Y938Y TCGA-W6-AA0S-01A-11D-A417-09 ZCCHC3 20 278688 278688 + Missense_Mutation SNP C A g.chr20:278688C>A c.461C>A p.P154Q TCGA-W5-AA2O-01A-11D-A417-09 ZCCHC4 4 25363483 25363483 + Silent SNP A C g.chr4:25363483A>C c.1014A>C p.V338V TCGA-W5-AA39-01A-11D-A417-09 ZCCHC5 23 77912769 77912769 + Silent SNP A G g.chrX:77912769A>G c.1149T>C p.S383S TCGA-W5-AA30-01A-31D-A417-09 ZCCHC8 12 122973962 122973962 + Missense_Mutation SNP C T g.chr12:122973962C>T c.472G>A p.A158T TCGA-W5-AA39-01A-11D-A417-09 ZCWPW1 7 100014767 100014767 + Missense_Mutation SNP G A g.chr7:100014767G>A c.401C>T p.A134V TCGA-4G-AAZT-01A-11D-A417-09 ZCWPW1 7 100000187 100000187 + Missense_Mutation SNP G A g.chr7:100000187G>A c.1423C>T p.P475S TCGA-W5-AA2U-01A-11D-A417-09 ZCWPW2 3 28562602 28562602 + Nonsense_Mutation SNP G T g.chr3:28562602G>T c.904G>T p.E302* TCGA-3X-AAVC-01A-21D-A417-09 ZDHHC11 5 825360 825360 + Silent SNP T C g.chr5:825360T>C c.942A>G p.K314K TCGA-3X-AAV9-01A-72D-A417-09 ZDHHC11 5 825293 825293 + Missense_Mutation SNP C T g.chr5:825293C>T c.1009G>A p.D337N TCGA-W5-AA2O-01A-11D-A417-09 ZDHHC17 12 77208948 77208948 + Missense_Mutation SNP A G g.chr12:77208948A>G c.566A>G p.N189S TCGA-4G-AAZT-01A-11D-A417-09 ZDHHC21 9 14619079 14619079 + Missense_Mutation SNP G A g.chr9:14619079G>A c.683C>T p.P228L TCGA-W5-AA31-01A-11D-A417-09 ZDHHC24 11 66311234 66311234 + Missense_Mutation SNP G T g.chr11:66311234G>T c.500C>A p.A167D TCGA-3X-AAVA-01A-11D-A417-09 ZDHHC4 7 6621822 6621822 + Missense_Mutation SNP C T g.chr7:6621822C>T c.310C>T p.P104S TCGA-WD-A7RX-01A-12D-A417-09 ZDHHC6 10 114200370 114200370 + Silent SNP A G g.chr10:114200370A>G c.603T>C p.A201A TCGA-W5-AA2U-01A-11D-A417-09 ZDHHC6 10 114190585 114190585 + Nonsense_Mutation SNP C A g.chr10:114190585C>A c.1219G>T p.E407* TCGA-W5-AA31-01A-11D-A417-09 ZEB1 10 31791305 31791305 + Missense_Mutation SNP G A g.chr10:31791305G>A c.349G>A p.E117K TCGA-W5-AA2Q-01A-11D-A417-09 ZFAND1 8 82626157 82626157 + Missense_Mutation SNP G T g.chr8:82626157G>T c.476C>A p.P159Q TCGA-4G-AAZO-01A-12D-A417-09 ZFAND2A 7 1197813 1197813 + Missense_Mutation SNP T G g.chr7:1197813T>G c.36A>C p.E12D TCGA-W5-AA39-01A-11D-A417-09 ZFAND2B 2 220072731 220072731 + Silent SNP T C g.chr2:220072731T>C c.405T>C p.S135S TCGA-W5-AA39-01A-11D-A417-09 ZFAND2B 2 220072980 220072980 + Missense_Mutation SNP T G g.chr2:220072980T>G c.437T>G p.L146R TCGA-W5-AA39-01A-11D-A417-09 ZFAND6 15 80429825 80429825 + Missense_Mutation SNP T G g.chr15:80429825T>G c.482T>G p.F161C TCGA-W5-AA39-01A-11D-A417-09 ZFAT 8 135614580 135614580 + Missense_Mutation SNP G A g.chr8:135614580G>A c.1382C>T p.A461V TCGA-ZU-A8S4-01A-11D-A417-09 ZFC3H1 12 72024647 72024647 + Silent SNP G A g.chr12:72024647G>A c.3558C>T p.C1186C TCGA-W5-AA2G-01A-11D-A417-09 ZFC3H1 12 72057114 72057114 + Missense_Mutation SNP A G g.chr12:72057114A>G c.277T>C p.S93P TCGA-W5-AA39-01A-11D-A417-09 ZFHX3 16 72831573 72831573 + Missense_Mutation SNP T C g.chr16:72831573T>C c.5008A>G p.S1670G TCGA-W5-AA39-01A-11D-A417-09 ZFHX4 8 77617104 77617104 + Missense_Mutation SNP G T g.chr8:77617104G>T c.781G>T p.D261Y TCGA-4G-AAZO-01A-12D-A417-09 ZFHX4 8 77775451 77775451 + Silent SNP T A g.chr8:77775451T>A c.9501T>A p.P3167P TCGA-W5-AA2R-01A-11D-A417-09 ZFHX4 8 77761880 77761880 + Missense_Mutation SNP C T g.chr8:77761880C>T c.3778C>T p.H1260Y TCGA-W5-AA2T-01A-12D-A417-09 ZFP1 16 75203971 75203971 + Missense_Mutation SNP G T g.chr16:75203971G>T c.963G>T p.E321D TCGA-4G-AAZT-01A-11D-A417-09 ZFP106 15 42740764 42740764 + Silent SNP G T g.chr15:42740764G>T c.2572C>A p.R858R TCGA-W5-AA2O-01A-11D-A417-09 ZFP112 19 44832524 44832525 + Frame_Shift_Del DEL CT - g.chr19:44832524_44832525delCT c.1803_1804delAG p.RV601fs TCGA-4G-AAZO-01A-12D-A417-09 ZFP2 5 178359047 178359047 + Missense_Mutation SNP A C g.chr5:178359047A>C c.733A>C p.N245H TCGA-W5-AA39-01A-11D-A417-09 ZFP57 6 29640988 29640988 + IGR SNP G T g.chr6:29640988G>T TCGA-3X-AAVC-01A-21D-A417-09 ZFP64 20 50701719 50701719 + Frame_Shift_Del DEL C - g.chr20:50701719delC c.1315delG p.E439fs TCGA-W5-AA2Q-01A-11D-A417-09 ZFP64 20 50768700 50768700 + Missense_Mutation SNP G T g.chr20:50768700G>T c.2031C>A p.D677E TCGA-ZH-A8Y8-01A-51D-A417-09 ZFR 5 32407029 32407029 + Silent SNP A T g.chr5:32407029A>T c.882T>A p.A294A TCGA-ZH-A8Y8-01A-51D-A417-09 ZFYVE19 15 41099910 41099910 + Silent SNP A G g.chr15:41099910A>G c.123A>G p.A41A TCGA-W5-AA2I-01A-32D-A417-09 ZFYVE26 14 68265039 68265039 + Missense_Mutation SNP C G g.chr14:68265039C>G c.1940G>C p.S647T TCGA-W5-AA34-01A-11D-A417-09 ZFYVE26 14 68275965 68275965 + Silent SNP A G g.chr14:68275965A>G c.315T>C p.L105L TCGA-ZH-A8Y4-01A-11D-A417-09 ZFYVE9 1 52732339 52732339 + Missense_Mutation SNP A G g.chr1:52732339A>G c.2291A>G p.E764G TCGA-W5-AA39-01A-11D-A417-09 ZFYVE9 1 52732359 52732359 + Missense_Mutation SNP A C g.chr1:52732359A>C c.2311A>C p.S771R TCGA-W5-AA39-01A-11D-A417-09 ZHX2 8 123965153 123965153 + Missense_Mutation SNP A C g.chr8:123965153A>C c.1403A>C p.E468A TCGA-W5-AA39-01A-11D-A417-09 ZHX3 20 39832673 39832673 + Missense_Mutation SNP G C g.chr20:39832673G>C c.884C>G p.A295G TCGA-4G-AAZO-01A-12D-A417-09 ZHX3 20 39832988 39832988 + Missense_Mutation SNP A G g.chr20:39832988A>G c.569T>C p.M190T TCGA-ZD-A8I3-01A-11D-A417-09 ZIC3 23 136649399 136649399 + Silent SNP G A g.chrX:136649399G>A c.549G>A p.Q183Q TCGA-ZH-A8Y2-01A-11D-A417-09 ZIC5 13 100622668 100622670 + In_Frame_Del DEL GGC - g.chr13:100622668_100622670delGGC c.1260_1262delGCC p.420_421PP>P TCGA-3X-AAVC-01A-21D-A417-09 ZKSCAN2 16 25258433 25258433 + Nonsense_Mutation SNP C A g.chr16:25258433C>A c.1084G>T p.E362* TCGA-3X-AAVC-01A-21D-A417-09 ZKSCAN3 6 28333606 28333606 + Silent SNP G A g.chr6:28333606G>A c.1161G>A p.K387K TCGA-W6-AA0S-01A-11D-A417-09 ZKSCAN4 6 28213220 28213220 + Missense_Mutation SNP C T g.chr6:28213220C>T c.1312G>A p.G438S TCGA-WD-A7RX-01A-12D-A417-09 ZKSCAN5 7 99123689 99123689 + Silent SNP C T g.chr7:99123689C>T c.1026C>T p.G342G TCGA-W5-AA34-01A-11D-A417-09 ZMAT1 23 101153157 101153157 + Missense_Mutation SNP G T g.chrX:101153157G>T c.265C>A p.Q89K TCGA-W5-AA2G-01A-11D-A417-09 ZMIZ2 7 44804019 44804019 + Splice_Site SNP G T g.chr7:44804019G>T c.1862G>T p.C621F TCGA-ZD-A8I3-01A-11D-A417-09 ZMIZ2 7 44806150 44806150 + Missense_Mutation SNP T C g.chr7:44806150T>C c.2543T>C p.L848S TCGA-ZH-A8Y2-01A-11D-A417-09 ZMPSTE24 1 40724003 40724003 + Silent SNP C T g.chr1:40724003C>T c.60C>T p.F20F TCGA-3X-AAVB-01A-31D-A417-09 ZMYM1 1 35579573 35579573 + Missense_Mutation SNP G T g.chr1:35579573G>T c.2142G>T p.Q714H TCGA-W5-AA2Q-01A-11D-A417-09 ZMYM4 1 35824927 35824927 + Missense_Mutation SNP A C g.chr1:35824927A>C c.487A>C p.K163Q TCGA-W5-AA2G-01A-11D-A417-09 ZMYM6 1 35472571 35472571 + Missense_Mutation SNP G T g.chr1:35472571G>T c.1794C>A p.D598E TCGA-W5-AA2O-01A-11D-A417-09 ZMYND17 10 75184905 75184905 + Missense_Mutation SNP G T g.chr10:75184905G>T c.1114C>A p.L372M TCGA-W6-AA0S-01A-11D-A417-09 ZNF100 19 21910398 21910398 + Missense_Mutation SNP C T g.chr19:21910398C>T c.716G>A p.G239D TCGA-W5-AA2W-01A-11D-A417-09 ZNF100 19 21910039 21910039 + Missense_Mutation SNP T C g.chr19:21910039T>C c.1075A>G p.T359A TCGA-W5-AA30-01A-31D-A417-09 ZNF100 19 21910728 21910728 + Missense_Mutation SNP T A g.chr19:21910728T>A c.386A>T p.E129V TCGA-W5-AA31-01A-11D-A417-09 ZNF12 7 6731851 6731851 + Missense_Mutation SNP T C g.chr7:6731851T>C c.722A>G p.Y241C TCGA-3X-AAVE-01A-11D-A417-09 ZNF12 7 6731408 6731408 + Frame_Shift_Del DEL T - g.chr7:6731408delT c.1165delA p.T389fs TCGA-ZD-A8I3-01A-11D-A417-09 ZNF132 19 58945596 58945596 + Silent SNP G A g.chr19:58945596G>A c.1215C>T p.C405C TCGA-YR-A95A-01A-12D-A417-09 ZNF134 19 58132575 58132575 + Missense_Mutation SNP A T g.chr19:58132575A>T c.1088A>T p.Q363L TCGA-W5-AA39-01A-11D-A417-09 ZNF134 19 58132757 58132757 + Missense_Mutation SNP G A g.chr19:58132757G>A c.1270G>A p.A424T TCGA-ZH-A8Y2-01A-11D-A417-09 ZNF135 19 58578438 58578438 + Missense_Mutation SNP A G g.chr19:58578438A>G c.586A>G p.R196G TCGA-W5-AA38-01A-11D-A417-09 ZNF136 19 12297963 12297963 + Missense_Mutation SNP G A g.chr19:12297963G>A c.770G>A p.C257Y TCGA-3X-AAVE-01A-11D-A417-09 ZNF14 19 19822519 19822519 + Missense_Mutation SNP A T g.chr19:19822519A>T c.1571T>A p.I524N TCGA-W5-AA30-01A-31D-A417-09 ZNF14 19 19824917 19824917 + Missense_Mutation SNP G T g.chr19:19824917G>T c.174C>A p.N58K TCGA-W5-AA34-01A-11D-A417-09 ZNF141 4 367218 367218 + Missense_Mutation SNP G T g.chr4:367218G>T c.992G>T p.R331I TCGA-W5-AA2Q-01A-11D-A417-09 ZNF157 23 47272743 47272743 + Missense_Mutation SNP G T g.chrX:47272743G>T c.1271G>T p.S424I TCGA-W5-AA2U-01A-11D-A417-09 ZNF157 23 47272699 47272699 + Silent SNP A G g.chrX:47272699A>G c.1227A>G p.S409S TCGA-W6-AA0S-01A-11D-A417-09 ZNF16 8 146156248 146156248 + Nonsense_Mutation SNP G T g.chr8:146156248G>T c.1925C>A p.S642* TCGA-W5-AA2W-01A-11D-A417-09 ZNF165 6 28053623 28053623 + Missense_Mutation SNP C A g.chr6:28053623C>A c.365C>A p.T122N TCGA-YR-A95A-01A-12D-A417-09 ZNF175 19 52090212 52090212 + Nonsense_Mutation SNP G T g.chr19:52090212G>T c.628G>T p.E210* TCGA-YR-A95A-01A-12D-A417-09 ZNF177 19 9491917 9491917 + Silent SNP A C g.chr19:9491917A>C c.910A>C p.R304R TCGA-W5-AA39-01A-11D-A417-09 ZNF18 17 11896084 11896084 + Silent SNP G A g.chr17:11896084G>A c.63C>T p.S21S TCGA-W5-AA2G-01A-11D-A417-09 ZNF184 6 27420368 27420368 + Missense_Mutation SNP G T g.chr6:27420368G>T c.970C>A p.H324N TCGA-W5-AA30-01A-31D-A417-09 ZNF184 6 27420544 27420544 + Missense_Mutation SNP A C g.chr6:27420544A>C c.794T>G p.L265R TCGA-W5-AA39-01A-11D-A417-09 ZNF185 23 152085855 152085856 + Frame_Shift_Ins INS - TA g.chrX:152085855_152085856insTA c.290_291insTA p.S98fs TCGA-4G-AAZO-01A-12D-A417-09 ZNF195 11 3381489 3381489 + Missense_Mutation SNP C T g.chr11:3381489C>T c.749G>A p.G250D TCGA-ZH-A8Y5-01A-11D-A417-09 ZNF208 19 22157034 22157034 + Nonsense_Mutation SNP G A g.chr19:22157034G>A c.802C>T p.Q268* TCGA-3X-AAV9-01A-72D-A417-09 ZNF208 19 22154193 22154193 + Missense_Mutation SNP G T g.chr19:22154193G>T c.3643C>A p.H1215N TCGA-3X-AAVB-01A-31D-A417-09 ZNF208 19 22154452 22154452 + Silent SNP A G g.chr19:22154452A>G c.3384T>C p.L1128L TCGA-3X-AAVE-01A-11D-A417-09 ZNF208 19 22157097 22157097 + Missense_Mutation SNP G T g.chr19:22157097G>T c.739C>A p.H247N TCGA-4G-AAZO-01A-12D-A417-09 ZNF223 19 44564661 44564661 + Silent SNP G T g.chr19:44564661G>T c.69G>T p.G23G TCGA-W5-AA2T-01A-12D-A417-09 ZNF233 19 44777811 44777812 + Frame_Shift_Del DEL AG - g.chr19:44777811_44777812delAG c.998_999delAG p.Q333fs TCGA-W5-AA2I-01A-32D-A417-09 ZNF234 19 44660536 44660536 + Missense_Mutation SNP C T g.chr19:44660536C>T c.367C>T p.R123W TCGA-ZH-A8Y4-01A-11D-A417-09 ZNF234 19 44661838 44661838 + Missense_Mutation SNP G T g.chr19:44661838G>T c.1669G>T p.A557S TCGA-ZH-A8Y8-01A-51D-A417-09 ZNF250 8 146107584 146107584 + Missense_Mutation SNP G T g.chr8:146107584G>T c.999C>A p.H333Q TCGA-3X-AAVC-01A-21D-A417-09 ZNF253 19 20002885 20002885 + Missense_Mutation SNP G T g.chr19:20002885G>T c.829G>T p.V277F TCGA-ZH-A8Y1-01A-11D-A417-09 ZNF254 19 24310210 24310210 + Missense_Mutation SNP G T g.chr19:24310210G>T c.1408G>T p.A470S TCGA-ZH-A8Y2-01A-11D-A417-09 ZNF254 19 24289441 24289441 + Silent SNP C A g.chr19:24289441C>A c.249C>A p.P83P TCGA-ZH-A8Y8-01A-51D-A417-09 ZNF259 11 116657702 116657702 + Missense_Mutation SNP G A g.chr11:116657702G>A c.407C>T p.A136V TCGA-4G-AAZO-01A-12D-A417-09 ZNF263 16 3339426 3339426 + Missense_Mutation SNP C A g.chr16:3339426C>A c.920C>A p.P307Q TCGA-W5-AA2H-01A-31D-A417-09 ZNF264 19 57723025 57723025 + Nonsense_Mutation SNP C A g.chr19:57723025C>A c.560C>A p.S187* TCGA-4G-AAZO-01A-12D-A417-09 ZNF268 12 133764550 133764550 + Silent SNP G T g.chr12:133764550G>T c.126G>T p.L42L TCGA-W5-AA2W-01A-11D-A417-09 ZNF274 19 58718365 58718365 + Splice_Site SNP T C g.chr19:58718365T>C c.533T>C p.L178P TCGA-W5-AA39-01A-11D-A417-09 ZNF280D 15 56959057 56959057 + Missense_Mutation SNP G A g.chr15:56959057G>A c.1673C>T p.A558V TCGA-W5-AA2X-01A-11D-A417-09 ZNF281 1 200376559 200376559 + Missense_Mutation SNP A C g.chr1:200376559A>C c.2275T>G p.L759V TCGA-W5-AA39-01A-11D-A417-09 ZNF287 17 16455209 16455209 + Silent SNP C T g.chr17:16455209C>T c.2247G>A p.Q749Q TCGA-3X-AAVC-01A-21D-A417-09 ZNF292 6 87964852 87964852 + Missense_Mutation SNP G T g.chr6:87964852G>T c.1505G>T p.G502V TCGA-3X-AAV9-01A-72D-A417-09 ZNF292 6 87969651 87969651 + Missense_Mutation SNP C A g.chr6:87969651C>A c.6304C>A p.L2102I TCGA-4G-AAZO-01A-12D-A417-09 ZNF295 21 43412457 43412457 + Missense_Mutation SNP C G g.chr21:43412457C>G c.1748G>C p.R583T TCGA-W5-AA39-01A-11D-A417-09 ZNF30 19 35434870 35434870 + Missense_Mutation SNP C T g.chr19:35434870C>T c.1000C>T p.H334Y TCGA-ZH-A8Y5-01A-11D-A417-09 ZNF317 19 9271878 9271878 + Silent SNP G T g.chr19:9271878G>T c.1557G>T p.T519T TCGA-W5-AA2Q-01A-11D-A417-09 ZNF329 19 58639391 58639391 + Missense_Mutation SNP G T g.chr19:58639391G>T c.1480C>A p.Q494K TCGA-W5-AA2O-01A-11D-A417-09 ZNF334 20 45130856 45130856 + Missense_Mutation SNP C A g.chr20:45130856C>A c.1122G>T p.E374D TCGA-3X-AAVB-01A-31D-A417-09 ZNF33A 10 38343567 38343567 + Missense_Mutation SNP C T g.chr10:38343567C>T c.512C>T p.A171V TCGA-WD-A7RX-01A-12D-A417-09 ZNF33B 10 43089614 43089614 + Missense_Mutation SNP G T g.chr10:43089614G>T c.784C>A p.L262I TCGA-ZD-A8I3-01A-11D-A417-09 ZNF345 19 37367799 37367799 + Missense_Mutation SNP C G g.chr19:37367799C>G c.67C>G p.Q23E TCGA-W5-AA34-01A-11D-A417-09 ZNF345 19 37368144 37368144 + Silent SNP A C g.chr19:37368144A>C c.412A>C p.R138R TCGA-W5-AA39-01A-11D-A417-09 ZNF345 19 37368149 37368149 + Missense_Mutation SNP T G g.chr19:37368149T>G c.417T>G p.I139M TCGA-W5-AA39-01A-11D-A417-09 ZNF345 19 37367894 37367894 + Missense_Mutation SNP A T g.chr19:37367894A>T c.162A>T p.R54S TCGA-ZH-A8Y1-01A-11D-A417-09 ZNF354A 5 178154001 178154001 + Splice_Site SNP C G g.chr5:178154001C>G c.159G>C p.L53L TCGA-W5-AA39-01A-11D-A417-09 ZNF354C 5 178506225 178506225 + Missense_Mutation SNP A C g.chr5:178506225A>C c.792A>C p.R264S TCGA-W5-AA39-01A-11D-A417-09 ZNF362 1 33741758 33741758 + Silent SNP C A g.chr1:33741758C>A c.96C>A p.P32P TCGA-W5-AA2X-01A-11D-A417-09 ZNF385D 3 21462759 21462759 + Missense_Mutation SNP C A g.chr3:21462759C>A c.1135G>T p.A379S TCGA-W5-AA2G-01A-11D-A417-09 ZNF391 6 27368676 27368676 + Missense_Mutation SNP G T g.chr6:27368676G>T c.527G>T p.R176L TCGA-W5-AA2Z-01A-11D-A417-09 ZNF407 18 72776395 72776396 + Frame_Shift_Del DEL AG - g.chr18:72776395_72776396delAG c.6718_6719delAG p.R2240fs TCGA-ZH-A8Y4-01A-11D-A417-09 ZNF408 11 46724728 46724728 + Missense_Mutation SNP A C g.chr11:46724728A>C c.587A>C p.E196A TCGA-ZH-A8Y8-01A-51D-A417-09 ZNF410 14 74387683 74387683 + Splice_Site SNP G A g.chr14:74387683G>A c.1004G>A p.G335E TCGA-W5-AA39-01A-11D-A417-09 ZNF415 19 53612346 53612346 + Missense_Mutation SNP G T g.chr19:53612346G>T c.952C>A p.H318N TCGA-W5-AA33-01A-11D-A417-09 ZNF416 19 58084364 58084364 + Missense_Mutation SNP C A g.chr19:58084364C>A c.908G>T p.C303F TCGA-3X-AAVA-01A-11D-A417-09 ZNF418 19 58437921 58437921 + Missense_Mutation SNP C A g.chr19:58437921C>A c.1628G>T p.C543F TCGA-3X-AAVE-01A-11D-A417-09 ZNF423 16 49823430 49823430 + Missense_Mutation SNP G A g.chr16:49823430G>A c.44C>T p.S15L TCGA-ZU-A8S4-01A-11D-A417-09 ZNF43 19 21991811 21991811 + Missense_Mutation SNP G T g.chr19:21991811G>T c.1028C>A p.T343K TCGA-W5-AA2G-01A-11D-A417-09 ZNF430 19 21240049 21240049 + Missense_Mutation SNP C T g.chr19:21240049C>T c.935C>T p.T312I TCGA-ZH-A8Y6-01A-11D-A417-09 ZNF430 19 21240159 21240159 + Missense_Mutation SNP G C g.chr19:21240159G>C c.1045G>C p.E349Q TCGA-ZH-A8Y6-01A-11D-A417-09 ZNF431 19 21350428 21350428 + Missense_Mutation SNP C T g.chr19:21350428C>T c.278C>T p.P93L TCGA-W5-AA30-01A-31D-A417-09 ZNF432 19 52538068 52538068 + Silent SNP G T g.chr19:52538068G>T c.864C>A p.P288P TCGA-4G-AAZO-01A-12D-A417-09 ZNF434 16 3434880 3434880 + Silent SNP A G g.chr16:3434880A>G c.813T>C p.S271S TCGA-W5-AA39-01A-11D-A417-09 ZNF441 19 11891967 11891967 + Missense_Mutation SNP G T g.chr19:11891967G>T c.1328G>T p.G443V TCGA-W5-AA2I-01A-32D-A417-09 ZNF442 19 12461025 12461025 + Missense_Mutation SNP C A g.chr19:12461025C>A c.1374G>T p.E458D TCGA-4G-AAZO-01A-12D-A417-09 ZNF449 23 134494603 134494603 + Nonsense_Mutation SNP C T g.chrX:134494603C>T c.1159C>T p.R387* TCGA-W5-AA2U-01A-11D-A417-09 ZNF45 19 44417593 44417593 + Silent SNP A G g.chr19:44417593A>G c.1995T>C p.D665D TCGA-W5-AA31-01A-11D-A417-09 ZNF467 7 149462038 149462038 + Missense_Mutation SNP G T g.chr7:149462038G>T c.1553C>A p.A518D TCGA-ZH-A8Y4-01A-11D-A417-09 ZNF468 19 53344781 53344781 + Nonsense_Mutation SNP G A g.chr19:53344781G>A c.766C>T p.R256* TCGA-W5-AA2R-01A-11D-A417-09 ZNF480 19 52825571 52825571 + Silent SNP G T g.chr19:52825571G>T c.1068G>T p.A356A TCGA-W5-AA38-01A-11D-A417-09 ZNF485 10 44104181 44104181 + Silent SNP G T g.chr10:44104181G>T c.144G>T p.V48V TCGA-ZH-A8Y4-01A-11D-A417-09 ZNF500 16 4815793 4815793 + Missense_Mutation SNP C G g.chr16:4815793C>G c.187G>C p.G63R TCGA-W5-AA39-01A-11D-A417-09 ZNF500 16 4802537 4802537 + Missense_Mutation SNP C T g.chr16:4802537C>T c.1283G>A p.R428H TCGA-YR-A95A-01A-12D-A417-09 ZNF503 10 77161113 77161115 + In_Frame_Del DEL CCG - g.chr10:77161113_77161115delCCG c.63_65delCGG p.21_22GG>G TCGA-W5-AA2Q-01A-11D-A417-09 ZNF511 10 135123330 135123330 + Missense_Mutation SNP C T g.chr10:135123330C>T c.278C>T p.A93V TCGA-ZH-A8Y6-01A-11D-A417-09 ZNF512B 20 62594090 62594090 + Silent SNP C T g.chr20:62594090C>T c.2013G>A p.P671P TCGA-3X-AAVC-01A-21D-A417-09 ZNF513 2 27601102 27601102 + Silent SNP G A g.chr2:27601102G>A c.936C>T p.F312F TCGA-W5-AA39-01A-11D-A417-09 ZNF516 18 74090965 74090965 + Splice_Site SNP C G g.chr18:74090965C>G c.3105G>C p.A1035A TCGA-ZH-A8Y6-01A-11D-A417-09 ZNF521 18 22805339 22805339 + Missense_Mutation SNP G A g.chr18:22805339G>A c.2543C>T p.S848F TCGA-W5-AA34-01A-11D-A417-09 ZNF521 18 22669523 22669523 + Nonsense_Mutation SNP A T g.chr18:22669523A>T c.3812T>A p.L1271* TCGA-ZH-A8Y8-01A-51D-A417-09 ZNF526 19 42729173 42729173 + Silent SNP C T g.chr19:42729173C>T c.618C>T p.C206C TCGA-W5-AA39-01A-11D-A417-09 ZNF527 19 37879856 37879856 + Missense_Mutation SNP A G g.chr19:37879856A>G c.905A>G p.Y302C TCGA-W5-AA2U-01A-11D-A417-09 ZNF527 19 37879999 37879999 + Missense_Mutation SNP A G g.chr19:37879999A>G c.1048A>G p.R350G TCGA-W5-AA38-01A-11D-A417-09 ZNF529 19 37038201 37038201 + Missense_Mutation SNP T G g.chr19:37038201T>G c.1259A>C p.K420T TCGA-W5-AA39-01A-11D-A417-09 ZNF534 19 52941105 52941105 + Missense_Mutation SNP G T g.chr19:52941105G>T c.431G>T p.G144V TCGA-3X-AAVE-01A-11D-A417-09 ZNF534 19 52941195 52941195 + Missense_Mutation SNP A T g.chr19:52941195A>T c.521A>T p.N174I TCGA-W5-AA30-01A-31D-A417-09 ZNF536 19 31039277 31039277 + Silent SNP C A g.chr19:31039277C>A c.2751C>A p.S917S TCGA-4G-AAZO-01A-12D-A417-09 ZNF536 19 30934714 30934714 + Missense_Mutation SNP C T g.chr19:30934714C>T c.245C>T p.A82V TCGA-W5-AA2I-01A-32D-A417-09 ZNF543 19 57840047 57840047 + Missense_Mutation SNP G A g.chr19:57840047G>A c.1217G>A p.R406H TCGA-W5-AA30-01A-31D-A417-09 ZNF546 19 40520472 40520472 + Missense_Mutation SNP G A g.chr19:40520472G>A c.1295G>A p.R432H TCGA-W5-AA2G-01A-11D-A417-09 ZNF547 19 57888521 57888521 + Missense_Mutation SNP G T g.chr19:57888521G>T c.177G>T p.E59D TCGA-W5-AA2O-01A-11D-A417-09 ZNF547 19 57888623 57888623 + Silent SNP C T g.chr19:57888623C>T c.279C>T p.S93S TCGA-W5-AA33-01A-11D-A417-09 ZNF557 19 7083328 7083328 + Missense_Mutation SNP A G g.chr19:7083328A>G c.845A>G p.E282G TCGA-W5-AA2W-01A-11D-A417-09 ZNF560 19 9579006 9579006 + Missense_Mutation SNP C A g.chr19:9579006C>A c.617G>T p.R206I TCGA-4G-AAZO-01A-12D-A417-09 ZNF569 19 37904891 37904891 + Missense_Mutation SNP G T g.chr19:37904891G>T c.669C>A p.F223L TCGA-W5-AA2R-01A-11D-A417-09 ZNF569 19 37904939 37904939 + Silent SNP A G g.chr19:37904939A>G c.621T>C p.I207I TCGA-W5-AA39-01A-11D-A417-09 ZNF569 19 37905042 37905042 + Nonsense_Mutation SNP G T g.chr19:37905042G>T c.518C>A p.S173* TCGA-ZU-A8S4-01A-11D-A417-09 ZNF583 19 56934339 56934339 + Silent SNP G T g.chr19:56934339G>T c.312G>T p.V104V TCGA-4G-AAZO-01A-12D-A417-09 ZNF583 19 56935118 56935118 + Missense_Mutation SNP G A g.chr19:56935118G>A c.1091G>A p.R364H TCGA-W5-AA2W-01A-11D-A417-09 ZNF583 19 56935139 56935139 + Missense_Mutation SNP A G g.chr19:56935139A>G c.1112A>G p.Q371R TCGA-W5-AA39-01A-11D-A417-09 ZNF586 19 58290630 58290630 + Missense_Mutation SNP G T g.chr19:58290630G>T c.675G>T p.R225S TCGA-4G-AAZO-01A-12D-A417-09 ZNF598 16 2052396 2052396 + Missense_Mutation SNP G A g.chr16:2052396G>A c.541C>T p.R181W TCGA-W5-AA2Z-01A-11D-A417-09 ZNF598 16 2052709 2052709 + Missense_Mutation SNP A G g.chr16:2052709A>G c.325T>C p.Y109H TCGA-W5-AA39-01A-11D-A417-09 ZNF606 19 58491019 58491019 + Missense_Mutation SNP G T g.chr19:58491019G>T c.1029C>A p.N343K TCGA-W5-AA39-01A-11D-A417-09 ZNF609 15 64968453 64968453 + Missense_Mutation SNP C A g.chr15:64968453C>A c.3400C>A p.Q1134K TCGA-W5-AA38-01A-11D-A417-09 ZNF609 15 64968457 64968457 + Splice_Site SNP T G g.chr15:64968457T>G TCGA-W5-AA38-01A-11D-A417-09 ZNF610 19 52852438 52852438 + Missense_Mutation SNP G A g.chr19:52852438G>A c.13G>A p.E5K TCGA-3X-AAV9-01A-72D-A417-09 ZNF613 19 52448266 52448266 + Missense_Mutation SNP G T g.chr19:52448266G>T c.1130G>T p.C377F TCGA-4G-AAZO-01A-12D-A417-09 ZNF615 19 52497156 52497156 + Silent SNP C T g.chr19:52497156C>T c.1173G>A p.Q391Q TCGA-ZD-A8I3-01A-11D-A417-09 ZNF624 17 16527621 16527621 + Silent SNP G T g.chr17:16527621G>T c.579C>A p.L193L TCGA-W5-AA2H-01A-31D-A417-09 ZNF628 19 55994920 55994920 + Missense_Mutation SNP C T g.chr19:55994920C>T c.2360C>T p.A787V TCGA-3X-AAVC-01A-21D-A417-09 ZNF630 23 47918881 47918881 + Missense_Mutation SNP T G g.chrX:47918881T>G c.950A>C p.K317T TCGA-W5-AA39-01A-11D-A417-09 ZNF638 2 71661914 71661914 + Missense_Mutation SNP G T g.chr2:71661914G>T c.5914G>T p.A1972S TCGA-W5-AA2Q-01A-11D-A417-09 ZNF638 2 71650945 71650945 + Missense_Mutation SNP C A g.chr2:71650945C>A c.4301C>A p.A1434D TCGA-ZH-A8Y8-01A-51D-A417-09 ZNF642 1 40945074 40945074 + Missense_Mutation SNP G A g.chr1:40945074G>A c.41G>A p.S14N TCGA-ZH-A8Y6-01A-11D-A417-09 ZNF648 1 182025729 182025729 + Missense_Mutation SNP C T g.chr1:182025729C>T c.1417G>A p.E473K TCGA-W5-AA31-01A-11D-A417-09 ZNF649 19 52395140 52395140 + Missense_Mutation SNP T G g.chr19:52395140T>G c.249A>C p.K83N TCGA-ZH-A8Y5-01A-11D-A417-09 ZNF653 19 11594920 11594920 + Missense_Mutation SNP G C g.chr19:11594920G>C c.1607C>G p.S536C TCGA-ZH-A8Y1-01A-11D-A417-09 ZNF676 19 22363737 22363737 + Missense_Mutation SNP C G g.chr19:22363737C>G c.782G>C p.G261A TCGA-W5-AA2U-01A-11D-A417-09 ZNF676 19 22363736 22363737 + Missense_Mutation DNP TC AG g.chr19:22363736_22363737TC>AG c.782_783GA>CT p.G261A TCGA-W5-AA34-01A-11D-A417-09 ZNF676 19 22363737 22363737 + Missense_Mutation SNP C G g.chr19:22363737C>G c.782G>C p.G261A TCGA-ZH-A8Y2-01A-11D-A417-09 ZNF677 19 53740544 53740544 + Missense_Mutation SNP C A g.chr19:53740544C>A c.1436G>T p.R479I TCGA-3X-AAVC-01A-21D-A417-09 ZNF682 19 20117004 20117004 + Missense_Mutation SNP C A g.chr19:20117004C>A c.1307G>T p.R436L TCGA-ZH-A8Y8-01A-51D-A417-09 ZNF683 1 26691514 26691514 + Missense_Mutation SNP A G g.chr1:26691514A>G c.523T>C p.C175R TCGA-W5-AA2H-01A-31D-A417-09 ZNF69 19 12014751 12014751 + Silent SNP T C g.chr19:12014751T>C c.222T>C p.Y74Y TCGA-W5-AA39-01A-11D-A417-09 ZNF691 1 43317239 43317239 + Missense_Mutation SNP A T g.chr1:43317239A>T c.610A>T p.S204C TCGA-W5-AA2I-01A-32D-A417-09 ZNF697 1 120166656 120166656 + Missense_Mutation SNP G A g.chr1:120166656G>A c.310C>T p.P104S TCGA-W5-AA2W-01A-11D-A417-09 ZNF699 19 9407095 9407095 + Missense_Mutation SNP G A g.chr19:9407095G>A c.985C>T p.H329Y TCGA-W5-AA39-01A-11D-A417-09 ZNF7 8 146067377 146067377 + Silent SNP G A g.chr8:146067377G>A c.885G>A p.Q295Q TCGA-W5-AA2Z-01A-11D-A417-09 ZNF703 8 37555950 37555950 + Missense_Mutation SNP G A g.chr8:37555950G>A c.1531G>A p.A511T TCGA-3X-AAVE-01A-11D-A417-09 ZNF709 19 12575678 12575678 + Missense_Mutation SNP C T g.chr19:12575678C>T c.1058G>A p.R353K TCGA-ZH-A8Y8-01A-51D-A417-09 ZNF716 7 57528453 57528453 + Missense_Mutation SNP G T g.chr7:57528453G>T c.286G>T p.D96Y TCGA-W5-AA30-01A-31D-A417-09 ZNF720 16 31734032 31734052 + In_Frame_Del DEL GGGATGTGATGTTAGAGAACT - g.chr16:31734032_31734052delGGGATGTGATGTTAGAGAACT c.89_109delGGGATGTGATGTTAGAGAACT p.30_37GDVMLENY>D TCGA-W5-AA39-01A-11D-A417-09 ZNF721 4 435664 435674 + Frame_Shift_Del DEL GGGTTTCTCTC - g.chr4:435664_435674delGGGTTTCTCTC c.2546_2556delGAGAGAAACCC p.GEKP849fs TCGA-W5-AA39-01A-11D-A417-09 ZNF736 7 63809199 63809199 + Missense_Mutation SNP A C g.chr7:63809199A>C c.958A>C p.K320Q TCGA-ZU-A8S4-01A-11D-A417-09 ZNF74 22 20760929 20760929 + Missense_Mutation SNP G A g.chr22:20760929G>A c.1606G>A p.A536T TCGA-W5-AA39-01A-11D-A417-09 ZNF750 17 80788577 80788577 + Missense_Mutation SNP G T g.chr17:80788577G>T c.1613C>A p.A538E TCGA-W5-AA2O-01A-11D-A417-09 ZNF761 19 53958982 53958982 + RNA SNP G T g.chr19:53958982G>T TCGA-3X-AAVC-01A-21D-A417-09 ZNF766 19 52793998 52793998 + Missense_Mutation SNP G T g.chr19:52793998G>T c.954G>T p.W318C TCGA-W5-AA2Z-01A-11D-A417-09 ZNF770 15 35274078 35274078 + Silent SNP T G g.chr15:35274078T>G c.1558A>C p.R520R TCGA-W5-AA39-01A-11D-A417-09 ZNF780B 19 40540576 40540576 + Silent SNP G A g.chr19:40540576G>A c.2190C>T p.C730C TCGA-ZH-A8Y4-01A-11D-A417-09 ZNF786 7 148769283 148769283 + Missense_Mutation SNP T G g.chr7:148769283T>G c.581A>C p.E194A TCGA-ZH-A8Y4-01A-11D-A417-09 ZNF791 19 12739912 12739912 + Silent SNP C A g.chr19:12739912C>A c.1569C>A p.P523P TCGA-W5-AA2H-01A-31D-A417-09 ZNF792 19 35450228 35450228 + Silent SNP C T g.chr19:35450228C>T c.531G>A p.R177R TCGA-ZH-A8Y8-01A-51D-A417-09 ZNF804A 2 185802286 185802286 + Silent SNP T A g.chr2:185802286T>A c.2163T>A p.T721T TCGA-4G-AAZO-01A-12D-A417-09 ZNF821 16 71894451 71894451 + Missense_Mutation SNP C T g.chr16:71894451C>T c.709G>A p.V237M TCGA-3X-AAVA-01A-11D-A417-09 ZNF821 16 71894006 71894006 + Missense_Mutation SNP T C g.chr16:71894006T>C c.1154A>G p.Q385R TCGA-W5-AA2G-01A-11D-A417-09 ZNF828 13 115089740 115089740 + Missense_Mutation SNP G C g.chr13:115089740G>C c.423G>C p.L141F TCGA-W5-AA30-01A-31D-A417-09 ZNF828 13 115090640 115090640 + Missense_Mutation SNP A C g.chr13:115090640A>C c.1323A>C p.K441N TCGA-W5-AA39-01A-11D-A417-09 ZNF829 19 37382535 37382535 + Silent SNP C A g.chr19:37382535C>A c.1158G>T p.G386G TCGA-ZH-A8Y2-01A-11D-A417-09 ZNF831 20 57766888 57766888 + Missense_Mutation SNP G A g.chr20:57766888G>A c.814G>A p.A272T TCGA-3X-AAVA-01A-11D-A417-09 ZNF831 20 57769548 57769548 + Silent SNP G A g.chr20:57769548G>A c.3474G>A p.T1158T TCGA-W5-AA2T-01A-12D-A417-09 ZNF839 14 102800960 102800960 + Missense_Mutation SNP G A g.chr14:102800960G>A c.1138G>A p.V380M TCGA-W5-AA2W-01A-11D-A417-09 ZNF839 14 102800980 102800980 + Missense_Mutation SNP G T g.chr14:102800980G>T c.1158G>T p.M386I TCGA-W5-AA39-01A-11D-A417-09 ZNF846 19 9869374 9869374 + Missense_Mutation SNP G T g.chr19:9869374G>T c.379C>A p.P127T TCGA-ZH-A8Y4-01A-11D-A417-09 ZNF85 19 21131993 21131993 + Missense_Mutation SNP A G g.chr19:21131993A>G c.673A>G p.T225A TCGA-W5-AA2O-01A-11D-A417-09 ZNF85 19 21132556 21132556 + Silent SNP C A g.chr19:21132556C>A c.1236C>A p.T412T TCGA-ZH-A8Y5-01A-11D-A417-09 ZNF91 19 23544197 23544197 + Silent SNP T C g.chr19:23544197T>C c.1584A>G p.R528R TCGA-W5-AA39-01A-11D-A417-09 ZNF91 19 23544752 23544752 + Missense_Mutation SNP A C g.chr19:23544752A>C c.1029T>G p.I343M TCGA-W5-AA39-01A-11D-A417-09 ZNF98 19 22574573 22574573 + Silent SNP C T g.chr19:22574573C>T c.1464G>A p.K488K TCGA-ZD-A8I3-01A-11D-A417-09 ZNF98 19 22586259 22586259 + Missense_Mutation SNP C T g.chr19:22586259C>T c.86G>A p.C29Y TCGA-ZH-A8Y2-01A-11D-A417-09 ZNF99 19 22952120 22952120 + Silent SNP A G g.chr19:22952120A>G c.10T>C p.L4L TCGA-4G-AAZT-01A-11D-A417-09 ZNF99 19 22940945 22940945 + Missense_Mutation SNP C A g.chr19:22940945C>A c.1766G>T p.G589V TCGA-W5-AA38-01A-11D-A417-09 ZNF99 19 22940952 22940952 + Missense_Mutation SNP G T g.chr19:22940952G>T c.1759C>A p.H587N TCGA-W5-AA38-01A-11D-A417-09 ZNRF3 22 29440787 29440787 + Missense_Mutation SNP A G g.chr22:29440787A>G c.653A>G p.D218G TCGA-W5-AA39-01A-11D-A417-09 ZNRF3 22 29445659 29445659 + Missense_Mutation SNP G A g.chr22:29445659G>A c.1490G>A p.R497H TCGA-ZU-A8S4-01A-11D-A417-09 ZP1 11 60638604 60638604 + Missense_Mutation SNP G T g.chr11:60638604G>T c.1001G>T p.G334V TCGA-W5-AA31-01A-11D-A417-09 ZP4 1 238048735 238048735 + Missense_Mutation SNP G T g.chr1:238048735G>T c.1116C>A p.S372R TCGA-3X-AAVB-01A-31D-A417-09 ZPBP2 17 38028702 38028702 + Missense_Mutation SNP G C g.chr17:38028702G>C c.586G>C p.E196Q TCGA-W5-AA38-01A-11D-A417-09 ZSCAN1 19 58549386 58549386 + Missense_Mutation SNP C T g.chr19:58549386C>T c.182C>T p.T61M TCGA-ZH-A8Y4-01A-11D-A417-09 ZSCAN16 6 28094609 28094609 + Missense_Mutation SNP C A g.chr6:28094609C>A c.436C>A p.P146T TCGA-W5-AA2X-01A-11D-A417-09 ZSCAN18 19 58596277 58596277 + Silent SNP G A g.chr19:58596277G>A c.1308C>T p.G436G TCGA-YR-A95A-01A-12D-A417-09 ZSCAN2 15 85164298 85164298 + Missense_Mutation SNP C T g.chr15:85164298C>T c.872C>T p.A291V TCGA-W5-AA2U-01A-11D-A417-09 ZSWIM3 20 44506452 44506452 + Missense_Mutation SNP T G g.chr20:44506452T>G c.1255T>G p.F419V TCGA-W5-AA39-01A-11D-A417-09 ZSWIM5 1 45500112 45500112 + Missense_Mutation SNP G T g.chr1:45500112G>T c.2321C>A p.A774E TCGA-W5-AA2Q-01A-11D-A417-09 ZUFSP 6 116957009 116957009 + Missense_Mutation SNP C T g.chr6:116957009C>T c.1723G>A p.E575K TCGA-3X-AAV9-01A-72D-A417-09 ZXDC 3 126160731 126160731 + Missense_Mutation SNP G T g.chr3:126160731G>T c.2271C>A p.F757L TCGA-W5-AA2T-01A-12D-A417-09 ZYX 7 143079401 143079401 + Missense_Mutation SNP G A g.chr7:143079401G>A c.269G>A p.G90E TCGA-W5-AA33-01A-11D-A417-09 ZYX 7 143080207 143080207 + Missense_Mutation SNP A C g.chr7:143080207A>C c.815A>C p.K272T TCGA-ZH-A8Y4-01A-11D-A417-09