Annotation Summary for Cell Line: SNU-407  

Cell line primary name: SNU-407
Cell line aliases: NCI-SNU-407
Gender: M
Site Primary: large_intestine
Histology: carcinoma
Hist Subtype1: NS
Notes:
Source: KCLB
Expression arrays: GILDS_p_NCLE_RNA11_Redo_HG-U133_Plus_2_A05_587552
SNP arrays: QUAFF_p_NCLE_DNAAffy12_GenomeWideSNP_6_B02_592734
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SNU-407

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ABI1 10 27037488 27037488 SNU407_LARGE_IN... 37 3'UTR Del A - rs75446996 uc001isx.2 ABI1_uc001ite.2... Hybrid_Cap...
ABI1 p.D147Y 10 27066017 27066017 SNU407_LARGE_IN... 37 Missense_Mutation SNP C A uc001isx.2 ABI1_uc001ite.2... Hybrid_Cap... view
ABL2 1 179086420 179086420 SNU407_LARGE_IN... 37 Intron Del A - uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap...
ACVR1 p.V234M 2 158626970 158626970 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc002tzm.3 ACVR1_uc002tzn.... Hybrid_Cap... view
ACVR1B p.I144del 12 52370198 52370200 SNU407_LARGE_IN... 37 In_Frame_Del Del TCA - uc010snn.1 ACVR1B_uc001rzl... Hybrid_Cap...
ACVR2A p.K435fs 2 148683686 148683686 SNU407_LARGE_IN... 37 Frame_Shift_Del Del A - uc002twg.2 ACVR2A_uc010zbn... Hybrid_Cap...
ADAM28 8 24211994 24211997 SNU407_LARGE_IN... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM32 p.Q386fs 8 39068767 39068767 SNU407_LARGE_IN... 37 Frame_Shift_Del Del A - uc003xmt.3 ADAM32_uc011lch... Hybrid_Cap...
ADAMTS18 p.N451S 16 77389945 77389945 SNU407_LARGE_IN... 37 Missense_Mutation SNP T C uc002ffc.3 ADAMTS18_uc010c... Hybrid_Cap... view
ADAMTS20 p.Y1614F 12 43771322 43771322 SNU407_LARGE_IN... 37 Missense_Mutation SNP T A uc010skx.1 Hybrid_Cap... view
ADAMTSL3 p.R1679C 15 84706517 84706517 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc002bjz.3 ADAMTSL3_uc010b... Hybrid_Cap... view
AIFM1 p.R358Q X 129271055 129271055 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc004evg.2 AIFM1_uc011mur.... Hybrid_Cap... view
AKAP9 7 91718853 91718853 SNU407_LARGE_IN... 37 Intron SNP A G uc003ulg.2 AKAP9_uc003ulf.... Hybrid_Cap... view
ARHGAP29 1 94643144 94643144 SNU407_LARGE_IN... 37 Intron Del T - uc001dqj.3 ARHGAP29_uc009w... Hybrid_Cap...
ARHGEF7 13 111955568 111955568 SNU407_LARGE_IN... 37 3'UTR SNP G A uc010tjo.1 ARHGEF7_uc001vr... Hybrid_Cap... view
ATIC p.V268D 2 216197219 216197219 SNU407_LARGE_IN... 37 Missense_Mutation SNP T A uc002vex.3 ATIC_uc010zjo.1... Hybrid_Cap... view
ATP11A p.R1098W 13 113530220 113530220 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc001vsj.3 ATP11A_uc001vsi... Hybrid_Cap... view
ATP8B1 p.F529del 18 55351309 55351311 SNU407_LARGE_IN... 37 In_Frame_Del Del AAG - uc002lgw.2 Hybrid_Cap...
ATRX p.K1169del X 76937241 76937243 SNU407_LARGE_IN... 37 In_Frame_Del Del CTT - uc004ecp.3 ATRX_uc004ecq.3... Hybrid_Cap...
AURKC 19 57742494 57742507 SNU407_LARGE_IN... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
AXIN1 16 337965 337965 SNU407_LARGE_IN... 37 3'UTR Del C - uc002cgp.1 AXIN1_uc002cgq.... Hybrid_Cap...
AXL 19 41749622 41749622 SNU407_LARGE_IN... 37 Intron SNP C A uc010ehj.2 CYP2F1_uc010xvw... Hybrid_Cap... view
BAI3 p.Y1012C 6 70037781 70037781 SNU407_LARGE_IN... 37 Missense_Mutation SNP A G uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BCL11B p.T450M 14 99641824 99641824 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc001yga.2 BCL11B_uc001ygb... Hybrid_Cap... view
BCL9 p.P61T 1 147084809 147084809 SNU407_LARGE_IN... 37 Missense_Mutation SNP C A uc001epq.2 BCL9_uc010ozr.1... Hybrid_Cap... view
BIRC5 p.A151V 17 76219589 76219589 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc002jvf.2 BIRC5_uc002jvg.... Hybrid_Cap... view
BLNK 10 97951715 97951715 SNU407_LARGE_IN... 37 3'UTR Del T - uc001kls.3 BLNK_uc001kme.3... Hybrid_Cap...
BMPR2 p.A235fs 2 203383628 203383628 SNU407_LARGE_IN... 37 Frame_Shift_Del Del A - uc002uzf.3 BMPR2_uc010ftr.... Hybrid_Cap...
BMPR2 p.E581fs 2 203420130 203420130 SNU407_LARGE_IN... 37 Frame_Shift_Del Del A - uc002uzf.3 BMPR2_uc010ftr.... Hybrid_Cap...
BRAF p.R726C 7 140434522 140434522 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc003vwc.3 Hybrid_Cap... view
BRCA2 p.G602fs 13 32907421 32907421 SNU407_LARGE_IN... 37 Frame_Shift_Del Del A - uc001uub.1 BRCA2_uc001uua.... Hybrid_Cap...
BTG1 12 92537707 92537708 SNU407_LARGE_IN... 37 3'UTR Del TT - uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
BTRC p.P592fs 10 103310573 103310573 SNU407_LARGE_IN... 37 Frame_Shift_Del Del C - uc001kta.2 BTRC_uc001ktb.2... Hybrid_Cap...
CABC1 1 227171736 227171736 SNU407_LARGE_IN... 37 Intron Del G - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CACNB2 10 18828670 18828675 SNU407_LARGE_IN... 37 3'UTR Del TTTTT... - rs58830289;rs76261334 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMKV p.E279D 3 49897921 49897921 SNU407_LARGE_IN... 37 Missense_Mutation SNP C A rs56071455 uc003cxt.1 CAMKV_uc011bcy.... Hybrid_Cap... view
CAMKV p.N145N 3 49898878 49898878 SNU407_LARGE_IN... 37 Silent SNP A G uc003cxt.1 CAMKV_uc011bcy.... Hybrid_Cap... view
CCNE1 p.R374* 19 30314571 30314571 SNU407_LARGE_IN... 37 Nonsense_Mutation SNP C T uc002nsn.2 CCNE1_uc002nso.... Hybrid_Cap... view
CD160 1 145696644 145696644 SNU407_LARGE_IN... 37 Intron SNP G A uc001eol.1 NBPF10_uc001emp... Hybrid_Cap... view
CDC42BPB p.N918fs 14 103429465 103429466 SNU407_LARGE_IN... 37 Frame_Shift_Ins Ins - T uc001ymi.1 CDC42BPB_uc001y... Hybrid_Cap...
CDC42BPB p.F342fs 14 103447224 103447224 SNU407_LARGE_IN... 37 Frame_Shift_Del Del A - uc001ymi.1 Hybrid_Cap...
CDC7 p.K190fs 1 91977476 91977476 SNU407_LARGE_IN... 37 Frame_Shift_Del Del A - uc001doe.2 CDC7_uc001dof.2... Hybrid_Cap...
CDK11B 1 1654066 1654068 SNU407_LARGE_IN... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK18 p.H293Y 1 205496979 205496979 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc001hcr.2 CDK18_uc001hcp.... Hybrid_Cap... view
CDK5 7 150754961 150754961 SNU407_LARGE_IN... 37 5'UTR SNP G C uc003wir.1 CDK5_uc003wis.1... Hybrid_Cap... view
CEP110 p.Y350C 9 123874783 123874783 SNU407_LARGE_IN... 37 Missense_Mutation SNP A G uc004bkx.1 CEP110_uc004bkw... Hybrid_Cap... view
CEP110 p.Q741E 9 123900841 123900841 SNU407_LARGE_IN... 37 Missense_Mutation SNP C G uc004bkx.1 CEP110_uc004bky... Hybrid_Cap... view
CHD8 14 21853630 21853634 SNU407_LARGE_IN... 37 3'UTR Del TTTTT - rs78520772;rs78304393 uc001was.1 CHD8_uc001war.1... Hybrid_Cap...
CHD8 p.K1380N 14 21866056 21866056 SNU407_LARGE_IN... 37 Missense_Mutation SNP C A uc001was.1 CHD8_uc001war.1... Hybrid_Cap... view
CHEK2 p.R223Y 22 29121018 29121019 SNU407_LARGE_IN... 37 Missense_Mutation DNP CG TA rs77130927 uc003adt.1 CHEK2_uc003ads.... Hybrid_Cap...
CHRNA5 p.D211fs 15 78882366 78882366 SNU407_LARGE_IN... 37 Frame_Shift_Del Del T - uc002bdy.2 CHRNA5_uc002bdz... Hybrid_Cap...
CHRNA5 15 78885615 78885616 SNU407_LARGE_IN... 37 3'UTR Ins - TA rs72534078 uc002bdy.2 CHRNA3_uc002bea... Hybrid_Cap...
CIC p.R1171Q 19 42797150 42797150 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc002otf.1 Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 SNU407_LARGE_IN... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN1 p.A728T 12 41408098 41408098 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc001rmm.1 CNTN1_uc001rmn.... Hybrid_Cap... view
CNTN5 p.T683T 11 100126535 100126535 SNU407_LARGE_IN... 37 Silent SNP C T uc001pga.2 CNTN5_uc001pfz.... Hybrid_Cap... view
CNTN6 3 1339681 1339686 SNU407_LARGE_IN... 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CNTN6 3 1445212 1445212 SNU407_LARGE_IN... 37 3'UTR Del A - rs74788015 uc003boz.2 CNTN6_uc011asj.... Hybrid_Cap...
CPNE5 p.V236M 6 36742769 36742769 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc003omr.1 CPNE5_uc003oms.... Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 SNU407_LARGE_IN... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CSMD3 p.F2953L 8 113303856 113303856 SNU407_LARGE_IN... 37 Missense_Mutation SNP A G uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSNK1G3 5 122881285 122881285 SNU407_LARGE_IN... 37 5'UTR SNP T C uc003ktl.2 CSNK1G3_uc003kt... Hybrid_Cap... view
CTBP2 p.K974fs 10 126678123 126678123 SNU407_LARGE_IN... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CTNNB1 p.T41A 3 41266124 41266124 SNU407_LARGE_IN... 37 Missense_Mutation SNP A G uc010hia.1 CTNNB1_uc003ckp... Hybrid_Cap... view
CUBN p.Q3334H 10 16882359 16882359 SNU407_LARGE_IN... 37 Missense_Mutation SNP C A uc001ioo.2 Hybrid_Cap... view
CUBN p.P1425fs 10 17032408 17032408 SNU407_LARGE_IN... 37 Frame_Shift_Del Del G - uc001ioo.2 Hybrid_Cap...
CUBN p.R651G 10 17127755 17127755 SNU407_LARGE_IN... 37 Missense_Mutation SNP G C rs117275869 uc001ioo.2 Hybrid_Cap... view
CXCR2 p.T237M 2 219000234 219000234 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc002vgz.1 CXCR2_uc002vha.... Hybrid_Cap... view
CXCR4 p.R34H 2 136873409 136873409 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc002tuy.2 CXCR4_uc010fnk.... Hybrid_Cap... view
CYFIP1 p.C428W 15 22947011 22947011 SNU407_LARGE_IN... 37 Missense_Mutation SNP C G uc001yus.2 CYFIP1_uc001yut... Hybrid_Cap... view
CYP1A2 p.R90C 15 75042347 75042347 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc002ayr.1 Hybrid_Cap... view
CYP2B6 p.E445K 19 41522589 41522589 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc002opr.1 CYP2A7_uc002opo... Hybrid_Cap... view
DAB1 p.S445G 1 57480667 57480667 SNU407_LARGE_IN... 37 Missense_Mutation SNP T C uc001cys.1 DAB1_uc001cyt.1... Hybrid_Cap... view
DCLK3 p.V466I 3 36778755 36778755 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc003cgi.2 Hybrid_Cap... view
DDIT3 12 57910481 57910481 SNU407_LARGE_IN... 37 3'UTR SNP G A uc009zps.2 MARS_uc001sof.1... Hybrid_Cap... view
DDX6 11 118629614 118629614 SNU407_LARGE_IN... 37 Intron Del G - uc001pub.2 DDX6_uc001pua.2... Hybrid_Cap...
DIP2C p.G226C 10 465068 465068 SNU407_LARGE_IN... 37 Missense_Mutation SNP C A uc001ifp.2 Hybrid_Cap... view
DLC1 p.N855S 8 12957282 12957282 SNU407_LARGE_IN... 37 Missense_Mutation SNP T C uc003wwm.2 DLC1_uc003wwk.1... Hybrid_Cap... view
DNAH8 p.R2282H 6 38841028 38841028 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc003ooe.1 Hybrid_Cap... view
DNMT3B 20 31395721 31395721 SNU407_LARGE_IN... 37 3'UTR Del C - uc002wyc.2 DNMT3B_uc002wyd... Hybrid_Cap...
DOCK3 p.T1850fs 3 51417604 51417604 SNU407_LARGE_IN... 37 Frame_Shift_Del Del C - uc011bds.1 Hybrid_Cap...
DPYD p.E415* 1 98039412 98039412 SNU407_LARGE_IN... 37 Nonsense_Mutation SNP C A uc001drv.2 Hybrid_Cap... view
DST p.M3137I 6 56417822 56417822 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DVL1 p.R150H 1 1277450 1277450 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc001aer.3 DVL1_uc002quu.2... Hybrid_Cap... view
EGFR p.V292M 7 55221830 55221830 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc003tqk.2 EGFR_uc003tqh.2... Hybrid_Cap... view
EGFR p.G983_splice 7 55268879 55268880 SNU407_LARGE_IN... 37 Splice_Site_Ins Ins - G uc003tqk.2 EGFR_uc010kzg.1... Hybrid_Cap...
EHBP1 p.R441* 2 63169883 63169883 SNU407_LARGE_IN... 37 Nonsense_Mutation SNP C T uc002sby.2 EHBP1_uc010fcp.... Hybrid_Cap... view
EIF2AK4 p.C521R 15 40265116 40265116 SNU407_LARGE_IN... 37 Missense_Mutation SNP T C uc001zkm.1 EIF2AK4_uc001zk... Hybrid_Cap... view
EIF4G1 p.Y1521C 3 184049797 184049797 SNU407_LARGE_IN... 37 Missense_Mutation SNP A G uc010hxx.2 EIF4G1_uc003fnp... Hybrid_Cap... view
ELAVL1 p.H170Y 19 8032597 8032597 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc002mjb.2 Hybrid_Cap... view
EP300 p.G181V 22 41513638 41513638 SNU407_LARGE_IN... 37 Missense_Mutation SNP G T uc003azl.3 Hybrid_Cap... view
EPHA2 p.P499T 1 16461618 16461618 SNU407_LARGE_IN... 37 Missense_Mutation SNP G T uc001aya.1 Hybrid_Cap... view
EPHA6 p.V644M 3 97194231 97194231 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc010how.1 EPHA6_uc011bgo.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 SNU407_LARGE_IN... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA7 p.M978V 6 93953209 93953209 SNU407_LARGE_IN... 37 Missense_Mutation SNP T C uc003poe.2 EPHA7_uc003pof.... Hybrid_Cap... view
EPHA8 p.R91Q 1 22902822 22902822 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc001bfx.1 EPHA8_uc001bfw.... Hybrid_Cap... view
EPHA8 p.R624C 1 22923909 22923909 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc001bfx.1 Hybrid_Cap... view
EPHB1 p.V648M 3 134911477 134911477 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc003eqt.2 EPHB1_uc003equ.... Hybrid_Cap... view
EPHB2 p.V465M 1 23208941 23208941 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc009vqj.1 EPHB2_uc001bge.... Hybrid_Cap... view
EPHB6 p.G251fs 7 142562309 142562309 SNU407_LARGE_IN... 37 Frame_Shift_Del Del G - uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap...
EPO p.A151E 7 100320626 100320626 SNU407_LARGE_IN... 37 Missense_Mutation SNP C A uc003uwi.2 EPO_uc011kkc.1_... Hybrid_Cap... view
ERBB3 p.V104M 12 56478854 56478854 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap... view
ERBB3 p.P262H 12 56481857 56481857 SNU407_LARGE_IN... 37 Missense_Mutation SNP C A uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap... view
ERBB4 p.R1250W 2 212248519 212248519 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc002veg.1 ERBB4_uc002veh.... Hybrid_Cap... view
ETV1 7 14028708 14028708 SNU407_LARGE_IN... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
ETV4 p.H358N 17 41606928 41606928 SNU407_LARGE_IN... 37 Missense_Mutation SNP G T uc002idw.2 ETV4_uc002idv.2... Hybrid_Cap... view
EXT1 p.P477fs 8 118832020 118832020 SNU407_LARGE_IN... 37 Frame_Shift_Del Del G - rs17439693 uc003yok.1 Hybrid_Cap...
EXT2 11 44266014 44266014 SNU407_LARGE_IN... 37 3'UTR SNP G T uc001mya.2 EXT2_uc010rfo.1... Hybrid_Cap... view
FAM118A p.R159W 22 45723897 45723897 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc003bfz.3 FAM118A_uc003bg... Hybrid_Cap... view
FANCC p.I89fs 9 98003011 98003011 SNU407_LARGE_IN... 37 Frame_Shift_Del Del T - uc004avh.2 FANCC_uc004avi.... Hybrid_Cap...
FANCM p.E63G 14 45605422 45605422 SNU407_LARGE_IN... 37 Missense_Mutation SNP A G uc001wwd.3 FANCM_uc001wwc.... Hybrid_Cap... view
FANCM p.Q1333fs 14 45645955 45645955 SNU407_LARGE_IN... 37 Frame_Shift_Del Del A - uc001wwd.3 FANCM_uc010anf.... Hybrid_Cap...
FAS p.C59Y 10 90762931 90762931 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc001kfr.2 FAS_uc010qna.1_... Hybrid_Cap... view
FASN p.Q1294R 17 80043599 80043599 SNU407_LARGE_IN... 37 Missense_Mutation SNP T C uc002kdu.2 FASN_uc002kdw.1... Hybrid_Cap... view
FBN2 p.N1767S 5 127644992 127644992 SNU407_LARGE_IN... 37 Missense_Mutation SNP T C uc003kuu.2 Hybrid_Cap... view
FBXW7 p.R465C 4 153249385 153249385 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc003ims.2 FBXW7_uc011cii.... Hybrid_Cap... view
FGFR1OP 6 167453520 167453520 SNU407_LARGE_IN... 37 3'UTR Del T - uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FIP1L1 4 54245170 54245170 SNU407_LARGE_IN... 37 Intron Del T - uc003gzy.2 PDGFRA_uc003haa... Hybrid_Cap...
FLI1 11 128638217 128638217 SNU407_LARGE_IN... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNA p.A1252V X 153588408 153588408 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc004fkk.2 FLNA_uc011mzn.1... Hybrid_Cap... view
FLT1 13 28903962 28903962 SNU407_LARGE_IN... 37 Intron SNP C T uc001usb.3 FLT1_uc010aaq.2... Hybrid_Cap... view
FLT4 5 180035183 180035185 SNU407_LARGE_IN... 37 Intron Del AGT - uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap...
FMN2 p.G878C 1 240370732 240370732 SNU407_LARGE_IN... 37 Missense_Mutation SNP G T uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap... view
FNBP1 9 132658079 132658079 SNU407_LARGE_IN... 37 Intron Del T - uc004byw.1 FNBP1_uc011mbv.... Hybrid_Cap...
FNBP1 p.R494C 9 132662775 132662775 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc004byw.1 FNBP1_uc011mbv.... Hybrid_Cap... view
FOXP1 3 71008342 71008344 SNU407_LARGE_IN... 37 3'UTR Del TTT - rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
FOXP1 p.R514H 3 71021817 71021817 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap... view
FPGT p.R33H 1 74665363 74665363 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc001dgb.1 LRRIQ3_uc001dfy... Hybrid_Cap... view
GPC3 X 132888208 132888208 SNU407_LARGE_IN... 37 Intron Del A - uc010nrn.1 GPC3_uc004exd.1... Hybrid_Cap...
GPHN 14 67647740 67647740 SNU407_LARGE_IN... 37 3'UTR SNP C T uc010tss.1 GPHN_uc001xix.2... Hybrid_Cap... view
GRIA3 X 122318386 122318387 SNU407_LARGE_IN... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIN2A p.T382M 16 9943796 9943796 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc002czo.3 GRIN2A_uc010uym... Hybrid_Cap... view
GRK4 p.E361fs 4 3030949 3030949 SNU407_LARGE_IN... 37 Frame_Shift_Del Del A - uc003ggn.1 GRK4_uc003ggo.1... Hybrid_Cap...
GTSE1 p.F475fs 22 46712300 46712300 SNU407_LARGE_IN... 37 Frame_Shift_Del Del T - uc011aqy.1 GTSE1_uc011aqz.... Hybrid_Cap...
GUCY2C p.I741fs 12 14781607 14781608 SNU407_LARGE_IN... 37 Frame_Shift_Ins Ins - T uc001rcd.2 Hybrid_Cap...
HAPLN1 5 82937252 82937252 SNU407_LARGE_IN... 37 3'UTR Del A - uc003kim.2 HAPLN1_uc003kin... Hybrid_Cap...
HCK p.V195M 20 30671747 30671747 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc002wxh.2 HCK_uc010gdy.2_... Hybrid_Cap... view
HDLBP 2 242192782 242192782 SNU407_LARGE_IN... 37 Intron SNP A G uc002waz.2 HDLBP_uc002wba.... Hybrid_Cap... view
HERC2 p.V177A 15 28525226 28525226 SNU407_LARGE_IN... 37 Missense_Mutation SNP A G uc001zbj.2 HERC2_uc001zbl.... Hybrid_Cap... view
HIF1A 14 62213929 62213930 SNU407_LARGE_IN... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HSP90AB1 p.V473A 6 44219577 44219577 SNU407_LARGE_IN... 37 Missense_Mutation SNP T C uc003oxa.1 HSP90AB1_uc011d... Hybrid_Cap... view
HSP90B1 p.E791del 12 104341188 104341190 SNU407_LARGE_IN... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
IGFBP5 p.R176W 2 217543614 217543614 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc002vgj.3 Hybrid_Cap... view
IL1B 2 113587877 113587877 SNU407_LARGE_IN... 37 3'UTR SNP T C uc002tii.1 IL1B_uc002tih.1... Hybrid_Cap... view
IL1RAP p.C137C 3 190326844 190326844 SNU407_LARGE_IN... 37 Silent SNP T C uc003fsq.2 IL1RAP_uc003fsk... Hybrid_Cap... view
IL1RN p.G14* 2 113877672 113877672 SNU407_LARGE_IN... 37 Nonsense_Mutation SNP G T uc002tiz.2 IL1RN_uc002tix.... Hybrid_Cap... view
ILK 11 6630029 6630029 SNU407_LARGE_IN... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INPP4B p.D358_splice 4 143129576 143129576 SNU407_LARGE_IN... 37 Splice_Site_SNP SNP A G uc003iix.3 INPP4B_uc003iiw... Hybrid_Cap... view
INSRR p.V1180M 1 156811310 156811310 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc010pht.1 NTRK1_uc001fqf.... Hybrid_Cap... view
INSRR p.R739_splice 1 156815162 156815162 SNU407_LARGE_IN... 37 Splice_Site_SNP SNP A G uc010pht.1 NTRK1_uc001fqf.... Hybrid_Cap... view
ITK p.V466A 5 156671436 156671436 SNU407_LARGE_IN... 37 Missense_Mutation SNP T C uc003lwo.1 Hybrid_Cap... view
ITPR2 p.Q1253H 12 26752962 26752962 SNU407_LARGE_IN... 37 Missense_Mutation SNP T A uc001rhg.2 Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 SNU407_LARGE_IN... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAK3 p.P996fs 19 17941419 17941420 SNU407_LARGE_IN... 37 Frame_Shift_Ins Ins - G uc002nhn.3 JAK3_uc010ebh.2... Hybrid_Cap...
KDR p.R1118Q 4 55955592 55955592 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc003has.2 KDR_uc003hat.1_... Hybrid_Cap... view
KDR p.R1066C 4 55955966 55955966 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc003has.2 KDR_uc003hat.1_... Hybrid_Cap... view
KDR p.A532V 4 55972049 55972049 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc003has.2 KDR_uc003hat.1_... Hybrid_Cap... view
KIAA1409 p.K1336fs 14 94088050 94088050 SNU407_LARGE_IN... 37 Frame_Shift_Del Del A - uc001ybv.1 KIAA1409_uc001y... Hybrid_Cap...
KIAA1409 p.G1583S 14 94088791 94088791 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc001ybv.1 KIAA1409_uc001y... Hybrid_Cap... view
KIAA1804 p.S329_splice 1 233489551 233489551 SNU407_LARGE_IN... 37 Splice_Site_SNP SNP A G uc001hvt.3 KIAA1804_uc001h... Hybrid_Cap... view
KLK7 19 51480672 51480675 SNU407_LARGE_IN... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KPNA5 6 117053521 117053521 SNU407_LARGE_IN... 37 3'UTR SNP G T uc003pxh.2 Hybrid_Cap... view
KRAS p.G12D 12 25398284 25398284 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc001rgp.1 KRAS_uc001rgq.1... Hybrid_Cap... view
KSR1 p.P152fs 17 25910016 25910016 SNU407_LARGE_IN... 37 Frame_Shift_Del Del C - uc010crg.2 KSR1_uc002gzj.1... Hybrid_Cap...
KSR1 p.P326L 17 25924382 25924382 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc010crg.2 KSR1_uc002gzj.1... Hybrid_Cap... view
KTN1 14 56150981 56150981 SNU407_LARGE_IN... 37 3'UTR Del A - uc001xcb.2 KTN1_uc001xce.2... Hybrid_Cap...
LATS2 13 21620223 21620224 SNU407_LARGE_IN... 37 5'UTR Del AA - rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LCP1 p.L269F 13 46725148 46725148 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc001vaz.3 LCP1_uc001vba.3... Hybrid_Cap... view
LMNA p.R427H 1 156106127 156106127 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc001fni.2 LMNA_uc001fnf.1... Hybrid_Cap... view
LRP1 p.P4190fs 12 57603940 57603940 SNU407_LARGE_IN... 37 Frame_Shift_Del Del C - uc001snd.2 Hybrid_Cap...
LRP1B p.D713G 2 141773317 141773317 SNU407_LARGE_IN... 37 Missense_Mutation SNP T C uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
LRRC2 p.R258_splice 3 46569072 46569072 SNU407_LARGE_IN... 37 Splice_Site_SNP SNP C A uc010hji.2 LRRC2_uc003cpu.... Hybrid_Cap... view
LRRK1 p.T1149M 15 101591922 101591923 SNU407_LARGE_IN... 37 Missense_Mutation DNP CA TG rs4965778 uc002bwr.2 LRRK1_uc010usb.... Hybrid_Cap...
LTK p.C814R 15 41796349 41796349 SNU407_LARGE_IN... 37 Missense_Mutation SNP A G uc001zoa.3 LTK_uc001zob.3_... Hybrid_Cap... view
MAML2 p.T1083M 11 95712335 95712335 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc001pfw.1 Hybrid_Cap... view
MAP2K6 17 67516341 67516341 SNU407_LARGE_IN... 37 Intron Del T - uc002jij.2 MAP2K6_uc002jii... Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 SNU407_LARGE_IN... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K14 p.A458V 17 43351878 43351878 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc002iiw.1 MAP3K14_uc002ii... Hybrid_Cap... view
MAP3K7 6 91226079 91226079 SNU407_LARGE_IN... 37 3'UTR Del A - uc003pnz.1 MAP3K7_uc003pny... Hybrid_Cap...
MAPKAPK5 12 112330883 112330884 SNU407_LARGE_IN... 37 3'UTR Ins - T uc001tta.2 MAPKAPK5_uc001t... Hybrid_Cap...
MARK2 p.S505_splice 11 63670631 63670631 SNU407_LARGE_IN... 37 Splice_Site_SNP SNP G A uc001nxw.2 MARK2_uc001nxx.... Hybrid_Cap... view
MAST2 p.G1321S 1 46500302 46500302 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc001cov.2 MAST2_uc001cow.... Hybrid_Cap... view
MCM3AP p.G491V 21 47700461 47700461 SNU407_LARGE_IN... 37 Missense_Mutation SNP C A uc002zir.1 Hybrid_Cap... view
MECOM p.K801fs 3 168833257 168833257 SNU407_LARGE_IN... 37 Frame_Shift_Del Del T - uc011bpj.1 MECOM_uc010hwk.... Hybrid_Cap...
MECOM p.Q228R 3 168845779 168845779 SNU407_LARGE_IN... 37 Missense_Mutation SNP T C uc011bpj.1 MECOM_uc010hwk.... Hybrid_Cap... view
MLL3 p.G4607V 7 151845192 151845192 SNU407_LARGE_IN... 37 Missense_Mutation SNP C A uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MLL3 p.K2797fs 7 151874148 151874148 SNU407_LARGE_IN... 37 Frame_Shift_Del Del T - uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap...
MLLT11 p.S70N 1 151039909 151039909 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc001ewq.2 Hybrid_Cap... view
MSH2 p.S281* 2 47641457 47641457 SNU407_LARGE_IN... 37 Nonsense_Mutation SNP C G rs63749991 uc002rvz.2 MSH2_uc010yoh.1... Hybrid_Cap... view
MTMR11 1 149900986 149900987 SNU407_LARGE_IN... 37 3'UTR Del AA - uc001etl.3 SF3B4_uc001etj.... Hybrid_Cap...
MTMR11 p.Y96C 1 149907230 149907230 SNU407_LARGE_IN... 37 Missense_Mutation SNP T C uc001etl.3 MTMR11_uc001etm... Hybrid_Cap... view
MYH1 p.R1836H 17 10397950 10397950 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc002gmo.2 Hybrid_Cap... view
MYH10 p.A1927T 17 8380294 8380294 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc002glm.2 MYH10_uc002gll.... Hybrid_Cap... view
MYH10 p.Q419* 17 8449885 8449885 SNU407_LARGE_IN... 37 Nonsense_Mutation SNP G A uc002glm.2 MYH10_uc002gll.... Hybrid_Cap... view
MYH9 p.A454V 22 36712581 36712581 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc003apg.2 MYH9_uc003aph.1... Hybrid_Cap... view
MYLK p.E1066del 3 123419117 123419119 SNU407_LARGE_IN... 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYO3A p.P1189fs 10 26462760 26462760 SNU407_LARGE_IN... 37 Frame_Shift_Del Del A - uc001isn.2 MYO3A_uc009xkp.... Hybrid_Cap...
MYST3 p.H1439Y 8 41791423 41791423 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc010lxb.2 MYST3_uc010lxc.... Hybrid_Cap... view
MYST3 p.S1392Y 8 41791563 41791563 SNU407_LARGE_IN... 37 Missense_Mutation SNP G T uc010lxb.2 MYST3_uc010lxc.... Hybrid_Cap... view
MYST4 p.E1104del 10 76781906 76781908 SNU407_LARGE_IN... 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
N4BP2 p.I1675T 4 40146301 40146301 SNU407_LARGE_IN... 37 Missense_Mutation SNP T C uc003guy.3 N4BP2_uc010ifq.... Hybrid_Cap... view
N4BP2 p.G1695R 4 40146360 40146360 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc003guy.3 N4BP2_uc010ifq.... Hybrid_Cap... view
NAV3 p.K687fs 12 78443808 78443808 SNU407_LARGE_IN... 37 Frame_Shift_Del Del A - uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap...
NCAM1 11 112832307 112832308 SNU407_LARGE_IN... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SNU407_LARGE_IN... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA1 p.A857V 2 24933951 24933951 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc002rfk.2 NCOA1_uc010eye.... Hybrid_Cap... view
NCOA3 20 46282351 46282351 SNU407_LARGE_IN... 37 3'UTR Del T - uc002xtk.2 NCOA3_uc002xtl.... Hybrid_Cap...
NEK8 17 27069048 27069048 SNU407_LARGE_IN... 37 3'UTR SNP C A uc002hcp.2 TRAF4_uc002hcq.... Hybrid_Cap... view
NIN p.E726G 14 51226797 51226797 SNU407_LARGE_IN... 37 Missense_Mutation SNP T C uc001wyi.2 NIN_uc001wyj.2_... Hybrid_Cap... view
NIN p.R482C 14 51233599 51233599 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc001wyi.2 NIN_uc001wyj.2_... Hybrid_Cap... view
NIPBL 5 37051862 37051862 SNU407_LARGE_IN... 37 Intron Del T - uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap...
NIPBL 5 37065069 37065070 SNU407_LARGE_IN... 37 3'UTR Ins - A rs71759480 uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap...
NLRP10 p.R497M 11 7981669 7981669 SNU407_LARGE_IN... 37 Missense_Mutation SNP C A uc001mfv.1 Hybrid_Cap... view
NOTCH1 p.A1888T 9 139395276 139395276 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc004chz.2 Hybrid_Cap... view
NPAT p.R1294C 11 108031933 108031933 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc001pjz.3 NPAT_uc010rvv.1... Hybrid_Cap... view
NPAT 11 108040773 108040773 SNU407_LARGE_IN... 37 Intron Del A - uc001pjz.3 NPAT_uc010rvv.1... Hybrid_Cap...
NPM1 5 170837734 170837734 SNU407_LARGE_IN... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 p.L1012P 1 153665585 153665585 SNU407_LARGE_IN... 37 Missense_Mutation SNP T C uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap... view
NPR2 p.R520W 9 35801923 35801923 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc003zyd.2 NPR2_uc010mlb.2... Hybrid_Cap... view
NPRL2 3 50384978 50384978 SNU407_LARGE_IN... 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 SNU407_LARGE_IN... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NTRK1 p.L26P 1 156830803 156830803 SNU407_LARGE_IN... 37 Missense_Mutation SNP T C uc001fqh.1 NTRK1_uc001fqf.... Hybrid_Cap... view
NTRK2 9 87636411 87636411 SNU407_LARGE_IN... 37 3'UTR SNP A G uc004anz.1 NTRK2_uc004aoa.... Hybrid_Cap... view
NUP214 9 134067557 134067568 SNU407_LARGE_IN... 37 Intron Del TTTTT... - uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
NUP214 p.T1355A 9 134072944 134072944 SNU407_LARGE_IN... 37 Missense_Mutation SNP A G uc004cag.2 NUP214_uc004cah... Hybrid_Cap... view
NUP98 p.V1101I 11 3723904 3723904 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc001lyh.2 NUP98_uc001lyi.... Hybrid_Cap... view
NYNRIN p.G1853R 14 24886512 24886512 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc001wpf.3 Hybrid_Cap... view
OBSCN p.V1930M 1 228462377 228462377 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
OBSCN p.A6670V 1 228557684 228557684 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc009xez.1 OBSCN_uc001hsr.... Hybrid_Cap... view
ODZ1 p.W1883C X 123525941 123525941 SNU407_LARGE_IN... 37 Missense_Mutation SNP C A uc010nqy.2 ODZ1_uc011muj.1... Hybrid_Cap... view
OLFM4 p.I216L 13 53617315 53617315 SNU407_LARGE_IN... 37 Missense_Mutation SNP A C uc001vhl.2 OLFM4_uc001vhk.... Hybrid_Cap... view
P4HB p.N387fs 17 79803764 79803764 SNU407_LARGE_IN... 37 Frame_Shift_Del Del T - uc002kbn.1 P4HB_uc002kbl.1... Hybrid_Cap...
PAFAH1B2 p.S64P 11 117031879 117031879 SNU407_LARGE_IN... 37 Missense_Mutation SNP T C uc001pqe.1 PAFAH1B2_uc009y... Hybrid_Cap... view
PAK6 p.T564fs 15 40565825 40565825 SNU407_LARGE_IN... 37 Frame_Shift_Del Del C - uc010bbl.2 PAK6_uc010bbm.2... Hybrid_Cap...
PARP1 p.M604I 1 226564938 226564938 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc001hqd.3 Hybrid_Cap... view
PAX3 2 223066017 223066018 SNU407_LARGE_IN... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223066039 223066039 SNU407_LARGE_IN... 37 Intron Del T - uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 SNU407_LARGE_IN... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PCDH15 p.V576L 10 55912933 55912933 SNU407_LARGE_IN... 37 Missense_Mutation SNP C A uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap... view
PCM1 8 17813218 17813218 SNU407_LARGE_IN... 37 Intron Del T - uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap...
PDCD11 p.A118V 10 105162993 105162993 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc001kwy.1 Hybrid_Cap... view
PDE4DIP 1 144994809 144994809 SNU407_LARGE_IN... 37 5'UTR SNP A G uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDGFA p.A167T 7 540876 540876 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc003sit.1 PDGFA_uc003sir.... Hybrid_Cap... view
PDGFRA 4 55131002 55131005 SNU407_LARGE_IN... 37 Intron Del AAAA - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PDIK1L 1 26449196 26449196 SNU407_LARGE_IN... 37 3'UTR Del T - uc010oew.1 PDIK1L_uc001blj... Hybrid_Cap...
PDZRN4 12 41831694 41831694 SNU407_LARGE_IN... 37 Intron SNP C T uc010skn.1 PDZRN4_uc001rmq... Hybrid_Cap... view
PEX5L p.A516V 3 179525591 179525591 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc003fki.1 PEX5L_uc011bqd.... Hybrid_Cap... view
PI4KA p.G258S 22 21167705 21167705 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc002zsz.3 PI4KA_uc010gsq.... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 SNU407_LARGE_IN... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3C3 p.D257fs 18 39573290 39573290 SNU407_LARGE_IN... 37 Frame_Shift_Del Del C - uc002lap.2 PIK3C3_uc010xcl... Hybrid_Cap...
PIK3CA p.H1047R 3 178952085 178952085 SNU407_LARGE_IN... 37 Missense_Mutation SNP A G uc003fjk.2 Hybrid_Cap... view
PIP5K1B p.D373_splice 9 71538216 71538216 SNU407_LARGE_IN... 37 Splice_Site_SNP SNP A G uc004agu.2 PIP5K1B_uc011lr... Hybrid_Cap... view
PKDCC p.T322A 2 42281377 42281377 SNU407_LARGE_IN... 37 Missense_Mutation SNP A G uc002rsg.2 Hybrid_Cap... view
PKN2 p.P214H 1 89237122 89237122 SNU407_LARGE_IN... 37 Missense_Mutation SNP C A uc001dmn.2 PKN2_uc001dmm.1... Hybrid_Cap... view
PLCG2 p.A927T 16 81968073 81968073 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc002fgt.2 Hybrid_Cap... view
PLCG2 p.R589C 16 81944156 81944156 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc002fgt.2 PLCG2_uc010chg.... Hybrid_Cap... view
PLK2 5 57754160 57754160 SNU407_LARGE_IN... 37 Intron Del A - uc003jrn.2 PLK2_uc011cql.1... Hybrid_Cap...
PML 15 74327823 74327823 SNU407_LARGE_IN... 37 Intron SNP T C uc002awv.2 PML_uc002awm.2_... Hybrid_Cap... view
PMS2 7 6012920 6012920 SNU407_LARGE_IN... 37 3'UTR Del T - uc003spl.2 PMS2_uc003spj.2... Hybrid_Cap...
POU5F1B p.R281H 8 128428953 128428953 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc003ysf.2 LOC727677_uc003... Hybrid_Cap... view
PPARD p.R75W 6 35387996 35387996 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc003okm.2 PPARD_uc003okl.... Hybrid_Cap... view
PPP1R3A p.N476fs 7 113519719 113519719 SNU407_LARGE_IN... 37 Frame_Shift_Del Del A - rs2974944 uc010ljy.1 Hybrid_Cap...
PRKCB p.A89T 16 23999888 23999888 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc002dme.2 PRKCB_uc002dmd.... Hybrid_Cap... view
PRKCE p.P330L 2 46231703 46231703 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc002rut.2 Hybrid_Cap... view
PRKCE p.R704Q 2 46411917 46411917 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc002rut.2 Hybrid_Cap... view
PRKCI 3 170021084 170021084 SNU407_LARGE_IN... 37 3'UTR Del A - uc003fgs.2 PRKCI_uc003fgt.... Hybrid_Cap...
PRKD1 p.R201Q 14 30132999 30132999 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc001wqh.2 Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 SNU407_LARGE_IN... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKDC p.S60fs 8 48869968 48869968 SNU407_LARGE_IN... 37 Frame_Shift_Del Del A - uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKG1 10 52751088 52751089 SNU407_LARGE_IN... 37 5'UTR Ins - GCT rs67900156;rs71029335 uc001jjm.2 PRKG1_uc010qhp.... Hybrid_Cap...
PTCH1 p.L199M 9 98244475 98244475 SNU407_LARGE_IN... 37 Missense_Mutation SNP A T uc004avk.3 PTCH1_uc010mro.... Hybrid_Cap... view
PTCH2 p.L104P 1 45297968 45297968 SNU407_LARGE_IN... 37 Missense_Mutation SNP A G rs80168454 uc010olf.1 PTCH2_uc010olg.... Hybrid_Cap... view
PTEN 10 89725294 89725294 SNU407_LARGE_IN... 37 3'UTR Del T - rs1044487 uc001kfb.2 Hybrid_Cap...
PTGS2 p.R231C 1 186645997 186645997 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc001gsb.2 PTGS2_uc009wyo.... Hybrid_Cap... view
PTK2B p.I260V 8 27288501 27288501 SNU407_LARGE_IN... 37 Missense_Mutation SNP A G uc003xfn.1 PTK2B_uc003xfo.... Hybrid_Cap... view
PTK6 20 62161351 62161351 SNU407_LARGE_IN... 37 Intron Del C - uc002yfg.2 PTK6_uc011aay.1... Hybrid_Cap...
PTPRD p.L1688M 9 8341154 8341154 SNU407_LARGE_IN... 37 Missense_Mutation SNP G T uc003zkk.2 PTPRD_uc003zkp.... Hybrid_Cap... view
PTPRT p.R1018* 20 40743943 40743943 SNU407_LARGE_IN... 37 Nonsense_Mutation SNP G A uc010ggj.2 PTPRT_uc002xkg.... Hybrid_Cap... view
PTPRT p.W219* 20 41400103 41400103 SNU407_LARGE_IN... 37 Nonsense_Mutation SNP C T uc010ggj.2 PTPRT_uc002xkg.... Hybrid_Cap... view
PXK p.R456fs 3 58395317 58395318 SNU407_LARGE_IN... 37 Frame_Shift_Ins Ins - A uc003djz.1 PXK_uc003djx.1_... Hybrid_Cap...
RABEP1 p.R30H 17 5212043 5212043 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc002gbm.3 RABEP1_uc010clc... Hybrid_Cap... view
RAD51 15 40998408 40998408 SNU407_LARGE_IN... 37 Intron SNP A G uc010bbx.2 RAD51_uc001zmi.... Hybrid_Cap... view
RAGE p.I105fs 14 102718303 102718303 SNU407_LARGE_IN... 37 Frame_Shift_Del Del T - uc001ylm.2 RAGE_uc010txv.1... Hybrid_Cap...
RARB p.G97G 3 25502796 25502796 SNU407_LARGE_IN... 37 Silent SNP G A rs116825683 uc011awl.1 RARB_uc003cdi.1... Hybrid_Cap... view
RBBP8 p.K355fs 18 20572853 20572853 SNU407_LARGE_IN... 37 Frame_Shift_Del Del A - uc002kua.2 RBBP8_uc002ktw.... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 SNU407_LARGE_IN... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RGL1 p.Q616fs 1 183881394 183881395 SNU407_LARGE_IN... 37 Frame_Shift_Ins Ins - A uc001gqm.2 RGL1_uc010pof.1... Hybrid_Cap...
RGL2 p.R337H 6 33263295 33263295 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T rs61758744 uc003odv.2 RGL2_uc003odu.2... Hybrid_Cap... view
RGL2 p.G203fs 6 33263964 33263965 SNU407_LARGE_IN... 37 Frame_Shift_Ins Ins - C uc003odv.2 RGL2_uc003odu.2... Hybrid_Cap...
RGS22 p.R867H 8 101016181 101016181 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc003yjb.1 RGS22_uc003yja.... Hybrid_Cap... view
RHPN2 p.A252T 19 33498926 33498926 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc002nuf.2 RHPN2_uc010xro.... Hybrid_Cap... view
RIF1 p.P363S 2 152291986 152291986 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc002txm.2 RIF1_uc002txl.2... Hybrid_Cap... view
RIPK1 6 3077012 3077012 SNU407_LARGE_IN... 37 5'UTR Del G - uc010jni.2 RIPK1_uc003muv.... Hybrid_Cap...
RNASEL p.R80H 1 182555703 182555703 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc001gpj.1 RNASEL_uc009wxz... Hybrid_Cap... view
RNASEL p.A308V 1 182555019 182555019 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc001gpj.1 RNASEL_uc009wxz... Hybrid_Cap... view
ROBO2 3 77666937 77666937 SNU407_LARGE_IN... 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
ROCK1 p.K1307fs 18 18533679 18533679 SNU407_LARGE_IN... 37 Frame_Shift_Del Del T - uc002kte.2 Hybrid_Cap...
ROCK1 p.I1150fs 18 18539865 18539865 SNU407_LARGE_IN... 37 Frame_Shift_Del Del T - uc002kte.2 Hybrid_Cap...
ROCK2 p.R1380* 2 11332299 11332299 SNU407_LARGE_IN... 37 Nonsense_Mutation SNP G A uc002rbd.1 Hybrid_Cap... view
ROCK2 p.W138fs 2 11389837 11389837 SNU407_LARGE_IN... 37 Frame_Shift_Del Del A - uc002rbd.1 Hybrid_Cap...
RPL22 p.K15fs 1 6257785 6257785 SNU407_LARGE_IN... 37 Frame_Shift_Del Del T - uc001amd.2 RPL22_uc001ame.... Hybrid_Cap...
RPTOR 17 78519274 78519275 SNU407_LARGE_IN... 37 5'UTR Del TT - uc002jyt.1 RPTOR_uc002jys.... Hybrid_Cap...
RRM2 p.A296T 2 10269062 10269062 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc002rah.2 Hybrid_Cap... view
RRM2 2 10269545 10269545 SNU407_LARGE_IN... 37 3'UTR Del T - rs79162203 uc002rah.2 Hybrid_Cap...
SACS 13 23904255 23904255 SNU407_LARGE_IN... 37 3'UTR Del T - uc001uon.2 SACS_uc001uoo.2... Hybrid_Cap...
SBK2 p.R313fs 19 56041210 56041210 SNU407_LARGE_IN... 37 Frame_Shift_Del Del G - uc010ygc.1 Hybrid_Cap...
SCARA5 8 27729307 27729307 SNU407_LARGE_IN... 37 3'UTR SNP G A uc003xgj.2 SCARA5_uc010luz... Hybrid_Cap... view
SCRIB p.P1341fs 8 144875032 144875032 SNU407_LARGE_IN... 37 Frame_Shift_Del Del G - uc003yzo.1 SCRIB_uc003yzn.... Hybrid_Cap...
SCYL3 1 169822800 169822801 SNU407_LARGE_IN... 37 3'UTR Ins - T uc001ggs.2 SCYL3_uc010plw.... Hybrid_Cap...
SEPT3 22 42390746 42390746 SNU407_LARGE_IN... 37 Intron SNP G A uc003bbr.3 WBP2NL_uc011ape... Hybrid_Cap... view
SEPT6 p.S441F X 118763329 118763329 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc011mtw.1 SEPT6_uc010nqk.... Hybrid_Cap... view
SGK1 6 134495866 134495866 SNU407_LARGE_IN... 37 Intron SNP T C uc003qeo.3 SGK1_uc011ect.1... Hybrid_Cap... view
SGK196 p.T146N 8 42977404 42977404 SNU407_LARGE_IN... 37 Missense_Mutation SNP C A uc003xpw.2 Hybrid_Cap... view
SGK223 p.R1270C 8 8176077 8176077 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A rs115837967 uc003wsh.3 Hybrid_Cap... view
SMAD7 p.P209fs 18 46474795 46474795 SNU407_LARGE_IN... 37 Frame_Shift_Del Del G - uc002ldg.2 SMAD7_uc010xde.... Hybrid_Cap...
SMARCA4 p.Y507H 19 11105603 11105603 SNU407_LARGE_IN... 37 Missense_Mutation SNP T C uc010dxo.2 SMARCA4_uc002mq... Hybrid_Cap... view
SMARCA4 p.M1109V 19 11138569 11138569 SNU407_LARGE_IN... 37 Missense_Mutation SNP A G uc010dxo.2 SMARCA4_uc002mq... Hybrid_Cap... view
SMURF1 p.R660Q 7 98633248 98633248 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc003upu.1 SMURF1_uc003upv... Hybrid_Cap... view
SORL1 p.L2102fs 11 121495926 121495927 SNU407_LARGE_IN... 37 Frame_Shift_Ins Ins - T uc001pxx.2 SORL1_uc010rzp.... Hybrid_Cap...
SP140 p.K670fs 2 231159025 231159025 SNU407_LARGE_IN... 37 Frame_Shift_Del Del A - uc002vql.2 SP140_uc010zma.... Hybrid_Cap...
SRPK1 6 35802955 35802955 SNU407_LARGE_IN... 37 3'UTR Del A - uc003olj.2 SRPK1_uc011dtg.... Hybrid_Cap...
STAG3 p.P69Q 7 99779802 99779802 SNU407_LARGE_IN... 37 Missense_Mutation SNP C A uc003utx.1 STAG3_uc010lgs.... Hybrid_Cap... view
STAT3 p.E616del 17 40475061 40475063 SNU407_LARGE_IN... 37 In_Frame_Del Del CTT - uc002hzl.1 STAT3_uc002hzk.... Hybrid_Cap...
STAT5A p.R673H 17 40460307 40460307 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc002hzj.1 STAT5A_uc010cya... Hybrid_Cap... view
STAT5B p.G576S 17 40362470 40362470 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc002hzh.2 Hybrid_Cap... view
STK31 7 23872024 23872025 SNU407_LARGE_IN... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STK35 p.L440M 20 2097737 2097737 SNU407_LARGE_IN... 37 Missense_Mutation SNP C A uc010gak.2 STK35_uc010zpu.... Hybrid_Cap... view
STK38 p.F382fs 6 36465583 36465583 SNU407_LARGE_IN... 37 Frame_Shift_Del Del A - uc003omg.2 STK38_uc003omh.... Hybrid_Cap...
SULF1 p.A453V 8 70517148 70517148 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc010lza.1 SULF1_uc003xyd.... Hybrid_Cap... view
SULF2 p.M71V 20 46365651 46365651 SNU407_LARGE_IN... 37 Missense_Mutation SNP T C uc002xto.2 SULF2_uc002xtr.... Hybrid_Cap... view
SUZ12 p.T354A 17 30315375 30315375 SNU407_LARGE_IN... 37 Missense_Mutation SNP A G uc002hgs.2 SUZ12_uc002hgt.... Hybrid_Cap... view
SUZ12 p.S382fs 17 30315461 30315462 SNU407_LARGE_IN... 37 Frame_Shift_Del Del AG - uc002hgs.2 SUZ12_uc002hgt.... Hybrid_Cap...
SYK 9 93629545 93629545 SNU407_LARGE_IN... 37 Intron SNP G A uc004aqz.2 SYK_uc004aqy.2_... Hybrid_Cap... view
TAF1 p.C1288R X 70621393 70621393 SNU407_LARGE_IN... 37 Missense_Mutation SNP T C uc004dzt.3 BCYRN1_uc011mpt... Hybrid_Cap... view
TAF1L p.R1252W 9 32631824 32631824 SNU407_LARGE_IN... 37 Missense_Mutation SNP G A uc003zrg.1 Hybrid_Cap... view
TAF1L p.S859N 9 32633002 32633002 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc003zrg.1 Hybrid_Cap... view
TAF1L p.R636H 9 32633671 32633671 SNU407_LARGE_IN... 37 Missense_Mutation SNP C T uc003zrg.1 Hybrid_Cap... view
TAOK3 12 118588762 118588768 SNU407_LARGE_IN... 37 3'UTR Del TTTTT... - uc001twx.2 TAOK3_uc001twv.... Hybrid_Cap...