Annotation Summary for Cell Line: H4  

Cell line primary name: H4
Cell line aliases:
Gender: M
Site Primary: central_nervous_system
Histology: glioma
Hist Subtype1: NS
Notes:
Source: ATCC
Expression arrays: CASED_p_NCLE_RNA4_HG-U133_Plus_2_D12_383660
SNP arrays: FIEFS_p_NCLE_DNA_Affy5_GenomeWideSNP_6_C03_411056
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in H4

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ACVRL1 12 52314716 52314716 H4_CENTRAL_NERV... 37 3'UTR Del G - uc001rzj.2 ACVRL1_uc001rzk... Hybrid_Cap...
ADAM17 2 9630245 9630245 H4_CENTRAL_NERV... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 H4_CENTRAL_NERV... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADARB2 10 1229081 1229081 H4_CENTRAL_NERV... 37 3'UTR SNP G A uc009xhq.2 ADARB2_uc009xhp... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 H4_CENTRAL_NERV... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 H4_CENTRAL_NERV... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
BRD2 6 32948599 32948599 H4_CENTRAL_NERV... 37 3'UTR Del C - uc010juh.2 BRD2_uc003ocn.3... Hybrid_Cap...
CDK11B 1 1654066 1654068 H4_CENTRAL_NERV... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CHD8 14 21853630 21853630 H4_CENTRAL_NERV... 37 3'UTR Del T - rs78520772 uc001was.1 CHD8_uc001war.1... Hybrid_Cap...
CHL1 3 447495 447495 H4_CENTRAL_NERV... 37 3'UTR SNP C T uc003bot.2 CHL1_uc003bou.2... Hybrid_Cap... view
CLK3 p.R261H 15 74912535 74912535 H4_CENTRAL_NERV... 37 Missense_Mutation SNP G A uc010uln.1 CLK3_uc002ayg.3... Hybrid_Cap... view
CNTN6 3 1339681 1339686 H4_CENTRAL_NERV... 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 H4_CENTRAL_NERV... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CXCL10 p.L11H 4 76944553 76944553 H4_CENTRAL_NERV... 37 Missense_Mutation SNP A T uc003hjl.3 ART3_uc003hji.2... Hybrid_Cap... view
CXCL12 10 44873992 44873993 H4_CENTRAL_NERV... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DACH1 13 72014625 72014626 H4_CENTRAL_NERV... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DDR2 1 162750211 162750212 H4_CENTRAL_NERV... 37 3'UTR Del TT - uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap...
DIP2C p.H1434Y 10 327258 327258 H4_CENTRAL_NERV... 37 Missense_Mutation SNP G A uc001ifp.2 Hybrid_Cap... view
EDN1 6 12290729 12290729 H4_CENTRAL_NERV... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EP300 22 41574970 41574972 H4_CENTRAL_NERV... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA3 p.Q962K 3 89528584 89528584 H4_CENTRAL_NERV... 37 Missense_Mutation SNP C A uc003dqy.2 EPHA3_uc010hon.... Hybrid_Cap... view
ETV1 7 14028708 14028708 H4_CENTRAL_NERV... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FANCD2 p.S1443T 3 10142918 10142918 H4_CENTRAL_NERV... 37 Missense_Mutation SNP G C uc003bux.1 FANCD2_uc003buy... Hybrid_Cap... view
FBN2 p.G1701D 5 127645773 127645773 H4_CENTRAL_NERV... 37 Missense_Mutation SNP C T uc003kuu.2 Hybrid_Cap... view
FGFR3 4 1809128 1809129 H4_CENTRAL_NERV... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FGFR4 p.T122N 5 176517755 176517755 H4_CENTRAL_NERV... 37 Missense_Mutation SNP C A uc003mfl.2 FGFR4_uc003mfm.... Hybrid_Cap... view
FLI1 11 128638217 128638217 H4_CENTRAL_NERV... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 H4_CENTRAL_NERV... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FNTA p.S290Y 8 42939876 42939876 H4_CENTRAL_NERV... 37 Missense_Mutation SNP C A uc003xps.2 FNTA_uc003xpt.2... Hybrid_Cap... view
GAS7 17 9939804 9939804 H4_CENTRAL_NERV... 37 Intron SNP G A uc002gmg.1 GAS7_uc002gmj.1... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 H4_CENTRAL_NERV... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 H4_CENTRAL_NERV... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIK1 p.L674* 21 30949393 30949393 H4_CENTRAL_NERV... 37 Nonsense_Mutation SNP A T uc011acs.1 GRIK1_uc002ynn.... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 H4_CENTRAL_NERV... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 H4_CENTRAL_NERV... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 H4_CENTRAL_NERV... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
IGF1R 15 99192755 99192762 H4_CENTRAL_NERV... 37 5'UTR Del TTTTT... - uc002bul.2 IGF1R_uc010urq.... Hybrid_Cap...
ILK 11 6630029 6630029 H4_CENTRAL_NERV... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INSRR p.A747T 1 156815066 156815066 H4_CENTRAL_NERV... 37 Missense_Mutation SNP C T uc010pht.1 NTRK1_uc001fqf.... Hybrid_Cap... view
KDR 4 55991569 55991569 H4_CENTRAL_NERV... 37 5'UTR SNP G T uc003has.2 KDR_uc003hat.1_... Hybrid_Cap... view
KSR1 p.R141Q 17 25909984 25909984 H4_CENTRAL_NERV... 37 Missense_Mutation SNP G A uc010crg.2 KSR1_uc002gzj.1... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 H4_CENTRAL_NERV... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 H4_CENTRAL_NERV... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 H4_CENTRAL_NERV... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK12 p.T206T 22 50694515 50694515 H4_CENTRAL_NERV... 37 Silent SNP C T uc003bkm.1 MAPK12_uc003bkn... Hybrid_Cap... view
MSH3 p.PPA66del 5 79950742 79950750 H4_CENTRAL_NERV... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
NCAM1 11 112832307 112832308 H4_CENTRAL_NERV... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 H4_CENTRAL_NERV... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.QQQ1272del 20 46279815 46279823 H4_CENTRAL_NERV... 37 In_Frame_Del Del GCAGC... - uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 H4_CENTRAL_NERV... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NLK 17 26521949 26521949 H4_CENTRAL_NERV... 37 3'UTR Del A - uc010crj.2 NLK_uc010cri.1_... Hybrid_Cap...
NPR1 1 153665919 153665920 H4_CENTRAL_NERV... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 H4_CENTRAL_NERV... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAQR4 16 3023275 3023275 H4_CENTRAL_NERV... 37 3'UTR SNP C G uc002csj.3 PAQR4_uc002csk.... Hybrid_Cap... view
PAX3 2 223158653 223158653 H4_CENTRAL_NERV... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX5 9 37034095 37034095 H4_CENTRAL_NERV... 37 5'UTR Del C - uc003zzo.1 PAX5_uc011lpw.1... Hybrid_Cap...
PDE4DIP p.Q1665fs 1 144873963 144873963 H4_CENTRAL_NERV... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 H4_CENTRAL_NERV... 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PGR 11 100933598 100933599 H4_CENTRAL_NERV... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIKFYVE p.Q987H 2 209190496 209190496 H4_CENTRAL_NERV... 37 Missense_Mutation SNP A T uc002vcz.2 PIKFYVE_uc010fu... Hybrid_Cap... view
PIM2 p.Y194N X 48772312 48772312 H4_CENTRAL_NERV... 37 Missense_Mutation SNP A T uc004dls.2 Hybrid_Cap... view
PIP5K1A p.S532G 1 151214997 151214997 H4_CENTRAL_NERV... 37 Missense_Mutation SNP A G uc001exj.2 PIP5K1A_uc001ex... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 H4_CENTRAL_NERV... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTPRT p.K323N 20 41306690 41306690 H4_CENTRAL_NERV... 37 Missense_Mutation SNP C A uc010ggj.2 PTPRT_uc002xkg.... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 H4_CENTRAL_NERV... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RPS6KA5 14 91360733 91360734 H4_CENTRAL_NERV... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
SEPT9 p.V303M 17 75478411 75478411 H4_CENTRAL_NERV... 37 Missense_Mutation SNP G A uc002jts.3 SEPT9_uc010wtk.... Hybrid_Cap... view
SEPT9 17 75494787 75494788 H4_CENTRAL_NERV... 37 3'UTR Ins - C rs5822173 uc002jts.3 SEPT9_uc010wtk.... Hybrid_Cap...
TLE1 p.K701E 9 84200477 84200477 H4_CENTRAL_NERV... 37 Missense_Mutation SNP T C uc004alz.2 TLE1_uc004aly.2... Hybrid_Cap... view
TLK1 2 171850178 171850179 H4_CENTRAL_NERV... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 H4_CENTRAL_NERV... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TOP1 p.A351D 20 39728772 39728772 H4_CENTRAL_NERV... 37 Missense_Mutation SNP C A uc002xjl.2 Hybrid_Cap... view
TRIM33 1 114940215 114940216 H4_CENTRAL_NERV... 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRPM7 15 50896821 50896821 H4_CENTRAL_NERV... 37 Intron SNP T C uc001zyt.3 TRPM7_uc010bew.... Hybrid_Cap... view
TRPS1 8 116635872 116635873 H4_CENTRAL_NERV... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN p.L20728I 2 179440973 179440973 H4_CENTRAL_NERV... 37 Missense_Mutation SNP G T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 H4_CENTRAL_NERV... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WT1 p.T358S 11 32421520 32421520 H4_CENTRAL_NERV... 37 Missense_Mutation SNP T A uc001mtn.1 WT1_uc001mtl.1_... Hybrid_Cap... view