Annotation Summary for Cell Line: NCI-H508  

Cell line primary name: NCI-H508
Cell line aliases: H508
Gender: M
Site Primary: large_intestine
Histology: carcinoma
Hist Subtype1: adenocarcinoma
Notes:
Source: ATCC
Expression arrays: AGENT_p_NCLE_RNA6_HG-U133_Plus_2_F12_436508
SNP arrays: FIEFS_p_NCLE_DNA_Affy5_GenomeWideSNP_6_G08_410944
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in NCI-H508

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
AAK1 p.541_542QQ>Q 2 69741754 69741756 NCIH508_LARGE_I... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACACA 17 35766564 35766564 NCIH508_LARGE_I... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM17 2 9630245 9630245 NCIH508_LARGE_I... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 NCIH508_LARGE_I... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 NCIH508_LARGE_I... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 NCIH508_LARGE_I... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AMHR2 p.R172* 12 53819250 53819250 NCIH508_LARGE_I... 37 Nonsense_Mutation SNP C T uc001scx.1 AMHR2_uc009zmy.... Hybrid_Cap... view
BCL9 p.Q250* 1 147090709 147090709 NCIH508_LARGE_I... 37 Nonsense_Mutation SNP C T uc001epq.2 BCL9_uc010ozr.1... Hybrid_Cap... view
BRAF p.G596R 7 140453149 140453149 NCIH508_LARGE_I... 37 Missense_Mutation SNP C G uc003vwc.3 Hybrid_Cap... view
CACNB2 10 18828669 18828670 NCIH508_LARGE_I... 37 3'UTR Ins - C rs34022725;rs58830289 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMKV p.R92C 3 49899252 49899252 NCIH508_LARGE_I... 37 Missense_Mutation SNP G A uc003cxt.1 CAMKV_uc011bcy.... Hybrid_Cap... view
CARD14 p.E197K 17 78157951 78157951 NCIH508_LARGE_I... 37 Missense_Mutation SNP G A uc002jxw.1 CARD14_uc002jxt... Hybrid_Cap... view
CCR6 6 167417411 167417411 NCIH508_LARGE_I... 37 5'UTR SNP A G uc003qvl.2 FGFR1OP_uc011eg... Hybrid_Cap... view
CDH2 p.D627Y 18 25565588 25565588 NCIH508_LARGE_I... 37 Missense_Mutation SNP C A uc002kwg.2 CDH2_uc010xbn.1... Hybrid_Cap... view
CDKN2A p.R139* 9 21971109 21971109 NCIH508_LARGE_I... 37 Nonsense_Mutation SNP G A rs34968276 uc003zpl.2 MTAP_uc003zpi.1... Hybrid_Cap... view
CEP110 p.S102F 9 123852640 123852640 NCIH508_LARGE_I... 37 Missense_Mutation SNP C T uc004bkx.1 CEP110_uc004bkw... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 NCIH508_LARGE_I... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHRNB4 p.S417P 15 78921398 78921398 NCIH508_LARGE_I... 37 Missense_Mutation SNP A G uc002bed.1 CHRNB4_uc002bee... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 NCIH508_LARGE_I... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREBBP p.F1540fs 16 3786145 3786145 NCIH508_LARGE_I... 37 Frame_Shift_Del Del A - uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap...
CXCL12 10 44873992 44873993 NCIH508_LARGE_I... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
CYP17A1 10 104597176 104597176 NCIH508_LARGE_I... 37 5'UTR SNP C T rs61754261 uc001kwg.2 Hybrid_Cap... view
DGKB 7 14216305 14216305 NCIH508_LARGE_I... 37 Intron SNP A G uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap... view
DGKB 7 14216345 14216345 NCIH508_LARGE_I... 37 Intron SNP A C uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap... view
DOCK3 p.E1213* 3 51375815 51375815 NCIH508_LARGE_I... 37 Nonsense_Mutation SNP G T uc011bds.1 Hybrid_Cap... view
DYRK4 p.R291C 12 4705861 4705861 NCIH508_LARGE_I... 37 Missense_Mutation SNP C T uc009zeh.1 DYRK4_uc001qmx.... Hybrid_Cap... view
EEF2K p.D584N 16 22278183 22278183 NCIH508_LARGE_I... 37 Missense_Mutation SNP G A uc002dki.2 EEF2K_uc002dkh.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 NCIH508_LARGE_I... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA8 p.E424K 1 22915654 22915654 NCIH508_LARGE_I... 37 Missense_Mutation SNP G A uc001bfx.1 EPHA8_uc001bfw.... Hybrid_Cap... view
ETV1 7 14028708 14028708 NCIH508_LARGE_I... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FBN1 p.G642V 15 48797256 48797257 NCIH508_LARGE_I... 37 Missense_Mutation DNP TC AA uc001zwx.1 Hybrid_Cap...
FGFR1OP 6 167453519 167453520 NCIH508_LARGE_I... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 NCIH508_LARGE_I... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 NCIH508_LARGE_I... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNB p.V2216M 3 58139287 58139287 NCIH508_LARGE_I... 37 Missense_Mutation SNP G A uc010hne.2 FLNB_uc003djj.2... Hybrid_Cap... view
FN1 2 216244182 216244185 NCIH508_LARGE_I... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 NCIH508_LARGE_I... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GPR141 p.G31R 7 37780086 37780086 NCIH508_LARGE_I... 37 Missense_Mutation SNP G A uc003tfm.1 Hybrid_Cap... view
GRIA3 X 122318386 122318387 NCIH508_LARGE_I... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 NCIH508_LARGE_I... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
GUCY2D p.G236R 17 7907071 7907071 NCIH508_LARGE_I... 37 Missense_Mutation SNP G A uc002gjt.2 Hybrid_Cap... view
HNF1A 12 121434630 121434631 NCIH508_LARGE_I... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 NCIH508_LARGE_I... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
ILK 11 6630029 6630029 NCIH508_LARGE_I... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGB4 p.R554Q 17 73732135 73732135 NCIH508_LARGE_I... 37 Missense_Mutation SNP G A uc002jpg.2 ITGB4_uc002jph.... Hybrid_Cap... view
ITPR2 p.L2482P 12 26553146 26553146 NCIH508_LARGE_I... 37 Missense_Mutation SNP A G uc001rhg.2 ITPR2_uc009zjg.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 NCIH508_LARGE_I... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KIT p.T67S 4 55561810 55561810 NCIH508_LARGE_I... 37 Missense_Mutation SNP C G uc010igr.2 KIT_uc010igs.2_... Hybrid_Cap... view
KLK7 19 51480672 51480675 NCIH508_LARGE_I... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LMNB2 p.T361M 19 2434413 2434413 NCIH508_LARGE_I... 37 Missense_Mutation SNP G A uc002lwa.1 LMNB2_uc002lvy.... Hybrid_Cap... view
MAK p.I209V 6 10803991 10803991 NCIH508_LARGE_I... 37 Missense_Mutation SNP T C uc003mzl.2 SYCP2L_uc011dim... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 NCIH508_LARGE_I... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 NCIH508_LARGE_I... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 NCIH508_LARGE_I... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK7 p.R392C 17 19284696 19284696 NCIH508_LARGE_I... 37 Missense_Mutation SNP C T uc002gvn.2 MAPK7_uc002gvo.... Hybrid_Cap... view
MAPKBP1 15 42111753 42111754 NCIH508_LARGE_I... 37 Intron Ins - C rs3034891 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MEF2A p.QQ428del 15 100252710 100252715 NCIH508_LARGE_I... 37 In_Frame_Del Del CAGCA... - uc010urw.1 MEF2A_uc010urv.... Hybrid_Cap...
MET p.R976T 7 116411694 116411694 NCIH508_LARGE_I... 37 Missense_Mutation SNP G C uc010lkh.2 MET_uc003vij.2_... Hybrid_Cap... view
MYO3A p.E753G 10 26417463 26417463 NCIH508_LARGE_I... 37 Missense_Mutation SNP A G uc001isn.2 MYO3A_uc009xko.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 NCIH508_LARGE_I... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 NCIH508_LARGE_I... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 NCIH508_LARGE_I... 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 NCIH508_LARGE_I... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NIPBL 5 37064569 37064569 NCIH508_LARGE_I... 37 Intron SNP A T uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap... view
NOS2 p.S242L 17 26108201 26108201 NCIH508_LARGE_I... 37 Missense_Mutation SNP G A uc002gzu.2 NOS2_uc010crh.1... Hybrid_Cap... view
NOTCH3 p.R2009W 19 15272414 15272414 NCIH508_LARGE_I... 37 Missense_Mutation SNP G A uc002nan.2 Hybrid_Cap... view
NOTCH4 6 32170465 32170465 NCIH508_LARGE_I... 37 Intron Del G - uc003obb.2 NOTCH4_uc003oba... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 NCIH508_LARGE_I... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUMA1 p.E145Q 11 71732277 71732277 NCIH508_LARGE_I... 37 Missense_Mutation SNP C G uc001orl.1 NUMA1_uc001ork.... Hybrid_Cap... view
OLIG2 p.S41L 21 34399292 34399292 NCIH508_LARGE_I... 37 Missense_Mutation SNP C T uc002yqx.1 Hybrid_Cap... view
PALB2 p.L273R 16 23647049 23647049 NCIH508_LARGE_I... 37 Missense_Mutation SNP A C uc002dlx.1 Hybrid_Cap... view
PAX3 2 223158653 223158653 NCIH508_LARGE_I... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 NCIH508_LARGE_I... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3CA p.E545K 3 178936091 178936091 NCIH508_LARGE_I... 37 Missense_Mutation SNP G A rs104886003 uc003fjk.2 Hybrid_Cap... view
PRDM16 p.T61I 1 3102833 3102833 NCIH508_LARGE_I... 37 Missense_Mutation SNP C T uc001akf.2 PRDM16_uc001akc... Hybrid_Cap... view
PRKAA1 p.R459C 5 40764721 40764721 NCIH508_LARGE_I... 37 Missense_Mutation SNP G A uc003jmb.2 PRKAA1_uc003jmc... Hybrid_Cap... view
PRKAA2 p.T221M 1 57161706 57161706 NCIH508_LARGE_I... 37 Missense_Mutation SNP C T uc001cyk.3 Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 NCIH508_LARGE_I... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 NCIH508_LARGE_I... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RGL1 p.L557V 1 183881217 183881217 NCIH508_LARGE_I... 37 Missense_Mutation SNP C G uc001gqm.2 RGL1_uc010pof.1... Hybrid_Cap... view
RGS22 p.S830L 8 101016292 101016292 NCIH508_LARGE_I... 37 Missense_Mutation SNP G A uc003yjb.1 RGS22_uc003yja.... Hybrid_Cap... view
ROBO1 p.V133L 3 78987853 78987853 NCIH508_LARGE_I... 37 Missense_Mutation SNP C A uc003dqe.2 ROBO1_uc003dqb.... Hybrid_Cap... view
ROBO2 3 77666937 77666937 NCIH508_LARGE_I... 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
RPS6KB1 17 58024224 58024225 NCIH508_LARGE_I... 37 3'UTR Ins - AA rs67846207 uc002ixy.2 RPS6KB1_uc010dd... Hybrid_Cap...
STK25 2 242435659 242435662 NCIH508_LARGE_I... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 NCIH508_LARGE_I... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TEC 4 48139307 48139310 NCIH508_LARGE_I... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TNK2 p.R250Q 3 195610077 195610077 NCIH508_LARGE_I... 37 Missense_Mutation SNP C T uc003fvt.1 TNK2_uc003fvs.1... Hybrid_Cap... view
TOPBP1 p.R121fs 3 133376643 133376644 NCIH508_LARGE_I... 37 Frame_Shift_Ins Ins - T uc003eps.2 Hybrid_Cap...
TP63 3 189507518 189507519 NCIH508_LARGE_I... 37 Intron Ins - AG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRPS1 8 116635872 116635873 NCIH508_LARGE_I... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TSC2 16 2138671 2138672 NCIH508_LARGE_I... 37 3'UTR Del AA - uc002con.2 TSC2_uc010bsd.2... Hybrid_Cap...
TSHR 14 81575126 81575126 NCIH508_LARGE_I... 37 Intron SNP A G uc001xvd.1 TSHR_uc001xvc.2... Hybrid_Cap... view
TTBK1 p.E771del 6 43250726 43250728 NCIH508_LARGE_I... 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
UBE2O p.Q300R 17 74396627 74396627 NCIH508_LARGE_I... 37 Missense_Mutation SNP T C uc002jrm.3 UBE2O_uc002jrn.... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 NCIH508_LARGE_I... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WNK4 17 40946443 40946448 NCIH508_LARGE_I... 37 Intron Del TAAGA... - rs61755617 uc002ibj.2 WNK4_uc010wgx.1... Hybrid_Cap...
YSK4 p.P1290T 2 135738443 135738443 NCIH508_LARGE_I... 37 Missense_Mutation SNP G T uc002tue.1 YSK4_uc002tuf.1... Hybrid_Cap... view
ZBTB16 p.P658L 11 114121228 114121228 NCIH508_LARGE_I... 37 Missense_Mutation SNP C T uc001pop.2 ZBTB16_uc001poq... Hybrid_Cap... view
ZMYND10 3 50378785 50378785 NCIH508_LARGE_I... 37 3'UTR SNP T G uc003dag.1 RASSF1_uc003dad... Hybrid_Cap... view
ZNF423 p.Y1259* 16 49557583 49557583 NCIH508_LARGE_I... 37 Nonsense_Mutation SNP G T uc002efs.2 ZNF423_uc010vgn... Hybrid_Cap... view