Annotation Summary for Cell Line: NCI-H747  

Cell line primary name: NCI-H747
Cell line aliases: H747
Gender: M
Site Primary: large_intestine
Histology: carcinoma
Hist Subtype1: adenocarcinoma
Notes:
Source: ATCC
Expression arrays: NIECE_p_NCLE_RNA3_HG-U133_Plus_2_H01_296158
SNP arrays: FASTS_p_NCLE_DNAAffy4_S_GenomeWideSNP_6_E03_335288
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in NCI-H747

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 NCIH747_LARGE_I... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
AATK p.E143V 17 79101697 79101697 NCIH747_LARGE_I... 37 Missense_Mutation SNP T A uc010dia.2 MIR657_hsa-mir-... Hybrid_Cap... view
ADAM17 2 9630245 9630245 NCIH747_LARGE_I... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 NCIH747_LARGE_I... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 NCIH747_LARGE_I... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 NCIH747_LARGE_I... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK2 p.1388_1389FF>F 18 56203253 56203255 NCIH747_LARGE_I... 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ALPK2 p.A1177T 18 56203890 56203890 NCIH747_LARGE_I... 37 Missense_Mutation SNP C T uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap... view
APC p.Q161* 5 112111384 112111384 NCIH747_LARGE_I... 37 Nonsense_Mutation SNP C T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC p.Q1429* 5 112175576 112175576 NCIH747_LARGE_I... 37 Nonsense_Mutation SNP C T rs74535574 uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
ATM p.Q2733P 11 108206618 108206618 NCIH747_LARGE_I... 37 Missense_Mutation SNP A C uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
BAG4 p.W103* 8 38050243 38050243 NCIH747_LARGE_I... 37 Nonsense_Mutation SNP G A uc003xky.1 BAG4_uc003xkz.1... Hybrid_Cap... view
BCR 22 23631813 23631814 NCIH747_LARGE_I... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BCR 22 23632777 23632778 NCIH747_LARGE_I... 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
CACNB2 10 18828721 18828722 NCIH747_LARGE_I... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMKK2 12 121681800 121681800 NCIH747_LARGE_I... 37 Intron SNP G A uc001tzu.2 CAMKK2_uc001tzt... Hybrid_Cap... view
CHIC2 4 54876132 54876132 NCIH747_LARGE_I... 37 3'UTR Del C - rs4437313 uc003haj.1 PDGFRA_uc003haa... Hybrid_Cap...
CHRNA5 15 78885753 78885753 NCIH747_LARGE_I... 37 3'UTR SNP C T uc002bdy.2 CHRNA3_uc002bea... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 NCIH747_LARGE_I... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
COL1A1 17 48262618 48262619 NCIH747_LARGE_I... 37 3'UTR Ins - TT rs71869231 uc002iqm.2 Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 NCIH747_LARGE_I... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
DACH1 13 72014625 72014626 NCIH747_LARGE_I... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
EGFR p.E282K 7 55221800 55221800 NCIH747_LARGE_I... 37 Missense_Mutation SNP G A uc003tqk.2 EGFR_uc003tqh.2... Hybrid_Cap... view
EIF2AK1 7 6064070 6064070 NCIH747_LARGE_I... 37 3'UTR SNP G A uc003spp.2 EIF2AK1_uc003sp... Hybrid_Cap... view
EIF2AK4 p.D956N 15 40289264 40289264 NCIH747_LARGE_I... 37 Missense_Mutation SNP G A uc001zkm.1 EIF2AK4_uc010bb... Hybrid_Cap... view
EIF4E 4 99808137 99808141 NCIH747_LARGE_I... 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
ETV6 p.Q260* 12 12022672 12022672 NCIH747_LARGE_I... 37 Nonsense_Mutation SNP C T uc001qzz.2 ETV6_uc001raa.1... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 NCIH747_LARGE_I... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FN1 2 216244182 216244185 NCIH747_LARGE_I... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FNBP1 9 132657869 132657869 NCIH747_LARGE_I... 37 Intron SNP G A uc004byw.1 FNBP1_uc011mbv.... Hybrid_Cap... view
GPR112 p.S2155* X 135432329 135432329 NCIH747_LARGE_I... 37 Nonsense_Mutation SNP C A uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 NCIH747_LARGE_I... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 NCIH747_LARGE_I... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIN2A p.K317Q 16 10031874 10031874 NCIH747_LARGE_I... 37 Missense_Mutation SNP T G uc002czo.3 GRIN2A_uc010uym... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 NCIH747_LARGE_I... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 NCIH747_LARGE_I... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 NCIH747_LARGE_I... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 NCIH747_LARGE_I... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 NCIH747_LARGE_I... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 NCIH747_LARGE_I... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KRAS p.G13D 12 25398281 25398281 NCIH747_LARGE_I... 37 Missense_Mutation SNP C T rs112445441 uc001rgp.1 KRAS_uc001rgq.1... Hybrid_Cap... view
LMNA 1 156109095 156109095 NCIH747_LARGE_I... 37 3'UTR Del A - uc001fni.2 LMNA_uc001fnh.2... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 NCIH747_LARGE_I... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K2 19 4123874 4123874 NCIH747_LARGE_I... 37 5'UTR SNP G C uc002lzk.2 Hybrid_Cap... view
MAP2K6 17 67515683 67515683 NCIH747_LARGE_I... 37 Intron SNP C G uc002jij.2 MAP2K6_uc002jii... Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 NCIH747_LARGE_I... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 NCIH747_LARGE_I... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK12 p.Y261C 22 50693950 50693950 NCIH747_LARGE_I... 37 Missense_Mutation SNP T C uc003bkm.1 MAPK12_uc003bkn... Hybrid_Cap... view
MINK1 p.H143H 17 4788218 4788218 NCIH747_LARGE_I... 37 Silent SNP T C uc010vsl.1 MINK1_uc010vsk.... Hybrid_Cap... view
MLL3 p.R1137* 7 151919682 151919682 NCIH747_LARGE_I... 37 Nonsense_Mutation SNP T A uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MSH3 p.PPA66del 5 79950742 79950750 NCIH747_LARGE_I... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
NCAM1 11 112832307 112832308 NCIH747_LARGE_I... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 NCIH747_LARGE_I... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAPD3 p.S494F 11 134073081 134073081 NCIH747_LARGE_I... 37 Missense_Mutation SNP G A uc001qhd.1 NCAPD3_uc010scm... Hybrid_Cap... view
NCOA3 p.Q1276del 20 46279837 46279839 NCIH747_LARGE_I... 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NCOA3 20 46282339 46282340 NCIH747_LARGE_I... 37 3'UTR Ins - AT uc002xtk.2 NCOA3_uc002xtl.... Hybrid_Cap...
NEK10 3 27257271 27257271 NCIH747_LARGE_I... 37 3'UTR SNP G T uc003cdt.1 NEK10_uc003cds.... Hybrid_Cap... view
NFKB1 p.C704F 4 103528463 103528463 NCIH747_LARGE_I... 37 Missense_Mutation SNP G T uc011cep.1 NFKB1_uc011ceq.... Hybrid_Cap... view
NPM1 5 170837734 170837734 NCIH747_LARGE_I... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 NCIH747_LARGE_I... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 NCIH747_LARGE_I... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUP214 9 134067556 134067557 NCIH747_LARGE_I... 37 Intron Ins - T rs66652901 uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
PAPPA p.R189L 9 118949583 118949583 NCIH747_LARGE_I... 37 Missense_Mutation SNP G T uc004bjn.2 PAPPA_uc011lxp.... Hybrid_Cap... view
PAX3 2 223158653 223158653 NCIH747_LARGE_I... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PCDH15 p.T807S 10 55782774 55782774 NCIH747_LARGE_I... 37 Missense_Mutation SNP T A uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap... view
PCDH15 p.R804G 10 55782783 55782783 NCIH747_LARGE_I... 37 Missense_Mutation SNP G C uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap... view
PDE4DIP p.Q1665fs 1 144873963 144873963 NCIH747_LARGE_I... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDGFRA 4 55131002 55131002 NCIH747_LARGE_I... 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PGR 11 100933598 100933599 NCIH747_LARGE_I... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PI4KB 1 151265195 151265195 NCIH747_LARGE_I... 37 3'UTR SNP C T uc001exr.2 PI4KB_uc001exs.... Hybrid_Cap... view
PIK3R1 5 67584340 67584341 NCIH747_LARGE_I... 37 Intron Ins - CGAGC rs72310992 uc003jva.2 PIK3R1_uc003jvb... Hybrid_Cap...
PRKD3 2 37480319 37480320 NCIH747_LARGE_I... 37 Stop_Codon_Ins Ins - T rs79875666 uc002rqd.2 Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 NCIH747_LARGE_I... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTPRD p.R588H 9 8504320 8504320 NCIH747_LARGE_I... 37 Missense_Mutation SNP C T uc003zkk.2 PTPRD_uc003zkp.... Hybrid_Cap... view
PTTG1 p.M169T 5 159854857 159854857 NCIH747_LARGE_I... 37 Missense_Mutation SNP T C uc003lyj.2 PTTG1_uc003lyk.... Hybrid_Cap... view
RAPGEF2 p.S1223C 4 160274698 160274698 NCIH747_LARGE_I... 37 Missense_Mutation SNP C G uc003iqg.3 Hybrid_Cap... view
ROBO1 p.P1188L 3 78680374 78680374 NCIH747_LARGE_I... 37 Missense_Mutation SNP G A uc003dqe.2 ROBO1_uc003dqb.... Hybrid_Cap... view
RPS6KL1 14 75373626 75373627 NCIH747_LARGE_I... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SCARA5 8 27729239 27729239 NCIH747_LARGE_I... 37 3'UTR SNP C T uc003xgj.2 SCARA5_uc010luz... Hybrid_Cap... view
SMURF2 17 62541852 62541852 NCIH747_LARGE_I... 37 3'UTR Del G - rs2872314 uc002jep.1 SMURF2_uc002jeq... Hybrid_Cap...
STK17A p.Q169H 7 43647942 43647942 NCIH747_LARGE_I... 37 Missense_Mutation SNP G C uc003tih.2 Hybrid_Cap... view
STK25 2 242435659 242435662 NCIH747_LARGE_I... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK36 2 219537477 219537477 NCIH747_LARGE_I... 37 5'UTR SNP T G uc002viu.2 STK36_uc002viv.... Hybrid_Cap... view
SUZ12 17 30326217 30326217 NCIH747_LARGE_I... 37 3'UTR SNP A G uc002hgs.2 SUZ12_uc002hgt.... Hybrid_Cap... view
TCF21 6 134210497 134210498 NCIH747_LARGE_I... 37 5'UTR Ins - TCTC rs35199378 uc003qei.3 TCF21_uc003qej.... Hybrid_Cap...
TMEM123 11 102269398 102269398 NCIH747_LARGE_I... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TMEM123 11 102269461 102269461 NCIH747_LARGE_I... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TOX 8 59720179 59720179 NCIH747_LARGE_I... 37 3'UTR SNP A C uc003xtw.1 Hybrid_Cap... view
TP53 p.R158L 17 7578457 7578457 NCIH747_LARGE_I... 37 Missense_Mutation SNP C A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TRIM33 1 114940211 114940212 NCIH747_LARGE_I... 37 3'UTR Ins - T rs66490349 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TSC1 9 135771333 135771333 NCIH747_LARGE_I... 37 3'UTR Del A - rs115091888 uc004cca.2 TSC1_uc004ccb.3... Hybrid_Cap...
TTBK2 p.A1090S 15 43044176 43044176 NCIH747_LARGE_I... 37 Missense_Mutation SNP C A uc001zqo.2 TTBK2_uc010bcy.... Hybrid_Cap... view
TTBK2 p.E1004K 15 43044434 43044434 NCIH747_LARGE_I... 37 Missense_Mutation SNP C T uc001zqo.2 TTBK2_uc010bcy.... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 NCIH747_LARGE_I... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZNF423 16 49525160 49525160 NCIH747_LARGE_I... 37 3'UTR SNP G A uc002efs.2 ZNF423_uc010vgn... Hybrid_Cap... view