Annotation Summary for Cell Line: NCI-H596  

Cell line primary name: NCI-H596
Cell line aliases: H596
Gender: M
Site Primary: lung
Histology: carcinoma
Hist Subtype1: mixed_adenosquamous_carcinoma
Notes:
Source: ATCC
Expression arrays: CRAZY_p_NCLE_RNA10_HG-U133_Plus_2_G11_569590
SNP arrays: HONEY_p_NCLE_DNAAffy3_S_GenomeWideSNP_6_H11_293468
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in NCI-H596

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ACACA 17 35766564 35766564 NCIH596_LUNG 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM17 2 9630245 9630245 NCIH596_LUNG 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 NCIH596_LUNG 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AFF1 p.Q1209* 4 88056821 88056821 NCIH596_LUNG 37 Nonsense_Mutation SNP C T uc011ccz.1 AFF1_uc003hqj.3... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 NCIH596_LUNG 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK2 p.1388_1389FF>F 18 56203253 56203255 NCIH596_LUNG 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ALPK3 p.Q1881L 15 85411605 85411606 NCIH596_LUNG 37 Missense_Mutation DNP AG TA uc002ble.2 ALPK3_uc010upc.... Hybrid_Cap...
BIRC6 p.A1741P 2 32689856 32689856 NCIH596_LUNG 37 Missense_Mutation SNP G C uc010ezu.2 Hybrid_Cap... view
BLM p.S181S 15 91293041 91293041 NCIH596_LUNG 37 Silent SNP C T uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap... view
BMPR1A p.R152P 10 88659808 88659808 NCIH596_LUNG 37 Missense_Mutation SNP G C uc001kdy.2 Hybrid_Cap... view
BRIP1 17 59763099 59763099 NCIH596_LUNG 37 Intron SNP C G uc002izk.1 BRIP1_uc002izl.... Hybrid_Cap... view
BRIP1 p.P727L 17 59821870 59821870 NCIH596_LUNG 37 Missense_Mutation SNP G A uc002izk.1 BRIP1_uc002izl.... Hybrid_Cap... view
BRSK2 11 1482394 1482394 NCIH596_LUNG 37 3'UTR SNP G A uc001ltm.2 BRSK2_uc001lti.... Hybrid_Cap... view
CACNB2 10 18828721 18828722 NCIH596_LUNG 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMK1 p.I84M 3 9804861 9804861 NCIH596_LUNG 37 Missense_Mutation SNP G C uc003bst.2 OGG1_uc003bsk.2... Hybrid_Cap... view
CAMK2A 5 149602223 149602224 NCIH596_LUNG 37 3'UTR Del AC - uc003lrt.2 CAMK2A_uc003lrs... Hybrid_Cap...
CBFB p.P70fs 16 67070584 67070584 NCIH596_LUNG 37 Frame_Shift_Del Del C - uc002erb.2 CBFB_uc002era.2... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 NCIH596_LUNG 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CSF1R 5 149433400 149433401 NCIH596_LUNG 37 3'UTR Ins - C rs66970099;rs78449650 uc003lrl.2 CSF1R_uc011dcd.... Hybrid_Cap...
CTBP2 p.K974fs 10 126678123 126678123 NCIH596_LUNG 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CXCL12 10 44873992 44873993 NCIH596_LUNG 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DNAH8 6 38952246 38952247 NCIH596_LUNG 37 Intron Ins - CA rs34819199 uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap...
EIF2AK4 15 40284909 40284909 NCIH596_LUNG 37 Intron SNP A T uc001zkm.1 EIF2AK4_uc010bb... Hybrid_Cap... view
EIF4E 4 99808137 99808141 NCIH596_LUNG 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
EIF4G1 p.GEA479del 3 184039767 184039775 NCIH596_LUNG 37 In_Frame_Del Del AGGAG... - uc010hxx.2 EIF4G1_uc003fno... Hybrid_Cap...
ERCC5 p.S1116N 13 103518047 103518047 NCIH596_LUNG 37 Missense_Mutation SNP G A uc001vpu.1 ERCC5_uc010tjb.... Hybrid_Cap... view
ETV1 7 14028708 14028708 NCIH596_LUNG 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FBN2 p.V1902F 5 127640745 127640745 NCIH596_LUNG 37 Missense_Mutation SNP C A uc003kuu.2 Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 NCIH596_LUNG 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 NCIH596_LUNG 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 NCIH596_LUNG 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT1 13 28896583 28896583 NCIH596_LUNG 37 Intron SNP T A uc001usb.3 FLT1_uc010aap.2... Hybrid_Cap... view
FN1 2 216244182 216244185 NCIH596_LUNG 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GPHN 14 66975120 66975120 NCIH596_LUNG 37 5'UTR SNP C T uc010tss.1 GPHN_uc001xiw.2... Hybrid_Cap... view
GRIA3 X 122318386 122318387 NCIH596_LUNG 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C p.C506S 12 14805903 14805903 NCIH596_LUNG 37 Missense_Mutation SNP A T uc001rcd.2 Hybrid_Cap... view
GUCY2C 12 14827464 14827466 NCIH596_LUNG 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC8 p.R164R X 71715064 71715064 NCIH596_LUNG 37 Silent SNP T G uc004eau.2 HDAC8_uc011mqe.... Hybrid_Cap... view
HECW1 p.L881F 7 43496036 43496036 NCIH596_LUNG 37 Missense_Mutation SNP C T uc003tid.1 HECW1_uc011kbi.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 NCIH596_LUNG 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90AA1 p.F159F 14 102552605 102552605 NCIH596_LUNG 37 Silent SNP G A uc001ykv.3 HSP90AA1_uc001y... Hybrid_Cap... view
ILK 11 6630029 6630029 NCIH596_LUNG 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INSR p.S646F 19 7163135 7163135 NCIH596_LUNG 37 Missense_Mutation SNP G A uc002mgd.1 INSR_uc002mge.1... Hybrid_Cap... view
ITGB1 10 33197131 33197134 NCIH596_LUNG 37 Intron Del CTTT - rs116966876 uc001iwq.3 ITGB1_uc001iwp.... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 NCIH596_LUNG 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAZF1 p.R223fs 7 27872484 27872484 NCIH596_LUNG 37 Frame_Shift_Del Del G - uc003szn.2 JAZF1_uc003szm.... Hybrid_Cap...
LRP1 p.R2707S 12 57588410 57588410 NCIH596_LUNG 37 Missense_Mutation SNP C A uc001snd.2 Hybrid_Cap... view
LRP1B p.R4120M 2 141081617 141081617 NCIH596_LUNG 37 Missense_Mutation SNP C A uc002tvj.1 Hybrid_Cap... view
LTK p.R682W 15 41797047 41797047 NCIH596_LUNG 37 Missense_Mutation SNP G A uc001zoa.3 LTK_uc001zob.3_... Hybrid_Cap... view
LZTR1 22 21351759 21351759 NCIH596_LUNG 37 3'UTR SNP G A uc002zto.2 LZTR1_uc002ztn.... Hybrid_Cap... view
MAF 16 79628537 79628537 NCIH596_LUNG 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAF 16 79628325 79628325 NCIH596_LUNG 37 3'UTR Del A - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 NCIH596_LUNG 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 NCIH596_LUNG 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 NCIH596_LUNG 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK8 p.D112G 10 49618096 49618096 NCIH596_LUNG 37 Missense_Mutation SNP A G uc009xnz.2 MAPK8_uc001jgl.... Hybrid_Cap... view
MARK1 1 220754562 220754562 NCIH596_LUNG 37 Intron SNP A G uc009xdw.2 MARK1_uc001hml.... Hybrid_Cap... view
MET p.D1028_splice 7 116412044 116412044 NCIH596_LUNG 37 Splice_Site_SNP SNP G T uc010lkh.2 MET_uc003vij.2_... Hybrid_Cap... view
MSH2 p.F19L 2 47630387 47630387 NCIH596_LUNG 37 Missense_Mutation SNP C A uc002rvz.2 MSH2_uc010yoh.1... Hybrid_Cap... view
NCAM1 11 112832307 112832308 NCIH596_LUNG 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 NCIH596_LUNG 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 NCIH596_LUNG 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NPM1 5 170837734 170837734 NCIH596_LUNG 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 NCIH596_LUNG 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 NCIH596_LUNG 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NSD1 p.D1004Y 5 176638410 176638410 NCIH596_LUNG 37 Missense_Mutation SNP G T uc003mfr.3 NSD1_uc003mft.3... Hybrid_Cap... view
NUP214 9 134001005 134001005 NCIH596_LUNG 37 5'UTR SNP A C uc004cag.2 NUP214_uc004cah... Hybrid_Cap... view
PAX3 2 223158653 223158653 NCIH596_LUNG 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP 1 144891975 144891975 NCIH596_LUNG 37 Intron SNP T C uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PGR 11 100933598 100933599 NCIH596_LUNG 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 NCIH596_LUNG 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3C2G 12 18800990 18800990 NCIH596_LUNG 37 3'UTR Del A - rs16914368 uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3CA p.E545K 3 178936091 178936091 NCIH596_LUNG 37 Missense_Mutation SNP G A rs104886003 uc003fjk.2 Hybrid_Cap... view
PPP3R1 p.F15_splice 2 68415824 68415824 NCIH596_LUNG 37 Splice_Site_SNP SNP T A uc002sei.1 Hybrid_Cap... view
PRKAA2 p.I32_splice 1 57140052 57140052 NCIH596_LUNG 37 Splice_Site_SNP SNP A T uc001cyk.3 Hybrid_Cap... view
PRKCG p.P202T 19 54395002 54395002 NCIH596_LUNG 37 Missense_Mutation SNP C A uc010yeg.1 PRKCG_uc010eqz.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 NCIH596_LUNG 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKG1 10 52751071 52751079 NCIH596_LUNG 37 5'UTR Del GCCGC... - uc001jjm.2 PRKG1_uc010qhp.... Hybrid_Cap...
PSEN1 14 73640531 73640531 NCIH596_LUNG 37 Intron SNP A G uc001xnr.2 PSEN1_uc001xnv.... Hybrid_Cap... view
RAPGEF2 p.L687fs 4 160262723 160262724 NCIH596_LUNG 37 Frame_Shift_Ins Ins - T uc003iqg.3 Hybrid_Cap...
RB1 p.I181fs 13 48923093 48923094 NCIH596_LUNG 37 Frame_Shift_Ins Ins - T uc001vcb.2 RB1_uc010acs.1_... Hybrid_Cap...
RBL1 p.D1016H 20 35627323 35627323 NCIH596_LUNG 37 Missense_Mutation SNP C G uc002xgi.2 RBL1_uc010zvt.1... Hybrid_Cap... view
RBPJ p.R238* 4 26426291 26426291 NCIH596_LUNG 37 Nonsense_Mutation SNP C T rs5007634 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 NCIH596_LUNG 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RPN1 3 128339057 128339057 NCIH596_LUNG 37 3'UTR Del A - rs3182459 uc003ekr.1 RPN1_uc011bkq.1... Hybrid_Cap...
RUNX1T1 p.G284G 8 93004039 93004039 NCIH596_LUNG 37 Silent SNP G T uc011lgi.1 RUNX1T1_uc003yf... Hybrid_Cap... view
SH3GL1 p.A186V 19 4363784 4363784 NCIH596_LUNG 37 Missense_Mutation SNP G A uc002maj.2 SH3GL1_uc002mak... Hybrid_Cap... view
SMAD7 18 46447624 46447624 NCIH596_LUNG 37 3'UTR Del A - uc002ldg.2 SMAD7_uc002ldf.... Hybrid_Cap...
SOX2 3 181431226 181431227 NCIH596_LUNG 37 3'UTR Ins - A rs80135245 uc003fkx.2 SOX2OT_uc003fkv... Hybrid_Cap...
SRPK3 p.D290N X 153048495 153048495 NCIH596_LUNG 37 Missense_Mutation SNP G A uc004fik.2 SRPK3_uc010nul.... Hybrid_Cap... view
STAT6 p.I151V 12 57501049 57501049 NCIH596_LUNG 37 Missense_Mutation SNP T C uc009zpg.2 STAT6_uc009zpe.... Hybrid_Cap... view
STK31 7 23872024 23872025 NCIH596_LUNG 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TACC3 p.L554F 4 1737475 1737475 NCIH596_LUNG 37 Missense_Mutation SNP G C uc003gdo.2 TACC3_uc010ibz.... Hybrid_Cap... view
TEC 4 48139307 48139310 NCIH596_LUNG 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TGFB2 1 218519928 218519929 NCIH596_LUNG 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TLK1 2 171850178 171850179 NCIH596_LUNG 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 NCIH596_LUNG 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TMEM123 p.R193G 11 102272295 102272295 NCIH596_LUNG 37 Missense_Mutation SNP T C uc001pha.2 TMEM123_uc009yx... Hybrid_Cap... view
TNRC6B p.N817K 22 40662685 40662685 NCIH596_LUNG 37 Missense_Mutation SNP T A uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap... view
TOP1 p.E208K 20 39721119 39721119 NCIH596_LUNG 37 Missense_Mutation SNP G A uc002xjl.2 TOP1_uc010gge.1... Hybrid_Cap... view
TP53 p.G245C 17 7577548 7577548 NCIH596_LUNG 37 Missense_Mutation SNP C A rs28934575 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 NCIH596_LUNG 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TPR 1 186282966 186282966 NCIH596_LUNG 37 3'UTR SNP C T uc001grv.2 PRG4_uc001gru.3... Hybrid_Cap... view
TRADD p.E276K 16 67188665 67188665 NCIH596_LUNG 37 Missense_Mutation SNP C T uc002eri.1 TRADD_uc002erh.... Hybrid_Cap... view
TRIM33 1 114940211 114940212 NCIH596_LUNG 37 3'UTR Ins - T rs66490349 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRPS1 p.C912* 8 116430645 116430645 NCIH596_LUNG 37 Nonsense_Mutation SNP G T uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap... view
USP6 17 5076345 5076345 NCIH596_LUNG 37 3'UTR SNP G C uc002gau.1 USP6_uc002gav.1... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 NCIH596_LUNG 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...