Annotation Summary for Cell Line: NCI-H1694  

Cell line primary name: NCI-H1694
Cell line aliases: H1694
Gender: M
Site Primary: lung
Histology: carcinoma
Hist Subtype1: small_cell_carcinoma
Notes:
Source: ATCC
Expression arrays: AGENT_p_NCLE_RNA6_HG-U133_Plus_2_A03_436582
SNP arrays: SKATS_p_NCLE_DNAAffy13_GenomeWideSNP_6_E06_592982
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in NCI-H1694

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ADAM17 2 9630245 9630245 NCIH1694_LUNG 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 NCIH1694_LUNG 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM32 8 39079011 39079012 NCIH1694_LUNG 37 Intron Ins - A uc003xmt.3 ADAM32_uc011lch... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 NCIH1694_LUNG 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AKT2 p.E360A 19 40741893 40741893 NCIH1694_LUNG 37 Missense_Mutation SNP T G uc002onf.2 AKT2_uc010egs.2... Hybrid_Cap... view
ASTN1 p.Q1279H 1 176833468 176833468 NCIH1694_LUNG 37 Missense_Mutation SNP C A uc001glc.2 ASTN1_uc001glb.... Hybrid_Cap... view
ATP11A p.K1019_splice 13 113526115 113526115 NCIH1694_LUNG 37 Splice_Site_SNP SNP G A uc001vsj.3 ATP11A_uc001vsi... Hybrid_Cap... view
BCR 22 23631813 23631814 NCIH1694_LUNG 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BIRC6 p.Q4743E 2 32832678 32832678 NCIH1694_LUNG 37 Missense_Mutation SNP C G uc010ezu.2 Hybrid_Cap... view
BLK p.P191T 8 11412350 11412350 NCIH1694_LUNG 37 Missense_Mutation SNP C A uc003wty.2 BLK_uc003wtz.2_... Hybrid_Cap... view
CACNB2 10 18828721 18828722 NCIH1694_LUNG 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CARD10 p.KE272del 22 37906309 37906314 NCIH1694_LUNG 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CARD14 17 78182309 78182312 NCIH1694_LUNG 37 3'UTR Del CACA - uc002jxw.1 CARD14_uc002jxt... Hybrid_Cap...
CBFA2T3 p.R114H 16 88964524 88964524 NCIH1694_LUNG 37 Missense_Mutation SNP C T uc002fmm.1 CBFA2T3_uc002fm... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 NCIH1694_LUNG 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHL1 p.E1085G 3 440700 440700 NCIH1694_LUNG 37 Missense_Mutation SNP A G uc003bot.2 CHL1_uc003bou.2... Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 NCIH1694_LUNG 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CTBP1 p.V30M 4 1232078 1232078 NCIH1694_LUNG 37 Missense_Mutation SNP C T uc003gcv.1 CTBP1_uc003gct.... Hybrid_Cap... view
CTBP2 p.K974fs 10 126678123 126678123 NCIH1694_LUNG 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CTNNA2 p.T102K 2 80085145 80085145 NCIH1694_LUNG 37 Missense_Mutation SNP C A uc010ysh.1 CTNNA2_uc010yse... Hybrid_Cap... view
DEK 6 18225915 18225915 NCIH1694_LUNG 37 3'UTR SNP T A uc003ncr.1 DEK_uc011djf.1_... Hybrid_Cap... view
DST p.P4056L 6 56380300 56380300 NCIH1694_LUNG 37 Missense_Mutation SNP G A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
EIF5A p.S53A 17 7213021 7213021 NCIH1694_LUNG 37 Missense_Mutation SNP T G uc002gfr.2 EIF5A_uc010vtu.... Hybrid_Cap... view
EP300 22 41574970 41574972 NCIH1694_LUNG 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA6 3 97367230 97367231 NCIH1694_LUNG 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHB6 p.176_177insS 7 142562051 142562052 NCIH1694_LUNG 37 In_Frame_Ins Ins - CCT rs72043374 uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap...
EPS15 1 51822220 51822220 NCIH1694_LUNG 37 3'UTR Del A - uc001csq.1 EPS15_uc009vyz.... Hybrid_Cap...
EPS15 p.C269Y 1 51910709 51910709 NCIH1694_LUNG 37 Missense_Mutation SNP C T uc001csq.1 EPS15_uc009vyz.... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 NCIH1694_LUNG 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 NCIH1694_LUNG 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 NCIH1694_LUNG 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNB p.V1683F 3 58124101 58124101 NCIH1694_LUNG 37 Missense_Mutation SNP G T uc010hne.2 FLNB_uc003djj.2... Hybrid_Cap... view
FN1 2 216244182 216244185 NCIH1694_LUNG 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GRIA3 X 122318386 122318387 NCIH1694_LUNG 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 NCIH1694_LUNG 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 NCIH1694_LUNG 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 NCIH1694_LUNG 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 NCIH1694_LUNG 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 NCIH1694_LUNG 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
LRP1B p.D1614N 2 141607770 141607770 NCIH1694_LUNG 37 Missense_Mutation SNP C T uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
LRP1B p.E215D 2 141986957 141986957 NCIH1694_LUNG 37 Missense_Mutation SNP C A uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
LRRK2 p.F553_splice 12 40668383 40668383 NCIH1694_LUNG 37 Splice_Site_SNP SNP A T uc001rmg.3 LRRK2_uc001rmh.... Hybrid_Cap... view
MAF 16 79628537 79628537 NCIH1694_LUNG 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 NCIH1694_LUNG 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 NCIH1694_LUNG 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 NCIH1694_LUNG 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP4K4 2 102507894 102507895 NCIH1694_LUNG 37 3'UTR Ins - T uc002tbc.2 MAP4K4_uc002tbd... Hybrid_Cap...
MINK1 p.Q878* 17 4797350 4797350 NCIH1694_LUNG 37 Nonsense_Mutation SNP C T uc010vsl.1 MINK1_uc010vsk.... Hybrid_Cap... view
MLLT3 9 20346393 20346394 NCIH1694_LUNG 37 3'UTR Ins - A uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap...
MYH11 p.R1869H 16 15809049 15809049 NCIH1694_LUNG 37 Missense_Mutation SNP C T uc002ddx.2 MYH11_uc002ddv.... Hybrid_Cap... view
MYLK 3 123332876 123332876 NCIH1694_LUNG 37 3'UTR Del T - rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
MYLK p.E1430_splice 3 123368043 123368044 NCIH1694_LUNG 37 Splice_Site_Ins Ins - G rs41431347 uc003ego.2 MYLK_uc010hrr.2... Hybrid_Cap...
NCAM1 11 112832307 112832308 NCIH1694_LUNG 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 NCIH1694_LUNG 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.QQQ1272del 20 46279815 46279823 NCIH1694_LUNG 37 In_Frame_Del Del GCAGC... - uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 NCIH1694_LUNG 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NKD2 p.HH445del 5 1038447 1038452 NCIH1694_LUNG 37 In_Frame_Del Del CACCA... - uc003jbt.1 NKD2_uc010itf.1... Hybrid_Cap...
NPR1 1 153665919 153665920 NCIH1694_LUNG 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 NCIH1694_LUNG 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAPPA p.T1006N 9 119065099 119065099 NCIH1694_LUNG 37 Missense_Mutation SNP C A uc004bjn.2 PAPPA_uc011lxp.... Hybrid_Cap... view
PAX3 2 223158653 223158653 NCIH1694_LUNG 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.L601fs 1 144915624 144915624 NCIH1694_LUNG 37 Frame_Shift_Del Del G - rs1778112 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.E243fs 1 144923729 144923729 NCIH1694_LUNG 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 NCIH1694_LUNG 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PLD1 p.I668F 3 171394618 171394618 NCIH1694_LUNG 37 Missense_Mutation SNP T A uc003fhs.2 PLD1_uc003fht.2... Hybrid_Cap... view
PPARGC1A p.R598I 4 23815313 23815313 NCIH1694_LUNG 37 Missense_Mutation SNP C A uc003gqs.2 PPARGC1A_uc003g... Hybrid_Cap... view
PREX2 p.M370I 8 68968081 68968081 NCIH1694_LUNG 37 Missense_Mutation SNP G A uc003xxv.1 PREX2_uc003xxu.... Hybrid_Cap... view
PRKCG p.H593N 19 54409583 54409583 NCIH1694_LUNG 37 Missense_Mutation SNP C A uc010yeg.1 PRKCG_uc002qcq.... Hybrid_Cap... view
PRKDC p.C1919F 8 48775097 48775097 NCIH1694_LUNG 37 Missense_Mutation SNP C A uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 NCIH1694_LUNG 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PXN p.Y33Y 12 120662095 120662095 NCIH1694_LUNG 37 Silent SNP G A uc001txt.2 PXN_uc001txv.2_... Hybrid_Cap... view
RB1 p.Q444L 13 48951169 48951169 NCIH1694_LUNG 37 Missense_Mutation SNP A T uc001vcb.2 RB1_uc010act.1_... Hybrid_Cap... view
RBL1 p.R542C 20 35672635 35672635 NCIH1694_LUNG 37 Missense_Mutation SNP G A uc002xgi.2 RBL1_uc010zvt.1... Hybrid_Cap... view
RECQL4 p.E823K 8 145738518 145738518 NCIH1694_LUNG 37 Missense_Mutation SNP C T uc003zdj.2 Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 NCIH1694_LUNG 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RELA p.V210A 11 65426257 65426257 NCIH1694_LUNG 37 Missense_Mutation SNP A G uc010ron.1 RELA_uc001ofg.2... Hybrid_Cap... view
RPS6KL1 14 75373626 75373627 NCIH1694_LUNG 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
STK31 7 23872024 23872025 NCIH1694_LUNG 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TEC 4 48139307 48139310 NCIH1694_LUNG 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TLR3 4 187003379 187003384 NCIH1694_LUNG 37 Intron Del AAAAA... - rs71665989 uc003iyq.2 TLR3_uc011ckz.1... Hybrid_Cap...
TP53 p.S261_splice 17 7577156 7577156 NCIH1694_LUNG 37 Splice_Site_SNP SNP C A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TRIP13 p.S384G 5 916035 916035 NCIH1694_LUNG 37 Missense_Mutation SNP A G uc003jbr.2 Hybrid_Cap... view
TRPS1 8 116635872 116635873 NCIH1694_LUNG 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TRRAP p.M3531R 7 98602852 98602852 NCIH1694_LUNG 37 Missense_Mutation SNP T G uc003upp.2 TRRAP_uc011kis.... Hybrid_Cap... view
TSC2 16 2138671 2138672 NCIH1694_LUNG 37 3'UTR Del AA - uc002con.2 TSC2_uc010bsd.2... Hybrid_Cap...
TTBK1 p.E771del 6 43250726 43250728 NCIH1694_LUNG 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN p.R22795G 2 179434772 179434772 NCIH1694_LUNG 37 Missense_Mutation SNP G C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
ULK2 p.R448W 17 19705189 19705189 NCIH1694_LUNG 37 Missense_Mutation SNP G A uc002gwm.3 ULK2_uc002gwn.2... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 NCIH1694_LUNG 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZAK 2 174086292 174086292 NCIH1694_LUNG 37 Intron SNP T G uc002uhz.2 ZAK_uc002uhy.2_... Hybrid_Cap... view
ZFYVE9 p.M1414V 1 52811855 52811855 NCIH1694_LUNG 37 Missense_Mutation SNP A G uc001cto.2 ZFYVE9_uc001ctp... Hybrid_Cap... view