Annotation Summary for Cell Line: SNU-449  

Cell line primary name: SNU-449
Cell line aliases: NCI-SNU-449
Gender: M
Site Primary: liver
Histology: carcinoma
Hist Subtype1: hepatocellular_carcinoma
Notes:
Source: ATCC
Expression arrays: AGENT_p_NCLE_RNA6_HG-U133_Plus_2_B05_436592
SNP arrays: LOBBY_p_NCLE_DNAAffy6_GenomeWideSNP_6_B09_437312
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SNU-449

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 SNU449_LIVER 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM28 p.F156L 8 24170983 24170983 SNU449_LIVER 37 Missense_Mutation SNP T C uc003xdy.2 ADAM28_uc003xdx... Hybrid_Cap... view
ADAM28 8 24211994 24211997 SNU449_LIVER 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.G473R 6 151670943 151670943 SNU449_LIVER 37 Missense_Mutation SNP G A rs74394319 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap... view
ARHGEF12 p.T1438S 11 120352044 120352044 SNU449_LIVER 37 Missense_Mutation SNP C G uc001pxl.1 ARHGEF12_uc009z... Hybrid_Cap... view
ARID1A p.1334_1335insQ 1 27100181 27100182 SNU449_LIVER 37 In_Frame_Ins Ins - GCA uc001bmv.1 ARID1A_uc001bmt... Hybrid_Cap...
ARID1A p.S2249fs 1 27107135 27107136 SNU449_LIVER 37 Frame_Shift_Ins Ins - A uc001bmv.1 ARID1A_uc001bmu... Hybrid_Cap...
ASPH 8 62577925 62577925 SNU449_LIVER 37 Intron SNP A T uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap... view
AURKC 19 57742494 57742507 SNU449_LIVER 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
AXIN1 p.R712* 16 343540 343540 SNU449_LIVER 37 Nonsense_Mutation SNP G A uc002cgp.1 AXIN1_uc002cgq.... Hybrid_Cap... view
BCL3 19 45262965 45262965 SNU449_LIVER 37 3'UTR Del C - uc010xxe.1 Hybrid_Cap...
BCR 22 23631813 23631814 SNU449_LIVER 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
C15ORF2 p.M297K 15 24921904 24921904 SNU449_LIVER 37 Missense_Mutation SNP T A uc001ywo.2 Hybrid_Cap... view
CACNB2 10 18828721 18828722 SNU449_LIVER 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMK1D p.D156G 10 12811700 12811700 SNU449_LIVER 37 Missense_Mutation SNP A G uc001ilo.2 CAMK1D_uc001iln... Hybrid_Cap... view
CAMK2A 5 149602223 149602224 SNU449_LIVER 37 3'UTR Del AC - uc003lrt.2 CAMK2A_uc003lrs... Hybrid_Cap...
CASP4 p.Y126C 11 104821821 104821821 SNU449_LIVER 37 Missense_Mutation SNP T C uc001pid.1 CASP4_uc001pib.... Hybrid_Cap... view
CCND2 12 4409204 4409204 SNU449_LIVER 37 3'UTR SNP C G uc001qmo.2 Hybrid_Cap... view
CHRNA5 15 78885615 78885616 SNU449_LIVER 37 3'UTR Ins - TA rs72534078 uc002bdy.2 CHRNA3_uc002bea... Hybrid_Cap...
CHUK 10 101949160 101949160 SNU449_LIVER 37 3'UTR SNP T G uc001kqp.2 Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 SNU449_LIVER 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN1 p.R187* 12 41323660 41323660 SNU449_LIVER 37 Nonsense_Mutation SNP C T uc001rmm.1 CNTN1_uc009zjy.... Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 SNU449_LIVER 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CSK p.D159Y 15 75092765 75092765 SNU449_LIVER 37 Missense_Mutation SNP G T uc010bkb.1 CSK_uc002ays.2_... Hybrid_Cap... view
CXCR7 2 237490325 237490325 SNU449_LIVER 37 3'UTR SNP G A uc010fyq.2 CXCR7_uc002vwd.... Hybrid_Cap... view
CYP27B1 p.R255Q 12 58158820 58158820 SNU449_LIVER 37 Missense_Mutation SNP C T uc001spz.1 CYP27B1_uc001sq... Hybrid_Cap... view
DGKB 7 14216345 14216346 SNU449_LIVER 37 Intron Ins - AGACT uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
DIP2C 10 428447 428448 SNU449_LIVER 37 Intron Del AG - uc001ifp.2 DIP2C_uc009xhj.... Hybrid_Cap...
DYRK1B p.R359K 19 40317944 40317944 SNU449_LIVER 37 Missense_Mutation SNP C T uc002omj.2 DYRK1B_uc002omi... Hybrid_Cap... view
DYRK4 p.K158Q 12 4702176 4702176 SNU449_LIVER 37 Missense_Mutation SNP A C uc009zeh.1 DYRK4_uc001qmx.... Hybrid_Cap... view
EGF p.E1134fs 4 110932389 110932390 SNU449_LIVER 37 Frame_Shift_Ins Ins - C rs11569144 uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap...
EPHA6 3 97367230 97367231 SNU449_LIVER 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
FANCM p.IE267del 14 45618077 45618082 SNU449_LIVER 37 In_Frame_Del Del AGATA... - uc001wwd.3 FANCM_uc001wwc.... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 SNU449_LIVER 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLI1 11 128638217 128638217 SNU449_LIVER 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 SNU449_LIVER 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GRIA3 X 122318386 122318387 SNU449_LIVER 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 SNU449_LIVER 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 SNU449_LIVER 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HMMR p.A664fs 5 162917425 162917426 SNU449_LIVER 37 Frame_Shift_Ins Ins - A uc003lzh.2 HMMR_uc003lzf.2... Hybrid_Cap...
HNF1A p.S407L 12 121434456 121434456 SNU449_LIVER 37 Missense_Mutation SNP C T uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 SNU449_LIVER 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 SNU449_LIVER 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGB1 10 33197131 33197134 SNU449_LIVER 37 Intron Del CTTT - rs116966876 uc001iwq.3 ITGB1_uc001iwp.... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 SNU449_LIVER 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 SNU449_LIVER 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LNX2 p.F69V 13 28155636 28155636 SNU449_LIVER 37 Missense_Mutation SNP A C uc001url.3 LNX2_uc001urm.1... Hybrid_Cap... view
MAMDC4 p.R195* 9 139748357 139748357 SNU449_LIVER 37 Nonsense_Mutation SNP C T uc004cjs.2 MAMDC4_uc011mej... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 SNU449_LIVER 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 SNU449_LIVER 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 SNU449_LIVER 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MMP1 p.D170E 11 102667510 102667510 SNU449_LIVER 37 Missense_Mutation SNP G T uc001phi.2 MMP1_uc010ruv.1... Hybrid_Cap... view
MSMB p.W112C 10 51562391 51562391 SNU449_LIVER 37 Missense_Mutation SNP G T uc001jiq.2 PARG_uc001jih.2... Hybrid_Cap... view
MTUS2 p.S153I 13 29599263 29599263 SNU449_LIVER 37 Missense_Mutation SNP G T uc001usl.3 Hybrid_Cap... view
MYLK p.E1790del 3 123337614 123337616 SNU449_LIVER 37 In_Frame_Del Del TCT - uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
MYLK p.R152H 3 123457877 123457877 SNU449_LIVER 37 Missense_Mutation SNP C T uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap... view
MYST4 p.E1104del 10 76781906 76781908 SNU449_LIVER 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
NCAM1 11 112832307 112832308 SNU449_LIVER 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SNU449_LIVER 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAPD3 p.H260D 11 134079055 134079055 SNU449_LIVER 37 Missense_Mutation SNP G C uc001qhd.1 NCAPD3_uc010scm... Hybrid_Cap... view
NEK10 p.T712T 3 27257326 27257326 SNU449_LIVER 37 Silent SNP T C uc003cdt.1 NEK10_uc003cds.... Hybrid_Cap... view
NEK2 1 211848903 211848903 SNU449_LIVER 37 5'UTR SNP G A uc001hir.1 NEK2_uc001hiq.1... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 SNU449_LIVER 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NPM1 5 170837734 170837734 SNU449_LIVER 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 SNU449_LIVER 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NTRK1 p.D793A 1 156851421 156851421 SNU449_LIVER 37 Missense_Mutation SNP A C uc001fqh.1 NTRK1_uc001fqf.... Hybrid_Cap... view
PAPPA p.D1253V 9 119106968 119106968 SNU449_LIVER 37 Missense_Mutation SNP A T rs78854311 uc004bjn.2 PAPPA_uc011lxq.... Hybrid_Cap... view
PAX3 2 223158653 223158653 SNU449_LIVER 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP 1 144863059 144863059 SNU449_LIVER 37 Intron SNP C T rs74579974 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDGFRA 4 55131002 55131002 SNU449_LIVER 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PDK4 7 95221928 95221928 SNU449_LIVER 37 Intron Del A - uc003uoa.2 PDK4_uc003unz.2... Hybrid_Cap...
PI4K2B p.E335del 4 25265393 25265395 SNU449_LIVER 37 In_Frame_Del Del GAA - uc003grk.2 PI4K2B_uc011bxs... Hybrid_Cap...
PIK3C2A 11 17111198 17111199 SNU449_LIVER 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PRKCQ 10 6469948 6469948 SNU449_LIVER 37 3'UTR SNP G A rs45460199 uc001iji.1 PRKCQ_uc009xim.... Hybrid_Cap... view
PRKDC p.G2113del 8 48771415 48771417 SNU449_LIVER 37 In_Frame_Del Del CTC - uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 SNU449_LIVER 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTEN p.F241L 10 89717696 89717696 SNU449_LIVER 37 Missense_Mutation SNP T C uc001kfb.2 Hybrid_Cap... view
PTPRC p.L1219P 1 198725051 198725051 SNU449_LIVER 37 Missense_Mutation SNP T C uc001gur.1 PTPRC_uc001gus.... Hybrid_Cap... view
RASGRF1 p.Y1059H 15 79284037 79284037 SNU449_LIVER 37 Missense_Mutation SNP A G uc002beq.2 RASGRF1_uc002be... Hybrid_Cap... view
RBPJ p.R238* 4 26426291 26426291 SNU449_LIVER 37 Nonsense_Mutation SNP C T rs5007634 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 SNU449_LIVER 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RIF1 p.E1562del 2 152320713 152320715 SNU449_LIVER 37 In_Frame_Del Del AAG - uc002txm.2 RIF1_uc002txl.2... Hybrid_Cap...
RIOK1 p.H553fs 6 7417625 7417626 SNU449_LIVER 37 Frame_Shift_Del Del AT - uc003mxn.2 RIOK1_uc003mxo.... Hybrid_Cap...
SACS p.S832P 13 23915521 23915521 SNU449_LIVER 37 Missense_Mutation SNP A G uc001uon.2 SACS_uc001uoo.2... Hybrid_Cap... view
SGK269 p.L1507R 15 77407219 77407219 SNU449_LIVER 37 Missense_Mutation SNP A C uc002bcm.2 Hybrid_Cap... view
SMURF2 17 62541851 62541852 SNU449_LIVER 37 3'UTR Del AG - rs67889006;rs2872314 uc002jep.1 SMURF2_uc002jeq... Hybrid_Cap...
STIL 1 47748185 47748185 SNU449_LIVER 37 Intron SNP T C uc001crd.1 TAL1_uc001crb.1... Hybrid_Cap... view
STK17B p.N102Y 2 197021194 197021194 SNU449_LIVER 37 Missense_Mutation SNP T A uc002utk.2 STK17B_uc010fsh... Hybrid_Cap... view
TEC 4 48139307 48139310 SNU449_LIVER 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TG p.C608Y 8 133899440 133899440 SNU449_LIVER 37 Missense_Mutation SNP G A uc003ytw.2 Hybrid_Cap... view
TLE1 9 84202837 84202838 SNU449_LIVER 37 Intron Ins - TGTCATCCCGCC rs5898748 uc004alz.2 TLE1_uc004aly.2... Hybrid_Cap...
TLK1 2 171850178 171850179 SNU449_LIVER 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TLN1 p.A2218V 9 35700195 35700195 SNU449_LIVER 37 Missense_Mutation SNP G A uc003zxt.2 Hybrid_Cap... view
TMEM123 11 102269398 102269398 SNU449_LIVER 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TMEM200A p.I450F 6 130762915 130762915 SNU449_LIVER 37 Missense_Mutation SNP A T uc003qca.2 TMEM200A_uc010k... Hybrid_Cap... view
TP53 p.A161T 17 7578449 7578449 SNU449_LIVER 37 Missense_Mutation SNP C T uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 SNU449_LIVER 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIM37 p.N694S 17 57105952 57105952 SNU449_LIVER 37 Missense_Mutation SNP T C uc002iwy.3 TRIM37_uc002iwz... Hybrid_Cap... view
TTN 2 179391639 179391640 SNU449_LIVER 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.L30235P 2 179404384 179404384 SNU449_LIVER 37 Missense_Mutation SNP A G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.T7587I 2 179578893 179578893 SNU449_LIVER 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 SNU449_LIVER 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
XPC p.G846A 3 14188857 14188857 SNU449_LIVER 37 Missense_Mutation SNP C G rs55779831 uc011ave.1 XPC_uc011avf.1_... Hybrid_Cap... view