Annotation Summary for Cell Line: SNU-423  

Cell line primary name: SNU-423
Cell line aliases: NCI-SNU-423
Gender: M
Site Primary: liver
Histology: carcinoma
Hist Subtype1: hepatocellular_carcinoma
Notes:
Source: ATCC
Expression arrays: CASED_p_NCLE_RNA4_HG-U133_Plus_2_G06_383654
SNP arrays: LOBBY_p_NCLE_DNAAffy6_GenomeWideSNP_6_B08_437310
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SNU-423

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
AAK1 2 69702913 69702913 SNU423_LIVER 37 3'UTR SNP T A rs60198736 uc002sfp.2 Hybrid_Cap... view
AAK1 p.541_542QQ>Q 2 69741754 69741756 SNU423_LIVER 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM28 8 24211994 24211997 SNU423_LIVER 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADCK1 p.S125T 14 78325573 78325573 SNU423_LIVER 37 Missense_Mutation SNP G C uc001xui.2 ADCK1_uc010tvo.... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 SNU423_LIVER 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK1 4 113347609 113347610 SNU423_LIVER 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 SNU423_LIVER 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ALPK2 18 56148993 56148993 SNU423_LIVER 37 3'UTR SNP T C uc002lhj.3 Hybrid_Cap... view
ARHGDIB 12 15095275 15095275 SNU423_LIVER 37 3'UTR SNP G A uc001rcq.1 ARHGDIB_uc001rc... Hybrid_Cap... view
ARID1A p.G623* 1 27059230 27059230 SNU423_LIVER 37 Nonsense_Mutation SNP G T uc001bmv.1 ARID1A_uc001bmt... Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 SNU423_LIVER 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
ASTN1 p.G921S 1 176863877 176863877 SNU423_LIVER 37 Missense_Mutation SNP C T uc001glc.2 ASTN1_uc001glb.... Hybrid_Cap... view
AURKA p.Y219fs 20 54956539 54956539 SNU423_LIVER 37 Frame_Shift_Del Del A - uc002xxd.1 AURKA_uc002xxe.... Hybrid_Cap...
AURKC 19 57742494 57742507 SNU423_LIVER 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
CARS 11 3023193 3023193 SNU423_LIVER 37 Intron SNP T C uc001lxf.2 CARS_uc009ydu.2... Hybrid_Cap... view
CASP8 2 202151464 202151464 SNU423_LIVER 37 3'UTR SNP G A uc002uxt.1 CASP8_uc002uxp.... Hybrid_Cap... view
CD160 1 145696330 145696330 SNU423_LIVER 37 3'UTR SNP A G uc001eol.1 NBPF10_uc001emp... Hybrid_Cap... view
CDK17 12 96673940 96673940 SNU423_LIVER 37 3'UTR SNP A G uc001tep.1 Hybrid_Cap... view
CHRNA5 15 78885615 78885616 SNU423_LIVER 37 3'UTR Ins - TA rs72534078 uc002bdy.2 CHRNA3_uc002bea... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 SNU423_LIVER 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 SNU423_LIVER 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CSF1R p.L536V 5 149447798 149447798 SNU423_LIVER 37 Missense_Mutation SNP G C rs55942044 uc003lrl.2 CSF1R_uc011dcd.... Hybrid_Cap... view
CTNNB1 3 41275492 41275492 SNU423_LIVER 37 Intron SNP G A uc010hia.1 CTNNB1_uc003ckp... Hybrid_Cap... view
DAPK1 9 90262146 90262146 SNU423_LIVER 37 Intron SNP G A uc004apc.2 DAPK1_uc004ape.... Hybrid_Cap... view
DAPK1 9 90262193 90262193 SNU423_LIVER 37 Intron SNP T C uc004apc.2 DAPK1_uc004ape.... Hybrid_Cap... view
DNAH8 p.A46E 6 38704868 38704868 SNU423_LIVER 37 Missense_Mutation SNP C A uc003ooe.1 Hybrid_Cap... view
DOCK3 p.R251L 3 51183985 51183985 SNU423_LIVER 37 Missense_Mutation SNP G T uc011bds.1 Hybrid_Cap... view
EDN1 6 12290729 12290729 SNU423_LIVER 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EPHA6 3 97367230 97367231 SNU423_LIVER 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA8 1 22928330 22928330 SNU423_LIVER 37 3'UTR SNP A G uc001bfx.1 Hybrid_Cap... view
EPHB6 p.P349S 7 142563328 142563328 SNU423_LIVER 37 Missense_Mutation SNP C T uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap... view
ESR2 14 64749738 64749738 SNU423_LIVER 37 5'UTR SNP G C uc001xha.1 ESR2_uc001xgu.2... Hybrid_Cap... view
ETV1 7 14028708 14028708 SNU423_LIVER 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FANCA p.A280S 16 89865629 89865629 SNU423_LIVER 37 Missense_Mutation SNP C A uc002fou.1 FANCA_uc010vpn.... Hybrid_Cap... view
FBN2 p.E1038D 5 127681152 127681152 SNU423_LIVER 37 Missense_Mutation SNP C G uc003kuu.2 FBN2_uc003kuv.2... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 SNU423_LIVER 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 SNU423_LIVER 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLNB p.D2272N 3 58140604 58140604 SNU423_LIVER 37 Missense_Mutation SNP G A uc010hne.2 FLNB_uc003djj.2... Hybrid_Cap... view
FLT1 p.E789K 13 28913428 28913428 SNU423_LIVER 37 Missense_Mutation SNP C T uc001usb.3 FLT1_uc001usa.3... Hybrid_Cap... view
FN1 2 216244182 216244185 SNU423_LIVER 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GLI1 p.F974V 12 57865443 57865443 SNU423_LIVER 37 Missense_Mutation SNP T G uc001snx.2 GLI1_uc009zpq.2... Hybrid_Cap... view
GPR112 p.S1778F X 135431198 135431198 SNU423_LIVER 37 Missense_Mutation SNP C T uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 SNU423_LIVER 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 SNU423_LIVER 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 SNU423_LIVER 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 SNU423_LIVER 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HMGA2 12 66308752 66308752 SNU423_LIVER 37 3'UTR SNP G T uc001ssu.1 HMGA2_uc001ssw.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 SNU423_LIVER 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90AB1 p.V575A 6 44219997 44219997 SNU423_LIVER 37 Missense_Mutation SNP T C uc003oxa.1 HSP90AB1_uc011d... Hybrid_Cap... view
ILK 11 6630029 6630029 SNU423_LIVER 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
IRS1 p.SS685del 2 227661396 227661401 SNU423_LIVER 37 In_Frame_Del Del TGCTG... - uc002voh.3 Hybrid_Cap...
KDM5A p.M766L 12 431713 431713 SNU423_LIVER 37 Missense_Mutation SNP T A uc001qif.1 KDM5A_uc001qie.... Hybrid_Cap... view
KLK7 19 51480672 51480675 SNU423_LIVER 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KSR2 p.E56Q 12 118298164 118298164 SNU423_LIVER 37 Missense_Mutation SNP C G uc001two.2 Hybrid_Cap... view
LATS2 13 21620222 21620223 SNU423_LIVER 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
MAML3 4 140640422 140640422 SNU423_LIVER 37 3'UTR SNP T G uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 SNU423_LIVER 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 SNU423_LIVER 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP2K6 17 67516340 67516341 SNU423_LIVER 37 Intron Ins - T uc002jij.2 MAP2K6_uc002jii... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 SNU423_LIVER 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 SNU423_LIVER 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MYCN 2 16082160 16082160 SNU423_LIVER 37 5'UTR SNP C T uc002rci.2 MYCNOS_uc002rch... Hybrid_Cap... view
MYLK 3 123332876 123332876 SNU423_LIVER 37 3'UTR Del T - rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
MYST4 p.E1104del 10 76781906 76781908 SNU423_LIVER 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
NCAM1 11 112832307 112832308 SNU423_LIVER 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SNU423_LIVER 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCKIPSD p.V137A 3 48719857 48719857 SNU423_LIVER 37 Missense_Mutation SNP A G uc003cun.2 NCKIPSD_uc003cu... Hybrid_Cap... view
NCOA3 p.Q1276del 20 46279837 46279839 SNU423_LIVER 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 SNU423_LIVER 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NLRP1 17 5417975 5417975 SNU423_LIVER 37 3'UTR SNP G A uc002gci.2 NLRP1_uc002gcg.... Hybrid_Cap... view
NPM1 5 170837734 170837734 SNU423_LIVER 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPRL2 3 50384978 50384978 SNU423_LIVER 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 SNU423_LIVER 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 SNU423_LIVER 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR3C1 5 142780419 142780419 SNU423_LIVER 37 Splice_Site_SNP SNP T A uc003lmy.2 NR3C1_uc003lmz.... Hybrid_Cap... view
PAX3 2 223066017 223066018 SNU423_LIVER 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 SNU423_LIVER 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDCD11 p.D961N 10 105184858 105184858 SNU423_LIVER 37 Missense_Mutation SNP G A rs117992169 uc001kwy.1 Hybrid_Cap... view
PDE4DIP p.L601fs 1 144915624 144915624 SNU423_LIVER 37 Frame_Shift_Del Del G - rs1778112 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.E243fs 1 144923729 144923729 SNU423_LIVER 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP 1 144994843 144994843 SNU423_LIVER 37 5'UTR SNP A C uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PGR 11 100933598 100933599 SNU423_LIVER 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3R1 5 67584340 67584341 SNU423_LIVER 37 Intron Ins - CGAGC rs72310992 uc003jva.2 PIK3R1_uc003jvb... Hybrid_Cap...
PIK3R4 p.V345F 3 130452809 130452809 SNU423_LIVER 37 Missense_Mutation SNP C A uc003enj.2 Hybrid_Cap... view
PPAPDC1B 8 38124689 38124689 SNU423_LIVER 37 Intron SNP C G uc003xlf.3 PPAPDC1B_uc003x... Hybrid_Cap... view
PPP3CA p.L215_splice 4 102015074 102015074 SNU423_LIVER 37 Splice_Site_SNP SNP T A uc011cen.1 PPP3CA_uc003hvu... Hybrid_Cap... view
PRKCA 17 64298959 64298960 SNU423_LIVER 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 SNU423_LIVER 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKG1 10 52751088 52751089 SNU423_LIVER 37 5'UTR Ins - GCT rs67900156;rs71029335 uc001jjm.2 PRKG1_uc010qhp.... Hybrid_Cap...
RABEP1 17 5286733 5286733 SNU423_LIVER 37 3'UTR SNP A G uc002gbm.3 RABEP1_uc010vsw... Hybrid_Cap... view
RASGRF1 15 79277150 79277151 SNU423_LIVER 37 Intron Ins - C rs67045840;rs77640668 uc002beq.2 RASGRF1_uc002be... Hybrid_Cap...
RASGRF2 5 80521825 80521825 SNU423_LIVER 37 3'UTR SNP G A uc003kha.1 RNU5E_uc011cto.... Hybrid_Cap... view
RBL1 p.I1021V 20 35627308 35627308 SNU423_LIVER 37 Missense_Mutation SNP T C uc002xgi.2 RBL1_uc010zvt.1... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 SNU423_LIVER 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
ROBO2 3 77666937 77666937 SNU423_LIVER 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
RPGRIP1 p.H873R 14 21794240 21794240 SNU423_LIVER 37 Missense_Mutation SNP A G uc001wag.2 RPGRIP1_uc001wa... Hybrid_Cap... view
RPS6KA5 p.Q466H 14 91365748 91365748 SNU423_LIVER 37 Missense_Mutation SNP T G uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap... view
RPS6KL1 14 75373626 75373627 SNU423_LIVER 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SLCO4A1 p.R76W 20 61288032 61288032 SNU423_LIVER 37 Missense_Mutation SNP C T uc002ydb.1 SLCO4A1_uc002yd... Hybrid_Cap... view
SMURF2 p.E361V 17 62559019 62559019 SNU423_LIVER 37 Missense_Mutation SNP T A uc002jep.1 SMURF2_uc002jeq... Hybrid_Cap... view
SOX10 22 38379354 38379354 SNU423_LIVER 37 Intron SNP G C uc003aun.1 POLR2F_uc003aum... Hybrid_Cap... view
STK25 2 242435659 242435662 SNU423_LIVER 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 SNU423_LIVER 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STRADA 17 61781331 61781332 SNU423_LIVER 37 Intron Ins - AGAACC rs66701913 uc002jbm.2 STRADA_uc002jbn... Hybrid_Cap...
TEC 4 48139307 48139310 SNU423_LIVER 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TFDP1 p.I297T 13 114290899 114290899 SNU423_LIVER 37 Missense_Mutation SNP T C uc001vtw.2 TFDP1_uc010tkd.... Hybrid_Cap... view
TFR2 p.Y197C 7 100231063 100231063 SNU423_LIVER 37 Missense_Mutation SNP T C uc003uvv.1 TFR2_uc010lhc.1... Hybrid_Cap... view
TGS1 p.P597R 8 56711720 56711720 SNU423_LIVER 37 Missense_Mutation SNP C G uc003xsj.3 TGS1_uc010lyh.2... Hybrid_Cap... view
TLK1 2 171850178 171850179 SNU423_LIVER 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TOP2B 3 25639777 25639778 SNU423_LIVER 37 3'UTR Ins - TGTT uc003cdj.2 TOP2B_uc011awm.... Hybrid_Cap...
TP53 p.Y126_splice 17 7578556 7578556 SNU423_LIVER 37 Splice_Site_SNP SNP T C uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 SNU423_LIVER 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIM37 p.G796A 17 57093160 57093160 SNU423_LIVER 37 Missense_Mutation SNP C G uc002iwy.3 TRIM37_uc002iwz... Hybrid_Cap... view
TRIP11 p.R192S 14 92487912 92487912 SNU423_LIVER 37 Missense_Mutation SNP C G uc001xzy.2 Hybrid_Cap... view
TRIP13 p.L168V 5 901513 901513 SNU423_LIVER 37 Missense_Mutation SNP C G uc003jbr.2 TRIP13_uc010ite... Hybrid_Cap... view
TTBK1 p.E771del 6 43250726 43250728 SNU423_LIVER 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN 2 179391639 179391640 SNU423_LIVER 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.S25901C 2 179425453 179425453 SNU423_LIVER 37 Missense_Mutation SNP G C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.I2978T 2 179633630 179633630 SNU423_LIVER 37 Missense_Mutation SNP A G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.E222V 2 179664556 179664556 SNU423_LIVER 37 Missense_Mutation SNP T A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TYRO3 p.A379T 15 41861103 41861103 SNU423_LIVER 37 Missense_Mutation SNP G A uc001zof.1 Hybrid_Cap... view
UBE3B 12 109927828 109927828 SNU423_LIVER 37 Intron SNP C A uc001top.2 UBE3B_uc001toq.... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 SNU423_LIVER 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WNK4 p.E723K 17 40945619 40945619 SNU423_LIVER 37 Missense_Mutation SNP G A uc002ibj.2 WNK4_uc010wgx.1... Hybrid_Cap... view
WRN p.E510D 8 30945390 30945390 SNU423_LIVER 37 Missense_Mutation SNP A T uc003xio.3 WRN_uc011lbe.1_... Hybrid_Cap... view
ZNF217 p.P823L 20 52192835 52192835 SNU423_LIVER 37 Missense_Mutation SNP G A uc002xwq.3 ZNF217_uc010gij... Hybrid_Cap... view
ZNF521 p.K156Q 18 22807416 22807416 SNU423_LIVER 37 Missense_Mutation SNP T G uc002kvk.2 ZNF521_uc010xbe... Hybrid_Cap... view
ZNF608 5 124080775 124080776 SNU423_LIVER 37 5'UTR Ins - A uc003ktq.1 ZNF608_uc003ktr... Hybrid_Cap...