Annotation Summary for Cell Line: JHH-2  

Cell line primary name: JHH-2
Cell line aliases:
Gender: M
Site Primary: liver
Histology: carcinoma
Hist Subtype1: hepatocellular_carcinoma
Notes:
Source: HSRRB
Expression arrays: PARES_p_NCLE_RNA_Redo_HG-U133_Plus_2_C08_257660
SNP arrays: ARLES_p_NCLE_DNAAffy2_S_GenomeWideSNP_6_F03_256126
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in JHH-2

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 JHH2_LIVER 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM28 p.F156L 8 24170983 24170983 JHH2_LIVER 37 Missense_Mutation SNP T C uc003xdy.2 ADAM28_uc003xdx... Hybrid_Cap... view
ADAM28 8 24211994 24211997 JHH2_LIVER 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 JHH2_LIVER 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 JHH2_LIVER 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347609 113347610 JHH2_LIVER 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
AMZ2 p.Q266E 17 66251886 66251886 JHH2_LIVER 37 Missense_Mutation SNP C G uc002jgs.1 AMZ2_uc002jgr.1... Hybrid_Cap... view
AR p.54_55LL>L X 66765149 66765151 JHH2_LIVER 37 In_Frame_Del Del TGC - uc004dwu.1 AR_uc011mpd.1_I... Hybrid_Cap...
ARNT p.P706L 1 150785811 150785811 JHH2_LIVER 37 Missense_Mutation SNP G A rs2275237 uc001evr.1 ARNT_uc010pck.1... Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 JHH2_LIVER 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
ATM p.P960R 11 108141831 108141831 JHH2_LIVER 37 Missense_Mutation SNP C G uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
ATR 3 142168530 142168530 JHH2_LIVER 37 Intron Del T - uc003eux.3 XRN1_uc003eus.2... Hybrid_Cap...
AURKC 19 57742531 57742532 JHH2_LIVER 37 5'UTR Ins - C uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCL2A1 15 80253390 80253390 JHH2_LIVER 37 3'UTR SNP T C uc002bfc.3 BCL2A1_uc002bfd... Hybrid_Cap... view
BCR 22 23631813 23631814 JHH2_LIVER 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BCR 22 23632777 23632778 JHH2_LIVER 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BRCA2 p.K2674N 13 32937361 32937361 JHH2_LIVER 37 Missense_Mutation SNP G T uc001uub.1 Hybrid_Cap... view
BRD2 6 32948607 32948608 JHH2_LIVER 37 3'UTR Ins - T rs1049414;rs114195059 uc010juh.2 BRD2_uc003ocn.3... Hybrid_Cap...
CACNB2 10 18828721 18828722 JHH2_LIVER 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMKV p.N13N 3 49899783 49899783 JHH2_LIVER 37 Silent SNP G A uc003cxt.1 CAMKV_uc011bcy.... Hybrid_Cap... view
CASP4 p.D52E 11 104825580 104825580 JHH2_LIVER 37 Missense_Mutation SNP G C rs2298768 uc001pid.1 CASP4_uc001pib.... Hybrid_Cap... view
CCL4 17 34432782 34432782 JHH2_LIVER 37 3'UTR SNP A T uc002hkw.1 CCL4_uc002hkx.1... Hybrid_Cap... view
CDC42BPG p.R849* 11 64601230 64601230 JHH2_LIVER 37 Nonsense_Mutation SNP G A uc001obs.3 Hybrid_Cap... view
CHRNA5 p.K71fs 15 78873257 78873261 JHH2_LIVER 37 Frame_Shift_Del Del AAAAT - uc002bdy.2 CHRNA5_uc002bdz... Hybrid_Cap...
CHRNA5 15 78885615 78885616 JHH2_LIVER 37 3'UTR Ins - TA rs72534078 uc002bdy.2 CHRNA3_uc002bea... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 JHH2_LIVER 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 JHH2_LIVER 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
DNAH8 p.D943G 6 38783389 38783389 JHH2_LIVER 37 Missense_Mutation SNP A G uc003ooe.1 Hybrid_Cap... view
DST 6 56483740 56483740 JHH2_LIVER 37 Intron SNP C T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
EIF2AK3 p.F335_splice 2 88890125 88890125 JHH2_LIVER 37 Splice_Site_SNP SNP T A uc002stc.3 Hybrid_Cap... view
ESR1 p.S561S 6 152419990 152419990 JHH2_LIVER 37 Silent SNP C A uc010kio.2 ESR1_uc003qom.3... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 JHH2_LIVER 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLCN 17 17116791 17116791 JHH2_LIVER 37 3'UTR SNP T C uc002gra.3 PLD6_uc010cpn.2... Hybrid_Cap... view
FLI1 11 128638217 128638217 JHH2_LIVER 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 JHH2_LIVER 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FNBP1 p.I325V 9 132687253 132687253 JHH2_LIVER 37 Missense_Mutation SNP T C uc004byw.1 FNBP1_uc011mbv.... Hybrid_Cap... view
FZD1 p.93_94insP 7 90894459 90894460 JHH2_LIVER 37 In_Frame_Ins Ins - CCG uc003ula.2 Hybrid_Cap...
GCK p.S110Y 7 44191907 44191907 JHH2_LIVER 37 Missense_Mutation SNP G T uc003tkk.1 GCK_uc003tkj.1_... Hybrid_Cap... view
GPR112 p.S1005* X 135428879 135428879 JHH2_LIVER 37 Nonsense_Mutation SNP C A uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 JHH2_LIVER 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GPR137 11 64037591 64037591 JHH2_LIVER 37 5'UTR SNP C A uc009ypj.1 BAD_uc001nzd.2_... Hybrid_Cap... view
GRIA3 X 122318386 122318387 JHH2_LIVER 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRK6 p.F109C 5 176859298 176859298 JHH2_LIVER 37 Missense_Mutation SNP T G uc011dfz.1 GRK6_uc003mgp.2... Hybrid_Cap... view
ILK 11 6630029 6630029 JHH2_LIVER 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 JHH2_LIVER 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLF6 10 3827389 3827389 JHH2_LIVER 37 5'UTR SNP C G uc001iha.2 KLF6_uc010qaj.1... Hybrid_Cap... view
LRP2 p.N2344del 2 170063198 170063200 JHH2_LIVER 37 In_Frame_Del Del GTT - uc002ues.2 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 JHH2_LIVER 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 JHH2_LIVER 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 JHH2_LIVER 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK8IP2 p.L599P 22 51043826 51043826 JHH2_LIVER 37 Missense_Mutation SNP T C uc003bmx.2 MAPK8IP2_uc003b... Hybrid_Cap... view
NCAM1 11 112832307 112832308 JHH2_LIVER 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 JHH2_LIVER 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279864 46279866 JHH2_LIVER 37 In_Frame_Del Del CAA - rs1132443;rs28529067 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NF1 p.Q1033R 17 29557385 29557385 JHH2_LIVER 37 Missense_Mutation SNP A G uc002hgg.2 NF1_uc002hgh.2_... Hybrid_Cap... view
NF1 p.F1037C 17 29557397 29557397 JHH2_LIVER 37 Missense_Mutation SNP T G uc002hgg.2 NF1_uc002hgh.2_... Hybrid_Cap... view
NIPBL p.S2692* 5 37064654 37064654 JHH2_LIVER 37 Nonsense_Mutation SNP C A uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap... view
NKD2 p.HHH445del 5 1038447 1038455 JHH2_LIVER 37 In_Frame_Del Del CACCA... - uc003jbt.1 NKD2_uc010itf.1... Hybrid_Cap...
NPR1 1 153665919 153665920 JHH2_LIVER 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50384978 50384978 JHH2_LIVER 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 JHH2_LIVER 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
OBSCN p.P1622L 1 228456234 228456234 JHH2_LIVER 37 Missense_Mutation SNP C T uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
OBSCN p.R2797W 1 228469825 228469825 JHH2_LIVER 37 Missense_Mutation SNP C T rs77737906 uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
OBSCN p.L2925R 1 228471240 228471240 JHH2_LIVER 37 Missense_Mutation SNP T G uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
PAX3 2 223066017 223066018 JHH2_LIVER 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 JHH2_LIVER 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDGFB 22 39621702 39621702 JHH2_LIVER 37 3'UTR SNP G A uc003axf.2 PDGFB_uc003axe.... Hybrid_Cap... view
PHKG1 p.V250I 7 56149726 56149726 JHH2_LIVER 37 Missense_Mutation SNP C T uc011kdb.1 PSPH_uc003trj.2... Hybrid_Cap... view
PIK3C2A 11 17111198 17111199 JHH2_LIVER 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PIK3R4 p.D473V 3 130452424 130452424 JHH2_LIVER 37 Missense_Mutation SNP T A uc003enj.2 Hybrid_Cap... view
PIP5K1A p.N135H 1 151204758 151204758 JHH2_LIVER 37 Missense_Mutation SNP A C uc001exj.2 PIP5K1A_uc001ex... Hybrid_Cap... view
PKDCC p.E408G 2 42284361 42284361 JHH2_LIVER 37 Missense_Mutation SNP A G uc002rsg.2 Hybrid_Cap... view
PKN1 p.S567T 19 14574916 14574916 JHH2_LIVER 37 Missense_Mutation SNP G C uc002myq.2 PKN1_uc002myp.2... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 JHH2_LIVER 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTPRU p.Q577R 1 29606134 29606134 JHH2_LIVER 37 Missense_Mutation SNP A G uc001bru.2 PTPRU_uc001brv.... Hybrid_Cap... view
RGL4 p.N206S 22 24035099 24035099 JHH2_LIVER 37 Missense_Mutation SNP A G uc002zxn.2 LOC91316_uc002z... Hybrid_Cap... view
ROBO2 3 77666937 77666937 JHH2_LIVER 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
ROS1 p.N1726S 6 117658406 117658406 JHH2_LIVER 37 Missense_Mutation SNP T C uc003pxp.1 ROS1_uc011ebi.1... Hybrid_Cap... view
SCD5 4 83581994 83581994 JHH2_LIVER 37 Intron Del C - uc003hna.2 SCD5_uc003hnb.3... Hybrid_Cap...
SEPT5 22 19709594 19709595 JHH2_LIVER 37 Intron Ins - C rs71186626 uc002zpv.1 SEPT5_uc002zpw.... Hybrid_Cap...
SH3GL1 p.F327L 19 4361723 4361723 JHH2_LIVER 37 Missense_Mutation SNP G C uc002maj.2 SH3GL1_uc002mak... Hybrid_Cap... view
SIK3 p.K591R 11 116734397 116734397 JHH2_LIVER 37 Missense_Mutation SNP T C uc001ppy.2 SIK3_uc001ppz.2... Hybrid_Cap... view
SMO p.K575M 7 128850877 128850877 JHH2_LIVER 37 Missense_Mutation SNP A T rs56383695 uc003vor.2 SMO_uc003vos.2_... Hybrid_Cap... view
STK25 2 242435659 242435662 JHH2_LIVER 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 JHH2_LIVER 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STK32C 10 134038928 134038928 JHH2_LIVER 37 Intron SNP C T uc010quu.1 STK32C_uc001lld... Hybrid_Cap... view
TAF1L p.D168G 9 32635075 32635075 JHH2_LIVER 37 Missense_Mutation SNP T C uc003zrg.1 Hybrid_Cap... view
TEC 4 48139307 48139310 JHH2_LIVER 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TLR3 p.W353* 4 187003899 187003899 JHH2_LIVER 37 Nonsense_Mutation SNP G A uc003iyq.2 TLR3_uc011ckz.1... Hybrid_Cap... view
TP63 3 189507518 189507519 JHH2_LIVER 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIM42 p.G493A 3 140407002 140407002 JHH2_LIVER 37 Missense_Mutation SNP G C uc003eto.1 Hybrid_Cap... view
TRIO p.Y1533C 5 14399163 14399163 JHH2_LIVER 37 Missense_Mutation SNP A G uc003jff.2 TRIO_uc003jfg.2... Hybrid_Cap... view
TRPS1 8 116635872 116635873 JHH2_LIVER 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN p.Y13761C 2 179479255 179479255 JHH2_LIVER 37 Missense_Mutation SNP T C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.G378W 2 179659762 179659762 JHH2_LIVER 37 Missense_Mutation SNP C A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 JHH2_LIVER 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VEGFC p.E288K 4 177608624 177608624 JHH2_LIVER 37 Missense_Mutation SNP C T uc003ius.1 Hybrid_Cap... view
WNK3 p.S1470R X 54263589 54263589 JHH2_LIVER 37 Missense_Mutation SNP G C uc004dtc.1 WNK3_uc004dtd.1... Hybrid_Cap... view
WRN p.G620L 8 30949374 30949375 JHH2_LIVER 37 Missense_Mutation DNP GG TT uc003xio.3 WRN_uc010lvk.2_... Hybrid_Cap...
XPO5 p.N259H 6 43534965 43534965 JHH2_LIVER 37 Missense_Mutation SNP T G uc003ovp.2 Hybrid_Cap... view