Annotation Summary for Cell Line: JHH-7  

Cell line primary name: JHH-7
Cell line aliases:
Gender: M
Site Primary: liver
Histology: carcinoma
Hist Subtype1: hepatocellular_carcinoma
Notes:
Source: HSRRB
Expression arrays: AGENT_p_NCLE_RNA6_HG-U133_Plus_2_F06_436462
SNP arrays: PODIA_p_NCLE_DNAAffy7_GenomeWideSNP_6_A12_437572
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in JHH-7

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ABCA3 p.P73L 16 2376112 2376112 JHH7_LIVER 37 Missense_Mutation SNP G A uc002cpy.1 ABCA3_uc010bsk.... Hybrid_Cap... view
ABCC3 p.N716Y 17 48746794 48746794 JHH7_LIVER 37 Missense_Mutation SNP A T uc002isl.2 Hybrid_Cap... view
ADAM12 10 127730648 127730648 JHH7_LIVER 37 Intron SNP G A uc001ljk.2 ADAM12_uc010qul... Hybrid_Cap... view
ADAM18 p.Q254* 8 39495155 39495155 JHH7_LIVER 37 Nonsense_Mutation SNP C T uc003xni.2 ADAM18_uc010lww... Hybrid_Cap... view
ADAM28 8 24211994 24211997 JHH7_LIVER 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS20 p.C1219F 12 43822333 43822333 JHH7_LIVER 37 Missense_Mutation SNP C A uc010skx.1 ADAMTS20_uc001r... Hybrid_Cap... view
AFF3 p.D703Y 2 100210091 100210091 JHH7_LIVER 37 Missense_Mutation SNP C A uc002taf.2 AFF3_uc002tag.2... Hybrid_Cap... view
AIM1 p.R783C 6 106968654 106968654 JHH7_LIVER 37 Missense_Mutation SNP C T uc003prh.2 Hybrid_Cap... view
AKAP9 p.1335_1336insQ 7 91652178 91652179 JHH7_LIVER 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347609 113347610 JHH7_LIVER 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.A1207G 18 56203799 56203799 JHH7_LIVER 37 Missense_Mutation SNP G C uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap... view
ALPK2 p.EDTST1006del 18 56204388 56204402 JHH7_LIVER 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ALPK3 p.Q1486E 15 85402506 85402506 JHH7_LIVER 37 Missense_Mutation SNP C G uc002ble.2 Hybrid_Cap... view
APAF1 p.L61V 12 99042446 99042446 JHH7_LIVER 37 Missense_Mutation SNP C G uc001tfz.2 APAF1_uc001tfy.... Hybrid_Cap... view
ASTN1 p.G339C 1 176998875 176998875 JHH7_LIVER 37 Missense_Mutation SNP C A uc001glc.2 ASTN1_uc001glb.... Hybrid_Cap... view
AURKC 19 57742494 57742507 JHH7_LIVER 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BAX 19 49464486 49464486 JHH7_LIVER 37 3'UTR Del C - uc002plf.1 BAX_uc002plg.1_... Hybrid_Cap...
BCL9 p.L785I 1 147092314 147092314 JHH7_LIVER 37 Missense_Mutation SNP C A uc001epq.2 BCL9_uc010ozr.1... Hybrid_Cap... view
BMP4 14 54416602 54416602 JHH7_LIVER 37 3'UTR Del T - rs76335800 uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap...
BRCA1 p.L137I 17 41256171 41256171 JHH7_LIVER 37 Missense_Mutation SNP G T uc002ict.2 BRCA1_uc010whp.... Hybrid_Cap... view
BRCA2 p.T582P 13 32907359 32907359 JHH7_LIVER 37 Missense_Mutation SNP A C rs80358457 uc001uub.1 BRCA2_uc001uua.... Hybrid_Cap... view
CAD 2 27466496 27466496 JHH7_LIVER 37 3'UTR SNP A G uc002rji.2 CAD_uc010eyw.2_... Hybrid_Cap... view
CCNA2 p.D82N 4 122743771 122743771 JHH7_LIVER 37 Missense_Mutation SNP C T uc003iec.3 Hybrid_Cap... view
CCNT1 12 49110539 49110539 JHH7_LIVER 37 5'UTR SNP G C uc001rse.1 CCNT1_uc009zkz.... Hybrid_Cap... view
CCR5 p.A278V 3 46415226 46415226 JHH7_LIVER 37 Missense_Mutation SNP C T uc003cpo.3 CCR5_uc010hjd.2... Hybrid_Cap... view
CDK11B 1 1654066 1654068 JHH7_LIVER 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CFI 4 110723298 110723298 JHH7_LIVER 37 5'UTR SNP C T uc011cft.1 CFI_uc003hzr.3_... Hybrid_Cap... view
CHRNA5 15 78885615 78885616 JHH7_LIVER 37 3'UTR Ins - TA rs72534078 uc002bdy.2 CHRNA3_uc002bea... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 JHH7_LIVER 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 JHH7_LIVER 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CSMD3 p.D2032V 8 113392622 113392622 JHH7_LIVER 37 Missense_Mutation SNP T A uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSNK1A1 p.Q56K 5 148929702 148929702 JHH7_LIVER 37 Missense_Mutation SNP G T uc003lqw.1 CSNK1A1_uc011dc... Hybrid_Cap... view
CUBN p.D1908E 10 16980971 16980971 JHH7_LIVER 37 Missense_Mutation SNP G T uc001ioo.2 Hybrid_Cap... view
DGKB 7 14216345 14216346 JHH7_LIVER 37 Intron Ins - AGACT uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
DNAH8 6 38952247 38952248 JHH7_LIVER 37 Intron Del CA - uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap...
DST p.R666C 6 56505336 56505336 JHH7_LIVER 37 Missense_Mutation SNP G A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DVL1 p.P383L 1 1274018 1274018 JHH7_LIVER 37 Missense_Mutation SNP G A uc001aer.3 DVL1_uc002quu.2... Hybrid_Cap... view
DVL1 p.A156A 1 1277184 1277184 JHH7_LIVER 37 Silent SNP G A uc001aer.3 DVL1_uc002quu.2... Hybrid_Cap... view
EDNRB p.E153K 13 78492501 78492501 JHH7_LIVER 37 Missense_Mutation SNP C T uc001vkp.1 EDNRB_uc001vkq.... Hybrid_Cap... view
EGF p.E1134fs 4 110932389 110932390 JHH7_LIVER 37 Frame_Shift_Ins Ins - C rs11569144 uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap...
ELAVL1 19 8028282 8028282 JHH7_LIVER 37 3'UTR SNP G A uc002mjb.2 Hybrid_Cap... view
EPHA1 p.D719Y 7 143092098 143092098 JHH7_LIVER 37 Missense_Mutation SNP C A uc003wcz.2 Hybrid_Cap... view
EPHA4 p.T326N 2 222365739 222365739 JHH7_LIVER 37 Missense_Mutation SNP G T uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap... view
EPHA7 6 94129130 94129130 JHH7_LIVER 37 5'UTR SNP G A uc003poe.2 EPHA7_uc003pof.... Hybrid_Cap... view
EPHB1 p.R905C 3 134968200 134968200 JHH7_LIVER 37 Missense_Mutation SNP C T uc003eqt.2 EPHB1_uc003equ.... Hybrid_Cap... view
ERN1 p.Y911C 17 62121550 62121550 JHH7_LIVER 37 Missense_Mutation SNP T C uc002jdz.2 Hybrid_Cap... view
ETV1 7 14028708 14028708 JHH7_LIVER 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
F12 p.R284R 5 176831365 176831365 JHH7_LIVER 37 Silent SNP G T uc003mgo.3 F12_uc011dfy.1_... Hybrid_Cap... view
FAM132A 1 1177919 1177919 JHH7_LIVER 37 3'UTR Del T - uc001adl.1 Hybrid_Cap...
FANCE p.G170W 6 35423783 35423783 JHH7_LIVER 37 Missense_Mutation SNP G T uc003oko.1 FANCE_uc010jvw.... Hybrid_Cap... view
FAS 10 90750580 90750580 JHH7_LIVER 37 5'UTR SNP C A uc001kfr.2 ACTA2_uc001kfq.... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 JHH7_LIVER 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 JHH7_LIVER 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FIP1L1 p.N428K 4 54310269 54310269 JHH7_LIVER 37 Missense_Mutation SNP T A uc003gzy.2 PDGFRA_uc003haa... Hybrid_Cap... view
FMN2 p.PGAGIPPPPPL920del 1 240370858 240370890 JHH7_LIVER 37 In_Frame_Del Del CCCGG... - uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 JHH7_LIVER 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXP1 3 71008341 71008342 JHH7_LIVER 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
FOXP1 3 71247203 71247203 JHH7_LIVER 37 Intron SNP T C uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap... view
GLI1 p.P969A 12 57865428 57865428 JHH7_LIVER 37 Missense_Mutation SNP C G uc001snx.2 GLI1_uc009zpq.2... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 JHH7_LIVER 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 JHH7_LIVER 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIA3 p.A773L X 122598956 122598957 JHH7_LIVER 37 Missense_Mutation DNP GC TT uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIK1 p.I228M 21 31045345 31045345 JHH7_LIVER 37 Missense_Mutation SNP T C uc011acs.1 GRIK1_uc002ynn.... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 JHH7_LIVER 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HCK p.L355F 20 30676420 30676420 JHH7_LIVER 37 Missense_Mutation SNP G T uc002wxh.2 HCK_uc010gdy.2_... Hybrid_Cap... view
HIF1A 14 62213929 62213930 JHH7_LIVER 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HIPK1 p.G478E 1 114499274 114499274 JHH7_LIVER 37 Missense_Mutation SNP G A uc001eem.2 HIPK1_uc001eel.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 JHH7_LIVER 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HOXA11 7 27222406 27222406 JHH7_LIVER 37 3'UTR SNP G A uc003syx.2 HOXA10_uc003syw... Hybrid_Cap... view
HOXA9 p.R233S 7 27203342 27203342 JHH7_LIVER 37 Missense_Mutation SNP C A uc003syt.2 Hybrid_Cap... view
HSP90B1 p.E791del 12 104341188 104341190 JHH7_LIVER 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
ILK 11 6630029 6630029 JHH7_LIVER 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INPP5D p.R1162H 2 234113281 234113281 JHH7_LIVER 37 Missense_Mutation SNP G A uc010zmo.1 INPP5D_uc010zmp... Hybrid_Cap... view
ITGB1 10 33197195 33197195 JHH7_LIVER 37 Intron SNP G A uc001iwq.3 ITGB1_uc001iwp.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 JHH7_LIVER 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JUNB p.D253E 19 12903344 12903344 JHH7_LIVER 37 Missense_Mutation SNP C A uc002mvc.2 JUNB_uc002mvb.2... Hybrid_Cap... view
KALRN p.D2072_splice 3 124379768 124379768 JHH7_LIVER 37 Splice_Site_SNP SNP A G uc003ehg.2 KALRN_uc003ehi.... Hybrid_Cap... view
KLK7 19 51480672 51480675 JHH7_LIVER 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LPP p.P136S 3 188242552 188242552 JHH7_LIVER 37 Missense_Mutation SNP C T uc003frs.1 LPP_uc011bsg.1_... Hybrid_Cap... view
LRP1 p.I2278V 12 57579682 57579682 JHH7_LIVER 37 Missense_Mutation SNP A G uc001snd.2 Hybrid_Cap... view
LRP1B p.V4066A 2 141092048 141092048 JHH7_LIVER 37 Missense_Mutation SNP A G uc002tvj.1 Hybrid_Cap... view
LRP1B p.M359L 2 141819781 141819781 JHH7_LIVER 37 Missense_Mutation SNP T A uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
LRRC7 p.E895D 1 70504306 70504306 JHH7_LIVER 37 Missense_Mutation SNP G T uc001dep.2 LRRC7_uc009wbg.... Hybrid_Cap... view
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 JHH7_LIVER 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 JHH7_LIVER 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 JHH7_LIVER 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP4K3 p.F333_splice 2 39536662 39536662 JHH7_LIVER 37 Splice_Site_SNP SNP T A uc002rro.2 MAP4K3_uc002rrp... Hybrid_Cap... view
MARK3 p.S396I 14 103934446 103934446 JHH7_LIVER 37 Missense_Mutation SNP G T uc001ymz.3 MARK3_uc001ymx.... Hybrid_Cap... view
MASTL p.MMSWN338del 10 27458899 27458913 JHH7_LIVER 37 In_Frame_Del Del AATGA... - uc001itm.2 MASTL_uc001itl.... Hybrid_Cap...
MCM4 8 48889495 48889495 JHH7_LIVER 37 3'UTR SNP G C uc003xqk.1 MCM4_uc003xql.1... Hybrid_Cap... view
MLL3 p.Y4246C 7 151848022 151848022 JHH7_LIVER 37 Missense_Mutation SNP T C uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MN1 p.P121L 22 28196170 28196170 JHH7_LIVER 37 Missense_Mutation SNP G A uc003adj.2 Hybrid_Cap... view
MPL 1 43818522 43818522 JHH7_LIVER 37 3'UTR SNP C A uc001ciw.2 MPL_uc009vwr.2_... Hybrid_Cap... view
MSH2 p.Q419K 2 47657059 47657059 JHH7_LIVER 37 Missense_Mutation SNP C A uc002rvz.2 MSH2_uc010yoh.1... Hybrid_Cap... view
MSH3 p.PPA66del 5 79950742 79950750 JHH7_LIVER 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MYLK 3 123332876 123332876 JHH7_LIVER 37 3'UTR Del T - rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
MYLK4 p.I315V 6 2678551 2678551 JHH7_LIVER 37 Missense_Mutation SNP T C uc003mty.3 MYLK4_uc003mtx.... Hybrid_Cap... view
MYO3B 2 171376190 171376190 JHH7_LIVER 37 Intron SNP G A uc002ufy.2 MYO3B_uc002ufv.... Hybrid_Cap... view
MYST4 p.E1104del 10 76781906 76781908 JHH7_LIVER 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
NCAM1 11 112832307 112832308 JHH7_LIVER 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 JHH7_LIVER 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NLRP10 p.P9T 11 7985018 7985018 JHH7_LIVER 37 Missense_Mutation SNP G T uc001mfv.1 Hybrid_Cap... view
NLRP3 1 247611940 247611940 JHH7_LIVER 37 3'UTR SNP G C uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap... view
NOS2 17 26084268 26084268 JHH7_LIVER 37 3'UTR SNP G A uc002gzu.2 Hybrid_Cap... view
NOS3 p.G1071C 7 150710423 150710423 JHH7_LIVER 37 Missense_Mutation SNP G T uc003wif.2 NOS3_uc011kuy.1... Hybrid_Cap... view
NOTCH4 p.16_16L>LL 6 32191658 32191659 JHH7_LIVER 37 In_Frame_Ins Ins - AGC rs67287835 uc003obb.2 NOTCH4_uc011dpu... Hybrid_Cap...
NPAT p.L360* 11 108047026 108047026 JHH7_LIVER 37 Nonsense_Mutation SNP A T uc001pjz.3 NPAT_uc001pka.2... Hybrid_Cap... view
NPM1 5 170837734 170837734 JHH7_LIVER 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 JHH7_LIVER 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
PAX3 2 223158653 223158653 JHH7_LIVER 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PCDH15 p.S1957I 10 55581637 55581637 JHH7_LIVER 37 Missense_Mutation SNP C A uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap... view
PDCD11 p.P1487L 10 105200510 105200510 JHH7_LIVER 37 Missense_Mutation SNP C T uc001kwy.1 Hybrid_Cap... view
PDE4DIP p.Q2037R 1 144859974 144859974 JHH7_LIVER 37 Missense_Mutation SNP T C uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDE4DIP p.L601fs 1 144915624 144915624 JHH7_LIVER 37 Frame_Shift_Del Del G - rs1778112 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.E243fs 1 144923729 144923729 JHH7_LIVER 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PGGT1B 5 114548071 114548072 JHH7_LIVER 37 3'UTR Ins - C uc003kqw.3 PGGT1B_uc003kqx... Hybrid_Cap...
PGGT1B p.L151F 5 114573581 114573581 JHH7_LIVER 37 Missense_Mutation SNP C G uc003kqw.3 PGGT1B_uc003kqx... Hybrid_Cap... view
PIK3C2A 11 17111198 17111199 JHH7_LIVER 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 JHH7_LIVER 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3C3 18 39629656 39629656 JHH7_LIVER 37 Intron SNP G A uc002lap.2 PIK3C3_uc010xcl... Hybrid_Cap... view
PKDCC p.E408G 2 42284361 42284361 JHH7_LIVER 37 Missense_Mutation SNP A G uc002rsg.2 Hybrid_Cap... view
PREX2 p.I231S 8 68942880 68942880 JHH7_LIVER 37 Missense_Mutation SNP T G uc003xxv.1 PREX2_uc003xxu.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 JHH7_LIVER 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RBPJ 4 26431822 26431822 JHH7_LIVER 37 Intron Del A - rs76214390 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap...
RHOA 3 49397568 49397569 JHH7_LIVER 37 3'UTR Ins - A rs8179163;rs74809549 uc003cwu.2 RHOA_uc010hku.2... Hybrid_Cap...
RIF1 p.K449N 2 152293492 152293492 JHH7_LIVER 37 Missense_Mutation SNP G C uc002txm.2 RIF1_uc002txl.2... Hybrid_Cap... view
ROBO2 3 77666937 77666937 JHH7_LIVER 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
ROS1 p.Y1353S 6 117677875 117677875 JHH7_LIVER 37 Missense_Mutation SNP T G rs35269727 uc003pxp.1 ROS1_uc011ebi.1... Hybrid_Cap... view
ROS1 p.W133R 6 117725484 117725484 JHH7_LIVER 37 Missense_Mutation SNP A G uc003pxp.1 ROS1_uc011ebi.1... Hybrid_Cap... view
RPGRIP1 p.S601L 14 21792816 21792816 JHH7_LIVER 37 Missense_Mutation SNP C T rs3748360 uc001wag.2 RPGRIP1_uc001wa... Hybrid_Cap... view
RPS6KA1 p.S81A 1 26873463 26873463 JHH7_LIVER 37 Missense_Mutation SNP T G uc001bms.1 RPS6KA1_uc001bm... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 JHH7_LIVER 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KC1 p.G84G 1 213251148 213251148 JHH7_LIVER 37 Silent SNP A T uc010ptr.1 RPS6KC1_uc001hk... Hybrid_Cap... view
RPS6KL1 14 75373626 75373627 JHH7_LIVER 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
RPTOR 17 78519274 78519275 JHH7_LIVER 37 5'UTR Del TT - uc002jyt.1 RPTOR_uc002jys.... Hybrid_Cap...
SACS p.R2967C 13 23909116 23909116 JHH7_LIVER 37 Missense_Mutation SNP G A uc001uon.2 SACS_uc001uoo.2... Hybrid_Cap... view
SCYL1 p.E55K 11 65293096 65293096 JHH7_LIVER 37 Missense_Mutation SNP G A uc001oea.1 SCYL1_uc009yqk.... Hybrid_Cap... view
SEPT9 17 75478496 75478496 JHH7_LIVER 37 Intron SNP G A uc002jts.3 SEPT9_uc010wtk.... Hybrid_Cap... view
SPEG p.V991M 2 220331985 220331985 JHH7_LIVER 37 Missense_Mutation SNP G A uc010fwg.2 Hybrid_Cap... view
SPTAN1 p.A1514T 9 131371201 131371201 JHH7_LIVER 37 Missense_Mutation SNP G A uc004bvm.3 SPTAN1_uc004bvl... Hybrid_Cap... view
SRPK1 p.G476E 6 35836872 35836872 JHH7_LIVER 37 Missense_Mutation SNP C T uc003olj.2 SRPK1_uc011dtg.... Hybrid_Cap... view
STRADA 17 61780813 61780813 JHH7_LIVER 37 3'UTR SNP C T uc002jbm.2 LIMD2_uc002jbl.... Hybrid_Cap... view
TCF21 p.N82H 6 134210779 134210779 JHH7_LIVER 37 Missense_Mutation SNP A C uc003qei.3 TCF21_uc003qej.... Hybrid_Cap... view
TEC 4 48139307 48139310 JHH7_LIVER 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TESK2 1 45810488 45810488 JHH7_LIVER 37 3'UTR SNP A G uc001cns.1 TESK2_uc009vxr.... Hybrid_Cap... view
TIAM1 p.S1465R 21 32493067 32493067 JHH7_LIVER 37 Missense_Mutation SNP G T uc002yow.1 TIAM1_uc011adk.... Hybrid_Cap... view
TMEM123 11 102269509 102269509 JHH7_LIVER 37 3'UTR SNP A C uc001pha.2 TMEM123_uc009yx... Hybrid_Cap... view
TNK2 p.E547_splice 3 195597077 195597077 JHH7_LIVER 37 Splice_Site_SNP SNP C T uc003fvt.1 TNK2_uc003fvq.1... Hybrid_Cap... view
TP53 p.R267P 17 7577138 7577138 JHH7_LIVER 37 Missense_Mutation SNP C G uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TRIB3 p.P142R 20 371983 371983 JHH7_LIVER 37 Missense_Mutation SNP C G rs70961720 uc002wdn.2 TRIB3_uc002wdm.... Hybrid_Cap... view
TRIM33 1 114940215 114940216 JHH7_LIVER 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRIO p.L2446F 5 14488073 14488073 JHH7_LIVER 37 Missense_Mutation SNP C T uc003jff.2 TRIO_uc003jfg.2... Hybrid_Cap... view
TRPM6 9 77442675 77442675 JHH7_LIVER 37 Intron SNP G C uc004ajl.1 TRPM6_uc004ajk.... Hybrid_Cap... view
TTN 2 179391639 179391640 JHH7_LIVER 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.T19794A 2 179444930 179444930 JHH7_LIVER 37 Missense_Mutation SNP T C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.Q1243P 2 179644728 179644728 JHH7_LIVER 37 Missense_Mutation SNP T G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UBR5 p.S1759T 8 103297949 103297949 JHH7_LIVER 37 Missense_Mutation SNP C G uc003ykr.1 UBR5_uc003yks.1... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 JHH7_LIVER 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZNF608 p.A946S 5 123983241 123983241 JHH7_LIVER 37 Missense_Mutation SNP C A uc003ktq.1 ZNF608_uc003ktr... Hybrid_Cap... view