Annotation Summary for Cell Line: JVM-3  

Cell line primary name: JVM-3
Cell line aliases:
Gender: M
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma
Notes:
Source: DSMZ
Expression arrays: WATCH_p_NCLE_RNA8_HG-U133_Plus_2_C10_474758
SNP arrays: CHARY_p_NCLE_DNAAffy9_GenomeWideSNP_6_D08_490438
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in JVM-3

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ACACA 17 35766564 35766564 JVM3_HAEMATOPOI... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM17 2 9630245 9630245 JVM3_HAEMATOPOI... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM17 p.C423Y 2 9650184 9650184 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002qzu.2 ADAM17_uc010ewy... Hybrid_Cap... view
ADAM28 8 24211994 24211997 JVM3_HAEMATOPOI... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS2 p.M488V 5 178580545 178580545 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP T C uc003mjw.2 ADAMTS2_uc011dg... Hybrid_Cap... view
AFF3 p.E103* 2 100623865 100623865 JVM3_HAEMATOPOI... 37 Nonsense_Mutation SNP C A uc002taf.2 AFF3_uc002tag.2... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 JVM3_HAEMATOPOI... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 JVM3_HAEMATOPOI... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347609 113347610 JVM3_HAEMATOPOI... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK1 p.S942del 4 113353523 113353525 JVM3_HAEMATOPOI... 37 In_Frame_Del Del TTC - uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.1388_1389FF>F 18 56203253 56203255 JVM3_HAEMATOPOI... 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
BRAF p.K601N 7 140453132 140453132 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP T A uc003vwc.3 Hybrid_Cap... view
BRD2 6 32948599 32948599 JVM3_HAEMATOPOI... 37 3'UTR Del C - uc010juh.2 BRD2_uc003ocn.3... Hybrid_Cap...
C9ORF96 p.V30A 9 136245908 136245908 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP T C uc004cdk.2 SURF4_uc004cdj.... Hybrid_Cap... view
CAMK4 p.Y242C 5 110814102 110814102 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP A G uc011cvj.1 CAMK4_uc003kpf.... Hybrid_Cap... view
CCNG1 p.C248Y 5 162869426 162869426 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP G A uc003lzb.2 CCNG1_uc011dek.... Hybrid_Cap... view
CDK11B 1 1654066 1654068 JVM3_HAEMATOPOI... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK17 12 96674483 96674483 JVM3_HAEMATOPOI... 37 Intron SNP T C uc001tep.1 CDK17_uc009ztk.... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 JVM3_HAEMATOPOI... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHD8 p.A191T 14 21896221 21896221 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001was.1 CHD8_uc001war.1... Hybrid_Cap... view
CHIC2 4 54876132 54876132 JVM3_HAEMATOPOI... 37 3'UTR Del C - rs4437313 uc003haj.1 PDGFRA_uc003haa... Hybrid_Cap...
CXCL12 10 44873992 44873993 JVM3_HAEMATOPOI... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
EDN1 6 12290729 12290729 JVM3_HAEMATOPOI... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EP300 22 41574970 41574972 JVM3_HAEMATOPOI... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA6 3 97367230 97367231 JVM3_HAEMATOPOI... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA8 p.A190S 1 22903118 22903118 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP G T uc001bfx.1 EPHA8_uc001bfw.... Hybrid_Cap... view
ETV1 7 14028708 14028708 JVM3_HAEMATOPOI... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
F12 5 176836531 176836532 JVM3_HAEMATOPOI... 37 5'UTR DNP CA TG rs1801020 uc003mgo.3 F12_uc010jkl.2_... Hybrid_Cap...
FLI1 11 128638217 128638217 JVM3_HAEMATOPOI... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FMN2 1 240637549 240637550 JVM3_HAEMATOPOI... 37 3'UTR Del AT - uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 JVM3_HAEMATOPOI... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 JVM3_HAEMATOPOI... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 JVM3_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C p.I1030M 12 14766183 14766183 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP A C uc001rcd.2 Hybrid_Cap... view
GUCY2C 12 14827464 14827466 JVM3_HAEMATOPOI... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 JVM3_HAEMATOPOI... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 JVM3_HAEMATOPOI... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 JVM3_HAEMATOPOI... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
JAG2 p.M597I 14 105615389 105615389 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001yqg.2 JAG2_uc010axf.2... Hybrid_Cap... view
LAMA1 p.D177D 18 7050750 7050750 JVM3_HAEMATOPOI... 37 Silent SNP A G uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LRP1 p.R4153C 12 57603829 57603829 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001snd.2 Hybrid_Cap... view
LRP1B p.L3017I 2 141250248 141250248 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP A T uc002tvj.1 Hybrid_Cap... view
MAF 16 79628537 79628537 JVM3_HAEMATOPOI... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAF 16 79628325 79628325 JVM3_HAEMATOPOI... 37 3'UTR Del A - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAP2K4 p.I395T 17 12044528 12044528 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP T C uc002gnk.2 MAP2K4_uc002gnj... Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 JVM3_HAEMATOPOI... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 JVM3_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 JVM3_HAEMATOPOI... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAST4 p.P2252S 5 66462328 66462328 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP C T uc003jut.1 MAST4_uc003juw.... Hybrid_Cap... view
MCM4 p.E181K 8 48875363 48875363 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP G A uc003xqk.1 PRKDC_uc003xqi.... Hybrid_Cap... view
MMP20 p.R323W 11 102465475 102465475 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001phc.2 Hybrid_Cap... view
MSH3 p.AAA58del 5 79950709 79950717 JVM3_HAEMATOPOI... 37 In_Frame_Del Del GCAGC... - rs67658031;rs2431220 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
NCAM1 11 112832307 112832308 JVM3_HAEMATOPOI... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 JVM3_HAEMATOPOI... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAPD3 p.F702S 11 134055362 134055362 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP A G uc001qhd.1 NCAPD3_uc010scm... Hybrid_Cap... view
NCOA3 20 46282339 46282340 JVM3_HAEMATOPOI... 37 3'UTR Ins - AT uc002xtk.2 NCOA3_uc002xtl.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 JVM3_HAEMATOPOI... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 JVM3_HAEMATOPOI... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NPM1 5 170837734 170837734 JVM3_HAEMATOPOI... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 JVM3_HAEMATOPOI... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
OBSCN p.G5298S 1 228521319 228521319 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP G A uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
PARP9 p.K232R 3 122274428 122274428 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP T C uc010hri.2 PARP9_uc003eff.... Hybrid_Cap... view
PAX3 2 223158653 223158653 JVM3_HAEMATOPOI... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.Q1665fs 1 144873963 144873963 JVM3_HAEMATOPOI... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PHIP 6 79650265 79650266 JVM3_HAEMATOPOI... 37 3'UTR Ins - TT rs70977753;rs13191571 uc003pir.2 PHIP_uc003piq.2... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 JVM3_HAEMATOPOI... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3C2G 12 18800990 18800990 JVM3_HAEMATOPOI... 37 3'UTR Del A - rs16914368 uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3R1 5 67584340 67584341 JVM3_HAEMATOPOI... 37 Intron Ins - CGAGC rs72310992 uc003jva.2 PIK3R1_uc003jvb... Hybrid_Cap...
PRAME p.A217T 22 22892452 22892452 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002zwf.2 LOC96610_uc011a... Hybrid_Cap... view
PRKCE p.E328Q 2 46231696 46231696 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP G C uc002rut.2 Hybrid_Cap... view
PRKD3 2 37480319 37480320 JVM3_HAEMATOPOI... 37 Stop_Codon_Ins Ins - T rs79875666 uc002rqd.2 Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 JVM3_HAEMATOPOI... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKG1 10 52751088 52751089 JVM3_HAEMATOPOI... 37 5'UTR Ins - GCT rs67900156;rs71029335 uc001jjm.2 PRKG1_uc010qhp.... Hybrid_Cap...
PTK2 p.I296I 8 141828421 141828421 JVM3_HAEMATOPOI... 37 Silent SNP G T uc003yvt.2 PTK2_uc003yvq.2... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 JVM3_HAEMATOPOI... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RIMS2 p.S66F 8 104897690 104897690 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP C T uc003yls.2 RIMS2_uc003ylp.... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 JVM3_HAEMATOPOI... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 JVM3_HAEMATOPOI... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SERPINB4 p.L174fs 18 61306960 61306960 JVM3_HAEMATOPOI... 37 Frame_Shift_Del Del G - uc002ljf.2 SERPINB4_uc002l... Hybrid_Cap...
SMC2 p.G1042R 9 106896711 106896711 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP G A uc004bbv.2 SMC2_uc004bbw.2... Hybrid_Cap... view
SNAPC5 15 66782727 66782727 JVM3_HAEMATOPOI... 37 3'UTR SNP C T rs41315966 uc002apu.1 MAP2K1_uc010bhq... Hybrid_Cap... view
STK31 7 23872024 23872025 JVM3_HAEMATOPOI... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TEC 4 48139307 48139310 JVM3_HAEMATOPOI... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TGFB2 1 218519928 218519929 JVM3_HAEMATOPOI... 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
THBS3 p.G654R 1 155168314 155168314 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001fix.2 RAG1AP1_uc010pe... Hybrid_Cap... view
TMEM123 11 102269398 102269398 JVM3_HAEMATOPOI... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TP63 p.E63* 3 189455653 189455653 JVM3_HAEMATOPOI... 37 Nonsense_Mutation SNP G T uc003fry.2 TP63_uc003frx.2... Hybrid_Cap... view
TPR p.V1171I 1 186313129 186313129 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001grv.2 Hybrid_Cap... view
TRAF6 p.N350S 11 36511908 36511908 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP T C uc001mwr.1 TRAF6_uc001mws.... Hybrid_Cap... view
TRIM33 1 114940211 114940212 JVM3_HAEMATOPOI... 37 3'UTR Ins - T rs66490349 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRPS1 8 116635872 116635873 JVM3_HAEMATOPOI... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTBK1 p.E771del 6 43250726 43250728 JVM3_HAEMATOPOI... 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN p.G28156D 2 179414182 179414182 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UNC13C p.E1198del 15 54556507 54556509 JVM3_HAEMATOPOI... 37 In_Frame_Del Del AAG - uc002ack.2 UNC13C_uc002acl... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 JVM3_HAEMATOPOI... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WHSC1 p.K1349M 4 1980584 1980584 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP A T uc003gdz.3 WHSC1_uc003geb.... Hybrid_Cap... view
YES1 p.A378V 18 739739 739739 JVM3_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002kky.2 YES1_uc002kkz.2... Hybrid_Cap... view
ZFYVE9 1 52811908 52811908 JVM3_HAEMATOPOI... 37 3'UTR SNP A T uc001cto.2 ZFYVE9_uc001ctp... Hybrid_Cap... view