Annotation Summary for Cell Line: L-363  

Cell line primary name: L-363
Cell line aliases:
Gender: F
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: plasma_cell_myeloma
Notes:
Source: DSMZ
Expression arrays: WATCH_p_NCLE_RNA8_HG-U133_Plus_2_F03_474754
SNP arrays: MISTS_p_NCLE_DNAAffy11_GenomeWideSNP_6_G06_578350
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in L-363

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 L363_HAEMATOPOI... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABL2 p.S786P 1 179078046 179078046 L363_HAEMATOPOI... 37 Missense_Mutation SNP A G uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap... view
ACACA p.K957* 17 35600349 35600349 L363_HAEMATOPOI... 37 Nonsense_Mutation SNP T A uc002hno.2 ACACA_uc002hnk.... Hybrid_Cap... view
ACACA 17 35766564 35766564 L363_HAEMATOPOI... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM17 2 9630245 9630245 L363_HAEMATOPOI... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM18 8 39468365 39468365 L363_HAEMATOPOI... 37 Intron SNP G T uc003xni.2 ADAM18_uc003xnh... Hybrid_Cap... view
ADAM28 8 24211994 24211997 L363_HAEMATOPOI... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
APAF1 p.Q1001E 12 99109247 99109247 L363_HAEMATOPOI... 37 Missense_Mutation SNP C G uc001tfz.2 APAF1_uc001tfy.... Hybrid_Cap... view
ARID1A p.Q553E 1 27057949 27057949 L363_HAEMATOPOI... 37 Missense_Mutation SNP C G uc001bmv.1 ARID1A_uc001bmt... Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 L363_HAEMATOPOI... 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
BMP4 14 54416602 54416603 L363_HAEMATOPOI... 37 3'UTR Del TT - rs76335800 uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap...
BRD2 6 32948599 32948599 L363_HAEMATOPOI... 37 3'UTR Del C - uc010juh.2 BRD2_uc003ocn.3... Hybrid_Cap...
CACNB2 10 18828721 18828722 L363_HAEMATOPOI... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CDH11 p.H161Y 16 65032507 65032507 L363_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002eoi.2 CDH11_uc010cdn.... Hybrid_Cap... view
CDK11B 1 1654066 1654068 L363_HAEMATOPOI... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 L363_HAEMATOPOI... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 L363_HAEMATOPOI... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CSPP1 p.R413* 8 68024218 68024218 L363_HAEMATOPOI... 37 Nonsense_Mutation SNP C T uc003xxi.2 CSPP1_uc003xxg.... Hybrid_Cap... view
DDR2 1 162750211 162750211 L363_HAEMATOPOI... 37 3'UTR Del T - uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap...
DFNA5 7 24783982 24783982 L363_HAEMATOPOI... 37 Intron Del C - uc010kus.1 DFNA5_uc003swz.... Hybrid_Cap...
DYRK3 p.D191N 1 206821114 206821114 L363_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001hej.2 DYRK3_uc001hek.... Hybrid_Cap... view
EIF2AK4 p.N257N 15 40254012 40254012 L363_HAEMATOPOI... 37 Silent SNP T C uc001zkm.1 EIF2AK4_uc001zk... Hybrid_Cap... view
EIF3A p.L411Q 10 120820352 120820352 L363_HAEMATOPOI... 37 Missense_Mutation SNP A T uc001ldu.2 EIF3A_uc010qsu.... Hybrid_Cap... view
EIF4E 4 99808137 99808141 L363_HAEMATOPOI... 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
ELAVL1 p.S135L 19 8038635 8038635 L363_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002mjb.2 Hybrid_Cap... view
EML4 p.D243N 2 42508049 42508049 L363_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002rsi.2 EML4_uc010fap.2... Hybrid_Cap... view
EP300 22 41574970 41574972 L363_HAEMATOPOI... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA6 3 97367230 97367231 L363_HAEMATOPOI... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ERBB3 p.E479K 12 56487289 56487289 L363_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap... view
FANCA p.E1255_splice 16 89809206 89809206 L363_HAEMATOPOI... 37 Splice_Site_SNP SNP G A uc002fou.1 FANCA_uc010vpn.... Hybrid_Cap... view
FGFR3 4 1809128 1809129 L363_HAEMATOPOI... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 L363_HAEMATOPOI... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 L363_HAEMATOPOI... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 L363_HAEMATOPOI... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 L363_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 L363_HAEMATOPOI... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
GUCY2F p.L100V X 108718868 108718868 L363_HAEMATOPOI... 37 Missense_Mutation SNP G C uc004eod.3 GUCY2F_uc011msq... Hybrid_Cap... view
HDAC2 p.81_82insS 6 114292109 114292110 L363_HAEMATOPOI... 37 In_Frame_Ins Ins - CTG uc003pwd.1 HDAC2_uc003pwc.... Hybrid_Cap...
HIF1A 14 62213929 62213930 L363_HAEMATOPOI... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HSP90B1 12 104341645 104341648 L363_HAEMATOPOI... 37 3'UTR Del ACTG - rs2307842 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
IGF1R p.D1146N 15 99482568 99482568 L363_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002bul.2 IGF1R_uc010bon.... Hybrid_Cap... view
ILK 11 6630029 6630029 L363_HAEMATOPOI... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 L363_HAEMATOPOI... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 L363_HAEMATOPOI... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LRP6 12 12273990 12273990 L363_HAEMATOPOI... 37 3'UTR SNP C A uc001rah.3 BCL2L14_uc001ra... Hybrid_Cap... view
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 L363_HAEMATOPOI... 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 L363_HAEMATOPOI... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 L363_HAEMATOPOI... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 L363_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP4K3 2 39664132 39664132 L363_HAEMATOPOI... 37 5'UTR SNP G A uc002rro.2 MAP4K3_uc002rrp... Hybrid_Cap... view
MAPKAPK2 p.40_41insP 1 206858675 206858676 L363_HAEMATOPOI... 37 In_Frame_Ins Ins - GCC uc001hem.1 MAPKAPK2_uc001h... Hybrid_Cap...
MECOM p.D452A 3 168834305 168834305 L363_HAEMATOPOI... 37 Missense_Mutation SNP T G uc011bpj.1 MECOM_uc010hwk.... Hybrid_Cap... view
MGC42105 p.P14L 5 43245918 43245918 L363_HAEMATOPOI... 37 Missense_Mutation SNP C T uc003jno.2 Hybrid_Cap... view
MLLT3 9 20346377 20346378 L363_HAEMATOPOI... 37 3'UTR Ins - A rs66943046 uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap...
MSH3 p.PPA66del 5 79950742 79950750 L363_HAEMATOPOI... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MSH6 p.E221D 2 48025785 48025785 L363_HAEMATOPOI... 37 Missense_Mutation SNP A C rs41557217 uc002rwd.3 MSH6_uc002rwc.2... Hybrid_Cap... view
MUSK p.R189Q 9 113459684 113459684 L363_HAEMATOPOI... 37 Missense_Mutation SNP G A uc004bey.2 MUSK_uc004bex.2... Hybrid_Cap... view
MYH11 p.L232V 16 15876295 15876295 L363_HAEMATOPOI... 37 Missense_Mutation SNP G C uc002ddx.2 MYH11_uc002ddv.... Hybrid_Cap... view
MYLK 3 123332875 123332876 L363_HAEMATOPOI... 37 3'UTR Ins - T rs35930843;rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
MYLK4 6 2749589 2749589 L363_HAEMATOPOI... 37 5'UTR SNP C T uc003mty.3 Hybrid_Cap... view
NAV3 p.S1507A 12 78531034 78531034 L363_HAEMATOPOI... 37 Missense_Mutation SNP T G uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 L363_HAEMATOPOI... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 L363_HAEMATOPOI... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 L363_HAEMATOPOI... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NEK9 p.V724A 14 75563805 75563805 L363_HAEMATOPOI... 37 Missense_Mutation SNP A G uc001xrl.2 NEK9_uc001xrk.2... Hybrid_Cap... view
NEK9 p.Q283L 14 75580931 75580931 L363_HAEMATOPOI... 37 Missense_Mutation SNP T A uc001xrl.2 NEK9_uc001xrk.2... Hybrid_Cap... view
NFIA 1 61921185 61921186 L363_HAEMATOPOI... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NFKB1 p.D917_splice 4 103534740 103534741 L363_HAEMATOPOI... 37 Splice_Site_Ins Ins - A rs35795162 uc011cep.1 NFKB1_uc011ceq.... Hybrid_Cap...
NPM1 5 170837734 170837734 L363_HAEMATOPOI... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 L363_HAEMATOPOI... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 L363_HAEMATOPOI... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR3C1 5 142780419 142780419 L363_HAEMATOPOI... 37 Splice_Site_SNP SNP T A uc003lmy.2 NR3C1_uc003lmz.... Hybrid_Cap... view
NRAS p.Q61H 1 115256528 115256528 L363_HAEMATOPOI... 37 Missense_Mutation SNP T G uc009wgu.2 Hybrid_Cap... view
NUAK2 p.E467K 1 205273066 205273066 L363_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001hce.2 Hybrid_Cap... view
NUP153 6 17616262 17616262 L363_HAEMATOPOI... 37 3'UTR SNP A C uc011dje.1 NUP153_uc003ncd... Hybrid_Cap... view
NUP153 6 17616272 17616272 L363_HAEMATOPOI... 37 3'UTR SNP A G uc011dje.1 NUP153_uc003ncd... Hybrid_Cap... view
PAX3 2 223158653 223158653 L363_HAEMATOPOI... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 L363_HAEMATOPOI... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3CA p.E545K 3 178936091 178936091 L363_HAEMATOPOI... 37 Missense_Mutation SNP G A rs104886003 uc003fjk.2 Hybrid_Cap... view
PMS1 2 190670539 190670540 L363_HAEMATOPOI... 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 L363_HAEMATOPOI... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RAF1 p.K171T 3 12650334 12650334 L363_HAEMATOPOI... 37 Missense_Mutation SNP T G uc003bxf.3 RAF1_uc011aut.1... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 L363_HAEMATOPOI... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RIF1 p.P403L 2 152293353 152293353 L363_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002txm.2 RIF1_uc002txl.2... Hybrid_Cap... view
ROBO1 p.P1590H 3 78649435 78649435 L363_HAEMATOPOI... 37 Missense_Mutation SNP G T uc003dqe.2 ROBO1_uc003dqb.... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 L363_HAEMATOPOI... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
SMAD7 18 46447623 46447624 L363_HAEMATOPOI... 37 3'UTR Ins - A uc002ldg.2 SMAD7_uc002ldf.... Hybrid_Cap...
STK31 7 23872024 23872025 L363_HAEMATOPOI... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TBCK p.R201K 4 107171631 107171631 L363_HAEMATOPOI... 37 Missense_Mutation SNP C T uc010ilv.2 TBCK_uc003hyb.2... Hybrid_Cap... view
TBCK p.P183S 4 107173073 107173073 L363_HAEMATOPOI... 37 Missense_Mutation SNP G A uc010ilv.2 TBCK_uc003hye.2... Hybrid_Cap... view
TEC 4 48139307 48139310 L363_HAEMATOPOI... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TFDP1 p.E225Q 13 114288903 114288903 L363_HAEMATOPOI... 37 Missense_Mutation SNP G C uc001vtw.2 TFDP1_uc010tkd.... Hybrid_Cap... view
TGS1 8 56737426 56737426 L363_HAEMATOPOI... 37 3'UTR SNP T A uc003xsj.3 TGS1_uc010lyh.2... Hybrid_Cap... view
TP53 p.S261T 17 7577499 7577499 L363_HAEMATOPOI... 37 Missense_Mutation SNP C G uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TRIM33 1 114940215 114940216 L363_HAEMATOPOI... 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRIO p.S1029R 5 14369503 14369503 L363_HAEMATOPOI... 37 Missense_Mutation SNP C A uc003jff.2 TRIO_uc003jfg.2... Hybrid_Cap... view
TRPS1 8 116635872 116635873 L363_HAEMATOPOI... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN p.9928_9928E>EE 2 179544685 179544686 L363_HAEMATOPOI... 37 In_Frame_Ins Ins - TCT uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
UBE3B 12 109927927 109927927 L363_HAEMATOPOI... 37 Intron SNP G C uc001top.2 UBE3B_uc001toq.... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 L363_HAEMATOPOI... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...