Annotation Summary for Cell Line: KARPAS-299  

Cell line primary name: KARPAS-299
Cell line aliases:
Gender: M
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: anaplastic_large_cell_lymphoma
Notes:
Source: DSMZ
Expression arrays: CRAZY_p_NCLE_RNA10_HG-U133_Plus_2_H04_569434
SNP arrays: LIMPS_p_NCLE_DNA2N_GenomeWideSNP_6_E06_246716
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in KARPAS-299

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 KARPAS299_HAEMA... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABCA3 16 2339274 2339274 KARPAS299_HAEMA... 37 Intron SNP G A uc002cpy.1 ABCA3_uc010bsk.... Hybrid_Cap... view
ADAM28 8 24211994 24211997 KARPAS299_HAEMA... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS2 p.R241C 5 178634684 178634684 KARPAS299_HAEMA... 37 Missense_Mutation SNP G A uc003mjw.2 ADAMTS2_uc011dg... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 KARPAS299_HAEMA... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AURKC 19 57742494 57742507 KARPAS299_HAEMA... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCR 22 23632792 23632792 KARPAS299_HAEMA... 37 Intron SNP G A uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap... view
BIK 22 43525487 43525487 KARPAS299_HAEMA... 37 3'UTR SNP T A uc003bdk.2 Hybrid_Cap... view
CABC1 1 227171585 227171585 KARPAS299_HAEMA... 37 Intron Del T - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CABC1 1 227171736 227171737 KARPAS299_HAEMA... 37 Intron Ins - T rs1574184 uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CACNB2 10 18828721 18828722 KARPAS299_HAEMA... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMK2A 5 149602223 149602224 KARPAS299_HAEMA... 37 3'UTR Del AC - uc003lrt.2 CAMK2A_uc003lrs... Hybrid_Cap...
CATSPERB p.M901I 14 92074644 92074644 KARPAS299_HAEMA... 37 Missense_Mutation SNP C A uc001xzs.1 CATSPERB_uc010a... Hybrid_Cap... view
CCDC6 p.446_446P>PPP 10 61552762 61552763 KARPAS299_HAEMA... 37 In_Frame_Ins Ins - GGAGGT rs7899254;rs61740504 uc001jks.3 Hybrid_Cap...
CCND3 6 41903576 41903576 KARPAS299_HAEMA... 37 3'UTR SNP C T uc003orn.2 CCND3_uc003orp.... Hybrid_Cap... view
CHIC2 4 54876132 54876132 KARPAS299_HAEMA... 37 3'UTR Del C - rs4437313 uc003haj.1 PDGFRA_uc003haa... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 KARPAS299_HAEMA... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CTBP2 p.K974fs 10 126678123 126678123 KARPAS299_HAEMA... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CXCL12 10 44873992 44873993 KARPAS299_HAEMA... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DDR1 p.D801E 6 30866018 30866018 KARPAS299_HAEMA... 37 Missense_Mutation SNP C A uc003nrv.2 DDR1_uc010jse.2... Hybrid_Cap... view
DICER1 p.I461V 14 95584087 95584087 KARPAS299_HAEMA... 37 Missense_Mutation SNP T C uc001ydw.2 DICER1_uc001ydv... Hybrid_Cap... view
EDN1 6 12290729 12290729 KARPAS299_HAEMA... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EIF4E 4 99808137 99808141 KARPAS299_HAEMA... 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
EP300 22 41574970 41574972 KARPAS299_HAEMA... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPS15 1 51822220 51822220 KARPAS299_HAEMA... 37 3'UTR Del A - uc001csq.1 EPS15_uc009vyz.... Hybrid_Cap...
ERLIN2 8 37603037 37603037 KARPAS299_HAEMA... 37 Intron SNP C A uc003xke.3 ERLIN2_uc003xkc... Hybrid_Cap... view
FBN1 p.I849V 15 48787452 48787452 KARPAS299_HAEMA... 37 Missense_Mutation SNP T C uc001zwx.1 Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 KARPAS299_HAEMA... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 KARPAS299_HAEMA... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 KARPAS299_HAEMA... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 KARPAS299_HAEMA... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FZD1 p.93_94insP 7 90894459 90894460 KARPAS299_HAEMA... 37 In_Frame_Ins Ins - CCG uc003ula.2 Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 KARPAS299_HAEMA... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 KARPAS299_HAEMA... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 KARPAS299_HAEMA... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 KARPAS299_HAEMA... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 KARPAS299_HAEMA... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
IGF1R 15 99192755 99192763 KARPAS299_HAEMA... 37 5'UTR Del TTTTT... - uc002bul.2 IGF1R_uc010urq.... Hybrid_Cap...
IKBKB 8 42174574 42174574 KARPAS299_HAEMA... 37 Intron SNP G T uc003xow.1 IKBKB_uc003xov.... Hybrid_Cap... view
ILK 11 6630029 6630029 KARPAS299_HAEMA... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGB6 p.P206R 2 161030627 161030627 KARPAS299_HAEMA... 37 Missense_Mutation SNP G C uc002ubh.2 ITGB6_uc010fow.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 KARPAS299_HAEMA... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAG2 p.R686H 14 105614740 105614740 KARPAS299_HAEMA... 37 Missense_Mutation SNP C T uc001yqg.2 JAG2_uc010axf.2... Hybrid_Cap... view
MAF 16 79628537 79628537 KARPAS299_HAEMA... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAF 16 79628325 79628325 KARPAS299_HAEMA... 37 3'UTR Del A - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 KARPAS299_HAEMA... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 KARPAS299_HAEMA... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 KARPAS299_HAEMA... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K5 6 136878752 136878752 KARPAS299_HAEMA... 37 3'UTR Del T - rs79903899 uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 KARPAS299_HAEMA... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MLLT6 17 36872220 36872220 KARPAS299_HAEMA... 37 Intron SNP C T uc002hqi.3 MLLT6_uc010cvm.... Hybrid_Cap... view
MYH1 p.L582F 17 10411831 10411831 KARPAS299_HAEMA... 37 Missense_Mutation SNP C A uc002gmo.2 Hybrid_Cap... view
MYLK p.E1066del 3 123419117 123419119 KARPAS299_HAEMA... 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
NCAM1 11 112832307 112832308 KARPAS299_HAEMA... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 KARPAS299_HAEMA... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 KARPAS299_HAEMA... 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NPRL2 3 50384978 50384978 KARPAS299_HAEMA... 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 KARPAS299_HAEMA... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR3C1 5 142780419 142780419 KARPAS299_HAEMA... 37 Splice_Site_SNP SNP T A uc003lmy.2 NR3C1_uc003lmz.... Hybrid_Cap... view
NUP98 p.E1303G 11 3720413 3720413 KARPAS299_HAEMA... 37 Missense_Mutation SNP T C uc001lyh.2 NUP98_uc001lyi.... Hybrid_Cap... view
PAX3 2 223158653 223158653 KARPAS299_HAEMA... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PLCB2 p.A395V 15 40590132 40590132 KARPAS299_HAEMA... 37 Missense_Mutation SNP G A uc001zld.2 PLCB2_uc010bbo.... Hybrid_Cap... view
PRKCH 14 61788636 61788636 KARPAS299_HAEMA... 37 5'UTR SNP A G uc001xfn.2 PRKCH_uc010tsa.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 KARPAS299_HAEMA... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTCH2 p.H622N 1 45293709 45293709 KARPAS299_HAEMA... 37 Missense_Mutation SNP G T rs11573586 uc010olf.1 PTCH2_uc010olg.... Hybrid_Cap... view
PTPRC p.N966K 1 198717294 198717294 KARPAS299_HAEMA... 37 Missense_Mutation SNP T A uc001gur.1 PTPRC_uc001gus.... Hybrid_Cap... view
RECQL4 p.M996T 8 145737843 145737843 KARPAS299_HAEMA... 37 Missense_Mutation SNP A G uc003zdj.2 Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 KARPAS299_HAEMA... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
SETDB1 1 150936305 150936305 KARPAS299_HAEMA... 37 Intron SNP T C uc001evu.2 SETDB1_uc001evv... Hybrid_Cap... view
STAT5A p.A718T 17 40461432 40461432 KARPAS299_HAEMA... 37 Missense_Mutation SNP G A uc002hzj.1 STAT5A_uc010cya... Hybrid_Cap... view
STAT5A 17 40462797 40462800 KARPAS299_HAEMA... 37 3'UTR Del TGTG - uc002hzj.1 STAT5A_uc010cya... Hybrid_Cap...
STK31 7 23872024 23872025 KARPAS299_HAEMA... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TLK1 2 171850178 171850179 KARPAS299_HAEMA... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TOP1 p.K184E 20 39713144 39713144 KARPAS299_HAEMA... 37 Missense_Mutation SNP A G uc002xjl.2 TOP1_uc010gge.1... Hybrid_Cap... view
TOP2A p.R1435G 17 38546381 38546381 KARPAS299_HAEMA... 37 Missense_Mutation SNP T C uc002huq.2 Hybrid_Cap... view
TP53 p.R273C 17 7577121 7577121 KARPAS299_HAEMA... 37 Missense_Mutation SNP G A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TTBK1 p.E771del 6 43250726 43250728 KARPAS299_HAEMA... 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 KARPAS299_HAEMA... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WRN 8 30945285 30945285 KARPAS299_HAEMA... 37 Intron SNP C T uc003xio.3 WRN_uc011lbe.1_... Hybrid_Cap... view