Annotation Summary for Cell Line: L-428  

Cell line primary name: L-428
Cell line aliases:
Gender: F
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: Hodgkin_lymphoma
Notes:
Source: DSMZ
Expression arrays: WATCH_p_NCLE_RNA8_HG-U133_Plus_2_E07_474598
SNP arrays: CHARY_p_NCLE_DNAAffy9_GenomeWideSNP_6_E10_490496
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in L-428

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 L428_HAEMATOPOI... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACACA 17 35766564 35766564 L428_HAEMATOPOI... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM28 8 24211994 24211997 L428_HAEMATOPOI... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTSL3 p.SEAN1021del 15 84651441 84651452 L428_HAEMATOPOI... 37 In_Frame_Del Del AGCGA... - uc002bjz.3 ADAMTSL3_uc010b... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 L428_HAEMATOPOI... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK2 p.1388_1389FF>F 18 56203253 56203255 L428_HAEMATOPOI... 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ARHGEF10 p.Y978N 8 1877462 1877462 L428_HAEMATOPOI... 37 Missense_Mutation SNP T A uc003wpr.2 ARHGEF10_uc003w... Hybrid_Cap... view
AXIN1 p.A721V 16 343512 343512 L428_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002cgp.1 AXIN1_uc002cgq.... Hybrid_Cap... view
BCL2L1 p.N136K 20 30309614 30309614 L428_HAEMATOPOI... 37 Missense_Mutation SNP G C uc002wwl.2 BCL2L1_uc002wwk... Hybrid_Cap... view
BCL6 p.R122W 3 187449516 187449516 L428_HAEMATOPOI... 37 Missense_Mutation SNP G A uc003frp.3 BCL6_uc011bsf.1... Hybrid_Cap... view
BIRC5 17 76219784 76219785 L428_HAEMATOPOI... 37 3'UTR Ins - AA uc002jvf.2 BIRC5_uc002jvg.... Hybrid_Cap...
BMI1 p.D282G 10 22616978 22616978 L428_HAEMATOPOI... 37 Missense_Mutation SNP A G uc009xkg.2 BMI1_uc001irh.2... Hybrid_Cap... view
BMP4 14 54416601 54416602 L428_HAEMATOPOI... 37 3'UTR Ins - AT rs74495140;rs76335800 uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap...
CDK11B p.K127_splice 1 1647893 1647894 L428_HAEMATOPOI... 37 Splice_Site_Ins Ins - TTTCTT rs114930018 uc001agv.1 CDK11B_uc001ags... Hybrid_Cap...
CDK8 p.G24G 13 26828850 26828850 L428_HAEMATOPOI... 37 Silent SNP C T uc001uqr.1 CDK8_uc001uqs.1... Hybrid_Cap... view
CHD8 14 21853629 21853630 L428_HAEMATOPOI... 37 3'UTR Ins - T rs75170206;rs78520772 uc001was.1 CHD8_uc001war.1... Hybrid_Cap...
CHD8 p.Q1421* 14 21864005 21864005 L428_HAEMATOPOI... 37 Nonsense_Mutation SNP G A uc001was.1 CHD8_uc001war.1... Hybrid_Cap... view
CIITA p.S11P 16 10971218 10971218 L428_HAEMATOPOI... 37 Missense_Mutation SNP T C uc002daj.3 CIITA_uc002dai.... Hybrid_Cap... view
CIT p.R817K 12 120196476 120196476 L428_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 L428_HAEMATOPOI... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
COL14A1 p.G293_splice 8 121211807 121211807 L428_HAEMATOPOI... 37 Splice_Site_SNP SNP T C uc003yox.2 COL14A1_uc003yo... Hybrid_Cap... view
CSMD3 p.I2701M 8 113317113 113317113 L428_HAEMATOPOI... 37 Missense_Mutation SNP G C uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CTDSPL p.S261N 3 38022309 38022309 L428_HAEMATOPOI... 37 Missense_Mutation SNP G A uc003chg.2 CTDSPL_uc003chh... Hybrid_Cap... view
DYRK1A 21 38884966 38884967 L428_HAEMATOPOI... 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EDN1 p.K91T 6 12294212 12294212 L428_HAEMATOPOI... 37 Missense_Mutation SNP A C uc003nae.3 EDN1_uc003nad.2... Hybrid_Cap... view
EP300 22 41574970 41574972 L428_HAEMATOPOI... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA4 p.Y246F 2 222428537 222428537 L428_HAEMATOPOI... 37 Missense_Mutation SNP T A uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap... view
EPHB4 7 100424708 100424708 L428_HAEMATOPOI... 37 5'UTR SNP C G uc003uwn.1 EPHB4_uc003uwm.... Hybrid_Cap... view
EPHB6 7 142568771 142568771 L428_HAEMATOPOI... 37 3'UTR Del C - uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap...
ETV1 7 14028894 14028894 L428_HAEMATOPOI... 37 5'UTR SNP T C uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap... view
ETV6 12 11803004 11803004 L428_HAEMATOPOI... 37 5'UTR SNP G T uc001qzz.2 Hybrid_Cap... view
EXT1 8 118811807 118811807 L428_HAEMATOPOI... 37 3'UTR Del T - uc003yok.1 Hybrid_Cap...
FGFR1OP 6 167453519 167453520 L428_HAEMATOPOI... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 L428_HAEMATOPOI... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 L428_HAEMATOPOI... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 p.H2382Q 2 216229707 216229707 L428_HAEMATOPOI... 37 Missense_Mutation SNP A T uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap... view
FN1 2 216244182 216244185 L428_HAEMATOPOI... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GLG1 p.V387A 16 74526929 74526929 L428_HAEMATOPOI... 37 Missense_Mutation SNP A G uc002fcx.2 GLG1_uc002fcy.3... Hybrid_Cap... view
GLTSCR1 19 48182546 48182546 L428_HAEMATOPOI... 37 Intron SNP G A uc002phh.3 GLTSCR1_uc002ph... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 L428_HAEMATOPOI... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 L428_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIN2B p.I898V 12 13717480 13717480 L428_HAEMATOPOI... 37 Missense_Mutation SNP T C uc001rbt.2 Hybrid_Cap... view
GRK1 p.G213S 13 114322338 114322338 L428_HAEMATOPOI... 37 Missense_Mutation SNP G A uc010tkf.1 Hybrid_Cap... view
GUCY2C 12 14827464 14827466 L428_HAEMATOPOI... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213838 62213838 L428_HAEMATOPOI... 37 3'UTR SNP T C uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap... view
HOXC11 12 54369264 54369264 L428_HAEMATOPOI... 37 3'UTR SNP A G uc001sem.2 Hybrid_Cap... view
IL21R p.A7V 16 27441412 27441412 L428_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002doq.1 IL21R_uc002dor.... Hybrid_Cap... view
ILK 11 6630029 6630029 L428_HAEMATOPOI... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
IRF4 p.C99R 6 394899 394899 L428_HAEMATOPOI... 37 Missense_Mutation SNP T C uc003msz.3 IRF4_uc010jne.1... Hybrid_Cap... view
IRF4 p.S104T 6 394915 394915 L428_HAEMATOPOI... 37 Missense_Mutation SNP G C uc003msz.3 IRF4_uc010jne.1... Hybrid_Cap... view
ITGAV p.K873N 2 187534454 187534454 L428_HAEMATOPOI... 37 Missense_Mutation SNP G C uc002upq.2 ITGAV_uc010frs.... Hybrid_Cap... view
ITPR1 p.E1622Q 3 4752057 4752057 L428_HAEMATOPOI... 37 Missense_Mutation SNP G C uc003bqa.2 ITPR1_uc010hca.... Hybrid_Cap... view
KIAA1409 p.D461H 14 94038396 94038396 L428_HAEMATOPOI... 37 Missense_Mutation SNP G C uc001ybv.1 KIAA1409_uc001y... Hybrid_Cap... view
KIAA2022 p.K631N X 73962499 73962499 L428_HAEMATOPOI... 37 Missense_Mutation SNP T G uc004eby.2 Hybrid_Cap... view
KLK7 19 51480672 51480675 L428_HAEMATOPOI... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LRGUK 7 133948752 133948752 L428_HAEMATOPOI... 37 3'UTR SNP A G uc003vrm.1 Hybrid_Cap... view
LRRC7 p.E1452Q 1 70555425 70555425 L428_HAEMATOPOI... 37 Missense_Mutation SNP G C uc001dep.2 LRRC7_uc009wbg.... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 L428_HAEMATOPOI... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 L428_HAEMATOPOI... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 L428_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K9 p.N858Y 14 71199556 71199556 L428_HAEMATOPOI... 37 Missense_Mutation SNP T A uc001xml.2 MAP3K9_uc010ttk... Hybrid_Cap... view
MKNK2 p.C136F 19 2043514 2043514 L428_HAEMATOPOI... 37 Missense_Mutation SNP C A uc002lus.2 MKNK2_uc002luq.... Hybrid_Cap... view
MLLT11 1 151040131 151040131 L428_HAEMATOPOI... 37 3'UTR SNP T C uc001ewq.2 GABPB2_uc010pcp... Hybrid_Cap... view
MLLT3 9 20346377 20346378 L428_HAEMATOPOI... 37 3'UTR Ins - A rs66943046 uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap...
MSN p.K263E X 64953134 64953134 L428_HAEMATOPOI... 37 Missense_Mutation SNP A G uc004dwf.2 Hybrid_Cap... view
MYB p.H352fs 6 135516992 135516993 L428_HAEMATOPOI... 37 Frame_Shift_Ins Ins - C uc003qfh.2 MYB_uc003qfc.2_... Hybrid_Cap...
MYD88 p.D296N 3 38182709 38182709 L428_HAEMATOPOI... 37 Missense_Mutation SNP G A uc003chx.2 MYD88_uc011ayi.... Hybrid_Cap... view
MYST4 p.S423C 10 76735363 76735363 L428_HAEMATOPOI... 37 Missense_Mutation SNP C G uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 L428_HAEMATOPOI... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 L428_HAEMATOPOI... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.QQQ1272del 20 46279815 46279823 L428_HAEMATOPOI... 37 In_Frame_Del Del GCAGC... - uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK5 p.I129R 13 52684640 52684640 L428_HAEMATOPOI... 37 Missense_Mutation SNP A C uc001vge.2 NEK5_uc001vgf.2... Hybrid_Cap... view
NFKBIA p.Q267* 14 35871707 35871707 L428_HAEMATOPOI... 37 Nonsense_Mutation SNP G A uc001wtf.3 NFKBIA_uc001wte... Hybrid_Cap... view
NOTCH4 6 32170465 32170465 L428_HAEMATOPOI... 37 Intron Del G - uc003obb.2 NOTCH4_uc003oba... Hybrid_Cap...
NPAT p.T840I 11 108043192 108043192 L428_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001pjz.3 NPAT_uc010rvv.1... Hybrid_Cap... view
NPR2 p.A832V 9 35806511 35806511 L428_HAEMATOPOI... 37 Missense_Mutation SNP C T uc003zyd.2 NPR2_uc010mlb.2... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 L428_HAEMATOPOI... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NRBP1 p.R474Q 2 27664171 27664171 L428_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002rko.2 NRBP1_uc002rkq.... Hybrid_Cap... view
NRK X 105199712 105199712 L428_HAEMATOPOI... 37 3'UTR SNP T A uc004emd.2 NRK_uc011msi.1_... Hybrid_Cap... view
NUP214 p.G1241_splice 9 134070682 134070682 L428_HAEMATOPOI... 37 Splice_Site_SNP SNP G T uc004cag.2 NUP214_uc004cah... Hybrid_Cap... view
OBSCN p.G2714S 1 228468440 228468440 L428_HAEMATOPOI... 37 Missense_Mutation SNP G A uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
ODZ1 p.G2138E X 123518367 123518368 L428_HAEMATOPOI... 37 Missense_Mutation DNP GC TT uc010nqy.2 ODZ1_uc011muj.1... Hybrid_Cap...
PAX3 2 223066017 223066018 L428_HAEMATOPOI... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 L428_HAEMATOPOI... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 p.V151_splice 2 223160246 223160246 L428_HAEMATOPOI... 37 Splice_Site_SNP SNP C A uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap... view
PIM3 22 50356834 50356834 L428_HAEMATOPOI... 37 3'UTR SNP C T uc003bjb.2 PIM3_uc011arj.1... Hybrid_Cap... view
PKHD1 p.P2757S 6 51695692 51695692 L428_HAEMATOPOI... 37 Missense_Mutation SNP G A uc003pah.1 PKHD1_uc010jzn.... Hybrid_Cap... view
PKMYT1 p.A373V 16 3024280 3024280 L428_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002csn.2 PKMYT1_uc010uwn... Hybrid_Cap... view
PMS1 2 190670539 190670540 L428_HAEMATOPOI... 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRDM16 p.R26W 1 3102727 3102727 L428_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001akf.2 PRDM16_uc001akc... Hybrid_Cap... view
PRKCA 17 64298959 64298960 L428_HAEMATOPOI... 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKCE p.K648* 2 46386766 46386766 L428_HAEMATOPOI... 37 Nonsense_Mutation SNP A T uc002rut.2 Hybrid_Cap... view
PRKDC p.L2402F 8 48761791 48761791 L428_HAEMATOPOI... 37 Missense_Mutation SNP G A uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 L428_HAEMATOPOI... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTCH2 p.E79D 1 45307547 45307547 L428_HAEMATOPOI... 37 Missense_Mutation SNP C G uc010olf.1 PTCH2_uc010olg.... Hybrid_Cap... view
PTPN1 p.M282L 20 49195846 49195846 L428_HAEMATOPOI... 37 Missense_Mutation SNP A C uc002xvl.2 PTPN1_uc010zys.... Hybrid_Cap... view
RAPGEF2 4 160189224 160189224 L428_HAEMATOPOI... 37 5'UTR SNP A T uc003iqg.3 Hybrid_Cap... view
RPS6KL1 14 75373626 75373627 L428_HAEMATOPOI... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SLC14A1 p.T395N 18 43329762 43329762 L428_HAEMATOPOI... 37 Missense_Mutation SNP C A uc010dnk.2 SLC14A1_uc010xc... Hybrid_Cap... view
SLC6A8 X 152957656 152957657 L428_HAEMATOPOI... 37 Intron Ins - A uc004fib.3 SLC6A8_uc004fic... Hybrid_Cap...
SMG1 p.R803C 16 18882017 18882017 L428_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002dfm.2 SMG1_uc010bwb.2... Hybrid_Cap... view
SORL1 p.K1849E 11 121485705 121485705 L428_HAEMATOPOI... 37 Missense_Mutation SNP A G uc001pxx.2 SORL1_uc010rzp.... Hybrid_Cap... view
STK31 7 23872024 23872025 L428_HAEMATOPOI... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TET1 p.G1199E 10 70406082 70406082 L428_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001jok.3 Hybrid_Cap... view
TLK1 2 171850178 171850179 L428_HAEMATOPOI... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TNFRSF11B p.G187R 8 119941010 119941010 L428_HAEMATOPOI... 37 Missense_Mutation SNP C T uc003yon.3 TNFRSF11B_uc010... Hybrid_Cap... view
TRPS1 8 116635872 116635873 L428_HAEMATOPOI... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN p.W25705L 2 179426041 179426041 L428_HAEMATOPOI... 37 Missense_Mutation SNP C A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.K13843N 2 179478891 179478891 L428_HAEMATOPOI... 37 Missense_Mutation SNP C G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN 2 179611312 179611312 L428_HAEMATOPOI... 37 Intron SNP A C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 L428_HAEMATOPOI... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WNK1 p.P1047A 12 990885 990885 L428_HAEMATOPOI... 37 Missense_Mutation SNP C G uc001qio.3 WNK1_uc001qip.3... Hybrid_Cap... view
WRN p.F120V 8 30922433 30922433 L428_HAEMATOPOI... 37 Missense_Mutation SNP T G uc003xio.3 Hybrid_Cap... view
ZAK p.D356N 2 174097050 174097050 L428_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002uhz.2 Hybrid_Cap... view