Annotation Summary for Cell Line: L-540  

Cell line primary name: L-540
Cell line aliases:
Gender: F
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: Hodgkin_lymphoma
Notes:
Source: DSMZ
Expression arrays: SILOS_p_NCLE_RNA9_HG-U133_Plus_2_H03_523604
SNP arrays: AWASH_p_NCLE_DNAAffy10_GenomeWideSNP_6_A08_542868
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in L-540

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 L540_HAEMATOPOI... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABL1 p.Q1131L 9 133761012 133761012 L540_HAEMATOPOI... 37 Missense_Mutation SNP A T uc004bzv.2 ABL1_uc004bzw.2... Hybrid_Cap... view
ACACA 17 35766564 35766564 L540_HAEMATOPOI... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM28 8 24211994 24211997 L540_HAEMATOPOI... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM32 p.K308M 8 39044435 39044435 L540_HAEMATOPOI... 37 Missense_Mutation SNP A T uc003xmt.3 ADAM32_uc011lch... Hybrid_Cap... view
ADAMTS20 p.Q1289R 12 43822123 43822123 L540_HAEMATOPOI... 37 Missense_Mutation SNP T C uc010skx.1 ADAMTS20_uc001r... Hybrid_Cap... view
AIFM3 p.Q245H 22 21329995 21329995 L540_HAEMATOPOI... 37 Missense_Mutation SNP G T rs78729788 uc002ztj.2 AIFM3_uc002ztk.... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 L540_HAEMATOPOI... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP4 p.E440D X 49958044 49958044 L540_HAEMATOPOI... 37 Missense_Mutation SNP C A uc004dow.1 AKAP4_uc004dov.... Hybrid_Cap... view
AKAP9 p.1335_1336insQ 7 91652178 91652179 L540_HAEMATOPOI... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ATP13A5 p.V716E 3 193032772 193032772 L540_HAEMATOPOI... 37 Missense_Mutation SNP A T uc011bsq.1 Hybrid_Cap... view
BMX p.V403G X 15554536 15554536 L540_HAEMATOPOI... 37 Missense_Mutation SNP T G uc004cww.2 BMX_uc004cwx.3_... Hybrid_Cap... view
CABC1 1 227171736 227171737 L540_HAEMATOPOI... 37 Intron Ins - T rs1574184 uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CACNA1F p.G1001R X 49074425 49074425 L540_HAEMATOPOI... 37 Missense_Mutation SNP C G uc004dnb.2 CACNA1F_uc010ni... Hybrid_Cap... view
CAMKK2 p.F390L 12 121687829 121687829 L540_HAEMATOPOI... 37 Missense_Mutation SNP G C uc001tzu.2 CAMKK2_uc001tzt... Hybrid_Cap... view
CASP10 p.V512G 2 202082430 202082430 L540_HAEMATOPOI... 37 Missense_Mutation SNP T G uc002uxj.1 CASP10_uc002uxk... Hybrid_Cap... view
CDK18 1 205495890 205495891 L540_HAEMATOPOI... 37 Intron Del CT - uc001hcr.2 CDK18_uc010pri.... Hybrid_Cap...
CDK3 p.Q141L 17 73998351 73998351 L540_HAEMATOPOI... 37 Missense_Mutation SNP A T uc002jqg.3 CDK3_uc010dgt.2... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 L540_HAEMATOPOI... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHD8 p.R1518Q 14 21863071 21863071 L540_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001was.1 CHD8_uc001war.1... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 L540_HAEMATOPOI... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
COL3A1 p.P1043H 2 189871105 189871105 L540_HAEMATOPOI... 37 Missense_Mutation SNP C A uc002uqj.1 Hybrid_Cap... view
COL4A3BP p.G363* 5 74712835 74712835 L540_HAEMATOPOI... 37 Nonsense_Mutation SNP C A uc003kdt.2 COL4A3BP_uc011c... Hybrid_Cap... view
CPAMD8 p.R1383H 19 17017782 17017782 L540_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002nfb.2 Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 L540_HAEMATOPOI... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CREBBP p.T1332I 16 3790538 3790538 L540_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CSPG4 p.W446L 15 75982069 75982069 L540_HAEMATOPOI... 37 Missense_Mutation SNP C A uc002baw.2 Hybrid_Cap... view
CUBN p.K2213M 10 16967248 16967248 L540_HAEMATOPOI... 37 Missense_Mutation SNP T A uc001ioo.2 Hybrid_Cap... view
DLL4 p.S95C 15 41222261 41222261 L540_HAEMATOPOI... 37 Missense_Mutation SNP A T uc001zng.1 Hybrid_Cap... view
DOCK3 p.K281N 3 51196689 51196689 L540_HAEMATOPOI... 37 Missense_Mutation SNP A C uc011bds.1 Hybrid_Cap... view
DST p.E3720* 6 56394326 56394326 L540_HAEMATOPOI... 37 Nonsense_Mutation SNP C A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
ECM1 p.P221A 1 150483540 150483540 L540_HAEMATOPOI... 37 Missense_Mutation SNP C G uc001euu.2 ECM1_uc010pce.1... Hybrid_Cap... view
EIF2AK4 p.A573V 15 40265850 40265850 L540_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001zkm.1 EIF2AK4_uc001zk... Hybrid_Cap... view
EIF4E 4 99808137 99808141 L540_HAEMATOPOI... 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
ERCC5 p.S680F 13 103513861 103513861 L540_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001vpu.1 ERCC5_uc010tjb.... Hybrid_Cap... view
ERN2 p.L739H 16 23706077 23706077 L540_HAEMATOPOI... 37 Missense_Mutation SNP A T uc002dma.3 ERN2_uc010bxp.2... Hybrid_Cap... view
ETV1 7 14028708 14028708 L540_HAEMATOPOI... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
F8 p.N2160T X 154091453 154091453 L540_HAEMATOPOI... 37 Missense_Mutation SNP T G uc004fmt.2 F8_uc004fms.2_M... Hybrid_Cap... view
FER p.I350F 5 108233361 108233361 L540_HAEMATOPOI... 37 Missense_Mutation SNP A T uc003kop.1 FER_uc011cvf.1_... Hybrid_Cap... view
FGF1 p.R137Q 5 141974913 141974913 L540_HAEMATOPOI... 37 Missense_Mutation SNP C T uc003lmm.2 FGF1_uc011dbi.1... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 L540_HAEMATOPOI... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 L540_HAEMATOPOI... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128564129 128564129 L540_HAEMATOPOI... 37 5'UTR SNP G A uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap... view
FLI1 11 128638217 128638217 L540_HAEMATOPOI... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNC p.Y1865N 7 128491339 128491339 L540_HAEMATOPOI... 37 Missense_Mutation SNP T A uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FN1 2 216244182 216244185 L540_HAEMATOPOI... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 L540_HAEMATOPOI... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GPR112 p.T2946I X 135488033 135488033 L540_HAEMATOPOI... 37 Missense_Mutation SNP C T uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap... view
GRIA3 X 122318386 122318387 L540_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY1A2 p.M756I 11 106558299 106558299 L540_HAEMATOPOI... 37 Missense_Mutation SNP C A uc009yxn.1 GUCY1A2_uc001pj... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 L540_HAEMATOPOI... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC6 p.E436D X 48674033 48674033 L540_HAEMATOPOI... 37 Missense_Mutation SNP G T uc011mmi.1 HDAC6_uc004dks.... Hybrid_Cap... view
HGF 7 81331787 81331787 L540_HAEMATOPOI... 37 3'UTR SNP C A uc003uhl.2 HGF_uc003uhm.2_... Hybrid_Cap... view
HGF 7 81372174 81372174 L540_HAEMATOPOI... 37 Intron SNP G T uc003uhl.2 HGF_uc003uhm.2_... Hybrid_Cap... view
HNF1A 12 121434630 121434631 L540_HAEMATOPOI... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90AA1 p.K401del 14 102551161 102551163 L540_HAEMATOPOI... 37 In_Frame_Del Del TCT - rs55793809 uc001ykv.3 HSP90AA1_uc001y... Hybrid_Cap...
HUNK p.K392_splice 21 33355838 33355838 L540_HAEMATOPOI... 37 Splice_Site_SNP SNP G T uc002yph.2 Hybrid_Cap... view
IL17RD p.S208C 3 57140010 57140010 L540_HAEMATOPOI... 37 Missense_Mutation SNP T A uc003dil.2 IL17RD_uc003dik... Hybrid_Cap... view
IL1RAP p.K343E 3 190347263 190347263 L540_HAEMATOPOI... 37 Missense_Mutation SNP A G uc003fsq.2 IL1RAP_uc003fsk... Hybrid_Cap... view
IL6ST p.G878G 5 55237033 55237033 L540_HAEMATOPOI... 37 Silent SNP A T uc003jqq.2 IL6ST_uc010iwb.... Hybrid_Cap... view
IL6ST p.F550F 5 55247806 55247806 L540_HAEMATOPOI... 37 Silent SNP A G uc003jqq.2 IL6ST_uc010iwb.... Hybrid_Cap... view
ILK 11 6630029 6630029 L540_HAEMATOPOI... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
KALRN 3 124393472 124393472 L540_HAEMATOPOI... 37 Intron SNP C G uc003ehg.2 KALRN_uc003ehi.... Hybrid_Cap... view
LNX2 p.E228D 13 28141948 28141948 L540_HAEMATOPOI... 37 Missense_Mutation SNP T A uc001url.3 LNX2_uc001urm.1... Hybrid_Cap... view
LRGUK p.K427N 7 133868552 133868552 L540_HAEMATOPOI... 37 Missense_Mutation SNP A T uc003vrm.1 Hybrid_Cap... view
LRP1 p.V2788I 12 57589107 57589107 L540_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001snd.2 Hybrid_Cap... view
LRP1B p.R3727* 2 141116468 141116468 L540_HAEMATOPOI... 37 Nonsense_Mutation SNP T A uc002tvj.1 Hybrid_Cap... view
LRP6 p.C1338Y 12 12283785 12283785 L540_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001rah.3 BCL2L14_uc001ra... Hybrid_Cap... view
MAMDC4 p.P298P 9 139749088 139749088 L540_HAEMATOPOI... 37 Silent SNP C A uc004cjs.2 MAMDC4_uc011mej... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 L540_HAEMATOPOI... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 L540_HAEMATOPOI... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K1 p.L1189V 5 56178592 56178592 L540_HAEMATOPOI... 37 Missense_Mutation SNP T G uc003jqw.3 Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 L540_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKBP1 15 42111753 42111754 L540_HAEMATOPOI... 37 Intron Ins - C rs3034891 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MLKL p.D369fs 16 74709591 74709594 L540_HAEMATOPOI... 37 Frame_Shift_Del Del TCTG - uc002fdb.2 MLKL_uc002fdc.2... Hybrid_Cap...
MLL3 p.R1058T 7 151921250 151921250 L540_HAEMATOPOI... 37 Missense_Mutation SNP C G uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MLLT6 p.S281F 17 36871887 36871887 L540_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002hqi.3 MLLT6_uc010cvm.... Hybrid_Cap... view
MSH3 p.PPA66del 5 79950742 79950750 L540_HAEMATOPOI... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MSH6 p.P1082L 2 48030631 48030631 L540_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002rwd.3 MSH6_uc010fbj.2... Hybrid_Cap... view
MTOR 1 11167415 11167415 L540_HAEMATOPOI... 37 3'UTR SNP C T uc001asd.2 MTOR_uc001asc.2... Hybrid_Cap... view
MTOR p.H2340R 1 11175523 11175523 L540_HAEMATOPOI... 37 Missense_Mutation SNP T C uc001asd.2 MTOR_uc001asc.2... Hybrid_Cap... view
MUSK p.C699S 9 113562754 113562754 L540_HAEMATOPOI... 37 Missense_Mutation SNP G C uc004bey.2 MUSK_uc004bez.1... Hybrid_Cap... view
NCAM1 11 112832307 112832308 L540_HAEMATOPOI... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 L540_HAEMATOPOI... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEDD9 p.K543R 6 11190474 11190474 L540_HAEMATOPOI... 37 Missense_Mutation SNP T C uc003mzv.2 NEDD9_uc010joz.... Hybrid_Cap... view
NEK8 17 27069066 27069066 L540_HAEMATOPOI... 37 3'UTR SNP G T uc002hcp.2 TRAF4_uc002hcq.... Hybrid_Cap... view
NGFR 17 47590379 47590379 L540_HAEMATOPOI... 37 3'UTR SNP C A uc002ioz.3 Hybrid_Cap... view
NLRP1 p.I121F 17 5486077 5486077 L540_HAEMATOPOI... 37 Missense_Mutation SNP T A uc002gci.2 NLRP1_uc002gcg.... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881822 50881823 L540_HAEMATOPOI... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAK7 p.A434G 20 9546721 9546721 L540_HAEMATOPOI... 37 Missense_Mutation SNP G C uc002wnl.2 PAK7_uc002wnk.2... Hybrid_Cap... view
PAX3 2 223158653 223158653 L540_HAEMATOPOI... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX5 9 37034095 37034095 L540_HAEMATOPOI... 37 5'UTR Del C - uc003zzo.1 PAX5_uc011lpw.1... Hybrid_Cap...
PCDH15 p.A289S 10 56077057 56077057 L540_HAEMATOPOI... 37 Missense_Mutation SNP C A uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap... view
PER1 p.A1108S 17 8045714 8045714 L540_HAEMATOPOI... 37 Missense_Mutation SNP C A rs112743620 uc002gkd.2 PER1_uc010cns.2... Hybrid_Cap... view
PHF3 p.Q861* 6 64404555 64404555 L540_HAEMATOPOI... 37 Nonsense_Mutation SNP C T uc003pep.1 PHF3_uc010kaf.1... Hybrid_Cap... view
PI4KA p.V1969L 22 21064991 21064991 L540_HAEMATOPOI... 37 Missense_Mutation SNP C A uc002zsz.3 PI4KA_uc010gsp.... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 L540_HAEMATOPOI... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PRKD1 p.E870Q 14 30046575 30046575 L540_HAEMATOPOI... 37 Missense_Mutation SNP C G uc001wqh.2 Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 L540_HAEMATOPOI... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKG1 p.G624R 10 54048728 54048728 L540_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001jjo.2 PRKG1_uc001jjm.... Hybrid_Cap... view
RAGE p.H118H 14 102718262 102718262 L540_HAEMATOPOI... 37 Silent SNP A G uc001ylm.2 RAGE_uc010txv.1... Hybrid_Cap... view
RAPGEF2 p.V1430M 4 160277124 160277124 L540_HAEMATOPOI... 37 Missense_Mutation SNP G A uc003iqg.3 Hybrid_Cap... view
RASA3 p.S447R 13 114780749 114780749 L540_HAEMATOPOI... 37 Missense_Mutation SNP G T uc001vui.2 RASA3_uc010tkk.... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 L540_HAEMATOPOI... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RGL1 p.G450R 1 183869296 183869296 L540_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001gqm.2 RGL1_uc010pof.1... Hybrid_Cap... view
RIF1 p.N356D 2 152289731 152289731 L540_HAEMATOPOI... 37 Missense_Mutation SNP A G uc002txm.2 RIF1_uc002txl.2... Hybrid_Cap... view
ROBO1 p.R847* 3 78706323 78706323 L540_HAEMATOPOI... 37 Nonsense_Mutation SNP G A uc003dqe.2 ROBO1_uc003dqb.... Hybrid_Cap... view
SBK1 p.K90M 16 28330358 28330358 L540_HAEMATOPOI... 37 Missense_Mutation SNP A T uc002dpd.2 Hybrid_Cap... view
SERPINB4 p.A312V 18 61305191 61305191 L540_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002ljf.2 SERPINB4_uc002l... Hybrid_Cap... view
SGK2 20 42213759 42213759 L540_HAEMATOPOI... 37 3'UTR SNP A T uc002xkv.2 SGK2_uc002xkt.2... Hybrid_Cap... view
SNAPC5 15 66782977 66782977 L540_HAEMATOPOI... 37 3'UTR SNP G A uc002apu.1 MAP2K1_uc010bhq... Hybrid_Cap... view
SOST p.E39Q 17 41835995 41835995 L540_HAEMATOPOI... 37 Missense_Mutation SNP C G uc002iec.1 Hybrid_Cap... view
SPEG 2 220329379 220329379 L540_HAEMATOPOI... 37 Intron SNP C T uc010fwg.2 SPEG_uc002vlm.2... Hybrid_Cap... view
SPEG p.M1311R 2 220337045 220337045 L540_HAEMATOPOI... 37 Missense_Mutation SNP T G uc010fwg.2 Hybrid_Cap... view
SPEN p.H3163Y 1 16262222 16262222 L540_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001axk.1 SPEN_uc010obp.1... Hybrid_Cap... view
STK25 2 242435757 242435757 L540_HAEMATOPOI... 37 Intron SNP C T uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap... view
TCF21 6 134210497 134210498 L540_HAEMATOPOI... 37 5'UTR Ins - TCTC rs35199378 uc003qei.3 TCF21_uc003qej.... Hybrid_Cap...
TEK p.K646R 9 27202845 27202845 L540_HAEMATOPOI... 37 Missense_Mutation SNP A G uc003zqi.3 TEK_uc011lno.1_... Hybrid_Cap... view
TG p.P1301L 8 133920485 133920485 L540_HAEMATOPOI... 37 Missense_Mutation SNP C T uc003ytw.2 TG_uc010mdw.2_M... Hybrid_Cap... view
TLK1 2 171850178 171850179 L540_HAEMATOPOI... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TNK1 p.L198P 17 7287299 7287299 L540_HAEMATOPOI... 37 Missense_Mutation SNP T C uc002ggi.3 TNK1_uc002ggj.3... Hybrid_Cap... view
TNNI3K 1 74701154 74701154 L540_HAEMATOPOI... 37 Intron SNP A T uc001dge.1 TNNI3K_uc001dgc... Hybrid_Cap... view
TNRC6B p.Q1328del 22 40697177 40697179 L540_HAEMATOPOI... 37 In_Frame_Del Del GCA - rs114291931 uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap...
TP63 3 189507518 189507519 L540_HAEMATOPOI... 37 Intron Ins - AG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIB2 2 12858315 12858315 L540_HAEMATOPOI... 37 5'UTR SNP C T uc002rbv.3 TRIB2_uc010yjp.... Hybrid_Cap... view
TRIM37 p.S598* 17 57109412 57109412 L540_HAEMATOPOI... 37 Nonsense_Mutation SNP G C uc002iwy.3 TRIM37_uc002iwz... Hybrid_Cap... view
TRPS1 8 116635872 116635873 L540_HAEMATOPOI... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN 2 179391639 179391640 L540_HAEMATOPOI... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
UNC13C p.R1174I 15 54556438 54556438 L540_HAEMATOPOI... 37 Missense_Mutation SNP G T uc002ack.2 UNC13C_uc002acl... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 L540_HAEMATOPOI... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VRK2 p.E234K 2 58358966 58358966 L540_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002rzo.2 VRK2_uc010fcb.2... Hybrid_Cap... view
WNK1 p.L2182F 12 1009739 1009739 L540_HAEMATOPOI... 37 Missense_Mutation SNP A T uc001qio.3 WNK1_uc001qip.3... Hybrid_Cap... view
WNK1 p.D1213Y 12 992708 992708 L540_HAEMATOPOI... 37 Missense_Mutation SNP G T uc001qio.3 WNK1_uc001qip.3... Hybrid_Cap... view
ZAP70 2 98351655 98351655 L540_HAEMATOPOI... 37 Intron Del G - uc002syd.1 ZAP70_uc010yvf.... Hybrid_Cap...