Annotation Summary for Cell Line: MONO-MAC-6  

Cell line primary name: MONO-MAC-6
Cell line aliases:
Gender: M
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: haematopoietic_neoplasm
Hist Subtype1: acute_myeloid_leukaemia
Notes: MONO-MAC-1 and MONO-MAC-6 were derived from the same patient
Source: DSMZ
Expression arrays: SILOS_p_NCLE_RNA9_HG-U133_Plus_2_A07_523562
SNP arrays: VAULT_p_NCLE_DNAAffy14_GenomeWideSNP_6_H02_698582
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in MONO-MAC-6

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ADAM28 8 24211994 24211997 MONOMAC6_HAEMAT... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 MONOMAC6_HAEMAT... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 MONOMAC6_HAEMAT... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ARHGAP29 p.L878R 1 94643571 94643571 MONOMAC6_HAEMAT... 37 Missense_Mutation SNP A C uc001dqj.3 ARHGAP29_uc009w... Hybrid_Cap... view
ARHGEF12 11 120355895 120355895 MONOMAC6_HAEMAT... 37 3'UTR SNP G A uc001pxl.1 ARHGEF12_uc009z... Hybrid_Cap... view
AURKC 19 57742494 57742507 MONOMAC6_HAEMAT... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BAX 19 49464961 49464961 MONOMAC6_HAEMAT... 37 3'UTR SNP A C uc002plk.2 BAX_uc010xzx.1_... Hybrid_Cap... view
CAMK2A 5 149602223 149602224 MONOMAC6_HAEMAT... 37 3'UTR Del AC - uc003lrt.2 CAMK2A_uc003lrs... Hybrid_Cap...
CDK14 p.N102D 7 90356061 90356061 MONOMAC6_HAEMAT... 37 Missense_Mutation SNP A G uc003uky.2 CDK14_uc003ukt.... Hybrid_Cap... view
CFI p.C266R 4 110681513 110681513 MONOMAC6_HAEMAT... 37 Missense_Mutation SNP A G uc011cft.1 CFI_uc003hzq.2_... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 MONOMAC6_HAEMAT... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 MONOMAC6_HAEMAT... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 MONOMAC6_HAEMAT... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CSF1R 5 149433400 149433401 MONOMAC6_HAEMAT... 37 3'UTR Ins - C rs66970099;rs78449650 uc003lrl.2 CSF1R_uc011dcd.... Hybrid_Cap...
CXCL12 10 44873992 44873993 MONOMAC6_HAEMAT... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DDR2 1 162750211 162750212 MONOMAC6_HAEMAT... 37 3'UTR Del TT - uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap...
EIF4G1 p.GEA479del 3 184039767 184039775 MONOMAC6_HAEMAT... 37 In_Frame_Del Del AGGAG... - uc010hxx.2 EIF4G1_uc003fno... Hybrid_Cap...
EPHA5 4 66189753 66189754 MONOMAC6_HAEMAT... 37 3'UTR Ins - T rs67487372 uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap...
EPHA6 3 97367230 97367231 MONOMAC6_HAEMAT... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHB6 7 142568771 142568771 MONOMAC6_HAEMAT... 37 3'UTR Del C - uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap...
ETV1 7 14028708 14028708 MONOMAC6_HAEMAT... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FANCL 2 58468467 58468468 MONOMAC6_HAEMAT... 37 5'UTR Del AC - uc002rzx.3 FANCL_uc002rzw.... Hybrid_Cap...
FBN2 p.K1759Q 5 127645017 127645017 MONOMAC6_HAEMAT... 37 Missense_Mutation SNP T G uc003kuu.2 Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 MONOMAC6_HAEMAT... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 MONOMAC6_HAEMAT... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 MONOMAC6_HAEMAT... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT3 p.V592A 13 28608281 28608281 MONOMAC6_HAEMAT... 37 Missense_Mutation SNP A G uc001urw.2 FLT3_uc010aao.2... Hybrid_Cap... view
FN1 2 216244182 216244185 MONOMAC6_HAEMAT... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GCK 7 44184604 44184605 MONOMAC6_HAEMAT... 37 3'UTR Ins - G uc003tkk.1 GCK_uc003tkh.1_... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 MONOMAC6_HAEMAT... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 MONOMAC6_HAEMAT... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 MONOMAC6_HAEMAT... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213865 62213865 MONOMAC6_HAEMAT... 37 3'UTR Del T - uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HIF1A 14 62213929 62213930 MONOMAC6_HAEMAT... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 MONOMAC6_HAEMAT... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 MONOMAC6_HAEMAT... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
KLK7 19 51480672 51480675 MONOMAC6_HAEMAT... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LRRC2 3 46593092 46593092 MONOMAC6_HAEMAT... 37 5'UTR SNP T C uc010hji.2 LRRC2_uc003cpu.... Hybrid_Cap... view
MAF 16 79628325 79628325 MONOMAC6_HAEMAT... 37 3'UTR Del A - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 MONOMAC6_HAEMAT... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 MONOMAC6_HAEMAT... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MCM3APAS 21 47671275 47671276 MONOMAC6_HAEMAT... 37 3'UTR Ins - AAT rs67797185 uc002zin.2 MCM3APAS_uc002z... Hybrid_Cap...
MSH3 p.PPA66del 5 79950742 79950750 MONOMAC6_HAEMAT... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MYBL2 p.P284R 20 42328584 42328584 MONOMAC6_HAEMAT... 37 Missense_Mutation SNP C G uc002xlb.1 MYBL2_uc010zwj.... Hybrid_Cap... view
MYST4 p.EE1367del 10 76788645 76788650 MONOMAC6_HAEMAT... 37 In_Frame_Del Del GAGGA... - rs118058729 uc001jwn.1 MYST4_uc001jwo.... Hybrid_Cap...
NCAM1 11 112832307 112832308 MONOMAC6_HAEMAT... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 MONOMAC6_HAEMAT... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.QQQ1272del 20 46279815 46279823 MONOMAC6_HAEMAT... 37 In_Frame_Del Del GCAGC... - uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NLK p.S257* 17 26490587 26490587 MONOMAC6_HAEMAT... 37 Nonsense_Mutation SNP C G uc010crj.2 NLK_uc010cri.1_... Hybrid_Cap... view
NOTCH4 6 32170465 32170465 MONOMAC6_HAEMAT... 37 Intron Del G - uc003obb.2 NOTCH4_uc003oba... Hybrid_Cap...
NPR1 1 153665919 153665920 MONOMAC6_HAEMAT... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 MONOMAC6_HAEMAT... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 MONOMAC6_HAEMAT... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PASK p.V178L 2 242079368 242079368 MONOMAC6_HAEMAT... 37 Missense_Mutation SNP C A uc010fzl.1 PASK_uc010zol.1... Hybrid_Cap... view
PAX3 2 223158653 223158653 MONOMAC6_HAEMAT... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 MONOMAC6_HAEMAT... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 MONOMAC6_HAEMAT... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKG1 p.R422C 10 54031200 54031200 MONOMAC6_HAEMAT... 37 Missense_Mutation SNP C T uc001jjo.2 PRKG1_uc001jjm.... Hybrid_Cap... view
PTK6 20 62168676 62168677 MONOMAC6_HAEMAT... 37 5'UTR Ins - GCGC uc002yfg.2 PTK6_uc011aay.1... Hybrid_Cap...
RARB 3 25470317 25470317 MONOMAC6_HAEMAT... 37 Intron SNP C G uc011awl.1 RARB_uc003cdi.1... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 MONOMAC6_HAEMAT... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RPS6KA5 14 91360733 91360734 MONOMAC6_HAEMAT... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RUNX1 p.A134V 21 36252961 36252961 MONOMAC6_HAEMAT... 37 Missense_Mutation SNP G A uc010gmu.2 RUNX1_uc002yuh.... Hybrid_Cap... view
SEPT9 17 75494787 75494788 MONOMAC6_HAEMAT... 37 3'UTR Ins - C rs5822173 uc002jts.3 SEPT9_uc010wtk.... Hybrid_Cap...
STK32A p.R27* 5 146657713 146657713 MONOMAC6_HAEMAT... 37 Nonsense_Mutation SNP C T uc011dbw.1 STK32A_uc003lol... Hybrid_Cap... view
STRADA 17 61781331 61781332 MONOMAC6_HAEMAT... 37 Intron Ins - AGAACC rs66701913 uc002jbm.2 STRADA_uc002jbn... Hybrid_Cap...
TCEA1 p.S128* 8 54900757 54900757 MONOMAC6_HAEMAT... 37 Nonsense_Mutation SNP G T uc003xru.2 TCEA1_uc003xrv.... Hybrid_Cap... view
TEC 4 48139307 48139310 MONOMAC6_HAEMAT... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TGFB2 1 218519928 218519929 MONOMAC6_HAEMAT... 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TGS1 p.E330G 8 56699446 56699446 MONOMAC6_HAEMAT... 37 Missense_Mutation SNP A G uc003xsj.3 TGS1_uc010lyh.2... Hybrid_Cap... view
TTN p.I28331T 2 179413657 179413657 MONOMAC6_HAEMAT... 37 Missense_Mutation SNP A G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.E26343del 2 179424125 179424127 MONOMAC6_HAEMAT... 37 In_Frame_Del Del CTT - uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.R25730Q 2 179425966 179425966 MONOMAC6_HAEMAT... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 MONOMAC6_HAEMAT... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...