Annotation Summary for Cell Line: KM-H2  

Cell line primary name: KM-H2
Cell line aliases:
Gender: M
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_F04_474748
SNP arrays: MISTS_p_NCLE_DNAAffy11_GenomeWideSNP_6_D01_578372
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in KM-H2

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 KMH2_HAEMATOPOI... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM28 8 24211994 24211997 KMH2_HAEMATOPOI... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 KMH2_HAEMATOPOI... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 KMH2_HAEMATOPOI... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347609 113347610 KMH2_HAEMATOPOI... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 KMH2_HAEMATOPOI... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ALPK3 15 85407649 85407649 KMH2_HAEMATOPOI... 37 Intron SNP A T uc002ble.2 ALPK3_uc010upc.... Hybrid_Cap... view
ASTN1 1 176833262 176833262 KMH2_HAEMATOPOI... 37 3'UTR SNP A C uc001glc.2 ASTN1_uc001glb.... Hybrid_Cap... view
AURKC 19 57742531 57742532 KMH2_HAEMATOPOI... 37 5'UTR Ins - C uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BLM p.D628_splice 15 91306195 91306195 KMH2_HAEMATOPOI... 37 Splice_Site_SNP SNP G A uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap... view
BMP4 14 54416602 54416602 KMH2_HAEMATOPOI... 37 3'UTR Del T - rs76335800 uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap...
BUB1B p.S691L 15 40500900 40500900 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001zkx.3 Hybrid_Cap... view
CACNB2 10 18828721 18828722 KMH2_HAEMATOPOI... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CARD11 p.D882V 7 2956982 2956982 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP T A uc003smv.2 Hybrid_Cap... view
CARD11 p.SD297del 7 2978436 2978441 KMH2_HAEMATOPOI... 37 In_Frame_Del Del GTCTG... - uc003smv.2 Hybrid_Cap...
CARD9 p.R29L 9 139266445 139266445 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP C A uc004chg.3 CARD9_uc011mdw.... Hybrid_Cap... view
CDC42 1 22416583 22416583 KMH2_HAEMATOPOI... 37 Intron SNP C T uc010odr.1 CDC42_uc001bfp.... Hybrid_Cap... view
CDK11B 1 1654066 1654068 KMH2_HAEMATOPOI... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK13 p.R700fs 7 40039017 40039017 KMH2_HAEMATOPOI... 37 Frame_Shift_Del Del C - uc003thh.3 CDK13_uc003thi.... Hybrid_Cap...
CDK14 p.I345L 7 90613548 90613548 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP A C uc003uky.2 CDK14_uc003ukz.... Hybrid_Cap... view
CDK3 p.M31I 17 73997515 73997515 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002jqg.3 CDK3_uc010dgt.2... Hybrid_Cap... view
CHIC2 4 54876132 54876132 KMH2_HAEMATOPOI... 37 3'UTR Del C - rs4437313 uc003haj.1 PDGFRA_uc003haa... Hybrid_Cap...
CHRNA5 p.F374fs 15 78882853 78882853 KMH2_HAEMATOPOI... 37 Frame_Shift_Del Del T - uc002bdy.2 CHRNA5_uc002bdz... Hybrid_Cap...
CHRNA5 15 78885615 78885616 KMH2_HAEMATOPOI... 37 3'UTR Ins - TA rs72534078 uc002bdy.2 CHRNA3_uc002bea... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 KMH2_HAEMATOPOI... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 22 19196673 19196674 KMH2_HAEMATOPOI... 37 Intron Ins - A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 p.G443E 22 19220985 19220985 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap... view
CNTN1 p.A20V 12 41302293 41302293 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001rmm.1 CNTN1_uc009zjy.... Hybrid_Cap... view
CNTN1 p.E335K 12 41330600 41330600 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001rmm.1 CNTN1_uc009zjy.... Hybrid_Cap... view
COL14A1 p.T600A 8 121237387 121237387 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP A G uc003yox.2 COL14A1_uc003yo... Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 KMH2_HAEMATOPOI... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CSMD3 p.L3554F 8 113246672 113246672 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP T A uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CTSS p.Q100K 1 150727578 150727578 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP G T uc001evn.2 CTSS_uc010pcj.1... Hybrid_Cap... view
CXCR2 p.C196Y 2 219000111 219000111 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002vgz.1 CXCR2_uc002vha.... Hybrid_Cap... view
DNAH8 p.A3926V 6 38919273 38919273 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP C T uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap... view
DRD2 p.N17K 11 113295323 113295323 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP G T uc001pnz.2 DRD2_uc010rwv.1... Hybrid_Cap... view
DYRK1A 21 38884966 38884967 KMH2_HAEMATOPOI... 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EDNRB p.N142K 13 78492532 78492532 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP G T uc001vkp.1 EDNRB_uc001vkq.... Hybrid_Cap... view
EGFR 7 55224558 55224558 KMH2_HAEMATOPOI... 37 Intron SNP G T uc003tqk.2 EGFR_uc003tqh.2... Hybrid_Cap... view
EGFR p.W1157C 7 55273148 55273148 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP G C uc003tqk.2 EGFR_uc011kco.1... Hybrid_Cap... view
EIF5A p.Y128C 17 7214691 7214691 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP A G uc002gfr.2 EIF5A_uc010vtv.... Hybrid_Cap... view
EPHA7 p.V219A 6 94120395 94120395 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP A G uc003poe.2 EPHA7_uc003pof.... Hybrid_Cap... view
ERCC4 p.S540L 16 14029408 14029408 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002dce.2 ERCC4_uc010uyz.... Hybrid_Cap... view
ETV1 7 14028708 14028708 KMH2_HAEMATOPOI... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FANCF p.T56fs 11 22647190 22647190 KMH2_HAEMATOPOI... 37 Frame_Shift_Del Del G - uc001mql.1 Hybrid_Cap...
FGFR1OP 6 167453519 167453520 KMH2_HAEMATOPOI... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 KMH2_HAEMATOPOI... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 KMH2_HAEMATOPOI... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 KMH2_HAEMATOPOI... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXP1 p.L158P 3 71101725 71101725 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP A G uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap... view
GAK p.A1255T 4 843751 843751 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP C T uc003gbm.3 GAK_uc003gbn.3_... Hybrid_Cap... view
GHR p.L129Q 5 42695138 42695138 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP T A uc003jmt.2 GHR_uc011cpq.1_... Hybrid_Cap... view
GPR112 p.P1517S X 135430414 135430414 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP C T uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 KMH2_HAEMATOPOI... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRB2 p.G81fs 17 73322036 73322037 KMH2_HAEMATOPOI... 37 Frame_Shift_Ins Ins - CATCGTG uc002jnx.3 GRB2_uc002jny.3... Hybrid_Cap...
GRIA3 X 122318386 122318387 KMH2_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRK4 4 2965776 2965777 KMH2_HAEMATOPOI... 37 5'UTR Ins - CGG uc003ggn.1 GRK4_uc003ggo.1... Hybrid_Cap...
GUCY2C 12 14827464 14827466 KMH2_HAEMATOPOI... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 KMH2_HAEMATOPOI... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HIPK2 p.Y468N 7 139313731 139313731 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP A T uc003vvf.3 HIPK2_uc003vvd.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 KMH2_HAEMATOPOI... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HNRNPH1 p.G121R 5 179047929 179047929 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP C T uc003mkf.3 HNRNPH1_uc011dg... Hybrid_Cap... view
ILK 11 6630029 6630029 KMH2_HAEMATOPOI... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGA10 p.G240E 1 145530987 145530987 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001eoa.2 NBPF10_uc001emp... Hybrid_Cap... view
ITGB4 p.I280V 17 73726421 73726421 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP A G uc002jpg.2 ITGB4_uc002jph.... Hybrid_Cap... view
ITIH5L p.T116R X 54818380 54818380 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP G C uc004dtj.2 Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 KMH2_HAEMATOPOI... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KIAA1549 p.P1154_splice 7 138591664 138591664 KMH2_HAEMATOPOI... 37 Splice_Site_SNP SNP C T uc011kql.1 KIAA1549_uc003v... Hybrid_Cap... view
KLK7 19 51480672 51480675 KMH2_HAEMATOPOI... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LATS2 13 21620222 21620223 KMH2_HAEMATOPOI... 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
MAF 16 79628537 79628537 KMH2_HAEMATOPOI... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 KMH2_HAEMATOPOI... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 KMH2_HAEMATOPOI... 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 KMH2_HAEMATOPOI... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 KMH2_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK12 22 50693604 50693604 KMH2_HAEMATOPOI... 37 Intron SNP G A uc003bkm.1 MAPK12_uc003bkn... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 KMH2_HAEMATOPOI... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAPKBP1 15 42111751 42111751 KMH2_HAEMATOPOI... 37 Intron SNP G T uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap... view
MCF2 p.S674* X 138684608 138684608 KMH2_HAEMATOPOI... 37 Nonsense_Mutation SNP G C uc011mwo.1 MCF2_uc004fau.2... Hybrid_Cap... view
MCM4 p.T366I 8 48879968 48879968 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP C T uc003xqk.1 MCM4_uc003xql.1... Hybrid_Cap... view
MLL p.T1516S 11 118360573 118360573 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP A T uc001ptb.2 MLL_uc001pta.2_... Hybrid_Cap... view
MST4 p.S322I X 131205212 131205212 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP G T uc011mux.1 MST4_uc004ewk.1... Hybrid_Cap... view
MTOR p.T2232I 1 11182151 11182151 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001asd.2 MTOR_uc001asc.2... Hybrid_Cap... view
MYLK3 p.D435H 16 46766279 46766279 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP C G uc002eei.3 MYLK3_uc010vge.... Hybrid_Cap... view
MYO18B p.R441H 22 26165205 26165205 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP G A uc003abz.1 MYO18B_uc003aca... Hybrid_Cap... view
N4BP2 p.K115N 4 40103810 40103810 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP A C uc003guy.3 N4BP2_uc010ifq.... Hybrid_Cap... view
NCAM1 11 112832276 112832277 KMH2_HAEMATOPOI... 37 5'UTR Ins - G uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832307 112832308 KMH2_HAEMATOPOI... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 KMH2_HAEMATOPOI... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA2 p.G278_splice 8 71075091 71075091 KMH2_HAEMATOPOI... 37 Splice_Site_SNP SNP T C uc003xyn.1 Hybrid_Cap... view
NCOA3 p.QQQ1272del 20 46279879 46279887 KMH2_HAEMATOPOI... 37 In_Frame_Del Del CAGCA... - rs75561226;rs112355546 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.T377P 13 52710309 52710309 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP T G uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 KMH2_HAEMATOPOI... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61869770 61869770 KMH2_HAEMATOPOI... 37 Intron SNP C T uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap... view
NFIA 1 61921185 61921186 KMH2_HAEMATOPOI... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NFKBIA 14 35871201 35871201 KMH2_HAEMATOPOI... 37 3'UTR SNP C T rs9333352 uc001wtf.3 NFKBIA_uc001wte... Hybrid_Cap... view
NOTCH2 p.G587S 1 120506353 120506353 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001eik.2 NOTCH2_uc001eil... Hybrid_Cap... view
NPR1 1 153665919 153665920 KMH2_HAEMATOPOI... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 KMH2_HAEMATOPOI... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUP214 9 134001047 134001047 KMH2_HAEMATOPOI... 37 5'UTR SNP C G uc004cag.2 NUP214_uc004cah... Hybrid_Cap... view
PAFAH1B2 11 117038424 117038424 KMH2_HAEMATOPOI... 37 3'UTR SNP T C uc001pqe.1 PAFAH1B2_uc009y... Hybrid_Cap... view
PAX3 2 223066017 223066018 KMH2_HAEMATOPOI... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 KMH2_HAEMATOPOI... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDGFRA 4 55130183 55130183 KMH2_HAEMATOPOI... 37 Intron SNP T C uc003han.3 PDGFRA_uc003haa... Hybrid_Cap... view
PDZRN4 p.C677F 12 41967208 41967208 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP G T uc010skn.1 PDZRN4_uc001rmq... Hybrid_Cap... view
PIK3C2A 11 17111198 17111199 KMH2_HAEMATOPOI... 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 KMH2_HAEMATOPOI... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PLEKHA5 p.I885M 12 19498783 19498783 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP A G uc010sie.1 PLEKHA5_uc001re... Hybrid_Cap... view
PREX2 8 69143713 69143714 KMH2_HAEMATOPOI... 37 3'UTR Del TT - uc003xxv.1 Hybrid_Cap...
PRKCA 17 64298959 64298960 KMH2_HAEMATOPOI... 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKD2 p.V577M 19 47193937 47193937 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP C T uc010xye.1 PRKD2_uc002pfd.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 KMH2_HAEMATOPOI... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RAF1 p.F146I 3 12650410 12650410 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP A T uc003bxf.3 RAF1_uc011aut.1... Hybrid_Cap... view
RAPGEF2 4 160189224 160189224 KMH2_HAEMATOPOI... 37 5'UTR SNP A T uc003iqg.3 Hybrid_Cap... view
RASGRF1 15 79277150 79277151 KMH2_HAEMATOPOI... 37 Intron Ins - C rs67045840;rs77640668 uc002beq.2 RASGRF1_uc002be... Hybrid_Cap...
RGL2 6 33259806 33259806 KMH2_HAEMATOPOI... 37 3'UTR SNP T G uc003odv.2 WDR46_uc003ods.... Hybrid_Cap... view
ROR1 p.P389S 1 64608324 64608324 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001dbj.2 ROR1_uc001dbi.3... Hybrid_Cap... view
RPL22 p.69_70KI>N 1 6253023 6253025 KMH2_HAEMATOPOI... 37 In_Frame_Del Del ATC - uc001amd.2 RPL22_uc001ame.... Hybrid_Cap...
RPS6KA1 p.K430N 1 26887264 26887264 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP G T uc001bms.1 RPS6KA1_uc001bm... Hybrid_Cap... view
SACS p.G4183E 13 23905467 23905467 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001uon.2 SACS_uc001uoo.2... Hybrid_Cap... view
SLC45A3 1 205633796 205633796 KMH2_HAEMATOPOI... 37 5'UTR SNP C T uc001hda.1 SLC45A3_uc010pr... Hybrid_Cap... view
STK25 2 242435659 242435662 KMH2_HAEMATOPOI... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 p.K993* 7 23871902 23871902 KMH2_HAEMATOPOI... 37 Nonsense_Mutation SNP A T uc003sws.3 STK31_uc003swt.... Hybrid_Cap... view
STK31 7 23872024 23872025 KMH2_HAEMATOPOI... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TAF1L p.R2Q 9 32635573 32635573 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP C T uc003zrg.1 Hybrid_Cap... view
TAOK3 12 118588662 118588662 KMH2_HAEMATOPOI... 37 3'UTR SNP C G uc001twx.2 TAOK3_uc001twv.... Hybrid_Cap... view
TGFB2 1 218519928 218519929 KMH2_HAEMATOPOI... 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TIAM1 p.E1470* 21 32493054 32493054 KMH2_HAEMATOPOI... 37 Nonsense_Mutation SNP C A uc002yow.1 TIAM1_uc011adk.... Hybrid_Cap... view
TIE1 1 43788562 43788562 KMH2_HAEMATOPOI... 37 3'UTR SNP T A uc001ciu.2 TIE1_uc010oke.1... Hybrid_Cap... view
TLK1 2 171850178 171850179 KMH2_HAEMATOPOI... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TP63 p.Q70H 3 189456449 189456449 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP G C uc003fry.2 TP63_uc003frx.2... Hybrid_Cap... view
TP63 3 189507518 189507519 KMH2_HAEMATOPOI... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TP63 3 189612297 189612297 KMH2_HAEMATOPOI... 37 3'UTR SNP A G uc003fry.2 TP63_uc003frz.2... Hybrid_Cap... view
TRPM6 p.W1814C 9 77354684 77354684 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP C A uc004ajl.1 TRPM6_uc004ajk.... Hybrid_Cap... view
TSSK6 p.R134H 19 19625836 19625836 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002nmr.2 TSSK6_uc002nmq.... Hybrid_Cap... view
TTN 2 179391639 179391640 KMH2_HAEMATOPOI... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.T28268P 2 179413847 179413847 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP T G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.A28033T 2 179414764 179414764 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.W19236R 2 179448499 179448499 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP A G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN 2 179611190 179611190 KMH2_HAEMATOPOI... 37 Intron SNP C A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.T2088A 2 179640329 179640329 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP T C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UNC13C p.N681K 15 54307143 54307143 KMH2_HAEMATOPOI... 37 Missense_Mutation SNP C G uc002ack.2 Hybrid_Cap... view
VAV1 19 6857169 6857169 KMH2_HAEMATOPOI... 37 3'UTR SNP G A uc002mfu.1 VAV1_uc010xjh.1... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 KMH2_HAEMATOPOI... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VRK3 p.SCSPQKT127del 19 50510972 50510992 KMH2_HAEMATOPOI... 37 In_Frame_Del Del CTGGT... - rs117711287;rs117077533 uc002prg.2 VRK3_uc002prh.1... Hybrid_Cap...