Annotation Summary for Cell Line: PF-382  

Cell line primary name: PF-382
Cell line aliases:
Gender: F
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: acute_lymphoblastic_T_cell_leukaemia
Notes:
Source: DSMZ
Expression arrays: SILOS_p_NCLE_RNA9_HG-U133_Plus_2_G05_523494
SNP arrays: AWASH_p_NCLE_DNAAffy10_GenomeWideSNP_6_C09_542834
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in PF-382

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 PF382_HAEMATOPO... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABCA3 p.A1398T 16 2331195 2331195 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc002cpy.1 ABCA3_uc010bsk.... Hybrid_Cap... view
ABI1 p.T121N 10 27066094 27066094 PF382_HAEMATOPO... 37 Missense_Mutation SNP G T uc001isx.2 ABI1_uc001ite.2... Hybrid_Cap... view
ACACA 17 35766564 35766564 PF382_HAEMATOPO... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ACACB p.P612L 12 109623400 109623400 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc001tob.2 ACACB_uc001toc.... Hybrid_Cap... view
ADAM22 p.C587R 7 87780332 87780332 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc003ujp.1 ADAM22_uc003ujk... Hybrid_Cap... view
ADAM28 8 24211994 24211997 PF382_HAEMATOPO... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS2 p.R258C 5 178634633 178634633 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc003mjw.2 ADAMTS2_uc011dg... Hybrid_Cap... view
AFF4 p.Q353R 5 132240089 132240089 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc003kyd.2 AFF4_uc011cxk.1... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 PF382_HAEMATOPO... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP6 14 33201873 33201873 PF382_HAEMATOPO... 37 Intron SNP C T uc001wrq.2 AKAP6_uc010aml.... Hybrid_Cap... view
ALPK1 4 113347609 113347610 PF382_HAEMATOPO... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALS2 p.R921Q 2 202593314 202593314 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap... view
ARHGAP29 p.S607L 1 94650998 94650998 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc001dqj.3 ARHGAP29_uc009w... Hybrid_Cap... view
ARHGEF10 p.G1060R 8 1882064 1882064 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc003wpr.2 ARHGEF10_uc003w... Hybrid_Cap... view
ARHGEF7 p.R467W 13 111927942 111927942 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc001vrs.2 ARHGEF7_uc001vr... Hybrid_Cap... view
ARHGEF7 13 111944811 111944811 PF382_HAEMATOPO... 37 3'UTR SNP T C uc001vrs.2 ARHGEF7_uc001vr... Hybrid_Cap... view
ARID1A p.D2072H 1 27106603 27106603 PF382_HAEMATOPO... 37 Missense_Mutation SNP G C uc001bmv.1 ARID1A_uc001bmu... Hybrid_Cap... view
ASTN1 p.R49C 1 177133668 177133668 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc001glc.2 ASTN1_uc001glb.... Hybrid_Cap... view
ATM p.K2515N 11 108202200 108202200 PF382_HAEMATOPO... 37 Missense_Mutation SNP A T uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
ATR p.A1232D 3 142257354 142257354 PF382_HAEMATOPO... 37 Missense_Mutation SNP G T uc003eux.3 Hybrid_Cap... view
ATRX p.E687K X 76938689 76938689 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc004ecp.3 ATRX_uc004ecq.3... Hybrid_Cap... view
AXIN1 p.D829H 16 338226 338226 PF382_HAEMATOPO... 37 Missense_Mutation SNP C G uc002cgp.1 AXIN1_uc002cgq.... Hybrid_Cap... view
BCL11B p.K480T 14 99641734 99641734 PF382_HAEMATOPO... 37 Missense_Mutation SNP T G uc001yga.2 BCL11B_uc001ygb... Hybrid_Cap... view
BCL11B p.M474V 14 99641753 99641753 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc001yga.2 BCL11B_uc001ygb... Hybrid_Cap... view
BCR 22 23631813 23631814 PF382_HAEMATOPO... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BIRC5 17 76219784 76219785 PF382_HAEMATOPO... 37 3'UTR Ins - AA uc002jvf.2 BIRC5_uc002jvg.... Hybrid_Cap...
BIRC5 p.T48T 17 76210793 76210793 PF382_HAEMATOPO... 37 Silent SNP T C uc002jvf.2 BIRC5_uc002jvc.... Hybrid_Cap... view
BIRC6 p.G2911D 2 32724877 32724877 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc010ezu.2 Hybrid_Cap... view
BIRC6 p.Q3069_splice 2 32726957 32726957 PF382_HAEMATOPO... 37 Splice_Site_SNP SNP T C uc010ezu.2 Hybrid_Cap... view
BLM p.R818H 15 91312714 91312714 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap... view
BLNK p.Y189H 10 97976451 97976451 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc001kls.3 BLNK_uc001kme.3... Hybrid_Cap... view
BMP4 14 54416601 54416602 PF382_HAEMATOPO... 37 3'UTR Del CT - rs74495140;rs76335800 uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap...
BMX p.T144N X 15534340 15534340 PF382_HAEMATOPO... 37 Missense_Mutation SNP C A uc004cww.2 BMX_uc004cwx.3_... Hybrid_Cap... view
BMX p.V392A X 15554503 15554503 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc004cww.2 BMX_uc004cwx.3_... Hybrid_Cap... view
BRCC3 p.R82H X 154305494 154305494 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc004fna.2 BRCC3_uc011mzy.... Hybrid_Cap... view
BRD3 p.A138V 9 136916770 136916770 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc004cew.2 BRD3_uc004cex.2... Hybrid_Cap... view
BTG1 12 92537706 92537707 PF382_HAEMATOPO... 37 3'UTR Ins - T rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
C9ORF96 p.T287M 9 136260884 136260884 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc004cdk.2 C9orf96_uc004cd... Hybrid_Cap... view
CACNB2 10 18828721 18828722 PF382_HAEMATOPO... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CARD14 p.A988T 17 78182091 78182091 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc002jxw.1 CARD14_uc002jxt... Hybrid_Cap... view
CASP4 p.G218E 11 104820398 104820398 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc001pid.1 CASP4_uc001pib.... Hybrid_Cap... view
CBFA2T3 p.R437H 16 88947791 88947791 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc002fmm.1 CBFA2T3_uc002fm... Hybrid_Cap... view
CD79B p.G41_splice 17 62007747 62007747 PF382_HAEMATOPO... 37 Splice_Site_SNP SNP T C uc002jdp.1 CD79B_uc002jdo.... Hybrid_Cap... view
CDC42BPA p.K1057N 1 227223232 227223232 PF382_HAEMATOPO... 37 Missense_Mutation SNP T A uc001hqr.2 CDC42BPA_uc001h... Hybrid_Cap... view
CDH1 p.Y663C 16 68857353 68857353 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc002ewg.1 CDH1_uc010vlj.1... Hybrid_Cap... view
CDK11B 1 1654066 1654068 PF382_HAEMATOPO... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK3 17 73997281 73997281 PF382_HAEMATOPO... 37 5'UTR SNP G A uc002jqg.3 CDK3_uc010dgt.2... Hybrid_Cap... view
CDK8 p.P400L 13 26975691 26975691 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc001uqr.1 CDK8_uc001uqs.1... Hybrid_Cap... view
CHD1 5 98191944 98191944 PF382_HAEMATOPO... 37 3'UTR SNP T C uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap... view
CHD5 p.R193Q 1 6214887 6214887 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc001amb.1 Hybrid_Cap... view
CHIC2 4 54876132 54876132 PF382_HAEMATOPO... 37 3'UTR Del C - rs4437313 uc003haj.1 PDGFRA_uc003haa... Hybrid_Cap...
CLTC p.N1461S 17 57761282 57761282 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc002ixr.1 CLTC_uc002ixp.2... Hybrid_Cap... view
CLTCL1 p.H1540R 22 19171111 19171111 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 PF382_HAEMATOPO... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339681 1339686 PF382_HAEMATOPO... 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
COL18A1 p.W32* 21 46875540 46875540 PF382_HAEMATOPO... 37 Nonsense_Mutation SNP G A uc011afs.1 COL18A1_uc002zh... Hybrid_Cap... view
CPAMD8 p.A90V 19 17132956 17132956 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc002nfb.2 Hybrid_Cap... view
CREBBP p.S1432P 16 3788660 3788660 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CREBBP p.S1108L 16 3808901 3808901 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CREBBP p.M395T 16 3843419 3843419 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CSMD3 p.Q3285R 8 113275876 113275876 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.V1982A 8 113395882 113395882 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.K544R 8 113933858 113933858 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc003ynu.2 CSMD3_uc003ynt.... Hybrid_Cap... view
CSNK1D p.H120H 17 80211097 80211097 PF382_HAEMATOPO... 37 Silent SNP A G uc002kef.2 SLC16A3_uc002ke... Hybrid_Cap... view
CSNK1G3 p.R453H 5 122950080 122950080 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc003ktl.2 CSNK1G3_uc003kt... Hybrid_Cap... view
CUBN p.H2714R 10 16943380 16943380 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc001ioo.2 CUBN_uc009xjq.1... Hybrid_Cap... view
CXCL12 10 44873992 44873993 PF382_HAEMATOPO... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
CYFIP1 15 22956343 22956343 PF382_HAEMATOPO... 37 Intron SNP C T uc001yus.2 CYFIP1_uc001yut... Hybrid_Cap... view
DAXX p.C439Y 6 33287973 33287973 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc011dre.1 ZBTB22_uc003oeb... Hybrid_Cap... view
DDR2 1 162750211 162750212 PF382_HAEMATOPO... 37 3'UTR Del TT - uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap...
DDX10 p.V195M 11 108549087 108549087 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc001pkm.2 DDX10_uc001pkl.... Hybrid_Cap... view
DICER1 14 95562015 95562015 PF382_HAEMATOPO... 37 Intron SNP T C uc001ydw.2 DICER1_uc010avh... Hybrid_Cap... view
DICER1 p.Q1447K 14 95562918 95562918 PF382_HAEMATOPO... 37 Missense_Mutation SNP G T uc001ydw.2 DICER1_uc010avh... Hybrid_Cap... view
DIP2C p.V841M 10 409208 409208 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc001ifp.2 DIP2C_uc009xhi.... Hybrid_Cap... view
DLC1 p.R1010Q 8 12956046 12956046 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc003wwm.2 DLC1_uc003wwk.1... Hybrid_Cap... view
DLL4 p.S603T 15 41228992 41228992 PF382_HAEMATOPO... 37 Missense_Mutation SNP T A uc001zng.1 Hybrid_Cap... view
DOCK3 p.H1020R 3 51349476 51349476 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc011bds.1 Hybrid_Cap... view
EEF2K p.C482W 16 22277716 22277716 PF382_HAEMATOPO... 37 Missense_Mutation SNP T G uc002dki.2 EEF2K_uc002dkh.... Hybrid_Cap... view
EIF2AK4 p.K975E 15 40293189 40293189 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc001zkm.1 EIF2AK4_uc010bb... Hybrid_Cap... view
EML4 p.K42R 2 42472744 42472744 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc002rsi.2 EML4_uc002rsh.3... Hybrid_Cap... view
EPHA6 3 97367230 97367231 PF382_HAEMATOPO... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA6 3 97455026 97455026 PF382_HAEMATOPO... 37 Intron SNP A G uc010how.1 EPHA6_uc003drt.... Hybrid_Cap... view
EPHB1 p.W919R 3 134968242 134968242 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc003eqt.2 EPHB1_uc003equ.... Hybrid_Cap... view
ERBB3 p.N487S 12 56487314 56487314 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap... view
ERC1 p.D171G 12 1137581 1137581 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc001qjb.2 ERC1_uc001qiz.2... Hybrid_Cap... view
ERC1 p.S807G 12 1346002 1346002 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc001qjb.2 ERC1_uc001qiz.2... Hybrid_Cap... view
ERG p.Q168* 21 39775539 39775539 PF382_HAEMATOPO... 37 Nonsense_Mutation SNP G A uc010gnw.2 ERG_uc002yxa.2_... Hybrid_Cap... view
ETV1 7 14028708 14028708 PF382_HAEMATOPO... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
EWSR1 22 29687480 29687481 PF382_HAEMATOPO... 37 Intron Ins - C rs66871950 uc003aev.2 EWSR1_uc003aet.... Hybrid_Cap...
FAM132A 1 1177919 1177919 PF382_HAEMATOPO... 37 3'UTR Del T - uc001adl.1 Hybrid_Cap...
FANCA p.M569T 16 89846286 89846286 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc002fou.1 FANCA_uc010vpn.... Hybrid_Cap... view
FANCF p.N244D 11 22646627 22646627 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc001mql.1 Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 PF382_HAEMATOPO... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809126 1809127 PF382_HAEMATOPO... 37 3'UTR Del GC - rs73202816 uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 PF382_HAEMATOPO... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 PF382_HAEMATOPO... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FN1 p.P1289P 2 216257856 216257856 PF382_HAEMATOPO... 37 Silent SNP C T uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap... view
FNBP1 9 132658078 132658079 PF382_HAEMATOPO... 37 Intron Ins - T rs71738364 uc004byw.1 FNBP1_uc011mbv.... Hybrid_Cap...
FOXO1 p.M498T 13 41134135 41134135 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc001uxl.3 FOXO1_uc010acc.... Hybrid_Cap... view
FUS p.A348T 16 31201088 31201088 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc002ebi.2 FUS_uc002ebf.2_... Hybrid_Cap... view
GAS7 17 9939846 9939846 PF382_HAEMATOPO... 37 Intron SNP C T uc002gmg.1 GAS7_uc002gmj.1... Hybrid_Cap... view
GATA2 p.A411V 3 128200073 128200073 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc003ekm.3 GATA2_uc003ekn.... Hybrid_Cap... view
GNAQ p.R166H 9 80412544 80412544 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc004akw.2 GNAQ_uc011lso.1... Hybrid_Cap... view
GNAS p.R660H 20 57430299 57430299 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc002xzw.2 GNAS_uc002xzt.2... Hybrid_Cap... view
GRIA3 X 122318369 122318369 PF382_HAEMATOPO... 37 5'UTR SNP A G uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap... view
GRIA3 X 122318386 122318387 PF382_HAEMATOPO... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIN2B p.A1238V 12 13716459 13716459 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc001rbt.2 Hybrid_Cap... view
GRK4 p.G299S 4 3021521 3021521 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc003ggn.1 GRK4_uc003ggo.1... Hybrid_Cap... view
GRK4 p.F365L 4 3030960 3030960 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc003ggn.1 GRK4_uc003ggo.1... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 PF382_HAEMATOPO... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
GUCY2F p.D693N X 108647605 108647605 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc004eod.3 GUCY2F_uc011msq... Hybrid_Cap... view
HERC2 p.V3260M 15 28420711 28420711 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc001zbj.2 Hybrid_Cap... view
HIF1A 14 62213929 62213930 PF382_HAEMATOPO... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HIPK1 p.P647L 1 114500872 114500872 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc001eem.2 HIPK1_uc001eel.... Hybrid_Cap... view
HNF1A p.R229* 12 121431481 121431481 PF382_HAEMATOPO... 37 Nonsense_Mutation SNP C T uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 PF382_HAEMATOPO... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90AB1 p.A662T 6 44221034 44221034 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc003oxa.1 HSP90AB1_uc011d... Hybrid_Cap... view
HSP90AB1 p.A717V 6 44221310 44221310 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc003oxa.1 HSP90AB1_uc011d... Hybrid_Cap... view
HSP90B1 12 104341645 104341648 PF382_HAEMATOPO... 37 3'UTR Del ACTG - rs2307842 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
IFNG p.N48S 12 68552011 68552011 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc001stw.1 Hybrid_Cap... view
IGF1R 15 99192755 99192762 PF382_HAEMATOPO... 37 5'UTR Del TTTTT... - uc002bul.2 IGF1R_uc010urq.... Hybrid_Cap...
IL1RN p.L116P 2 113890252 113890252 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc002tiz.2 IL1RN_uc002tix.... Hybrid_Cap... view
ILK 11 6630029 6630029 PF382_HAEMATOPO... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INSR p.V126A 19 7267631 7267631 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc002mgd.1 INSR_uc002mge.1... Hybrid_Cap... view
ITGA10 p.R161_splice 1 145528685 145528685 PF382_HAEMATOPO... 37 Splice_Site_SNP SNP G A uc001eoa.2 NBPF10_uc001emp... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 PF382_HAEMATOPO... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAG1 p.E1127K 20 10620424 10620424 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc002wnw.2 Hybrid_Cap... view
JAG2 p.A699V 14 105614701 105614701 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc001yqg.2 JAG2_uc010axf.2... Hybrid_Cap... view
KALRN p.E2845G 3 124437890 124437890 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc003ehg.2 KALRN_uc003ehk.... Hybrid_Cap... view
KDM6A p.R1331* X 44950066 44950066 PF382_HAEMATOPO... 37 Nonsense_Mutation SNP C T uc011mkz.1 KDM6A_uc004dge.... Hybrid_Cap... view
KDR p.R791Q 4 55964865 55964865 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc003has.2 KDR_uc003hat.1_... Hybrid_Cap... view
KLK7 19 51480672 51480675 PF382_HAEMATOPO... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LAMA1 p.F2544L 18 6959488 6959488 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc002knm.2 LAMA1_uc002knl.... Hybrid_Cap... view
LAMA1 18 6965520 6965520 PF382_HAEMATOPO... 37 Intron SNP A G uc002knm.2 LAMA1_uc002knl.... Hybrid_Cap... view
LEMD1 p.A61V 1 205388381 205388381 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc001hci.1 LEMD1_uc001hcj.... Hybrid_Cap... view
LIMK2 p.V146M 22 31656011 31656011 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc003akj.2 LIMK2_uc003akg.... Hybrid_Cap... view
LRP1 p.R3547H 12 57596249 57596249 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc001snd.2 Hybrid_Cap... view
LRP1 12 57606442 57606442 PF382_HAEMATOPO... 37 3'UTR SNP G T uc001snd.2 Hybrid_Cap... view
LRP2 p.R4154_splice 2 170009307 170009307 PF382_HAEMATOPO... 37 Splice_Site_SNP SNP A G uc002ues.2 Hybrid_Cap... view
LRP2 p.L3183H 2 170042310 170042310 PF382_HAEMATOPO... 37 Missense_Mutation SNP A T uc002ues.2 Hybrid_Cap... view
LRP6 p.V558A 12 12318102 12318102 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc001rah.3 BCL2L14_uc001ra... Hybrid_Cap... view
LRRK1 p.S108N 15 101523794 101523794 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc002bwr.2 LRRK1_uc010usb.... Hybrid_Cap... view
MAF 16 79628537 79628537 PF382_HAEMATOPO... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 PF382_HAEMATOPO... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 PF382_HAEMATOPO... 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP2K1 p.F129L 15 66729177 66729177 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc010bhq.2 MAP2K1_uc010ujp... Hybrid_Cap... view
MAP2K1 p.V211A 15 66774156 66774156 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc010bhq.2 MAP2K1_uc010ujp... Hybrid_Cap... view
MAP3K1 p.R853C 5 56177584 56177584 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc003jqw.3 Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 PF382_HAEMATOPO... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 PF382_HAEMATOPO... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K14 p.A122V 17 43364692 43364692 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap... view
MAP3K4 p.A1199del 6 161519351 161519353 PF382_HAEMATOPO... 37 In_Frame_Del Del CTG - uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap...
MAP3K5 p.R302* 6 137018428 137018428 PF382_HAEMATOPO... 37 Nonsense_Mutation SNP G A uc003qhc.2 MAP3K5_uc011edk... Hybrid_Cap... view
MAP3K5 p.L260P 6 137019654 137019654 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc003qhc.2 MAP3K5_uc011edk... Hybrid_Cap... view
MAP4K1 p.Q212Q 19 39103280 39103280 PF382_HAEMATOPO... 37 Silent SNP C T uc002oix.1 MAP4K1_uc002oiy... Hybrid_Cap... view
MAPK12 22 50694373 50694373 PF382_HAEMATOPO... 37 Intron SNP G A uc003bkm.1 MAPK12_uc003bkn... Hybrid_Cap... view
MAPK9 p.Y191C 5 179676017 179676017 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc003mls.3 MAPK9_uc003mlt.... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 PF382_HAEMATOPO... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MARK1 p.D676N 1 220831166 220831166 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc009xdw.2 MARK1_uc001hmn.... Hybrid_Cap... view
MAST2 p.S356G 1 46476489 46476489 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc001cov.2 MAST2_uc001cow.... Hybrid_Cap... view
MECOM p.H1014N 3 168810870 168810870 PF382_HAEMATOPO... 37 Missense_Mutation SNP G T uc011bpj.1 MECOM_uc010hwk.... Hybrid_Cap... view
MECOM p.V585A 3 168833906 168833906 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc011bpj.1 MECOM_uc010hwk.... Hybrid_Cap... view
MGA p.K671_splice 15 41989222 41989222 PF382_HAEMATOPO... 37 Splice_Site_SNP SNP G T uc010ucy.1 MGA_uc001zog.1_... Hybrid_Cap... view
MGC42105 p.R120* 5 43277224 43277224 PF382_HAEMATOPO... 37 Nonsense_Mutation SNP C T uc003jno.2 Hybrid_Cap... view
MMP1 p.D363G 11 102662172 102662172 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc001phi.2 MMP1_uc010ruv.1... Hybrid_Cap... view
MMP8 p.T6T 11 102595569 102595569 PF382_HAEMATOPO... 37 Silent SNP C T uc001phe.2 MMP8_uc010rut.1... Hybrid_Cap... view
MMP9 p.A333_splice 20 44640388 44640388 PF382_HAEMATOPO... 37 Splice_Site_SNP SNP T C uc002xqz.2 Hybrid_Cap... view
MN1 p.T1051M 22 28193380 28193380 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc003adj.2 Hybrid_Cap... view
MN1 p.A465T 22 28195139 28195139 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc003adj.2 Hybrid_Cap... view
MOS p.F71L 8 57026331 57026331 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc011leb.1 Hybrid_Cap... view
MSH3 p.PPA66del 5 79950742 79950750 PF382_HAEMATOPO... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MSH6 p.Y1006N 2 48028138 48028138 PF382_HAEMATOPO... 37 Missense_Mutation SNP T A uc002rwd.3 MSH6_uc002rwc.2... Hybrid_Cap... view
MSI2 17 55334397 55334397 PF382_HAEMATOPO... 37 Intron SNP T C uc002iuz.1 MSI2_uc010wnm.1... Hybrid_Cap... view
MST1R 3 49935463 49935463 PF382_HAEMATOPO... 37 Intron SNP A G uc003cxy.3 MST1R_uc011bdd.... Hybrid_Cap... view
MST4 p.I54N X 131188777 131188777 PF382_HAEMATOPO... 37 Missense_Mutation SNP T A uc011mux.1 MST4_uc004ewk.1... Hybrid_Cap... view
MUSK p.G693E 9 113562736 113562736 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc004bey.2 MUSK_uc004bez.1... Hybrid_Cap... view
MYH11 p.M1363L 16 15818554 15818554 PF382_HAEMATOPO... 37 Missense_Mutation SNP T A uc002ddx.2 MYH11_uc002ddv.... Hybrid_Cap... view
MYH9 p.R755H 22 36700167 36700167 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc003apg.2 MYH9_uc003aph.1... Hybrid_Cap... view
MYLK p.S1776P 3 123339096 123339096 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap... view
MYO18B p.I1921L 22 26346345 26346345 PF382_HAEMATOPO... 37 Missense_Mutation SNP A C uc003abz.1 MYO18B_uc003aca... Hybrid_Cap... view
MYO3A p.E1588D 10 26500805 26500805 PF382_HAEMATOPO... 37 Missense_Mutation SNP G T uc001isn.2 MYO3A_uc009xkp.... Hybrid_Cap... view
MYST3 p.I588V 8 41805409 41805409 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc010lxb.2 MYST3_uc010lxc.... Hybrid_Cap... view
MYST4 p.E1104del 10 76781906 76781908 PF382_HAEMATOPO... 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
MYT1 p.E284E 20 62839401 62839401 PF382_HAEMATOPO... 37 Silent SNP A G uc002yii.2 MYT1_uc002yih.2... Hybrid_Cap... view
N4BP2 p.P365T 4 40104558 40104558 PF382_HAEMATOPO... 37 Missense_Mutation SNP C A uc003guy.3 N4BP2_uc010ifq.... Hybrid_Cap... view
NAV3 p.S1459P 12 78522580 78522580 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 PF382_HAEMATOPO... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 PF382_HAEMATOPO... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK1 p.R785H 4 170398355 170398355 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc003isd.1 NEK1_uc003isb.1... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 PF382_HAEMATOPO... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NEK5 p.A544T 13 52656391 52656391 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc001vge.2 Hybrid_Cap... view
NEK9 p.Y584H 14 75568450 75568450 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc001xrl.2 NEK9_uc001xrk.2... Hybrid_Cap... view
NF1 p.G2512S 17 29679351 29679351 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc002hgg.2 NF1_uc002hgh.2_... Hybrid_Cap... view
NFATC1 18 77287690 77287690 PF382_HAEMATOPO... 37 3'UTR SNP T C uc010xfg.1 NFATC1_uc002lnd... Hybrid_Cap... view
NFIA 1 61921185 61921186 PF382_HAEMATOPO... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NGF p.S53N 1 115829259 115829259 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc001efu.1 Hybrid_Cap... view
NIPBL p.R2721* 5 37064740 37064740 PF382_HAEMATOPO... 37 Nonsense_Mutation SNP C T uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap... view
NLRP3 p.V676A 1 247588772 247588772 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap... view
NOTCH1 p.L1574P 9 139399422 139399422 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc004chz.2 NOTCH1_uc004cia... Hybrid_Cap... view
NPAT 11 108093305 108093305 PF382_HAEMATOPO... 37 5'UTR SNP A T uc001pjz.3 ATM_uc001pkb.1_... Hybrid_Cap... view
NPM1 5 170837734 170837734 PF382_HAEMATOPO... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 PF382_HAEMATOPO... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 PF382_HAEMATOPO... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 PF382_HAEMATOPO... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR3C1 p.R570W 5 142680092 142680092 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc003lmy.2 NR3C1_uc003lmz.... Hybrid_Cap... view
NR4A3 9 102626240 102626243 PF382_HAEMATOPO... 37 3'UTR Del TCCT - uc004bai.2 NR4A3_uc004baf.... Hybrid_Cap...
NRAS p.G12S 1 115258748 115258748 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc009wgu.2 Hybrid_Cap... view
NRK p.Q737R X 105153843 105153843 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc004emd.2 NRK_uc010npc.1_... Hybrid_Cap... view
NTRK2 p.D640G 9 87563531 87563531 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc004anz.1 NTRK2_uc004any.... Hybrid_Cap... view
NTRK3 p.R702T 15 88472450 88472450 PF382_HAEMATOPO... 37 Missense_Mutation SNP C G uc002bme.1 NTRK3_uc002bmh.... Hybrid_Cap... view
NTRK3 p.Y353H 15 88678479 88678479 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc002bme.1 NTRK3_uc002bmh.... Hybrid_Cap... view
NUMA1 p.A1322V 11 71724584 71724584 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc001orl.1 NUMA1_uc009ysw.... Hybrid_Cap... view
OBSCN p.E4661A 1 228505725 228505725 PF382_HAEMATOPO... 37 Missense_Mutation SNP A C uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
ODZ1 p.R2660C X 123514607 123514607 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc010nqy.2 ODZ1_uc011muj.1... Hybrid_Cap... view
ODZ1 p.Q1118L X 123637502 123637502 PF382_HAEMATOPO... 37 Missense_Mutation SNP T A uc010nqy.2 ODZ1_uc011muj.1... Hybrid_Cap... view
OLIG2 21 34399138 34399138 PF382_HAEMATOPO... 37 5'UTR SNP C T uc002yqx.1 Hybrid_Cap... view
OSR1 p.R116H 2 19553220 19553220 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc002rdc.2 Hybrid_Cap... view
P4HB p.D365G 17 79803830 79803830 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc002kbn.1 P4HB_uc002kbl.1... Hybrid_Cap... view
P4HB p.D163D 17 79813153 79813153 PF382_HAEMATOPO... 37 Silent SNP G A uc002kbn.1 P4HB_uc002kbm.1... Hybrid_Cap... view
PAK3 p.K160N X 110391060 110391060 PF382_HAEMATOPO... 37 Missense_Mutation SNP A C uc010npv.1 PAK3_uc010npt.1... Hybrid_Cap... view
PAK3 X 110463760 110463760 PF382_HAEMATOPO... 37 3'UTR SNP G A uc010npv.1 PAK3_uc010npt.1... Hybrid_Cap... view
PAK7 p.A466T 20 9546626 9546626 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc002wnl.2 PAK7_uc002wnk.2... Hybrid_Cap... view
PAPPA p.R1533W 9 119130025 119130025 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc004bjn.2 PAPPA_uc011lxq.... Hybrid_Cap... view
PAX3 2 223158653 223158653 PF382_HAEMATOPO... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158841 223158841 PF382_HAEMATOPO... 37 Intron SNP T C uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap... view
PBX1 p.R238W 1 164776789 164776789 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc001gct.2 PBX1_uc010pku.1... Hybrid_Cap... view
PCDH15 p.R787M 10 55782833 55782833 PF382_HAEMATOPO... 37 Missense_Mutation SNP C A uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap... view
PCDH15 p.L782P 10 55782848 55782848 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap... view
PCM1 p.L856P 8 17820713 17820714 PF382_HAEMATOPO... 37 Missense_Mutation DNP TA CT rs6991775 uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap...
PDE4DIP p.Q1665fs 1 144873963 144873963 PF382_HAEMATOPO... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 PF382_HAEMATOPO... 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PGR 11 100933598 100933599 PF382_HAEMATOPO... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PINK1 p.D525N 1 20977011 20977011 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc001bdm.2 PINK1_uc001bdn.... Hybrid_Cap... view
PIP4K2B p.N59S 17 36943157 36943157 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc002hqs.2 PIP4K2B_uc010wd... Hybrid_Cap... view
PLCG1 20 39802187 39802187 PF382_HAEMATOPO... 37 Intron SNP T G uc002xjo.1 PLCG1_uc002xjp.... Hybrid_Cap... view
PLK3 p.T268M 1 45268680 45268680 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc001cmn.2 PLK3_uc001cmo.2... Hybrid_Cap... view
PREX2 p.S1120P 8 69030816 69030816 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc003xxv.1 Hybrid_Cap... view
PRKCE 2 46412042 46412042 PF382_HAEMATOPO... 37 3'UTR SNP T C uc002rut.2 Hybrid_Cap... view
PRKCI p.A129T 3 169985723 169985723 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc003fgs.2 Hybrid_Cap... view
PRKCQ p.R625C 10 6483917 6483917 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc001iji.1 PRKCQ_uc009xim.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 PF382_HAEMATOPO... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKG1 10 52751071 52751079 PF382_HAEMATOPO... 37 5'UTR Del GCCGC... - uc001jjm.2 PRKG1_uc010qhp.... Hybrid_Cap...
PRKG1 p.M428V 10 54031218 54031218 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc001jjo.2 PRKG1_uc001jjm.... Hybrid_Cap... view
PTCH1 p.M372V 9 98241383 98241383 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc004avk.3 PTCH1_uc010mro.... Hybrid_Cap... view
PTCH1 p.S64S 9 98278911 98278911 PF382_HAEMATOPO... 37 Silent SNP G A uc004avm.3 PTCH1_uc010mrr.... Hybrid_Cap... view
PTEN p.K164_splice 10 89693010 89693011 PF382_HAEMATOPO... 37 Splice_Site_Ins Ins - GCCG uc001kfb.2 Hybrid_Cap...
PTGS2 p.R453C 1 186644429 186644429 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc001gsb.2 PTGS2_uc009wyo.... Hybrid_Cap... view
PTK2B 8 27288654 27288654 PF382_HAEMATOPO... 37 Intron SNP C G uc003xfn.1 PTK2B_uc003xfo.... Hybrid_Cap... view
PTPRT p.R870H 20 40790122 40790122 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc010ggj.2 PTPRT_uc002xkg.... Hybrid_Cap... view
RAPGEF2 p.R1151* 4 160273905 160273905 PF382_HAEMATOPO... 37 Nonsense_Mutation SNP C T uc003iqg.3 Hybrid_Cap... view
RASA1 p.N660S 5 86670701 86670701 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc003kiw.2 RASA1_uc010jav.... Hybrid_Cap... view
RASGRF1 p.S577G 15 79310126 79310126 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc002beq.2 RASGRF1_uc002be... Hybrid_Cap... view
RBM15 p.T737I 1 110884237 110884237 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc001dzl.1 RBM15_uc001dzm.... Hybrid_Cap... view
RBM15 p.E746del 1 110884261 110884263 PF382_HAEMATOPO... 37 In_Frame_Del Del AAG - uc001dzl.1 RBM15_uc001dzm.... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 PF382_HAEMATOPO... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RECQL4 p.Y621C 8 145739589 145739589 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc003zdj.2 Hybrid_Cap... view
RGL1 p.P649H 1 183885672 183885672 PF382_HAEMATOPO... 37 Missense_Mutation SNP C A uc001gqm.2 RGL1_uc010pog.1... Hybrid_Cap... view
RGL4 22 24034121 24034121 PF382_HAEMATOPO... 37 5'UTR SNP A G uc002zxn.2 LOC91316_uc002z... Hybrid_Cap... view
RIPK2 p.R41R 8 90770411 90770411 PF382_HAEMATOPO... 37 Silent SNP C T uc003yee.2 RIPK2_uc003yef.... Hybrid_Cap... view
RIPK4 p.I624V 21 43161483 43161483 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc002yzn.1 Hybrid_Cap... view
ROCK2 2 11323530 11323530 PF382_HAEMATOPO... 37 3'UTR SNP A G uc002rbd.1 Hybrid_Cap... view
RPGRIP1 p.Y682C 14 21793059 21793059 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc001wag.2 RPGRIP1_uc001wa... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 PF382_HAEMATOPO... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KA6 p.L182P X 83390175 83390175 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc004eej.1 RPS6KA6_uc011mq... Hybrid_Cap... view
RPS6KB1 17 58024224 58024225 PF382_HAEMATOPO... 37 3'UTR Ins - AA rs67846207 uc002ixy.2 RPS6KB1_uc010dd... Hybrid_Cap...
RPS6KB2 p.S244N 11 67200620 67200620 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc001old.2 RPS6KB2_uc001ol... Hybrid_Cap... view
RPS6KB2 p.Y260H 11 67200667 67200667 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc001old.2 RPS6KB2_uc001ol... Hybrid_Cap... view
RPS6KL1 p.Y206H 14 75377999 75377999 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc010tux.1 RPS6KL1_uc001xq... Hybrid_Cap... view
SACS p.F2934V 13 23909215 23909215 PF382_HAEMATOPO... 37 Missense_Mutation SNP A C uc001uon.2 SACS_uc001uoo.2... Hybrid_Cap... view
SEPT5 p.A189T 22 19708139 19708139 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc002zpv.1 SEPT5_uc002zpw.... Hybrid_Cap... view
SETDB1 p.R736Q 1 150923560 150923560 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc001evu.2 SETDB1_uc009wmf... Hybrid_Cap... view
SGK223 p.875_876SS>S 8 8185665 8185667 PF382_HAEMATOPO... 37 In_Frame_Del Del GAG - uc003wsh.3 Hybrid_Cap...
SIRT1 p.Y650C 10 69676055 69676055 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc001jnd.2 SIRT1_uc010qis.... Hybrid_Cap... view
SMG1 p.H2611R 16 18847480 18847480 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc002dfm.2 SMG1_uc010bwb.2... Hybrid_Cap... view
SMURF2 p.S679P 17 62543754 62543754 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc002jep.1 SMURF2_uc002jeq... Hybrid_Cap... view
SPEN p.I3661V 1 16265908 16265908 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc001axk.1 SPEN_uc010obp.1... Hybrid_Cap... view
SRPK1 p.R31R 6 35858774 35858774 PF382_HAEMATOPO... 37 Silent SNP G T uc003olj.2 SRPK1_uc011dtg.... Hybrid_Cap... view
SRPK2 p.R144* 7 104807908 104807908 PF382_HAEMATOPO... 37 Nonsense_Mutation SNP G A uc003vcv.2 SRPK2_uc003vct.... Hybrid_Cap... view
STAG3 p.K933T 7 99801741 99801741 PF382_HAEMATOPO... 37 Missense_Mutation SNP A C uc003utx.1 STAG3_uc011kjk.... Hybrid_Cap... view
STARD3 p.L423P 17 37819091 37819091 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc002hsd.2 STARD3_uc010weh... Hybrid_Cap... view
STAT1 2 191840353 191840353 PF382_HAEMATOPO... 37 Intron Del T - uc002usj.2 STAT1_uc010fse.... Hybrid_Cap...
STK31 7 23872024 23872025 PF382_HAEMATOPO... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
SUFU p.W163* 10 104352373 104352373 PF382_HAEMATOPO... 37 Nonsense_Mutation SNP G A uc001kvy.1 SUFU_uc001kvw.1... Hybrid_Cap... view
TAF1 p.R638H X 70602920 70602920 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc004dzt.3 BCYRN1_uc011mpt... Hybrid_Cap... view
TCF3 19 1611683 1611683 PF382_HAEMATOPO... 37 3'UTR SNP C T uc002ltq.2 TCF3_uc002ltn.2... Hybrid_Cap... view
TCL6 14 96129749 96129749 PF382_HAEMATOPO... 37 5'UTR SNP G A uc001yeq.2 TCL6_uc001yep.1... Hybrid_Cap... view
TEC 4 48139307 48139310 PF382_HAEMATOPO... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TESK2 p.A251T 1 45812692 45812692 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc001cns.1 TESK2_uc009vxr.... Hybrid_Cap... view
TGFB1 p.R243C 19 41847921 41847921 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc002oqh.1 CYP2F1_uc010xvw... Hybrid_Cap... view
TGFB2 p.Y369C 1 218610774 218610774 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc001hln.2 TGFB2_uc001hlm.... Hybrid_Cap... view
THBS3 p.A323A 1 155172181 155172181 PF382_HAEMATOPO... 37 Silent SNP A G uc001fix.2 RAG1AP1_uc010pe... Hybrid_Cap... view
TIAM1 p.S6R 21 32639271 32639271 PF382_HAEMATOPO... 37 Missense_Mutation SNP A T uc002yow.1 TIAM1_uc011adk.... Hybrid_Cap... view
TLK1 2 171850178 171850179 PF382_HAEMATOPO... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TLN1 p.E2514V 9 35697873 35697873 PF382_HAEMATOPO... 37 Missense_Mutation SNP T A uc003zxt.2 Hybrid_Cap... view
TLN1 p.T1428A 9 35710602 35710602 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc003zxt.2 Hybrid_Cap... view
TLN1 p.T122A 9 35724716 35724716 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc003zxt.2 TLN1_uc003zxu.3... Hybrid_Cap... view
TLR3 p.A888T 4 187005974 187005974 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc003iyq.2 TLR3_uc011ckz.1... Hybrid_Cap... view
TMEM123 11 102269398 102269398 PF382_HAEMATOPO... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TMPO p.G265E 12 98926829 98926829 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc001tfh.1 TMPO_uc001tfi.1... Hybrid_Cap... view
TNFRSF1A 12 6451038 6451038 PF382_HAEMATOPO... 37 5'UTR SNP C G uc001qnu.2 TNFRSF1A_uc010s... Hybrid_Cap... view
TNFRSF9 p.K115fs 1 7998254 7998254 PF382_HAEMATOPO... 37 Frame_Shift_Del Del T - rs9657965 uc001aot.2 Hybrid_Cap...
TNK2 p.V716M 3 195595212 195595212 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc003fvt.1 TNK2_uc003fvq.1... Hybrid_Cap... view
TNRC6B p.V1215M 22 40681709 40681709 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap... view
TOPBP1 p.R1110H 3 133339041 133339041 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T uc003eps.2 TOPBP1_uc003ept... Hybrid_Cap... view
TP53 p.R273Y 17 7577120 7577121 PF382_HAEMATOPO... 37 Missense_Mutation DNP CG TA rs28934576 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap...
TP53 p.R248Q 17 7577538 7577538 PF382_HAEMATOPO... 37 Missense_Mutation SNP C T rs11540652 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP53 p.N239S 17 7577565 7577565 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP53 17 7578084 7578084 PF382_HAEMATOPO... 37 Intron SNP G A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 PF382_HAEMATOPO... 37 Intron Ins - AG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIM33 p.I1031V 1 114942108 114942108 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc001eew.2 TRIM33_uc010owr... Hybrid_Cap... view
TRIO p.A795T 5 14359632 14359632 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc003jff.2 TRIO_uc003jfg.2... Hybrid_Cap... view
TSC2 p.K250E 16 2106744 2106744 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc002con.2 TSC2_uc010bsd.2... Hybrid_Cap... view
TTBK1 p.G314D 6 43225629 43225629 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc003ouq.1 Hybrid_Cap... view
TTL p.V181M 2 113258854 113258854 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc002thu.2 TTL_uc010fkm.1_... Hybrid_Cap... view
TTN p.D32060G 2 179397459 179397459 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.Y30860C 2 179401191 179401191 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.C25052R 2 179428001 179428001 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.R24960W 2 179428277 179428277 PF382_HAEMATOPO... 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.H18511R 2 179452898 179452898 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.W15844R 2 179466764 179466764 PF382_HAEMATOPO... 37 Missense_Mutation SNP A G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.K13433E 2 179481615 179481615 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.H12188R 2 179494982 179494982 PF382_HAEMATOPO... 37 Missense_Mutation SNP T C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...