Annotation Summary for Cell Line: KMS-12-BM  

Cell line primary name: KMS-12-BM
Cell line aliases:
Gender: F
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: plasma_cell_myeloma
Notes:
Source: DSMZ
Expression arrays: METIS_p_NCLE_RNA1_Human_U133_Plus_2.0_F04_240976
SNP arrays: LIMPS_p_NCLE_DNA2N_GenomeWideSNP_6_C06_246668
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in KMS-12-BM

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 KMS12BM_HAEMATO... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM28 8 24193269 24193269 KMS12BM_HAEMATO... 37 Intron SNP T G uc003xdy.2 ADAM28_uc003xdx... Hybrid_Cap... view
ADAM28 8 24211994 24211997 KMS12BM_HAEMATO... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS18 p.G704R 16 77356286 77356286 KMS12BM_HAEMATO... 37 Missense_Mutation SNP C T uc002ffc.3 ADAMTS18_uc010c... Hybrid_Cap... view
ADCK1 14 78390632 78390637 KMS12BM_HAEMATO... 37 Intron Del AAACT... - rs78274857;rs74969652 uc001xui.2 ADCK1_uc010tvo.... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 KMS12BM_HAEMATO... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP6 14 33201982 33201983 KMS12BM_HAEMATO... 37 Intron Ins - T rs71868172 uc001wrq.2 AKAP6_uc010aml.... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 KMS12BM_HAEMATO... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ASPH 8 62415744 62415744 KMS12BM_HAEMATO... 37 3'UTR SNP C T uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap... view
ATP10A p.R244C 15 25981213 25981213 KMS12BM_HAEMATO... 37 Missense_Mutation SNP G A rs114003800 uc010ayu.2 Hybrid_Cap... view
ATP11A p.C176Y 13 113470482 113470482 KMS12BM_HAEMATO... 37 Missense_Mutation SNP G A uc001vsj.3 ATP11A_uc001vsi... Hybrid_Cap... view
AURKC 19 57742531 57742532 KMS12BM_HAEMATO... 37 5'UTR Ins - C uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCL2A1 15 80253390 80253390 KMS12BM_HAEMATO... 37 3'UTR SNP T C uc002bfc.3 BCL2A1_uc002bfd... Hybrid_Cap... view
BLM p.H886N 15 91326152 91326152 KMS12BM_HAEMATO... 37 Missense_Mutation SNP C A uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap... view
BRD3 p.E496D 9 136905311 136905311 KMS12BM_HAEMATO... 37 Missense_Mutation SNP C G uc004cew.2 BRD3_uc004cex.2... Hybrid_Cap... view
BTG1 12 92537707 92537707 KMS12BM_HAEMATO... 37 3'UTR Del T - uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
CABC1 1 227171585 227171585 KMS12BM_HAEMATO... 37 Intron Del T - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CD40 20 44751404 44751404 KMS12BM_HAEMATO... 37 Intron SNP C G uc002xrg.1 CD40_uc002xrf.1... Hybrid_Cap... view
CDK13 p.Q544H 7 40027618 40027618 KMS12BM_HAEMATO... 37 Missense_Mutation SNP G T uc003thh.3 CDK13_uc003thi.... Hybrid_Cap... view
CDKN2C p.L21fs 1 51436102 51436103 KMS12BM_HAEMATO... 37 Frame_Shift_Del Del TT - uc001csf.2 CDKN2C_uc001csg... Hybrid_Cap...
CEP110 p.L1321_splice 9 123912763 123912763 KMS12BM_HAEMATO... 37 Splice_Site_SNP SNP T G uc004bkx.1 CEP110_uc004bky... Hybrid_Cap... view
CHRNA5 15 78885615 78885616 KMS12BM_HAEMATO... 37 3'UTR Ins - TA rs72534078 uc002bdy.2 CHRNA3_uc002bea... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 KMS12BM_HAEMATO... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
COL1A1 17 48262618 48262619 KMS12BM_HAEMATO... 37 3'UTR Ins - TT rs71869231 uc002iqm.2 Hybrid_Cap...
CSMD3 p.G2517_splice 8 113326282 113326282 KMS12BM_HAEMATO... 37 Splice_Site_SNP SNP C A uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CTBP2 p.K974fs 10 126678123 126678123 KMS12BM_HAEMATO... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CYP1B1 2 38297654 38297655 KMS12BM_HAEMATO... 37 3'UTR Ins - A rs9341258 uc002rqo.2 Hybrid_Cap...
DAPK1 p.G445A 9 90263700 90263700 KMS12BM_HAEMATO... 37 Missense_Mutation SNP G C uc004apc.2 DAPK1_uc004ape.... Hybrid_Cap... view
DDR2 1 162750211 162750211 KMS12BM_HAEMATO... 37 3'UTR Del T - uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap...
DDX10 11 108789020 108789020 KMS12BM_HAEMATO... 37 Intron Del T - uc001pkm.2 DDX10_uc001pkl.... Hybrid_Cap...
DGKB 7 14216345 14216346 KMS12BM_HAEMATO... 37 Intron Ins - AGACT uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
DGKB p.N616I 7 14385008 14385008 KMS12BM_HAEMATO... 37 Missense_Mutation SNP T A uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap... view
DLC1 8 12943086 12943086 KMS12BM_HAEMATO... 37 3'UTR Del T - uc003wwm.2 DLC1_uc003wwk.1... Hybrid_Cap...
DNAH8 p.P4475L 6 38998119 38998119 KMS12BM_HAEMATO... 37 Missense_Mutation SNP C T uc003ooe.1 Hybrid_Cap... view
DOCK3 p.R628W 3 51267005 51267005 KMS12BM_HAEMATO... 37 Missense_Mutation SNP C T uc011bds.1 Hybrid_Cap... view
DST p.R1397I 6 56494234 56494234 KMS12BM_HAEMATO... 37 Missense_Mutation SNP C A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
ELK1 X 47500873 47500873 KMS12BM_HAEMATO... 37 5'UTR SNP A G uc004dik.3 ELK1_uc010nhv.2... Hybrid_Cap... view
EPHA3 p.F533L 3 89456423 89456423 KMS12BM_HAEMATO... 37 Missense_Mutation SNP C A uc003dqy.2 EPHA3_uc010hon.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 KMS12BM_HAEMATO... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPS15 1 51822189 51822189 KMS12BM_HAEMATO... 37 3'UTR Del A - uc001csq.1 EPS15_uc009vyz.... Hybrid_Cap...
ERCC4 16 14042331 14042331 KMS12BM_HAEMATO... 37 3'UTR SNP T C uc002dce.2 ERCC4_uc010uyz.... Hybrid_Cap... view
ETV1 7 14028708 14028708 KMS12BM_HAEMATO... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 KMS12BM_HAEMATO... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 KMS12BM_HAEMATO... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FN1 2 216244182 216244185 KMS12BM_HAEMATO... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GRIA3 X 122318386 122318387 KMS12BM_HAEMATO... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIN2A 16 9856952 9856952 KMS12BM_HAEMATO... 37 3'UTR SNP G T uc002czo.3 GRIN2A_uc010uym... Hybrid_Cap... view
HDAC2 6 114262077 114262080 KMS12BM_HAEMATO... 37 3'UTR Del AAAC - rs3217728 uc003pwd.1 HDAC2_uc003pwc.... Hybrid_Cap...
HIF1A 14 62213929 62213930 KMS12BM_HAEMATO... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 KMS12BM_HAEMATO... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 KMS12BM_HAEMATO... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ING1 p.K287Q 13 111371869 111371869 KMS12BM_HAEMATO... 37 Missense_Mutation SNP A C uc001vri.2 ING1_uc001vrf.2... Hybrid_Cap... view
ITPR1 3 4687470 4687471 KMS12BM_HAEMATO... 37 Intron Ins - CT rs33946275 uc003bqa.2 ITPR1_uc010hbz.... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 KMS12BM_HAEMATO... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KDM5A p.R844Q 12 430171 430171 KMS12BM_HAEMATO... 37 Missense_Mutation SNP C T uc001qif.1 KDM5A_uc001qie.... Hybrid_Cap... view
KIAA0802 p.R1180Q 18 8825047 8825047 KMS12BM_HAEMATO... 37 Missense_Mutation SNP G A rs115859324 uc002knr.2 KIAA0802_uc002k... Hybrid_Cap... view
KLK7 19 51480672 51480675 KMS12BM_HAEMATO... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LATS1 p.P237Q 6 150005515 150005515 KMS12BM_HAEMATO... 37 Missense_Mutation SNP G T rs56149740 uc003qmu.1 LATS1_uc010kif.... Hybrid_Cap... view
LATS2 13 21620222 21620223 KMS12BM_HAEMATO... 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LMNA p.R644H 1 156108511 156108511 KMS12BM_HAEMATO... 37 Missense_Mutation SNP G A uc001fni.2 LMNA_uc001fnf.1... Hybrid_Cap... view
LYN p.R25del 8 56854490 56854492 KMS12BM_HAEMATO... 37 In_Frame_Del Del ACG - uc003xsk.3 LYN_uc003xsl.3_... Hybrid_Cap...
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 KMS12BM_HAEMATO... 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 KMS12BM_HAEMATO... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 KMS12BM_HAEMATO... 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP2K5 15 67951229 67951229 KMS12BM_HAEMATO... 37 Intron Del A - uc002aqu.2 MAP2K5_uc002aqt... Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 KMS12BM_HAEMATO... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAST2 p.C930R 1 46496758 46496758 KMS12BM_HAEMATO... 37 Missense_Mutation SNP T C uc001cov.2 MAST2_uc001cow.... Hybrid_Cap... view
MAX 14 65543177 65543177 KMS12BM_HAEMATO... 37 3'UTR SNP G T uc001xif.1 MAX_uc001xic.1_... Hybrid_Cap... view
MCM3APAS 21 47671275 47671276 KMS12BM_HAEMATO... 37 3'UTR Ins - AAT rs67797185 uc002zin.2 MCM3APAS_uc002z... Hybrid_Cap...
MTOR 1 11167419 11167419 KMS12BM_HAEMATO... 37 3'UTR SNP T G uc001asd.2 MTOR_uc001asc.2... Hybrid_Cap... view
NAV3 12 78225085 78225085 KMS12BM_HAEMATO... 37 5'UTR SNP T C uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 KMS12BM_HAEMATO... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 KMS12BM_HAEMATO... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 KMS12BM_HAEMATO... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 KMS12BM_HAEMATO... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NPR1 1 153665919 153665920 KMS12BM_HAEMATO... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 KMS12BM_HAEMATO... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUAK1 p.S488L 12 106461103 106461103 KMS12BM_HAEMATO... 37 Missense_Mutation SNP G A uc001tlj.1 Hybrid_Cap... view
NUP133 1 229644051 229644051 KMS12BM_HAEMATO... 37 5'UTR SNP C T uc001htn.2 Hybrid_Cap... view
NYNRIN p.D689Y 14 24879065 24879065 KMS12BM_HAEMATO... 37 Missense_Mutation SNP G T uc001wpf.3 Hybrid_Cap... view
OMD 9 95177382 95177382 KMS12BM_HAEMATO... 37 3'UTR SNP T A rs77817998 uc004asd.3 CENPP_uc004arz.... Hybrid_Cap... view
PAX3 2 223158653 223158653 KMS12BM_HAEMATO... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAXIP1 7 154775066 154775066 KMS12BM_HAEMATO... 37 Intron SNP C T uc003wlp.2 PAXIP1_uc003wlq... Hybrid_Cap... view
PCM1 p.L1657V 8 17867062 17867062 KMS12BM_HAEMATO... 37 Missense_Mutation SNP C G uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap... view
PDE4DIP 1 144863059 144863059 KMS12BM_HAEMATO... 37 Intron SNP C T rs74579974 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDE4DIP 1 144863860 144863861 KMS12BM_HAEMATO... 37 Intron Ins - T rs33949841 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDGFRA 4 55131002 55131002 KMS12BM_HAEMATO... 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PDK1 2 173460743 173460743 KMS12BM_HAEMATO... 37 3'UTR SNP A G rs70937078 uc002uhq.1 PDK1_uc010zdz.1... Hybrid_Cap... view
PGGT1B 5 114547931 114547931 KMS12BM_HAEMATO... 37 3'UTR SNP C T uc003kqw.3 PGGT1B_uc003kqx... Hybrid_Cap... view
PGR 11 100933598 100933599 KMS12BM_HAEMATO... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2A 11 17111198 17111199 KMS12BM_HAEMATO... 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PKDCC p.E408G 2 42284361 42284361 KMS12BM_HAEMATO... 37 Missense_Mutation SNP A G uc002rsg.2 Hybrid_Cap... view
PLAG1 8 57078551 57078551 KMS12BM_HAEMATO... 37 3'UTR Del A - uc003xsq.3 PLAG1_uc003xsr.... Hybrid_Cap...
PMS1 2 190670539 190670540 KMS12BM_HAEMATO... 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRKAA2 p.D88fs 1 57157093 57157094 KMS12BM_HAEMATO... 37 Frame_Shift_Ins Ins - T uc001cyk.3 Hybrid_Cap...
PRKACB 1 84670439 84670440 KMS12BM_HAEMATO... 37 Intron Ins - C rs67519258 uc001djl.2 PRKACB_uc001djj... Hybrid_Cap...
PRKCH 14 62016672 62016672 KMS12BM_HAEMATO... 37 3'UTR SNP G A uc001xfn.2 PRKCH_uc010tsa.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 KMS12BM_HAEMATO... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RAD51 15 40990955 40990956 KMS12BM_HAEMATO... 37 5'UTR Ins - A rs55714242 uc010bbx.2 RAD51_uc001zmi.... Hybrid_Cap...
RBPJ p.R238* 4 26426291 26426291 KMS12BM_HAEMATO... 37 Nonsense_Mutation SNP C T rs5007634 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap... view
RBPJ 4 26431822 26431822 KMS12BM_HAEMATO... 37 Intron Del A - rs76214390 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap...
RECQL4 p.F1155L 8 145737101 145737101 KMS12BM_HAEMATO... 37 Missense_Mutation SNP G C uc003zdj.2 Hybrid_Cap... view
RGS22 8 101117718 101117718 KMS12BM_HAEMATO... 37 Intron SNP C T uc003yjb.1 RGS22_uc003yja.... Hybrid_Cap... view
ROBO2 3 77666937 77666937 KMS12BM_HAEMATO... 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
RPS6KA5 14 91360733 91360734 KMS12BM_HAEMATO... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
SDHC 1 161332380 161332380 KMS12BM_HAEMATO... 37 3'UTR SNP C A uc001gag.2 SDHC_uc001gai.2... Hybrid_Cap... view
SOX2 3 181431226 181431227 KMS12BM_HAEMATO... 37 3'UTR Ins - A rs80135245 uc003fkx.2 SOX2OT_uc003fkv... Hybrid_Cap...
STK31 7 23872024 23872025 KMS12BM_HAEMATO... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STRADA 17 61781331 61781332 KMS12BM_HAEMATO... 37 Intron Ins - AGAACC rs66701913 uc002jbm.2 STRADA_uc002jbn... Hybrid_Cap...
TAF15 p.GGYGGDRG477del 17 34171684 34171707 KMS12BM_HAEMATO... 37 In_Frame_Del Del GGCGG... - rs113145447 uc002hkd.2 TAF15_uc002hkc.... Hybrid_Cap...
TAOK3 12 118588761 118588762 KMS12BM_HAEMATO... 37 3'UTR Ins - T rs116872184 uc001twx.2 TAOK3_uc001twv.... Hybrid_Cap...
TBK1 p.Y185C 12 64868023 64868023 KMS12BM_HAEMATO... 37 Missense_Mutation SNP A G uc001ssc.1 Hybrid_Cap... view
THBS3 1 155174376 155174377 KMS12BM_HAEMATO... 37 Intron Ins - A uc001fix.2 RAG1AP1_uc010pe... Hybrid_Cap...
TMEM123 11 102269398 102269398 KMS12BM_HAEMATO... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNNI3K 1 75009909 75009909 KMS12BM_HAEMATO... 37 3'UTR SNP A G uc001dge.1 TNNI3K_uc001dgf... Hybrid_Cap... view
TOP2A p.A318P 17 38567908 38567908 KMS12BM_HAEMATO... 37 Missense_Mutation SNP C G uc002huq.2 TOP2A_uc002hur.... Hybrid_Cap... view
TP63 3 189507518 189507519 KMS12BM_HAEMATO... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIP11 p.Q1137R 14 92470910 92470910 KMS12BM_HAEMATO... 37 Missense_Mutation SNP T C uc001xzy.2 TRIP11_uc010auf... Hybrid_Cap... view
TRPM7 p.T403A 15 50920444 50920444 KMS12BM_HAEMATO... 37 Missense_Mutation SNP T C uc001zyt.3 TRPM7_uc010bew.... Hybrid_Cap... view
TRPM8 p.T100T 2 234846105 234846105 KMS12BM_HAEMATO... 37 Silent SNP C T uc002vvh.2 TRPM8_uc010fyj.... Hybrid_Cap... view
TRPS1 8 116635872 116635873 KMS12BM_HAEMATO... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN 2 179391639 179391640 KMS12BM_HAEMATO... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
ULK1 p.G301S 12 132395298 132395298 KMS12BM_HAEMATO... 37 Missense_Mutation SNP G A uc001uje.2 Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 KMS12BM_HAEMATO... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
XPA p.R130_splice 9 100449544 100449544 KMS12BM_HAEMATO... 37 Splice_Site_SNP SNP C G uc004axr.3 XPA_uc004axs.3_... Hybrid_Cap... view