Annotation Summary for Cell Line: SK-LMS-1  

Cell line primary name: SK-LMS-1
Cell line aliases:
Gender: F
Site Primary: soft_tissue
Histology: sarcoma
Hist Subtype1: NS
Notes:
Source: ATCC
Expression arrays: MAKER_p_NCLE_RNA7_HG-U133_Plus_2_G08_454744
SNP arrays: PODIA_p_NCLE_DNAAffy7_GenomeWideSNP_6_B06_437534
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SK-LMS-1

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 SKLMS1_SOFT_TIS... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACACA 17 35766564 35766564 SKLMS1_SOFT_TIS... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM17 2 9630245 9630245 SKLMS1_SOFT_TIS... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 SKLMS1_SOFT_TIS... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 SKLMS1_SOFT_TIS... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 SKLMS1_SOFT_TIS... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347609 113347610 SKLMS1_SOFT_TIS... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 SKLMS1_SOFT_TIS... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ASPH 8 62538655 62538655 SKLMS1_SOFT_TIS... 37 Intron SNP A G uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap... view
ATP10A p.I813S 15 25953354 25953354 SKLMS1_SOFT_TIS... 37 Missense_Mutation SNP A C uc010ayu.2 Hybrid_Cap... view
BCL2L1 p.S43L 20 30309894 30309894 SKLMS1_SOFT_TIS... 37 Missense_Mutation SNP G A uc002wwl.2 BCL2L1_uc002wwk... Hybrid_Cap... view
BCR 22 23631813 23631814 SKLMS1_SOFT_TIS... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BIRC6 p.L984R 2 32654292 32654292 SKLMS1_SOFT_TIS... 37 Missense_Mutation SNP T G uc010ezu.2 Hybrid_Cap... view
C17ORF37 17 37885640 37885641 SKLMS1_SOFT_TIS... 37 3'UTR Ins - G rs75811535 uc002hsq.2 Hybrid_Cap...
CABC1 1 227171727 227171727 SKLMS1_SOFT_TIS... 37 Intron SNP G T uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap... view
CD44 11 35160622 35160622 SKLMS1_SOFT_TIS... 37 5'UTR SNP C G uc001mvu.2 CD44_uc001mvv.2... Hybrid_Cap... view
CDK3 p.E200K 17 73998619 73998619 SKLMS1_SOFT_TIS... 37 Missense_Mutation SNP G A uc002jqg.3 CDK3_uc010dgt.2... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 SKLMS1_SOFT_TIS... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 SKLMS1_SOFT_TIS... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
DNAH8 6 38952247 38952250 SKLMS1_SOFT_TIS... 37 Intron Del CACA - uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap...
EDN1 6 12290729 12290729 SKLMS1_SOFT_TIS... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EPHA6 3 97367230 97367231 SKLMS1_SOFT_TIS... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA6 3 97467610 97467611 SKLMS1_SOFT_TIS... 37 3'UTR Ins - CT uc010how.1 Hybrid_Cap...
ERN1 p.R262C 17 62144089 62144089 SKLMS1_SOFT_TIS... 37 Missense_Mutation SNP G A uc002jdz.2 Hybrid_Cap... view
ETV1 7 14028708 14028708 SKLMS1_SOFT_TIS... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
F12 5 176830741 176830741 SKLMS1_SOFT_TIS... 37 Intron SNP G A rs41309760 uc003mgo.3 F12_uc011dfy.1_... Hybrid_Cap... view
FBN2 5 127595046 127595048 SKLMS1_SOFT_TIS... 37 3'UTR Del TTA - uc003kuu.2 Hybrid_Cap...
FGFR3 4 1809128 1809129 SKLMS1_SOFT_TIS... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLNC p.N182K 7 128475573 128475573 SKLMS1_SOFT_TIS... 37 Missense_Mutation SNP C A uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FLT4 5 180035183 180035185 SKLMS1_SOFT_TIS... 37 Intron Del AGT - uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap...
FLT4 p.V763M 5 180047888 180047888 SKLMS1_SOFT_TIS... 37 Missense_Mutation SNP C T uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap... view
FN1 2 216244182 216244185 SKLMS1_SOFT_TIS... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GCK 7 44184604 44184605 SKLMS1_SOFT_TIS... 37 3'UTR Ins - G uc003tkk.1 GCK_uc003tkh.1_... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 SKLMS1_SOFT_TIS... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 SKLMS1_SOFT_TIS... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 SKLMS1_SOFT_TIS... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
ILK 11 6630029 6630029 SKLMS1_SOFT_TIS... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 SKLMS1_SOFT_TIS... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
LZTR1 22 21351479 21351479 SKLMS1_SOFT_TIS... 37 Intron SNP G A uc002zto.2 LZTR1_uc002ztn.... Hybrid_Cap... view
MAF 16 79628580 79628580 SKLMS1_SOFT_TIS... 37 Intron SNP C G uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap... view
MAMDC4 p.N732T 9 139751907 139751907 SKLMS1_SOFT_TIS... 37 Missense_Mutation SNP A C uc004cjs.2 MAMDC4_uc011mej... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 SKLMS1_SOFT_TIS... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 SKLMS1_SOFT_TIS... 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 SKLMS1_SOFT_TIS... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K10 p.S400R 19 40711829 40711829 SKLMS1_SOFT_TIS... 37 Missense_Mutation SNP C A uc002ona.2 MAP3K10_uc002on... Hybrid_Cap... view
MAPK3 16 30133335 30133335 SKLMS1_SOFT_TIS... 37 Intron SNP G A uc002dws.2 BOLA2_uc010bzb.... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 SKLMS1_SOFT_TIS... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAPKBP1 15 42111746 42111746 SKLMS1_SOFT_TIS... 37 Intron Del G - uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MSH3 p.AAA58del 5 79950709 79950717 SKLMS1_SOFT_TIS... 37 In_Frame_Del Del GCAGC... - rs67658031;rs2431220 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MYO3B p.V848I 2 171264246 171264246 SKLMS1_SOFT_TIS... 37 Missense_Mutation SNP G A uc002ufy.2 MYO3B_uc002ufv.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 SKLMS1_SOFT_TIS... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SKLMS1_SOFT_TIS... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.QQQ1272del 20 46279815 46279823 SKLMS1_SOFT_TIS... 37 In_Frame_Del Del GCAGC... - uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 SKLMS1_SOFT_TIS... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NF1 p.F1275fs 17 29562745 29562745 SKLMS1_SOFT_TIS... 37 Frame_Shift_Del Del C - uc002hgg.2 NF1_uc002hgh.2_... Hybrid_Cap...
NF1 p.S1954L 17 29661904 29661904 SKLMS1_SOFT_TIS... 37 Missense_Mutation SNP C T uc002hgg.2 NF1_uc002hgh.2_... Hybrid_Cap... view
NF1 p.T1972I 17 29661958 29661958 SKLMS1_SOFT_TIS... 37 Missense_Mutation SNP C T uc002hgg.2 NF1_uc002hgh.2_... Hybrid_Cap... view
NFIA 1 61921185 61921186 SKLMS1_SOFT_TIS... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NLRP3 1 247611982 247611982 SKLMS1_SOFT_TIS... 37 3'UTR Del C - uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap...
NPM1 5 170837734 170837734 SKLMS1_SOFT_TIS... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 SKLMS1_SOFT_TIS... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAX3 2 223158653 223158653 SKLMS1_SOFT_TIS... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.Q1665fs 1 144873963 144873963 SKLMS1_SOFT_TIS... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 SKLMS1_SOFT_TIS... 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PLK2 p.M468T 5 57751588 57751588 SKLMS1_SOFT_TIS... 37 Missense_Mutation SNP A G uc003jrn.2 Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 SKLMS1_SOFT_TIS... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKG1 10 52751071 52751079 SKLMS1_SOFT_TIS... 37 5'UTR Del GCCGC... - uc001jjm.2 PRKG1_uc010qhp.... Hybrid_Cap...
RASGRF1 15 79277150 79277151 SKLMS1_SOFT_TIS... 37 Intron Ins - C rs67045840;rs77640668 uc002beq.2 RASGRF1_uc002be... Hybrid_Cap...
RBPJ p.R238* 4 26426291 26426291 SKLMS1_SOFT_TIS... 37 Nonsense_Mutation SNP C T rs5007634 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 SKLMS1_SOFT_TIS... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
ROBO2 3 77666933 77666933 SKLMS1_SOFT_TIS... 37 Intron SNP C G uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap... view
SGK196 8 42978201 42978201 SKLMS1_SOFT_TIS... 37 3'UTR Del T - uc003xpw.2 Hybrid_Cap...
SORL1 p.D794E 11 121424761 121424761 SKLMS1_SOFT_TIS... 37 Missense_Mutation SNP C G uc001pxx.2 Hybrid_Cap... view
STK25 2 242435659 242435662 SKLMS1_SOFT_TIS... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STRADA 17 61781331 61781332 SKLMS1_SOFT_TIS... 37 Intron Ins - AGAACC rs66701913 uc002jbm.2 STRADA_uc002jbn... Hybrid_Cap...
TAOK3 12 118627799 118627799 SKLMS1_SOFT_TIS... 37 Intron SNP C T uc001twx.2 TAOK3_uc001twv.... Hybrid_Cap... view
TEC 4 48139307 48139310 SKLMS1_SOFT_TIS... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TGFB2 1 218519928 218519929 SKLMS1_SOFT_TIS... 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
THBS3 p.G34G 1 155176175 155176175 SKLMS1_SOFT_TIS... 37 Silent SNP G A uc001fix.2 RAG1AP1_uc010pe... Hybrid_Cap... view
TMEM123 11 102269398 102269398 SKLMS1_SOFT_TIS... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TMEM123 11 102269461 102269461 SKLMS1_SOFT_TIS... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TP53 p.G245S 17 7577548 7577548 SKLMS1_SOFT_TIS... 37 Missense_Mutation SNP C T rs28934575 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP53 p.M237K 17 7577571 7577571 SKLMS1_SOFT_TIS... 37 Missense_Mutation SNP A T uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TRIM33 1 114940215 114940216 SKLMS1_SOFT_TIS... 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TSC2 16 2138671 2138672 SKLMS1_SOFT_TIS... 37 3'UTR Del AA - uc002con.2 TSC2_uc010bsd.2... Hybrid_Cap...
TTBK1 p.E771del 6 43250726 43250728 SKLMS1_SOFT_TIS... 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN 2 179391639 179391640 SKLMS1_SOFT_TIS... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 SKLMS1_SOFT_TIS... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...