Annotation Summary for Cell Line: OUMS-23  

Cell line primary name: OUMS-23
Cell line aliases:
Gender:
Site Primary: large_intestine
Histology: carcinoma
Hist Subtype1: adenocarcinoma
Notes:
Source: HSRRB
Expression arrays: AGENT_p_NCLE_RNA6_HG-U133_Plus_2_C09_436520
SNP arrays: PODIA_p_NCLE_DNAAffy7_GenomeWideSNP_6_F03_437448
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in OUMS-23

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 OUMS23_LARGE_IN... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM28 8 24211994 24211997 OUMS23_LARGE_IN... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AIM1 p.F1507S 6 107006389 107006389 OUMS23_LARGE_IN... 37 Missense_Mutation SNP T C uc003prh.2 AIM1_uc003pri.2... Hybrid_Cap... view
AKAP4 p.E585* X 49957611 49957611 OUMS23_LARGE_IN... 37 Nonsense_Mutation SNP C A uc004dow.1 AKAP4_uc004dov.... Hybrid_Cap... view
AKAP9 p.1335_1336insQ 7 91652178 91652179 OUMS23_LARGE_IN... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347609 113347610 OUMS23_LARGE_IN... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.V772L 18 56205105 56205105 OUMS23_LARGE_IN... 37 Missense_Mutation SNP C A uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap... view
ALS2 2 202587706 202587707 OUMS23_LARGE_IN... 37 Intron Ins - A rs3219165 uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap...
APC p.R657fs 5 112173260 112173261 OUMS23_LARGE_IN... 37 Frame_Shift_Del Del AG - uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap...
APC p.E1554fs 5 112175951 112175952 OUMS23_LARGE_IN... 37 Frame_Shift_Ins Ins - A uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap...
ASPH p.K350R 8 62496516 62496516 OUMS23_LARGE_IN... 37 Missense_Mutation SNP T C uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 OUMS23_LARGE_IN... 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
ATM p.S1383L 11 108159742 108159742 OUMS23_LARGE_IN... 37 Missense_Mutation SNP C T uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
ATP13A5 p.D303Y 3 193061752 193061752 OUMS23_LARGE_IN... 37 Missense_Mutation SNP C A uc011bsq.1 Hybrid_Cap... view
AURKC 19 57742494 57742507 OUMS23_LARGE_IN... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BIRC6 p.T2365M 2 32703728 32703728 OUMS23_LARGE_IN... 37 Missense_Mutation SNP C T uc010ezu.2 Hybrid_Cap... view
BRAF p.V600E 7 140453136 140453136 OUMS23_LARGE_IN... 37 Missense_Mutation SNP A T rs113488022 uc003vwc.3 Hybrid_Cap... view
BRAF p.D287_splice 7 140500282 140500282 OUMS23_LARGE_IN... 37 Splice_Site_SNP SNP C T uc003vwc.3 Hybrid_Cap... view
BRIP1 p.G481D 17 59870989 59870989 OUMS23_LARGE_IN... 37 Missense_Mutation SNP C T uc002izk.1 Hybrid_Cap... view
BTG1 12 92537706 92537707 OUMS23_LARGE_IN... 37 3'UTR Ins - T rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
C6ORF97 p.R654K 6 151939095 151939096 OUMS23_LARGE_IN... 37 Missense_Mutation DNP GG AA uc003qol.2 Hybrid_Cap...
CDH11 p.W453R 16 65006840 65006840 OUMS23_LARGE_IN... 37 Missense_Mutation SNP A G uc002eoi.2 CDH11_uc010cdn.... Hybrid_Cap... view
CDH2 p.G513S 18 25570122 25570122 OUMS23_LARGE_IN... 37 Missense_Mutation SNP C T uc002kwg.2 CDH2_uc010xbn.1... Hybrid_Cap... view
CDK12 p.S148L 17 37618767 37618767 OUMS23_LARGE_IN... 37 Missense_Mutation SNP C T uc010cvv.2 CDK12_uc010wef.... Hybrid_Cap... view
CDK18 p.R19H 1 205492351 205492351 OUMS23_LARGE_IN... 37 Missense_Mutation SNP G A rs114042314 uc001hcr.2 CDK18_uc009xbk.... Hybrid_Cap... view
CDKL5 p.R617H X 18622894 18622894 OUMS23_LARGE_IN... 37 Missense_Mutation SNP G A uc004cym.2 CDKL5_uc004cyn.... Hybrid_Cap... view
CHD5 p.P95L 1 6219499 6219499 OUMS23_LARGE_IN... 37 Missense_Mutation SNP G A uc001amb.1 Hybrid_Cap... view
CLK4 p.T461T 5 178030681 178030681 OUMS23_LARGE_IN... 37 Silent SNP A G uc003mjf.1 CLK4_uc003mjg.1... Hybrid_Cap... view
CLTC p.M1142V 17 57759170 57759170 OUMS23_LARGE_IN... 37 Missense_Mutation SNP A G uc002ixr.1 CLTC_uc002ixp.2... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 OUMS23_LARGE_IN... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CTNNA2 p.K74T 2 79971631 79971631 OUMS23_LARGE_IN... 37 Missense_Mutation SNP A C uc010ysh.1 CTNNA2_uc010yse... Hybrid_Cap... view
CUBN p.R651G 10 17127755 17127755 OUMS23_LARGE_IN... 37 Missense_Mutation SNP G C rs117275869 uc001ioo.2 Hybrid_Cap... view
CXCL12 10 44873992 44873993 OUMS23_LARGE_IN... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DACH1 13 72014625 72014626 OUMS23_LARGE_IN... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DFNA5 p.N152K 7 24758786 24758786 OUMS23_LARGE_IN... 37 Missense_Mutation SNP A C uc010kus.1 DFNA5_uc003swz.... Hybrid_Cap... view
DGKB 7 14216345 14216346 OUMS23_LARGE_IN... 37 Intron Ins - AGACT uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
DSTYK p.Y840F 1 205117416 205117416 OUMS23_LARGE_IN... 37 Missense_Mutation SNP T A uc001hbw.2 DSTYK_uc001hbx.... Hybrid_Cap... view
DYRK1A 21 38884966 38884967 OUMS23_LARGE_IN... 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EPHA6 3 96963135 96963135 OUMS23_LARGE_IN... 37 Intron SNP A G uc010how.1 EPHA6_uc003drp.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 OUMS23_LARGE_IN... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 OUMS23_LARGE_IN... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLT4 p.P363fs 5 180055897 180055897 OUMS23_LARGE_IN... 37 Frame_Shift_Del Del G - uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap...
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 OUMS23_LARGE_IN... 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 OUMS23_LARGE_IN... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXP1 3 71008341 71008342 OUMS23_LARGE_IN... 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 OUMS23_LARGE_IN... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 OUMS23_LARGE_IN... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 OUMS23_LARGE_IN... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HERC2 p.E446D 15 28514502 28514502 OUMS23_LARGE_IN... 37 Missense_Mutation SNP T A uc001zbj.2 HERC2_uc001zbl.... Hybrid_Cap... view
HIF1A 14 62213929 62213930 OUMS23_LARGE_IN... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
IL1B p.D40N 2 113591134 113591134 OUMS23_LARGE_IN... 37 Missense_Mutation SNP C T uc002tii.1 IL1B_uc002tih.1... Hybrid_Cap... view
ILK 11 6630029 6630029 OUMS23_LARGE_IN... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGB1 10 33197131 33197134 OUMS23_LARGE_IN... 37 Intron Del CTTT - rs116966876 uc001iwq.3 ITGB1_uc001iwp.... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 OUMS23_LARGE_IN... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KIAA1409 p.F2132Y 14 94148964 94148964 OUMS23_LARGE_IN... 37 Missense_Mutation SNP T A uc001ybv.1 KIAA1409_uc001y... Hybrid_Cap... view
KLK7 19 51480672 51480675 OUMS23_LARGE_IN... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LATS2 13 21620222 21620223 OUMS23_LARGE_IN... 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LETM2 p.R316* 8 38260145 38260145 OUMS23_LARGE_IN... 37 Nonsense_Mutation SNP C T uc003xlm.1 LETM2_uc011lbn.... Hybrid_Cap... view
LRP1B p.Y716C 2 141773308 141773308 OUMS23_LARGE_IN... 37 Missense_Mutation SNP T C uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 OUMS23_LARGE_IN... 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 OUMS23_LARGE_IN... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 OUMS23_LARGE_IN... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 OUMS23_LARGE_IN... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K4 p.A1199del 6 161519351 161519353 OUMS23_LARGE_IN... 37 In_Frame_Del Del CTG - uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap...
MAP3K8 p.H385Y 10 30748310 30748310 OUMS23_LARGE_IN... 37 Missense_Mutation SNP C T rs77316331 uc001ivi.1 MAP3K8_uc009xlf... Hybrid_Cap... view
MLL3 p.Y816fs 7 151945071 151945072 OUMS23_LARGE_IN... 37 Frame_Shift_Ins Ins - T uc003wla.2 Hybrid_Cap...
MSH6 p.P1082L 2 48030631 48030631 OUMS23_LARGE_IN... 37 Missense_Mutation SNP C T uc002rwd.3 MSH6_uc010fbj.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 OUMS23_LARGE_IN... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 OUMS23_LARGE_IN... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 113075136 113075136 OUMS23_LARGE_IN... 37 5'UTR SNP G A uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap... view
NCOA3 p.Q1276del 20 46279837 46279839 OUMS23_LARGE_IN... 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NFIA p.P199L 1 61554254 61554254 OUMS23_LARGE_IN... 37 Missense_Mutation SNP C T uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap... view
NFIA 1 61869770 61869770 OUMS23_LARGE_IN... 37 Intron SNP C T uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap... view
NFIA 1 61921034 61921034 OUMS23_LARGE_IN... 37 3'UTR SNP C T rs114023473 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap... view
NFIA 1 61921185 61921186 OUMS23_LARGE_IN... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NFKBIA 14 35871136 35871138 OUMS23_LARGE_IN... 37 3'UTR Del TTC - rs112369437 uc001wtf.3 NFKBIA_uc001wte... Hybrid_Cap...
NOTCH4 p.15_16LL>L 6 32191659 32191661 OUMS23_LARGE_IN... 37 In_Frame_Del Del AGC - uc003obb.2 NOTCH4_uc011dpu... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 OUMS23_LARGE_IN... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAX3 2 223066017 223066018 OUMS23_LARGE_IN... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 OUMS23_LARGE_IN... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.E243fs 1 144923729 144923729 OUMS23_LARGE_IN... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 OUMS23_LARGE_IN... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3C2G 12 18800990 18800990 OUMS23_LARGE_IN... 37 3'UTR Del A - rs16914368 uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PKN3 p.R431H 9 131476380 131476380 OUMS23_LARGE_IN... 37 Missense_Mutation SNP G A uc004bvw.2 PKN3_uc010myh.2... Hybrid_Cap... view
PML 15 74326715 74326715 OUMS23_LARGE_IN... 37 Intron Del C - uc002awv.2 PML_uc002awm.2_... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 OUMS23_LARGE_IN... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RBBP8 p.N652I 18 20576352 20576352 OUMS23_LARGE_IN... 37 Missense_Mutation SNP A T uc002kua.2 RBBP8_uc002ktw.... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 OUMS23_LARGE_IN... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RGL2 6 33261766 33261766 OUMS23_LARGE_IN... 37 Intron SNP A C uc003odv.2 RGL2_uc003odu.2... Hybrid_Cap... view
RPS6KA2 p.L558V 6 166836890 166836890 OUMS23_LARGE_IN... 37 Missense_Mutation SNP G C uc003qvd.1 RPS6KA2_uc011eg... Hybrid_Cap... view
STK25 2 242435659 242435662 OUMS23_LARGE_IN... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 OUMS23_LARGE_IN... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TEC 4 48139307 48139310 OUMS23_LARGE_IN... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TESK1 9 35609751 35609751 OUMS23_LARGE_IN... 37 3'UTR SNP G T uc003zxa.2 TESK1_uc003zwz.... Hybrid_Cap... view
TFDP1 p.V271F 13 114290415 114290415 OUMS23_LARGE_IN... 37 Missense_Mutation SNP G T uc001vtw.2 TFDP1_uc010tkd.... Hybrid_Cap... view
TGFB3 p.V398L 14 76425577 76425577 OUMS23_LARGE_IN... 37 Missense_Mutation SNP C A uc001xsc.2 Hybrid_Cap... view
TLK1 2 171850178 171850179 OUMS23_LARGE_IN... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TNNI3K p.H442Y 1 74819038 74819038 OUMS23_LARGE_IN... 37 Missense_Mutation SNP C T uc001dge.1 TNNI3K_uc001dgc... Hybrid_Cap... view
TP53 p.Y234C 17 7577580 7577580 OUMS23_LARGE_IN... 37 Missense_Mutation SNP T C uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 OUMS23_LARGE_IN... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRPS1 8 116635872 116635873 OUMS23_LARGE_IN... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN 2 179391639 179391640 OUMS23_LARGE_IN... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
VDR 12 48272680 48272680 OUMS23_LARGE_IN... 37 Intron SNP C T uc001rql.2 VDR_uc001rqm.2_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 OUMS23_LARGE_IN... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...