Annotation Summary for Cell Line: CL-40  

Cell line primary name: CL-40
Cell line aliases:
Gender: F
Site Primary: large_intestine
Histology: carcinoma
Hist Subtype1: NS
Notes:
Source: DSMZ
Expression arrays: SILOS_p_NCLE_RNA9_HG-U133_Plus_2_D07_523580
SNP arrays: VAULT_p_NCLE_DNAAffy14_GenomeWideSNP_6_G12_698668
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in CL-40

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ABCA3 2 9630245 9630245 CL40_LARGE_INTE... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ABL2 p.S159N 1 179095723 179095723 CL40_LARGE_INTE... 37 Missense_Mutation SNP C T uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap... view
ABL2 8 24211994 24211997 CL40_LARGE_INTE... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ACSL6 p.K644N 22 26118282 26118282 CL40_LARGE_INTE... 37 Missense_Mutation SNP G T uc003abx.3 ADRBK2_uc003aby... Hybrid_Cap... view
ACVR2A p.EDTST1006del 18 56204388 56204402 CL40_LARGE_INTE... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ADAM17 p.R876* 5 112173917 112173917 CL40_LARGE_INTE... 37 Nonsense_Mutation SNP C T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
ADAM22 p.S1465fs 5 112175686 112175686 CL40_LARGE_INTE... 37 Frame_Shift_Del Del T - uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap...
ADAM28 p.Q613_splice 5 142513671 142513671 CL40_LARGE_INTE... 37 Splice_Site_SNP SNP G A uc011dbj.1 ARHGAP26_uc003l... Hybrid_Cap... view
ADAMTS2 p.D933_splice 1 94643278 94643278 CL40_LARGE_INTE... 37 Splice_Site_SNP SNP T C uc001dqj.3 ARHGAP29_uc009w... Hybrid_Cap... view
ADAMTS20 p.C116Y 2 203332341 203332341 CL40_LARGE_INTE... 37 Missense_Mutation SNP G A uc002uzf.3 BMPR2_uc010ftr.... Hybrid_Cap... view
ADRBK2 10 18828721 18828722 CL40_LARGE_INTE... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
AFF4 p.P1684del 5 98192165 98192167 CL40_LARGE_INTE... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
AKAP12 p.V1201_splice 22 19189003 19189004 CL40_LARGE_INTE... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
AKAP9 3 1339681 1339686 CL40_LARGE_INTE... 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
ALPK2 p.V3581L 8 113243861 113243861 CL40_LARGE_INTE... 37 Missense_Mutation SNP C G uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
APAF1 p.R545H 20 31386409 31386409 CL40_LARGE_INTE... 37 Missense_Mutation SNP G A uc002wyc.2 DNMT3B_uc010ztx... Hybrid_Cap... view
APC p.L359R 2 42513473 42513473 CL40_LARGE_INTE... 37 Missense_Mutation SNP T G uc002rsi.2 EML4_uc010fap.2... Hybrid_Cap... view
APC p.R162W 1 205156716 205156716 CL40_LARGE_INTE... 37 Missense_Mutation SNP G A uc001hbw.2 DSTYK_uc001hbx.... Hybrid_Cap... view
APC 3 97367230 97367231 CL40_LARGE_INTE... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ARAF 7 14028708 14028708 CL40_LARGE_INTE... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
ARFGEF1 p.R857* X 63410598 63410598 CL40_LARGE_INTE... 37 Nonsense_Mutation SNP G A uc004dvo.2 Hybrid_Cap... view
ARHGAP29 6 167453519 167453520 CL40_LARGE_INTE... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
ARHGEF10 p.A60V 17 17131273 17131273 CL40_LARGE_INTE... 37 Missense_Mutation SNP G A uc002gra.3 PLD6_uc010cpn.2... Hybrid_Cap... view
ARHGEF7 p.R387* 16 31201450 31201450 CL40_LARGE_INTE... 37 Nonsense_Mutation SNP C T rs61733965 uc002ebi.2 FUS_uc002ebf.2_... Hybrid_Cap... view
ARHGEF7 p.G168fs 1 240255911 240255912 CL40_LARGE_INTE... 37 Frame_Shift_Del Del GG - uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
ATM X 122318386 122318387 CL40_LARGE_INTE... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
ATP11A 12 14827464 14827466 CL40_LARGE_INTE... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
ATP8B1 p.R2554Q 15 28446657 28446657 CL40_LARGE_INTE... 37 Missense_Mutation SNP C T uc001zbj.2 HERC2_uc001zbk.... Hybrid_Cap... view
ATRX p.R75Q 12 66232324 66232324 CL40_LARGE_INTE... 37 Missense_Mutation SNP G A uc001ssu.1 HMGA2_uc001ssw.... Hybrid_Cap... view
AURKC 11 6630029 6630029 CL40_LARGE_INTE... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
BAT3 p.G12D 12 25398284 25398284 CL40_LARGE_INTE... 37 Missense_Mutation SNP C T uc001rgp.1 KRAS_uc001rgq.1... Hybrid_Cap... view
BCL3 p.R744* 6 150001374 150001374 CL40_LARGE_INTE... 37 Nonsense_Mutation SNP G A uc003qmu.1 LATS1_uc010kif.... Hybrid_Cap... view
BMP2K p.G24G 19 11210903 11210903 CL40_LARGE_INTE... 37 Silent SNP C A uc002mqk.3 LDLR_uc010xlk.1... Hybrid_Cap... view
BMPR2 p.R528C 7 133884008 133884008 CL40_LARGE_INTE... 37 Missense_Mutation SNP C T uc003vrm.1 Hybrid_Cap... view
BRAF p.G27R 6 10830803 10830803 CL40_LARGE_INTE... 37 Missense_Mutation SNP C T uc003mzl.2 SYCP2L_uc011dim... Hybrid_Cap... view
BRD2 p.Q767_splice 4 140651585 140651587 CL40_LARGE_INTE... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
C15ORF2 p.N379del 19 7977066 7977068 CL40_LARGE_INTE... 37 In_Frame_Del Del ATA - uc002miv.2 MAP2K7_uc010xka... Hybrid_Cap...
C15ORF55 p.T949del 5 56177849 56177851 CL40_LARGE_INTE... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
CABC1 p.R218_splice 17 43364293 43364294 CL40_LARGE_INTE... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
CABC1 p.L16* 3 185146416 185146416 CL40_LARGE_INTE... 37 Nonsense_Mutation SNP T A uc010hyf.2 MAP3K13_uc011br... Hybrid_Cap... view
CACNA1F p.Y816fs 7 151945071 151945072 CL40_LARGE_INTE... 37 Frame_Shift_Ins Ins - T uc003wla.2 Hybrid_Cap...
CARD10 9 20346377 20346378 CL40_LARGE_INTE... 37 3'UTR Ins - A rs66943046 uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap...
CARD11 p.F810fs 22 28194102 28194103 CL40_LARGE_INTE... 37 Frame_Shift_Del Del GA - uc003adj.2 Hybrid_Cap...
CASP2 p.D2366N 12 78604235 78604235 CL40_LARGE_INTE... 37 Missense_Mutation SNP G A uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap... view
CCDC50 11 112832307 112832308 CL40_LARGE_INTE... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
CCR6 11 112832340 112832340 CL40_LARGE_INTE... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
CDC25C p.I1210M 8 71040719 71040719 CL40_LARGE_INTE... 37 Missense_Mutation SNP G C uc003xyn.1 NCOA2_uc011lfb.... Hybrid_Cap... view
CDH2 p.K313_splice 13 52718050 52718051 CL40_LARGE_INTE... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
CDK18 1 61921185 61921186 CL40_LARGE_INTE... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
CDK18 1 153665919 153665920 CL40_LARGE_INTE... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
CDKN2A p.176_177insQ 19 50881820 50881821 CL40_LARGE_INTE... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 CL40_LARGE_INTE... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUMA1 p.L1315V 11 71724606 71724606 CL40_LARGE_INTE... 37 Missense_Mutation SNP G C uc001orl.1 NUMA1_uc009ysw.... Hybrid_Cap... view
PDCD11 p.Q627R 10 105177658 105177658 CL40_LARGE_INTE... 37 Missense_Mutation SNP A G uc001kwy.1 Hybrid_Cap... view
PDK4 p.A66V 7 95224410 95224410 CL40_LARGE_INTE... 37 Missense_Mutation SNP G A uc003uoa.2 PDK4_uc003unz.2... Hybrid_Cap... view
PIK3CA p.E110del 3 178916938 178916940 CL40_LARGE_INTE... 37 In_Frame_Del Del GAA - uc003fjk.2 Hybrid_Cap...
PMS1 2 190670539 190670540 CL40_LARGE_INTE... 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRDM16 p.H1040N 1 3342623 3342623 CL40_LARGE_INTE... 37 Missense_Mutation SNP C A uc001akf.2 PRDM16_uc001akc... Hybrid_Cap... view
PREX2 8 69143713 69143714 CL40_LARGE_INTE... 37 3'UTR Del TT - uc003xxv.1 Hybrid_Cap...
RARB p.V240M 3 25622124 25622124 CL40_LARGE_INTE... 37 Missense_Mutation SNP G A uc011awl.1 RARB_uc003cdi.1... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 CL40_LARGE_INTE... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RIMS2 p.L32P 8 104513209 104513209 CL40_LARGE_INTE... 37 Missense_Mutation SNP T C uc003ylp.2 Hybrid_Cap... view
ROBO2 p.A1366E 3 77684162 77684162 CL40_LARGE_INTE... 37 Missense_Mutation SNP C A uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap... view
SPEG p.C1790S 2 220345419 220345419 CL40_LARGE_INTE... 37 Missense_Mutation SNP G C uc010fwg.2 Hybrid_Cap... view
STK31 7 23872024 23872025 CL40_LARGE_INTE... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TCF21 6 134210497 134210498 CL40_LARGE_INTE... 37 5'UTR Ins - TCTC rs35199378 uc003qei.3 TCF21_uc003qej.... Hybrid_Cap...
TGFB2 1 218578685 218578686 CL40_LARGE_INTE... 37 Intron Ins - TTGTTG rs35511163 uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TP53 p.R248Q 17 7577538 7577538 CL40_LARGE_INTE... 37 Missense_Mutation SNP C T rs11540652 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 CL40_LARGE_INTE... 37 Intron Ins - AG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIM33 1 114940211 114940212 CL40_LARGE_INTE... 37 3'UTR Ins - T rs66490349 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRPM8 p.I169I 2 234847800 234847800 CL40_LARGE_INTE... 37 Silent SNP C T uc002vvh.2 TRPM8_uc010fyj.... Hybrid_Cap... view
TRPS1 8 116635872 116635873 CL40_LARGE_INTE... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN 2 179391639 179391640 CL40_LARGE_INTE... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.P26114Q 2 179424814 179424814 CL40_LARGE_INTE... 37 Missense_Mutation SNP G T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.R19147W 2 179449135 179449135 CL40_LARGE_INTE... 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 CL40_LARGE_INTE... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZAP70 p.E567K 2 98354533 98354533 CL40_LARGE_INTE... 37 Missense_Mutation SNP G A uc002syd.1 ZAP70_uc002sye.... Hybrid_Cap... view
ZFYVE9 p.P1398L 1 52811808 52811808 CL40_LARGE_INTE... 37 Missense_Mutation SNP C T uc001cto.2 ZFYVE9_uc001ctp... Hybrid_Cap... view