Annotation Summary for Cell Line: SW1116  

Cell line primary name: SW1116
Cell line aliases:
Gender: M
Site Primary: large_intestine
Histology: carcinoma
Hist Subtype1: adenocarcinoma
Notes:
Source: ATCC
Expression arrays: AGENT_p_NCLE_RNA6_HG-U133_Plus_2_A02_436580
SNP arrays: CHARY_p_NCLE_DNAAffy9_GenomeWideSNP_6_H09_490462
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SW1116

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ADAM28 8 24212024 24212024 SW1116_LARGE_IN... 37 3'UTR SNP T A uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap... view
ADAMTS20 p.S68F 12 43944962 43944962 SW1116_LARGE_IN... 37 Missense_Mutation SNP G A uc010skx.1 Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 SW1116_LARGE_IN... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALS2 p.Q1355* 2 202575773 202575773 SW1116_LARGE_IN... 37 Nonsense_Mutation SNP G A uc002uyo.2 ALS2_uc010ftl.2... Hybrid_Cap... view
ANAPC5 12 121790193 121790195 SW1116_LARGE_IN... 37 5'UTR Del CAC - uc001uag.2 ANAPC5_uc001uah... Hybrid_Cap...
APC p.Q264* 5 112137036 112137036 SW1116_LARGE_IN... 37 Nonsense_Mutation SNP C T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC p.Q1429fs 5 112175576 112175585 SW1116_LARGE_IN... 37 Frame_Shift_Del Del CAAAC... - rs74535574 uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap...
ATR 3 142297637 142297637 SW1116_LARGE_IN... 37 5'UTR SNP G C uc003eux.3 Hybrid_Cap... view
BCR 22 23631813 23631814 SW1116_LARGE_IN... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BCR 22 23632777 23632778 SW1116_LARGE_IN... 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BNIP3 p.F194C 10 133782032 133782032 SW1116_LARGE_IN... 37 Missense_Mutation SNP A C uc001lkv.1 BNIP3_uc001lku.... Hybrid_Cap... view
CARD10 p.KE272del 22 37906309 37906314 SW1116_LARGE_IN... 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CATSPERB p.I450N 14 92126264 92126264 SW1116_LARGE_IN... 37 Missense_Mutation SNP A T uc001xzs.1 CATSPERB_uc010a... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 SW1116_LARGE_IN... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 SW1116_LARGE_IN... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 22 19196673 19196674 SW1116_LARGE_IN... 37 Intron Ins - A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN5 p.K1069E 11 100226853 100226853 SW1116_LARGE_IN... 37 Missense_Mutation SNP A G uc001pga.2 CNTN5_uc001pgb.... Hybrid_Cap... view
CNTN6 3 1339681 1339686 SW1116_LARGE_IN... 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CREB1 p.L234V 2 208440148 208440148 SW1116_LARGE_IN... 37 Missense_Mutation SNP T G uc002vcc.2 CREB1_uc010ziz.... Hybrid_Cap... view
CTBP2 p.K974fs 10 126678123 126678123 SW1116_LARGE_IN... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
DACH1 13 72014625 72014626 SW1116_LARGE_IN... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DBN1 5 176899293 176899293 SW1116_LARGE_IN... 37 5'UTR SNP G A uc003mgx.2 DBN1_uc003mgy.2... Hybrid_Cap... view
EGFR 7 55238079 55238079 SW1116_LARGE_IN... 37 Intron SNP G A uc003tqk.2 EGFR_uc003tqj.2... Hybrid_Cap... view
EIF2AK1 7 6064007 6064008 SW1116_LARGE_IN... 37 3'UTR Ins - AGA rs71812014 uc003spp.2 EIF2AK1_uc003sp... Hybrid_Cap...
EIF4G1 p.GEA479del 3 184039767 184039775 SW1116_LARGE_IN... 37 In_Frame_Del Del AGGAG... - uc010hxx.2 EIF4G1_uc003fno... Hybrid_Cap...
EPHA6 3 97367230 97367231 SW1116_LARGE_IN... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ERCC5 p.SLT587del 13 103506652 103506660 SW1116_LARGE_IN... 37 In_Frame_Del Del CCAGT... - uc001vpu.1 ERCC5_uc010tjb.... Hybrid_Cap...
F8 p.R2016W X 154130395 154130395 SW1116_LARGE_IN... 37 Missense_Mutation SNP G A uc004fmt.2 F8_uc010nvi.1_I... Hybrid_Cap... view
FBN1 p.P323Q 15 48818347 48818347 SW1116_LARGE_IN... 37 Missense_Mutation SNP G T uc001zwx.1 Hybrid_Cap... view
FBN2 5 127595046 127595048 SW1116_LARGE_IN... 37 3'UTR Del TTA - uc003kuu.2 Hybrid_Cap...
FBXW7 p.H460Y 4 153249400 153249400 SW1116_LARGE_IN... 37 Missense_Mutation SNP G A uc003ims.2 FBXW7_uc011cii.... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 SW1116_LARGE_IN... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 SW1116_LARGE_IN... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 SW1116_LARGE_IN... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 SW1116_LARGE_IN... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GLI3 p.G1208W 7 42005049 42005049 SW1116_LARGE_IN... 37 Missense_Mutation SNP C A uc011kbh.1 GLI3_uc011kbg.1... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 SW1116_LARGE_IN... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 SW1116_LARGE_IN... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HMGA2 12 66357106 66357106 SW1116_LARGE_IN... 37 3'UTR SNP A C uc001ssx.2 Hybrid_Cap... view
HNF1A 12 121434630 121434631 SW1116_LARGE_IN... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 SW1116_LARGE_IN... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 SW1116_LARGE_IN... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAK1 p.G948R 1 65305286 65305286 SW1116_LARGE_IN... 37 Missense_Mutation SNP C T uc001dbu.1 JAK1_uc009wam.1... Hybrid_Cap... view
JARID2 p.D156N 6 15452379 15452379 SW1116_LARGE_IN... 37 Missense_Mutation SNP G A uc003nbj.2 JARID2_uc011diu... Hybrid_Cap... view
KRAS p.G12A 12 25398284 25398284 SW1116_LARGE_IN... 37 Missense_Mutation SNP C G uc001rgp.1 KRAS_uc001rgq.1... Hybrid_Cap... view
LRP1B p.P203Q 2 141986994 141986994 SW1116_LARGE_IN... 37 Missense_Mutation SNP G T uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
MAML2 p.Y58H 11 96074888 96074888 SW1116_LARGE_IN... 37 Missense_Mutation SNP A G uc001pfw.1 Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 SW1116_LARGE_IN... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 SW1116_LARGE_IN... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 SW1116_LARGE_IN... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
NCAM1 11 112832307 112832308 SW1116_LARGE_IN... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SW1116_LARGE_IN... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.T377fs 13 52710307 52710308 SW1116_LARGE_IN... 37 Frame_Shift_Del Del TG - uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 SW1116_LARGE_IN... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NEK9 p.N121D 14 75590785 75590785 SW1116_LARGE_IN... 37 Missense_Mutation SNP T C uc001xrl.2 Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 SW1116_LARGE_IN... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUAK1 12 106460492 106460492 SW1116_LARGE_IN... 37 3'UTR SNP G A uc001tlj.1 Hybrid_Cap... view
PATZ1 p.G634V 22 31723040 31723040 SW1116_LARGE_IN... 37 Missense_Mutation SNP C A uc003akq.2 PATZ1_uc003akp.... Hybrid_Cap... view
PAX3 2 223158653 223158653 SW1116_LARGE_IN... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PIK3C2G 12 18800990 18800990 SW1116_LARGE_IN... 37 3'UTR Del A - rs16914368 uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PREX2 p.M569I 8 68992742 68992742 SW1116_LARGE_IN... 37 Missense_Mutation SNP G T uc003xxv.1 PREX2_uc003xxu.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 SW1116_LARGE_IN... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTPRU p.T961N 1 29637287 29637287 SW1116_LARGE_IN... 37 Missense_Mutation SNP C A uc001bru.2 PTPRU_uc001brv.... Hybrid_Cap... view
RANBP17 p.C193S 5 170336752 170336752 SW1116_LARGE_IN... 37 Missense_Mutation SNP T A uc003mba.2 RANBP17_uc003ma... Hybrid_Cap... view
RAPGEF2 4 160189200 160189201 SW1116_LARGE_IN... 37 5'UTR Ins - T rs72011511 uc003iqg.3 Hybrid_Cap...
RPS6KA5 14 91360733 91360734 SW1116_LARGE_IN... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
SPEG p.R2847* 2 220354279 220354279 SW1116_LARGE_IN... 37 Nonsense_Mutation SNP C T uc010fwg.2 Hybrid_Cap... view
STAT5A 17 40462797 40462800 SW1116_LARGE_IN... 37 3'UTR Del TGTG - uc002hzj.1 STAT5A_uc010cya... Hybrid_Cap...
STK31 7 23872024 23872025 SW1116_LARGE_IN... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TCF21 6 134210497 134210498 SW1116_LARGE_IN... 37 5'UTR Ins - TCTC rs35199378 uc003qei.3 TCF21_uc003qej.... Hybrid_Cap...
TEC 4 48139307 48139310 SW1116_LARGE_IN... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TIAM1 p.D1325N 21 32502603 32502603 SW1116_LARGE_IN... 37 Missense_Mutation SNP C T uc002yow.1 TIAM1_uc011adk.... Hybrid_Cap... view
TLK1 2 171850178 171850179 SW1116_LARGE_IN... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269461 102269461 SW1116_LARGE_IN... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TP53 p.A159D 17 7578454 7578454 SW1116_LARGE_IN... 37 Missense_Mutation SNP G T uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 SW1116_LARGE_IN... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TPM3 1 154144680 154144681 SW1116_LARGE_IN... 37 Intron DNP AA TT rs34335016 uc001fec.1 TPM3_uc001fdx.1... Hybrid_Cap...
TRIM33 1 114940215 114940216 SW1116_LARGE_IN... 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRPS1 8 116635872 116635873 SW1116_LARGE_IN... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TSC1 9 135771333 135771333 SW1116_LARGE_IN... 37 3'UTR Del A - rs115091888 uc004cca.2 TSC1_uc004ccb.3... Hybrid_Cap...
TTN p.I7466N 2 179579784 179579784 SW1116_LARGE_IN... 37 Missense_Mutation SNP A T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN 2 179616598 179616598 SW1116_LARGE_IN... 37 Intron SNP A C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TXK p.P268S 4 48088637 48088637 SW1116_LARGE_IN... 37 Missense_Mutation SNP G A uc003gxx.3 Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 SW1116_LARGE_IN... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WHSC1L1 8 38175405 38175405 SW1116_LARGE_IN... 37 Intron SNP C A uc003xli.2 WHSC1L1_uc011lb... Hybrid_Cap... view
ZAK 2 174131511 174131512 SW1116_LARGE_IN... 37 3'UTR Ins - A rs75896701 uc002uhz.2 Hybrid_Cap...
ZNF423 p.R54I 16 49764798 49764798 SW1116_LARGE_IN... 37 Missense_Mutation SNP C A uc002efs.2 Hybrid_Cap... view
ZNF608 p.E145Q 5 124080250 124080250 SW1116_LARGE_IN... 37 Missense_Mutation SNP C G uc003ktq.1 ZNF608_uc003ktr... Hybrid_Cap... view