Annotation Summary for Cell Line: SNU-283  

Cell line primary name: SNU-283
Cell line aliases: NCI-SNU-283
Gender: F
Site Primary: large_intestine
Histology: carcinoma
Hist Subtype1: NS
Notes:
Source: KCLB
Expression arrays: GILDS_p_NCLE_RNA11_Redo_HG-U133_Plus_2_B08_587738
SNP arrays: QUAFF_p_NCLE_DNAAffy12_GenomeWideSNP_6_C02_592762
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SNU-283

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ABCC3 p.A148V 17 48734501 48734501 SNU283_LARGE_IN... 37 Missense_Mutation SNP C T uc002isl.2 ABCC3_uc002isk.... Hybrid_Cap... view
ACACA p.A401V 17 35620715 35620715 SNU283_LARGE_IN... 37 Missense_Mutation SNP G A uc002hno.2 ACACA_uc002hnk.... Hybrid_Cap... view
ADAM28 8 24211994 24211997 SNU283_LARGE_IN... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM29 p.T144M 4 175897107 175897107 SNU283_LARGE_IN... 37 Missense_Mutation SNP C T uc003iuc.2 ADAM29_uc003iud... Hybrid_Cap... view
AKAP9 p.1335_1336insQ 7 91652178 91652179 SNU283_LARGE_IN... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347535 113347535 SNU283_LARGE_IN... 37 Intron SNP T C uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap... view
APC p.N1815K 5 112176736 112176736 SNU283_LARGE_IN... 37 Missense_Mutation SNP T G uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
ARAF p.R603C X 47430842 47430842 SNU283_LARGE_IN... 37 Missense_Mutation SNP C T uc011mlq.1 Hybrid_Cap... view
ARHGDIB p.R169Q 12 15095556 15095556 SNU283_LARGE_IN... 37 Missense_Mutation SNP C T uc001rcq.1 ARHGDIB_uc001rc... Hybrid_Cap... view
ATF1 12 51213710 51213710 SNU283_LARGE_IN... 37 3'UTR SNP G C uc001rww.3 ATF1_uc010smu.1... Hybrid_Cap... view
ATM p.R2832H 11 108216546 108216546 SNU283_LARGE_IN... 37 Missense_Mutation SNP G A uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
AXL 19 41765898 41765898 SNU283_LARGE_IN... 37 3'UTR SNP G A uc010ehj.2 CYP2F1_uc010xvw... Hybrid_Cap... view
BMPR2 p.K667T 2 203420388 203420388 SNU283_LARGE_IN... 37 Missense_Mutation SNP A C uc002uzf.3 BMPR2_uc010ftr.... Hybrid_Cap... view
CACNB2 10 18828721 18828722 SNU283_LARGE_IN... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CCNT1 12 49086802 49086805 SNU283_LARGE_IN... 37 3'UTR Del TTCT - uc001rse.1 LOC144438_uc001... Hybrid_Cap...
CDK11B 1 1654066 1654068 SNU283_LARGE_IN... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 SNU283_LARGE_IN... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339681 1339686 SNU283_LARGE_IN... 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CXCL10 4 76942812 76942812 SNU283_LARGE_IN... 37 3'UTR SNP A G uc003hjl.3 ART3_uc003hji.2... Hybrid_Cap... view
CXCR1 2 219028861 219028861 SNU283_LARGE_IN... 37 3'UTR SNP A C uc002vhc.2 Hybrid_Cap... view
DFFB 1 3800395 3800395 SNU283_LARGE_IN... 37 3'UTR SNP T G uc010nzn.1 DFFB_uc001alc.2... Hybrid_Cap... view
DPYD p.K875Q 1 97564188 97564188 SNU283_LARGE_IN... 37 Missense_Mutation SNP T G uc001drv.2 Hybrid_Cap... view
EGF p.E1134fs 4 110932389 110932390 SNU283_LARGE_IN... 37 Frame_Shift_Ins Ins - C rs11569144 uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap...
EIF2S1 p.M30fs 14 67831574 67831574 SNU283_LARGE_IN... 37 Frame_Shift_Del Del G - uc001xjg.2 Hybrid_Cap...
EPHA6 3 97367230 97367231 SNU283_LARGE_IN... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 SNU283_LARGE_IN... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 SNU283_LARGE_IN... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR2 p.D142V 10 123324045 123324045 SNU283_LARGE_IN... 37 Missense_Mutation SNP T A uc010qtj.1 FGFR2_uc010qtg.... Hybrid_Cap... view
FLI1 11 128638217 128638217 SNU283_LARGE_IN... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 SNU283_LARGE_IN... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 SNU283_LARGE_IN... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 SNU283_LARGE_IN... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 SNU283_LARGE_IN... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
GUCY2F p.E929_splice X 108631890 108631890 SNU283_LARGE_IN... 37 Splice_Site_SNP SNP T C rs56252179 uc004eod.3 GUCY2F_uc011msq... Hybrid_Cap... view
HIF1A p.R632H 14 62207705 62207705 SNU283_LARGE_IN... 37 Missense_Mutation SNP G A uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap... view
HIF1A 14 62213929 62213930 SNU283_LARGE_IN... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HIPK3 p.M439T 11 33358715 33358715 SNU283_LARGE_IN... 37 Missense_Mutation SNP T C uc001mul.1 HIPK3_uc001mum.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 SNU283_LARGE_IN... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 SNU283_LARGE_IN... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
IKBKB p.A710T 8 42186655 42186655 SNU283_LARGE_IN... 37 Missense_Mutation SNP G A rs34309584 uc003xow.1 IKBKB_uc010lxj.... Hybrid_Cap... view
IKZF1 p.D22N 7 50367257 50367257 SNU283_LARGE_IN... 37 Missense_Mutation SNP G A uc003tow.3 IKZF1_uc003tox.... Hybrid_Cap... view
ILK 11 6630029 6630029 SNU283_LARGE_IN... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 SNU283_LARGE_IN... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KALRN p.N2973S 3 124438274 124438274 SNU283_LARGE_IN... 37 Missense_Mutation SNP A G rs16835896 uc003ehg.2 KALRN_uc003ehk.... Hybrid_Cap... view
KDR p.K760E 4 55964959 55964959 SNU283_LARGE_IN... 37 Missense_Mutation SNP T C uc003has.2 KDR_uc003hat.1_... Hybrid_Cap... view
KLK7 19 51480672 51480675 SNU283_LARGE_IN... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LATS2 13 21620222 21620223 SNU283_LARGE_IN... 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LIMK2 p.K500R 22 31669441 31669441 SNU283_LARGE_IN... 37 Missense_Mutation SNP A G uc003akj.2 LIMK2_uc003akg.... Hybrid_Cap... view
LRP1B p.D869N 2 141751603 141751603 SNU283_LARGE_IN... 37 Missense_Mutation SNP C T uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 SNU283_LARGE_IN... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 SNU283_LARGE_IN... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK14 6 36076345 36076354 SNU283_LARGE_IN... 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MECOM 3 169381200 169381201 SNU283_LARGE_IN... 37 5'UTR Ins - T uc011bpj.1 MECOM_uc011bpk.... Hybrid_Cap...
MLL3 p.S1991fs 7 151878974 151878974 SNU283_LARGE_IN... 37 Frame_Shift_Del Del A - uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap...
MMP2 p.R101C 16 55516968 55516968 SNU283_LARGE_IN... 37 Missense_Mutation SNP C T uc002ehz.3 MMP2_uc010vhd.1... Hybrid_Cap... view
MSH2 p.Q419K 2 47657059 47657059 SNU283_LARGE_IN... 37 Missense_Mutation SNP C A uc002rvz.2 MSH2_uc010yoh.1... Hybrid_Cap... view
MYH11 16 15797811 15797811 SNU283_LARGE_IN... 37 3'UTR SNP G T rs75821286 uc002ddx.2 MYH11_uc002ddv.... Hybrid_Cap... view
MYLK p.E1066del 3 123419117 123419119 SNU283_LARGE_IN... 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYO3B p.N388S 2 171239677 171239677 SNU283_LARGE_IN... 37 Missense_Mutation SNP A G rs34273653 uc002ufy.2 MYO3B_uc002ufv.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 SNU283_LARGE_IN... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SNU283_LARGE_IN... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 SNU283_LARGE_IN... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NPM1 5 170837734 170837734 SNU283_LARGE_IN... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 SNU283_LARGE_IN... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50384978 50384978 SNU283_LARGE_IN... 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 SNU283_LARGE_IN... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUP210 p.K1653R 3 13363293 13363293 SNU283_LARGE_IN... 37 Missense_Mutation SNP T C uc003bxv.1 Hybrid_Cap... view
PAX3 2 223066017 223066018 SNU283_LARGE_IN... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 SNU283_LARGE_IN... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDK4 7 95221928 95221928 SNU283_LARGE_IN... 37 Intron Del A - uc003uoa.2 PDK4_uc003unz.2... Hybrid_Cap...
PLCG1 p.T61M 20 39766463 39766463 SNU283_LARGE_IN... 37 Missense_Mutation SNP C T uc002xjo.1 PLCG1_uc002xjp.... Hybrid_Cap... view
PRKD3 p.V317I 2 37509724 37509724 SNU283_LARGE_IN... 37 Missense_Mutation SNP C T uc002rqd.2 PRKD3_uc002rqf.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 SNU283_LARGE_IN... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTK2B p.V760I 8 27303374 27303374 SNU283_LARGE_IN... 37 Missense_Mutation SNP G A uc003xfn.1 PTK2B_uc003xfo.... Hybrid_Cap... view
PTPRC 1 198608375 198608375 SNU283_LARGE_IN... 37 5'UTR SNP T C uc001gur.1 PTPRC_uc001gus.... Hybrid_Cap... view
PTPRU p.D906G 1 29631305 29631305 SNU283_LARGE_IN... 37 Missense_Mutation SNP A G uc001bru.2 PTPRU_uc001brv.... Hybrid_Cap... view
RASA1 p.T843N 5 86675592 86675592 SNU283_LARGE_IN... 37 Missense_Mutation SNP C A uc003kiw.2 RASA1_uc010jav.... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 SNU283_LARGE_IN... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RECQL4 p.R355Q 8 145741439 145741439 SNU283_LARGE_IN... 37 Missense_Mutation SNP C T uc003zdj.2 LRRC14_uc003zdk... Hybrid_Cap... view
RELA 11 65423153 65423153 SNU283_LARGE_IN... 37 Intron Del C - uc010ron.1 RELA_uc001ofg.2... Hybrid_Cap...
RHEB p.Q25R 7 151188079 151188079 SNU283_LARGE_IN... 37 Missense_Mutation SNP T C uc003wkh.1 Hybrid_Cap... view
ROBO2 3 77666937 77666937 SNU283_LARGE_IN... 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
RPS6KA5 14 91360733 91360734 SNU283_LARGE_IN... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 SNU283_LARGE_IN... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SLC45A3 1 205633796 205633796 SNU283_LARGE_IN... 37 5'UTR SNP C T uc001hda.1 SLC45A3_uc010pr... Hybrid_Cap... view
SLC6A8 X 152957656 152957657 SNU283_LARGE_IN... 37 Intron Ins - A uc004fib.3 SLC6A8_uc004fic... Hybrid_Cap...
SMAD4 p.D355G 18 48591901 48591901 SNU283_LARGE_IN... 37 Missense_Mutation SNP A G uc010xdp.1 SMAD4_uc002lfb.... Hybrid_Cap... view
SMURF2 p.R106L 17 62589575 62589575 SNU283_LARGE_IN... 37 Missense_Mutation SNP C A uc002jep.1 SMURF2_uc002jeq... Hybrid_Cap... view
SNX19 p.W838S 11 130773210 130773210 SNU283_LARGE_IN... 37 Missense_Mutation SNP C G uc001qgk.3 SNX19_uc009zcw.... Hybrid_Cap... view
STK31 7 23871994 23871994 SNU283_LARGE_IN... 37 3'UTR SNP T A uc003sws.3 STK31_uc003swt.... Hybrid_Cap... view
STK31 7 23872024 23872025 SNU283_LARGE_IN... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TEC 4 48139307 48139310 SNU283_LARGE_IN... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TMEM123 11 102269398 102269398 SNU283_LARGE_IN... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNFSF11 p.D304Y 13 43181010 43181010 SNU283_LARGE_IN... 37 Missense_Mutation SNP G T uc001uyu.2 TNFSF11_uc001uy... Hybrid_Cap... view
TP63 3 189507518 189507519 SNU283_LARGE_IN... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIM33 1 114940215 114940216 SNU283_LARGE_IN... 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRPS1 p.A153T 8 116631868 116631868 SNU283_LARGE_IN... 37 Missense_Mutation SNP C T uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap... view
TTN 2 179391639 179391640 SNU283_LARGE_IN... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.E32252K 2 179396884 179396884 SNU283_LARGE_IN... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 SNU283_LARGE_IN... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WLS p.V519L 1 68564392 68564392 SNU283_LARGE_IN... 37 Missense_Mutation SNP C G uc001dee.2 Hybrid_Cap... view
ZNF217 p.P823L 20 52192835 52192835 SNU283_LARGE_IN... 37 Missense_Mutation SNP G A uc002xwq.3 ZNF217_uc010gij... Hybrid_Cap... view