Annotation Summary for Cell Line: COLO-680N  

Cell line primary name: COLO-680N
Cell line aliases:
Gender: F
Site Primary: oesophagus
Histology: carcinoma
Hist Subtype1: squamous_cell_carcinoma
Notes:
Source: DSMZ
Expression arrays: SILOS_p_NCLE_RNA9_HG-U133_Plus_2_F02_523546
SNP arrays: CHARY_p_NCLE_DNAAffy9_GenomeWideSNP_6_E05_490472
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in COLO-680N

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 COLO680N_OESOPH... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABCC3 17 48757065 48757065 COLO680N_OESOPH... 37 Intron SNP G A uc002isl.2 ABCC3_uc002isn.... Hybrid_Cap... view
ADAM12 p.T113M 10 127843797 127843797 COLO680N_OESOPH... 37 Missense_Mutation SNP G A uc001ljk.2 ADAM12_uc010qul... Hybrid_Cap... view
ADAM17 2 9630245 9630245 COLO680N_OESOPH... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 COLO680N_OESOPH... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS18 16 77326893 77326893 COLO680N_OESOPH... 37 Intron SNP T G uc002ffc.3 ADAMTS18_uc010c... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 COLO680N_OESOPH... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP6 14 33201982 33201983 COLO680N_OESOPH... 37 Intron Ins - T rs71868172 uc001wrq.2 AKAP6_uc010aml.... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 COLO680N_OESOPH... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ATM p.H683R 11 108124690 108124690 COLO680N_OESOPH... 37 Missense_Mutation SNP A G uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
BCR 22 23631813 23631814 COLO680N_OESOPH... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BMP4 14 54416601 54416602 COLO680N_OESOPH... 37 3'UTR Del CT - rs74495140;rs76335800 uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap...
BMPR1A 10 88683519 88683521 COLO680N_OESOPH... 37 3'UTR Del TTT - uc001kdy.2 BMPR1A_uc001kdz... Hybrid_Cap...
BRD2 p.E500del 6 32945699 32945701 COLO680N_OESOPH... 37 In_Frame_Del Del GAG - uc010juh.2 BRD2_uc003ocn.3... Hybrid_Cap...
C17ORF37 17 37885640 37885641 COLO680N_OESOPH... 37 3'UTR Ins - G rs75811535 uc002hsq.2 Hybrid_Cap...
C1ORF86 1 2115985 2115985 COLO680N_OESOPH... 37 3'UTR SNP C T uc001aix.1 PRKCZ_uc001aiq.... Hybrid_Cap... view
CACNA1F p.815_815E>EE X 49076224 49076225 COLO680N_OESOPH... 37 In_Frame_Ins Ins - TCC uc004dnb.2 CACNA1F_uc010ni... Hybrid_Cap...
CACNB2 10 18828721 18828722 COLO680N_OESOPH... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CARD10 p.KE272del 22 37906309 37906314 COLO680N_OESOPH... 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CDC5L 6 44355462 44355462 COLO680N_OESOPH... 37 5'UTR SNP G T uc003oxl.2 Hybrid_Cap... view
CDK13 p.P1443T 7 40134367 40134367 COLO680N_OESOPH... 37 Missense_Mutation SNP C A uc003thh.3 CDK13_uc003thi.... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 COLO680N_OESOPH... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHD1 p.L646V 5 98229175 98229175 COLO680N_OESOPH... 37 Missense_Mutation SNP G C uc003knf.2 Hybrid_Cap... view
CHD9 p.A646T 16 53260317 53260317 COLO680N_OESOPH... 37 Missense_Mutation SNP G A uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 COLO680N_OESOPH... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339681 1339686 COLO680N_OESOPH... 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
COL3A1 p.DDQ68del 2 189849608 189849616 COLO680N_OESOPH... 37 In_Frame_Del Del GACGA... - rs112714742 uc002uqj.1 Hybrid_Cap...
CSF3R 1 36931882 36931882 COLO680N_OESOPH... 37 3'UTR SNP C T uc001cax.1 MRPS15_uc001cas... Hybrid_Cap... view
CTBP2 p.K974fs 10 126678123 126678123 COLO680N_OESOPH... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CTBP2 p.L850F 10 126681880 126681880 COLO680N_OESOPH... 37 Missense_Mutation SNP C A uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap... view
DST p.S2793F 6 56420544 56420544 COLO680N_OESOPH... 37 Missense_Mutation SNP G A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
ECM1 p.T555A 1 150485896 150485896 COLO680N_OESOPH... 37 Missense_Mutation SNP A G uc001euu.2 ECM1_uc001eus.2... Hybrid_Cap... view
EDN1 6 12296150 12296151 COLO680N_OESOPH... 37 Intron Ins - T rs66570617 uc003nae.3 EDN1_uc003nad.2... Hybrid_Cap...
EPHA6 3 97367230 97367231 COLO680N_OESOPH... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHB2 p.R712W 1 23233448 23233448 COLO680N_OESOPH... 37 Missense_Mutation SNP C T uc009vqj.1 EPHB2_uc001bge.... Hybrid_Cap... view
ESR2 14 64749741 64749741 COLO680N_OESOPH... 37 5'UTR SNP G A uc001xha.1 ESR2_uc001xgu.2... Hybrid_Cap... view
ETV1 7 14028708 14028708 COLO680N_OESOPH... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FLNA p.K2024N X 153581523 153581523 COLO680N_OESOPH... 37 Missense_Mutation SNP C G uc004fkk.2 FLNA_uc004fki.2... Hybrid_Cap... view
FN1 2 216244182 216244185 COLO680N_OESOPH... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FSCB p.A201fs 14 44975587 44975588 COLO680N_OESOPH... 37 Frame_Shift_Del Del TT - uc001wvn.2 Hybrid_Cap...
GRB2 17 73316225 73316225 COLO680N_OESOPH... 37 3'UTR SNP T C uc002jnx.3 GRB2_uc002jny.3... Hybrid_Cap... view
GRIA3 X 122318386 122318387 COLO680N_OESOPH... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 COLO680N_OESOPH... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
GUCY2F p.D240N X 108718448 108718448 COLO680N_OESOPH... 37 Missense_Mutation SNP C T uc004eod.3 GUCY2F_uc011msq... Hybrid_Cap... view
HECW1 p.P794T 7 43485151 43485151 COLO680N_OESOPH... 37 Missense_Mutation SNP C A uc003tid.1 HECW1_uc011kbi.... Hybrid_Cap... view
HIF1A 14 62213929 62213930 COLO680N_OESOPH... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HIPK4 19 40895865 40895865 COLO680N_OESOPH... 37 5'UTR SNP C T uc002onp.2 Hybrid_Cap... view
ILK 11 6630029 6630029 COLO680N_OESOPH... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INPP4B p.L360V 4 143114343 143114343 COLO680N_OESOPH... 37 Missense_Mutation SNP G C uc003iix.3 INPP4B_uc003iiw... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 COLO680N_OESOPH... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAZF1 7 27872323 27872323 COLO680N_OESOPH... 37 3'UTR SNP T C uc003szn.2 JAZF1_uc003szm.... Hybrid_Cap... view
LRP2 p.R853T 2 170113715 170113715 COLO680N_OESOPH... 37 Missense_Mutation SNP C G uc002ues.2 LRP2_uc010zdf.1... Hybrid_Cap... view
MAMDC4 p.L348L 9 139749409 139749409 COLO680N_OESOPH... 37 Silent SNP G C uc004cjs.2 MAMDC4_uc011mej... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 COLO680N_OESOPH... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K6 17 67516332 67516332 COLO680N_OESOPH... 37 Intron SNP G A uc002jij.2 MAP2K6_uc002jii... Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 COLO680N_OESOPH... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAPKBP1 p.V373L 15 42106866 42106866 COLO680N_OESOPH... 37 Missense_Mutation SNP G T uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap... view
MLLT3 9 20620854 20620854 COLO680N_OESOPH... 37 Intron SNP G C uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap... view
MLLT4 6 168370624 168370626 COLO680N_OESOPH... 37 3'UTR Del GAG - uc003qwd.2 Hybrid_Cap...
MLLT6 17 36881873 36881873 COLO680N_OESOPH... 37 3'UTR Del C - uc002hqi.3 MLLT6_uc002hqk.... Hybrid_Cap...
MSH3 p.PPA66del 5 79950742 79950750 COLO680N_OESOPH... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MYH10 17 8378900 8378900 COLO680N_OESOPH... 37 3'UTR SNP A G uc002glm.2 MYH10_uc002gll.... Hybrid_Cap... view
MYO3B p.T924A 2 171319917 171319917 COLO680N_OESOPH... 37 Missense_Mutation SNP A G uc002ufy.2 MYO3B_uc002ufv.... Hybrid_Cap... view
MYO3B p.P1241fs 2 171400488 171400488 COLO680N_OESOPH... 37 Frame_Shift_Del Del T - uc002ufy.2 MYO3B_uc010fqb.... Hybrid_Cap...
MYST4 p.E1104del 10 76781906 76781908 COLO680N_OESOPH... 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
MYT1 p.EE304del 20 62839435 62839440 COLO680N_OESOPH... 37 In_Frame_Del Del GAGGA... - uc002yii.2 MYT1_uc002yih.2... Hybrid_Cap...
NCAM1 11 112832307 112832308 COLO680N_OESOPH... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 COLO680N_OESOPH... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279864 46279866 COLO680N_OESOPH... 37 In_Frame_Del Del CAA - rs1132443;rs28529067 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NPR1 p.K645M 1 153659562 153659562 COLO680N_OESOPH... 37 Missense_Mutation SNP A T uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881822 50881823 COLO680N_OESOPH... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
OBSCN p.A7379V 1 228560615 228560615 COLO680N_OESOPH... 37 Missense_Mutation SNP C T uc009xez.1 OBSCN_uc001hsr.... Hybrid_Cap... view
PATZ1 p.G99E 22 31741293 31741293 COLO680N_OESOPH... 37 Missense_Mutation SNP C T uc003akq.2 PATZ1_uc003akp.... Hybrid_Cap... view
PAX3 2 223158653 223158653 COLO680N_OESOPH... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PCDH15 p.1874_1875TT>T 10 55581883 55581885 COLO680N_OESOPH... 37 In_Frame_Del Del GTT - uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap...
PDE4DIP p.Q1665fs 1 144873963 144873963 COLO680N_OESOPH... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 COLO680N_OESOPH... 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDGFRA 4 55131002 55131002 COLO680N_OESOPH... 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PDK4 7 95221928 95221928 COLO680N_OESOPH... 37 Intron Del A - uc003uoa.2 PDK4_uc003unz.2... Hybrid_Cap...
PGR 11 100933598 100933599 COLO680N_OESOPH... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2G 12 18800990 18800990 COLO680N_OESOPH... 37 3'UTR Del A - rs16914368 uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3R4 p.A874S 3 130425893 130425893 COLO680N_OESOPH... 37 Missense_Mutation SNP C A uc003enj.2 Hybrid_Cap... view
PLK2 5 57755013 57755014 COLO680N_OESOPH... 37 Intron Ins - A rs79105101 uc003jrn.2 PLK2_uc011cql.1... Hybrid_Cap...
PMS1 2 190670539 190670540 COLO680N_OESOPH... 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
POU5F1B p.C70fs 8 128428321 128428322 COLO680N_OESOPH... 37 Frame_Shift_Ins Ins - G uc003ysf.2 LOC727677_uc003... Hybrid_Cap...
POU5F1B p.P339A 8 128429126 128429126 COLO680N_OESOPH... 37 Missense_Mutation SNP C G uc003ysf.2 LOC727677_uc003... Hybrid_Cap... view
PRKCI 3 170021083 170021084 COLO680N_OESOPH... 37 3'UTR Ins - A uc003fgs.2 PRKCI_uc003fgt.... Hybrid_Cap...
PRKD3 2 37480319 37480320 COLO680N_OESOPH... 37 Stop_Codon_Ins Ins - T rs79875666 uc002rqd.2 Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 COLO680N_OESOPH... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTPN11 p.V583M 12 112942533 112942533 COLO680N_OESOPH... 37 Missense_Mutation SNP G A uc001ttx.2 Hybrid_Cap... view
RANBP17 5 170725866 170725866 COLO680N_OESOPH... 37 3'UTR SNP G A uc003mba.2 RANBP17_uc003mb... Hybrid_Cap... view
RBL1 20 35632029 35632029 COLO680N_OESOPH... 37 Intron Del A - uc002xgi.2 RBL1_uc010zvt.1... Hybrid_Cap...
RBPJ 4 26431822 26431822 COLO680N_OESOPH... 37 Intron Del A - rs76214390 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap...
REM1 20 30064232 30064233 COLO680N_OESOPH... 37 5'UTR Ins - C uc002wwa.2 Hybrid_Cap...
ROBO1 3 78647940 78647940 COLO680N_OESOPH... 37 3'UTR Del T - rs66635326 uc003dqe.2 ROBO1_uc003dqb.... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 COLO680N_OESOPH... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
RPTOR p.R789H 17 78867630 78867630 COLO680N_OESOPH... 37 Missense_Mutation SNP G A uc002jyt.1 RPTOR_uc010wug.... Hybrid_Cap... view
SPEN p.D1601H 1 16257536 16257536 COLO680N_OESOPH... 37 Missense_Mutation SNP G C uc001axk.1 SPEN_uc010obp.1... Hybrid_Cap... view
STK31 7 23872024 23872025 COLO680N_OESOPH... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TEX14 p.W216* 17 56693673 56693673 COLO680N_OESOPH... 37 Nonsense_Mutation SNP C T uc010dcz.1 TEX14_uc002iwr.... Hybrid_Cap... view
TGFB2 1 218519928 218519929 COLO680N_OESOPH... 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TMEM123 11 102269398 102269398 COLO680N_OESOPH... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNFRSF1A p.E254D 12 6439439 6439439 COLO680N_OESOPH... 37 Missense_Mutation SNP T G uc001qnu.2 TNFRSF1A_uc001q... Hybrid_Cap... view
TNNI3K 1 74836279 74836279 COLO680N_OESOPH... 37 Intron SNP C T uc001dge.1 TNNI3K_uc001dgc... Hybrid_Cap... view
TP53 p.R248W 17 7577539 7577539 COLO680N_OESOPH... 37 Missense_Mutation SNP G A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 COLO680N_OESOPH... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIM33 1 114940211 114940212 COLO680N_OESOPH... 37 3'UTR Ins - T rs66490349 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TTN 2 179391639 179391640 COLO680N_OESOPH... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
UBR5 p.R1793K 8 103297847 103297847 COLO680N_OESOPH... 37 Missense_Mutation SNP C T uc003ykr.1 UBR5_uc003yks.1... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 COLO680N_OESOPH... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VPS13B 8 100887925 100887926 COLO680N_OESOPH... 37 3'UTR Ins - TGAT uc003yiv.2 VPS13B_uc003yiw... Hybrid_Cap...
ZAK 2 174085902 174085902 COLO680N_OESOPH... 37 Intron SNP A C uc002uhz.2 ZAK_uc002uhy.2_... Hybrid_Cap... view