Annotation Summary for Cell Line: HuCCT1  

Cell line primary name: HuCCT1
Cell line aliases:
Gender: M
Site Primary: biliary_tract
Histology: carcinoma
Hist Subtype1: NS
Notes:
Source: HSRRB
Expression arrays: BUNDS_p_NCLE_RNA5_HG-U133_Plus_2_E07_419756
SNP arrays: PODIA_p_NCLE_DNAAffy7_GenomeWideSNP_6_B07_437528
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in HuCCT1

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 HUCCT1_BILIARY_... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM28 8 24211994 24211997 HUCCT1_BILIARY_... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 HUCCT1_BILIARY_... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK1 4 113347609 113347610 HUCCT1_BILIARY_... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALS2 2 202587706 202587707 HUCCT1_BILIARY_... 37 Intron Ins - A rs3219165 uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap...
ANAPC5 p.A600V 12 121756174 121756174 HUCCT1_BILIARY_... 37 Missense_Mutation SNP G A uc001uag.2 ANAPC5_uc010szu... Hybrid_Cap... view
ANGPTL4 p.V324I 19 8436337 8436337 HUCCT1_BILIARY_... 37 Missense_Mutation SNP G A uc002mjq.1 ANGPTL4_uc002mj... Hybrid_Cap... view
ARNT p.P706L 1 150785811 150785811 HUCCT1_BILIARY_... 37 Missense_Mutation SNP G A rs2275237 uc001evr.1 ARNT_uc010pck.1... Hybrid_Cap... view
AURKC 19 57742531 57742532 HUCCT1_BILIARY_... 37 5'UTR Ins - C uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
C15ORF2 p.A776S 15 24923340 24923340 HUCCT1_BILIARY_... 37 Missense_Mutation SNP G T uc001ywo.2 Hybrid_Cap... view
CAMK1G 1 209786465 209786465 HUCCT1_BILIARY_... 37 3'UTR SNP C A uc001hhd.2 CAMK1G_uc001hhe... Hybrid_Cap... view
CCL5 17 34199283 34199283 HUCCT1_BILIARY_... 37 3'UTR SNP G A uc002hkf.2 Hybrid_Cap... view
CD40 20 44751753 44751753 HUCCT1_BILIARY_... 37 Intron SNP A G uc002xrg.1 CD40_uc002xrf.1... Hybrid_Cap... view
CDK18 p.TPID350del 1 205497280 205497291 HUCCT1_BILIARY_... 37 In_Frame_Del Del ACCCC... - uc001hcr.2 CDK18_uc001hcp.... Hybrid_Cap...
CHRNA5 15 78885615 78885616 HUCCT1_BILIARY_... 37 3'UTR Ins - TA rs72534078 uc002bdy.2 CHRNA3_uc002bea... Hybrid_Cap...
CLPTM1L p.N521fs 5 1318538 1318538 HUCCT1_BILIARY_... 37 Frame_Shift_Del Del G - uc003jch.2 CLPTM1L_uc003jc... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 HUCCT1_BILIARY_... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 HUCCT1_BILIARY_... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CXCL12 10 44873992 44873993 HUCCT1_BILIARY_... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
CYP24A1 p.Q442* 20 52774037 52774037 HUCCT1_BILIARY_... 37 Nonsense_Mutation SNP G A uc002xwv.2 CYP24A1_uc002xw... Hybrid_Cap... view
DDR2 1 162750211 162750211 HUCCT1_BILIARY_... 37 3'UTR Del T - uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap...
DHFR p.G122fs 5 79950390 79950390 HUCCT1_BILIARY_... 37 Frame_Shift_Del Del C - uc003kgx.1 MSH3_uc003kgz.2... Hybrid_Cap...
DVL1 p.S313R 1 1275163 1275163 HUCCT1_BILIARY_... 37 Missense_Mutation SNP G C uc001aer.3 DVL1_uc002quu.2... Hybrid_Cap... view
EGF p.E1134fs 4 110932389 110932390 HUCCT1_BILIARY_... 37 Frame_Shift_Ins Ins - C rs11569144 uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap...
EP300 22 41574970 41574972 HUCCT1_BILIARY_... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA4 p.R198C 2 222428682 222428682 HUCCT1_BILIARY_... 37 Missense_Mutation SNP G A uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap... view
ERBB3 p.E981Q 12 56493625 56493625 HUCCT1_BILIARY_... 37 Missense_Mutation SNP G C uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap... view
ETV1 7 14028708 14028708 HUCCT1_BILIARY_... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FBXW7 p.S294* 4 153253852 153253852 HUCCT1_BILIARY_... 37 Nonsense_Mutation SNP G C uc003ims.2 FBXW7_uc011cii.... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 HUCCT1_BILIARY_... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 HUCCT1_BILIARY_... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FMO4 p.H154fs 1 171293417 171293417 HUCCT1_BILIARY_... 37 Frame_Shift_Del Del T - uc001gho.2 Hybrid_Cap...
FN1 2 216244182 216244185 HUCCT1_BILIARY_... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXP1 3 71008341 71008342 HUCCT1_BILIARY_... 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
GLYAT p.I197T 11 58477540 58477540 HUCCT1_BILIARY_... 37 Missense_Mutation SNP A G uc001nnb.2 Hybrid_Cap... view
GOLGA5 p.L556F 14 93290938 93290938 HUCCT1_BILIARY_... 37 Missense_Mutation SNP G C uc001yaz.1 Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 HUCCT1_BILIARY_... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 HUCCT1_BILIARY_... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRK5 p.R455P 10 121207732 121207732 HUCCT1_BILIARY_... 37 Missense_Mutation SNP G C uc001led.2 GRK5_uc009xzh.2... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 HUCCT1_BILIARY_... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 HUCCT1_BILIARY_... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HIPK3 p.G892D 11 33370701 33370701 HUCCT1_BILIARY_... 37 Missense_Mutation SNP G A uc001mul.1 HIPK3_uc001mum.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 HUCCT1_BILIARY_... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 HUCCT1_BILIARY_... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
ILK 11 6630029 6630029 HUCCT1_BILIARY_... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ISG15 1 948846 948847 HUCCT1_BILIARY_... 37 5'UTR Ins - A rs33916361 uc001acj.3 Hybrid_Cap...
KIAA1409 p.A1140T 14 94079271 94079271 HUCCT1_BILIARY_... 37 Missense_Mutation SNP G A uc001ybv.1 KIAA1409_uc001y... Hybrid_Cap... view
KIAA1409 p.H2382Y 14 94160702 94160702 HUCCT1_BILIARY_... 37 Missense_Mutation SNP C T uc001ybv.1 KIAA1409_uc001y... Hybrid_Cap... view
KLK7 19 51480672 51480675 HUCCT1_BILIARY_... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KRAS p.G12D 12 25398284 25398284 HUCCT1_BILIARY_... 37 Missense_Mutation SNP C T uc001rgp.1 KRAS_uc001rgq.1... Hybrid_Cap... view
KSR2 p.P160L 12 118199236 118199236 HUCCT1_BILIARY_... 37 Missense_Mutation SNP G A uc001two.2 Hybrid_Cap... view
LAMA1 p.D2669N 18 6956724 6956724 HUCCT1_BILIARY_... 37 Missense_Mutation SNP C T uc002knm.2 LAMA1_uc002knk.... Hybrid_Cap... view
LATS2 13 21620223 21620223 HUCCT1_BILIARY_... 37 5'UTR Del A - rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LMNA 1 156109095 156109095 HUCCT1_BILIARY_... 37 3'UTR Del A - uc001fni.2 LMNA_uc001fnh.2... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 HUCCT1_BILIARY_... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K2 p.I200V 19 4101124 4101124 HUCCT1_BILIARY_... 37 Missense_Mutation SNP T C uc002lzk.2 MAP2K2_uc002lzj... Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 HUCCT1_BILIARY_... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 HUCCT1_BILIARY_... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K14 17 43341989 43341989 HUCCT1_BILIARY_... 37 3'UTR SNP G A uc002iiw.1 LOC100133991_uc... Hybrid_Cap... view
MAPK14 6 36076345 36076354 HUCCT1_BILIARY_... 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MAST1 p.S1286I 19 12984828 12984829 HUCCT1_BILIARY_... 37 Missense_Mutation DNP GC TT uc002mvm.2 Hybrid_Cap...
MYH1 p.F739Y 17 10408787 10408787 HUCCT1_BILIARY_... 37 Missense_Mutation SNP A T uc002gmo.2 Hybrid_Cap... view
MYLK3 p.M100T 16 46781807 46781807 HUCCT1_BILIARY_... 37 Missense_Mutation SNP A G uc002eei.3 MYLK3_uc010vge.... Hybrid_Cap... view
MYO18B p.T590M 22 26168377 26168377 HUCCT1_BILIARY_... 37 Missense_Mutation SNP C T uc003abz.1 MYO18B_uc003aca... Hybrid_Cap... view
NCAM1 11 112832276 112832277 HUCCT1_BILIARY_... 37 5'UTR Ins - G uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832307 112832308 HUCCT1_BILIARY_... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 HUCCT1_BILIARY_... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 HUCCT1_BILIARY_... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NPM1 5 170837734 170837734 HUCCT1_BILIARY_... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 HUCCT1_BILIARY_... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50384978 50384978 HUCCT1_BILIARY_... 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 HUCCT1_BILIARY_... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NRBP2 8 144917697 144917697 HUCCT1_BILIARY_... 37 3'UTR SNP G A uc011lkt.1 NRBP2_uc003yzv.... Hybrid_Cap... view
NUP214 9 134067556 134067557 HUCCT1_BILIARY_... 37 Intron Ins - T rs66652901 uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
NUP98 11 3697276 3697276 HUCCT1_BILIARY_... 37 3'UTR SNP G A uc001lyh.2 NUP98_uc001lyi.... Hybrid_Cap... view
PAX3 2 223066017 223066018 HUCCT1_BILIARY_... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158408 223158408 HUCCT1_BILIARY_... 37 Intron SNP C T uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap... view
PAX3 2 223158653 223158653 HUCCT1_BILIARY_... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP 1 144863620 144863620 HUCCT1_BILIARY_... 37 Intron SNP A G uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PMS1 2 190670539 190670540 HUCCT1_BILIARY_... 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRKCA 17 64298959 64298960 HUCCT1_BILIARY_... 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKCE 2 45879231 45879231 HUCCT1_BILIARY_... 37 5'UTR SNP G A uc002rut.2 Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 HUCCT1_BILIARY_... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PXDN p.D911N 2 1652821 1652822 HUCCT1_BILIARY_... 37 Missense_Mutation DNP CT TG rs1863135 uc002qxa.2 Hybrid_Cap...
RB1 p.A106E 13 48916787 48916787 HUCCT1_BILIARY_... 37 Missense_Mutation SNP C A uc001vcb.2 RB1_uc010acs.1_... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 HUCCT1_BILIARY_... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 HUCCT1_BILIARY_... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
RPS6KL1 p.V80M 14 75388007 75388007 HUCCT1_BILIARY_... 37 Missense_Mutation SNP C T uc010tux.1 RPS6KL1_uc001xq... Hybrid_Cap... view
SPEN 1 16266005 16266005 HUCCT1_BILIARY_... 37 3'UTR SNP A C uc001axk.1 SPEN_uc010obp.1... Hybrid_Cap... view
SRC p.P307R 20 36028578 36028578 HUCCT1_BILIARY_... 37 Missense_Mutation SNP C G uc002xgx.2 SRC_uc002xgy.2_... Hybrid_Cap... view
SSU72 1 1477324 1477325 HUCCT1_BILIARY_... 37 3'UTR Del CA - rs72502747 uc001agd.2 C1orf70_uc009vk... Hybrid_Cap...
STK25 2 242435659 242435662 HUCCT1_BILIARY_... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 HUCCT1_BILIARY_... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TAOK3 12 118588761 118588762 HUCCT1_BILIARY_... 37 3'UTR Ins - T rs116872184 uc001twx.2 TAOK3_uc001twv.... Hybrid_Cap...
TEC 4 48139307 48139310 HUCCT1_BILIARY_... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TGFB2 1 218519928 218519929 HUCCT1_BILIARY_... 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
THBS3 p.G393G 1 155171358 155171358 HUCCT1_BILIARY_... 37 Silent SNP G C uc001fix.2 RAG1AP1_uc010pe... Hybrid_Cap... view
TLK1 2 171850178 171850179 HUCCT1_BILIARY_... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 HUCCT1_BILIARY_... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TP53 p.R175H 17 7578406 7578406 HUCCT1_BILIARY_... 37 Missense_Mutation SNP C T rs28934578 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 HUCCT1_BILIARY_... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIB3 p.P142R 20 371983 371983 HUCCT1_BILIARY_... 37 Missense_Mutation SNP C G rs70961720 uc002wdn.2 TRIB3_uc002wdm.... Hybrid_Cap... view
TRIM36 p.S324C 5 114473210 114473210 HUCCT1_BILIARY_... 37 Missense_Mutation SNP G C uc003kqs.2 TRIM36_uc011cwc... Hybrid_Cap... view
TTN 2 179391639 179391640 HUCCT1_BILIARY_... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.R25126C 2 179427779 179427779 HUCCT1_BILIARY_... 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.R24284C 2 179430305 179430306 HUCCT1_BILIARY_... 37 Missense_Mutation DNP GG AA uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.H22497R 2 179435665 179435665 HUCCT1_BILIARY_... 37 Missense_Mutation SNP T C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.G20477S 2 179441929 179441929 HUCCT1_BILIARY_... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN 2 179613743 179613743 HUCCT1_BILIARY_... 37 Intron SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TYK2 19 10461491 10461491 HUCCT1_BILIARY_... 37 3'UTR SNP G A rs56172150 uc002moc.3 TYK2_uc010dxe.2... Hybrid_Cap... view
UBE3B p.N201S 12 109927781 109927781 HUCCT1_BILIARY_... 37 Missense_Mutation SNP A G uc001top.2 UBE3B_uc001toq.... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 HUCCT1_BILIARY_... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
YAP1 11 102100827 102100827 HUCCT1_BILIARY_... 37 3'UTR SNP G C uc001pgt.2 YAP1_uc001pgs.2... Hybrid_Cap... view
ZFYVE9 p.N401D 1 52704290 52704290 HUCCT1_BILIARY_... 37 Missense_Mutation SNP A G uc001cto.2 ZFYVE9_uc001ctn... Hybrid_Cap... view
ZMYM2 p.S287A 13 20577001 20577001 HUCCT1_BILIARY_... 37 Missense_Mutation SNP T G uc001umr.2 ZMYM2_uc001umq.... Hybrid_Cap... view