Annotation Summary for Cell Line: SCaBER  

Cell line primary name: SCaBER
Cell line aliases:
Gender: M
Site Primary: urinary_tract
Histology: carcinoma
Hist Subtype1: transitional_cell_carcinoma
Notes:
Source: ATCC
Expression arrays: NIECE_p_NCLE_RNA3_HG-U133_Plus_2_F03_296114
SNP arrays: ARLES_p_NCLE_DNAAffy2_S_GenomeWideSNP_6_B07_256038
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SCaBER

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 24211994 24211997 SCABER_URINARY_... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADCK1 14 78390632 78390637 SCABER_URINARY_... 37 Intron Del AAACT... - rs78274857;rs74969652 uc001xui.2 ADCK1_uc010tvo.... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 SCABER_URINARY_... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 SCABER_URINARY_... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347609 113347610 SCABER_URINARY_... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ARFGEF1 8 68111130 68111130 SCABER_URINARY_... 37 3'UTR SNP C G uc003xxo.1 ARFGEF1_uc003xx... Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 SCABER_URINARY_... 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
AURKC 19 57742494 57742507 SCABER_URINARY_... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
AXL 19 41749748 41749748 SCABER_URINARY_... 37 Intron SNP C T uc010ehj.2 CYP2F1_uc010xvw... Hybrid_Cap... view
BCR 22 23631813 23631814 SCABER_URINARY_... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BRSK2 11 1481963 1481963 SCABER_URINARY_... 37 3'UTR Del C - uc001ltm.2 BRSK2_uc001lti.... Hybrid_Cap...
C15ORF55 p.P843H 15 34648737 34648737 SCABER_URINARY_... 37 Missense_Mutation SNP C A uc010ucc.1 C15orf55_uc010u... Hybrid_Cap... view
CEP110 9 123939686 123939687 SCABER_URINARY_... 37 3'UTR Del AT - uc004bkx.1 CEP110_uc004blb... Hybrid_Cap...
CIT p.V903_splice 12 120190054 120190055 SCABER_URINARY_... 37 Splice_Site_Ins Ins - GA uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 SCABER_URINARY_... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
DCLK3 p.V628L 3 36756884 36756884 SCABER_URINARY_... 37 Missense_Mutation SNP C G uc003cgi.2 Hybrid_Cap... view
DGKB p.D759H 7 14216496 14216496 SCABER_URINARY_... 37 Missense_Mutation SNP C G uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap... view
DNAH8 6 38952246 38952247 SCABER_URINARY_... 37 Intron Ins - CA rs34819199 uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap...
DYRK1A 21 38884966 38884967 SCABER_URINARY_... 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
DYRK1A p.E6Q 21 38844991 38844991 SCABER_URINARY_... 37 Missense_Mutation SNP G C uc002ywk.2 DYRK1A_uc002ywg... Hybrid_Cap... view
EDN1 6 12296150 12296151 SCABER_URINARY_... 37 Intron Ins - T rs66570617 uc003nae.3 EDN1_uc003nad.2... Hybrid_Cap...
EPHA5 p.A958T 4 66197830 66197830 SCABER_URINARY_... 37 Missense_Mutation SNP C T uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap... view
EPHB6 7 142568771 142568771 SCABER_URINARY_... 37 3'UTR Del C - uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap...
ETV1 7 14028708 14028708 SCABER_URINARY_... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FBN2 5 127595046 127595048 SCABER_URINARY_... 37 3'UTR Del TTA - uc003kuu.2 Hybrid_Cap...
FGFR1OP 6 167453519 167453520 SCABER_URINARY_... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR2 10 123353402 123353402 SCABER_URINARY_... 37 5'UTR SNP C G uc010qtj.1 FGFR2_uc010qtg.... Hybrid_Cap... view
FGFR3 4 1809128 1809129 SCABER_URINARY_... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 SCABER_URINARY_... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNA X 153577115 153577116 SCABER_URINARY_... 37 3'UTR Ins - G uc004fkk.2 FLNA_uc004fki.2... Hybrid_Cap...
GLG1 16 74486992 74486992 SCABER_URINARY_... 37 Intron SNP G C uc002fcx.2 GLG1_uc002fcy.3... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 SCABER_URINARY_... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRAMD1B 11 123396719 123396719 SCABER_URINARY_... 37 5'UTR SNP C T rs113567469 uc001pyw.2 GRAMD1B_uc001py... Hybrid_Cap... view
GRIA3 X 122318386 122318387 SCABER_URINARY_... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 SCABER_URINARY_... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HNF1B p.P60A 17 36104698 36104698 SCABER_URINARY_... 37 Missense_Mutation SNP G C uc002hok.3 HNF1B_uc010wdi.... Hybrid_Cap... view
HSP90B1 12 104341645 104341648 SCABER_URINARY_... 37 3'UTR Del ACTG - rs2307842 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
ICK 6 52880876 52880876 SCABER_URINARY_... 37 Intron Del A - uc003pbh.2 ICK_uc003pbi.2_... Hybrid_Cap...
ILK p.M429I 11 6631770 6631770 SCABER_URINARY_... 37 Missense_Mutation SNP G T uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 SCABER_URINARY_... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAZF1 7 28031621 28031621 SCABER_URINARY_... 37 Intron SNP C T uc003szn.2 JAZF1_uc003szm.... Hybrid_Cap... view
KIAA1549 p.Q1164K 7 138589798 138589798 SCABER_URINARY_... 37 Missense_Mutation SNP G T uc011kql.1 KIAA1549_uc003v... Hybrid_Cap... view
LRP1B 2 140990686 140990686 SCABER_URINARY_... 37 3'UTR SNP A C uc002tvj.1 Hybrid_Cap... view
LRP1B p.I4064F 2 141092055 141092055 SCABER_URINARY_... 37 Missense_Mutation SNP T A uc002tvj.1 Hybrid_Cap... view
LRP1B p.D3844_splice 2 141110642 141110642 SCABER_URINARY_... 37 Splice_Site_SNP SNP C G uc002tvj.1 Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 SCABER_URINARY_... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 SCABER_URINARY_... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 SCABER_URINARY_... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP4K2 p.S818N 11 64557019 64557019 SCABER_URINARY_... 37 Missense_Mutation SNP C T uc001obh.2 MAP4K2_uc001obg... Hybrid_Cap... view
MCL1 1 150549800 150549801 SCABER_URINARY_... 37 3'UTR Ins - TGGTGG uc001euz.2 MCL1_uc010pch.1... Hybrid_Cap...
MELK p.L64fs 9 36589578 36589579 SCABER_URINARY_... 37 Frame_Shift_Ins Ins - T uc003zzn.2 MELK_uc011lpm.1... Hybrid_Cap...
MLLT4 p.R1290fs 6 168351928 168351928 SCABER_URINARY_... 37 Frame_Shift_Del Del A - uc003qwd.2 MLLT4_uc003qwb.... Hybrid_Cap...
MRE11A p.M294V 11 94203774 94203774 SCABER_URINARY_... 37 Missense_Mutation SNP T C uc001peu.2 MRE11A_uc001pev... Hybrid_Cap... view
MTMR11 1 149900592 149900592 SCABER_URINARY_... 37 3'UTR SNP A G uc001etl.3 SF3B4_uc001eti.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 SCABER_URINARY_... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SCABER_URINARY_... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279864 46279866 SCABER_URINARY_... 37 In_Frame_Del Del CAA - rs1132443;rs28529067 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NFKB1 p.D917_splice 4 103534740 103534741 SCABER_URINARY_... 37 Splice_Site_Ins Ins - A rs35795162 uc011cep.1 NFKB1_uc011ceq.... Hybrid_Cap...
NLRP10 p.K625del 11 7981284 7981286 SCABER_URINARY_... 37 In_Frame_Del Del CTT - uc001mfv.1 Hybrid_Cap...
NOTCH4 p.15_16LL>L 6 32191659 32191661 SCABER_URINARY_... 37 In_Frame_Del Del AGC - uc003obb.2 NOTCH4_uc011dpu... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 SCABER_URINARY_... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUMA1 11 71718530 71718530 SCABER_URINARY_... 37 Intron Del T - uc001orl.1 NUMA1_uc001orj.... Hybrid_Cap...
NUP214 9 134067556 134067557 SCABER_URINARY_... 37 Intron Ins - T rs66652901 uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
NUP214 p.G1983W 9 134103591 134103591 SCABER_URINARY_... 37 Missense_Mutation SNP G T uc004cag.2 NUP214_uc004cah... Hybrid_Cap... view
PAX3 2 223158653 223158653 SCABER_URINARY_... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.Q1665fs 1 144873963 144873963 SCABER_URINARY_... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDK2 17 48187586 48187586 SCABER_URINARY_... 37 3'UTR SNP C T uc002iqc.2 PDK2_uc002iqb.2... Hybrid_Cap... view
PGR 11 100933598 100933599 SCABER_URINARY_... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 SCABER_URINARY_... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3R1 5 67584340 67584341 SCABER_URINARY_... 37 Intron Ins - CGAGC rs72310992 uc003jva.2 PIK3R1_uc003jvb... Hybrid_Cap...
PNCK X 152938180 152938183 SCABER_URINARY_... 37 Intron Del GGAA - uc011myu.1 PNCK_uc011myt.1... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 SCABER_URINARY_... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKDC p.Y962C 8 48825019 48825019 SCABER_URINARY_... 37 Missense_Mutation SNP T C uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap... view
PRPF4B p.R113K 6 4032089 4032089 SCABER_URINARY_... 37 Missense_Mutation SNP G A uc003mvv.2 PRPF4B_uc011dhv... Hybrid_Cap... view
RARG 12 53607131 53607132 SCABER_URINARY_... 37 Intron Ins - TT uc001sce.2 RARG_uc001scd.2... Hybrid_Cap...
RASGRF1 15 79277150 79277151 SCABER_URINARY_... 37 Intron Ins - C rs67045840;rs77640668 uc002beq.2 RASGRF1_uc002be... Hybrid_Cap...
RASGRF1 15 79383035 79383035 SCABER_URINARY_... 37 5'UTR SNP C T uc002beq.2 RASGRF1_uc002be... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 SCABER_URINARY_... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RELA 11 65421777 65421777 SCABER_URINARY_... 37 3'UTR SNP A C uc010ron.1 RELA_uc001ofg.2... Hybrid_Cap... view
SIX4 p.K239R 14 61190077 61190077 SCABER_URINARY_... 37 Missense_Mutation SNP T C uc001xfc.2 SIX4_uc010app.1... Hybrid_Cap... view
SPTAN1 p.D1442H 9 131370308 131370308 SCABER_URINARY_... 37 Missense_Mutation SNP G C uc004bvm.3 SPTAN1_uc004bvl... Hybrid_Cap... view
STAT1 2 191840353 191840353 SCABER_URINARY_... 37 Intron Del T - uc002usj.2 STAT1_uc010fse.... Hybrid_Cap...
STK19 p.I60I 6 31939953 31939953 SCABER_URINARY_... 37 Silent SNP C T uc003nyv.2 DOM3Z_uc003nyo.... Hybrid_Cap... view
TAOK3 12 118588761 118588762 SCABER_URINARY_... 37 3'UTR Ins - TT rs116872184 uc001twx.2 TAOK3_uc001twv.... Hybrid_Cap...
TCF21 6 134210497 134210498 SCABER_URINARY_... 37 5'UTR Ins - TC rs35199378 uc003qei.3 TCF21_uc003qej.... Hybrid_Cap...
TCF3 19 1611583 1611583 SCABER_URINARY_... 37 3'UTR SNP G C uc002ltq.2 TCF3_uc002ltn.2... Hybrid_Cap... view
TGFB2 1 218519928 218519929 SCABER_URINARY_... 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TGFBR2 p.E150fs 3 30691871 30691872 SCABER_URINARY_... 37 Frame_Shift_Ins Ins - A rs79375991 uc003cen.2 TGFBR2_uc003ceo... Hybrid_Cap...
TLK1 2 171850195 171850196 SCABER_URINARY_... 37 3'UTR Ins - AG uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 SCABER_URINARY_... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TP53 p.R110L 17 7579358 7579358 SCABER_URINARY_... 37 Missense_Mutation SNP C A rs11540654 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 p.S154C 3 189526197 189526197 SCABER_URINARY_... 37 Missense_Mutation SNP C G uc003fry.2 TP63_uc003frx.2... Hybrid_Cap... view
TRIM24 7 138269766 138269767 SCABER_URINARY_... 37 3'UTR Ins - AAC uc003vuc.2 TRIM24_uc003vub... Hybrid_Cap...
TRIM33 1 114940211 114940212 SCABER_URINARY_... 37 3'UTR Ins - T rs66490349 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRIP11 p.Q14P 14 92505989 92505989 SCABER_URINARY_... 37 Missense_Mutation SNP T G uc001xzy.2 TRIP11_uc001xzz... Hybrid_Cap... view
TRPM8 p.V263M 2 234854587 234854587 SCABER_URINARY_... 37 Missense_Mutation SNP G A uc002vvh.2 TRPM8_uc010fyj.... Hybrid_Cap... view
TSSK3 1 32828162 32828163 SCABER_URINARY_... 37 5'UTR Del AG - uc001bvf.2 Hybrid_Cap...
TSSK4 14 24676276 24676276 SCABER_URINARY_... 37 Intron SNP C A uc001wnh.2 TM9SF1_uc010tob... Hybrid_Cap... view
TSSK4 p.T338del 14 24677344 24677346 SCABER_URINARY_... 37 In_Frame_Del Del ACG - rs79966000;rs56356156 uc001wnh.2 TM9SF1_uc010tob... Hybrid_Cap...
TTBK1 p.E771del 6 43250726 43250728 SCABER_URINARY_... 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN p.A26544T 2 179422747 179422747 SCABER_URINARY_... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.C17467Y 2 179456442 179456442 SCABER_URINARY_... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.R1453S 2 179642552 179642552 SCABER_URINARY_... 37 Missense_Mutation SNP T A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 SCABER_URINARY_... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WNK4 p.R414S 17 40937184 40937184 SCABER_URINARY_... 37 Missense_Mutation SNP C A uc002ibj.2 WNK4_uc010wgx.1... Hybrid_Cap... view
XPC 3 14187340 14187340 SCABER_URINARY_... 37 3'UTR SNP G C uc011ave.1 XPC_uc011avf.1_... Hybrid_Cap... view
ZNF608 p.A492S 5 123984603 123984603 SCABER_URINARY_... 37 Missense_Mutation SNP C A uc003ktq.1 ZNF608_uc003ktr... Hybrid_Cap... view