Annotation Summary for Cell Line: A101D  

Cell line primary name: A101D
Cell line aliases:
Gender: M
Site Primary: skin
Histology: malignant_melanoma
Hist Subtype1: NS
Notes: Isolated from the same donor tissue as Hs 294T
Source: ATCC
Expression arrays: MAKER_p_NCLE_RNA7_HG-U133_Plus_2_F07_454690
SNP arrays: BOWER_p_NCLE_DNAAffy8_GenomeWideSNP_6_F07_464698
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in A101D

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 A101D_SKIN 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM17 2 9630176 9630176 A101D_SKIN 37 3'UTR Del A - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM17 2 9630245 9630245 A101D_SKIN 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 A101D_SKIN 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 A101D_SKIN 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ATP13A5 p.W57* 3 193081963 193081963 A101D_SKIN 37 Nonsense_Mutation SNP C T uc011bsq.1 Hybrid_Cap... view
BRAF p.V600E 7 140453136 140453136 A101D_SKIN 37 Missense_Mutation SNP A T rs113488022 uc003vwc.3 Hybrid_Cap... view
CACNB2 10 18828721 18828722 A101D_SKIN 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CASK X 41379607 41379607 A101D_SKIN 37 3'UTR SNP C T uc004dfl.3 CASK_uc004dfj.3... Hybrid_Cap... view
CCNG1 p.A118T 5 162868171 162868171 A101D_SKIN 37 Missense_Mutation SNP G A uc003lzb.2 CCNG1_uc011dek.... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 A101D_SKIN 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 A101D_SKIN 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339681 1339686 A101D_SKIN 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 A101D_SKIN 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CTBP2 p.K974fs 10 126678123 126678123 A101D_SKIN 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
DACH1 13 72014625 72014626 A101D_SKIN 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
ERCC2 19 45854768 45854768 A101D_SKIN 37 3'UTR Del G - uc002pbj.2 KLC3_uc002pbf.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 A101D_SKIN 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLI1 11 128638217 128638217 A101D_SKIN 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNA p.T1603T X 153585938 153585938 A101D_SKIN 37 Silent SNP C A uc004fkk.2 FLNA_uc011mzn.1... Hybrid_Cap... view
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 A101D_SKIN 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FMN2 p.P975S 1 240371023 240371023 A101D_SKIN 37 Missense_Mutation SNP C T uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap... view
FMO4 p.E257fs 1 171301990 171301990 A101D_SKIN 37 Frame_Shift_Del Del A - uc001gho.2 Hybrid_Cap...
FN1 p.I1739S 2 216245752 216245752 A101D_SKIN 37 Missense_Mutation SNP A C uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap... view
FOXP1 3 71008341 71008342 A101D_SKIN 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 A101D_SKIN 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 A101D_SKIN 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 A101D_SKIN 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HNF1A 12 121434630 121434631 A101D_SKIN 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 A101D_SKIN 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INPP5D p.H753Y 2 234093149 234093149 A101D_SKIN 37 Missense_Mutation SNP C T uc010zmo.1 INPP5D_uc010zmp... Hybrid_Cap... view
KLK7 19 51480672 51480675 A101D_SKIN 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KLK7 p.K197N 19 51483059 51483059 A101D_SKIN 37 Missense_Mutation SNP C A uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap... view
MAF 16 79628537 79628537 A101D_SKIN 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 A101D_SKIN 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 A101D_SKIN 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 A101D_SKIN 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKBP1 15 42111753 42111754 A101D_SKIN 37 Intron Ins - C rs3034891 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MAST4 p.E2267K 5 66462373 66462373 A101D_SKIN 37 Missense_Mutation SNP G A uc003jut.1 MAST4_uc003juw.... Hybrid_Cap... view
MYLK 3 123332876 123332876 A101D_SKIN 37 3'UTR Del T - rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
MYLK p.E1430_splice 3 123368043 123368044 A101D_SKIN 37 Splice_Site_Ins Ins - G rs41431347 uc003ego.2 MYLK_uc010hrr.2... Hybrid_Cap...
NCAM1 11 112832307 112832308 A101D_SKIN 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 A101D_SKIN 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 A101D_SKIN 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NIPBL p.T2731S 5 37064771 37064771 A101D_SKIN 37 Missense_Mutation SNP C G uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 A101D_SKIN 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAX3 2 223158653 223158653 A101D_SKIN 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.Q1665fs 1 144873963 144873963 A101D_SKIN 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 A101D_SKIN 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDGFRA 4 55130162 55130162 A101D_SKIN 37 Intron Del T - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PHIP p.T667I 6 79707988 79707988 A101D_SKIN 37 Missense_Mutation SNP G A uc003pir.2 PHIP_uc011dyp.1... Hybrid_Cap... view
PI4KB p.E182K 1 151288450 151288450 A101D_SKIN 37 Missense_Mutation SNP C T uc001exr.2 PI4KB_uc001exs.... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 A101D_SKIN 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3C2G 12 18800990 18800990 A101D_SKIN 37 3'UTR Del A - rs16914368 uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PPP2CA 5 133533374 133533374 A101D_SKIN 37 3'UTR SNP T G uc003kze.2 Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 A101D_SKIN 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKG1 10 52751071 52751079 A101D_SKIN 37 5'UTR Del GCCGC... - uc001jjm.2 PRKG1_uc010qhp.... Hybrid_Cap...
RAD21 p.L229S 8 117869508 117869508 A101D_SKIN 37 Missense_Mutation SNP A G uc003yod.2 Hybrid_Cap... view
RBBP8 18 20516758 20516758 A101D_SKIN 37 5'UTR SNP T C uc002kua.2 RBBP8_uc002ktw.... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 A101D_SKIN 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
SLC22A3 p.G442R 6 160863828 160863828 A101D_SKIN 37 Missense_Mutation SNP G C uc003qti.2 SLC22A3_uc011ef... Hybrid_Cap... view
SLC6A8 X 152957656 152957657 A101D_SKIN 37 Intron Ins - A uc004fib.3 SLC6A8_uc004fic... Hybrid_Cap...
SORL1 p.D1405N 11 121460883 121460883 A101D_SKIN 37 Missense_Mutation SNP G A uc001pxx.2 SORL1_uc010rzp.... Hybrid_Cap... view
TEC 4 48139307 48139310 A101D_SKIN 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TP63 3 189507518 189507519 A101D_SKIN 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRPM7 15 50853830 50853830 A101D_SKIN 37 3'UTR SNP T C uc001zyt.3 TRPM7_uc001zyr.... Hybrid_Cap... view
TTN p.L21404fs 2 179438935 179438944 A101D_SKIN 37 Frame_Shift_Del Del TTGGC... - uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.W7540* 2 179579150 179579150 A101D_SKIN 37 Nonsense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.D6524N 2 179585187 179585187 A101D_SKIN 37 Missense_Mutation SNP C T rs72648973 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 A101D_SKIN 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZAP70 p.V470F 2 98354053 98354054 A101D_SKIN 37 Missense_Mutation DNP GG AT uc002syd.1 ZAP70_uc002sye.... Hybrid_Cap...
ZNF384 p.Q483* 12 6777167 6777167 A101D_SKIN 37 Nonsense_Mutation SNP G A uc010sfh.1 ZNF384_uc001qpz... Hybrid_Cap... view