Annotation Summary for Cell Line: KARPAS-620  

Cell line primary name: KARPAS-620
Cell line aliases:
Gender: F
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: plasma_cell_myeloma
Notes:
Source: DSMZ
Expression arrays: WATCH_p_NCLE_RNA8_HG-U133_Plus_2_F09_474650
SNP arrays: MISTS_p_NCLE_DNAAffy11_GenomeWideSNP_6_E12_578358
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in KARPAS-620

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ABCA3 p.R605Q 16 2348469 2348469 KARPAS620_HAEMA... 37 Missense_Mutation SNP C T uc002cpy.1 ABCA3_uc010bsk.... Hybrid_Cap... view
ACACA 17 35766564 35766564 KARPAS620_HAEMA... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM17 2 9630245 9630245 KARPAS620_HAEMA... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 KARPAS620_HAEMA... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 KARPAS620_HAEMA... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK1 4 113347609 113347610 KARPAS620_HAEMA... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ARID1A 1 27107263 27107264 KARPAS620_HAEMA... 37 3'UTR Ins - C rs3841356 uc001bmv.1 ARID1A_uc001bmu... Hybrid_Cap...
ASTN1 p.C652S 1 176918421 176918421 KARPAS620_HAEMA... 37 Missense_Mutation SNP A T uc001glc.2 ASTN1_uc001glb.... Hybrid_Cap... view
AXL p.R344W 19 41744410 41744410 KARPAS620_HAEMA... 37 Missense_Mutation SNP C T uc010ehj.2 CYP2F1_uc010xvw... Hybrid_Cap... view
BCR 22 23631813 23631814 KARPAS620_HAEMA... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BCR 22 23632777 23632778 KARPAS620_HAEMA... 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BIRC6 p.G1373R 2 32667402 32667402 KARPAS620_HAEMA... 37 Missense_Mutation SNP G A uc010ezu.2 Hybrid_Cap... view
CABC1 1 227171585 227171585 KARPAS620_HAEMA... 37 Intron Del T - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CABC1 1 227171736 227171737 KARPAS620_HAEMA... 37 Intron Ins - T rs1574184 uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CAMK2A 5 149602223 149602224 KARPAS620_HAEMA... 37 3'UTR Del AC - uc003lrt.2 CAMK2A_uc003lrs... Hybrid_Cap...
CDC5L p.R530H 6 44393859 44393859 KARPAS620_HAEMA... 37 Missense_Mutation SNP G A uc003oxl.2 Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 KARPAS620_HAEMA... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
COL3A1 p.R683C 2 189864035 189864035 KARPAS620_HAEMA... 37 Missense_Mutation SNP C T uc002uqj.1 Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 KARPAS620_HAEMA... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CXCL12 10 44873992 44873993 KARPAS620_HAEMA... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
EP300 p.M514V 22 41531828 41531828 KARPAS620_HAEMA... 37 Missense_Mutation SNP A G uc003azl.3 Hybrid_Cap... view
EPHA6 3 97367230 97367231 KARPAS620_HAEMA... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ERCC3 p.L100F 2 128050357 128050357 KARPAS620_HAEMA... 37 Missense_Mutation SNP C A uc002toh.1 ERCC3_uc002toe.... Hybrid_Cap... view
ETV1 7 14028708 14028708 KARPAS620_HAEMA... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FBN1 p.C876F 15 48787370 48787370 KARPAS620_HAEMA... 37 Missense_Mutation SNP C A uc001zwx.1 Hybrid_Cap... view
FGFR3 4 1809128 1809129 KARPAS620_HAEMA... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 KARPAS620_HAEMA... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT4 5 180035183 180035185 KARPAS620_HAEMA... 37 Intron Del AGT - uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap...
FN1 2 216244182 216244185 KARPAS620_HAEMA... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FSCB 14 44973649 44973649 KARPAS620_HAEMA... 37 3'UTR SNP C T uc001wvn.2 Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 KARPAS620_HAEMA... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 KARPAS620_HAEMA... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 KARPAS620_HAEMA... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HNF1A 12 121434630 121434631 KARPAS620_HAEMA... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 KARPAS620_HAEMA... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
IRS1 p.R1089G 2 227660190 227660190 KARPAS620_HAEMA... 37 Missense_Mutation SNP G C uc002voh.3 Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 KARPAS620_HAEMA... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480601 51480601 KARPAS620_HAEMA... 37 3'UTR SNP G A uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap... view
KLK7 19 51480672 51480675 KARPAS620_HAEMA... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KRAS p.G12D 12 25398284 25398284 KARPAS620_HAEMA... 37 Missense_Mutation SNP C T uc001rgp.1 KRAS_uc001rgq.1... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 KARPAS620_HAEMA... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 KARPAS620_HAEMA... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 KARPAS620_HAEMA... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKBP1 15 42111746 42111746 KARPAS620_HAEMA... 37 Intron Del G - uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MAPKBP1 15 42111753 42111754 KARPAS620_HAEMA... 37 Intron Ins - C rs3034891 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MARK1 p.R153I 1 220777442 220777442 KARPAS620_HAEMA... 37 Missense_Mutation SNP G T uc009xdw.2 MARK1_uc001hmn.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 KARPAS620_HAEMA... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 KARPAS620_HAEMA... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA1 p.S9F 2 24881572 24881572 KARPAS620_HAEMA... 37 Missense_Mutation SNP C T uc002rfk.2 NCOA1_uc010eye.... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 KARPAS620_HAEMA... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NPAT p.V887I 11 108043052 108043052 KARPAS620_HAEMA... 37 Missense_Mutation SNP C T uc001pjz.3 NPAT_uc010rvv.1... Hybrid_Cap... view
NPR1 1 153665919 153665920 KARPAS620_HAEMA... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 KARPAS620_HAEMA... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAX3 2 223158653 223158653 KARPAS620_HAEMA... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.Q1665fs 1 144873963 144873963 KARPAS620_HAEMA... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 KARPAS620_HAEMA... 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PICALM p.T167S 11 85725959 85725959 KARPAS620_HAEMA... 37 Missense_Mutation SNP G C uc001pbm.2 PICALM_uc001pbl... Hybrid_Cap... view
PIK3C2G 12 18434940 18434940 KARPAS620_HAEMA... 37 5'UTR SNP A C uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap... view
PNCK X 152938410 152938411 KARPAS620_HAEMA... 37 Intron Del AC - uc011myu.1 PNCK_uc011myt.1... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 KARPAS620_HAEMA... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTPRU p.V996_splice 1 29638154 29638154 KARPAS620_HAEMA... 37 Splice_Site_SNP SNP G A uc001bru.2 PTPRU_uc001brv.... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 KARPAS620_HAEMA... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RPS6KA5 14 91360733 91360734 KARPAS620_HAEMA... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
STK31 7 23872024 23872025 KARPAS620_HAEMA... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TAF1L p.S203N 9 32634970 32634970 KARPAS620_HAEMA... 37 Missense_Mutation SNP C T uc003zrg.1 Hybrid_Cap... view
TP53 p.C135Y 17 7578526 7578526 KARPAS620_HAEMA... 37 Missense_Mutation SNP C T uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP53BP1 p.V1492L 15 43712710 43712710 KARPAS620_HAEMA... 37 Missense_Mutation SNP C A uc001zrr.3 TP53BP1_uc010ud... Hybrid_Cap... view
TP63 3 189507518 189507519 KARPAS620_HAEMA... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRRAP p.T2573M 7 98569468 98569468 KARPAS620_HAEMA... 37 Missense_Mutation SNP C T rs76587346 uc003upp.2 TRRAP_uc011kis.... Hybrid_Cap... view
TTN p.S25520N 2 179426596 179426596 KARPAS620_HAEMA... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 KARPAS620_HAEMA... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WNK4 17 40945874 40945875 KARPAS620_HAEMA... 37 Intron Ins - T uc002ibj.2 WNK4_uc010wgx.1... Hybrid_Cap...