Annotation Summary for Cell Line: RH-41  

Cell line primary name: RH-41
Cell line aliases:
Gender: F
Site Primary: soft_tissue
Histology: rhabdomyosarcoma
Hist Subtype1: alveolar
Notes:
Source: DSMZ
Expression arrays: SILOS_p_NCLE_RNA9_HG-U133_Plus_2_E05_523510
SNP arrays: VAULT_p_NCLE_DNAAffy14_GenomeWideSNP_6_F11_698574
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in RH-41

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ACACA 17 35766564 35766564 RH41_SOFT_TISSU... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAMTS20 p.A327D 12 43886404 43886404 RH41_SOFT_TISSU... 37 Missense_Mutation SNP G T uc010skx.1 Hybrid_Cap... view
ADAMTSL3 p.L476M 15 84561599 84561599 RH41_SOFT_TISSU... 37 Missense_Mutation SNP C A uc002bjz.3 ADAMTSL3_uc010b... Hybrid_Cap... view
AIM1 p.I735S 6 106968511 106968511 RH41_SOFT_TISSU... 37 Missense_Mutation SNP T G uc003prh.2 Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 RH41_SOFT_TISSU... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP4 p.N735T X 49957160 49957160 RH41_SOFT_TISSU... 37 Missense_Mutation SNP T G rs61751433 uc004dow.1 AKAP4_uc004dov.... Hybrid_Cap... view
AKAP9 p.1335_1336insQ 7 91652178 91652179 RH41_SOFT_TISSU... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347609 113347610 RH41_SOFT_TISSU... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.1388_1389FF>F 18 56203253 56203255 RH41_SOFT_TISSU... 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
APC p.M526L 5 112163653 112163653 RH41_SOFT_TISSU... 37 Missense_Mutation SNP A T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
AURKC 19 57742494 57742507 RH41_SOFT_TISSU... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCR 22 23631813 23631814 RH41_SOFT_TISSU... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
CABC1 1 227171736 227171737 RH41_SOFT_TISSU... 37 Intron Ins - T rs1574184 uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CDC42BPB p.R570Q 14 103438431 103438431 RH41_SOFT_TISSU... 37 Missense_Mutation SNP C T uc001ymi.1 Hybrid_Cap... view
CEP110 p.L1491L 9 123919855 123919855 RH41_SOFT_TISSU... 37 Silent SNP C T uc004bkx.1 CEP110_uc004bla... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 RH41_SOFT_TISSU... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 RH41_SOFT_TISSU... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
COL14A1 p.Y1090* 8 121290406 121290406 RH41_SOFT_TISSU... 37 Nonsense_Mutation SNP C A uc003yox.2 COL14A1_uc003yo... Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 RH41_SOFT_TISSU... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
EWSR1 p.D352G 22 29688153 29688153 RH41_SOFT_TISSU... 37 Missense_Mutation SNP A G uc003aev.2 EWSR1_uc003aet.... Hybrid_Cap... view
FAM132A 1 1177919 1177919 RH41_SOFT_TISSU... 37 3'UTR Del T - uc001adl.1 Hybrid_Cap...
FGFR1OP 6 167453519 167453520 RH41_SOFT_TISSU... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 RH41_SOFT_TISSU... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 RH41_SOFT_TISSU... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 RH41_SOFT_TISSU... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FYN p.E419fs 6 112015593 112015596 RH41_SOFT_TISSU... 37 Frame_Shift_Del Del ACTC - uc003pvj.2 FYN_uc003pvi.2_... Hybrid_Cap...
GLI3 p.I1504V 7 42004161 42004161 RH41_SOFT_TISSU... 37 Missense_Mutation SNP T C uc011kbh.1 GLI3_uc011kbg.1... Hybrid_Cap... view
GLYAT p.K81E 11 58480308 58480308 RH41_SOFT_TISSU... 37 Missense_Mutation SNP T C uc001nnb.2 GLYAT_uc001nnc.... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 RH41_SOFT_TISSU... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 RH41_SOFT_TISSU... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 RH41_SOFT_TISSU... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HECW1 p.R1502fs 7 43591930 43591930 RH41_SOFT_TISSU... 37 Frame_Shift_Del Del G - uc003tid.1 HECW1_uc011kbi.... Hybrid_Cap...
IL21R 16 27460779 27460780 RH41_SOFT_TISSU... 37 3'UTR Ins - TG rs66690088 uc002doq.1 IL21R_uc002dor.... Hybrid_Cap...
ILK 11 6630029 6630029 RH41_SOFT_TISSU... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ISG15 1 948846 948847 RH41_SOFT_TISSU... 37 5'UTR Ins - A rs33916361 uc001acj.3 Hybrid_Cap...
ITIH5L p.T221S X 54815038 54815038 RH41_SOFT_TISSU... 37 Missense_Mutation SNP T A uc004dtj.2 Hybrid_Cap... view
KIAA0802 p.A461G 18 8784492 8784492 RH41_SOFT_TISSU... 37 Missense_Mutation SNP C G uc002knr.2 KIAA0802_uc002k... Hybrid_Cap... view
KIAA2022 p.W258C X 73963618 73963618 RH41_SOFT_TISSU... 37 Missense_Mutation SNP C G uc004eby.2 Hybrid_Cap... view
KLK7 19 51480672 51480675 RH41_SOFT_TISSU... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LETM2 8 38265796 38265798 RH41_SOFT_TISSU... 37 3'UTR Del ACT - uc003xlm.1 LETM2_uc003xll.... Hybrid_Cap...
LGR5 p.L335S 12 71960626 71960626 RH41_SOFT_TISSU... 37 Missense_Mutation SNP T C uc001swl.2 LGR5_uc001swm.2... Hybrid_Cap... view
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 RH41_SOFT_TISSU... 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 RH41_SOFT_TISSU... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 RH41_SOFT_TISSU... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K10 p.P193A 19 40698515 40698515 RH41_SOFT_TISSU... 37 Missense_Mutation SNP C G uc002ona.2 Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 RH41_SOFT_TISSU... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP4K1 p.T204T 19 39103304 39103304 RH41_SOFT_TISSU... 37 Silent SNP C T uc002oix.1 MAP4K1_uc002oiy... Hybrid_Cap... view
MECOM 3 168862932 168862937 RH41_SOFT_TISSU... 37 Intron Del ACACA... - uc011bpj.1 MECOM_uc003ffj.... Hybrid_Cap...
MEF2A p.QQ428del 15 100252710 100252715 RH41_SOFT_TISSU... 37 In_Frame_Del Del CAGCA... - uc010urw.1 MEF2A_uc010urv.... Hybrid_Cap...
MGA p.Q2151H 15 42042258 42042258 RH41_SOFT_TISSU... 37 Missense_Mutation SNP A C uc010ucy.1 MGA_uc010ucz.1_... Hybrid_Cap... view
MYH1 p.L167M 17 10419249 10419249 RH41_SOFT_TISSU... 37 Missense_Mutation SNP G T uc002gmo.2 Hybrid_Cap... view
NCAM1 11 112832307 112832308 RH41_SOFT_TISSU... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 RH41_SOFT_TISSU... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 RH41_SOFT_TISSU... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 RH41_SOFT_TISSU... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 RH41_SOFT_TISSU... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 RH41_SOFT_TISSU... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
OR2L13 p.H127fs 1 248263058 248263061 RH41_SOFT_TISSU... 37 Frame_Shift_Del Del CTCT - uc001ids.2 Hybrid_Cap...
PAK3 p.C407G X 110439070 110439070 RH41_SOFT_TISSU... 37 Missense_Mutation SNP T G uc010npv.1 PAK3_uc010npt.1... Hybrid_Cap... view
PAX3 2 223158653 223158653 RH41_SOFT_TISSU... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PCP4L1 p.A30V 1 161254153 161254153 RH41_SOFT_TISSU... 37 Missense_Mutation SNP C T uc001gad.2 Hybrid_Cap... view
PDE4DIP p.Q1665fs 1 144873963 144873963 RH41_SOFT_TISSU... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 RH41_SOFT_TISSU... 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDGFA p.R203W 7 540768 540768 RH41_SOFT_TISSU... 37 Missense_Mutation SNP G A uc003sit.1 PDGFA_uc003sir.... Hybrid_Cap... view
PDGFRA 4 55130162 55130162 RH41_SOFT_TISSU... 37 Intron Del T - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 RH41_SOFT_TISSU... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3C2G 12 18800990 18800990 RH41_SOFT_TISSU... 37 3'UTR Del A - rs16914368 uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PRKAR1A p.D227G 17 66522025 66522025 RH41_SOFT_TISSU... 37 Missense_Mutation SNP A G uc002jhg.2 PRKAR1A_uc002jh... Hybrid_Cap... view
PRKD3 2 37480319 37480320 RH41_SOFT_TISSU... 37 Stop_Codon_Ins Ins - T rs79875666 uc002rqd.2 Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 RH41_SOFT_TISSU... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKG1 10 54053819 54053819 RH41_SOFT_TISSU... 37 3'UTR SNP G A uc001jjo.2 PRKG1_uc001jjm.... Hybrid_Cap... view
RAPGEF2 4 160189200 160189201 RH41_SOFT_TISSU... 37 5'UTR Ins - T rs72011511 uc003iqg.3 Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 RH41_SOFT_TISSU... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
SMC2 p.K1178N 9 106901536 106901536 RH41_SOFT_TISSU... 37 Missense_Mutation SNP G T uc004bbv.2 SMC2_uc004bbw.2... Hybrid_Cap... view
TACC3 4 1739519 1739527 RH41_SOFT_TISSU... 37 Intron Del GCCAT... - rs114226356 uc003gdo.2 TACC3_uc010ibz.... Hybrid_Cap...
TNRC6B p.Q1328del 22 40697177 40697179 RH41_SOFT_TISSU... 37 In_Frame_Del Del GCA - rs114291931 uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap...
TP53 p.P152fs 17 7578464 7578476 RH41_SOFT_TISSU... 37 Frame_Shift_Del Del GGGTG... - rs72661116 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap...
TP63 3 189507518 189507519 RH41_SOFT_TISSU... 37 Intron Ins - AG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TTBK2 p.R199W 15 43109238 43109238 RH41_SOFT_TISSU... 37 Missense_Mutation SNP G A uc001zqo.2 TTBK2_uc010bcy.... Hybrid_Cap... view
TTN 2 179391639 179391640 RH41_SOFT_TISSU... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN 2 179622603 179622603 RH41_SOFT_TISSU... 37 Intron SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UBR5 p.QNK1410del 8 103306296 103306304 RH41_SOFT_TISSU... 37 In_Frame_Del Del TTTGT... - uc003ykr.1 UBR5_uc003yks.1... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 RH41_SOFT_TISSU... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...