Annotation Summary for Cell Line: HSC-2  

Cell line primary name: HSC-2
Cell line aliases:
Gender: M
Site Primary: upper_aerodigestive_tract
Histology: carcinoma
Hist Subtype1: squamous_cell_carcinoma
Notes:
Source: HSRRB
Expression arrays: BUNDS_p_NCLE_RNA5_HG-U133_Plus_2_C09_419726
SNP arrays: PODIA_p_NCLE_DNAAffy7_GenomeWideSNP_6_F11_437432
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in HSC-2

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 HSC2_UPPER_AERO... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTSL3 p.R913C 15 84651117 84651117 HSC2_UPPER_AERO... 37 Missense_Mutation SNP C T uc002bjz.3 ADAMTSL3_uc010b... Hybrid_Cap... view
ADAMTSL3 p.E1282K 15 84657570 84657570 HSC2_UPPER_AERO... 37 Missense_Mutation SNP G A uc002bjz.3 ADAMTSL3_uc010b... Hybrid_Cap... view
ADCK4 p.E430fs 19 41198864 41198864 HSC2_UPPER_AERO... 37 Frame_Shift_Del Del C - uc002oor.2 NUMBL_uc010xvq.... Hybrid_Cap...
ADRBK2 p.P473S 22 26107056 26107056 HSC2_UPPER_AERO... 37 Missense_Mutation SNP C T uc003abx.3 ADRBK2_uc003abw... Hybrid_Cap... view
ADRBK2 p.K644N 22 26118282 26118282 HSC2_UPPER_AERO... 37 Missense_Mutation SNP G T uc003abx.3 ADRBK2_uc003aby... Hybrid_Cap... view
ALPK1 4 113347609 113347610 HSC2_UPPER_AERO... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALS2 p.K498M 2 202619373 202619373 HSC2_UPPER_AERO... 37 Missense_Mutation SNP T A uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap... view
ATM p.L581V 11 108122697 108122697 HSC2_UPPER_AERO... 37 Missense_Mutation SNP T G uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
ATM p.I2606V 11 108203516 108203516 HSC2_UPPER_AERO... 37 Missense_Mutation SNP A G uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
ATR p.R109W 3 142281919 142281919 HSC2_UPPER_AERO... 37 Missense_Mutation SNP G A uc003eux.3 Hybrid_Cap... view
AURKC 19 57742494 57742507 HSC2_UPPER_AERO... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCR 22 23632777 23632778 HSC2_UPPER_AERO... 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BRIP1 p.S697T 17 59853770 59853770 HSC2_UPPER_AERO... 37 Missense_Mutation SNP A T uc002izk.1 BRIP1_uc002izl.... Hybrid_Cap... view
C15ORF2 p.Q396H 15 24922202 24922202 HSC2_UPPER_AERO... 37 Missense_Mutation SNP G T uc001ywo.2 Hybrid_Cap... view
CACNB2 10 18828721 18828722 HSC2_UPPER_AERO... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CASP8 p.I498fs 2 202151192 202151192 HSC2_UPPER_AERO... 37 Frame_Shift_Del Del A - uc002uxt.1 CASP8_uc002uxp.... Hybrid_Cap...
CDKL2 p.V304A 4 76523370 76523370 HSC2_UPPER_AERO... 37 Missense_Mutation SNP A G uc011cbp.1 CDKL2_uc003hiq.... Hybrid_Cap... view
CDKL3 5 133541415 133541419 HSC2_UPPER_AERO... 37 3'UTR Del TTTTG - uc011cxm.1 PPP2CA_uc003kze... Hybrid_Cap...
CDKN2A p.A80fs 9 21994212 21994216 HSC2_UPPER_AERO... 37 Frame_Shift_Del Del GGCGC - uc003zpl.2 MTAP_uc003zpi.1... Hybrid_Cap...
CHD8 14 21853629 21853630 HSC2_UPPER_AERO... 37 3'UTR Ins - T rs75170206;rs78520772 uc001was.1 CHD8_uc001war.1... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 HSC2_UPPER_AERO... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
COL1A1 17 48262833 48262833 HSC2_UPPER_AERO... 37 3'UTR SNP G T uc002iqm.2 Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 HSC2_UPPER_AERO... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CREBBP p.G761_splice 16 3824568 3824568 HSC2_UPPER_AERO... 37 Splice_Site_SNP SNP A G uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CTNNB1 p.A622S 3 41277900 41277900 HSC2_UPPER_AERO... 37 Missense_Mutation SNP G T uc010hia.1 CTNNB1_uc003ckp... Hybrid_Cap... view
CXCL12 10 44873992 44873993 HSC2_UPPER_AERO... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
CYB5R4 p.Q15L 6 84569545 84569545 HSC2_UPPER_AERO... 37 Missense_Mutation SNP A T uc003pkf.2 Hybrid_Cap... view
CYLD 16 50821593 50821593 HSC2_UPPER_AERO... 37 Intron SNP G T uc002egp.1 CYLD_uc010cbs.1... Hybrid_Cap... view
DAPK3 p.R290H 19 3959595 3959595 HSC2_UPPER_AERO... 37 Missense_Mutation SNP C T uc002lzc.1 DAPK3_uc002lzb.... Hybrid_Cap... view
DNAH8 p.D1795N 6 38828308 38828308 HSC2_UPPER_AERO... 37 Missense_Mutation SNP G A uc003ooe.1 Hybrid_Cap... view
DRD2 p.N176D 11 113287591 113287591 HSC2_UPPER_AERO... 37 Missense_Mutation SNP T C uc001pnz.2 DRD2_uc010rwv.1... Hybrid_Cap... view
DST p.S678fs 6 56505280 56505299 HSC2_UPPER_AERO... 37 Frame_Shift_Del Del TAAAC... - uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap...
EPHA6 3 97367230 97367231 HSC2_UPPER_AERO... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 HSC2_UPPER_AERO... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
F8 p.D371N X 154194861 154194861 HSC2_UPPER_AERO... 37 Missense_Mutation SNP C T uc004fmt.2 Hybrid_Cap... view
FAM132A 1 1177919 1177919 HSC2_UPPER_AERO... 37 3'UTR Del T - uc001adl.1 Hybrid_Cap...
FBN2 p.D892E 5 127686696 127686696 HSC2_UPPER_AERO... 37 Missense_Mutation SNP G C uc003kuu.2 FBN2_uc003kuv.2... Hybrid_Cap... view
FBN2 p.E411_splice 5 127729062 127729062 HSC2_UPPER_AERO... 37 Splice_Site_SNP SNP C G uc003kuu.2 FBN2_uc003kuv.2... Hybrid_Cap... view
FCGR2B p.L295P 1 161647294 161647294 HSC2_UPPER_AERO... 37 Missense_Mutation SNP T C uc001gaz.1 FCGR2B_uc001gay... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 HSC2_UPPER_AERO... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FIP1L1 4 54245383 54245383 HSC2_UPPER_AERO... 37 Intron SNP A T uc003gzy.2 PDGFRA_uc003haa... Hybrid_Cap... view
FLI1 11 128638217 128638217 HSC2_UPPER_AERO... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT4 5 180035183 180035185 HSC2_UPPER_AERO... 37 Intron Del AGT - uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap...
FN1 2 216244182 216244185 HSC2_UPPER_AERO... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FURIN p.R683Q 15 91424771 91424771 HSC2_UPPER_AERO... 37 Missense_Mutation SNP G A uc002bpu.1 FES_uc010uqj.1_... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 HSC2_UPPER_AERO... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 HSC2_UPPER_AERO... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 HSC2_UPPER_AERO... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC2 6 114262077 114262080 HSC2_UPPER_AERO... 37 3'UTR Del AAAC - rs3217728 uc003pwd.1 HDAC2_uc003pwc.... Hybrid_Cap...
HERC2 p.G2615R 15 28443789 28443789 HSC2_UPPER_AERO... 37 Missense_Mutation SNP C G uc001zbj.2 HERC2_uc001zbk.... Hybrid_Cap... view
ILK 11 6630029 6630029 HSC2_UPPER_AERO... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGB1 10 33197131 33197134 HSC2_UPPER_AERO... 37 Intron Del CTTT - rs116966876 uc001iwq.3 ITGB1_uc001iwp.... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 HSC2_UPPER_AERO... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KDM5A p.T1472K 12 404779 404779 HSC2_UPPER_AERO... 37 Missense_Mutation SNP G T uc001qif.1 KDM5A_uc001qie.... Hybrid_Cap... view
KLK7 19 51480672 51480675 HSC2_UPPER_AERO... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 HSC2_UPPER_AERO... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 HSC2_UPPER_AERO... 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MFSD4 1 205569640 205569640 HSC2_UPPER_AERO... 37 3'UTR SNP C T uc001hcv.3 MFSD4_uc010prk.... Hybrid_Cap... view
MLL3 p.F4477fs 7 151845580 151845581 HSC2_UPPER_AERO... 37 Frame_Shift_Ins Ins - A uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap...
MLL3 p.Y816fs 7 151945071 151945072 HSC2_UPPER_AERO... 37 Frame_Shift_Ins Ins - T uc003wla.2 Hybrid_Cap...
MYB p.M537I 6 135520090 135520090 HSC2_UPPER_AERO... 37 Missense_Mutation SNP G A uc003qfh.2 MYB_uc003qfc.2_... Hybrid_Cap... view
MYLK p.E1066del 3 123419117 123419119 HSC2_UPPER_AERO... 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
NCAM1 11 112832307 112832308 HSC2_UPPER_AERO... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 HSC2_UPPER_AERO... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 HSC2_UPPER_AERO... 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 HSC2_UPPER_AERO... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 HSC2_UPPER_AERO... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NFKB1 p.D917_splice 4 103534740 103534741 HSC2_UPPER_AERO... 37 Splice_Site_Ins Ins - A rs35795162 uc011cep.1 NFKB1_uc011ceq.... Hybrid_Cap...
NLK 17 26369831 26369831 HSC2_UPPER_AERO... 37 5'UTR SNP C G uc010crj.2 NLK_uc010cri.1_... Hybrid_Cap... view
NOTCH4 p.15_16LL>L 6 32191659 32191661 HSC2_UPPER_AERO... 37 In_Frame_Del Del AGC - uc003obb.2 NOTCH4_uc011dpu... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 HSC2_UPPER_AERO... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
OBSCN p.R1129Q 1 228432177 228432177 HSC2_UPPER_AERO... 37 Missense_Mutation SNP G A uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
PAX3 2 223066017 223066018 HSC2_UPPER_AERO... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 HSC2_UPPER_AERO... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.L601fs 1 144915624 144915624 HSC2_UPPER_AERO... 37 Frame_Shift_Del Del G - rs1778112 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.E243fs 1 144923729 144923729 HSC2_UPPER_AERO... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDGFRA 4 55131002 55131002 HSC2_UPPER_AERO... 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PGGT1B 5 114548071 114548072 HSC2_UPPER_AERO... 37 3'UTR Ins - C uc003kqw.3 PGGT1B_uc003kqx... Hybrid_Cap...
PGR 11 100933598 100933599 HSC2_UPPER_AERO... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 HSC2_UPPER_AERO... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3CA p.H1047R 3 178952085 178952085 HSC2_UPPER_AERO... 37 Missense_Mutation SNP A G uc003fjk.2 Hybrid_Cap... view
PML 15 74327672 74327672 HSC2_UPPER_AERO... 37 Intron SNP C T uc002awv.2 PML_uc002awm.2_... Hybrid_Cap... view
PMS1 2 190670539 190670540 HSC2_UPPER_AERO... 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRKD1 p.I262S 14 30108022 30108022 HSC2_UPPER_AERO... 37 Missense_Mutation SNP A C uc001wqh.2 Hybrid_Cap... view
PRKDC p.S2533* 8 48749936 48749936 HSC2_UPPER_AERO... 37 Nonsense_Mutation SNP G C uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 HSC2_UPPER_AERO... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RAC1 p.L196V 7 6442027 6442027 HSC2_UPPER_AERO... 37 Missense_Mutation SNP C G uc003spw.2 RAC1_uc003spx.2... Hybrid_Cap... view
RBPJ 4 26432634 26432634 HSC2_UPPER_AERO... 37 3'UTR SNP C T uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 HSC2_UPPER_AERO... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RFC4 3 186509325 186509325 HSC2_UPPER_AERO... 37 Intron SNP T A uc003fqz.2 RFC4_uc011bsc.1... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 HSC2_UPPER_AERO... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KA5 p.Q466H 14 91365748 91365748 HSC2_UPPER_AERO... 37 Missense_Mutation SNP T G uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap... view
SEPT9 17 75494787 75494788 HSC2_UPPER_AERO... 37 3'UTR Ins - C rs5822173 uc002jts.3 SEPT9_uc010wtk.... Hybrid_Cap...
SPRY2 13 80910750 80910750 HSC2_UPPER_AERO... 37 3'UTR SNP A C uc001vli.2 SPRY2_uc001vlj.... Hybrid_Cap... view
STAT5A 17 40462797 40462800 HSC2_UPPER_AERO... 37 3'UTR Del TGTG - uc002hzj.1 STAT5A_uc010cya... Hybrid_Cap...
STK31 7 23872024 23872025 HSC2_UPPER_AERO... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
SULF2 p.V599fs 20 46295012 46295012 HSC2_UPPER_AERO... 37 Frame_Shift_Del Del C - uc002xto.2 SULF2_uc002xtr.... Hybrid_Cap...
TAB1 22 39832686 39832686 HSC2_UPPER_AERO... 37 3'UTR SNP C T uc003axu.1 Hybrid_Cap... view
TEC 4 48139307 48139310 HSC2_UPPER_AERO... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TET2 p.R835C 4 106157539 106157539 HSC2_UPPER_AERO... 37 Missense_Mutation SNP C T uc011cez.1 TET2_uc003hxk.2... Hybrid_Cap... view
TFG 3 100432504 100432504 HSC2_UPPER_AERO... 37 5'UTR SNP A G uc003due.2 TFG_uc003duf.2_... Hybrid_Cap... view
TLR3 p.R829G 4 187005325 187005325 HSC2_UPPER_AERO... 37 Missense_Mutation SNP A G uc003iyq.2 TLR3_uc011ckz.1... Hybrid_Cap... view
TMEM123 11 102269398 102269398 HSC2_UPPER_AERO... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TP53 p.E224_splice 17 7578176 7578176 HSC2_UPPER_AERO... 37 Splice_Site_SNP SNP C T uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 p.T155I 3 189526200 189526200 HSC2_UPPER_AERO... 37 Missense_Mutation SNP C T uc003fry.2 TP63_uc003frx.2... Hybrid_Cap... view
TTN 2 179391639 179391640 HSC2_UPPER_AERO... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
UBE3B 12 109947357 109947358 HSC2_UPPER_AERO... 37 Intron Ins - T uc001top.2 UBE3B_uc001toq.... Hybrid_Cap...
UNC13C p.R834Q 15 54307601 54307601 HSC2_UPPER_AERO... 37 Missense_Mutation SNP G A uc002ack.2 Hybrid_Cap... view
VAV1 p.A263T 19 6825377 6825377 HSC2_UPPER_AERO... 37 Missense_Mutation SNP G A uc002mfu.1 VAV1_uc010xjh.1... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 HSC2_UPPER_AERO... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VPS13B p.L1720S 8 100589725 100589725 HSC2_UPPER_AERO... 37 Missense_Mutation SNP T C uc003yiv.2 VPS13B_uc003yiw... Hybrid_Cap... view
WBP4 p.H226R 13 41650294 41650294 HSC2_UPPER_AERO... 37 Missense_Mutation SNP A G uc001uxt.2 WBP4_uc010tfd.1... Hybrid_Cap... view