Annotation Summary for Cell Line: SJSA-1  

Cell line primary name: SJSA-1
Cell line aliases:
Gender: M
Site Primary: bone
Histology: osteosarcoma
Hist Subtype1: NS
Notes:
Source: ATCC
Expression arrays: BRAKE_p_NCLE_RNA2_HG-U133_Plus_2_C09_241106
SNP arrays: ARLES_p_NCLE_DNAAffy2_S_GenomeWideSNP_6_F02_256124
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SJSA-1

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 SJSA1_BONE 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM17 2 9630245 9630245 SJSA1_BONE 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 SJSA1_BONE 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AFF3 p.R1099Q 2 100175401 100175401 SJSA1_BONE 37 Missense_Mutation SNP C T uc002taf.2 AFF3_uc002tag.2... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 SJSA1_BONE 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 SJSA1_BONE 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ASTN1 p.V1082M 1 176852113 176852113 SJSA1_BONE 37 Missense_Mutation SNP C T uc001glc.2 ASTN1_uc001glb.... Hybrid_Cap... view
AURKC 19 57742494 57742507 SJSA1_BONE 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BMP4 14 54416601 54416602 SJSA1_BONE 37 3'UTR Ins - TT rs74495140;rs76335800 uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap...
BMPR1A p.T33S 10 88649849 88649849 SJSA1_BONE 37 Missense_Mutation SNP C G uc001kdy.2 Hybrid_Cap... view
BRCA2 13 32973072 32973073 SJSA1_BONE 37 3'UTR Ins - G uc001uub.1 Hybrid_Cap...
CACNA1F p.815_815E>EE X 49076224 49076225 SJSA1_BONE 37 In_Frame_Ins Ins - TCC uc004dnb.2 CACNA1F_uc010ni... Hybrid_Cap...
CACNB2 10 18828721 18828722 SJSA1_BONE 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CCR6 6 167417112 167417112 SJSA1_BONE 37 5'UTR Del C - uc003qvl.2 FGFR1OP_uc011eg... Hybrid_Cap...
CDC73 1 193091168 193091168 SJSA1_BONE 37 5'UTR SNP C T uc001gtb.2 Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 SJSA1_BONE 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 SJSA1_BONE 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339681 1339686 SJSA1_BONE 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 SJSA1_BONE 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CYFIP1 p.Q222_splice 15 22933659 22933660 SJSA1_BONE 37 Splice_Site_Ins Ins - AAGG uc001yus.2 CYFIP1_uc001yut... Hybrid_Cap...
DDX10 p.788_789insDD 11 108788634 108788635 SJSA1_BONE 37 In_Frame_Ins Ins - TGATGA uc001pkm.2 DDX10_uc001pkl.... Hybrid_Cap...
EDN1 6 12290729 12290729 SJSA1_BONE 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EIF4G1 p.EE471del 3 184039744 184039749 SJSA1_BONE 37 In_Frame_Del Del GAAGA... - uc010hxx.2 EIF4G1_uc003fno... Hybrid_Cap...
EP300 p.T891P 22 41546056 41546056 SJSA1_BONE 37 Missense_Mutation SNP A C uc003azl.3 Hybrid_Cap... view
EPHA6 3 97367230 97367231 SJSA1_BONE 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHB6 7 142568771 142568771 SJSA1_BONE 37 3'UTR Del C - uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap...
ERBB3 p.E173Q 12 56480410 56480410 SJSA1_BONE 37 Missense_Mutation SNP G C uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap... view
ESR2 14 64694154 64694154 SJSA1_BONE 37 3'UTR SNP A C uc001xgu.2 ESR2_uc001xgv.2... Hybrid_Cap... view
ESR2 p.Q393K 14 64716312 64716312 SJSA1_BONE 37 Missense_Mutation SNP G T uc001xha.1 ESR2_uc001xgu.2... Hybrid_Cap... view
ETV1 7 14028708 14028708 SJSA1_BONE 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 SJSA1_BONE 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 SJSA1_BONE 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 SJSA1_BONE 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT1 p.N425H 13 29001892 29001892 SJSA1_BONE 37 Missense_Mutation SNP T G uc001usb.3 FLT1_uc010aar.1... Hybrid_Cap... view
FMN2 p.917_918insPP 1 240370839 240370840 SJSA1_BONE 37 In_Frame_Ins Ins - CCCCCT uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FOXP1 3 71008341 71008342 SJSA1_BONE 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
FURIN p.S758F 15 91424996 91424996 SJSA1_BONE 37 Missense_Mutation SNP C T uc002bpu.1 FES_uc010uqj.1_... Hybrid_Cap... view
GPC3 p.L157V X 132888072 132888072 SJSA1_BONE 37 Missense_Mutation SNP A C uc010nrn.1 GPC3_uc004exd.1... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 SJSA1_BONE 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 SJSA1_BONE 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 SJSA1_BONE 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC4 2 240048387 240048387 SJSA1_BONE 37 Intron SNP C G uc002vyk.3 HDAC4_uc010fyz.... Hybrid_Cap... view
HIF1A 14 62213929 62213930 SJSA1_BONE 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HSP90AA1 14 102549281 102549281 SJSA1_BONE 37 Intron SNP A G uc001ykv.3 HSP90AA1_uc001y... Hybrid_Cap... view
ILK 11 6630029 6630029 SJSA1_BONE 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
KALRN 3 124393482 124393482 SJSA1_BONE 37 Intron SNP C T uc003ehg.2 KALRN_uc003ehi.... Hybrid_Cap... view
KLK7 19 51480672 51480675 SJSA1_BONE 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LRRC7 p.S90N 1 70257805 70257805 SJSA1_BONE 37 Missense_Mutation SNP G A uc001dep.2 LRRC7_uc001deo.... Hybrid_Cap... view
MAGEB16 p.P8T X 35820335 35820335 SJSA1_BONE 37 Missense_Mutation SNP C A uc010ngt.1 Hybrid_Cap... view
MAMDC4 p.P99fs 9 139747878 139747881 SJSA1_BONE 37 Frame_Shift_Del Del CTCA - uc004cjs.2 MAMDC4_uc011mej... Hybrid_Cap...
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 SJSA1_BONE 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 SJSA1_BONE 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 SJSA1_BONE 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 SJSA1_BONE 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K4 p.A1199del 6 161519351 161519353 SJSA1_BONE 37 In_Frame_Del Del CTG - uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap...
MAPK8IP2 22 51049312 51049312 SJSA1_BONE 37 3'UTR SNP A G uc003bmx.2 MAPK8IP2_uc003b... Hybrid_Cap... view
MCL1 1 150549800 150549801 SJSA1_BONE 37 3'UTR Ins - TGGTGG uc001euz.2 MCL1_uc010pch.1... Hybrid_Cap...
MDM2 p.E333D 12 69233134 69233134 SJSA1_BONE 37 Missense_Mutation SNP G T uc001sui.2 MDM2_uc009zri.2... Hybrid_Cap... view
MKL1 p.D522H 22 40814878 40814878 SJSA1_BONE 37 Missense_Mutation SNP C G uc003ayv.1 MKL1_uc003ayw.1... Hybrid_Cap... view
MLLT6 17 36881873 36881873 SJSA1_BONE 37 3'UTR Del C - uc002hqi.3 MLLT6_uc002hqk.... Hybrid_Cap...
MN1 p.G1019R 22 28193477 28193477 SJSA1_BONE 37 Missense_Mutation SNP C T uc003adj.2 Hybrid_Cap... view
MSI2 17 55709379 55709380 SJSA1_BONE 37 Intron Ins - A rs60931600;rs28700576 uc002iuz.1 MSI2_uc010wnm.1... Hybrid_Cap...
MTUS2 13 30002788 30002790 SJSA1_BONE 37 Intron Del CTC - uc001usl.3 MTUS2_uc001usm.... Hybrid_Cap...
MYH10 17 8379034 8379034 SJSA1_BONE 37 3'UTR SNP G A uc002glm.2 MYH10_uc002gll.... Hybrid_Cap... view
MYH11 p.T1553M 16 15814850 15814850 SJSA1_BONE 37 Missense_Mutation SNP G A uc002ddx.2 MYH11_uc002ddv.... Hybrid_Cap... view
MYO18B p.Q1485fs 22 26287291 26287292 SJSA1_BONE 37 Frame_Shift_Ins Ins - A uc003abz.1 MYO18B_uc003aca... Hybrid_Cap...
MYST4 p.E1104del 10 76781906 76781908 SJSA1_BONE 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
MYST4 10 76790936 76790936 SJSA1_BONE 37 3'UTR Del A - uc001jwn.1 MYST4_uc001jwo.... Hybrid_Cap...
NCAM1 11 112832307 112832308 SJSA1_BONE 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SJSA1_BONE 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NLRP3 1 247582066 247582066 SJSA1_BONE 37 5'UTR SNP C T uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap... view
NLRP3 1 247611982 247611982 SJSA1_BONE 37 3'UTR Del C - uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap...
NOTCH2 1 120457918 120457918 SJSA1_BONE 37 3'UTR SNP G A uc001eik.2 Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 SJSA1_BONE 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NTRK3 15 88420115 88420115 SJSA1_BONE 37 3'UTR SNP G C uc002bme.1 NTRK3_uc002bmh.... Hybrid_Cap... view
NUP153 6 17616285 17616286 SJSA1_BONE 37 3'UTR Ins - CAC uc011dje.1 NUP153_uc003ncd... Hybrid_Cap...
PAX3 2 223066017 223066018 SJSA1_BONE 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 SJSA1_BONE 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PCM1 p.T1279R 8 17830089 17830089 SJSA1_BONE 37 Missense_Mutation SNP C G uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap... view
PCNA 20 5099019 5099019 SJSA1_BONE 37 Intron SNP A G uc002wlp.2 PCNA_uc002wlq.2... Hybrid_Cap... view
PIK3C2G 12 18800990 18800990 SJSA1_BONE 37 3'UTR Del A - rs16914368 uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3R1 5 67587949 67587949 SJSA1_BONE 37 Intron SNP T C uc003jva.2 PIK3R1_uc003jvb... Hybrid_Cap... view
PINK1 p.A443V 1 20975564 20975564 SJSA1_BONE 37 Missense_Mutation SNP C T uc001bdm.2 PINK1_uc001bdn.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 SJSA1_BONE 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RAPGEF2 4 160189200 160189201 SJSA1_BONE 37 5'UTR Ins - T rs72011511 uc003iqg.3 Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 SJSA1_BONE 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RFC4 p.G284R 3 186508147 186508147 SJSA1_BONE 37 Missense_Mutation SNP C G uc003fqz.2 RFC4_uc011bsc.1... Hybrid_Cap... view
RHOA p.V43A 3 49412895 49412895 SJSA1_BONE 37 Missense_Mutation SNP A G uc003cwu.2 RHOA_uc010hku.2... Hybrid_Cap... view
RIF1 p.1837_1839EIC>G 2 152321544 152321549 SJSA1_BONE 37 In_Frame_Del Del AAATT... - uc002txm.2 RIF1_uc002txl.2... Hybrid_Cap...
RIPK3 14 24807831 24807831 SJSA1_BONE 37 Intron Del A - uc001wpb.2 RIPK3_uc001wpa.... Hybrid_Cap...
ROBO2 p.W1024R 3 77651564 77651564 SJSA1_BONE 37 Missense_Mutation SNP T C uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap... view
ROBO2 3 77666937 77666937 SJSA1_BONE 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
ROCK2 p.V1048I 2 11337789 11337789 SJSA1_BONE 37 Missense_Mutation SNP C T uc002rbd.1 Hybrid_Cap... view
SCD5 4 83552397 83552397 SJSA1_BONE 37 3'UTR SNP G A uc003hna.2 Hybrid_Cap... view
SGK269 p.N118D 15 77473917 77473917 SJSA1_BONE 37 Missense_Mutation SNP T C uc002bcm.2 SGK269_uc002bcn... Hybrid_Cap... view
SOS1 2 39212848 39212848 SJSA1_BONE 37 3'UTR SNP A T uc002rrk.3 SOS1_uc002rrj.3... Hybrid_Cap... view
SOS1 p.R497Q 2 39250079 39250079 SJSA1_BONE 37 Missense_Mutation SNP C T uc002rrk.3 SOS1_uc010ynr.1... Hybrid_Cap... view
SP1 p.G572C 12 53800407 53800407 SJSA1_BONE 37 Missense_Mutation SNP G T uc001scw.2 SP1_uc010sog.1_... Hybrid_Cap... view
SRPK1 6 35802992 35802992 SJSA1_BONE 37 3'UTR Del G - uc003olj.2 SRPK1_uc011dtg.... Hybrid_Cap...
STK31 7 23872024 23872025 SJSA1_BONE 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STRADA 17 61781331 61781332 SJSA1_BONE 37 Intron Ins - AGAACC rs66701913 uc002jbm.2 STRADA_uc002jbn... Hybrid_Cap...
TNKS2 p.N307S 10 93586898 93586898 SJSA1_BONE 37 Missense_Mutation SNP A G uc001khp.2 Hybrid_Cap... view
TNRC6B p.S517P 22 40661783 40661783 SJSA1_BONE 37 Missense_Mutation SNP T C uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap... view
TRIM33 1 114940211 114940212 SJSA1_BONE 37 3'UTR Ins - T rs66490349 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRIM37 p.S270_splice 17 57141768 57141769 SJSA1_BONE 37 Splice_Site_Ins Ins - A uc002iwy.3 TRIM37_uc002iwz... Hybrid_Cap...
TSSK2 p.E296E 22 19119800 19119800 SJSA1_BONE 37 Silent SNP G A uc002zow.2 DGCR14_uc002zot... Hybrid_Cap... view
TTN 2 179391639 179391640 SJSA1_BONE 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
UBE3B 12 109947357 109947358 SJSA1_BONE 37 Intron Ins - T uc001top.2 UBE3B_uc001toq.... Hybrid_Cap...
UBR5 p.A1284T 8 103307723 103307723 SJSA1_BONE 37 Missense_Mutation SNP C T uc003ykr.1 UBR5_uc003yks.1... Hybrid_Cap... view
USP6 p.T693fs 17 5048786 5048787 SJSA1_BONE 37 Frame_Shift_Del Del AT - uc002gau.1 USP6_uc002gav.1... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 SJSA1_BONE 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WNK2 p.968_980LPPQPTRPPQPVL>L 9 96021733 96021768 SJSA1_BONE 37 In_Frame_Del Del TGCCC... - rs10124322;rs10114908;rs12352038;rs10121188 uc004ati.1 WNK2_uc011lud.1... Hybrid_Cap...
WNK3 p.E383* X 54328235 54328235 SJSA1_BONE 37 Nonsense_Mutation SNP C A uc004dtc.1 WNK3_uc004dtd.1... Hybrid_Cap... view
YSK4 p.L980I 2 135743504 135743504 SJSA1_BONE 37 Missense_Mutation SNP G T uc002tue.1 YSK4_uc002tuf.1... Hybrid_Cap... view