Annotation Summary for Cell Line: NCI-H1975  

Cell line primary name: NCI-H1975
Cell line aliases: H1975
Gender: F
Site Primary: lung
Histology: carcinoma
Hist Subtype1: non_small_cell_carcinoma
Notes:
Source: ATCC
Expression arrays: METIS_p_NCLE_RNA1_Human_U133_Plus_2.0_H03_241022
SNP arrays: ARLES_p_NCLE_DNAAffy2_S_GenomeWideSNP_6_B05_256034
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in NCI-H1975

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 NCIH1975_LUNG 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM17 2 9630245 9630245 NCIH1975_LUNG 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 NCIH1975_LUNG 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM29 p.PQVMPSQSQPPVTPSQSQ752del 4 175898930 175898983 NCIH1975_LUNG 37 In_Frame_Del Del CCTCA... - rs111721161 uc003iuc.2 ADAM29_uc003iud... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 NCIH1975_LUNG 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 NCIH1975_LUNG 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347609 113347610 NCIH1975_LUNG 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 NCIH1975_LUNG 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ALPK2 p.C602S 18 56246204 56246204 NCIH1975_LUNG 37 Missense_Mutation SNP A T uc002lhj.3 Hybrid_Cap... view
APC p.S2134C 5 112177692 112177692 NCIH1975_LUNG 37 Missense_Mutation SNP C G uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
ATR 3 142168652 142168653 NCIH1975_LUNG 37 Intron DNP AC GA uc003eux.3 XRN1_uc003eus.2... Hybrid_Cap...
AURKC 19 57742494 57742507 NCIH1975_LUNG 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCL11B 14 99640466 99640466 NCIH1975_LUNG 37 3'UTR SNP C T uc001yga.2 BCL11B_uc001ygb... Hybrid_Cap... view
BCR 22 23631813 23631814 NCIH1975_LUNG 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BCR 22 23632777 23632778 NCIH1975_LUNG 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
CBFA2T3 p.A512T 16 88945806 88945806 NCIH1975_LUNG 37 Missense_Mutation SNP C T uc002fmm.1 CBFA2T3_uc002fm... Hybrid_Cap... view
CCDC50 p.E106D 3 191078936 191078936 NCIH1975_LUNG 37 Missense_Mutation SNP G T uc003fsv.2 CCDC50_uc003fsw... Hybrid_Cap... view
CDK11B 1 1654066 1654068 NCIH1975_LUNG 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDKN2C 1 51439944 51439944 NCIH1975_LUNG 37 3'UTR SNP C T uc001csf.2 CDKN2C_uc001csg... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 NCIH1975_LUNG 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
COL3A1 p.R1432L 2 189876394 189876394 NCIH1975_LUNG 37 Missense_Mutation SNP G T uc002uqj.1 Hybrid_Cap... view
CTTN p.K205T 11 70265897 70265897 NCIH1975_LUNG 37 Missense_Mutation SNP A C uc001opu.2 CTTN_uc001opv.3... Hybrid_Cap... view
CXCL9 p.K104T 4 76924818 76924818 NCIH1975_LUNG 37 Missense_Mutation SNP T G uc003hjh.1 Hybrid_Cap... view
DACH1 13 72014625 72014626 NCIH1975_LUNG 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DCLK3 p.R340W 3 36779133 36779133 NCIH1975_LUNG 37 Missense_Mutation SNP G A uc003cgi.2 Hybrid_Cap... view
DICER1 p.I1127F 14 95570354 95570354 NCIH1975_LUNG 37 Missense_Mutation SNP T A uc001ydw.2 DICER1_uc010avh... Hybrid_Cap... view
DYRK1A 21 38884966 38884967 NCIH1975_LUNG 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EGFR p.T790M 7 55249071 55249071 NCIH1975_LUNG 37 Missense_Mutation SNP C T rs121434569 uc003tqk.2 EGFR_uc010kzg.1... Hybrid_Cap... view
EGFR p.L858R 7 55259515 55259515 NCIH1975_LUNG 37 Missense_Mutation SNP T G rs121434568 uc003tqk.2 EGFR_uc010kzg.1... Hybrid_Cap... view
EIF4A2 3 186505822 186505822 NCIH1975_LUNG 37 Intron SNP T C uc003fqu.2 EIF4A2_uc003fqs... Hybrid_Cap... view
EPHA1 p.V103M 7 143098542 143098542 NCIH1975_LUNG 37 Missense_Mutation SNP C T uc003wcz.2 Hybrid_Cap... view
ERN2 p.L515V 16 23711986 23711986 NCIH1975_LUNG 37 Missense_Mutation SNP G C uc002dma.3 ERN2_uc010bxp.2... Hybrid_Cap... view
ETV1 7 14028708 14028708 NCIH1975_LUNG 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 NCIH1975_LUNG 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLI1 11 128638217 128638217 NCIH1975_LUNG 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FMN2 p.P1239S 1 240371815 240371815 NCIH1975_LUNG 37 Missense_Mutation SNP C T uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap... view
FN1 2 216244182 216244185 NCIH1975_LUNG 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GH1 17 61994631 61994631 NCIH1975_LUNG 37 3'UTR SNP G T uc002jdj.2 GH1_uc002jdi.2_... Hybrid_Cap... view
GLI1 p.M1V 12 57857475 57857475 NCIH1975_LUNG 37 Missense_Mutation SNP A G uc001snx.2 GLI1_uc009zpp.2... Hybrid_Cap... view
GRIA3 X 122318386 122318387 NCIH1975_LUNG 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 NCIH1975_LUNG 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 NCIH1975_LUNG 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 NCIH1975_LUNG 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
IGF1R p.E1037K 15 99478205 99478205 NCIH1975_LUNG 37 Missense_Mutation SNP G A uc002bul.2 IGF1R_uc010bon.... Hybrid_Cap... view
ILK 11 6630029 6630029 NCIH1975_LUNG 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR1 3 4687470 4687471 NCIH1975_LUNG 37 Intron Ins - CT rs33946275 uc003bqa.2 ITPR1_uc010hbz.... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 NCIH1975_LUNG 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KSR2 12 117904809 117904809 NCIH1975_LUNG 37 3'UTR SNP C G uc001two.2 Hybrid_Cap... view
LRP1B p.G2406fs 2 141299517 141299517 NCIH1975_LUNG 37 Frame_Shift_Del Del C - uc002tvj.1 Hybrid_Cap...
LRP1B p.G1032fs 2 141707843 141707844 NCIH1975_LUNG 37 Frame_Shift_Del Del CC - uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap...
LRP1B p.A924_splice 2 141747100 141747100 NCIH1975_LUNG 37 Splice_Site_SNP SNP C T uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
MAF 16 79628537 79628537 NCIH1975_LUNG 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 NCIH1975_LUNG 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 NCIH1975_LUNG 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K6 17 67537925 67537925 NCIH1975_LUNG 37 3'UTR SNP T C uc002jij.2 Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 NCIH1975_LUNG 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 NCIH1975_LUNG 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K3 p.E351D 17 61766992 61766992 NCIH1975_LUNG 37 Missense_Mutation SNP G C uc002jbe.2 MAP3K3_uc002jbf... Hybrid_Cap... view
MAP3K6 p.K1125del 1 27683230 27683232 NCIH1975_LUNG 37 In_Frame_Del Del CTT - uc001bny.1 MAP3K6_uc009vsw... Hybrid_Cap...
MAP3K6 p.E310K 1 27689976 27689976 NCIH1975_LUNG 37 Missense_Mutation SNP C T uc001bny.1 MAP3K6_uc009vsw... Hybrid_Cap... view
MAPKBP1 p.R752W 15 42111100 42111100 NCIH1975_LUNG 37 Missense_Mutation SNP C T rs61729964 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap... view
MARK1 p.R584T 1 220826454 220826454 NCIH1975_LUNG 37 Missense_Mutation SNP G C uc009xdw.2 MARK1_uc001hmn.... Hybrid_Cap... view
MASTL p.R592G 10 27459662 27459662 NCIH1975_LUNG 37 Missense_Mutation SNP A G uc001itm.2 MASTL_uc001itl.... Hybrid_Cap... view
MLLT10 p.T556_splice 10 21971153 21971153 NCIH1975_LUNG 37 Splice_Site_SNP SNP G A uc001iqs.2 MLLT10_uc001iqt... Hybrid_Cap... view
MYST4 p.G656R 10 76736061 76736061 NCIH1975_LUNG 37 Missense_Mutation SNP G A uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 NCIH1975_LUNG 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 NCIH1975_LUNG 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 NCIH1975_LUNG 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK1 p.K648E 4 170428253 170428253 NCIH1975_LUNG 37 Missense_Mutation SNP T C uc003isd.1 NEK1_uc003isb.1... Hybrid_Cap... view
NOTCH4 p.15_16LL>L 6 32191659 32191661 NCIH1975_LUNG 37 In_Frame_Del Del AGC - uc003obb.2 NOTCH4_uc011dpu... Hybrid_Cap...
NPR1 1 153665919 153665920 NCIH1975_LUNG 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 NCIH1975_LUNG 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H3 11 47281948 47281948 NCIH1975_LUNG 37 Intron SNP T C uc001nel.2 NR1H3_uc009yll.... Hybrid_Cap... view
NSD1 p.R632Q 5 176637295 176637295 NCIH1975_LUNG 37 Missense_Mutation SNP G A uc003mfr.3 NSD1_uc003mft.3... Hybrid_Cap... view
NUP98 11 3733655 3733655 NCIH1975_LUNG 37 Intron SNP A G uc001lyh.2 NUP98_uc001lyi.... Hybrid_Cap... view
OBSCN p.A6838fs 1 228558993 228558994 NCIH1975_LUNG 37 Frame_Shift_Del Del CA - uc009xez.1 OBSCN_uc001hsr.... Hybrid_Cap...
PAX3 2 223158653 223158653 NCIH1975_LUNG 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PCDH15 p.K1333R 10 55600080 55600080 NCIH1975_LUNG 37 Missense_Mutation SNP T C uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap... view
PCDH15 p.T566K 10 55912962 55912962 NCIH1975_LUNG 37 Missense_Mutation SNP G T uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap... view
PGR 11 100933598 100933599 NCIH1975_LUNG 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 NCIH1975_LUNG 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3CA p.G118D 3 178917478 178917478 NCIH1975_LUNG 37 Missense_Mutation SNP G A uc003fjk.2 Hybrid_Cap... view
PIKFYVE p.S514C 2 209169642 209169642 NCIH1975_LUNG 37 Missense_Mutation SNP C G uc002vcz.2 PIKFYVE_uc010fu... Hybrid_Cap... view
PMS1 2 190670539 190670540 NCIH1975_LUNG 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRKAA2 p.M164I 1 57159454 57159454 NCIH1975_LUNG 37 Missense_Mutation SNP G A uc001cyk.3 Hybrid_Cap... view
PRKCA 17 64298959 64298960 NCIH1975_LUNG 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 NCIH1975_LUNG 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RAP1GDS1 p.A511V 4 99355175 99355175 NCIH1975_LUNG 37 Missense_Mutation SNP C T uc003htw.3 RAP1GDS1_uc003h... Hybrid_Cap... view
RPS6KB1 17 58024224 58024225 NCIH1975_LUNG 37 3'UTR Ins - AA rs67846207 uc002ixy.2 RPS6KB1_uc010dd... Hybrid_Cap...
SLC22A15 p.I336T 1 116577870 116577870 NCIH1975_LUNG 37 Missense_Mutation SNP T C uc001egb.3 Hybrid_Cap... view
SMG1 p.A2020S 16 18856912 18856912 NCIH1975_LUNG 37 Missense_Mutation SNP C A uc002dfm.2 SMG1_uc010bwb.2... Hybrid_Cap... view
SPEG p.Q2772E 2 220353940 220353940 NCIH1975_LUNG 37 Missense_Mutation SNP C G uc010fwg.2 Hybrid_Cap... view
STK19 p.A19fs 6 31939829 31939830 NCIH1975_LUNG 37 Frame_Shift_Ins Ins - A uc003nyv.2 DOM3Z_uc003nyo.... Hybrid_Cap...
STK4 p.V101I 20 43610525 43610525 NCIH1975_LUNG 37 Missense_Mutation SNP G A uc002xnb.2 STK4_uc010ggx.2... Hybrid_Cap... view
TBX22 p.R198H X 79281236 79281236 NCIH1975_LUNG 37 Missense_Mutation SNP G A uc010nmg.1 TBX22_uc004edi.... Hybrid_Cap... view
TEC 4 48139307 48139310 NCIH1975_LUNG 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TNRC6B 22 40719291 40719291 NCIH1975_LUNG 37 3'UTR SNP A G uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap... view
TOP2B p.I803V 3 25665861 25665861 NCIH1975_LUNG 37 Missense_Mutation SNP T C uc003cdj.2 TOP2B_uc011awn.... Hybrid_Cap... view
TP63 3 189507518 189507519 NCIH1975_LUNG 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIM33 1 114940215 114940216 NCIH1975_LUNG 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRPS1 p.C1151F 8 116426684 116426684 NCIH1975_LUNG 37 Missense_Mutation SNP C A uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap... view
TTN p.R28882C 2 179411904 179411904 NCIH1975_LUNG 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.G10393G 2 179536843 179536843 NCIH1975_LUNG 37 Silent SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.R1683Q 2 179641543 179641543 NCIH1975_LUNG 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 NCIH1975_LUNG 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZAK 2 174131511 174131512 NCIH1975_LUNG 37 3'UTR Ins - A rs75896701 uc002uhz.2 Hybrid_Cap...