Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 5 69 0 0 1 0 0 PRC1 9055 broad.mit.edu 37 15 91517940 91517940 + Nonsense_Mutation SNP G G A TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr15:91517940G>A ENST00000361188.5 - 10 2436 c.1225C>T c.(1225-1227)Cga>Tga p.R409* PRC1_ENST00000361919.3_Nonsense_Mutation_p.R409*|PRC1_ENST00000442656.2_Nonsense_Mutation_p.R368*|PRC1_ENST00000394249.3_Nonsense_Mutation_p.R409*|PRC1-AS1_ENST00000554388.1_RNA O43663 PRC1_HUMAN protein regulator of cytokinesis 1 409 Spectrin-fold. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) AATTCAATTCGTGCCTTCAAC 0.413000 9 199 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13597501 13597501 + Missense_Mutation SNP C C T TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr4:13597501C>T ENST00000040738.5 - 12 8222 c.8087G>A c.(8086-8088)gGa>gAa p.G2696E NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2696 DNA binding ACTTGGCTTTCCCCCACACAG 0.378000 16 123 0 0 1 0 0 MMP2 0 broad.mit.edu 37 16 55516924 55516924 + Missense_Mutation SNP C C G TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr16:55516924C>G ENST00000219070.4 + 2 766 c.257C>G c.(256-258)aCa>aGa p.T86R MMP2_ENST00000437642.2_Missense_Mutation_p.T36R|MMP2_ENST00000543485.1_Missense_Mutation_p.T10R|MMP2_ENST00000570308.1_Missense_Mutation_p.T10R NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 86 angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) CTGCCCCAGACAGGTGATCTT 0.532000 12 81 0 0 1 0 0 ITGA7 3679 broad.mit.edu 37 12 56091578 56091578 + Missense_Mutation SNP T T G TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr12:56091578T>G ENST00000257880.7 - 10 1661 c.1442A>C c.(1441-1443)aAg>aCg p.K481T ITGA7_ENST00000553804.1_Missense_Mutation_p.K441T|ITGA7_ENST00000394230.2_Missense_Mutation_p.K441T|ITGA7_ENST00000394229.2_Missense_Mutation_p.K437T|ITGA7_ENST00000347027.6_Missense_Mutation_p.K437T|ITGA7_ENST00000257879.6_Missense_Mutation_p.K437T|ITGA7_ENST00000452168.2_Missense_Mutation_p.K344T|ITGA7_ENST00000555728.1_Missense_Mutation_p.K481T Q13683 ITA7_HUMAN integrin, alpha 7 481 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GCCGAAGCTCTTGATGCCCAC 0.622000 7 121 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 46 0 0 1 0 0 CDIP1 29965 broad.mit.edu 37 16 4563025 4563025 + Silent SNP G G A TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr16:4563025G>A ENST00000399599.3 - 4 830 c.282C>T c.(280-282)taC>taT p.Y94Y CDIP1_ENST00000564828.1_Intron|CDIP1_ENST00000562334.1_Intron|CDIP1_ENST00000567695.1_Silent_p.Y94Y|CDIP1_ENST00000563507.1_Intron|CDIP1_ENST00000563332.2_Silent_p.Y94Y cell death-inducing p53 target 1 CTGGGGGGTAGTAGCCCATGG 0.657000 3 3 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121729541 121729541 + Missense_Mutation SNP G G A TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr2:121729541G>A ENST00000452319.1 + 8 1144 c.1084G>A c.(1084-1086)Gtc>Atc p.V362I GLI2_ENST00000314490.11_Missense_Mutation_p.V34I|GLI2_ENST00000361492.4_Missense_Mutation_p.V362I|GLI2_ENST00000435313.2_3'UTR P10070 GLI2_HUMAN GLI family zinc finger 2 362 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) TGAGTCGGCCGTCAGCAGCAC 0.592000 12 47 0 0 1 0 0 MON2 23041 broad.mit.edu 37 12 62986421 62986421 + Silent SNP C C T TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr12:62986421C>T ENST00000393630.3 + 36 5440 c.5049C>T c.(5047-5049)tgC>tgT p.C1683C MON2_ENST00000546600.1_3'UTR|MON2_ENST00000393632.2_Silent_p.C1682C|MON2_ENST00000551397.1_Silent_p.C56C|MON2_ENST00000393629.2_Silent_p.C1676C|MON2_ENST00000552738.1_Silent_p.C1653C NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 1683 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) TAGTAGAATGCATCACCTGTT 0.393000 22 43 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70900084 70900084 + Missense_Mutation SNP G G A TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr2:70900084G>A ENST00000264436.3 - 15 2240 c.1796C>T c.(1795-1797)gCt>gTt p.A599V ADD2_ENST00000407644.2_Missense_Mutation_p.A599V|ADD2_ENST00000355733.3_Missense_Mutation_p.L628F NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) 599 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 CACTGGAGAAGCAGGTGCAGA 0.512000 6 29 0 0 1 0 0 C10orf54 64115 broad.mit.edu 37 10 73521443 73521443 + Silent SNP G G A TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr10:73521443G>A ENST00000394957.3 - 2 481 c.423C>T c.(421-423)agC>agT p.S141S C10orf54_ENST00000481568.1_5'UTR|CDH23_ENST00000224721.6_Intron NM_022153.1 NP_071436.1 Q9H7M9 GI24_HUMAN chromosome 10 open reading frame 54 141 Ig-like. integral to membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 9 AGTAGAGGCCGCTATCCAGCA 0.642000 3 38 0 0 1 0 0 CDKN1A 1026 broad.mit.edu 37 6 36651904 36651904 + Missense_Mutation SNP G G C rs143419412 byFrequency TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr6:36651904G>C ENST00000405375.1 + 2 261 c.26G>C c.(25-27)cGt>cCt p.R9P CDKN1A_ENST00000244741.5_Missense_Mutation_p.R9P|CDKN1A_ENST00000448526.2_Missense_Mutation_p.R43P|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Missense_Mutation_p.R9P NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 9 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 GGGGATGTCCGTCAGAACCCA 0.632000 7 32 0 0 1 0 0 MED11 400569 broad.mit.edu 37 17 4634849 4634849 + Missense_Mutation SNP G G A TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr17:4634849G>A ENST00000293777.5 + 1 121 c.65G>A c.(64-66)gGc>gAc p.G22D MED11_ENST00000575284.1_Missense_Mutation_p.G22D|MED11_ENST00000573708.1_Missense_Mutation_p.G22D NM_001001683.2 NP_001001683.1 Q9P086 MED11_HUMAN mediator complex subunit 11 22 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex protein binding lung(2)|ovary(2) 4 CGGGAAATCGGCGCCATCCTT 0.577000 OREG0024104 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 37 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 47 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27291612 27291612 + Missense_Mutation SNP G G A TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr8:27291612G>A ENST00000397501.1 + 17 1916 c.1108G>A c.(1108-1110)Ggt>Agt p.G370S PTK2B_ENST00000544172.1_Missense_Mutation_p.G370S|PTK2B_ENST00000397497.4_Missense_Mutation_p.G116S|PTK2B_ENST00000338238.4_Missense_Mutation_p.G370S|PTK2B_ENST00000346049.5_Missense_Mutation_p.G370S|PTK2B_ENST00000517339.1_Missense_Mutation_p.G370S|PTK2B_ENST00000420218.2_Missense_Mutation_p.G370S NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 370 apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) CTTCCTAGATGGTGAGAAGCG 0.582000 22 89 0 0 1 0 0 GPSM1 26086 broad.mit.edu 37 9 139235482 139235482 + Frame_Shift_Del DEL C C - TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr9:139235482delC ENST00000392945.3 + 9 1459 c.1239delC c.(1237-1239)ctfs p.L413fs GPSM1_ENST00000440944.1_Intron NM_015597.4 NP_056412.4 Q86YR5 GPSM1_HUMAN G-protein signaling modulator 1 0 Interaction with STK11/LKB1 (By similarity).|Mediates association with membranes (By similarity). cell differentiation|nervous system development|signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane binding|GTPase activator activity biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06) GGGTCTTGCTCCCCACAGGCA 0.687 3 3 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29113498 29113498 + RNA DEL T T - rs11366120 TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr16:29113498delT ENST00000564580.1 + 0 1360 AGGAGGTGGAttttttttttc 0.542 4 7 --- --- --- ---