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 RPS6KA5 9252 broad.mit.edu 37 14 91338482 91338482 + Missense_Mutation SNP G G T TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr14:91338482G>T ENST00000261991.3 - 17 2518 c.2345C>A c.(2344-2346)cCc>cAc p.P782H RPS6KA5_ENST00000536315.2_Missense_Mutation_p.P703H NM_004755.2 NP_004746.2 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 5 782 axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) AGGATTGCTGGGCTGCAGTGT 0.522000 80 39 5.72124e-26 6.02236e-26 1 1 0 PKN1 5585 broad.mit.edu 37 19 14574926 14574926 + Silent SNP G G A TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr19:14574926G>A ENST00000242783.6 + 12 1857 c.1692G>A c.(1690-1692)caG>caA p.Q564Q PKN1_ENST00000342216.4_Silent_p.Q570Q NM_002741.3 NP_002732.3 Q16512 PKN1_HUMAN protein kinase N1 564 activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1) 31 GCTCACCTCAGAAGAGCTCGC 0.647000 49 57 0 0 1 0 0 OLIG3 167826 broad.mit.edu 37 6 137814559 137814559 + Missense_Mutation SNP G G A TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr6:137814559G>A ENST00000367734.2 - 1 972 c.749C>T c.(748-750)cCg>cTg p.P250L NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 250 Poly-Pro. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) GGACAGGTGCGGCGGCGGCGG 0.716000 7 6 0 0 1 0 0 FDXR 2232 broad.mit.edu 37 17 72868221 72868221 + Silent SNP G G A TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr17:72868221G>A ENST00000442102.2 - 2 203 c.117C>T c.(115-117)ccC>ccT p.P39P FDXR_ENST00000413947.2_Silent_p.P70P|FDXR_ENST00000420580.2_Silent_p.P39P|FDXR_ENST00000581530.1_Silent_p.P39P|FDXR_ENST00000293195.5_Silent_p.P39P|FDXR_ENST00000582944.1_Silent_p.P39P|FDXR_ENST00000583917.1_Silent_p.P39P|FDXR_ENST00000455107.2_5'UTR NM_001258012.1 NP_001244941.1 P22570 ADRO_HUMAN ferredoxin reductase 39 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) CACAGATCTGGGGGGTCTTCT 0.547000 11 22 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31581747 31581747 + Missense_Mutation SNP T T A TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr14:31581747T>A ENST00000399332.1 - 35 6641 c.6153A>T c.(6151-6153)gaA>gaT p.E2051D HECTD1_ENST00000553700.1_Missense_Mutation_p.E2051D NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 2051 K-box. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) GTGCCAATGGTTCCTGCGAAT 0.378000 36 36 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520392 33520392 + Missense_Mutation SNP G G C TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr17:33520392G>C ENST00000297307.5 - 1 1020 c.935C>G c.(934-936)gCg>gGg p.A312G NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 312 DUF6 2. integral to membrane p.A312G(4) AACCCCTGCCGCCACGATGTC 0.567000 5 138 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274214 39274214 + Missense_Mutation SNP G G C TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr17:39274214G>C ENST00000391413.2 - 1 392 c.354C>G c.(352-354)agC>agG p.S118R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 118 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) gtctgcagcagctggacacac 0.652000 6 46 0 0 1 0 0 BAG3 9531 broad.mit.edu 37 10 121436654 121436654 + Missense_Mutation SNP G G A rs144678100 byFrequency TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr10:121436654G>A ENST00000369085.3 + 4 1894 c.1588G>A c.(1588-1590)Gtg>Atg p.V530M NM_004281.3 NP_004272.2 O95817 BAG3_HUMAN BCL2-associated athanogene 3 530 anti-apoptosis|apoptosis|protein folding cytosol endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) GATGGGTGCCGTGGCAGCAGA 0.542000 4 92 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106082536 106082536 + Splice_Site SNP A A G TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chrX:106082536A>G ENST00000357242.5 + 8 1377 c.e8-1 TBC1D8B_ENST00000310452.2_Splice_Site|TBC1D8B_ENST00000276175.3_Intron NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TTTCTTTTTCAGCTTGCTATT 0.363000 4 95 0 0 1 0 0 DHTKD1 55526 broad.mit.edu 37 10 12162226 12162226 + Missense_Mutation SNP C C G TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr10:12162226C>G ENST00000263035.4 + 16 2680 c.2618C>G c.(2617-2619)tCg>tGg p.S873W NM_018706.5 NP_061176.3 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 873 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) GGTCCGTGGTCGTTTGTTTCT 0.443000 78 100 0 0 1 0 0 ARID3C 138715 broad.mit.edu 37 9 34622507 34622507 + Missense_Mutation SNP G G T TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr9:34622507G>T ENST00000378909.2 - 5 977 c.885C>A c.(883-885)aaC>aaA p.N295K NM_001017363.1 NP_001017363.1 A6NKF2 ARI3C_HUMAN AT rich interactive domain 3C (BRIGHT-like) 295 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 14 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) CCAGACAAGGGTTTGGAATTC 0.572000 31 39 6.84511e-11 6.84511e-11 1 1 0 KRTAP6-2 337967 broad.mit.edu 37 21 31971176 31971176 + Silent SNP G G A TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr21:31971176G>A ENST00000334897.3 - 1 43 c.18C>T c.(16-18)taC>taT p.Y6Y NM_181604.1 NP_853635.1 Q3LI66 KRA62_HUMAN keratin associated protein 6-2 6 intermediate filament endometrium(2)|kidney(1)|large_intestine(4)|lung(4) 11 AGTAGTTTCCGTAGTAGCTGC 0.522000 30 40 0 0 1 0 0 PRG2 5553 broad.mit.edu 37 11 57154992 57154992 + Nonsense_Mutation SNP G G A rs143145891 TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr11:57154992G>A ENST00000311862.5 - 6 698 c.625C>T c.(625-627)Cga>Tga p.R209* PRG2_ENST00000533605.1_Nonsense_Mutation_p.R198*|PRG2_ENST00000525955.1_Nonsense_Mutation_p.R209* NM_001243245.1|NM_002728.4 NP_001230174.1|NP_002719.3 proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGTGGGCTCGACGCCAGTGG 0.592000 52 33 0 0 1 0 0 NR1H4 9971 broad.mit.edu 37 12 100904692 100904692 + Silent SNP C C T TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr12:100904692C>T ENST00000548884.1 + 4 757 c.216C>T c.(214-216)ttC>ttT p.F72F NR1H4_ENST00000392986.3_Silent_p.F72F|NR1H4_ENST00000188403.7_Silent_p.F82F|NR1H4_ENST00000549996.1_Silent_p.F72F|NR1H4_ENST00000551379.1_Silent_p.F82F NM_001206977.1|NM_001206979.1|NM_005123.3 NP_001193906.1|NP_001193908.1|NP_005114.1 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 82 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 ACCTGGGTTTCTACCCCCAGC 0.483000 34 48 0 0 1 0 0 DUOX1 53905 broad.mit.edu 37 15 45440569 45440569 + Silent SNP A A G TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr15:45440569A>G ENST00000321429.4 + 22 3149 c.2742A>G c.(2740-2742)gaA>gaG p.E914E DUOX1_ENST00000389037.3_Silent_p.E914E|DUOX1_ENST00000561166.1_Silent_p.E560E NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 914 EF-hand 3. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) ACAAGGAGGAACTGACATGGG 0.572000 4 75 0 0 1 0 0 TFR2 7036 broad.mit.edu 37 7 100238453 100238453 + Missense_Mutation SNP G G A rs139318596 TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr7:100238453G>A ENST00000462107.1 - 4 616 c.329C>T c.(328-330)gCg>gTg p.A110V TFR2_ENST00000431692.1_Missense_Mutation_p.A110V|TFR2_ENST00000223051.3_Missense_Mutation_p.A110V Q9UP52 TFR2_HUMAN transferrin receptor 2 110 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GTCTCCGCACGCCTGGCAGGA 0.592000 25 35 0 0 1 0 0 DOCK9 23348 broad.mit.edu 37 13 99533880 99533880 + Splice_Site SNP C C T TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr13:99533880C>T ENST00000376460.1 - 25 2757 c.2675_splice c.e25-1 p.V893_splice DOCK9_ENST00000448493.2_Splice_Site_p.V905_splice|DOCK9_ENST00000339416.2_Splice_Site_p.V894_splice|DOCK9_ENST00000442173.1_Splice_Site_p.V893_splice NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 894 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TGAATAATGACCCTACACACC 0.388000 3 8 0 0 1 0 0 MATN4 8785 broad.mit.edu 37 20 43933259 43933259 + Silent SNP G G A TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr20:43933259G>A ENST00000537548.1 - 4 496 c.252C>T c.(250-252)agC>agT p.S84S MATN4_ENST00000372754.1_Silent_p.S84S|MATN4_ENST00000372756.1_Silent_p.S84S|MATN4_ENST00000342716.4_Silent_p.S84S|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000360607.5_Silent_p.S84S|MATN4_ENST00000353917.5_Silent_p.S84S O95460 MATN4_HUMAN matrilin 4 84 VWFA 1. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) GAGGGAAGACGCTCTGCACTT 0.652000 23 26 0 0 1 0 0 PRKACB 5567 broad.mit.edu 37 1 84647929 84647929 + Missense_Mutation SNP C C G TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr1:84647929C>G ENST00000370689.2 + 3 419 c.155C>G c.(154-156)aCa>aGa p.T52R PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000370680.1_Missense_Mutation_p.T58R|PRKACB_ENST00000370685.3_Missense_Mutation_p.T99R|PRKACB_ENST00000394838.2_Missense_Mutation_p.T59R|PRKACB_ENST00000370688.3_Missense_Mutation_p.T52R|PRKACB_ENST00000370682.3_Missense_Mutation_p.T56R|PRKACB_ENST00000394839.2_Missense_Mutation_p.T55R NM_001242862.1|NM_002731.2 NP_001229791.1|NP_002722.1 P22694 KAPCB_HUMAN protein kinase, cAMP-dependent, catalytic, beta 52 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1) 16 all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141) ACCCTTGGAACAGGTTCATTT 0.323000 41 8 0 0 1 0 0 GLOD4 51031 broad.mit.edu 37 17 680227 680227 + Splice_Site SNP G G T TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr17:680227G>T ENST00000301329.6 - 3 227 c.140_splice c.e3-1 p.P48_splice GLOD4_ENST00000301328.5_Splice_Site_p.P63_splice|GLOD4_ENST00000536578.1_Splice_Site_p.P39_splice NM_016080.3 NP_057164.3 Q9HC38 GLOD4_HUMAN glyoxalase domain containing 4 63 mitochondrion endometrium(1)|large_intestine(1)|prostate(1) 3 UCEC - Uterine corpus endometrioid carcinoma (25;0.022) CCATCATAAGGCCTAGAAAAT 0.453000 35 38 2.20262e-25 2.2591e-25 1 1 0 UBR4 23352 broad.mit.edu 37 1 19481549 19481549 + Silent SNP C C G TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr1:19481549C>G ENST00000375267.2 - 44 6324 c.6321G>C c.(6319-6321)gcG>gcC p.A2107A UBR4_ENST00000375226.2_Silent_p.A2107A|UBR4_ENST00000375217.2_Silent_p.A2107A|UBR4_ENST00000375254.3_Silent_p.A2107A Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2107 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CACCACCGCCCGCCACCTGGC 0.483000 36 58 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520358 33520358 + Silent SNP A A G rs74740601 by1000genomes TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr17:33520358A>G ENST00000297307.5 - 1 1054 c.969T>C c.(967-969)atT>atC p.I323I NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 323 DUF6 2. integral to membrane p.I323I(1) TCTGGGCTGTAATGATGGCAA 0.547000 4 101 0 0 1 0 0 LARP4B 23185 broad.mit.edu 37 10 890943 890943 + Missense_Mutation SNP T T G TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr10:890943T>G ENST00000316157.3 - 5 523 c.483A>C c.(481-483)aaA>aaC p.K161N NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 161 HTH La-type RNA-binding. nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 CCAATGTTTTTTTAAGTACTT 0.358000 44 47 0 0 1 0 0 IVL 3713 broad.mit.edu 37 1 152883994 152883994 + Missense_Mutation SNP A A G TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr1:152883994A>G ENST00000368764.3 + 2 1785 c.1721A>G c.(1720-1722)cAg>cGg p.Q574R IVL_ENST00000392667.2_Missense_Mutation_p.Q428R P07476 INVO_HUMAN involucrin 574 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CACCAGCAGCAGAAGCAGGAG 0.567000 19 37 0 0 1 0 0 SOX5 6660 broad.mit.edu 37 12 23818383 23818383 + Missense_Mutation SNP C C A TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr12:23818383C>A ENST00000546136.1 - 6 889 c.887G>T c.(886-888)gGa>gTa p.G296V SOX5_ENST00000545921.1_Missense_Mutation_p.G299V|SOX5_ENST00000451604.2_Missense_Mutation_p.G309V|SOX5_ENST00000541536.1_Missense_Mutation_p.G296V|SOX5_ENST00000381381.2_Missense_Mutation_p.G296V|SOX5_ENST00000537393.1_Missense_Mutation_p.G274V|SOX5_ENST00000309359.1_Missense_Mutation_p.G296V P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 309 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 CTTACTACATCCAGCCTTATA 0.478000 95 118 3.82633e-55 4.13657e-55 1 1 0 NOP58 51602 broad.mit.edu 37 2 203155921 203155921 + Silent SNP A A C TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr2:203155921A>C ENST00000264279.5 + 8 934 c.708A>C c.(706-708)gcA>gcC p.A236A NM_015934.3 NP_057018.1 Q9Y2X3 NOP58_HUMAN NOP58 ribonucleoprotein 236 KAAAEISMGTEVSEEDICNILHLCTQ -> EGSCRDIHGNR GFRRRYLQYSASLHP (in Ref. 6; AAF29084). cell growth|rRNA processing|snRNP protein import into nucleus box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex protein binding|snoRNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2) 16 AAGTGAAAGCAGCTGCAGAGA 0.433000 48 62 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22364263 22364263 + Missense_Mutation SNP T T C TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr19:22364263T>C ENST00000397121.2 - 3 573 c.256A>G c.(256-258)Acc>Gcc p.T86A NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 86 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TCCACATTGGTACAACTAATT 0.338000 56 76 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7417036 7417036 + Missense_Mutation SNP A A G TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr17:7417036A>G ENST00000322644.6 + 29 5852 c.5453A>G c.(5452-5454)tAt>tGt p.Y1818C NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 1818 52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN]. mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) TCTCCAACCTATACCCCAAGC 0.582000 117 147 0 0 1 0 0 OR52I2 143502 broad.mit.edu 37 11 4608623 4608623 + Missense_Mutation SNP G G C TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr11:4608623G>C ENST00000312614.4 + 1 603 c.581G>C c.(580-582)aGt>aCt p.S194T NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGATGGTGAGTCATCTACCT 0.507000 50 42 0 0 1 0 0 EPOR 2057 broad.mit.edu 37 19 11492639 11492639 + Nonsense_Mutation SNP G G A TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr19:11492639G>A ENST00000592375.2 - 3 498 c.394C>T c.(394-396)Cga>Tga p.R132* EPOR_ENST00000222139.6_Nonsense_Mutation_p.R132* P19235 EPOR_HUMAN erythropoietin receptor 132 extracellular region|integral to plasma membrane erythropoietin receptor activity|identical protein binding endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) CGGTGATATCGCGGAGCGCCG 0.617000 OREG0025255 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 27 0 0 1 0 0 TMEM57 55219 broad.mit.edu 37 1 25775375 25775375 + Frame_Shift_Del DEL T T - TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr1:25775375delT ENST00000374343.4 + 3 478 c.299delT c.(298-300)ctfs p.L100fs TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Frame_Shift_Del_p.L100fs NM_018202.4 NP_060672.2 Q8N5G2 MACOI_HUMAN transmembrane protein 57 100 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) ATACAGTGGCTTTTTTTTGCT 0.343 7 109 --- --- --- --- SUSD4 55061 broad.mit.edu 37 1 223536702 223536703 + In_Frame_Ins INS - - TGC rs143929528 by1000genomes TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr1:223536702_223536703insTGC ENST00000343846.3 - 1 698_699 c.65_66insGCA c.(64-66)ccc>cGCAcc p.22_22P>RT SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000366878.4_In_Frame_Ins_p.22_22P>RT|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000344029.6_In_Frame_Ins_p.22_22P>RT|SUSD4_ENST00000366877.3_In_Frame_Ins_p.22_22P>RT|SUSD4_ENST00000342943.3_In_Frame_Ins_p.22_22P>RT Q5VX71 SUSD4_HUMAN sushi domain containing 4 22 integral to membrane p.Q22R(2)|p.Q22delQ(2) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) GGGACTGAGGTtgctgctgctg 0.574 4 7 --- --- --- --- SEMA3F 6405 broad.mit.edu 37 3 50212532 50212532 + Frame_Shift_Del DEL A A - TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr3:50212532delA ENST00000002829.3 + 6 944 c.460delA c.(460-462)cafs p.T154fs SEMA3F_ENST00000434342.1_Intron|SEMA3F_ENST00000413852.1_Intron NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 154 Sema. Missing (in Ref. 2). axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) TTCTCAGGCCACACCATGGAC 0.687 2 4 --- --- --- --- TMA16 55319 broad.mit.edu 37 4 164428219 164428219 + Frame_Shift_Del DEL A A - TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr4:164428219delA ENST00000358572.5 + 2 379 c.38delA c.(37-39)gafs p.E13fs TMA16_ENST00000513134.1_Frame_Shift_Del_p.E13fs|TMA16_ENST00000513272.1_Frame_Shift_Del_p.E13fs|TMA16_ENST00000508268.1_Frame_Shift_Del_p.E13fs|TMA16_ENST00000511562.1_3'UTR NM_018352.2 NP_060822.2 Q96EY4 CD043_HUMAN translation machinery associated 16 homolog (S. cerevisiae) 13 GCAGGACGGGAAAAAAAAGTC 0.363 2 4 --- --- --- --- EPC1 80314 broad.mit.edu 37 10 32581929 32581930 + Frame_Shift_Ins INS - - T TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr10:32581929_32581930insT ENST00000319778.6 - 4 954_955 c.652_653insA c.(652-654)gcafs p.A218fs EPC1_ENST00000263062.8_Frame_Shift_Ins_p.A218fs|EPC1_ENST00000375110.2_Frame_Shift_Ins_p.A168fs NM_001272004.1|NM_001272019.1 NP_001258933.1|NP_001258948.1 Q9H2F5 EPC1_HUMAN enhancer of polycomb homolog 1 (Drosophila) 218 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1) 24 Prostate(175;0.0199) TCGAGTCTGCATTTTTTCAGTA 0.322 33 39 --- --- --- --- PTPN5 84867 broad.mit.edu 37 11 18764923 18764924 + Frame_Shift_Ins INS - - T TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr11:18764923_18764924insT ENST00000358540.2 - 5 774_775 c.344_345insA c.(343-345)agcfs p.S115fs PTPN5_ENST00000396168.1_Frame_Shift_Ins_p.S91fs|PTPN5_ENST00000396171.4_Frame_Shift_Ins_p.S115fs|PTPN5_ENST00000396170.1_Intron|PTPN5_ENST00000396167.2_Intron|PTPN5_ENST00000477854.1_5'UTR|PTPN5_ENST00000496201.2_5'UTR NM_006906.1 NP_008837.1 P54829 PTN5_HUMAN protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) 115 integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 GGTTTGTGGCGTTCTGTGACCA 0.604 45 75 --- --- --- --- GAS6 2621 broad.mit.edu 37 13 114550011 114550012 + Frame_Shift_Ins INS - - TCCC TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr13:114550011_114550012insTCCC ENST00000355761.4 - 1 44_45 c.45_46insGGGA c.(43-48)gggtctfs p.S16fs GAS6_ENST00000327773.6_Intron|GAS6_ENST00000357389.3_Intron Q14393 GAS6_HUMAN growth arrest-specific 6 0 cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen calcium ion binding|receptor agonist activity central_nervous_system(4)|ovary(1) 5 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) GACAGCAGACATCCCGCTAGGG 0.614 4 6 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372915 74372915 + RNA DEL T T - rs67181940 TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr16:74372915delT ENST00000429810.2 - 0 1404 ACGTAGtttgttttttttttt 0.438 3 3 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11049520 11049520 + RNA DEL C C - TCGA-QT-A5XJ-01A-11D-A35D-08 TCGA-QT-A5XJ-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec08ec68-ebde-4429-93af-4578fc2fd8aa e50d344a-a901-4193-81dc-d3697deedacf g.chr21:11049520delC ENST00000470054.1 - 0 588 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACCGCTGTATCCAGGCACATT 0.458 9 190 --- --- --- ---