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 KAT6A 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-P5-A5F6-01A-11D-A289-08 TCGA-P5-A5F6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc801897-1db7-480c-8e5f-7da4002fb31f 4bdadad4-7eca-457d-bd33-1183d7950589 g.chr8:41790659T>G ENST00000396930.3 - 18 5622 c.5079A>C c.(5077-5079)ccA>ccC p.P1693P KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ggggagggggtgggggtggag 0.627000 4 8 0 0 1 0 0 ACSS1 84532 broad.mit.edu 37 20 24988567 24988567 + Missense_Mutation SNP C C T rs150793632 TCGA-P5-A5F6-01A-11D-A289-08 TCGA-P5-A5F6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc801897-1db7-480c-8e5f-7da4002fb31f 4bdadad4-7eca-457d-bd33-1183d7950589 g.chr20:24988567C>T ENST00000537502.1 - 12 3183 c.1652G>A c.(1651-1653)cGt>cAt p.R551H ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000484396.1_5'UTR|ACSS1_ENST00000323482.4_Missense_Mutation_p.R634H|ACSS1_ENST00000542618.1_Missense_Mutation_p.R513H Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 634 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TTTTGGAAGACGTTTCACCAC 0.567000 6 63 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102452486 102452486 + Missense_Mutation SNP C C T TCGA-P5-A5F6-01A-11D-A289-08 TCGA-P5-A5F6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc801897-1db7-480c-8e5f-7da4002fb31f 4bdadad4-7eca-457d-bd33-1183d7950589 g.chr14:102452486C>T ENST00000360184.4 + 8 2088 c.1924C>T c.(1924-1926)Ccc>Tcc p.P642S NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 642 Interaction with DYNC1I2 (By similarity).|Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TCGTGACTTGCCCCCTGTGTC 0.532000 4 106 0 0 1 0 0 GNAI2 2771 broad.mit.edu 37 3 50290578 50290578 + Silent SNP C C T TCGA-P5-A5F6-01A-11D-A289-08 TCGA-P5-A5F6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc801897-1db7-480c-8e5f-7da4002fb31f 4bdadad4-7eca-457d-bd33-1183d7950589 g.chr3:50290578C>T ENST00000313601.6 + 4 810 c.426C>T c.(424-426)ggC>ggT p.G142G GNAI2_ENST00000422163.1_Silent_p.G126G|GNAI2_ENST00000266027.5_Silent_p.G126G|GNAI2_ENST00000536647.1_Silent_p.G61G|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000451956.1_Silent_p.G105G|GNAI2_ENST00000440628.1_Silent_p.G90G NM_002070.2 NP_002061.1 P04899 GNAI2_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 142 adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651) CCTGCTTTGGCCGCTCAAGGG 0.652000 5 261 0 0 1 0 0 KRIT1 889 broad.mit.edu 37 7 91865759 91865759 + Silent SNP T T C TCGA-P5-A5F6-01A-11D-A289-08 TCGA-P5-A5F6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc801897-1db7-480c-8e5f-7da4002fb31f 4bdadad4-7eca-457d-bd33-1183d7950589 g.chr7:91865759T>C ENST00000394507.1 - 8 1236 c.453A>G c.(451-453)acA>acG p.T151T KRIT1_ENST00000394505.2_Silent_p.T151T|KRIT1_ENST00000394503.2_Silent_p.T151T|KRIT1_ENST00000412043.2_Silent_p.T151T|KRIT1_ENST00000340022.2_Silent_p.T151T NM_194456.1 NP_919438.1 O00522 KRIT1_HUMAN KRIT1, ankyrin repeat containing 151 angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TTGCTGTAAGTGTAGCAAAAT 0.323000 6 23 0 0 1 0 0 ARID3B 10620 broad.mit.edu 37 15 74883672 74883672 + Silent SNP T T C TCGA-P5-A5F6-01A-11D-A289-08 TCGA-P5-A5F6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc801897-1db7-480c-8e5f-7da4002fb31f 4bdadad4-7eca-457d-bd33-1183d7950589 g.chr15:74883672T>C ENST00000346246.5 + 6 1293 c.1062T>C c.(1060-1062)ctT>ctC p.L354L NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 354 Interaction with RB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.L354L(1) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 CCCCTGCCCTTCTCTCCCCAC 0.647000 5 268 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-P5-A5F6-01A-11D-A289-08 TCGA-P5-A5F6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc801897-1db7-480c-8e5f-7da4002fb31f 4bdadad4-7eca-457d-bd33-1183d7950589 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 9 119 0 0 1 0 0 AMOT 154796 broad.mit.edu 37 X 112058796 112058796 + Silent SNP C C T TCGA-P5-A5F6-01A-11D-A289-08 TCGA-P5-A5F6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc801897-1db7-480c-8e5f-7da4002fb31f 4bdadad4-7eca-457d-bd33-1183d7950589 g.chrX:112058796C>T ENST00000371959.3 - 2 1181 c.1182G>A c.(1180-1182)caG>caA p.Q394Q AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000371962.1_Silent_p.Q162Q NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 394 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity p.Q394Q(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 gctgctgctgctgttgttggt 0.582000 4 47 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19473374 19473374 + Missense_Mutation SNP G G A TCGA-P5-A5F6-01A-11D-A289-08 TCGA-P5-A5F6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc801897-1db7-480c-8e5f-7da4002fb31f 4bdadad4-7eca-457d-bd33-1183d7950589 g.chr1:19473374G>A ENST00000375267.2 - 52 7753 c.7750C>T c.(7750-7752)Cgc>Tgc p.R2584C UBR4_ENST00000375217.2_Missense_Mutation_p.R2584C|UBR4_ENST00000375226.2_Missense_Mutation_p.R2595C|UBR4_ENST00000375254.3_Missense_Mutation_p.R2584C Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2584 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) TTGTTGGGGCGCATGATGGCA 0.532000 5 349 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82543925 82543925 + Silent SNP G G C TCGA-P5-A5F6-01A-11D-A289-08 TCGA-P5-A5F6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc801897-1db7-480c-8e5f-7da4002fb31f 4bdadad4-7eca-457d-bd33-1183d7950589 g.chr7:82543925G>C ENST00000437081.1 - 2 3537 c.3537C>G c.(3535-3537)ctC>ctG p.L1179L PCLO_ENST00000423517.2_Intron|PCLO_ENST00000333891.8_Intron Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 0 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TACATCTCTGGAGAAGGGAAA 0.343000 3 0 0 0 1 0 0 CES1P1 0 broad.mit.edu 37 16 55794582 55794582 + RNA SNP C C T TCGA-P5-A5F6-01A-11D-A289-08 TCGA-P5-A5F6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc801897-1db7-480c-8e5f-7da4002fb31f 4bdadad4-7eca-457d-bd33-1183d7950589 g.chr16:55794582C>T ENST00000571348.1 + 0 72 NR_003276.2 GTCCTGGCCACTCTCGCTGCT 0.607000 9 24 0 0 1 0 0 CSAG4 0 broad.mit.edu 37 X 151896589 151896589 + RNA SNP C C A TCGA-P5-A5F6-01A-11D-A289-08 TCGA-P5-A5F6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc801897-1db7-480c-8e5f-7da4002fb31f 4bdadad4-7eca-457d-bd33-1183d7950589 g.chrX:151896589C>A ENST00000361201.4 - 0 351 NR_073432.1 p.L11F(1) endometrium(2)|kidney(2)|lung(1) 5 GGTTGTTGGACAATGGGCTGG 0.557000 6 158 2.0095e-06 2.0095e-06 1 1 0 PLXNA3 55558 broad.mit.edu 37 X 153688925 153688925 + Silent SNP G G A TCGA-P5-A5F6-01A-11D-A289-08 TCGA-P5-A5F6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc801897-1db7-480c-8e5f-7da4002fb31f 4bdadad4-7eca-457d-bd33-1183d7950589 g.chrX:153688925G>A ENST00000369682.3 + 2 577 c.402G>A c.(400-402)ccG>ccA p.P134P NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 134 Sema. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGGGTGAGCCGCACCACCGCA 0.657000 4 113 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276588 186276588 + Silent SNP T T C TCGA-P5-A5F6-01A-11D-A289-08 TCGA-P5-A5F6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc801897-1db7-480c-8e5f-7da4002fb31f 4bdadad4-7eca-457d-bd33-1183d7950589 g.chr1:186276588T>C ENST00000445192.2 + 7 1782 c.1737T>C c.(1735-1737)acT>acC p.T579T PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T536T|PRG4_ENST00000367483.4_Silent_p.T538T|PRG4_ENST00000367485.4_Silent_p.T486T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 579 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T579T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTGCCCCAACTACCCCCAAGG 0.647000 19 164 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-P5-A5F6-01A-11D-A289-08 TCGA-P5-A5F6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc801897-1db7-480c-8e5f-7da4002fb31f 4bdadad4-7eca-457d-bd33-1183d7950589 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 4 96 0 0 1 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629398 1629398 + Missense_Mutation SNP C C G rs7125831 TCGA-P5-A5F6-01A-11D-A289-08 TCGA-P5-A5F6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc801897-1db7-480c-8e5f-7da4002fb31f 4bdadad4-7eca-457d-bd33-1183d7950589 g.chr11:1629398C>G ENST00000399685.1 - 1 295 c.218G>C c.(217-219)tGc>tCc p.C73S NM_001012708.2 NP_001012726.1 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 73 11 X 4 AA repeats of C-C-X-P. C -> S (in dbSNP:rs7125831). keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) GCCCCCCTTGCAGCCCCCACA 0.677000 7 197 0 0 1 0 0 CATSPER4 378807 broad.mit.edu 37 1 26524778 26524778 + Splice_Site DEL T T - TCGA-P5-A5F6-01A-11D-A289-08 TCGA-P5-A5F6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc801897-1db7-480c-8e5f-7da4002fb31f 4bdadad4-7eca-457d-bd33-1183d7950589 g.chr1:26524778delT ENST00000456354.2 + 6 747 c.678_splice c.e6-1 p.V227_splice NM_198137.1 NP_937770.1 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 227 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) CTCTGACAGGTTTTTTCCGTG 0.488 7 921 --- --- --- --- OR2T2 401992 broad.mit.edu 37 1 248616705 248616711 + Frame_Shift_Del DEL TGCTGCG TGCTGCG - TCGA-P5-A5F6-01A-11D-A289-08 TCGA-P5-A5F6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc801897-1db7-480c-8e5f-7da4002fb31f 4bdadad4-7eca-457d-bd33-1183d7950589 g.chr1:248616705_248616711delTGCTGCG ENST00000342927.3 + 1 629_635 c.607_613delTGCTGCG c.(607-615)tgfs p.CCV203fs NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGTATGCCTGCTGCGTGCTGATGCT 0.527 7 131 --- --- --- --- HTRA2 27429 broad.mit.edu 37 2 74757185 74757186 + Frame_Shift_Ins INS - - G TCGA-P5-A5F6-01A-11D-A289-08 TCGA-P5-A5F6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc801897-1db7-480c-8e5f-7da4002fb31f 4bdadad4-7eca-457d-bd33-1183d7950589 g.chr2:74757185_74757186insG ENST00000258080.3 + 1 682_683 c.52_53insG c.(52-54)ggcfs p.G18fs HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.G18fs NM_013247.4 NP_037379.1 O43464 HTRA2_HUMAN HtrA serine peptidase 2 18 apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 TCGGGCATGGCGGGCTTTGGGG 0.718 8 96 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32419951 32419953 + In_Frame_Del DEL GGT GGT - TCGA-P5-A5F6-01A-11D-A289-08 TCGA-P5-A5F6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc801897-1db7-480c-8e5f-7da4002fb31f 4bdadad4-7eca-457d-bd33-1183d7950589 g.chr5:32419951_32419953delGGT ENST00000265069.8 - 3 495_497 c.393_395delACC c.(391-396)ccc>cc p.PP131del NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 131 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) AGTAGCTGGGGGTGGTGGTGGTG 0.483 9 354 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-P5-A5F6-01A-11D-A289-08 TCGA-P5-A5F6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc801897-1db7-480c-8e5f-7da4002fb31f 4bdadad4-7eca-457d-bd33-1183d7950589 g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 13 193 --- --- --- --- RP11-170M17.1 0 broad.mit.edu 37 10 65662136 65662136 + RNA DEL T T - TCGA-P5-A5F6-01A-11D-A289-08 TCGA-P5-A5F6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc801897-1db7-480c-8e5f-7da4002fb31f 4bdadad4-7eca-457d-bd33-1183d7950589 g.chr10:65662136delT ENST00000444770.1 + 0 494 GGGCTTGCCATTTTTTTTTGA 0.368 2 4 --- --- --- --- AC012313.1 0 broad.mit.edu 37 19 58907569 58907571 + In_Frame_Del DEL AGG AGG - TCGA-P5-A5F6-01A-11D-A289-08 TCGA-P5-A5F6-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc801897-1db7-480c-8e5f-7da4002fb31f 4bdadad4-7eca-457d-bd33-1183d7950589 g.chr19:58907569_58907571delAGG ENST00000601382.1 + 1 113_115 c.113_115delAGG c.(112-117)cag>c p.38del NM_001195135.1 NP_001182064.1 GGGGAAGACCaggaggaggagga 0.724 2 4 --- --- --- ---