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 USP20 0 broad.mit.edu 37 9 132630711 132630711 + Missense_Mutation SNP G G T TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr9:132630711G>T ENST00000315480.4 + 11 1276 c.1118G>T c.(1117-1119)aGc>aTc p.S373I USP20_ENST00000372429.3_Missense_Mutation_p.S373I|USP20_ENST00000358355.1_Missense_Mutation_p.S373I Q9Y2K6 UBP20_HUMAN ubiquitin specific peptidase 20 373 endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1) 11 Ovarian(14;0.00556) CGGTCCTCCAGCCCCTGCCGG 0.682000 3 43 1 1 1 1 0 PRSS3P2 0 broad.mit.edu 37 7 142479980 142479980 + RNA SNP C C A TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr7:142479980C>A ENST00000603901.1 + 0 112 NR_001296.3 TGTCCCCTACCAGGTGTCCTT 0.552000 63 131 3.63617e-18 3.75161e-18 1 1 0 KIAA1429 25962 broad.mit.edu 37 8 95507178 95507178 + Silent SNP G G C TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr8:95507178G>C ENST00000297591.5 - 20 4626 c.4551C>G c.(4549-4551)gcC>gcG p.A1517A KIAA1429_ENST00000437199.1_3'UTR NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1517 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) CAAGCACATAGGCAGTCCTGG 0.368000 7 213 0 0 1 0 0 TRIM26 7726 broad.mit.edu 37 6 30164320 30164320 + Silent SNP C C T TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr6:30164320C>T ENST00000454678.2 - 6 1174 c.738G>A c.(736-738)gcG>gcA p.A246A TRIM26_ENST00000437089.1_Silent_p.A246A|TRIM26_ENST00000453195.1_Silent_p.A246A NM_003449.4 NP_003440.1 Q12899 TRI26_HUMAN tripartite motif containing 26 246 DNA binding|zinc ion binding lung(1)|ovary(2) 3 CTGGCTGCTGCGCCTTGCCCT 0.682000 33 34 0 0 1 0 0 BRSK1 84446 broad.mit.edu 37 19 55805438 55805438 + Missense_Mutation SNP G G A TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr19:55805438G>A ENST00000309383.1 + 5 789 c.512G>A c.(511-513)cGc>cAc p.R171H BRSK1_ENST00000590333.1_Missense_Mutation_p.R187H|BRSK1_ENST00000585418.1_Missense_Mutation_p.R171H NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 171 Protein kinase. establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) AACAACATCCGCATTGCAGAC 0.622000 7 346 0 0 1 0 0 IL1B 3553 broad.mit.edu 37 2 113593795 113593795 + Silent SNP T T C TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr2:113593795T>C ENST00000263341.2 - 2 222 c.12A>G c.(10-12)gtA>gtG p.V4V IL1B_ENST00000491056.1_5'UTR NM_000576.2 NP_000567.1 P01584 IL1B_HUMAN interleukin 1, beta 4 activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation cytosol|extracellular space cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8) 12 Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366) CGAGCTCAGGTACTTCTGCCA 0.473000 41 54 0 0 1 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6311576 6311576 + Missense_Mutation SNP G G A TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr18:6311576G>A ENST00000400104.3 - 3 249 c.49C>T c.(49-51)Cgt>Tgt p.R17C L3MBTL4_ENST00000284898.6_Missense_Mutation_p.R17C|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R17C|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R17C Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 17 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) TGATCCAAACGCTCTTTGGAA 0.478000 18 180 0 0 1 0 0 MPRIP 23164 broad.mit.edu 37 17 17075149 17075149 + Missense_Mutation SNP C C G TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr17:17075149C>G ENST00000395811.5 + 16 2370 c.2281C>G c.(2281-2283)Cta>Gta p.L761V MPRIP_ENST00000395804.3_Missense_Mutation_p.L761V|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000341712.4_Missense_Mutation_p.L761V|MPRIP_ENST00000444976.1_Missense_Mutation_p.L723V NM_015134.3|NM_201274.3 NP_055949.2|NP_958431.2 Q6WCQ1 MPRIP_HUMAN myosin phosphatase Rho interacting protein 761 Interaction with RHOA. cytoplasm|cytoskeleton actin binding biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 AGACCGCCTCCTAGCCGAGGA 0.557000 21 31 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|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 4 49 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138453022 138453022 + Missense_Mutation SNP G G A TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr4:138453022G>A ENST00000344876.4 - 1 607 c.221C>T c.(220-222)tCt>tTt p.S74F PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.S74F NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 74 Cadherin 1. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) AAGTAGAGGAGAATTTCCCCT 0.428000 4 146 0 0 1 0 0 INO80B 83444 broad.mit.edu 37 2 74683262 74683262 + Missense_Mutation SNP C C T TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr2:74683262C>T ENST00000233331.7 + 4 497 c.403C>T c.(403-405)Cgg>Tgg p.R135W INO80B_ENST00000409917.1_Missense_Mutation_p.R135W|INO80B_ENST00000469849.1_3'UTR NM_031288.3 NP_112578.2 Q9C086 IN80B_HUMAN INO80 complex subunit B 135 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|nucleolus metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 13 CTCTCCACTTCGGGACCTATC 0.512000 33 39 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21802288 21802288 + Missense_Mutation SNP C C T TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr5:21802288C>T ENST00000382254.1 - 10 2330 c.1244G>A c.(1243-1245)aGc>aAc p.S415N CDH12_ENST00000522262.1_Missense_Mutation_p.S375N|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.S415N NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 415 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 AACAGCACTGCTGCCTACATC 0.433000 HNSCC(59;0.17) 39 32 0 0 1 0 0 CDK5RAP3 80279 broad.mit.edu 37 17 46054119 46054119 + Silent SNP G G A TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr17:46054119G>A ENST00000536708.2 + 9 1024 c.915G>A c.(913-915)ggG>ggA p.G305G CDK5RAP3_ENST00000338399.4_Silent_p.G280G NM_001278197.1 NP_001265126.1 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 280 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 18 TGTCTGAGGGGACTGACTCTG 0.537000 30 7 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 6 104 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71555961 71555961 + Missense_Mutation SNP C C T TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr14:71555961C>T ENST00000304743.2 + 30 5937 c.5491C>T c.(5491-5493)Cgt>Tgt p.R1831C PCNX_ENST00000238570.5_Missense_Mutation_p.R1759C|PCNX_ENST00000439984.3_Missense_Mutation_p.R1720C NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 1831 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) AGGAGATTTCCGTATTTCTTC 0.373000 45 53 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090831 9090831 + Silent SNP A A G TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr19:9090831A>G ENST00000397910.4 - 1 1187 c.984T>C c.(982-984)ccT>ccC p.P328P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 328 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCATGGAAAAAGGGATAGCTG 0.522000 3 80 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189899824 189899824 + Missense_Mutation SNP G G A TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr2:189899824G>A ENST00000374866.3 - 53 4445 c.4171C>T c.(4171-4173)Cgc>Tgc p.R1391C NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 1391 Fibrillar collagen NC1. axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent p.R1391C(1) NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GATAAAAGGCGCAAAAAAGTC 0.398000 4 124 0 0 1 0 0 KRT27 342574 broad.mit.edu 37 17 38936652 38936652 + Missense_Mutation SNP C C T TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr17:38936652C>T ENST00000301656.3 - 3 624 c.584G>A c.(583-585)cGa>cAa p.R195Q NM_181537.3 NP_853515.2 Q7Z3Y8 K1C27_HUMAN keratin 27 195 Coil 1B.|Rod. cytoplasm|intermediate filament structural molecule activity p.R195Q(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1) 21 Breast(137;0.000812) CAGGACTCTTCGCAAACCATT 0.478000 12 31 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716213 13716213 + Missense_Mutation SNP C C T TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr12:13716213C>T ENST00000279593.3 - 13 4168 c.3959G>A c.(3958-3960)cGc>cAc p.R1320H NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1320 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GCTTACGCTGCGCGGGGCCAG 0.582000 49 48 0 0 1 0 0 FBXL14 144699 broad.mit.edu 37 12 1702154 1702154 + Missense_Mutation SNP C C T TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr12:1702154C>T ENST00000339235.3 - 1 1177 c.1079G>A c.(1078-1080)gGc>gAc p.G360D FBXL14_ENST00000543278.1_5'UTR|WNT5B_ENST00000537031.1_Intron NM_152441.2 NP_689654.1 Q8N1E6 FXL14_HUMAN F-box and leucine-rich repeat protein 14 360 cytoplasm endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 8 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00115) CAGGTCTATGCCGGTGAGTTG 0.627000 4 149 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 3 23 0 0 1 0 0 PSMB11 122706 broad.mit.edu 37 14 23511486 23511486 + Missense_Mutation SNP T T A TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr14:23511486T>A ENST00000408907.2 + 1 111 c.52T>A c.(52-54)Tca>Aca p.S18T NM_001099780.1 NP_001093250.1 A5LHX3 PSB11_HUMAN proteasome (prosome, macropain) subunit, beta type, 11 18 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|kidney(2)|lung(4) 7 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00643) CCAGGGACCATCACCTCACCT 0.622000 55 75 0 0 1 0 0 PIEZO2 63895 broad.mit.edu 37 18 10691245 10691245 + Missense_Mutation SNP C C T TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr18:10691245C>T ENST00000302079.6 - 44 6987 c.6988G>A c.(6988-6990)Gtc>Atc p.V2330I PIEZO2_ENST00000538948.1_Missense_Mutation_p.V287I|PIEZO2_ENST00000285141.4_Missense_Mutation_p.V185I|PIEZO2_ENST00000503781.3_Missense_Mutation_p.V2330I|PIEZO2_ENST00000580640.1_Missense_Mutation_p.V2355I Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2330 integral to membrane ion channel activity p.V2330I(1)|p.V185I(1) AAGAGGTTGACGTAATTGTAG 0.488000 43 28 0 0 1 0 0 MDM4 4194 broad.mit.edu 37 1 204501935 204501935 + Missense_Mutation SNP G G C TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr1:204501935G>C ENST00000367180.1 + 5 411 c.382G>C c.(382-384)Gag>Cag p.E128Q MDM4_ENST00000463049.1_Intron|MDM4_ENST00000454264.2_Intron|MDM4_ENST00000391947.2_Intron|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000367182.3_Intron O15151 MDM4_HUMAN Mdm4 p53 binding protein homolog (mouse) 0 apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization nucleus enzyme binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143) ccacgctctagagttggcaga 0.313000 A """GBM, bladder, retinoblastoma""" 44 68 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138413129 138413129 + Missense_Mutation SNP G G A TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr2:138413129G>A ENST00000409968.1 + 22 4182 c.4004G>A c.(4003-4005)gGt>gAt p.G1335D THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.G1307D|THSD7B_ENST00000272643.3_Missense_Mutation_p.G1338D thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GTCCACAGTGGTTCAATATCT 0.502000 9 15 0 0 1 0 0 NUMA1 0 broad.mit.edu 37 11 71718448 71718448 + Silent SNP G G A TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr11:71718448G>A ENST00000393695.3 - 21 5581 c.5250C>T c.(5248-5250)agC>agT p.S1750S NUMA1_ENST00000351960.6_Silent_p.S614S|NUMA1_ENST00000358965.6_Silent_p.S1736S NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1750 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 CTCCAGGGACGCTGGTGCCGT 0.577000 T RARA APL 3 29 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 64 0 0 1 0 0 TLR8 51311 broad.mit.edu 37 X 12939510 12939510 + Missense_Mutation SNP G G A TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chrX:12939510G>A ENST00000218032.6 + 2 2438 c.2351G>A c.(2350-2352)cGa>cAa p.R784Q TLR8_ENST00000311912.5_Missense_Mutation_p.R802Q NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 784 LRRCT. cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 GGAGATTTCCGAAGATGGATG 0.433000 13 74 0 0 1 0 0 ATP13A3 79572 broad.mit.edu 37 3 194146084 194146084 + Silent SNP A A G TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr3:194146084A>G ENST00000439040.1 - 30 4091 c.3300T>C c.(3298-3300)ccT>ccC p.P1100P ATP13A3_ENST00000256031.4_Silent_p.P1100P Q9H7F0 AT133_HUMAN ATPase type 13A3 1100 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) TTTTGTAGCAAGGTTGCCTGA 0.338000 20 43 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803552 142803552 + RNA SNP T T A rs141013493 by1000genomes TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr1:142803552T>A ENST00000423385.1 - 0 1413 TCCTGATGAATCTGCAGTCAG 0.269000 4 111 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 732477 732477 + Silent SNP G G A TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr9:732477G>A ENST00000382303.1 + 10 3757 c.3105G>A c.(3103-3105)gaG>gaA p.E1035E KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000382297.2_Silent_p.E1035E NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1035 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TTGAAGAAGAGGAGGAGGAGG 0.468000 4 111 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45717555 45717555 + Missense_Mutation SNP G G A TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr7:45717555G>A ENST00000297323.7 + 9 1715 c.1693G>A c.(1693-1695)Gtc>Atc p.V565I NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 565 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) GGGCACTCGCGTCAACAGGTA 0.527000 4 112 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78415542 78415542 + Missense_Mutation SNP T T A TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr12:78415542T>A ENST00000397909.2 + 9 2096 c.1923T>A c.(1921-1923)aaT>aaA p.N641K NAV3_ENST00000266692.7_Missense_Mutation_p.N641K|NAV3_ENST00000228327.6_Missense_Mutation_p.N641K|NAV3_ENST00000536525.2_Missense_Mutation_p.N641K Q8IVL0 NAV3_HUMAN neuron navigator 3 641 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ATTCAGAAAATGAAGGTACCG 0.388000 HNSCC(70;0.22) 4 91 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94316827 94316827 + Missense_Mutation SNP C C T TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr4:94316827C>T ENST00000282020.4 + 9 1573 c.1315C>T c.(1315-1317)Cgt>Tgt p.R439C GRID2_ENST00000510992.1_Missense_Mutation_p.R344C NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 439 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GAATAACATGCGTGGAGTGGT 0.393000 49 66 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166493 19166493 + Missense_Mutation SNP C C T TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr1:19166493C>T ENST00000375371.3 - 6 2141 c.2120G>A c.(2119-2121)cGt>cAt p.R707H NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 707 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity p.R707H(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GGGGTCAGTACGGGTGGTGGG 0.557000 20 97 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 62 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38763822 38763822 + Missense_Mutation SNP C C A TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr3:38763822C>A ENST00000449082.2 - 19 3433 c.3434G>T c.(3433-3435)tGc>tTc p.C1145F NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1145 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GATACGGTAGCAAGTCTTGCG 0.567000 43 57 3.43241e-23 3.5985e-23 1 1 0 TWF1 5756 broad.mit.edu 37 12 44190803 44190803 + Missense_Mutation SNP T T A TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr12:44190803T>A ENST00000395510.2 - 8 987 c.858A>T c.(856-858)caA>caT p.Q286H TWF1_ENST00000548315.1_Missense_Mutation_p.Q293H|TWF1_ENST00000325127.4_Missense_Mutation_p.Q320H|TWF1_ENST00000552521.1_Missense_Mutation_p.Q188H NM_001242397.1|NM_002822.4 NP_001229326.1|NP_002813.3 Q12792 TWF1_HUMAN twinfilin actin-binding protein 1 286 ADF-H 2. actin cytoskeleton|cytoplasm actin binding|protein tyrosine kinase activity endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1) 14 all_cancers(12;0.00125) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.0474) CCATTTGTAGTTGTCTTTCTA 0.338000 31 36 0 0 1 0 0 PC 5091 broad.mit.edu 37 11 66620019 66620019 + Silent SNP G G A TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr11:66620019G>A ENST00000393960.1 - 15 1997 c.1716C>T c.(1714-1716)gaC>gaT p.D572D PC_ENST00000393958.2_Silent_p.D572D|PC_ENST00000393955.2_Silent_p.D572D NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 572 Carboxyltransferase.|Substrate binding. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity p.D572D(1) cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) ACTGGTGGGCGTCCCTGAAGG 0.602000 8 87 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653389 159653389 + Silent SNP G G A TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr6:159653389G>A ENST00000297267.9 + 11 2045 c.1845G>A c.(1843-1845)tcG>tcA p.S615S FNDC1_ENST00000340366.6_Silent_p.S552S NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 615 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CGCCCCCCTCGGCTTCGGCCT 0.677000 24 46 0 0 1 0 0 PCSK2 5126 broad.mit.edu 37 20 17462324 17462324 + Missense_Mutation SNP C C T TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr20:17462324C>T ENST00000262545.2 + 12 1841 c.1526C>T c.(1525-1527)gCt>gTt p.A509V PCSK2_ENST00000536609.1_Missense_Mutation_p.A474V|PCSK2_ENST00000377899.1_Missense_Mutation_p.A490V|PCSK2_ENST00000459871.1_3'UTR NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 509 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CATGTCCAGGCTGTCATCACG 0.532000 16 30 0 0 1 0 0 CTSC 1075 broad.mit.edu 37 11 88068157 88068157 + Missense_Mutation SNP T T A TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr11:88068157T>A ENST00000524463.1 - 2 354 c.266A>T c.(265-267)aAc>aTc p.N89I CTSC_ENST00000227266.5_Missense_Mutation_p.N89I|CTSC_ENST00000529974.1_Missense_Mutation_p.N89I|CTSC_ENST00000393301.4_5'UTR NM_001114173.1|NM_148170.3 NP_001107645.1|NP_680475.1 P53634 CATC_HUMAN cathepsin C 89 immune response lysosome cysteine-type endopeptidase activity large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2) 22 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AAAGCCTTGGTTGTAAATGAT 0.363000 29 31 0 0 1 0 0 PPP1R14C 81706 broad.mit.edu 37 6 150569907 150569907 + Missense_Mutation SNP G G A TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr6:150569907G>A ENST00000361131.4 + 4 566 c.449G>A c.(448-450)cGg>cAg p.R150Q NM_030949.2 NP_112211.1 Q8TAE6 PP14C_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 14C 150 regulation of phosphorylation cytoplasm|membrane p.R150Q(1) endometrium(1)|large_intestine(1)|prostate(1) 3 Ovarian(120;0.0284) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;9.14e-12) CTGCTTTCTCGGATAAGAGGC 0.393000 26 27 0 0 1 0 0 CPSF7 79869 broad.mit.edu 37 11 61183967 61183967 + Missense_Mutation SNP C C T TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr11:61183967C>T ENST00000340437.4 - 6 784 c.704G>A c.(703-705)cGa>cAa p.R235Q CPSF7_ENST00000394888.4_Missense_Mutation_p.R192Q|CPSF7_ENST00000439958.3_Missense_Mutation_p.R183Q|CPSF7_ENST00000448745.1_Missense_Mutation_p.R183Q NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 192 Pro-rich. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding p.R192L(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 ACTAGAATCTCGGGAATGGGC 0.522000 56 62 0 0 1 0 0 HIST1H2BO 8348 broad.mit.edu 37 6 27861401 27861401 + Missense_Mutation SNP G G A TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr6:27861401G>A ENST00000303806.4 + 1 199 c.161G>A c.(160-162)gGc>gAc p.G54D NM_003527.4 NP_003518.2 P23527 H2B1O_HUMAN histone cluster 1, H2bo 54 nucleosome assembly nucleosome|nucleus DNA binding CCCGACACCGGCATCTCATCG 0.557000 4 230 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 731264 731264 + Silent SNP A A C TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr9:731264A>C ENST00000382303.1 + 9 3655 c.3003A>C c.(3001-3003)ggA>ggC p.G1001G KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.G843G|KANK1_ENST00000382297.2_Silent_p.G1001G NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1001 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) GCATTAATGGAGGGTAAGGAA 0.438000 11 24 0 0 1 0 0 EGF 1950 broad.mit.edu 37 4 110864507 110864507 + Missense_Mutation SNP T T G TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr4:110864507T>G ENST00000265171.5 + 3 870 c.425T>G c.(424-426)gTa>gGa p.V142G EGF_ENST00000509793.1_Missense_Mutation_p.V142G|EGF_ENST00000503392.1_Missense_Mutation_p.V142G|EGF_ENST00000502723.1_3'UTR NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 142 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) ATCATTACAGTAACAGATATG 0.313000 58 76 0 0 1 0 0 METTL13 51603 broad.mit.edu 37 1 171761209 171761209 + Silent SNP C C T TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr1:171761209C>T ENST00000361735.3 + 6 1793 c.1527C>T c.(1525-1527)ctC>ctT p.L509L METTL13_ENST00000458517.1_Silent_p.L508L|METTL13_ENST00000362019.3_Silent_p.L423L|METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000367737.5_Silent_p.L353L NM_015935.4 NP_057019.3 Q8N6R0 MTL13_HUMAN methyltransferase like 13 509 methyltransferase activity|protein binding breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3) 41 GCCTCCCCCTCTTTGTCCACG 0.527000 48 70 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20644850 20644850 + RNA SNP G G A TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr15:20644850G>A ENST00000428453.1 - 0 3097 p.A803V(4) central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CATGTCCCTCGCCCTTTCGGT 0.463000 3 19 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73437370 73437370 + Missense_Mutation SNP G G A TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr10:73437370G>A ENST00000224721.6 + 15 1692 c.1687G>A c.(1687-1689)Gtg>Atg p.V563M CDH23_ENST00000299366.7_Missense_Mutation_p.V603M NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 558 Cadherin 6. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CAACGACAACGTGCCCACCTT 0.632000 8 6 0 0 1 0 0 HTR1A 3350 broad.mit.edu 37 5 63256592 63256592 + Missense_Mutation SNP C C T TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr5:63256592C>T ENST00000323865.3 - 1 1188 c.955G>A c.(955-957)Gcc>Acc p.A319T RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 319 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TCGAAAGAGGCGGGGGCACAA 0.632000 6 69 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4772618 4772618 + Missense_Mutation SNP A A G TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr1:4772618A>G ENST00000378191.4 + 2 1069 c.688A>G c.(688-690)Acg>Gcg p.T230A AJAP1_ENST00000378190.3_Missense_Mutation_p.T230A NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 230 Thr-rich. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) cacccccaTGACGCTGCAGAC 0.617000 23 13 0 0 1 0 0 RAB24 53917 broad.mit.edu 37 5 176728925 176728925 + Splice_Site SNP C C G TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr5:176728925C>G ENST00000303270.6 - 6 1063 c.e6+1 RAB24_ENST00000303251.6_Splice_Site|RAB24_ENST00000393611.2_Splice_Site Q969Q5 RAB24_HUMAN RAB24, member RAS oncogene family autophagy|protein transport|small GTPase mediated signal transduction cytosol|membrane GTP binding|protein binding p.?(1) all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAAGCACACACCTGTCATCAC 0.537000 29 44 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44561290 44561290 + Missense_Mutation SNP C C T TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr18:44561290C>T ENST00000332567.4 - 1 698 c.346G>A c.(346-348)Gcg>Acg p.A116T KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 116 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding p.A116T(1) breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GGGGCCGTCGCGTTTTCTGGG 0.662000 4 78 0 0 1 0 0 RP11-584P21.2 0 broad.mit.edu 37 4 68311853 68311855 + RNA DEL GAG GAG - TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr4:68311853_68311855delGAG ENST00000502400.1 - 0 34 TCTCTATGGCGAGGAGGAGGAGG 0.547 3 6 --- --- --- --- ZDHHC11 79844 broad.mit.edu 37 5 840577 840577 + Frame_Shift_Del DEL G G - TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr5:840577delG ENST00000511539.1 - 2 282 c.178delC c.(178-180)aafs p.Q60fs ZDHHC11_ENST00000283441.8_Intron|ZDHHC11_ENST00000503758.2_Intron|ZDHHC11_ENST00000424784.2_Intron Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 0 integral to membrane acyltransferase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) ACCCAGCCTTGGGGGGATCGG 0.602 11 103 --- --- --- --- BCLAF1 9774 broad.mit.edu 37 6 136594312 136594313 + Frame_Shift_Ins INS - - TTGAAGTATTGCTCTG TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr6:136594312_136594313insTTGAAGTATTGCTCTG ENST00000531224.1 - 7 2117_2118 c.1865_1866insCAGAGCAATACTTCAA c.(1864-1866)atcfs p.I622fs BCLAF1_ENST00000527759.1_Frame_Shift_Ins_p.I620fs|BCLAF1_ENST00000530767.1_Frame_Shift_Ins_p.I449fs|BCLAF1_ENST00000527536.1_Frame_Shift_Ins_p.I622fs|BCLAF1_ENST00000392348.2_Frame_Shift_Ins_p.I620fs|BCLAF1_ENST00000353331.4_Frame_Shift_Ins_p.I620fs NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 622 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TTGCAGCTGACTTGAAGTATTG 0.401 11 259 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150814 65150815 + RNA INS - - C TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr7:65150814_65150815insC ENST00000430126.2 + 0 757 TCTTCATCCCTCACCCCCCCCC 0.460 2 4 --- --- --- --- STAG3L2 0 broad.mit.edu 37 7 74300804 74300804 + RNA DEL A A - TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr7:74300804delA ENST00000423186.1 - 0 499 P0CL84 ST3L2_HUMAN nucleus binding breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CTTCATACTTAAAAAAAAAAA 0.458 2 4 --- --- --- --- TRBV29-1 0 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f032fb5f-6499-4cd4-82c5-fec6bdb5caad e4ae4cc7-3295-4d4c-a51b-d65f5ad626d6 g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 4 6 --- --- --- ---