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 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 0.617 23 13 --- --- --- --- 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_ENST00000362019.3_Silent_p.L423L|METTL13_ENST00000458517.1_Silent_p.L508L|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 0.527 48 70 --- --- --- --- 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_ENST00000367182.3_Intron|MDM4_ENST00000463049.1_Intron|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000391947.2_Intron|MDM4_ENST00000454264.2_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 0.313 A """GBM, bladder, retinoblastoma""" 44 68 --- --- --- --- 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 0.473 41 54 --- --- --- --- 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_ENST00000272643.3_Missense_Mutation_p.G1338D|THSD7B_ENST00000413152.2_Missense_Mutation_p.G1307D 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 0.502 9 15 --- --- --- --- 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 0.567 43 57 --- --- --- --- 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 0.338 20 43 --- --- --- --- 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 0.313 58 76 --- --- --- --- 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_ENST00000507846.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_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 0.428 4 146 --- --- --- --- 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_ENST00000504376.2_Missense_Mutation_p.S415N|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.S375N 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 0.433 HNSCC(59;0.17) 39 32 --- --- --- --- 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_ENST00000393611.2_Splice_Site|RAB24_ENST00000303251.6_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 0.537 29 44 --- --- --- --- PRSS3P2 154754 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 0.552 63 131 --- --- --- --- 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 0.368 7 213 --- --- --- --- 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 0.438 11 24 --- --- --- --- USP20 10868 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 0.682 3 43 --- --- --- --- 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 0.363 29 31 --- --- --- --- 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 ENST00000609686.1 - 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 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 0.582 49 48 --- --- --- --- 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 0.338 31 36 --- --- --- --- 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_ENST00000536525.2_Missense_Mutation_p.N641K|NAV3_ENST00000266692.7_Missense_Mutation_p.N641K|NAV3_ENST00000228327.6_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 0.388 HNSCC(70;0.22) 4 91 --- --- --- --- 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 0.622 55 75 --- --- --- --- 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|MPRIP_ENST00000444976.1_Missense_Mutation_p.L723V|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000341712.4_Missense_Mutation_p.L761V 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 0.557 21 31 --- --- --- --- 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 0.478 12 31 --- --- --- --- 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 0.537 30 7 --- --- --- --- 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 0.478 18 180 --- --- --- --- 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 0.662 4 78 --- --- --- --- 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 0.622 7 346 --- --- --- --- 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_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.A490V 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 0.532 16 30 --- --- --- --- 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)aagfs p.K622fs BCLAF1_ENST00000527759.1_Frame_Shift_Ins_p.K620fs|BCLAF1_ENST00000392348.2_Frame_Shift_Ins_p.K620fs|BCLAF1_ENST00000530767.1_Frame_Shift_Ins_p.K449fs|BCLAF1_ENST00000353331.4_Frame_Shift_Ins_p.K620fs|BCLAF1_ENST00000527536.1_Frame_Shift_Ins_p.K622fs 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 --- --- --- ---