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 PRKDC 5591 broad.mit.edu 37 8 48690415 48690415 + Missense_Mutation SNP C C A TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr8:48690415C>A ENST00000314191.2 - 85 11927 c.11871G>T c.(11869-11871)ttG>ttT p.L3957F PRKDC_ENST00000338368.3_Missense_Mutation_p.L3926F|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 3958 PI3K/PI4K. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GAAAAGGCATCAACTCAGGGA 0.468000 Non-homologous end-joining 7 14 0.27861 0.28614 1 1 0 GLCE 26035 broad.mit.edu 37 15 69553493 69553493 + Silent SNP A A T TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr15:69553493A>T ENST00000261858.2 + 4 882 c.654A>T c.(652-654)ggA>ggT p.G218G GLCE_ENST00000559500.1_3'UTR|GLCE_ENST00000559420.2_Silent_p.G154G NM_015554.1 NP_056369.1 O94923 GLCE_HUMAN glucuronic acid epimerase 218 heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process Golgi membrane|integral to membrane UDP-glucuronate 5'-epimerase activity NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 18 CACAGTATGGATTAAGTCATT 0.373000 17 78 0 0 1 0 0 INPPL1 3636 broad.mit.edu 37 11 71946489 71946489 + Missense_Mutation SNP C C T TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr11:71946489C>T ENST00000541756.1 + 23 2857 c.1927C>T c.(1927-1929)Ctc>Ttc p.L643F INPPL1_ENST00000538751.1_Missense_Mutation_p.L643F|INPPL1_ENST00000298229.2_Missense_Mutation_p.L885F O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 885 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 CCGTGAGCGGCTCTACGGTGG 0.617000 17 96 0 0 1 0 0 PQLC2 54896 broad.mit.edu 37 1 19653727 19653727 + Missense_Mutation SNP C C T TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr1:19653727C>T ENST00000375153.3 + 7 1265 c.625C>T c.(625-627)Cgg>Tgg p.R209W PQLC2_ENST00000400548.2_Missense_Mutation_p.R144W|PQLC2_ENST00000375155.3_Missense_Mutation_p.R209W NM_001040125.1 NP_001035214.1 Q6ZP29 PQLC2_HUMAN PQ loop repeat containing 2 209 PQ-loop 2. integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CCAGTTCCTCCGGAAGTCCAC 0.597000 7 49 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 40 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39781228 39781228 + Missense_Mutation SNP C C T TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr1:39781228C>T ENST00000564288.1 + 27 4091 c.3314C>T c.(3313-3315)gCa>gTa p.A1105V MACF1_ENST00000317713.7_Missense_Mutation_p.A1110V|MACF1_ENST00000372915.3_Missense_Mutation_p.A1110V|MACF1_ENST00000545844.1_Missense_Mutation_p.A1110V|MACF1_ENST00000539005.1_Missense_Mutation_p.A1110V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.A1142V|MACF1_ENST00000361689.2_Missense_Mutation_p.A1110V Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 1110 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GACTTGGATGCAGTTTCTATG 0.453000 20 97 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49420109 49420109 + Missense_Mutation SNP G G A TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr12:49420109G>A ENST00000301067.7 - 48 15639 c.15640C>T c.(15640-15642)Cgc>Tgc p.R5214C NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.R5214C(1)|p.R4944C(1) CAATAGATGCGCGTGGCCTCG 0.577000 8 30 0 0 1 0 0 RPTOR 57521 broad.mit.edu 37 17 78831653 78831653 + Missense_Mutation SNP C C G TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr17:78831653C>G ENST00000306801.3 + 13 1824 c.1462C>G c.(1462-1464)Cgg>Ggg p.R488G RPTOR_ENST00000537330.1_Missense_Mutation_p.R303G|RPTOR_ENST00000544334.2_Missense_Mutation_p.R488G|RPTOR_ENST00000575542.1_3'UTR NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 488 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 CCGAGAGCTGCGGCCACTTCT 0.652000 5 30 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22940373 22940373 + Missense_Mutation SNP T T C TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr19:22940373T>C ENST00000397104.3 - 5 2064 c.2065A>G c.(2065-2067)Aag>Gag p.K689E ZNF99_ENST00000596209.1_Missense_Mutation_p.K780E zinc finger protein 99 p.K689E(3) NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TGAATTATCTTATGTTTTCTA 0.343000 4 63 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7177603 7177603 + Missense_Mutation SNP G G A TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr12:7177603G>A ENST00000406697.1 + 15 2343 c.1715G>A c.(1714-1716)cGa>cAa p.R572Q C1S_ENST00000328916.3_Missense_Mutation_p.R572Q|C1S_ENST00000402681.3_Missense_Mutation_p.R405Q|C1S_ENST00000360817.5_Missense_Mutation_p.R572Q P09871 C1S_HUMAN complement component 1, s subcomponent 572 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) GGCTGGGGCCGAACAGAGAAG 0.537000 4 29 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49420108 49420108 + Missense_Mutation SNP C C A TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr12:49420108C>A ENST00000301067.7 - 48 15640 c.15641G>T c.(15640-15642)cGc>cTc p.R5214L NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCAATAGATGCGCGTGGCCTC 0.577000 9 30 7.48243e-07 8.61613e-07 1 1 0 MED15 51586 broad.mit.edu 37 22 20929420 20929420 + Silent SNP C C G TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr22:20929420C>G ENST00000263205.7 + 9 1242 c.1173C>G c.(1171-1173)gcC>gcG p.A391A MED15_ENST00000382974.2_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000406969.1_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Intron|MED15_ENST00000541476.1_Intron|MED15_ENST00000478831.1_Intron NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 391 Pro-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) AAGCCTTGGCCCAAGGTGGGA 0.587000 6 141 0 0 1 0 0 OR11G2 390439 broad.mit.edu 37 14 20666367 20666367 + Silent SNP C C A TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr14:20666367C>A ENST00000357366.3 + 1 873 c.873C>A c.(871-873)ggC>ggA p.G291G NM_001005503.1 NP_001005503.1 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, member 2 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) TGTTCTACGGCTCAGTACTGG 0.507000 4 123 0.150653 0.159023 1 1 0 TUBGCP5 114791 broad.mit.edu 37 15 22851079 22851079 + Nonsense_Mutation SNP T T G TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr15:22851079T>G ENST00000283645.4 + 11 1471 c.1341T>G c.(1339-1341)taT>taG p.Y447* TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Nonsense_Mutation_p.Y447* NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 447 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) TTCTTGAATATGACAATGTTG 0.483000 9 60 0 0 1 0 0 KRTAP5-7 440050 broad.mit.edu 37 11 71238651 71238651 + Missense_Mutation SNP G G A TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr11:71238651G>A ENST00000398536.4 + 1 339 c.305G>A c.(304-306)tGc>tAc p.C102Y NM_001012503.1 NP_001012521.1 Q6L8G8 KRA57_HUMAN keratin associated protein 5-7 102 7 X 4 AA repeats of C-C-X-P. keratin filament breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1) 12 aagccctgctgctgctcctca 0.632000 16 193 0 0 1 0 0 DOCK1 1793 broad.mit.edu 37 10 129209120 129209120 + Missense_Mutation SNP G G A TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr10:129209120G>A ENST00000280333.6 + 43 4406 c.4297G>A c.(4297-4299)Gag>Aag p.E1433K NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1433 DHR-2. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) CAGGGTGAACGAGGTCCAGCG 0.428000 3 28 0 0 1 0 0 UBAP1 51271 broad.mit.edu 37 9 34249846 34249846 + Missense_Mutation SNP C C A TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr9:34249846C>A ENST00000536252.1 + 6 1551 c.1153C>A c.(1153-1155)Ctg>Atg p.L385M UBAP1_ENST00000297661.4_Missense_Mutation_p.L385M|UBAP1_ENST00000543944.1_Missense_Mutation_p.L421M|UBAP1_ENST00000540348.1_Missense_Mutation_p.L385M|UBAP1_ENST00000359544.2_Missense_Mutation_p.L385M|UBAP1_ENST00000545103.1_Missense_Mutation_p.L449M|UBAP1_ENST00000379186.4_Intron NM_001171203.2 NP_001164674.1 Q9NZ09 UBAP1_HUMAN ubiquitin associated protein 1 385 cytoplasm endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1) 13 LUSC - Lung squamous cell carcinoma(29;0.00272) CTATTCTGAACTGCAGATGCT 0.527000 19 72 1.33834e-09 1.69523e-09 1 1 0 SNX13 23161 broad.mit.edu 37 7 17838696 17838696 + Nonsense_Mutation SNP G G A TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr7:17838696G>A ENST00000409389.1 - 23 2585 c.2413C>T c.(2413-2415)Cga>Tga p.R805* SNX13_ENST00000428135.3_Nonsense_Mutation_p.R794*|SNX13_ENST00000496855.1_5'UTR Q9Y5W8 SNX13_HUMAN sorting nexin 13 805 cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(10;0.0261)|all_lung(11;0.0521) ATATTCCTTCGCAACCACTGA 0.358000 6 53 0 0 1 0 0 RABGGTA 5875 broad.mit.edu 37 14 24734832 24734832 + Missense_Mutation SNP C C T TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr14:24734832C>T ENST00000399409.3 - 16 2176 c.1693G>A c.(1693-1695)Gtc>Atc p.V565I RABGGTA_ENST00000560777.1_Missense_Mutation_p.V174I|RABGGTA_ENST00000216840.6_Missense_Mutation_p.V565I NM_004581.5 NP_004572.3 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase, alpha subunit 565 visual perception Rab geranylgeranyltransferase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 12 GBM - Glioblastoma multiforme(265;0.0184) TAGGTGAGGACGCTGCTAACT 0.577000 3 21 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167553796 167553796 + Nonsense_Mutation SNP C C A TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr5:167553796C>A ENST00000519204.1 + 11 2002 c.1884C>A c.(1882-1884)tgC>tgA p.C628* CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000545108.1_Nonsense_Mutation_p.C749*|TENM2_ENST00000518659.1_Nonsense_Mutation_p.C749*|TENM2_ENST00000520394.1_Nonsense_Mutation_p.C517*|TENM2_ENST00000403607.2_Nonsense_Mutation_p.C582* teneurin transmembrane protein 2 ACGGCGTCTGCATCGGGGGAG 0.582000 3 18 0.115264 0.128824 1 1 0 NUDT12 83594 broad.mit.edu 37 5 102887965 102887965 + Missense_Mutation SNP C C A TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr5:102887965C>A ENST00000230792.2 - 6 1327 c.1231G>T c.(1231-1233)Gtt>Ttt p.V411F NUDT12_ENST00000507423.1_Missense_Mutation_p.V393F NM_031438.2 NP_113626.1 Q9BQG2 NUD12_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 12 411 Nudix hydrolase. nucleus|peroxisome metal ion binding|NAD+ diphosphatase activity endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1) 12 all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423) Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221) TTCTTGTCAACTTTAATTTCT 0.403000 3 34 1 1 1 1 0 ZNF232 7775 broad.mit.edu 37 17 5009416 5009416 + Silent SNP G G A TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr17:5009416G>A ENST00000250076.3 - 5 1692 c.1038C>T c.(1036-1038)ctC>ctT p.L346L ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Silent_p.L337L NM_014519.2 NP_055334.2 Q9UNY5 ZN232_HUMAN zinc finger protein 232 319 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2) 11 GATGCTGACCGAGGTTTGAGC 0.438000 5 133 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 5 71 0 0 1 0 0 KLC4 89953 broad.mit.edu 37 6 43034071 43034071 + Missense_Mutation SNP C C G TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr6:43034071C>G ENST00000394056.2 + 6 1094 c.599C>G c.(598-600)gCt>gGt p.A200G KLC4_ENST00000259708.3_Missense_Mutation_p.A218G|KLC4_ENST00000453940.2_Missense_Mutation_p.A123G|KLC4_ENST00000458460.2_Missense_Mutation_p.A200G|KLC4_ENST00000479388.1_Missense_Mutation_p.A200G|KLC4_ENST00000394058.1_Missense_Mutation_p.A200G|KLC4_ENST00000347162.5_Missense_Mutation_p.A200G Q9NSK0 KLC4_HUMAN kinesin light chain 4 200 cytoplasm|kinesin complex|microtubule microtubule motor activity|protein binding endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4) 23 all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453) GCTACAGCAGCTCAGCAGGGT 0.557000 3 74 0 0 1 0 0 KCNC4 3749 broad.mit.edu 37 1 110768691 110768691 + Silent SNP G G A TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr1:110768691G>A ENST00000369787.3 + 3 1737 c.1710G>A c.(1708-1710)gaG>gaA p.E570E KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Silent_p.E570E|KCNC4_ENST00000438661.2_Silent_p.E570E NM_004978.4 NP_004969.2 Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 570 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) CCCCCGAGGAGCGCCGGGCCC 0.637000 9 47 0 0 1 0 0 SH2D2A 9047 broad.mit.edu 37 1 156777073 156777073 + Missense_Mutation SNP T T G TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr1:156777073T>G ENST00000392306.2 - 8 1236 c.1097A>C c.(1096-1098)cAc>cCc p.H366P SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P|SH2D2A_ENST00000368199.3_Missense_Mutation_p.H356P NM_001161441.1 NP_001154913.1 Q9NP31 SH22A_HUMAN SH2 domain containing 2A 356 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|large_intestine(2)|lung(15) 18 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGGGGGCTGGTGGGGCAGGGG 0.597000 4 12 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72119078 72119078 + Missense_Mutation SNP T T G TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr15:72119078T>G ENST00000356056.5 - 42 7962 c.7490A>C c.(7489-7491)aAg>aCg p.K2497T MYO9A_ENST00000424560.1_Missense_Mutation_p.K2568T|MYO9A_ENST00000564571.1_3'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.K2478T NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 2497 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TTGTTTGCCCTTTTCCGGGTT 0.488000 14 109 0 0 1 0 0 FAM193B 54540 broad.mit.edu 37 5 176952083 176952083 + Missense_Mutation SNP C C A TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr5:176952083C>A ENST00000329540.5 - 9 3106 c.277G>T c.(277-279)Gtc>Ttc p.V93F FAM193B_ENST00000443375.2_Missense_Mutation_p.V434F|FAM193B_ENST00000514747.1_Missense_Mutation_p.V467F Q6IPW0 Q6IPW0_HUMAN family with sequence similarity 193, member B 143 kidney(1)|large_intestine(3) 4 AAGCTGTTGACCCGATCCAGT 0.567000 17 81 1.67942e-08 2.05864e-08 1 1 0 SPOP 8405 broad.mit.edu 37 17 47696424 47696424 + Missense_Mutation SNP G G C TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr17:47696424G>C ENST00000393331.3 - 7 869 c.399C>G c.(397-399)ttC>ttG p.F133L SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 133 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F133L(7) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 TGAATTTCTTGAATCCCCAGT 0.448000 Prostate(2;0.17) 19 120 0 0 1 0 0 TDRP 157695 broad.mit.edu 37 8 494659 494664 + In_Frame_Del DEL GGCGGC GGCGGC - rs71202629 TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr8:494659_494664delGGCGGC ENST00000324079.6 - 1 334_339 c.94_99delGCCGCC c.(94-99)del p.AA32del TDRP_ENST00000523656.1_In_Frame_Del_p.AA32del|TDRP_ENST00000427263.2_In_Frame_Del_p.AA32del testis development related protein p.A32_A33delAA(1) CCTGCGCCTGggcggcggcggcggcg 0.782 3 4 --- --- --- --- SKIDA1 387640 broad.mit.edu 37 10 21805466 21805467 + In_Frame_Ins INS - - CCTCCT rs138084841 by1000genomes TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr10:21805466_21805467insCCTCCT ENST00000449193.2 - 4 3537_3538 c.1285_1286insAGGAGG c.(1285-1287)ggg>AGGAGGggg p.428_429insRR SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 p.E428_G429insEE(2) CCCGCTGCccccctcctcctcc 0.619 4 5 --- --- --- --- OR8A1 390275 broad.mit.edu 37 11 124440636 124440636 + Frame_Shift_Del DEL A A - TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr11:124440636delA ENST00000284287.3 + 1 744 c.672delA c.(670-672)atfs p.I224fs NM_001005194.1 NP_001005194.1 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, member 1 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) TCAACATCATAGTCACGAGCT 0.483 17 45 --- --- --- --- ZNF93 81931 broad.mit.edu 37 19 20045269 20045270 + Frame_Shift_Del DEL TT TT - rs150239312 byFrequency TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chr19:20045269_20045270delTT ENST00000343769.5 + 4 1533_1534 c.1505_1506delTT c.(1504-1506)afs p.I502fs AC007204.2_ENST00000592245.1_lincRNA NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 502 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 24 CATAAGAAAATTCATACTGGAG 0.347 19 98 --- --- --- --- FAM120C 54954 broad.mit.edu 37 X 54209302 54209303 + In_Frame_Ins INS - - GGCGGC TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3bf64ed-fc4c-48cf-bc4a-ade574edd020 e30e3059-aeee-4637-94d2-78520add854e g.chrX:54209302_54209303insGGCGGC ENST00000375180.2 - 1 385_386 c.329_330insGCCGCC c.(328-330)ccc>cGCCGCCcc p.109_110insRR FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 109 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GCAGCTGAGGGGGCGGCGGCGG 0.748 5 4 --- --- --- ---