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 KSR2 283455 broad.mit.edu 37 12 117962864 117962864 + Missense_Mutation SNP A A T TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr12:117962864A>T ENST00000425217.1 - 14 1979 c.1925T>A c.(1924-1926)cTc>cAc p.L642H KSR2_ENST00000302438.5_Missense_Mutation_p.L368H|KSR2_ENST00000339824.5_Missense_Mutation_p.L671H|KSR2_ENST00000545002.1_5'UTR NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 671 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTTTCCAATGAGCTCGCCGAT 0.622000 5 82 0 0 1 0 0 PGM2 55276 broad.mit.edu 37 4 37836265 37836265 + Missense_Mutation SNP A A G TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr4:37836265A>G ENST00000381967.4 + 3 375 c.275A>G c.(274-276)cAa>cGa p.Q92R PGM2_ENST00000544359.1_5'UTR|PGM2_ENST00000537241.1_Intron NM_018290.3 NP_060760.2 Q96G03 PGM2_HUMAN phosphoglucomutase 2 92 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19 CTGGAAAAACAATTCAGTGAC 0.343000 88 112 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285491 16285491 + Silent SNP C C T rs16962973 TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr17:16285491C>T ENST00000302182.3 + 2 662 c.270C>T c.(268-270)acC>acT p.T90T UBB_ENST00000395837.1_Silent_p.T90T|UBB_ENST00000395839.1_Silent_p.T90T|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 90 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AGACCATCACCCTGGAAGTGG 0.552000 3 84 0 0 1 0 0 CDYL2 124359 broad.mit.edu 37 16 80718510 80718510 + Silent SNP A A G TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr16:80718510A>G ENST00000299564.8 - 2 696 c.541T>C c.(541-543)Ttg>Ctg p.L181L CDYL2_ENST00000563890.1_Silent_p.L181L|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000562812.1_Silent_p.L181L|CDYL2_ENST00000566173.1_Silent_p.L181L NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 181 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 TGATCATTCAAATCCAAGCCA 0.512000 3 113 0 0 1 0 0 GAA 2548 broad.mit.edu 37 17 78079688 78079688 + Silent SNP C C T rs149814041 TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr17:78079688C>T ENST00000302262.3 + 3 906 c.687C>T c.(685-687)cgC>cgT p.R229R GAA_ENST00000390015.3_Silent_p.R229R NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 229 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) TGGACGGCCGCGTGCTGTGAG 0.657000 9 76 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50866169 50866169 + Missense_Mutation SNP C C A TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr18:50866169C>A ENST00000442544.2 + 15 2867 c.2251C>A c.(2251-2253)Cca>Aca p.P751T DCC_ENST00000412726.1_Missense_Mutation_p.P599T|DCC_ENST00000581580.1_Missense_Mutation_p.P406T NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 751 Fibronectin type-III 4. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TCCCTTGAACCCAAACATCGT 0.473000 7 96 5.18039e-06 5.18039e-06 1 1 0 VIL1 7429 broad.mit.edu 37 2 219299353 219299353 + Silent SNP G G A TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr2:219299353G>A ENST00000248444.5 + 14 1693 c.1605G>A c.(1603-1605)gcG>gcA p.A535A VIL1_ENST00000392114.2_Silent_p.A224A NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 535 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGGTCCCAGCGCGGGCCAATT 0.567000 4 118 0 0 1 0 0 NOP16 51491 broad.mit.edu 37 5 175813862 175813862 + Missense_Mutation SNP G G A TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr5:175813862G>A ENST00000389158.5 - 3 700 c.265C>T c.(265-267)Cgg>Tgg p.R89W NOP16_ENST00000510123.1_Missense_Mutation_p.R89W|NOP16_ENST00000509257.1_Missense_Mutation_p.R89W|NOP16_ENST00000507413.1_Intron Q9Y3C1 NOP16_HUMAN NOP16 nucleolar protein 89 nucleolus central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1) 8 TAGGGCTTCCGTACAAGCTCT 0.512000 4 149 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 30 44 0 0 1 0 0 TMEM63B 55362 broad.mit.edu 37 6 44119647 44119647 + Missense_Mutation SNP G G T TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr6:44119647G>T ENST00000259746.9 + 19 1921 c.1738G>T c.(1738-1740)Ggc>Tgc p.G580C TMEM63B_ENST00000323267.6_Missense_Mutation_p.G580C Q5T3F8 TM63B_HUMAN transmembrane protein 63B 580 integral to membrane nucleotide binding|protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) AGCCTTTATCGGCAACGCCAT 0.642000 OREG0017465 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 55 58 6.30371e-39 6.61889e-39 1 1 0 ZCWPW1 55063 broad.mit.edu 37 7 100014704 100014704 + Missense_Mutation SNP G G A TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr7:100014704G>A ENST00000398027.2 - 6 711 c.464C>T c.(463-465)aCt>aTt p.T155I ZCWPW1_ENST00000324725.6_Missense_Mutation_p.T34I|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.T155I|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.T34I NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 155 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGCATTATCAGTATCAGTAGC 0.433000 12 266 0 0 1 0 0 IGHG2 0 broad.mit.edu 37 14 106110177 106110177 + RNA SNP G G A TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr14:106110177G>A ENST00000390545.2 - 0 440 CGGGGTCTTCGTGGCTCACGT 0.602000 15 190 0 0 1 0 0 RTTN 25914 broad.mit.edu 37 18 67872549 67872549 + Missense_Mutation SNP G G C TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr18:67872549G>C ENST00000255674.6 - 2 320 c.34C>G c.(34-36)Cat>Gat p.H12D RTTN_ENST00000454359.1_Missense_Mutation_p.H12D|RTTN_ENST00000437017.1_Missense_Mutation_p.H12D NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 12 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) GCCAGCTGATGACCTGTCAAC 0.483000 4 172 0 0 1 0 0 CCDC42 146849 broad.mit.edu 37 17 8647917 8647917 + Missense_Mutation SNP C C T TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr17:8647917C>T ENST00000293845.3 - 1 237 c.11G>A c.(10-12)gGc>gAc p.G4D CCDC42_ENST00000539522.2_Missense_Mutation_p.G4D NM_144681.2 NP_653282.2 Q96M95 CCD42_HUMAN coiled-coil domain containing 42 4 kidney(1)|large_intestine(4)|lung(3)|ovary(1) 9 TTCCATGATGCCCAGACTCAT 0.612000 34 46 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152324257 152324257 + Missense_Mutation SNP G G C rs144200854 by1000genomes TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr1:152324257G>C ENST00000388718.5 - 3 6077 c.6005C>G c.(6004-6006)gCa>gGa p.A2002G FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 2002 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGTGGTATCTGCTGTTTGTCC 0.517000 5 375 0 0 1 0 0 EEF2K 29904 broad.mit.edu 37 16 22268620 22268620 + Missense_Mutation SNP T T A TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr16:22268620T>A ENST00000263026.5 + 8 1289 c.815T>A c.(814-816)gTg>gAg p.V272E NM_013302.3 NP_037434.1 O00418 EF2K_HUMAN eukaryotic elongation factor-2 kinase 272 Alpha-type protein kinase. insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) CAGCTGATAGTGGTGGACATC 0.557000 6 157 0 0 1 0 0 RP11-15G16.1 0 broad.mit.edu 37 8 41292930 41292932 + RNA DEL GAG GAG - TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr8:41292930_41292932delGAG ENST00000521725.1 + 0 114_116 ggagaaggaagaggaggaggagg 0.547 2 4 --- --- --- --- GIT2 9815 broad.mit.edu 37 12 110433982 110433982 + Frame_Shift_Del DEL C C - TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr12:110433982delC ENST00000360185.4 - 1 212 c.48delG c.(46-48)ggfs p.G16fs GIT2_ENST00000320063.9_Frame_Shift_Del_p.G16fs|GIT2_ENST00000338373.5_Frame_Shift_Del_p.G16fs|GIT2_ENST00000553118.1_Frame_Shift_Del_p.G16fs|GIT2_ENST00000547815.1_Frame_Shift_Del_p.G16fs|GIT2_ENST00000551209.1_Frame_Shift_Del_p.G16fs|GIT2_ENST00000457474.2_Frame_Shift_Del_p.G16fs|GIT2_ENST00000356259.4_Frame_Shift_Del_p.G16fs|GIT2_ENST00000361006.5_Frame_Shift_Del_p.G16fs|GIT2_ENST00000354574.4_Frame_Shift_Del_p.G16fs|GIT2_ENST00000343646.5_Frame_Shift_Del_p.G16fs|GIT2_ENST00000355312.3_Frame_Shift_Del_p.G16fs Q14161 GIT2_HUMAN G protein-coupled receptor kinase interacting ArfGAP 2 16 Arf-GAP. regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway nucleoplasm ARF GTPase activator activity|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4) 27 ACTCACCCGGCCCGCTGCAGT 0.731 2 4 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7788146 7788148 + In_Frame_Del DEL GAG GAG - TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr17:7788146_7788148delGAG ENST00000380358.4 + 1 23_25 c.22_24delGAG c.(22-24)del p.E14del LSMD1_ENST00000570555.1_Intron|LSMD1_ENST00000576861.1_Intron NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 429 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) TCTGAGggacgaggaggaggagg 0.700 3 5 --- --- --- ---