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 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-EL-A3CY-01A-11D-A19J-08 TCGA-EL-A3CY-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6aedde6d-6dae-43be-a849-e10ae19350f8 9f6ea3d3-c570-4a1a-806f-4ce2d3304f72 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 33 0 0 0.014758 0 0 LINC00477 0 broad.mit.edu 37 12 24736761 24736761 + RNA SNP G G C rs139293562 TCGA-EL-A3CY-01A-11D-A19J-08 TCGA-EL-A3CY-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6aedde6d-6dae-43be-a849-e10ae19350f8 9f6ea3d3-c570-4a1a-806f-4ce2d3304f72 g.chr12:24736761G>C ENST00000483544.1 - 0 341 NR_029451.2 GGAGGGAGACGCCCTCCCAAG 0.562000 4 30 0 0 0.069234 0 0 SEC23A 10484 broad.mit.edu 37 14 39560843 39560843 + Silent SNP C C T TCGA-EL-A3CY-01A-11D-A19J-08 TCGA-EL-A3CY-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6aedde6d-6dae-43be-a849-e10ae19350f8 9f6ea3d3-c570-4a1a-806f-4ce2d3304f72 g.chr14:39560843C>T ENST00000307712.6 - 5 958 c.441G>A c.(439-441)ctG>ctA p.L147L SEC23A_ENST00000545328.2_Silent_p.L118L|SEC23A_ENST00000536508.1_Silent_p.L21L NM_006364.2 NP_006355.2 Q15436 SC23A_HUMAN Sec23 homolog A (S. cerevisiae) 147 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) TGGATTCTTTCAGGGCTTGTA 0.383000 6 76 0 0 0.029380 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-EL-A3CY-01A-11D-A19J-08 TCGA-EL-A3CY-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6aedde6d-6dae-43be-a849-e10ae19350f8 9f6ea3d3-c570-4a1a-806f-4ce2d3304f72 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 55 0 0 0.009096 0 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-EL-A3CY-01A-11D-A19J-08 TCGA-EL-A3CY-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6aedde6d-6dae-43be-a849-e10ae19350f8 9f6ea3d3-c570-4a1a-806f-4ce2d3304f72 g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 4 38 0 0 0.009096 0 0 ARMC4P1 0 broad.mit.edu 37 10 27577615 27577615 + RNA SNP T T G rs11015640 by1000genomes TCGA-EL-A3CY-01A-11D-A19J-08 TCGA-EL-A3CY-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6aedde6d-6dae-43be-a849-e10ae19350f8 9f6ea3d3-c570-4a1a-806f-4ce2d3304f72 g.chr10:27577615T>G ENST00000576034.1 + 0 505 GGAAGAGTGCTGAAAAGATTG 0.423000 3 36 0 0 0.004672 0 0 HELZ 9931 broad.mit.edu 37 17 65186416 65186416 + Missense_Mutation SNP G G C TCGA-EL-A3CY-01A-11D-A19J-08 TCGA-EL-A3CY-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6aedde6d-6dae-43be-a849-e10ae19350f8 9f6ea3d3-c570-4a1a-806f-4ce2d3304f72 g.chr17:65186416G>C ENST00000358691.5 - 10 779 c.613C>G c.(613-615)Cag>Gag p.Q205E HELZ_ENST00000580168.1_Missense_Mutation_p.Q205E|HELZ_ENST00000580662.1_5'UTR NM_014877.3 NP_055692.2 helicase with zinc finger p.Q205*(1) NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) AGTTCTTCCTGGGAATGTGCT 0.378000 3 44 0 0 0.004672 0 0 RPL23AP7 0 broad.mit.edu 37 2 114369771 114369771 + RNA SNP C C T rs145906086 TCGA-EL-A3CY-01A-11D-A19J-08 TCGA-EL-A3CY-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6aedde6d-6dae-43be-a849-e10ae19350f8 9f6ea3d3-c570-4a1a-806f-4ce2d3304f72 g.chr2:114369771C>T ENST00000416673.2 - 0 385 NR_000029.3 TTAAAGCCTTCGCTTTGGCTT 0.473000 5 43 0 0 0.047766 0 0 INPP5K 51763 broad.mit.edu 37 17 1400056 1400056 + Silent SNP G G C TCGA-EL-A3CY-01A-11D-A19J-08 TCGA-EL-A3CY-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6aedde6d-6dae-43be-a849-e10ae19350f8 9f6ea3d3-c570-4a1a-806f-4ce2d3304f72 g.chr17:1400056G>C ENST00000406424.4 - 11 1637 c.777C>G c.(775-777)ccC>ccG p.P259P INPP5K_ENST00000320345.6_Silent_p.P259P|INPP5K_ENST00000397335.3_Silent_p.P243P|INPP5K_ENST00000421807.2_Silent_p.P335P|INPP5K_ENST00000542125.1_Silent_p.P239P NM_001135642.1 NP_001129114.1 Q9BT40 INP5K_HUMAN inositol polyphosphate-5-phosphatase K 335 Catalytic (Potential). actin cytoskeleton organization cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding endometrium(1)|large_intestine(7)|lung(3)|skin(1) 12 ACAGGTCCTCGGGCATCAGGA 0.582000 3 43 0 0 0.004672 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-EL-A3CY-01A-11D-A19J-08 TCGA-EL-A3CY-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6aedde6d-6dae-43be-a849-e10ae19350f8 9f6ea3d3-c570-4a1a-806f-4ce2d3304f72 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 3 34 0 0 0.004672 0 0 SHROOM2 357 broad.mit.edu 37 X 9914880 9914880 + Missense_Mutation SNP T T C TCGA-EL-A3CY-01A-11D-A19J-08 TCGA-EL-A3CY-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6aedde6d-6dae-43be-a849-e10ae19350f8 9f6ea3d3-c570-4a1a-806f-4ce2d3304f72 g.chrX:9914880T>C ENST00000380913.3 + 10 4844 c.4754T>C c.(4753-4755)cTc>cCc p.L1585P SHROOM2_ENST00000418909.2_Missense_Mutation_p.L420P NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 1585 ASD2. apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) AAGTCGGCCCTCATCATCGAG 0.542000 2 9 0 0 0.004672 0 0 PCDHB18 0 broad.mit.edu 37 5 140615861 140615861 + RNA SNP G G A rs6871453 by1000genomes TCGA-EL-A3CY-01A-11D-A19J-08 TCGA-EL-A3CY-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6aedde6d-6dae-43be-a849-e10ae19350f8 9f6ea3d3-c570-4a1a-806f-4ce2d3304f72 g.chr5:140615861G>A ENST00000526308.1 + 0 1924 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 GGTACCTCGGGCGGCCGAGCC 0.701000 4 80 0 0 0.009096 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725559 32725559 + Missense_Mutation SNP C C T rs113761247 byFrequency TCGA-EL-A3CY-01A-11D-A19J-08 TCGA-EL-A3CY-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6aedde6d-6dae-43be-a849-e10ae19350f8 9f6ea3d3-c570-4a1a-806f-4ce2d3304f72 g.chr6:32725559C>T ENST00000435145.2 - 4 809 c.748G>A c.(748-750)Ggt>Agt p.G250S HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CCTTTCTGACCCCTGTGACGG 0.552000 3 15 0 0 0.004672 0 0 FNBP4 23360 broad.mit.edu 37 11 47744665 47744665 + Missense_Mutation SNP G G A TCGA-EL-A3CY-01A-11D-A19J-08 TCGA-EL-A3CY-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6aedde6d-6dae-43be-a849-e10ae19350f8 9f6ea3d3-c570-4a1a-806f-4ce2d3304f72 g.chr11:47744665G>A ENST00000263773.5 - 15 2680 c.2668C>T c.(2668-2670)Cca>Tca p.P890S NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 890 NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 GCCTGAACTGGCTGCAATGAG 0.547000 3 39 0 0 0.004672 0 0 TP53TG3D 729264 broad.mit.edu 37 16 32265022 32265022 + Silent SNP G G C rs149357881 by1000genomes TCGA-EL-A3CY-01A-11D-A19J-08 TCGA-EL-A3CY-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6aedde6d-6dae-43be-a849-e10ae19350f8 9f6ea3d3-c570-4a1a-806f-4ce2d3304f72 g.chr16:32265022G>C ENST00000398664.3 + 1 983 c.348G>C c.(346-348)gcG>gcC p.A116A TP53TG3D_ENST00000354614.3_Silent_p.A116A|TP53TG3D_ENST00000569631.1_Intron|RP11-56L13.7_ENST00000562604.1_RNA NM_001243722.1 NP_001230651.1 TP53 target 3D CTGCCTCCGCGGCAGGGTTGT 0.607000 4 50 0 0 0.009096 0 0 OBP2B 29989 broad.mit.edu 37 9 136081795 136081795 + Missense_Mutation SNP A A G rs1132279 TCGA-EL-A3CY-01A-11D-A19J-08 TCGA-EL-A3CY-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6aedde6d-6dae-43be-a849-e10ae19350f8 9f6ea3d3-c570-4a1a-806f-4ce2d3304f72 g.chr9:136081795A>G ENST00000372034.3 - 5 438 c.397T>C c.(397-399)Tct>Cct p.S133P OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR NM_014581.2 NP_055396.1 Q9NPH6 OBP2B_HUMAN odorant binding protein 2B 133 chemosensory behavior|sensory perception of smell extracellular region odorant binding|transporter activity p.S133P(2) central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05) TTGGTATCAGAATTCCTACCT 0.612000 3 43 0 0 0.009096 0 0 FAM198B 51313 broad.mit.edu 37 4 159091487 159091489 + In_Frame_Del DEL GCT GCT - TCGA-EL-A3CY-01A-11D-A19J-08 TCGA-EL-A3CY-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6aedde6d-6dae-43be-a849-e10ae19350f8 9f6ea3d3-c570-4a1a-806f-4ce2d3304f72 g.chr4:159091487_159091489delGCT ENST00000393807.5 - 3 1327_1329 c.921_923delAGC c.(919-924)gcg>gc p.AA307del FAM198B_ENST00000585682.1_Intron|FAM198B_ENST00000592057.1_3'UTR|FAM198B_ENST00000296530.8_Intron|FAM198B_ENST00000589306.1_Intron NM_001031700.2 NP_001026870.2 Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 307 Golgi membrane|integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 GGAAAGACACGCTGCTGCTGCTG 0.458 7 41 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708776 180708777 + RNA INS - - G rs140221514 TCGA-EL-A3CY-01A-11D-A19J-08 TCGA-EL-A3CY-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6aedde6d-6dae-43be-a849-e10ae19350f8 9f6ea3d3-c570-4a1a-806f-4ce2d3304f72 g.chr5:180708776_180708777insG ENST00000412295.2 + 0 238 gggcggtaggagggggctggag 0.728 2 4 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671273 25671273 + Frame_Shift_Del DEL G G - TCGA-EL-A3CY-01A-11D-A19J-08 TCGA-EL-A3CY-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6aedde6d-6dae-43be-a849-e10ae19350f8 9f6ea3d3-c570-4a1a-806f-4ce2d3304f72 g.chr13:25671273delG ENST00000281589.3 + 1 974 c.937delG c.(937-939)cgfs p.A313fs NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 313 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TCTCCGGAAAGCGTTTTCTCC 0.408 10 271 --- --- --- --- SREBF2 6721 broad.mit.edu 37 22 42262949 42262951 + In_Frame_Del DEL GCA GCA - TCGA-EL-A3CY-01A-11D-A19J-08 TCGA-EL-A3CY-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6aedde6d-6dae-43be-a849-e10ae19350f8 9f6ea3d3-c570-4a1a-806f-4ce2d3304f72 g.chr22:42262949_42262951delGCA ENST00000361204.4 + 2 369_371 c.203_205delGCA c.(202-207)ggc>g p.GS68del NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 68 Gly/Pro/Ser-rich. cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 ggcagcagtggcagcagcagcag 0.567 9 119 --- --- --- ---