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 SALL3 27164 broad.mit.edu 37 18 76754115 76754115 + Silent SNP G G A TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr18:76754115G>A ENST00000536229.3 + 1 2434 c.1725G>A c.(1723-1725)aaG>aaA p.K575K SALL3_ENST00000537592.2_Silent_p.K708K|SALL3_ENST00000575389.2_Silent_p.K708K Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 708 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GGCCGTTCAAGTGCAAGATCT 0.667000 27 37 0 0 0.021523 0 0 RSBN1L 222194 broad.mit.edu 37 7 77408244 77408244 + Missense_Mutation SNP T T C TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr7:77408244T>C ENST00000334955.7 + 8 2327 c.2300T>C c.(2299-2301)gTg>gCg p.V767A RSBN1L_ENST00000445288.1_Missense_Mutation_p.V497A NM_198467.2 NP_940869.2 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like 767 nucleus central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GAAGAACCTGTGAATGTTAAT 0.308000 4 34 0 0 0.009096 0 0 SDHAP1 0 broad.mit.edu 37 3 195698264 195698264 + RNA SNP T T C rs12485654 by1000genomes TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr3:195698264T>C ENST00000427841.1 - 0 1608 NR_003264.2 TTTGTCAACATTCGTGACAGA 0.413000 3 72 0 0 0.001168 0 0 COL3A1 1281 broad.mit.edu 37 2 189871146 189871146 + Missense_Mutation SNP C C G TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr2:189871146C>G ENST00000304636.3 + 43 3339 c.3169C>G c.(3169-3171)Cca>Gca p.P1057A COL3A1_ENST00000317840.5_Intron NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1057 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TCCTGTCGGTCCAGCTGGAAA 0.488000 4 25 0 0 0.014758 0 0 TARBP1 6894 broad.mit.edu 37 1 234569236 234569236 + Missense_Mutation SNP T T C TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr1:234569236T>C ENST00000040877.1 - 14 2313 c.2314A>G c.(2314-2316)Agg>Ggg p.R772G NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 772 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) GGGTTACCCCTTTTCCACCCA 0.398000 3 63 0 0 0.004672 0 0 SDHAP1 0 broad.mit.edu 37 3 195698262 195698262 + RNA SNP C C G rs28503679 by1000genomes TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr3:195698262C>G ENST00000427841.1 - 0 1610 NR_003264.2 AATTTGTCAACATTCGTGACA 0.418000 4 78 0 0 0.001168 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50473221 50473221 + RNA SNP T T C rs117072442 by1000genomes TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr19:50473221T>C ENST00000602139.1 + 0 222 sialic acid binding Ig-like lectin 16 (gene/pseudogene) p.W65R(3) endometrium(2)|kidney(2)|lung(6) 10 GTTCAAAGGATGGACCAGCCC 0.602000 6 34 0 0 0.001984 0 0 PDCD1LG2 80380 broad.mit.edu 37 9 5534909 5534909 + Missense_Mutation SNP A A G TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr9:5534909A>G ENST00000397747.3 + 3 468 c.220A>G c.(220-222)Act>Gct p.T74A PDCD1LG2_ENST00000397745.2_Missense_Mutation_p.T74A NM_025239.3 NP_079515.2 Q9BQ51 PD1L2_HUMAN programmed cell death 1 ligand 2 74 Ig-like V-type. immune response|T cell costimulation endomembrane system|extracellular region|integral to membrane|plasma membrane receptor activity large_intestine(2)|lung(4)|prostate(2) 8 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112) TGAAAGAGCCACTTTGCTGGA 0.493000 23 43 0 0 0.018920 0 0 IGHM 0 broad.mit.edu 37 14 106321234 106321234 + RNA SNP T T G TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr14:106321234T>G ENST00000390559.2 - 0 754 CACGCTGTCATAGGTGGTCAG 0.587000 24 105 0 0 0.018920 0 0 IGHV1-24 0 broad.mit.edu 37 14 106733181 106733181 + RNA SNP A A T TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr14:106733181A>T ENST00000390610.2 - 0 373 CTCAGATCTCAGGCTGCTCAG 0.527000 12 374 0 0 0.010729 0 0 DUSP27 92235 broad.mit.edu 37 1 167095889 167095889 + Silent SNP G G A TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr1:167095889G>A ENST00000361200.2 + 6 1687 c.1521G>A c.(1519-1521)agG>agA p.R507R DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.R507R|DUSP27_ENST00000271385.5_Silent_p.R507R Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 507 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CGGCAGACAGGAGCTCAGAAG 0.597000 22 51 0 0 0.014323 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000225576.3_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 8 55 0 0 0.008291 0 0 EVPL 2125 broad.mit.edu 37 17 74003919 74003919 + Silent SNP T T C TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr17:74003919T>C ENST00000301607.3 - 22 5620 c.5367A>G c.(5365-5367)tcA>tcG p.S1789S EVPL_ENST00000586740.1_Silent_p.S1811S NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1789 Globular 2. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CGATGGAGAGTGAGGAGCTTG 0.607000 4 74 0 0 0.009096 0 0 FAM222A 84915 broad.mit.edu 37 12 110206377 110206377 + Missense_Mutation SNP G G A TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr12:110206377G>A ENST00000538780.1 + 3 1359 c.643G>A c.(643-645)Gcc>Acc p.A215T FAM222A_ENST00000358906.3_Missense_Mutation_p.A215T|FAM222A-AS1_ENST00000541723.1_RNA|FAM222A-AS1_ENST00000541460.1_RNA NM_032829.2 NP_116218.2 Q5U5X8 CL034_HUMAN family with sequence similarity 222, member A 215 Pro-rich. GGCCCCGGGCGCCGCACCCCC 0.711000 6 71 0 0 0.001984 0 0 TPTE2 93492 broad.mit.edu 37 13 20056679 20056679 + Missense_Mutation SNP T T G TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr13:20056679T>G ENST00000400230.2 - 4 172 c.128A>C c.(127-129)gAa>gCa p.E43A TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Missense_Mutation_p.E43A|TPTE2_ENST00000382978.1_Missense_Mutation_p.E43A|TPTE2_ENST00000457266.2_Missense_Mutation_p.E43A|TPTE2_ENST00000382977.4_Missense_Mutation_p.E43A|TPTE2_ENST00000382975.4_Missense_Mutation_p.E43A Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 43 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.E43A(1) NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) GGAAAGTCGTTCTAACATACT 0.313000 4 63 0 0 0.014758 0 0 TPTE2 93492 broad.mit.edu 37 13 20056686 20056686 + Splice_Site SNP T T C TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr13:20056686T>C ENST00000400230.2 - 4 165 c.119_splice c.e4-1 p.M41_splice TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Splice_Site_p.M41_splice|TPTE2_ENST00000382978.1_Splice_Site_p.M41_splice|TPTE2_ENST00000457266.2_Splice_Site_p.M41_splice|TPTE2_ENST00000382977.4_Splice_Site_p.M41_splice|TPTE2_ENST00000382975.4_Splice_Site_p.M41_splice Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 41 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) CGTTCTAACATACTTTAGCCA 0.313000 4 60 0 0 0.001168 0 0 HDAC5 10014 broad.mit.edu 37 17 42169608 42169608 + Missense_Mutation SNP G G C TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr17:42169608G>C ENST00000225983.6 - 9 1290 c.967C>G c.(967-969)Ccc>Gcc p.P323A HDAC5_ENST00000586802.1_Missense_Mutation_p.P322A|HDAC5_ENST00000393622.2_Missense_Mutation_p.P322A|HDAC5_ENST00000336057.5_Missense_Mutation_p.P322A Q9UQL6 HDAC5_HUMAN histone deacetylase 5 322 B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) GAGCTGTTGGGAGAGCTGGGG 0.642000 3 97 0 0 0.009096 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55341608 55341608 + Missense_Mutation SNP G G A TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr19:55341608G>A ENST00000391728.4 + 9 1246 c.1213G>A c.(1213-1215)Gtt>Att p.V405I KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.V310I|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.V388I|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.V388I|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.V405I NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) GGATCACTGCGTTTTCACACA 0.507000 93 152 0 0 0.014410 0 0 CRP 1401 broad.mit.edu 37 1 159683629 159683629 + Missense_Mutation SNP C C T TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr1:159683629C>T ENST00000255030.5 - 2 464 c.361G>A c.(361-363)Gcc>Acc p.A121T CRP_ENST00000368111.1_Intron|CRP_ENST00000343919.2_Intron|CRP_ENST00000437342.1_5'UTR|CRP_ENST00000368112.1_Intron|CRP_ENST00000368110.1_Intron NM_000567.2 NP_000558.2 P02741 CRP_HUMAN C-reactive protein, pentraxin-related 121 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) ATCCCTGAGGCGGACTCCCAG 0.502000 41 184 0 0 0.006999 0 0 ZBED1 9189 broad.mit.edu 37 X 2407561 2407561 + Silent SNP G G A TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chrX:2407561G>A ENST00000381223.4 - 2 1403 c.1200C>T c.(1198-1200)ctC>ctT p.L400L ZBED1_ENST00000381222.2_Silent_p.L400L|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Silent_p.L400L NM_001171135.1|NM_001171136.1|NM_004729.3 NP_001164606.1|NP_001164607.1|NP_004720.1 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 400 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AGGGCTGCAGGAGCTCCACCA 0.637000 17 63 0 0 0.004007 0 0 PLIN5 440503 broad.mit.edu 37 19 4523617 4523617 + Missense_Mutation SNP C C G TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr19:4523617C>G ENST00000381848.3 - 8 1395 c.1315G>C c.(1315-1317)Ggg>Cgg p.G439R NM_001013706.2 NP_001013728.2 Q00G26 PLIN5_HUMAN perilipin 5 439 lipid particle endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 10 CAGATGTCCCCGGCAACACCC 0.692000 OREG0025168 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 76 157 0 0 0.014410 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 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 22 36 0 0 0.010504 0 0 XRN1 54464 broad.mit.edu 37 3 142133126 142133126 + Missense_Mutation SNP G G A TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr3:142133126G>A ENST00000264951.4 - 14 1561 c.1444C>T c.(1444-1446)Cct>Tct p.P482S XRN1_ENST00000392981.2_Missense_Mutation_p.P482S NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 482 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 TAATGATAAGGATAATACCTA 0.294000 27 51 0 0 0.004656 0 0 PRG4 10216 broad.mit.edu 37 1 186276565 186276565 + Missense_Mutation SNP A A G TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr1:186276565A>G ENST00000445192.2 + 7 1759 c.1714A>G c.(1714-1716)Acc>Gcc p.T572A PRG4_ENST00000367486.3_Missense_Mutation_p.T529A|PRG4_ENST00000367485.4_Missense_Mutation_p.T479A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T531A NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 572 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T572A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 TGCACCCACCACCCCCAAGAA 0.642000 5 79 0 0 0.014758 0 0 RXFP2 122042 broad.mit.edu 37 13 32371461 32371461 + Missense_Mutation SNP C C A TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr13:32371461C>A ENST00000298386.2 + 17 1981 c.1910C>A c.(1909-1911)gCa>gAa p.A637E RXFP2_ENST00000380314.1_Missense_Mutation_p.A613E NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 637 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) GTGGCTGTTGCAAATCGTTTC 0.398000 15 91 1.49906e-05 7.46647e-05 0.020292 1 0 MDN1 23195 broad.mit.edu 37 6 90471411 90471411 + Missense_Mutation SNP G G C TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr6:90471411G>C ENST00000369393.3 - 17 2528 c.2413C>G c.(2413-2415)Caa>Gaa p.Q805E MDN1_ENST00000428876.1_Missense_Mutation_p.Q805E Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 805 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTCATCTGTTGTTGGGCATGG 0.328000 3 107 0 0 0.009096 0 0 MT1JP 0 broad.mit.edu 37 16 56669762 56669762 + RNA SNP G G A TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr16:56669762G>A ENST00000564564.1 + 0 88 CCACTGGTAAGAGAAGCCCAA 0.572000 37 86 0 0 0.006230 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33959841 33959841 + Missense_Mutation SNP G G C TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr1:33959841G>C ENST00000361328.3 + 8 2050 c.1897G>C c.(1897-1899)Gaa>Caa p.E633Q NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 633 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GCATGAGGATGAAGACCAGAT 0.438000 13 40 0 0 0.003163 0 0 ADAT1 23536 broad.mit.edu 37 16 75634205 75634205 + Missense_Mutation SNP G G A TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr16:75634205G>A ENST00000307921.3 - 11 1563 c.1418C>T c.(1417-1419)gCg>gTg p.A473V RP11-77K12.8_ENST00000564489.1_RNA|ADAT1_ENST00000568478.1_5'UTR NM_012091.3 NP_036223.2 Q9BUB4 ADAT1_HUMAN adenosine deaminase, tRNA-specific 1 473 A to I editase. tRNA processing metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity p.A473V(1) breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1) 19 GTAAGAGGACGCAGCCTCCTT 0.532000 31 72 0 0 0.009535 0 0 KDR 3791 broad.mit.edu 37 4 55964962 55964962 + Missense_Mutation SNP C C T TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr4:55964962C>T ENST00000263923.4 - 16 2570 c.2275G>A c.(2275-2277)Gaa>Aaa p.E759K NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 759 angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TTCGTCTTTTCCTGGGCACCT 0.408000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 4 55 0 0 0.009096 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 5 48 0 0 0.001984 0 0 DUOX2 50506 broad.mit.edu 37 15 45392355 45392355 + Missense_Mutation SNP T T G TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr15:45392355T>G ENST00000389039.6 - 24 3462 c.3077A>C c.(3076-3078)cAa>cCa p.Q1026P DUOX2_ENST00000603300.1_Missense_Mutation_p.Q1026P Q9NRD8 DUOX2_HUMAN dual oxidase 2 1026 Interaction with TXNDC11 (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CTGCAGCTTTTGGGCTAGGAA 0.587000 3 78 0 0 0.004672 0 0 CNR2 1269 broad.mit.edu 37 1 24201264 24201264 + Missense_Mutation SNP C C A TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr1:24201264C>A ENST00000536471.1 - 3 1102 c.844G>T c.(844-846)Gct>Tct p.A282S CNR2_ENST00000374472.4_Missense_Mutation_p.A282S P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 282 behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity p.A282T(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2) 26 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) GAGCAGAAAGCAAAGGCCTTC 0.577000 23 57 1.9806e-07 1.00583e-06 0.014323 1 0 TCEAL3 85012 broad.mit.edu 37 X 102864558 102864558 + Missense_Mutation SNP G G A TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chrX:102864558G>A ENST00000372628.1 + 3 924 c.566G>A c.(565-567)aGg>aAg p.R189K TCEAL3_ENST00000243286.3_Missense_Mutation_p.R189K|TCEAL3_ENST00000372627.5_Missense_Mutation_p.R189K|TCEAL3_ENST00000477014.1_Intron Q969E4 TCAL3_HUMAN transcription elongation factor A (SII)-like 3 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 16 GGTGGAGGTAGGGGCCAGAGG 0.507000 12 190 0 0 0.020292 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117432306 117432306 + Missense_Mutation SNP T T C TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr7:117432306T>C ENST00000160373.3 - 4 1035 c.944A>G c.(943-945)aAt>aGt p.N315S NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 315 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GTGGTCAGCATTTTCTGTCAC 0.473000 5 243 0 0 0.001984 0 0 PLXNB1 5364 broad.mit.edu 37 3 48459614 48459614 + Missense_Mutation SNP G G C TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr3:48459614G>C ENST00000358536.4 - 15 3477 c.3208C>G c.(3208-3210)Ccc>Gcc p.P1070A PLXNB1_ENST00000456774.1_Missense_Mutation_p.P887A|PLXNB1_ENST00000296440.6_Missense_Mutation_p.P1070A|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.P887A NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1070 IPT/TIG 1. axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TGGATGAGGGGCGCTGGGCAC 0.657000 3 21 0 0 0.004672 0 0 SLC25A10 1468 broad.mit.edu 37 17 79683052 79683052 + Missense_Mutation SNP G G A TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr17:79683052G>A ENST00000331531.5 + 5 511 c.391G>A c.(391-393)Gtg>Atg p.V131M SLC25A10_ENST00000350690.5_Missense_Mutation_p.V131M|SLC25A10_ENST00000571730.1_Missense_Mutation_p.V286M|SLC25A10_ENST00000545862.1_Missense_Mutation_p.V88M|SLC25A10_ENST00000541223.1_Missense_Mutation_p.V286M NM_001270888.1 NP_001257817.1 Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 131 gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 14 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) GCAGAACGACGTGAAGCTGCC 0.701000 7 14 0 0 0.003080 0 0 MTTP 4547 broad.mit.edu 37 4 100504662 100504662 + Silent SNP A A C TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr4:100504662A>C ENST00000457717.1 + 4 637 c.381A>C c.(379-381)ctA>ctC p.L127L MTTP_ENST00000511045.1_Silent_p.L154L|MTTP_ENST00000265517.5_Silent_p.L127L|MTTP_ENST00000422897.2_Silent_p.L127L NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 127 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) TCCTTCATCTAATCCATGGAA 0.388000 4 78 0 0 0.009096 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 4 87 0 0 0.009096 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 4 48 0 0 0.009096 0 0 CCDC106 29903 broad.mit.edu 37 19 56160648 56160648 + Missense_Mutation SNP C C G TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr19:56160648C>G ENST00000586790.1 + 2 1013 c.109C>G c.(109-111)Ctg>Gtg p.L37V CCDC106_ENST00000591578.1_Missense_Mutation_p.L37V|CCDC106_ENST00000591241.1_Intron|CCDC106_ENST00000588740.1_Missense_Mutation_p.L37V|CCDC106_ENST00000308964.3_Missense_Mutation_p.L37V Q9BWC9 CC106_HUMAN coiled-coil domain containing 106 37 nucleus endometrium(2)|large_intestine(3)|lung(5)|skin(1) 11 Colorectal(82;0.00403)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) CTTTTACAGTCTGAGCCCCTC 0.592000 3 150 0 0 0.004672 0 0 CYP4Z2P 0 broad.mit.edu 37 1 47325313 47325315 + RNA DEL GTT GTT - TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr1:47325313_47325315delGTT ENST00000505841.1 - 0 1204 NR_002788.2 AAAAAAAAAAGTTGTTTTAAGAC 0.409 7 69 --- --- --- --- LARP1 23367 broad.mit.edu 37 5 154190917 154190918 + Splice_Site INS - - T TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr5:154190917_154190918insT ENST00000336314.4 + 17 2746 c.e17+1 NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TATGAAGCTGGTAAGAGCCAGA 0.490 24 44 --- --- --- --- PEX1 5189 broad.mit.edu 37 7 92146721 92146721 + Frame_Shift_Del DEL T T - TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr7:92146721delT ENST00000248633.4 - 5 1203 c.1108delA c.(1108-1110)ttfs p.I370fs PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 370 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TCTGACCTAATTTTTTTTTGA 0.353 7 143 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 2 4 --- --- --- --- C17orf76-AS1 0 broad.mit.edu 37 17 16344166 16344167 + RNA INS - - A rs149284927 TCGA-DE-A0XZ-01A-11D-A17V-08 TCGA-DE-A0XZ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6212c4-e48b-4052-b894-e283ca951c97 4b0c366e-31db-4344-953e-454a4ec5fb73 g.chr17:16344166_16344167insA ENST00000475953.1 + 0 483 C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA NR_027667.1 gactccatctcaaaaaaaaaaa 0.416 4 7 --- --- --- ---