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 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 3 180 0 0 0.004672 0 0 ANKRD32 84250 broad.mit.edu 37 5 94022316 94022316 + Missense_Mutation SNP T T C TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr5:94022316T>C ENST00000265140.5 + 16 2433 c.2014T>C c.(2014-2016)Ttt>Ctt p.F672L NM_032290.3 NP_115666.2 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 672 NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) CATTTGCTCCTTTTCCTCCTC 0.383000 3 150 0 0 0.004672 0 0 CYLD 1540 broad.mit.edu 37 16 50815182 50815182 + Missense_Mutation SNP A A T TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr16:50815182A>T ENST00000540145.1 + 10 1959 c.1544A>T c.(1543-1545)gAt>gTt p.D515V CYLD_ENST00000564326.1_Missense_Mutation_p.D512V|CYLD_ENST00000569418.1_Missense_Mutation_p.D512V|CYLD_ENST00000427738.3_Missense_Mutation_p.D515V|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000566206.1_Missense_Mutation_p.D512V|CYLD_ENST00000398568.2_Missense_Mutation_p.D512V|CYLD_ENST00000311559.9_Missense_Mutation_p.D515V Q9NQC7 CYLD_HUMAN cylindromatosis (turban tumor syndrome) 515 CAP-Gly 3.|Interaction with IKBKG/NEMO.|Interaction with TRIP. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1) 62 all_cancers(37;0.0156) GGCTGTACGGATGGAACCTTC 0.448000 """Mis, N, F, S""" cylindroma cylindroma Multiple Trichoepithelioma, Familial;Familial Cylindromatosis 42 31 0 0 0.008740 0 0 BTC 685 broad.mit.edu 37 4 75681110 75681110 + Silent SNP C C T TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr4:75681110C>T ENST00000395743.3 - 3 600 c.240G>A c.(238-240)ggG>ggA p.G80G NM_001729.2 NP_001720.1 P35070 BTC_HUMAN betacellulin 80 EGF-like. positive regulation of cell division|positive regulation of cell proliferation extracellular space|integral to membrane|plasma membrane|soluble fraction epidermal growth factor receptor binding|growth factor activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 10 Lung(101;0.219) AGCGGCATCTCCCTTTGATGC 0.532000 47 85 0 0 0.003610 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) 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) ggaaggggaaaaaaagaaggg 0.413000 3 137 0 0 0.004672 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102305092 102305092 + RNA SNP A A G TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr15:102305092A>G ENST00000561463.1 + 0 13138 CATGAACACCATCAGCACAGC 0.632000 3 30 0 0 0.000248 0 0 ERAS 3266 broad.mit.edu 37 X 48687628 48687628 + Missense_Mutation SNP G G A TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chrX:48687628G>A ENST00000338270.1 + 1 346 c.95G>A c.(94-96)cGc>cAc p.R32H NM_181532.2 NP_853510.1 Q7Z444 RASE_HUMAN ES cell expressed Ras 32 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 14 CAGGCACGCCGCAGGGATGTT 0.657000 5 17 0 0 0.000602 0 0 ZNF561 93134 broad.mit.edu 37 19 9721287 9721287 + Silent SNP C C A TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr19:9721287C>A ENST00000302851.3 - 6 1413 c.1050G>T c.(1048-1050)tcG>tcT p.S350S ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000424629.1_Silent_p.S281S|ZNF561_ENST00000354661.4_Silent_p.S214S NM_152289.2 NP_689502.2 Q8N587 ZN561_HUMAN zinc finger protein 561 350 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 14 TAGAAAGGCCCGAGTACTGAG 0.418000 4 137 0.000602214 0.00169083 0.000602 1 0 BCLAF1 9774 broad.mit.edu 37 6 136599279 136599279 + Missense_Mutation SNP A A G TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr6:136599279A>G ENST00000531224.1 - 4 992 c.740T>C c.(739-741)aTg>aCg p.M247T BCLAF1_ENST00000527536.1_Missense_Mutation_p.M247T|BCLAF1_ENST00000353331.4_Missense_Mutation_p.M245T|BCLAF1_ENST00000392348.2_Missense_Mutation_p.M245T|BCLAF1_ENST00000530767.1_Missense_Mutation_p.M247T|BCLAF1_ENST00000527759.1_Missense_Mutation_p.M245T NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 247 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TGTACTGAGCATGGGAGCATC 0.453000 20 102 0 0 0.007413 0 0 GDF10 2662 broad.mit.edu 37 10 48429292 48429292 + Silent SNP G G A TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr10:48429292G>A ENST00000224605.2 - 2 859 c.594C>T c.(592-594)cgC>cgT p.R198R NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 198 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 GCCACAGGCCGCGCGGTGGGG 0.721000 24 24 0 0 0.003954 0 0 EMR2 30817 broad.mit.edu 37 19 14877869 14877869 + Silent SNP G G A rs138601089 TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr19:14877869G>A ENST00000315576.3 - 6 859 c.408C>T c.(406-408)tgC>tgT p.C136C EMR2_ENST00000346057.1_Silent_p.C136C|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000594294.1_Silent_p.C136C|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000601345.1_Silent_p.C136C|EMR2_ENST00000392965.3_Silent_p.C136C|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000596991.2_Silent_p.C136C|EMR2_ENST00000392967.2_Silent_p.C136C|EMR2_ENST00000392964.3_5'UTR|EMR2_ENST00000353005.1_Intron NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 136 EGF-like 3; calcium-binding. cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 GGGTGTTGACGCAGGTGCCGT 0.582000 6 7 0 0 0.006214 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102305084 102305084 + RNA SNP T T C TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr15:102305084T>C ENST00000561463.1 + 0 13130 GACATCAACATGAACACCATC 0.632000 4 31 0 0 0.000602 0 0 MPDZ 8777 broad.mit.edu 37 9 13219563 13219563 + Missense_Mutation SNP A A T TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr9:13219563A>T ENST00000319217.7 - 8 1328 c.1081T>A c.(1081-1083)Ttg>Atg p.L361M MPDZ_ENST00000381015.4_Missense_Mutation_p.L361M|MPDZ_ENST00000381022.2_Missense_Mutation_p.L361M|MPDZ_ENST00000546205.1_Missense_Mutation_p.L361M|MPDZ_ENST00000447879.1_Missense_Mutation_p.L361M|MPDZ_ENST00000541718.1_Missense_Mutation_p.L361M|MPDZ_ENST00000536827.1_Missense_Mutation_p.L361M NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 361 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) CTTACCCGCAACTCTGGTGTT 0.418000 17 23 0 0 0.004990 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 49 0 0 0.000248 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 12 0 0 0.004672 0 0 F13B 2165 broad.mit.edu 37 1 197036317 197036317 + Missense_Mutation SNP T T C TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr1:197036317T>C ENST00000367412.1 - 1 80 c.37A>G c.(37-39)Ata>Gta p.I13V NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 13 blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 CCTGAGATTATCAATATGATG 0.299000 9 69 0 0 0.008291 0 0 CD97 976 broad.mit.edu 37 19 14507206 14507206 + Silent SNP C C T TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr19:14507206C>T ENST00000242786.5 + 5 479 c.399C>T c.(397-399)tgC>tgT p.C133C CD97_ENST00000587728.1_Intron|CD97_ENST00000358600.3_Intron|CD97_ENST00000357355.3_Silent_p.C133C NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 133 EGF-like 3; calcium-binding (Potential). cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 ACGGCACCTGCGTCAACACCC 0.567000 9 117 0 0 0.008291 0 0 FN1 2335 broad.mit.edu 37 2 216262570 216262570 + Splice_Site SNP A A C TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr2:216262570A>C ENST00000354785.4 - 22 3719 c.3348_splice c.e22-1 p.L1117_splice FN1_ENST00000446046.1_Splice_Site_p.L1117_splice|FN1_ENST00000443816.1_Splice_Site_p.L1117_splice|FN1_ENST00000432072.2_Splice_Site_p.L1117_splice|FN1_ENST00000421182.1_Splice_Site_p.L1117_splice|FN1_ENST00000359671.1_Splice_Site_p.L1117_splice|FN1_ENST00000357867.4_Splice_Site_p.L1117_splice|FN1_ENST00000357009.2_Splice_Site_p.L1117_splice|FN1_ENST00000356005.4_Splice_Site_p.L1117_splice|FN1_ENST00000346544.3_Splice_Site_p.L1117_splice|FN1_ENST00000345488.5_Splice_Site_p.L1117_splice|FN1_ENST00000336916.4_Splice_Site_p.L1117_splice|FN1_ENST00000323926.6_Splice_Site_p.L1117_splice P02751 FINC_HUMAN fibronectin 1 1117 Fibronectin type-III 6. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCGTACACCCAGCTAGAGGAA 0.468000 21 44 0 0 0.001523 0 0 CD74 972 broad.mit.edu 37 5 149784722 149784722 + Missense_Mutation SNP A A T TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr5:149784722A>T ENST00000353334.6 - 5 642 c.463T>A c.(463-465)Tac>Aac p.Y155N CD74_ENST00000524315.1_Intron|CD74_ENST00000377795.3_Intron|CD74_ENST00000009530.7_Missense_Mutation_p.Y155N NM_001025159.2|NM_004355.3 NP_001020330.1|NP_004346.1 P04233 HG2A_HUMAN CD74 molecule, major histocompatibility complex, class II invariant chain 155 antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1) 5 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGTGGCGGGTACACCTTCAGG 0.562000 T ROS1 NSCLC 4 78 0 0 0.001168 0 0 COL6A3 1293 broad.mit.edu 37 2 238275793 238275793 + Silent SNP C C A TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr2:238275793C>A ENST00000295550.4 - 11 5489 c.5037G>T c.(5035-5037)ggG>ggT p.G1679G COL6A3_ENST00000353578.4_Silent_p.G1473G|COL6A3_ENST00000347401.3_Silent_p.G1478G|COL6A3_ENST00000346358.4_Silent_p.G1479G|COL6A3_ENST00000409809.1_Silent_p.G1473G|COL6A3_ENST00000472056.1_Silent_p.G1072G NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1679 Nonhelical region.|VWFA 9. G -> E (in BM). axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACTGGACAAGCCCCACTTGGA 0.468000 14 16 6.81908e-15 1.99117e-14 0.002450 1 0 ACVR1B 91 broad.mit.edu 37 12 52387841 52387841 + Missense_Mutation SNP C C T TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr12:52387841C>T ENST00000257963.4 + 9 1542 c.1465C>T c.(1465-1467)Cgc>Tgc p.R489C ACVR1B_ENST00000542485.1_Missense_Mutation_p.R437C|ACVR1B_ENST00000541224.1_Missense_Mutation_p.R530C NM_004302.4|NM_020328.3 NP_004293.1|NP_064733.3 P36896 ACV1B_HUMAN activin A receptor, type IB 489 Protein kinase. G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) GACGGCCCTGCGCATCAAGAA 0.612000 20 73 0 0 0.001882 0 0 DNAH9 1770 broad.mit.edu 37 17 11774927 11774927 + Missense_Mutation SNP G G A TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr17:11774927G>A ENST00000262442.3 + 52 10134 c.10066G>A c.(10066-10068)Gct>Act p.A3356T DNAH9_ENST00000454412.2_Missense_Mutation_p.A3356T NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3356 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TGGAGGACTCGCTTCTGAAAA 0.493000 26 46 0 0 0.004656 0 0 C22orf42 150297 broad.mit.edu 37 22 32554980 32554980 + Missense_Mutation SNP T T C TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr22:32554980T>C ENST00000382097.3 - 1 295 c.223A>G c.(223-225)Atg>Gtg p.M75V NM_001010859.1 NP_001010859.1 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 75 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 24 CCTTTGGACATCTTCAGCATC 0.547000 68 151 0 0 0.003610 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 3 12 0 0 0.000602 0 0 SMAP1 60682 broad.mit.edu 37 6 71508370 71508370 + Frame_Shift_Del DEL A A - TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr6:71508370delA ENST00000370455.3 + 6 754 c.506delA c.(505-507)gafs p.E169fs SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs NM_001044305.1 NP_001037770.1 Q8IYB5 SMAP1_HUMAN small ArfGAP 1 169 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding p.K145fs*48(1) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1) 15 aaagaaaaggaaaaaaaaaag 0.289 3 3 --- --- --- --- NFIB 4781 broad.mit.edu 37 9 14125721 14125722 + Frame_Shift_Del DEL AC AC - TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr9:14125721_14125722delAC ENST00000380959.3 - 7 1442_1443 c.969_970delGT c.(967-972)tttcfs p.LF323fs NFIB_ENST00000397581.2_Frame_Shift_Del_p.LF323fs|NFIB_ENST00000397579.2_Frame_Shift_Del_p.LF323fs|NFIB_ENST00000380934.4_Frame_Shift_Del_p.LF349fs|NFIB_ENST00000380953.1_Frame_Shift_Del_p.LF323fs|NFIB_ENST00000380924.1_Frame_Shift_Del_p.LF71fs|NFIB_ENST00000397575.3_Frame_Shift_Del_p.LF323fs|NFIB_ENST00000543693.1_Frame_Shift_Del_p.LF71fs NM_005596.3 NP_005587.2 O00712 NFIB_HUMAN nuclear factor I/B 323 anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) GCAGAGCTGAACAATGGCTTTT 0.480 T """MYB, HGMA2""" """adenoid cystic carcinoma, lipoma""" 35 60 --- --- --- --- LOC101929735 101929735 broad.mit.edu 37 14 22892201 22892202 + RNA INS - - A TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr14:22892201_22892202insA ENST00000514473.2 - 0 225 AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000537850.1_RNA actaaaaatacaaaaaaaaaaa 0.545 3 5 --- --- --- --- CTD-2245F17.3 0 broad.mit.edu 37 19 53703995 53703995 + RNA DEL T T - rs113703393 TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr19:53703995delT ENST00000597550.1 + 0 232 TGTTTCCCCCttttttttttt 0.473 6 4 --- --- --- --- SOX10 6663 broad.mit.edu 37 22 38370169 38370180 + In_Frame_Del DEL GGGGTGGTTGGA GGGGTGGTTGGA - TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chr22:38370169_38370180delGGGGTGGTTGGA ENST00000396884.2 - 4 1005_1016 c.723_734delTCCAACCACCCC c.(721-735)ccg>cc p.PPTTP241del POLR2F_ENST00000407936.1_Intron|SOX10_ENST00000360880.2_In_Frame_Del_p.PPTTP241del|POLR2F_ENST00000405557.1_Intron NM_006941.3 NP_008872.1 P56693 SOX10_HUMAN SRY (sex determining region Y)-box 10 241 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2) 20 Melanoma(58;0.045) CTCTGTCTTCGGGGTGGTTGGAGGGGTGGGTG 0.646 46 135 --- --- --- --- PLXNB3 5365 broad.mit.edu 37 X 153040467 153040468 + Frame_Shift_Ins INS - - G TCGA-D6-6827-01A-11D-1912-08 TCGA-D6-6827-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 059be8f9-9536-40c0-a751-5fe529a2f01f fddb2e4f-1d76-4108-9c87-14b55cc52055 g.chrX:153040467_153040468insG ENST00000538966.1 + 25 4404_4405 c.4133_4134insG c.(4132-4134)gggfs p.G1378fs PLXNB3_ENST00000361971.5_Frame_Shift_Ins_p.G1355fs|PLXNB3_ENST00000538776.1_Frame_Shift_Ins_p.G1008fs|PLXNB3_ENST00000538282.1_Stop_Codon_Ins NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 1355 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CCCAAGCCTGAGGGGCCAGGGG 0.688 20 15 --- --- --- ---