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 CNGA1 1259 broad.mit.edu 37 4 47938975 47938975 + Silent SNP G G A TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr4:47938975G>A ENST00000402813.3 - 10 1885 c.1743C>T c.(1741-1743)atC>atT p.I581I CNGA1_ENST00000420489.2_Silent_p.I512I|CNGA1_ENST00000514170.1_Silent_p.I512I|CNGA1_ENST00000358519.4_Silent_p.I512I|CNGA1_ENST00000544810.1_Silent_p.I512I P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 512 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 TCTCTCGTCCGATATCCCCTT 0.463000 36 59 0 0 1 0 0 MIR1208 0 broad.mit.edu 37 8 129162395 129162395 + RNA SNP C C T TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr8:129162395C>T ENST00000408334.1 + 0 34 NR_031613.1 CAGGCGGAGACGGGTCTTTCT 0.527000 17 16 0 0 1 0 0 DAPK1 1612 broad.mit.edu 37 9 90219898 90219898 + Missense_Mutation SNP G G A TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr9:90219898G>A ENST00000469640.2 + 3 467 c.92G>A c.(91-93)cGt>cAt p.R31H DAPK1_ENST00000408954.3_Missense_Mutation_p.R31H|DAPK1_ENST00000491893.1_Missense_Mutation_p.R31H|DAPK1_ENST00000358077.5_Missense_Mutation_p.R31H|DAPK1_ENST00000472284.1_Missense_Mutation_p.R31H P53355 DAPK1_HUMAN death-associated protein kinase 1 31 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity p.R31H(2) breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 AAGAAATGCCGTGAGAAAAGC 0.502000 Chronic Lymphocytic Leukemia, Familial Clustering of 4 7 0 0 1 0 0 PRB3 5544 broad.mit.edu 37 12 11420521 11420521 + RNA SNP C C T rs113884749 TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr12:11420521C>T ENST00000381842.3 - 0 642 PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) CTTTCCCGGACGAGGTGGGGG 0.622000 4 110 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100851 168100851 + Silent SNP C C T TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr2:168100851C>T ENST00000409195.1 + 9 3038 c.2949C>T c.(2947-2949)ttC>ttT p.F983F XIRP2_ENST00000409273.1_Silent_p.F761F|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.F983F|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 808 actin cytoskeleton organization cell junction actin binding p.F983F(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AATCTCTCTTCGAGACAACAC 0.353000 12 22 0 0 1 0 0 PCDHA6 0 broad.mit.edu 37 5 140209185 140209185 + Silent SNP G G T TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr5:140209185G>T ENST00000529310.1 + 1 1623 c.1509G>T c.(1507-1509)gcG>gcT p.A503A PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.A503A|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGAGCGCGCGTTGTCGAGCT 0.672000 39 51 1.59361e-14 1.68214e-14 1 1 0 DNM1P47 0 broad.mit.edu 37 15 102303137 102303137 + RNA SNP C C G TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr15:102303137C>G ENST00000561463.1 + 0 11183 CCAACCTGCACTAGCGTGGGA 0.602000 5 29 0 0 1 0 0 PDE5A 8654 broad.mit.edu 37 4 120527915 120527915 + Silent SNP C C T TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr4:120527915C>T ENST00000354960.3 - 2 1009 c.690G>A c.(688-690)gtG>gtA p.V230V PDE5A_ENST00000394439.1_Silent_p.V178V|PDE5A_ENST00000264805.5_Silent_p.V188V NM_001083.3 NP_001074.2 O76074 PDE5A_HUMAN phosphodiesterase 5A, cGMP-specific 230 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) CCACATGTCCCACAATGCCTT 0.478000 8 73 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18937330 18937330 + Missense_Mutation SNP T T C TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr16:18937330T>C ENST00000446231.2 - 1 446 c.34A>G c.(34-36)Agc>Ggc p.S12G SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.S12G Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 12 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 ccgccgccgctgcTCAGCCGA 0.736000 3 6 0 0 1 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1606150 1606150 + Silent SNP G G A rs148824156 byFrequency TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr11:1606150G>A ENST00000382171.2 - 1 363 c.330C>T c.(328-330)ggC>ggT p.G110G KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 110 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCCACAAGAGCCACAGCCCC 0.667000 6 32 0 0 1 0 0 TRIM31 11074 broad.mit.edu 37 6 30080303 30080303 + Missense_Mutation SNP T T C TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr6:30080303T>C ENST00000376734.3 - 2 405 c.280A>G c.(280-282)Aca>Gca p.T94A TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Missense_Mutation_p.T94A NM_007028.3 NP_008959.3 Q9BZY9 TRI31_HUMAN tripartite motif containing 31 94 mitochondrion ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2) 15 CTCGGGCATGTAGCCTCTTTC 0.488000 33 42 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 3 26 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29686010 29686010 + Missense_Mutation SNP C C T TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr17:29686010C>T ENST00000358273.4 + 56 8520 c.8137C>T c.(8137-8139)Cgg>Tgg p.R2713W NF1_ENST00000417592.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.R2692W|NF1_ENST00000444181.2_Missense_Mutation_p.R506W NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2713 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TGGCTTGTGGCGGTTTGCAGG 0.308000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 16 19 0 0 1 0 0 KCNJ5 3762 broad.mit.edu 37 11 128786546 128786546 + Silent SNP C C T TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr11:128786546C>T ENST00000529694.1 + 3 1556 c.1180C>T c.(1180-1182)Ctg>Ttg p.L394L KCNJ5_ENST00000533599.1_Silent_p.L394L|KCNJ5_ENST00000338350.4_Silent_p.L394L NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 394 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) TGAGGCAGGGCTGGATGCAGA 0.652000 5 23 0 0 1 0 0 OR6X1 390260 broad.mit.edu 37 11 123625199 123625199 + Missense_Mutation SNP A A C TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr11:123625199A>C ENST00000327930.2 - 1 54 c.28T>G c.(28-30)Ttc>Gtc p.F10V NM_001005188.1 NP_001005188.1 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, member 1 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2) 23 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) AGCAGGATGAATTCTGTGATT 0.413000 32 41 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10397685 10397685 + Missense_Mutation SNP G G C rs140473978 TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr17:10397685G>C ENST00000226207.5 - 39 5747 c.5653C>G c.(5653-5655)Caa>Gaa p.Q1885E CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1885 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TCTTCAGCTTGTCTCTTGTAG 0.428000 26 49 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107460368 107460368 + Silent SNP G G A TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr2:107460368G>A ENST00000409382.3 - 2 676 c.66C>T c.(64-66)ctC>ctT p.L22L ST6GAL2_ENST00000409087.3_Silent_p.L22L|ST6GAL2_ENST00000361686.4_Silent_p.L22L NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 22 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 TCAGCAAAAAGAGGAGCCCCC 0.537000 13 29 0 0 1 0 0 REM1 28954 broad.mit.edu 37 20 30064255 30064255 + Missense_Mutation SNP C C T TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr20:30064255C>T ENST00000201979.2 + 2 300 c.7C>T c.(7-9)Ctc>Ttc p.L3F DEFB124_ENST00000481595.1_Intron NM_014012.4 NP_054731.2 O75628 REM1_HUMAN RAS (RAD and GEM)-like GTP-binding 1 3 small GTPase mediated signal transduction membrane calmodulin binding|GTP binding|GTPase activity kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1) 23 all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) AAAGATGACACTCAACACCGA 0.577000 3 40 0 0 1 0 0 PMP2 5375 broad.mit.edu 37 8 82355665 82355665 + Missense_Mutation SNP C C T TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr8:82355665C>T ENST00000256103.2 - 4 503 c.367G>A c.(367-369)Gtg>Atg p.V123M RP11-157I4.4_ENST00000524085.2_RNA|PMP2_ENST00000519260.1_3'UTR NM_002677.3 NP_002668.1 P02689 MYP2_HUMAN peripheral myelin protein 2 123 cytoplasm cholesterol binding|fatty acid binding|transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Epithelial(68;0.186) GTGCACACCACGCCCTTCATT 0.313000 128 67 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158651379 158651379 + Missense_Mutation SNP C C A TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr1:158651379C>A ENST00000368148.3 - 4 649 c.469G>T c.(469-471)Gcc>Tcc p.A157S SPTA1_ENST00000368147.3_Missense_Mutation_p.A157S NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 157 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AACTTCAGGGCCCGCAGCAAC 0.527000 46 57 2.46787e-29 2.6794e-29 1 1 0 CHST13 166012 broad.mit.edu 37 3 126260911 126260911 + Silent SNP C C T TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr3:126260911C>T ENST00000319340.2 + 3 566 c.516C>T c.(514-516)ttC>ttT p.F172F NM_152889.2 NP_690849.1 Q8NET6 CHSTD_HUMAN carbohydrate (chondroitin 4) sulfotransferase 13 172 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(114;0.151) CCTTCCTGTTCGTGCGGGAGC 0.706000 6 7 0 0 1 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303817 151303817 + Silent SNP G G A TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chrX:151303817G>A ENST00000370323.4 - 4 592 c.276C>T c.(274-276)tcC>tcT p.S92S MAGEA10_ENST00000244096.3_Silent_p.S92S|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 92 endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CCGAGGGGGAGGAGCAGGCTA 0.552000 9 79 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8521460 8521460 + Missense_Mutation SNP C C T TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr9:8521460C>T ENST00000381196.4 - 17 1321 c.778G>A c.(778-780)Gtg>Atg p.V260M PTPRD_ENST00000540109.1_Missense_Mutation_p.V260M|PTPRD_ENST00000360074.4_Missense_Mutation_p.V247M|PTPRD_ENST00000537002.1_Missense_Mutation_p.V257M|PTPRD_ENST00000358503.5_Missense_Mutation_p.V247M|PTPRD_ENST00000486161.1_Missense_Mutation_p.V260M|PTPRD_ENST00000356435.5_Missense_Mutation_p.V260M|PTPRD_ENST00000355233.5_Missense_Mutation_p.V260M|PTPRD_ENST00000397606.3_Missense_Mutation_p.V250M|PTPRD_ENST00000397611.3_Missense_Mutation_p.V257M|PTPRD_ENST00000397617.3_Missense_Mutation_p.V250M NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 260 Ig-like C2-type 3. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GGTGACCCCACGGCCACACAG 0.473000 TSP Lung(15;0.13) 3 58 0 0 1 0 0 MFSD12 126321 broad.mit.edu 37 19 3551171 3551171 + Missense_Mutation SNP G G A TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr19:3551171G>A ENST00000355415.2 - 2 489 c.320C>T c.(319-321)tCc>tTc p.S107F AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000398558.4_Missense_Mutation_p.S107F|MFSD12_ENST00000389395.3_Missense_Mutation_p.S107F NM_174983.3 NP_778148.2 Q6NUT3 CS028_HUMAN major facilitator superfamily domain containing 12 107 transmembrane transport integral to membrane cervix(1)|endometrium(2)|lung(4)|urinary_tract(2) 9 GAAGGGGAAGGACAGCAGGAC 0.662000 6 8 0 0 1 0 0 CCDC130 81576 broad.mit.edu 37 19 13873213 13873213 + Missense_Mutation SNP G G A TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr19:13873213G>A ENST00000586600.1 + 10 1177 c.674G>A c.(673-675)cGc>cAc p.R225H CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_Missense_Mutation_p.R225H P13994 CC130_HUMAN coiled-coil domain containing 130 225 response to virus protein binding endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18) GAAGATGACCGCAAGCTGGCG 0.622000 3 38 0 0 1 0 0 CCNT2 905 broad.mit.edu 37 2 135711337 135711337 + Frame_Shift_Del DEL A A - TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr2:135711337delA ENST00000264157.5 + 9 1342 c.1312delA c.(1312-1314)aafs p.K438fs CCNT2_ENST00000295238.6_Frame_Shift_Del_p.K438fs|CCNT2_ENST00000537343.1_Frame_Shift_Del_p.K263fs NM_001241.3|NM_058241.2 NP_001232.1|NP_490595.1 O60583 CCNT2_HUMAN cyclin T2 438 cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein kinase binding endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.107) GTCTTTAGATAAATATAGAGA 0.393 2 4 --- --- --- --- SDHAP1 0 broad.mit.edu 37 3 195713385 195713386 + RNA INS - - T TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr3:195713385_195713386insT ENST00000427841.1 - 0 176 NR_003264.2 AAAGCATGAACTTACGGAATCT 0.401 3 4 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708855 180708855 + RNA DEL G G - rs60396213 TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr5:180708855delG ENST00000412295.2 + 0 238 AGCGGTAGGAGGGGGGCTGGA 0.697 6 7 --- --- --- --- NEUROD6 63974 broad.mit.edu 37 7 31378732 31378732 + Frame_Shift_Del DEL C C - TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr7:31378732delC ENST00000297142.3 - 2 473 c.151delG c.(151-153)ccfs p.A51fs NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 51 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 tctccAGGGGCCCTTTTGATG 0.448 16 32 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49447049 49447050 + Frame_Shift_Del DEL GG GG - TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr12:49447049_49447050delGG ENST00000301067.7 - 7 893_894 c.894_895delCC c.(892-897)taatfs p.YH298fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CAGAAAGTATGGTATCCTTTGT 0.480 25 60 --- --- --- --- FOXA1 3169 broad.mit.edu 37 14 38061233 38061241 + In_Frame_Del DEL GTTGCCGGA GTTGCCGGA - TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr14:38061233_38061241delGTTGCCGGA ENST00000250448.2 - 2 809_817 c.748_756delTCCGGCAAC c.(748-756)del p.SGN250del FOXA1_ENST00000540786.1_In_Frame_Del_p.SGN217del|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 250 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) TCTCGAACATGTTGCCGGAGTCCGGGTGC 0.684 9 18 --- --- --- --- DPF1 0 broad.mit.edu 37 19 38702939 38702939 + Frame_Shift_Del DEL G G - TCGA-V1-A8MM-01A-11D-A377-08 TCGA-V1-A8MM-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 508c5ad2-f778-4997-84bb-f8a060fc3286 68397e1f-276f-4831-b395-7aec3cffaf4e g.chr19:38702939delG ENST00000416611.1 - 11 1230 c.1107delC c.(1105-1107)ccfs p.P369fs DPF1_ENST00000412732.1_Frame_Shift_Del_p.P303fs|DPF1_ENST00000456296.1_Frame_Shift_Del_p.P359fs|DPF1_ENST00000355526.4_Frame_Shift_Del_p.P385fs|DPF1_ENST00000420980.2_Frame_Shift_Del_p.P351fs|DPF1_ENST00000414789.1_Frame_Shift_Del_p.P303fs Q92782 DPF1_HUMAN D4, zinc and double PHD fingers family 1 351 induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nBAF complex zinc ion binding large_intestine(1)|lung(4)|ovary(1)|skin(1) 7 all_cancers(60;1.24e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GCTCCGCCATGGGGGGACTCA 0.657 2 4 --- --- --- ---