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 ALX3 257 broad.mit.edu 37 1 110604148 110604148 + Missense_Mutation SNP C C T TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr1:110604148C>T ENST00000369792.4 - 3 719 c.632G>A c.(631-633)cGc>cAc p.R211H RP4-773N10.4_ENST00000554749.1_RNA NM_006492.2 NP_006483.2 O95076 ALX3_HUMAN ALX homeobox 3 211 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135) ATAACGCTCGCGCTTCCGCCA 0.622000 23 42 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 4 145 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17071981 17071981 + Missense_Mutation SNP T T A TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr22:17071981T>A ENST00000359963.3 - 1 1719 c.1460A>T c.(1459-1461)aAt>aTt p.N487I NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 487 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CTGGGCCACATTTATTATCCC 0.517000 64 92 0 0 1 0 0 GLI1 2735 broad.mit.edu 37 12 57865272 57865272 + Missense_Mutation SNP G G T TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr12:57865272G>T ENST00000228682.2 + 12 2840 c.2749G>T c.(2749-2751)Gat>Tat p.D917Y GLI1_ENST00000543426.1_Missense_Mutation_p.D789Y|GLI1_ENST00000546141.1_Missense_Mutation_p.D876Y NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 917 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) GGGCAGGGAAGATGCCCCCGC 0.562000 5 64 1 1 1 1 0 GLUD1P2 0 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 4 40 0 0 1 0 0 PDE1B 0 broad.mit.edu 37 12 54966490 54966490 + Missense_Mutation SNP A A G TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr12:54966490A>G ENST00000243052.3 + 7 1136 c.700A>G c.(700-702)Aca>Gca p.T234A PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.T214A|PDE1B_ENST00000538346.1_Missense_Mutation_p.T193A NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 234 Catalytic (By similarity). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 TGTTACCCAGACAGTCCATTG 0.512000 32 301 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198721481 198721481 + Missense_Mutation SNP T T C TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr1:198721481T>C ENST00000367376.2 + 30 3476 c.3305T>C c.(3304-3306)tTt>tCt p.F1102S PTPRC_ENST00000442510.2_Missense_Mutation_p.F1104S|PTPRC_ENST00000352140.3_Missense_Mutation_p.F1054S|PTPRC_ENST00000348564.6_Missense_Mutation_p.F943S|PTPRC_ENST00000594404.1_Missense_Mutation_p.F941S NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1102 Tyrosine-protein phosphatase 2. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 CTTCGTGTCTTTGAACTGAGA 0.373000 16 26 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33795933 33795933 + Silent SNP C C T TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr15:33795933C>T ENST00000389232.4 + 3 343 c.273C>T c.(271-273)ggC>ggT p.G91G RYR3_ENST00000415757.3_Silent_p.G91G NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 91 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AAAATGGCGGCGAAGGGGTGA 0.478000 6 15 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 3 37 0.00909568 0.00964693 1 1 0 PNPLA4 8228 broad.mit.edu 37 X 7880088 7880088 + Missense_Mutation SNP A A G TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chrX:7880088A>G ENST00000381042.4 - 5 628 c.458T>C c.(457-459)cTa>cCa p.L153P PNPLA4_ENST00000444736.1_Missense_Mutation_p.L153P|PNPLA4_ENST00000537427.1_Missense_Mutation_p.L66P NM_004650.2 NP_004641.1 P41247 PLPL4_HUMAN patatin-like phospholipase domain containing 4 153 Patatin. lipid catabolic process triglyceride lipase activity kidney(1)|large_intestine(3)|lung(2)|prostate(1) 7 Colorectal(8;0.0329)|Medulloblastoma(8;0.232) GTATTCCACTAGCTTCAGTCC 0.378000 34 5 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 5 50 0 0 1 0 0 TBX5 6910 broad.mit.edu 37 12 114841632 114841632 + Silent SNP G G A TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr12:114841632G>A ENST00000310346.4 - 2 738 c.72C>T c.(70-72)tgC>tgT p.C24C TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000526441.1_Silent_p.C24C|TBX5_ENST00000349716.5_Intron|TBX5_ENST00000405440.2_Silent_p.C24C NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 24 GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592). cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) GTTTCGAATCGCAGGGCAGGT 0.701000 25 41 0 0 1 0 0 AMZ1 155185 broad.mit.edu 37 7 2752278 2752278 + Missense_Mutation SNP A A C rs148314719 byFrequency TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr7:2752278A>C ENST00000312371.4 + 7 1631 c.1263A>C c.(1261-1263)gaA>gaC p.E421D AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_3'UTR NM_133463.1 NP_597720.1 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 421 metallopeptidase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 16 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) TGCAGCGGGAAGTGGCAGAGG 0.692000 16 25 0 0 1 0 0 SLC18A1 6570 broad.mit.edu 37 8 20004825 20004825 + Missense_Mutation SNP C C T TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr8:20004825C>T ENST00000440926.1 - 16 1878 c.1408G>A c.(1408-1410)Gtc>Atc p.V470I SLC18A1_ENST00000265808.7_Missense_Mutation_p.V438I|SLC18A1_ENST00000519026.1_Missense_Mutation_p.V438I|SLC18A1_ENST00000276373.5_Missense_Mutation_p.V470I|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000381608.4_Intron NM_001135691.2 NP_001129163.1 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 1 470 neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Colorectal(74;0.0747) GGAGCATAGACGATGTTGATG 0.512000 13 51 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 5 50 0 0 1 0 0 MC3R 4159 broad.mit.edu 37 20 54823920 54823920 + Silent SNP G G T TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr20:54823920G>T ENST00000243911.2 + 1 133 c.21G>T c.(19-21)ctG>ctT p.L7L NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 44 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) CGTGCTGCCTGCCCTCTGTTC 0.567000 66 117 1.53134e-21 1.84817e-21 1 1 0 CLPSL1 340204 broad.mit.edu 37 6 35754858 35754858 + Silent SNP C C T TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr6:35754858C>T ENST00000373861.5 + 2 277 c.183C>T c.(181-183)tgC>tgT p.C61C CLPSL1_ENST00000542261.1_Silent_p.C60C A2RUU4 CF127_HUMAN colipase-like 1 61 digestion|lipid catabolic process extracellular region enzyme activator activity AGTCGCACTGCGCGGAGAAGG 0.662000 6 32 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 3 34 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 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 6 37 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32089674 32089674 + Silent SNP G G A rs150986745 TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr5:32089674G>A ENST00000438447.1 + 20 6508 c.6120G>A c.(6118-6120)gcG>gcA p.A2040A PDZD2_ENST00000282493.3_Silent_p.A2040A O15018 PDZD2_HUMAN PDZ domain containing 2 2040 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GTCCGGCAGCGTCTAGGAACG 0.647000 12 248 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94138039 94138039 + Missense_Mutation SNP G G T TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr4:94138039G>T ENST00000282020.4 + 6 1198 c.940G>T c.(940-942)Gat>Tat p.D314Y GRID2_ENST00000510992.1_Missense_Mutation_p.D219Y|GRID2_ENST00000505687.1_3'UTR NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 314 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TGATCCAAAGGATCCATTTGC 0.413000 50 66 1.67886e-27 2.09857e-27 1 1 0 CNTNAP1 8506 broad.mit.edu 37 17 40843294 40843294 + Silent SNP C C T rs144310425 TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr17:40843294C>T ENST00000264638.4 + 14 2416 c.2199C>T c.(2197-2199)gaC>gaT p.D733D CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 733 Fibrinogen C-terminal. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) GCAACTGTGACGCTGACCAGC 0.632000 65 109 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 3 36 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 3 13 0 0 1 0 0 TAB2 23118 broad.mit.edu 37 6 149700269 149700269 + Silent SNP A A G TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr6:149700269A>G ENST00000367456.1 + 4 1795 c.1218A>G c.(1216-1218)acA>acG p.T406T TAB2_ENST00000538427.1_Silent_p.T406T|TAB2_ENST00000536230.1_Silent_p.T374T|TAB2_ENST00000392282.1_Silent_p.T406T|TAB2_ENST00000286332.5_Silent_p.T406T Q9NYJ8 TAB2_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 2 406 activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 22 ATCAGCCCACACTCTTCATAT 0.502000 13 25 0 0 1 0 0 CACNB2 783 broad.mit.edu 37 10 18429692 18429692 + Silent SNP G G T TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr10:18429692G>T ENST00000324631.7 + 1 87 c.27G>T c.(25-27)tcG>tcT p.S9S CACNB2_ENST00000352115.6_Silent_p.S9S|CACNB2_ENST00000377328.1_Silent_p.S9S NM_201593.2|NM_201596.2 NP_963887.2|NP_963890.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 9 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TGTCCAAGTCGCCTCCCACAG 0.711000 9 2 0.000442599 0.000484093 1 1 0 OTOF 9381 broad.mit.edu 37 2 26696866 26696866 + Missense_Mutation SNP C C T TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr2:26696866C>T ENST00000272371.2 - 27 3527 c.3401G>A c.(3400-3402)cGa>cAa p.R1134Q OTOF_ENST00000338581.6_Missense_Mutation_p.R387Q|OTOF_ENST00000339598.3_Missense_Mutation_p.R387Q|OTOF_ENST00000403946.3_Missense_Mutation_p.R1134Q|OTOF_ENST00000402415.3_Missense_Mutation_p.R444Q NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1134 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACCTCCACTCGGTACTTGCT 0.647000 30 43 0 0 1 0 0 VAV2 7410 broad.mit.edu 37 9 136857224 136857224 + Missense_Mutation SNP G G T TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr9:136857224G>T ENST00000371851.1 - 1 502 c.177C>A c.(175-177)gaC>gaA p.D59E VAV2_ENST00000406606.3_Missense_Mutation_p.D59E|VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000371850.3_Missense_Mutation_p.D59E P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor 59 CH. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) GGAAGTTGATGTCCTTGAGGT 0.726000 8 17 0.000274275 0.000309665 1 1 0 BCLAF1 9774 broad.mit.edu 37 6 136599814 136599814 + Nonsense_Mutation SNP G G A TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr6:136599814G>A ENST00000531224.1 - 4 457 c.205C>T c.(205-207)Cga>Tga p.R69* BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.R69*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.R69* NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 69 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) CCATAAGGTCGTCTCATTCCT 0.433000 9 79 0 0 1 0 0 LRIG2 9860 broad.mit.edu 37 1 113658960 113658960 + Missense_Mutation SNP C C T TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr1:113658960C>T ENST00000361127.4 + 16 2780 c.2582C>T c.(2581-2583)aCg>aTg p.T861M LRIG2_ENST00000492207.1_3'UTR NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 861 cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) TCCCAAGGAACGCTGTCTGAG 0.488000 14 18 0 0 1 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823055 38823055 + Silent SNP C C G TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr22:38823055C>G ENST00000303592.3 - 2 1341 c.1083G>C c.(1081-1083)ctG>ctC p.L361L RP3-434P1.6_ENST00000433230.1_RNA NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 361 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) GTGGGGCGGGCAGCACGGTGA 0.642000 4 59 0 0 1 0 0 SRSF4 6429 broad.mit.edu 37 1 29475219 29475221 + In_Frame_Del DEL CTT CTT - rs138237342 by1000genomes TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr1:29475219_29475221delCTT ENST00000373795.4 - 6 1420_1422 c.1186_1188delAAG c.(1186-1188)del p.K396del SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR NM_005626.4 NP_005617.2 Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 396 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 CAGTGTCTTCCTTCTTCTTCTTC 0.601 7 151 --- --- --- --- KIAA0907 22889 broad.mit.edu 37 1 155886422 155886423 + Frame_Shift_Del DEL CT CT - TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr1:155886422_155886423delCT ENST00000368320.3 - 12 1571_1572 c.1546_1547delAG c.(1546-1548)gfs p.R516fs KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs Q7Z7F0 K0907_HUMAN KIAA0907 516 p.R516fs*21(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TTACCTGTCCCTCTCTCTCTCT 0.396 7 151 --- --- --- --- GRB14 2888 broad.mit.edu 37 2 165365287 165365288 + Frame_Shift_Ins INS - - T TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr2:165365287_165365288insT ENST00000263915.3 - 7 1429_1430 c.891_892insA c.(889-894)aaatggfs p.W298fs GRB14_ENST00000543549.1_Frame_Shift_Ins_p.W211fs NM_004490.2 NP_004481.2 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 298 PH. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity p.K297fs*23(2) breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 GGTGCTCCATGTTTTTTTTTGC 0.371 7 126 --- --- --- --- OR52D1 390066 broad.mit.edu 37 11 5510687 5510688 + Frame_Shift_Ins INS - - C rs7101919 byFrequency TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr11:5510687_5510688insC ENST00000322641.5 + 1 773_774 c.751_752insC c.(751-753)cctfs p.P251fs AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 251 I -> T (in dbSNP:rs7101919). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATTGGCATCATCCTGGTTTTC 0.495 13 111 --- --- --- --- CD3EAP 10849 broad.mit.edu 37 19 45911859 45911861 + In_Frame_Del DEL GAA GAA - TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr19:45911859_45911861delGAA ENST00000309424.3 + 3 1121_1123 c.633_635delGAA c.(631-636)cgg>cg p.RK211del ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000423698.2_3'UTR NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 211 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) TGGATGTGCGGAAGAAGAAGAAG 0.581 7 151 --- --- --- --- AC008103.5 0 broad.mit.edu 37 22 18842473 18842473 + RNA DEL G G - rs66618606 TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr22:18842473delG ENST00000412938.1 + 0 2208 AGCTGCTGGTGGGGAGGTCTT 0.647 3 3 --- --- --- ---