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 OR2L3 391192 broad.mit.edu 37 1 248224375 248224375 + Missense_Mutation SNP A A T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr1:248224375A>T ENST00000359959.3 + 1 392 c.392A>T c.(391-393)tAt>tTt p.Y131F OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CCTCTTCACTATCCCATCCGC 0.433000 38 190 0 0 1 0 0 MYO6 4646 broad.mit.edu 37 6 76599795 76599795 + Missense_Mutation SNP C C G TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr6:76599795C>G ENST00000369981.3 + 26 2959 c.2680C>G c.(2680-2682)Caa>Gaa p.Q894E MYO6_ENST00000369985.4_Missense_Mutation_p.Q894E|MYO6_ENST00000369975.1_Missense_Mutation_p.Q894E|MYO6_ENST00000369977.3_Missense_Mutation_p.Q894E Q9UM54 MYO6_HUMAN myosin VI 894 actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) GACGCAGGAACAAATCCAGAA 0.353000 7 96 0 0 1 0 0 DDI1 414301 broad.mit.edu 37 11 103908727 103908727 + Nonsense_Mutation SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr11:103908727C>T ENST00000302259.3 + 1 1420 c.1177C>T c.(1177-1179)Cga>Tga p.R393* PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 393 proteolysis aspartic-type endopeptidase activity p.R393*(2) central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) GGATTCAGGACGAAAAGAGCA 0.428000 5 18 0 0 1 0 0 MYO1A 4640 broad.mit.edu 37 12 57422571 57422571 + Missense_Mutation SNP C C A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr12:57422571C>A ENST00000442789.2 - 29 3387 c.3100G>T c.(3100-3102)Ggg>Tgg p.G1034W MYO1A_ENST00000544473.1_Missense_Mutation_p.G872W|MYO1A_ENST00000300119.3_Missense_Mutation_p.G1034W|TAC3_ENST00000415231.1_5'UTR NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 1034 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 CAATGACTCCCCTTTTTTTTG 0.562000 16 119 4.7546e-09 5.12034e-09 1 1 0 ZNF473 25888 broad.mit.edu 37 19 50548736 50548736 + Missense_Mutation SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr19:50548736C>T ENST00000595661.1 + 6 1531 c.1036C>T c.(1036-1038)Cgc>Tgc p.R346C ZNF473_ENST00000391821.2_Missense_Mutation_p.R346C|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.R346C|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.R334C Q8WTR7 ZN473_HUMAN zinc finger protein 473 346 Interaction with SLBP/pre-mRNA complex. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) CACTCGGAAACGCTATGAGTG 0.478000 10 53 0 0 1 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38187124 38187124 + Silent SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr8:38187124G>A ENST00000317025.8 - 6 1870 c.1353C>T c.(1351-1353)agC>agT p.S451S WHSC1L1_ENST00000527502.1_Silent_p.S451S|WHSC1L1_ENST00000316985.3_Silent_p.S451S|WHSC1L1_ENST00000433384.2_Silent_p.S451S NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 451 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) GCCGCCTCTGGCTATGTCTCC 0.522000 T NUP98 AML 21 97 0 0 1 0 0 UNC5C 8633 broad.mit.edu 37 4 96163694 96163694 + Missense_Mutation SNP A A G TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr4:96163694A>G ENST00000453304.1 - 7 1342 c.994T>C c.(994-996)Tgc>Cgc p.C332R UNC5C_ENST00000506749.1_Missense_Mutation_p.C332R NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 332 TSP type-1 2. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) CAGTGGGTGCACTCAGTTCCA 0.592000 7 28 0 0 1 0 0 GAS7 8522 broad.mit.edu 37 17 9837515 9837515 + Missense_Mutation SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr17:9837515C>T ENST00000396115.1 - 9 983 c.673G>A c.(673-675)Gaa>Aaa p.E225K GAS7_ENST00000542249.1_Missense_Mutation_p.E230K|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000579158.1_Missense_Mutation_p.E237K|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000580865.1_Missense_Mutation_p.E145K|GAS7_ENST00000323816.4_Missense_Mutation_p.E221K|GAS7_ENST00000585266.1_Missense_Mutation_p.E221K|GAS7_ENST00000437099.2_Missense_Mutation_p.E221K|GAS7_ENST00000432992.2_Missense_Mutation_p.E285K NM_201432.1 NP_958836.1 O60861 GAS7_HUMAN growth arrest-specific 7 285 FCH. cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 39 ACTTCTGCTTCGTCCGCCAGG 0.537000 T MLL AML* 11 43 0 0 1 0 0 CAMK2A 815 broad.mit.edu 37 5 149636365 149636365 + Missense_Mutation SNP A A G TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr5:149636365A>G ENST00000348628.6 - 5 967 c.302T>C c.(301-303)aTc>aCc p.I101T CAMK2A_ENST00000398376.3_Missense_Mutation_p.I101T NM_015981.3|NM_171825.2 NP_057065.2|NP_741960.1 Q9UQM7 KCC2A_HUMAN calcium/calmodulin-dependent protein kinase II alpha 101 Protein kinase. interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1) 15 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCGGGCCACGATATCTTCAAA 0.592000 9 28 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33145197 33145197 + Missense_Mutation SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr6:33145197C>T ENST00000341947.2 - 23 2190 c.1963G>A c.(1963-1965)Ggg>Agg p.G655R COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374713.1_Missense_Mutation_p.G608R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G634R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G595R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G548R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G629R|COL11A2_ENST00000374708.4_Missense_Mutation_p.G569R|COL11A2_ENST00000374712.1_Missense_Mutation_p.G574R NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 655 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 ACCTGGGTCCCAGGGGTGCCC 0.552000 8 35 0 0 1 0 0 A2M 2 broad.mit.edu 37 12 9248214 9248214 + Missense_Mutation SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr12:9248214C>T ENST00000318602.7 - 16 2241 c.1934G>A c.(1933-1935)cGt>cAt p.R645H NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 645 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) GACATTATGACGATTGATGCA 0.398000 4 59 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87183144 87183144 + Missense_Mutation SNP G G T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr7:87183144G>T ENST00000265724.3 - 10 1349 c.932C>A c.(931-933)gCt>gAt p.A311D ABCB1_ENST00000543898.1_Missense_Mutation_p.A247D NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 311 ABC transmembrane type-1 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GAAGGCCAGAGCATAAGATGC 0.383000 25 128 7.92952e-12 8.73138e-12 1 1 0 MNDA 4332 broad.mit.edu 37 1 158815468 158815468 + Missense_Mutation SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr1:158815468C>T ENST00000368141.4 + 5 923 c.662C>T c.(661-663)gCg>gTg p.A221V NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 221 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) AAAGCAACAGCGCCATTTAAA 0.468000 8 44 0 0 1 0 0 BMP3 651 broad.mit.edu 37 4 81967316 81967316 + Silent SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr4:81967316C>T ENST00000282701.2 + 2 1061 c.741C>T c.(739-741)gcC>gcT p.A247A NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 247 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 CCAATGATGCCGCCATTTCTG 0.483000 20 87 0 0 1 0 0 ZNF777 27153 broad.mit.edu 37 7 149152540 149152540 + Missense_Mutation SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr7:149152540C>T ENST00000247930.4 - 2 897 c.574G>A c.(574-576)Gtc>Atc p.V192I NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 192 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) ACTGCTTGGACGGCAGCCCAC 0.587000 23 116 0 0 1 0 0 FGF14 2259 broad.mit.edu 37 13 102375254 102375254 + Missense_Mutation SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr13:102375254G>A ENST00000376131.4 - 5 781 c.686C>T c.(685-687)aCg>aTg p.T229M ITGBL1_ENST00000415285.1_3'UTR|FGF14_ENST00000376143.4_Missense_Mutation_p.T224M NM_175929.2 NP_787125.1 Q92915 FGF14_HUMAN fibroblast growth factor 14 224 cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction nucleus growth factor activity|heparin binding p.T224M(1)|p.T229M(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2) 29 all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTTACTTGGCGTCACCCCAGG 0.473000 10 76 0 0 1 0 0 FES 2242 broad.mit.edu 37 15 91436545 91436545 + Missense_Mutation SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr15:91436545G>A ENST00000328850.3 + 16 2088 c.1946G>A c.(1945-1947)cGc>cAc p.R649H FES_ENST00000444422.2_Missense_Mutation_p.R579H|FES_ENST00000414248.2_Missense_Mutation_p.R521H|FES_ENST00000450438.2_Missense_Mutation_p.R521H|FES_ENST00000394300.3_Missense_Mutation_p.R591H|FES_ENST00000394302.1_Missense_Mutation_p.R508H NM_002005.3 NP_001996.1 P07332 FES_HUMAN feline sarcoma oncogene 649 Protein kinase. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) ACCTTCCTCCGCACGGAGGGG 0.672000 5 25 0 0 1 0 0 MS4A6A 64231 broad.mit.edu 37 11 59949075 59949075 + Silent SNP G G A rs113133013 TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr11:59949075G>A ENST00000528851.1 - 2 266 c.126C>T c.(124-126)caC>caT p.H42H MS4A6A_ENST00000426738.2_Silent_p.H42H|MS4A6A_ENST00000530839.1_Silent_p.H42H|MS4A6A_ENST00000323961.3_Silent_p.H42H|MS4A6A_ENST00000529054.1_Silent_p.H70H|MS4A6A_ENST00000532169.1_Silent_p.H42H|MS4A6A_ENST00000412309.2_Silent_p.H70H|MS4A6A_ENST00000533023.1_Silent_p.H42H|MS4A6A_ENST00000420732.2_Silent_p.H42H Q9H2W1 M4A6A_HUMAN membrane-spanning 4-domains, subfamily A, member 6A 42 integral to membrane receptor activity p.H42H(1) endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGATTTCTGCGTGTAGATGTT 0.468000 29 95 0 0 1 0 0 SMR3A 26952 broad.mit.edu 37 4 71232487 71232487 + Missense_Mutation SNP G G T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr4:71232487G>T ENST00000226460.4 + 3 277 c.181G>T c.(181-183)Ggg>Tgg p.G61W NM_012390.3 NP_036522.3 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3A 61 Pro-rich. extracellular region endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4) 15 all_hematologic(202;0.196) CTATGGTCCAGGGAGATTTCC 0.552000 13 80 9.05144e-12 9.85601e-12 1 1 0 LACE1 246269 broad.mit.edu 37 6 108645100 108645100 + Missense_Mutation SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr6:108645100G>A ENST00000368977.4 + 2 397 c.211G>A c.(211-213)Gtt>Att p.V71I NM_145315.3 NP_660358.2 Q8WV93 LACE1_HUMAN lactation elevated 1 71 ATP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152) BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118) AGCTTTGGCCGTTTGCCATGG 0.398000 24 133 0 0 1 0 0 ISLR2 57611 broad.mit.edu 37 15 74425299 74425299 + Silent SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr15:74425299C>T ENST00000361742.3 + 4 973 c.204C>T c.(202-204)cgC>cgT p.R68R ISLR2_ENST00000445793.1_Silent_p.R68R|ISLR2_ENST00000435464.1_Silent_p.R68R|ISLR2_ENST00000565540.1_Silent_p.R68R|ISLR2_ENST00000419208.1_Silent_p.R68R|ISLR2_ENST00000453268.2_Silent_p.R68R|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.R68R NM_001130136.1|NM_020851.2 NP_001123608.1|NP_065902.1 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing leucine-rich repeat 2 68 positive regulation of axon extension cell surface|integral to membrane|plasma membrane breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 TGCTGCGGCGCGGGGCCTTCG 0.642000 4 61 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145379666 145379666 + Missense_Mutation SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr5:145379666G>A ENST00000511217.1 + 2 476 c.424G>A c.(424-426)Ggt>Agt p.G142S SH3RF2_ENST00000359120.4_Missense_Mutation_p.G142S Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 142 SH3 1. ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCAGAATCCCGGTGACCTAAG 0.483000 12 56 0 0 1 0 0 MUC15 143662 broad.mit.edu 37 11 26584679 26584679 + Silent SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr11:26584679G>A ENST00000436318.2 - 3 1042 c.909C>T c.(907-909)gaC>gaT p.D303D MUC15_ENST00000455601.2_Silent_p.D276D|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000281268.8_Intron|MUC15_ENST00000527569.1_Intron|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000529533.1_Silent_p.D303D Q8N387 MUC15_HUMAN mucin 15, cell surface associated 276 extracellular region|integral to membrane|plasma membrane p.D276D(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 CATTTCTGTCGTCATAAAGTC 0.408000 22 102 0 0 1 0 0 OR4X2 119764 broad.mit.edu 37 11 48266656 48266656 + Translation_Start_Site SNP A A T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr11:48266656A>T ENST00000302329.3 + 1 49 c.1A>T c.(1-3)Atg>Ttg p.M1L NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 CATACACAACATGACTGAATT 0.418000 7 79 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42166142 42166142 + Silent SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr15:42166142G>A ENST00000320955.6 - 25 5018 c.4791C>T c.(4789-4791)atC>atT p.I1597I NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1597 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) ACTGCTCCACGATGTGTTGGG 0.647000 4 33 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 2787238 2787238 + Missense_Mutation SNP G G T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr3:2787238G>T ENST00000397461.1 + 5 599 c.215G>T c.(214-216)gGt>gTt p.G72V CNTN4_ENST00000418658.1_Missense_Mutation_p.G72V|CNTN4_ENST00000427331.1_Missense_Mutation_p.G72V NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 72 Ig-like C2-type 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) GTTGACACTGGTATGGATTTC 0.378000 31 113 1.60099e-16 1.78292e-16 1 1 0 PNMA3 29944 broad.mit.edu 37 X 152226591 152226591 + Silent SNP A A T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chrX:152226591A>T ENST00000447306.1 + 2 1515 c.1179A>T c.(1177-1179)cgA>cgT p.R393R PNMA3_ENST00000370264.4_Silent_p.R393R|PNMA3_ENST00000370265.4_Silent_p.R393R NM_013364.4 NP_037496.3 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 393 Arg-rich. apoptosis nucleolus nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) GCCAACACCGAAGGGGTGGTG 0.607000 7 54 0 0 1 0 0 KAT5 10524 broad.mit.edu 37 11 65486590 65486590 + Missense_Mutation SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr11:65486590C>T ENST00000341318.4 + 13 1813 c.1579C>T c.(1579-1581)Cgg>Tgg p.R527W KAT5_ENST00000534650.1_Missense_Mutation_p.R283W|KAT5_ENST00000530446.1_Missense_Mutation_p.R475W|KAT5_ENST00000377046.3_Missense_Mutation_p.R494W|KAT5_ENST00000352980.4_Missense_Mutation_p.R442W|RNASEH2C_ENST00000308418.4_3'UTR NM_182710.2 NP_874369.1 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 494 androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9) 21 GCGGCTCCTGCGGATCGACTC 0.607000 8 32 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28539970 28539970 + Silent SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr6:28539970G>A ENST00000452236.2 - 4 4313 c.3696C>T c.(3694-3696)acC>acT p.T1232T NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1232 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 atccttcgtcggtagccagct 0.343000 10 56 0 0 1 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204438817 204438817 + Silent SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr1:204438817G>A ENST00000367187.3 - 3 670 c.114C>T c.(112-114)tcC>tcT p.S38S PIK3C2B_ENST00000424712.2_Silent_p.S38S NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 38 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GCCGGAGCCGGGACAGGGCAT 0.587000 13 469 0 0 1 0 0 MS4A7 58475 broad.mit.edu 37 11 60152586 60152586 + Missense_Mutation SNP T T G TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr11:60152586T>G ENST00000300184.3 + 3 369 c.173T>G c.(172-174)tTg>tGg p.L58W MS4A7_ENST00000358246.1_Intron|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000530234.2_Missense_Mutation_p.L58W|MS4A7_ENST00000534016.1_Intron NM_021201.4|NM_206939.1 NP_067024.1|NP_996822.1 Q9GZW8 MS4A7_HUMAN membrane-spanning 4-domains, subfamily A, member 7 58 integral to membrane receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1) 20 TGTTGCCTGTTGATTTCAAGT 0.438000 18 124 0 0 1 0 0 TMEM201 199953 broad.mit.edu 37 1 9661231 9661231 + Nonsense_Mutation SNP C C A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr1:9661231C>A ENST00000340305.5 + 5 684 c.675C>A c.(673-675)tgC>tgA p.C225* TMEM201_ENST00000377376.4_Nonsense_Mutation_p.C225*|TMEM201_ENST00000340381.6_Nonsense_Mutation_p.C225* NM_001010866.3 NP_001010866.1 Q5SNT2 TM201_HUMAN transmembrane protein 201 225 integral to membrane|nuclear inner membrane lung(3)|upper_aerodigestive_tract(1) 4 all_lung(157;0.222) all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419) TCCTGGCCTGCGCCTTCCTAC 0.657000 4 96 0.014758 0.014758 1 1 0 MYH7 4625 broad.mit.edu 37 14 23887583 23887583 + Silent SNP C C T rs144465613 byFrequency TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr14:23887583C>T ENST00000355349.3 - 30 4167 c.4005G>A c.(4003-4005)tcG>tcA p.S1335S NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335S(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGCCGGGCCGACTGCAGTG 0.662000 3 46 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89348857 89348857 + Nonsense_Mutation SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr16:89348857G>A ENST00000301030.4 - 9 4553 c.4093C>T c.(4093-4095)Cga>Tga p.R1365* ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.R1365* NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1365 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TTCTTGGCTCGCTCTCGGTCG 0.562000 14 55 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32632119 32632119 + Silent SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr9:32632119C>T ENST00000242310.4 - 1 3548 c.3459G>A c.(3457-3459)ctG>ctA p.L1153L NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1153 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AGCCTGCTACCAGTAGCATTC 0.483000 12 65 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28913648 28913648 + Missense_Mutation SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr18:28913648G>A ENST00000257192.4 + 7 993 c.781G>A c.(781-783)Gat>Aat p.D261N NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 261 Cadherin 2. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) TAAAATCCTCGATGTCAATGA 0.398000 9 46 0 0 1 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204438785 204438785 + Missense_Mutation SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr1:204438785G>A ENST00000367187.3 - 3 702 c.146C>T c.(145-147)gCc>gTc p.A49V PIK3C2B_ENST00000424712.2_Missense_Mutation_p.A49V NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 49 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GTTCTGCTTGGCTCTGTTCTC 0.592000 17 474 0 0 1 0 0 CLEC2B 9976 broad.mit.edu 37 12 10005934 10005934 + Missense_Mutation SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr12:10005934C>T ENST00000228438.2 - 5 1348 c.415G>A c.(415-417)Gaa>Aaa p.E139K CLEC2B_ENST00000538152.1_Missense_Mutation_p.E70K NM_005127.2 NP_005118.2 Q92478 CLC2B_HUMAN C-type lectin domain family 2, member B 139 C-type lectin. integral to plasma membrane sugar binding endometrium(1)|large_intestine(3)|lung(1) 5 CATTTTCTTTCGGTGTAACAT 0.383000 7 32 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16162084 16162084 + Silent SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr16:16162084C>T ENST00000399408.2 + 13 1924 c.1749C>T c.(1747-1749)ttC>ttT p.F583F ABCC1_ENST00000346370.5_Silent_p.F583F|ABCC1_ENST00000351154.5_Silent_p.F583F|ABCC1_ENST00000345148.5_Silent_p.F583F|ABCC1_ENST00000399410.3_Silent_p.F583F|ABCC1_ENST00000349029.5_Silent_p.F583F P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 583 ABC transmembrane type-1 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) AGACAGCCTTCGTGTCTTTGG 0.562000 31 91 0 0 1 0 0 OPN1LW 5956 broad.mit.edu 37 X 153421855 153421855 + Nonsense_Mutation SNP C C G TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chrX:153421855C>G ENST00000369951.4 + 5 891 c.831C>G c.(829-831)taC>taG p.Y277* OPN1LW_ENST00000463296.1_3'UTR NM_020061.4 NP_064445.1 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 277 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 15 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCTTTGCGTACTGCGTCTGCT 0.567000 52 200 0 0 1 0 0 GPR115 221393 broad.mit.edu 37 6 47681909 47681909 + Missense_Mutation SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr6:47681909G>A ENST00000283303.2 + 6 1186 c.928G>A c.(928-930)Gtg>Atg p.V310M GPR115_ENST00000327753.3_Missense_Mutation_p.V310M|GPR115_ENST00000371220.1_Missense_Mutation_p.V367M NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 310 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 CTTGCAAAATGTGAGTCTTCC 0.468000 9 62 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158622273 158622273 + Missense_Mutation SNP A A T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr1:158622273A>T ENST00000368148.3 - 23 3539 c.3359T>A c.(3358-3360)tTt>tAt p.F1120Y SPTA1_ENST00000368147.3_Missense_Mutation_p.F1120Y NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1120 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) GAACTCATCAAACTTTTTCTG 0.398000 15 112 0 0 1 0 0 ZNF285 26974 broad.mit.edu 37 19 44891689 44891689 + Missense_Mutation SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr19:44891689C>T ENST00000330997.4 - 4 782 c.718G>A c.(718-720)Gcc>Acc p.A240T ZNF285_ENST00000591679.1_Missense_Mutation_p.A247T|ZNF285_ENST00000544719.2_Missense_Mutation_p.A240T|CTC-512J12.6_ENST00000588212.1_Intron NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 TCTGCAAAGGCCACCCCACAG 0.433000 26 128 0 0 1 0 0 NEFM 4741 broad.mit.edu 37 8 24771450 24771450 + Silent SNP G G C TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr8:24771450G>C ENST00000221166.5 + 1 926 c.144G>C c.(142-144)gtG>gtC p.V48V NEFM_ENST00000518131.1_Silent_p.V48V|NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Silent_p.V48V P07197 NFM_HUMAN neurofilament, medium polypeptide 48 Head. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) CCAGCACCGTGTCCTCCTCCT 0.687000 8 37 0 0 1 0 0 XKR7 343702 broad.mit.edu 37 20 30585186 30585186 + Missense_Mutation SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr20:30585186C>T ENST00000217299.3 + 3 1840 c.1666C>T c.(1666-1668)Cct>Tct p.P556S NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 556 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GTACTCCTCACCTGCCACGCC 0.587000 17 59 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79437135 79437135 + Missense_Mutation SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr4:79437135G>A ENST00000264895.6 + 66 10797 c.10357G>A c.(10357-10359)Gtc>Atc p.V3453I NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3448 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GCTGATTGACGTCTGTGGGGG 0.537000 4 21 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179604671 179604671 + Missense_Mutation SNP A A T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr2:179604671A>T ENST00000589042.1 - 48 13513 c.13289T>A c.(13288-13290)gTa>gAa p.V4430E TTN_ENST00000359218.5_Missense_Mutation_p.V4192E|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V4113E|TTN_ENST00000342175.6_Missense_Mutation_p.V4259E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V4067E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4113 Ig-like 24. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTGATGTTTACAGCCTCGAC 0.463000 18 96 0 0 1 0 0 TXNDC15 79770 broad.mit.edu 37 5 134210146 134210146 + Missense_Mutation SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr5:134210146C>T ENST00000358387.4 + 1 654 c.29C>T c.(28-30)cCc>cTc p.P10L NM_024715.3 NP_078991.3 Q96J42 TXD15_HUMAN thioredoxin domain containing 15 10 cell redox homeostasis integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CGACGACCGCCCCGCGTCATG 0.716000 10 59 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136594291 136594291 + Silent SNP G G A rs148264625 byFrequency TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr6:136594291G>A ENST00000531224.1 - 7 2139 c.1887C>T c.(1885-1887)aaC>aaT p.N629N BCLAF1_ENST00000353331.4_Silent_p.N627N|BCLAF1_ENST00000527536.1_Silent_p.N629N|BCLAF1_ENST00000392348.2_Silent_p.N627N|BCLAF1_ENST00000530767.1_Silent_p.N456N|BCLAF1_ENST00000527759.1_Silent_p.N627N NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 629 N -> S (in dbSNP:rs7381749). 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) TGAACCGCTCGTTTAGGGTCA 0.393000 21 298 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107603490 107603490 + Missense_Mutation SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr7:107603490G>A ENST00000393561.1 - 13 1973 c.1789C>T c.(1789-1791)Cgg>Tgg p.R597W LAMB1_ENST00000393560.1_Missense_Mutation_p.R573W|LAMB1_ENST00000222399.6_Missense_Mutation_p.R573W P07942 LAMB1_HUMAN laminin, beta 1 573 Laminin IV type B. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATATATTGCCGCTCCACTATG 0.448000 18 130 0 0 1 0 0 TRBV7-3 0 broad.mit.edu 37 7 142247149 142247149 + RNA SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr7:142247149G>A ENST00000390361.3 - 0 356 GAGTCCCCCCGCTCTGTGCGC 0.572000 13 77 0 0 1 0 0 CATSPER1 117144 broad.mit.edu 37 11 65788325 65788325 + Silent SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr11:65788325C>T ENST00000312106.5 - 6 2021 c.1884G>A c.(1882-1884)acG>acA p.T628T NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 628 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 AGTCATCCAGCGTGAGCAAGG 0.637000 6 31 0 0 1 0 0 ACKR6 0 broad.mit.edu 37 17 6380417 6380417 + Silent SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr17:6380417C>T ENST00000262483.8 - 9 1104 c.1017G>A c.(1015-1017)ccG>ccA p.P339P ACKR6_ENST00000421306.3_Silent_p.P303P NM_031220.3 NP_112497.2 TCTGTTTCCGCGGCAACGGCC 0.582000 8 30 0 0 1 0 0 LINC00202-2 0 broad.mit.edu 37 10 26939502 26939502 + RNA SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr10:26939502C>T ENST00000544033.1 + 0 5435 NR_026794.1 ATGGCACCACCCAGCCCAATG 0.468000 10 45 0 0 1 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141407833 141407833 + Silent SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr8:141407833C>T ENST00000389328.4 - 7 1328 c.1314G>A c.(1312-1314)gcG>gcA p.A438A TRAPPC9_ENST00000438773.2_Silent_p.A340A|TRAPPC9_ENST00000389327.3_Silent_p.A331A NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 340 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 CAATCACTCCCGCATTCTTAT 0.433000 13 101 0 0 1 0 0 ISPD 729920 broad.mit.edu 37 7 16445756 16445756 + Missense_Mutation SNP T T A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr7:16445756T>A ENST00000407010.2 - 2 463 c.464A>T c.(463-465)cAt>cTt p.H155L ISPD_ENST00000399310.3_Missense_Mutation_p.H155L NM_001101426.3 NP_001094896.1 A4D126 ISPD_HUMAN isoprenoid synthase domain containing 155 isoprenoid biosynthetic process nucleotidyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1) 9 CACAGCATCATGGATAATCAC 0.433000 Multiple Myeloma(15;0.18) 10 65 0 0 1 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204438640 204438640 + Silent SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr1:204438640G>A ENST00000367187.3 - 3 847 c.291C>T c.(289-291)tcC>tcT p.S97S PIK3C2B_ENST00000424712.2_Silent_p.S97S NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 97 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) CTTCCTGTGGGGAGAGTGAGT 0.572000 13 390 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11573026 11573026 + Nonsense_Mutation SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr17:11573026C>T ENST00000262442.3 + 17 3336 c.3268C>T c.(3268-3270)Cga>Tga p.R1090* DNAH9_ENST00000454412.2_Nonsense_Mutation_p.R1090* NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1090 Stem (By similarity). 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) AATTGATATTCGACCCTTTAA 0.443000 23 153 0 0 1 0 0 CRX 1406 broad.mit.edu 37 19 48339541 48339541 + Missense_Mutation SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr19:48339541C>T ENST00000221996.7 + 3 348 c.142C>T c.(142-144)Cgg>Tgg p.R48W TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.R48W NM_000554.4 NP_000545.1 O43186 CRX_HUMAN cone-rod homeobox 48 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1) 23 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) CACCTTCACCCGGAGCCAACT 0.632000 8 52 0 0 1 0 0 SUMF2 25870 broad.mit.edu 37 7 56146102 56146102 + Missense_Mutation SNP C C T rs150538960 TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr7:56146102C>T ENST00000434526.2 + 8 810 c.779C>T c.(778-780)cCg>cTg p.P260L SUMF2_ENST00000275607.9_Missense_Mutation_p.P153L|SUMF2_ENST00000395436.2_Missense_Mutation_p.P245L|SUMF2_ENST00000395435.2_Missense_Mutation_p.P176L|SUMF2_ENST00000342190.6_Intron|SUMF2_ENST00000437307.2_Missense_Mutation_p.P172L|SUMF2_ENST00000413756.1_Missense_Mutation_p.P241L NM_001042469.1|NM_015411.2 NP_001035934.2|NP_056226.2 Q8NBJ7 SUMF2_HUMAN sulfatase modifying factor 2 241 endoplasmic reticulum lumen metal ion binding breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 14 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ACAGCATCACCGTACCAGGCT 0.687000 7 92 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142606688 142606688 + Silent SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr7:142606688G>A ENST00000265310.1 - 14 2211 c.1863C>T c.(1861-1863)tgC>tgT p.C621C NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 621 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) GCCCGAATTCGCACCCACAGA 0.607000 10 48 0 0 1 0 0 KCNH2 3757 broad.mit.edu 37 7 150646032 150646032 + Missense_Mutation SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr7:150646032C>T ENST00000392968.2 - 8 3336 c.2216G>A c.(2215-2217)cGg>cAg p.R739Q KCNH2_ENST00000330883.4_Missense_Mutation_p.R495Q|KCNH2_ENST00000262186.5_Missense_Mutation_p.R835Q Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 835 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) CAGGTCGTCCCGATGGATCTT 0.567000 8 75 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170050323 170050323 + Silent SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr2:170050323G>A ENST00000263816.3 - 47 9063 c.8778C>T c.(8776-8778)gaC>gaT p.D2926D NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2926 LDL-receptor class A 21. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CATTATCACCGTCACAGATCC 0.473000 18 111 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48256601 48256601 + Missense_Mutation SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr16:48256601G>A ENST00000394747.1 - 5 1034 c.685C>T c.(685-687)Cgc>Tgc p.R229C ABCC11_ENST00000394748.1_Missense_Mutation_p.R229C|ABCC11_ENST00000356608.2_Missense_Mutation_p.R229C|ABCC11_ENST00000353782.5_Missense_Mutation_p.R229C|ABCC11_ENST00000537808.1_Missense_Mutation_p.R229C NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 229 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) ATGGCTGTGCGTTGGTTGATG 0.483000 13 62 0 0 1 0 0 ANKMY1 51281 broad.mit.edu 37 2 241468646 241468646 + Missense_Mutation SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr2:241468646G>A ENST00000391987.1 - 5 860 c.494C>T c.(493-495)aCg>aTg p.T165M ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.T254M|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.T165M|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000536462.1_Intron Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 165 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) TGGAGGCAGCGTTAGGTTGTC 0.502000 9 44 0 0 1 0 0 SPESP1 246777 broad.mit.edu 37 15 69238119 69238119 + Silent SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr15:69238119C>T ENST00000310673.3 + 2 400 c.246C>T c.(244-246)gaC>gaT p.D82D NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000448182.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA NM_145658.3 NP_663633.1 Q6UW49 SPESP_HUMAN sperm equatorial segment protein 1 82 multicellular organismal development acrosomal vesicle breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 19 CACATGGAGACGCTTCAACTG 0.393000 21 64 0 0 1 0 0 HKDC1 80201 broad.mit.edu 37 10 71008236 71008236 + Missense_Mutation SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr10:71008236G>A ENST00000354624.5 + 10 1455 c.1322G>A c.(1321-1323)cGc>cAc p.R441H HKDC1_ENST00000488706.1_3'UTR|HKDC1_ENST00000395086.2_Missense_Mutation_p.R441H NM_025130.3 NP_079406.3 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 441 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity p.V440fs*51(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 TGTGATGTCCGCTTCCTCCTG 0.597000 21 56 0 0 1 0 0 UFSP2 55325 broad.mit.edu 37 4 186339907 186339907 + Missense_Mutation SNP C C A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr4:186339907C>A ENST00000264689.6 - 3 216 c.100G>T c.(100-102)Gca>Tca p.A34S UFSP2_ENST00000502282.1_5'UTR NM_018359.3 NP_060829.2 Q9NUQ7 UFSP2_HUMAN UFM1-specific peptidase 2 34 endoplasmic reticulum|nucleus small conjugating protein-specific protease activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166) TGTTTCAGTGCCTTCTTGAGA 0.343000 9 52 0.00448238 0.00457576 1 1 0 ZXDB 158586 broad.mit.edu 37 X 57619831 57619831 + Silent SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chrX:57619831C>T ENST00000374888.1 + 1 1563 c.1350C>T c.(1348-1350)ggC>ggT p.G450G NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 450 Required for interaction with ZXDC (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 GTCACACCGGCGAGAGACCTT 0.483000 16 75 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc 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 20 0 0 1 0 0 OR51F2 119694 broad.mit.edu 37 11 4842972 4842972 + Silent SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr11:4842972C>T ENST00000322110.5 + 1 422 c.357C>T c.(355-357)caC>caT p.H119H MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTTTCTACACGGATTTACTT 0.468000 21 139 0 0 1 0 0 PPM1N 147699 broad.mit.edu 37 19 46002331 46002331 + Silent SNP C C A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr19:46002331C>A ENST00000324688.4 + 1 467 c.367C>A c.(367-369)Cgg>Agg p.R123R PPM1N_ENST00000456399.2_Intron|PPM1N_ENST00000451287.2_Silent_p.R201R|PPM1N_ENST00000396737.2_Intron|PPM1N_ENST00000401705.1_Intron Q8N819 PPM1N_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) 201 PP2C-like. magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6) 9 AGAGGACCACCGGCCCCTTCG 0.736000 7 14 0.00198382 0.00204647 1 1 0 CYP3A4 1576 broad.mit.edu 37 7 99367747 99367747 + Nonsense_Mutation SNP C C A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr7:99367747C>A ENST00000336411.2 - 5 613 c.430G>T c.(430-432)Gag>Tag p.E144* CYP3A4_ENST00000354593.2_Intron NM_001202855.2|NM_017460.5 NP_001189784.1|NP_059488.2 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 4 144 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) TTTCATACCTCCTTGAGTTTT 0.393000 13 65 0.000422831 0.000445564 1 1 0 ANO2 57101 broad.mit.edu 37 12 5708776 5708776 + Nonsense_Mutation SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr12:5708776G>A ENST00000356134.5 - 22 2181 c.2110C>T c.(2110-2112)Cga>Tga p.R704* ANO2_ENST00000327087.8_Nonsense_Mutation_p.R703*|ANO2_ENST00000546188.1_Nonsense_Mutation_p.R704* NM_001278596.1|NM_001278597.1 NP_001265525.1|NP_001265526.1 Q9NQ90 ANO2_HUMAN anoctamin 2 708 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity p.R704*(1) central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 TTCAGCTTTCGAAATAGTTTC 0.428000 10 55 0 0 1 0 0 SCRN1 9805 broad.mit.edu 37 7 29976211 29976211 + Missense_Mutation SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr7:29976211G>A ENST00000426154.1 - 6 1042 c.866C>T c.(865-867)cCg>cTg p.P289L SCRN1_ENST00000242059.5_Missense_Mutation_p.P289L|SCRN1_ENST00000409497.1_Missense_Mutation_p.P289L|SCRN1_ENST00000416113.2_Missense_Mutation_p.P115L NM_001145513.1 NP_001138985.1 Q12765 SCRN1_HUMAN secernin 1 289 exocytosis|proteolysis cytoplasm|nuclear membrane dipeptidase activity p.P289Q(1)|p.P309Q(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2) 25 GTGAATGCACGGAGAGCTTCT 0.522000 26 160 0 0 1 0 0 TEK 7010 broad.mit.edu 37 9 27217702 27217702 + Missense_Mutation SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr9:27217702G>A ENST00000380036.4 + 19 3450 c.3008G>A c.(3007-3009)cGc>cAc p.R1003H TEK_ENST00000519097.1_Missense_Mutation_p.R855H|TEK_ENST00000406359.4_Missense_Mutation_p.R960H NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 1003 Protein kinase. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) CTCCCAGTGCGCTGGATGGCC 0.483000 10 33 0 0 1 0 0 OTOP2 92736 broad.mit.edu 37 17 72926410 72926410 + Missense_Mutation SNP T T A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr17:72926410T>A ENST00000331427.4 + 6 772 c.680T>A c.(679-681)cTc>cAc p.L227H OTOP2_ENST00000580223.1_Missense_Mutation_p.L227H NM_178160.2 NP_835454.1 Q7RTS6 OTOP2_HUMAN otopetrin 2 227 integral to membrane breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) GACTCCTGCCTCTGCAGCACG 0.577000 39 170 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128196 152128196 + Missense_Mutation SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr1:152128196C>T ENST00000316073.3 - 3 1443 c.1379G>A c.(1378-1380)aGt>aAt p.S460N NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 460 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 ATAGTGGGAACTCTGGCCTTG 0.512000 10 806 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7645562 7645562 + Silent SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr16:7645562C>T ENST00000340209.4 + 5 792 c.495C>T c.(493-495)ttC>ttT p.F165F RBFOX1_ENST00000355637.4_Silent_p.F180F|RBFOX1_ENST00000547372.1_Silent_p.F203F|RBFOX1_ENST00000550418.1_Silent_p.F160F|RBFOX1_ENST00000552089.1_Silent_p.F177F|RBFOX1_ENST00000436368.2_Silent_p.F180F|RBFOX1_ENST00000311745.5_Silent_p.F180F|RBFOX1_ENST00000553186.1_Silent_p.F160F|RBFOX1_ENST00000547338.1_Silent_p.F160F|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000422070.4_Silent_p.F203F Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 160 RRM. mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 GATTTGGTTTCGTAACTTTCG 0.443000 21 101 0 0 1 0 0 TMEM52 339456 broad.mit.edu 37 1 1849422 1849422 + Missense_Mutation SNP G G C TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr1:1849422G>C ENST00000378602.3 - 2 724 c.484C>G c.(484-486)Ccc>Gcc p.P162A TMEM52_ENST00000310991.3_Missense_Mutation_p.P177A Q8NDY8 TMM52_HUMAN transmembrane protein 52 177 integral to membrane NS(1)|prostate(1)|stomach(1) 3 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AGAGGGCTGGGTTTCTGGGAG 0.622000 11 136 0 0 1 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104984675 104984675 + Missense_Mutation SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chrX:104984675C>T ENST00000372582.1 + 8 1795 c.1039C>T c.(1039-1041)Cgt>Tgt p.R347C IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.R347C|IL1RAPL2_ENST00000485671.1_3'UTR NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 347 Ig-like C2-type 3. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity p.R347C(1) breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TGTTTTGCTGCGTAAAAAGGG 0.368000 13 84 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7646393 7646393 + Missense_Mutation SNP C C T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr17:7646393C>T ENST00000572933.1 + 12 3297 c.1837C>T c.(1837-1839)Cgg>Tgg p.R613W DNAH2_ENST00000389173.2_Missense_Mutation_p.R613W|DNAH2_ENST00000082259.3_Missense_Mutation_p.R695W|DNAH2_ENST00000570791.1_Missense_Mutation_p.R695W Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 613 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TTGCATTCGGCGGTTGGATAC 0.527000 7 64 0 0 1 0 0 AC226119.5 0 broad.mit.edu 37 4 3954857 3954857 + RNA SNP C C A rs17410899 TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr4:3954857C>A ENST00000281228.8 - 0 141 FAM86EP_ENST00000313946.8_RNA AATATCCCGCCGCAGCTCAGA 0.488000 3 80 0.000602214 0.000627841 1 1 0 SLCO1B1 10599 broad.mit.edu 37 12 21355502 21355502 + Missense_Mutation SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr12:21355502G>A ENST00000256958.2 + 10 1309 c.1213G>A c.(1213-1215)Gtt>Att p.V405I NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 405 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) ACTGAACACCGTTGGAATTGC 0.313000 20 46 0 0 1 0 0 EYA4 2070 broad.mit.edu 37 6 133789766 133789766 + Silent SNP G G A TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr6:133789766G>A ENST00000367895.5 + 11 1331 c.867G>A c.(865-867)acG>acA p.T289T EYA4_ENST00000525849.1_Silent_p.T266T|EYA4_ENST00000355167.3_Silent_p.T289T|EYA4_ENST00000452339.2_Silent_p.T235T|EYA4_ENST00000431403.2_Silent_p.T289T|EYA4_ENST00000430974.2_Silent_p.T235T|EYA4_ENST00000531901.1_Silent_p.T289T|EYA4_ENST00000355286.6_Silent_p.T266T NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 289 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) CAGCATCAACGTATGGAGCGT 0.423000 13 52 0 0 1 0 0 CLEC3B 7123 broad.mit.edu 37 3 45072406 45072406 + Frame_Shift_Del DEL C C - TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr3:45072406delC ENST00000296130.4 + 2 377 c.197delC c.(196-198)gcfs p.A66fs CLEC3B_ENST00000428034.1_Frame_Shift_Del_p.A24fs|CLEC3B_ENST00000490386.1_3'UTR NM_003278.2 NP_003269.2 P05452 TETN_HUMAN C-type lectin domain family 3, member B 66 skeletal system development extracellular space protein binding|sugar binding endometrium(1)|lung(3) 4 BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAGCAGCAGGCCCTGCAGACG 0.612 2 4 --- --- --- --- DST 667 broad.mit.edu 37 6 56362694 56362695 + Frame_Shift_Ins INS - - T TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr6:56362694_56362695insT ENST00000370754.5 - 81 19959_19960 c.19960_19961insA c.(19960-19962)agafs p.R6654fs DST_ENST00000446842.2_Frame_Shift_Ins_p.R6150fs|DST_ENST00000370769.4_Frame_Shift_Ins_p.R6476fs|DST_ENST00000370788.2_Frame_Shift_Ins_p.R4279fs|DST_ENST00000361203.3_Frame_Shift_Ins_p.R6365fs|DST_ENST00000312431.6_3'UTR|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Frame_Shift_Ins_p.R4062fs|DST_ENST00000421834.2_Frame_Shift_Ins_p.R4388fs Q03001 DYST_HUMAN dystonin 6474 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CCTTTGTTCTGTTTTTTCCAAA 0.391 8 44 --- --- --- --- DYNC2H1 79659 broad.mit.edu 37 11 103116061 103116061 + Frame_Shift_Del DEL C C - TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr11:103116061delC ENST00000375735.2 + 65 10144 c.10000delC c.(10000-10002)ctfs p.P3334fs DYNC2H1_ENST00000398093.3_Frame_Shift_Del_p.P3341fs|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3334 AAA 5 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TGGTGTAGAACCTGTTCTTTA 0.313 2 4 --- --- --- --- hsa-mir-7162 0 broad.mit.edu 37 15 62538522 62538523 + RNA INS - - GA rs3055695 TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr15:62538522_62538523insGA ENST00000570077.1 - 0 693_694 GGGGGCTCCGGGTAGGGGTTCA 0.609 3 5 --- --- --- --- FAM83D 81610 broad.mit.edu 37 20 37555323 37555325 + In_Frame_Del DEL GCG GCG - TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr20:37555323_37555325delGCG ENST00000217429.4 + 1 369_371 c.328_330delGCG c.(328-330)del p.A116del NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 86 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) AGAGGAGGGCgcggcggcggcgg 0.719 2 4 --- --- --- --- MIR3648 0 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 4 3 --- --- --- --- DCX 1641 broad.mit.edu 37 X 110644519 110644519 + Frame_Shift_Del DEL T T - TCGA-E1-A7YN-01A-11D-A34A-08 TCGA-E1-A7YN-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcb1831c-3b62-45ce-8750-31fa7f3ebe7f 7a87f52e-8414-45c7-befa-a0acc48b6fbc g.chrX:110644519delT ENST00000338081.3 - 3 818 c.647delA c.(646-648)agfs p.K216fs DCX_ENST00000371993.2_Frame_Shift_Del_p.K135fs|DCX_ENST00000488120.1_Frame_Shift_Del_p.K135fs|DCX_ENST00000356915.2_Frame_Shift_Del_p.K135fs|DCX_ENST00000356220.3_Frame_Shift_Del_p.K135fs|DCX_ENST00000496551.1_5'UTR NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 216 Doublecortin 1. axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 GTACTCCACCTTTTTAAAGAA 0.403 17 88 --- --- --- ---