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 PLEC 5339 broad.mit.edu 37 8 144991068 144991068 + Silent SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr8:144991068C>T ENST00000322810.4 - 32 13501 c.13332G>A c.(13330-13332)acG>acA p.T4444T PLEC_ENST00000356346.3_Silent_p.T4293T|PLEC_ENST00000527096.1_Silent_p.T4330T|PLEC_ENST00000436759.2_Silent_p.T4334T|PLEC_ENST00000357649.2_Silent_p.T4311T|PLEC_ENST00000345136.3_Silent_p.T4307T|PLEC_ENST00000354958.2_Silent_p.T4285T|PLEC_ENST00000354589.3_Silent_p.T4307T|PLEC_ENST00000398774.2_Silent_p.T4275T NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4444 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCCGCTGCCCCGTGATGTTAT 0.677000 3 47 0 0 0.009096 0 0 CIDECP 152302 broad.mit.edu 37 3 10059555 10059555 + RNA SNP T T A rs1053235 TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:10059555T>A ENST00000432401.1 - 0 505 GTGGGGCCCCTAGTCTAGTCC 0.607000 9 24 0 0 0.047766 0 0 RYR2 6262 broad.mit.edu 37 1 237969504 237969504 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:237969504C>T ENST00000366574.2 + 99 14536 c.14219C>T c.(14218-14220)gCc>gTc p.A4740V RYR2_ENST00000542537.1_Missense_Mutation_p.A4724V|RYR2_ENST00000360064.6_Missense_Mutation_p.A4746V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4740 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTTTTTTTTGCCGCTCACCTT 0.403000 3 29 0 0 0.115264 0 0 PC 5091 broad.mit.edu 37 11 66617416 66617416 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr11:66617416G>A ENST00000393960.1 - 20 3171 c.2890C>T c.(2890-2892)Cgc>Tgc p.R964C PC_ENST00000529047.1_Missense_Mutation_p.R84C|PC_ENST00000393955.2_Missense_Mutation_p.R964C|PC_ENST00000393958.2_Missense_Mutation_p.R964C NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 964 gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) ACCTTAGAGCGAAAGGGTTCG 0.627000 10 31 0 0 0.080935 0 0 ZNF763 284390 broad.mit.edu 37 19 12089308 12089308 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr19:12089308G>A ENST00000343949.5 + 4 733 c.578G>A c.(577-579)cGc>cAc p.R193H ZNF763_ENST00000538752.1_Missense_Mutation_p.R210H|ZNF763_ENST00000358987.3_Missense_Mutation_p.R190H|ZNF763_ENST00000545530.1_Missense_Mutation_p.R68H|ZNF763_ENST00000590798.1_Missense_Mutation_p.R210H NM_001012753.1 NP_001012771.1 zinc finger protein 763 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9) 15 ATTCGAAGACGCATGGTAATG 0.408000 40 94 0 0 0.098360 0 0 GPR75 10936 broad.mit.edu 37 2 54080512 54080512 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr2:54080512G>A ENST00000394705.2 - 2 1652 c.1382C>T c.(1381-1383)tCt>tTt p.S461F GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron NM_006794.3 NP_006785.1 O95800 GPR75_HUMAN G protein-coupled receptor 75 461 integral to plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) ATGTCCAGCAGAGATCTTGGG 0.488000 16 134 0 0 0.132662 0 0 SETD2 29072 broad.mit.edu 37 3 47147603 47147603 + Missense_Mutation SNP A A T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:47147603A>T ENST00000409792.3 - 6 4765 c.4723T>A c.(4723-4725)Ttt>Att p.F1575I NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1575 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TCTAGGACAAAGGTGTTCCTG 0.363000 """N, F, S, Mis""" clear cell renal carcinoma 10 26 0 0 0.080935 0 0 OR2AT4 341152 broad.mit.edu 37 11 74800175 74800175 + Missense_Mutation SNP G G C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr11:74800175G>C ENST00000305159.3 - 1 624 c.584C>G c.(583-585)tCt>tGt p.S195C NM_001005285.1 NP_001005285.1 A6NND4 O2AT4_HUMAN olfactory receptor, family 2, subfamily AT, member 4 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 12 GGTGGTGTCAGAGCAGGAGGC 0.567000 3 34 0 0 0.009096 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18195639 18195639 + Missense_Mutation SNP G G C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr11:18195639G>C ENST00000314254.3 + 1 1256 c.836G>C c.(835-837)aGg>aCg p.R279T RP11-113D6.6_ENST00000527671.1_Intron NM_054032.3 NP_473373.2 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 279 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 GGCTCCTTTAGGCAGCGTCAA 0.488000 13 66 0 0 0.132662 0 0 DPP8 54878 broad.mit.edu 37 15 65793046 65793046 + Silent SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr15:65793046G>A ENST00000341861.5 - 4 2072 c.492C>T c.(490-492)gtC>gtT p.V164V DPP8_ENST00000559233.1_Silent_p.V164V|DPP8_ENST00000358939.4_Silent_p.V148V|DPP8_ENST00000339244.5_Silent_p.V164V|DPP8_ENST00000321147.6_Silent_p.V164V|DPP8_ENST00000300141.6_Silent_p.V148V|DPP8_ENST00000321118.7_Silent_p.V164V NM_197960.2 NP_932064.1 Q6V1X1 DPP8_HUMAN dipeptidyl-peptidase 8 164 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 AAGCAATTCCGACTGTTCCAA 0.398000 40 82 0 0 0.074837 0 0 GHSR 2693 broad.mit.edu 37 3 172165820 172165820 + Silent SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:172165820G>A ENST00000241256.2 - 1 426 c.384C>T c.(382-384)taC>taT p.Y128Y GHSR_ENST00000427970.1_Silent_p.Y128Y NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 128 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) GCACCGTGGCGTAGGTGCAGC 0.632000 8 19 0 0 0.038147 0 0 KIRREL 55243 broad.mit.edu 37 1 158047906 158047906 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:158047906C>T ENST00000368173.3 + 3 732 c.328C>T c.(328-330)Cgg>Tgg p.R110W KIRREL_ENST00000359209.6_Missense_Mutation_p.R110W|KIRREL_ENST00000416935.2_Intron|KIRREL_ENST00000360089.4_Missense_Mutation_p.R49W|KIRREL_ENST00000392272.2_Missense_Mutation_p.R110W NM_018240.5 NP_060710.3 Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 110 Ig-like C2-type 1. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) CCTGCGCTCTCGGCGGGCCAA 0.607000 9 117 0 0 0.058154 0 0 CUL5 8065 broad.mit.edu 37 11 107925516 107925516 + Missense_Mutation SNP A A T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr11:107925516A>T ENST00000393094.2 + 6 1312 c.696A>T c.(694-696)aaA>aaT p.K232N NM_003478.3 NP_003469.2 Q93034 CUL5_HUMAN cullin 5 232 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) ATTATATGAAATATGTAAGTT 0.323000 15 25 0 0 0.119110 0 0 USP9X 8239 broad.mit.edu 37 X 41075168 41075168 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:41075168G>A ENST00000324545.7 + 35 5981 c.5348G>A c.(5347-5349)cGc>cAc p.R1783H USP9X_ENST00000378308.2_Missense_Mutation_p.R1783H NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 1783 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 ACCGTAAAGCGCTTGCTGATT 0.318000 4 46 0 0 0.014758 0 0 TUSC5 286753 broad.mit.edu 37 17 1183494 1183494 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr17:1183494G>A ENST00000333813.3 + 1 538 c.199G>A c.(199-201)Gag>Aag p.E67K NM_172367.2 NP_758955.2 Q8IXB3 TUSC5_HUMAN tumor suppressor candidate 5 67 response to biotic stimulus integral to membrane endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GGCCATCTCCGAGGGGCACCT 0.632000 17 54 0 0 0.146539 0 0 TBC1D5 9779 broad.mit.edu 37 3 17226630 17226630 + Missense_Mutation SNP T T C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:17226630T>C ENST00000253692.7 - 19 3487 c.1823A>G c.(1822-1824)tAc>tGc p.Y608C TBC1D5_ENST00000429383.4_Missense_Mutation_p.Y608C|TBC1D5_ENST00000446818.2_Missense_Mutation_p.Y630C|TBC1D5_ENST00000429924.2_Missense_Mutation_p.Y582C|TBC1D5_ENST00000414318.2_5'UTR NM_014744.2 NP_055559.1 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 608 intracellular protein binding|Rab GTPase activator activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 CTTTGCACAGTATTTGCACAT 0.398000 18 50 0 0 0.069288 0 0 TRPM6 140803 broad.mit.edu 37 9 77370340 77370340 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr9:77370340G>A ENST00000451710.3 - 28 5072 c.4835C>T c.(4834-4836)cCa>cTa p.P1612L TRPM6_ENST00000376872.3_Missense_Mutation_p.P563L|TRPM6_ENST00000360774.1_Missense_Mutation_p.P1612L|TRPM6_ENST00000361255.3_Missense_Mutation_p.P1607L|TRPM6_ENST00000449912.2_Missense_Mutation_p.P1607L|TRPM6_ENST00000376864.4_Missense_Mutation_p.P1612L|TRPM6_ENST00000376871.3_Intron Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1612 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GTTTTCTCCTGGCTCTGGATT 0.423000 26 66 0 0 0.091800 0 0 ZNF419 79744 broad.mit.edu 37 19 58004287 58004287 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr19:58004287G>A ENST00000424930.2 + 5 594 c.365G>A c.(364-366)aGt>aAt p.S122N ZNF419_ENST00000442920.2_Missense_Mutation_p.S108N|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000221735.7_Missense_Mutation_p.S121N|ZNF419_ENST00000347466.6_Missense_Mutation_p.S89N|ZNF419_ENST00000415379.2_Missense_Mutation_p.S75N|ZNF419_ENST00000426954.2_Missense_Mutation_p.S109N|ZNF419_ENST00000354197.4_Missense_Mutation_p.S109N NM_001098491.1|NM_024691.3 NP_001091961.1|NP_078967.3 Q96HQ0 ZN419_HUMAN zinc finger protein 419 121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171) GGACTGCTCAGTTCAAACATT 0.473000 6 27 0 0 0.021553 0 0 UNC13A 23025 broad.mit.edu 37 19 17768990 17768990 + Silent SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr19:17768990C>T ENST00000428389.2 - 10 911 c.912G>A c.(910-912)acG>acA p.T304T UNC13A_ENST00000551649.1_Silent_p.T216T|UNC13A_ENST00000552293.1_Silent_p.T216T|UNC13A_ENST00000550896.1_Silent_p.T216T|UNC13A_ENST00000252773.7_Silent_p.T216T|UNC13A_ENST00000519716.2_Silent_p.T216T Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 216 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 TGGGTTGTGACGTAGTATAAT 0.557000 3 31 0 0 0.009096 0 0 ZDHHC16 84287 broad.mit.edu 37 10 99211482 99211482 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr10:99211482G>A ENST00000393760.1 + 3 399 c.50G>A c.(49-51)cGc>cAc p.R17H ZDHHC16_ENST00000352634.4_Missense_Mutation_p.R17H|ZDHHC16_ENST00000370846.4_Missense_Mutation_p.R17H|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.R17H|ZDHHC16_ENST00000353979.3_Missense_Mutation_p.R17H|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.R17H|ZDHHC16_ENST00000370854.3_Missense_Mutation_p.R17H NM_198046.1 NP_932163.1 Q969W1 ZDH16_HUMAN zinc finger, DHHC-type containing 16 17 apoptosis endoplasmic reticulum membrane|integral to membrane acyltransferase activity|zinc ion binding kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 14 Colorectal(252;0.0846) Epithelial(162;5.81e-10)|all cancers(201;4.19e-08) CTCTGCCTCCGCCTCCTTCTG 0.667000 16 23 0 0 0.038395 0 0 BMP6 654 broad.mit.edu 37 6 7727808 7727808 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr6:7727808C>T ENST00000283147.6 + 1 779 c.620C>T c.(619-621)gCc>gTc p.A207V NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 207 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) CAGGACAGCGCCTTCCTCAAC 0.647000 5 14 0 0 0.029380 0 0 SORCS3 22986 broad.mit.edu 37 10 106976783 106976783 + Missense_Mutation SNP C C G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr10:106976783C>G ENST00000369701.3 + 19 2864 c.2637C>G c.(2635-2637)atC>atG p.I879M SORCS3_ENST00000369699.4_Missense_Mutation_p.I165M NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 879 PKD. integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AGGACGGCATCAAGCACGTGT 0.517000 13 35 0 0 0.105934 0 0 CSMD3 114788 broad.mit.edu 37 8 113353856 113353856 + Nonsense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr8:113353856G>A ENST00000297405.5 - 42 6746 c.6502C>T c.(6502-6504)Cga>Tga p.R2168* CSMD3_ENST00000352409.3_Nonsense_Mutation_p.R2098*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.R2064*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.R2128* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2168 CUB 12. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GATCCACTTCGTACTTCCAAA 0.368000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 13 18 0 0 0.105934 0 0 PCDHA9 9752 broad.mit.edu 37 5 140230437 140230437 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr5:140230437C>T ENST00000378122.3 + 1 3081 c.2357C>T c.(2356-2358)aCg>aTg p.T786M PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.T786M|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAGAGCGAACGGGAGAACCC 0.463000 17 53 0 0 0.033300 0 0 GDA 9615 broad.mit.edu 37 9 74838108 74838108 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr9:74838108G>A ENST00000358399.3 + 7 772 c.679G>A c.(679-681)Ggc>Agc p.G227S GDA_ENST00000376986.1_Intron|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376989.3_Intron|GDA_ENST00000545168.1_Missense_Mutation_p.G153S|GDA_ENST00000238018.4_Missense_Mutation_p.G227S NM_001242505.2|NM_001242506.2|NM_004293.4 NP_001229434.1|NP_001229435.1|NP_004284.1 Q9Y2T3 GUAD_HUMAN guanine deaminase 227 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) GGGTGAACTGGGCAACATTGC 0.428000 15 63 0 0 0.038395 0 0 OR10X1 128367 broad.mit.edu 37 1 158549570 158549570 + Silent SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:158549570C>T ENST00000368150.1 - 1 119 c.120G>A c.(118-120)caG>caA p.Q40Q NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) AAAGAAATGTCTGTACATGTG 0.423000 6 78 0 0 0.021553 0 0 TTN 7273 broad.mit.edu 37 2 179584490 179584490 + Missense_Mutation SNP C C A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr2:179584490C>A ENST00000589042.1 - 82 23953 c.23729G>T c.(23728-23730)tGt>tTt p.C7910F TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.C6666F|TTN_ENST00000591111.1_Missense_Mutation_p.C7593F|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7593 Ig-like 61. 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) AGTCACTACACACTCTAATGC 0.398000 4 54 0.00024832 0.000255031 0.009096 1 0 NPAS3 64067 broad.mit.edu 37 14 34263139 34263139 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr14:34263139G>A ENST00000346562.2 + 9 1168 c.1094G>A c.(1093-1095)cGc>cAc p.R365H NPAS3_ENST00000551492.1_Missense_Mutation_p.R402H|NPAS3_ENST00000548645.1_Missense_Mutation_p.R367H|NPAS3_ENST00000357798.5_Missense_Mutation_p.R384H|NPAS3_ENST00000356141.4_Missense_Mutation_p.R397H NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 397 PAC.|PAS 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) AAGTACTATCGCTGGATGCAG 0.373000 10 47 0 0 0.069234 0 0 MYCBP2 23077 broad.mit.edu 37 13 77651324 77651324 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr13:77651324C>T ENST00000407578.2 - 67 11949 c.11683G>A c.(11683-11685)Gaa>Aaa p.E3895K MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000596342.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.E3857K|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E3857K NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 3857 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GTCTCAGCTTCACAGTTCCTC 0.433000 14 33 0 0 0.132662 0 0 SLC7A10 56301 broad.mit.edu 37 19 33702376 33702376 + Missense_Mutation SNP C C A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr19:33702376C>A ENST00000253188.3 - 6 1002 c.856G>T c.(856-858)Gcc>Tcc p.A286S NM_019849.2 NP_062823.1 Q9NS82 AAA1_HUMAN solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 286 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 18 Esophageal squamous(110;0.137) GTGAAGTAGGCAATGTTGGTG 0.627000 5 20 0.000602214 0.000611876 0.014758 1 0 RLBP1 6017 broad.mit.edu 37 15 89754989 89754989 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr15:89754989C>T ENST00000268125.5 - 7 1108 c.669G>A c.(667-669)atG>atA p.M223I NM_000326.4 NP_000317.1 P12271 RLBP1_HUMAN retinaldehyde binding protein 1 223 CRAL-TRIO. response to stimulus|visual perception|vitamin A metabolic process cytoplasm|soluble fraction retinol binding|transporter activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1) 18 Lung NSC(78;0.0472)|all_lung(78;0.089) Vitamin A(DB00162) GCATGTCCACCATCTTCCTGA 0.547000 3 40 0 0 0.014758 0 0 EPHA3 2042 broad.mit.edu 37 3 89468369 89468369 + Missense_Mutation SNP G G T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:89468369G>T ENST00000336596.2 + 11 2128 c.1903G>T c.(1903-1905)Gtg>Ttg p.V635L EPHA3_ENST00000494014.1_Missense_Mutation_p.V635L NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 635 Protein kinase. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) ATTTGGAGAGGTGTGCAGTGG 0.363000 TSP Lung(6;0.00050) 25 41 7.92952e-12 8.81058e-12 0.091800 1 0 COPS7A 50813 broad.mit.edu 37 12 6839587 6839587 + Missense_Mutation SNP G G A rs144125600 TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr12:6839587G>A ENST00000543155.1 + 6 1032 c.550G>A c.(550-552)Gtg>Atg p.V184M COPS7A_ENST00000542150.1_3'UTR|COPS7A_ENST00000229251.3_Missense_Mutation_p.V184M|COPS7A_ENST00000534947.1_Missense_Mutation_p.V184M|COPS7A_ENST00000534877.1_Missense_Mutation_p.V184M|COPS7A_ENST00000538410.1_Missense_Mutation_p.V184M|COPS7A_ENST00000539735.1_Missense_Mutation_p.V184M NM_001164094.1 NP_001157566.1 Q9UBW8 CSN7A_HUMAN COP9 signalosome subunit 7A 184 cullin deneddylation cytoplasm|signalosome endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1) 10 CTGTGAGGTCGTGCTGTCAGG 0.567000 4 73 0 0 0.009096 0 0 SUN1 23353 broad.mit.edu 37 7 883126 883126 + Silent SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr7:883126G>A ENST00000456758.2 + 8 801 c.801G>A c.(799-801)tcG>tcA p.S267S SUN1_ENST00000389574.3_Silent_p.S159S|SUN1_ENST00000403868.1_Silent_p.S209S|SUN1_ENST00000405266.1_Silent_p.S209S|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000425407.2_Silent_p.S159S|SUN1_ENST00000401592.1_Silent_p.S209S|SUN1_ENST00000457378.2_Silent_p.S230S O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 209 EMD-binding.|SYNE2-binding. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding p.S159S(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GGCCCGTGTCGAGAGTTTATT 0.522000 47 144 0 0 0.139131 0 0 MAP7D3 79649 broad.mit.edu 37 X 135313731 135313731 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:135313731G>A ENST00000316077.9 - 8 1605 c.1385C>T c.(1384-1386)cCc>cTc p.P462L MAP7D3_ENST00000370661.1_Missense_Mutation_p.P427L|MAP7D3_ENST00000370663.5_Missense_Mutation_p.P444L NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 462 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) TTTTGCCTTGGGAGATGCTTC 0.448000 34 90 0 0 0.069456 0 0 HUWE1 10075 broad.mit.edu 37 X 53577938 53577938 + Silent SNP C C A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:53577938C>A ENST00000342160.3 - 64 9766 c.9309G>T c.(9307-9309)cgG>cgT p.R3103R HUWE1_ENST00000262854.6_Silent_p.R3103R Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 3103 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 GCTGTCGCTGCCGGGCTTCTT 0.582000 12 41 1.08611e-07 1.16588e-07 0.080935 1 0 MYO1C 4641 broad.mit.edu 37 17 1387576 1387576 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr17:1387576G>A ENST00000359786.5 - 2 421 c.97C>T c.(97-99)Cgg>Tgg p.R33W MYO1C_ENST00000575158.1_5'UTR|MYO1C_ENST00000438665.2_Missense_Mutation_p.R14W|MYO1C_ENST00000361007.2_5'UTR|MYO1C_ENST00000545534.2_Missense_Mutation_p.R9W NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC 33 mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) ATGGTCACCCGAACCCCGTCA 0.652000 6 24 0 0 0.021553 0 0 IQSEC2 23096 broad.mit.edu 37 X 53279948 53279948 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:53279948C>T ENST00000396435.3 - 5 2010 c.1810G>A c.(1810-1812)Gtg>Atg p.V604M IQSEC2_ENST00000375365.2_Missense_Mutation_p.V399M|IQSEC2_ENST00000375368.5_Missense_Mutation_p.V594M NM_001111125.2 NP_001104595.1 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 594 Pro-rich. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29 CTCAGGTCCACGGAGCTGTCA 0.657000 7 11 0 0 0.029380 0 0 DIS3 22894 broad.mit.edu 37 13 73349468 73349468 + Missense_Mutation SNP C C G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr13:73349468C>G ENST00000377767.4 - 6 968 c.868G>C c.(868-870)Gat>Cat p.D290H DIS3_ENST00000377780.4_Missense_Mutation_p.D260H|DIS3_ENST00000545453.1_Missense_Mutation_p.D128H NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 290 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) GCCACAATATCTTCGTGAACA 0.388000 Multiple Myeloma(4;0.011) 18 65 0 0 0.049695 0 0 FAM47A 158724 broad.mit.edu 37 X 34149053 34149053 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:34149053C>T ENST00000346193.3 - 1 1394 c.1343G>A c.(1342-1344)cGg>cAg p.R448Q NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 448 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TTTCTTCACCCGGGCCTCACA 0.562000 7 59 0 0 0.038147 0 0 PLCL2 23228 broad.mit.edu 37 3 17056295 17056295 + Silent SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:17056295C>T ENST00000418129.2 + 3 2997 c.2532C>T c.(2530-2532)ccC>ccT p.P844P PLCL2_ENST00000396755.2_Silent_p.P844P|PLCL2_ENST00000432376.1_Silent_p.P844P NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 970 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 TTCTGGGGCCCGATAACACAC 0.542000 43 115 0 0 0.104719 0 0 PPP1R3F 89801 broad.mit.edu 37 X 49127007 49127007 + Silent SNP T T A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:49127007T>A ENST00000055335.6 + 1 691 c.675T>A c.(673-675)ggT>ggA p.G225G PPP1R3F_ENST00000438316.1_Intron|PPP1R3F_ENST00000466508.1_Intron|PPP1R3F_ENST00000495799.1_Intron NM_033215.4 NP_149992.3 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory subunit 3F 225 CBM21. integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4) 27 Ovarian(276;0.236) TCGGCCTGGGTCCCGGCCAGG 0.751000 7 13 0 0 0.029380 0 0 PLXNA4 91584 broad.mit.edu 37 7 131849918 131849918 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr7:131849918G>A ENST00000359827.3 - 23 5290 c.4328C>T c.(4327-4329)aCt>aTt p.T1443I PLXNA4_ENST00000321063.4_Missense_Mutation_p.T1443I Q9HCM2 PLXA4_HUMAN plexin A4 1443 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GAGGAGGAAAGTAAACCAATT 0.517000 19 47 0 0 0.069288 0 0 RYR3 6263 broad.mit.edu 37 15 33962690 33962690 + Silent SNP T T G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr15:33962690T>G ENST00000389232.4 + 38 5863 c.5793T>G c.(5791-5793)gtT>gtG p.V1931V RYR3_ENST00000415757.3_Silent_p.V1931V NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1931 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GTGCCTTGGTTTACAAAATCA 0.522000 10 35 0 0 0.069234 0 0 CADM2 253559 broad.mit.edu 37 3 85932554 85932554 + Missense_Mutation SNP A A T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:85932554A>T ENST00000383699.3 + 4 979 c.352A>T c.(352-354)Atg>Ttg p.M118L CADM2_ENST00000405615.2_Missense_Mutation_p.M111L|CADM2_ENST00000407528.2_Missense_Mutation_p.M109L NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 109 Ig-like V-type. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) TTTATTTACAATGCCTGTCAA 0.428000 13 22 0 0 0.105934 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110412468 110412468 + Silent SNP T T C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr8:110412468T>C ENST00000378402.5 + 13 1280 c.1176T>C c.(1174-1176)ttT>ttC p.F392F NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 392 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTGCACGCTTTAGTGGATTTT 0.418000 HNSCC(38;0.096) 23 228 0 0 0.099896 0 0 OR6C65 403282 broad.mit.edu 37 12 55794794 55794794 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr12:55794794G>A ENST00000379665.2 + 1 581 c.482G>A c.(481-483)gGc>gAc p.G161D NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 GTGATTATGGGCCTCCAACTG 0.433000 75 163 0 0 0.139131 0 0 MEF2C 4208 broad.mit.edu 37 5 88027717 88027717 + Splice_Site SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr5:88027717C>T ENST00000504921.2 - 7 1311 c.637_splice c.e7-1 p.G213_splice MEF2C_ENST00000514028.1_Splice_Site_p.G213_splice|MEF2C_ENST00000539796.1_Splice_Site_p.G165_splice|MEF2C_ENST00000437473.2_Splice_Site_p.G213_splice|MEF2C_ENST00000510942.1_Splice_Site_p.G213_splice|MEF2C_ENST00000506554.1_Splice_Site_p.G213_splice|MEF2C_ENST00000424173.2_Splice_Site_p.G211_splice|MEF2C_ENST00000508569.1_Splice_Site_p.G213_splice|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000514015.1_Splice_Site_p.G213_splice|MEF2C_ENST00000340208.5_Splice_Site_p.G231_splice Q06413 MEF2C_HUMAN myocyte enhancer factor 2C 213 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 40 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) CATACCCGTTCCCTGTTAACA 0.388000 HNSCC(66;0.2) 6 11 0 0 0.029380 0 0 HS3ST5 222537 broad.mit.edu 37 6 114378489 114378489 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr6:114378489G>A ENST00000312719.5 - 5 2161 c.973C>T c.(973-975)Cgc>Tgc p.R325C RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.R325C|RP3-399L15.3_ENST00000519270.1_RNA Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 5 325 heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 41 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) AAGAATTTGCGCAATTTAGTA 0.408000 23 44 0 0 0.083992 0 0 LTBP1 4052 broad.mit.edu 37 2 33413884 33413884 + Missense_Mutation SNP T T C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr2:33413884T>C ENST00000404816.2 + 7 2020 c.1667T>C c.(1666-1668)cTt>cCt p.L556P LTBP1_ENST00000407925.1_Missense_Mutation_p.L230P|LTBP1_ENST00000390003.4_Missense_Mutation_p.L230P|LTBP1_ENST00000354476.3_Missense_Mutation_p.L556P|LTBP1_ENST00000404525.1_Missense_Mutation_p.L230P|LTBP1_ENST00000402934.1_Missense_Mutation_p.L230P|LTBP1_ENST00000418533.2_Missense_Mutation_p.L230P Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 556 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) AAGACACAGCTTGGCCGGTGC 0.498000 36 80 0 0 0.086207 0 0 MAGEB3 4114 broad.mit.edu 37 X 30254629 30254629 + Missense_Mutation SNP G G T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:30254629G>T ENST00000361644.2 + 5 1325 c.588G>T c.(586-588)agG>agT p.R196S MAGEB3_ENST00000378986.1_Missense_Mutation_p.R196S NM_002365.4 NP_002356.2 O15480 MAGB3_HUMAN melanoma antigen family B, 3 196 MAGE. NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 25 CTCGTGGGAGGGGATTTCCCA 0.468000 12 35 6.40141e-05 6.68279e-05 0.080935 1 0 EIF3H 8667 broad.mit.edu 37 8 117658786 117658786 + Silent SNP C C A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr8:117658786C>A ENST00000521861.1 - 7 908 c.885G>T c.(883-885)ccG>ccT p.P295P EIF3H_ENST00000276682.4_Silent_p.P309P NM_003756.2 NP_003747.1 O15372 EIF3H_HUMAN eukaryotic translation initiation factor 3, subunit H 295 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity large_intestine(2)|lung(10)|skin(1) 13 all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172) CCTCAGGGAGCGGGGGTTCTC 0.527000 44 131 2.47872e-24 2.82011e-24 0.117977 1 0 ALOX5 240 broad.mit.edu 37 10 45941026 45941026 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr10:45941026G>A ENST00000374391.2 + 14 1969 c.1916G>A c.(1915-1917)cGc>cAc p.R639H RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Missense_Mutation_p.R582H NM_000698.3|NM_001256153.1 NP_000689.1|NP_001243082.1 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 639 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) GCCCGATTCCGCAAGAACCTC 0.532000 7 52 0 0 0.029380 0 0 ASIC4 55515 broad.mit.edu 37 2 220397137 220397137 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr2:220397137G>A ENST00000358078.4 + 4 1351 c.1337G>A c.(1336-1338)cGg>cAg p.R446Q ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000347842.3_Missense_Mutation_p.R446Q Q96FT7 ACCN4_HUMAN acid-sensing (proton-gated) ion channel family member 4 446 integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity TCTGCCTGCCGGCTGCGCTGT 0.677000 15 24 0 0 0.146539 0 0 ZNF479 90827 broad.mit.edu 37 7 57188354 57188354 + Silent SNP A A G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr7:57188354A>G ENST00000331162.4 - 5 1038 c.768T>C c.(766-768)ctT>ctC p.L256L NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 256 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) TATGTCTAGTAAGGTTTGCAG 0.428000 6 32 0 0 0.080935 0 0 ZNF883 169834 broad.mit.edu 37 9 115760171 115760171 + RNA SNP T T G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr9:115760171T>G ENST00000427548.1 - 0 1642 P0CG24 ZN883_HUMAN zinc finger protein 883 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding AAGGATAGGGTTTTTCTCCAG 0.378000 3 45 0 0 0.115264 0 0 S1PR4 8698 broad.mit.edu 37 19 3179595 3179595 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr19:3179595G>A ENST00000246115.3 + 1 860 c.805G>A c.(805-807)Ggg>Agg p.G269R NM_003775.3 NP_003766.1 O95977 S1PR4_HUMAN sphingosine-1-phosphate receptor 4 269 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 CCCACTCTTCGGGCTGCTGCT 0.697000 31 56 0 0 0.045705 0 0 FBXO10 26267 broad.mit.edu 37 9 37518327 37518327 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr9:37518327C>T ENST00000432825.2 - 9 2357 c.2309G>A c.(2308-2310)cGa>cAa p.R770Q FBXO10_ENST00000541829.1_Missense_Mutation_p.R295Q|RP11-613M10.8_ENST00000544475.1_5'UTR NM_012166.2 NP_036298.2 Q9UK96 FBX10_HUMAN F-box protein 10 770 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) GTTGGCCACTCGGGTGGGTTG 0.567000 14 26 0 0 0.132662 0 0 CEP350 9857 broad.mit.edu 37 1 180080243 180080243 + Missense_Mutation SNP A A G rs150197968 TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:180080243A>G ENST00000367607.3 + 38 9719 c.9301A>G c.(9301-9303)Att>Gtt p.I3101V CEP350_ENST00000490141.1_3'UTR NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 3101 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 CAAAGATACTATTGATGTTCT 0.463000 15 29 0 0 0.119110 0 0 STAG2 10735 broad.mit.edu 37 X 123196817 123196817 + Silent SNP C C A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:123196817C>A ENST00000371160.1 + 18 1994 c.1704C>A c.(1702-1704)gcC>gcA p.A568A STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.A568A|STAG2_ENST00000371144.3_Silent_p.A568A|STAG2_ENST00000371157.3_Silent_p.A568A|STAG2_ENST00000354548.5_Silent_p.A499A|STAG2_ENST00000371145.3_Silent_p.A568A Q8N3U4 STAG2_HUMAN stromal antigen 2 568 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 AGCTTTTTGCCGTGGCCCTTC 0.358000 16 44 1.67942e-08 1.81301e-08 0.038395 1 0 PKD1L1 168507 broad.mit.edu 37 7 47944031 47944031 + Missense_Mutation SNP G G T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr7:47944031G>T ENST00000289672.2 - 12 1925 c.1875C>A c.(1873-1875)gaC>gaA p.D625E NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 625 PKD 2. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CATCCCCAAAGTCCCACAGGT 0.602000 13 25 2.27111e-07 2.41068e-07 0.093190 1 0 AHNAK2 113146 broad.mit.edu 37 14 105409647 105409647 + Silent SNP G G C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr14:105409647G>C ENST00000333244.5 - 7 12260 c.12141C>G c.(12139-12141)ctC>ctG p.L4047L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4047 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGTGCCCTTTGAGGCTGGCTC 0.627000 9 200 0 0 0.047766 0 0 ADPGK 83440 broad.mit.edu 37 15 73048712 73048712 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr15:73048712C>T ENST00000311669.8 - 5 813 c.720G>A c.(718-720)atG>atA p.M240I ADPGK_ENST00000567733.1_Intron NM_031284.4 NP_112574.3 Q9BRR6 ADPGK_HUMAN ADP-dependent glucokinase 240 ADPK. glycolysis extracellular region ADP-specific glucokinase activity|metal ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1) 7 CCAGCATATTCATGGCCCCGT 0.537000 5 63 0 0 0.021553 0 0 DLGAP2 9228 broad.mit.edu 37 8 1626408 1626408 + Missense_Mutation SNP G G A rs34274599 TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr8:1626408G>A ENST00000421627.2 + 9 2211 c.2077G>A c.(2077-2079)Gtc>Atc p.V693I NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 772 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) TTCTAACAGCGTCACGGCCGC 0.557000 18 36 0 0 0.049695 0 0 GIMAP2 26157 broad.mit.edu 37 7 150389491 150389491 + Silent SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr7:150389491G>A ENST00000223293.5 + 3 211 c.117G>A c.(115-117)ggG>ggA p.G39G NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 39 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTGCTGCAGGGAACAGCATCC 0.512000 7 23 0 0 0.029380 0 0 TMEM184C 55751 broad.mit.edu 37 4 148554974 148554974 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr4:148554974C>T ENST00000296582.3 + 9 1512 c.938C>T c.(937-939)tCa>tTa p.S313L TMEM184C_ENST00000508208.1_Intron NM_018241.2 NP_060711.2 Q9NVA4 T184C_HUMAN transmembrane protein 184C 313 integral to membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1) 16 TACACATTCTCATATAAACCA 0.368000 4 83 0 0 0.014758 0 0 PLXNB1 5364 broad.mit.edu 37 3 48460693 48460693 + Missense_Mutation SNP C C G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:48460693C>G ENST00000358536.4 - 12 3061 c.2792G>C c.(2791-2793)cGg>cCg p.R931P PLXNB1_ENST00000358459.4_Missense_Mutation_p.R748P|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R748P|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R931P NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 931 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCGGATTTCCCGCTCCACATG 0.612000 9 12 0 0 0.069234 0 0 HIST1H1C 3006 broad.mit.edu 37 6 26056394 26056394 + Missense_Mutation SNP A A C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr6:26056394A>C ENST00000343677.2 - 1 305 c.263T>G c.(262-264)gTg>gGg p.V88G NM_005319.3 NP_005310.1 P16403 H12_HUMAN histone cluster 1, H1c 88 H15. nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 34 GCCCTTGCTCACCAGGCTCTT 0.532000 14 94 0 0 0.105934 0 0 ZCWPW2 152098 broad.mit.edu 37 3 28557085 28557085 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:28557085G>A ENST00000383768.2 + 8 945 c.757G>A c.(757-759)Gat>Aat p.D253N ZCWPW2_ENST00000421010.1_Missense_Mutation_p.D253N Q504Y3 ZCPW2_HUMAN zinc finger, CW type with PWWP domain 2 253 zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2) 17 TGTTTATTCTGATGATGCCTT 0.308000 7 20 0 0 0.029380 0 0 PCDHA12 56137 broad.mit.edu 37 5 140257232 140257232 + Silent SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr5:140257232G>A ENST00000398631.2 + 1 2175 c.2175G>A c.(2173-2175)gcG>gcA p.A725A PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTGCTCAGCGCCGCCCACCG 0.647000 4 26 0 0 0.009096 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12885289 12885289 + Silent SNP G G T rs148273194 by1000genomes TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:12885289G>T ENST00000535591.1 - 4 1017 c.822C>A c.(820-822)ctC>ctA p.L274L NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 274 p.L274L(3) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GGCACTGGGAGAGATGCTTCA 0.458000 7 175 0.00448238 0.00453007 0.047766 1 0 FCAMR 83953 broad.mit.edu 37 1 207135705 207135705 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:207135705G>A ENST00000324852.4 - 5 979 c.505C>T c.(505-507)Cgt>Tgt p.R169C FCAMR_ENST00000450945.2_Missense_Mutation_p.R169C|FCAMR_ENST00000400962.3_Missense_Mutation_p.R169C NM_001170631.1 NP_001164102.1 Q8WWV6 FCAMR_HUMAN Fc receptor, IgA, IgM, high affinity 124 Ig-like V-type. integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1) 11 AGGGCCACACGGTCACGATAG 0.572000 28 41 0 0 0.125774 0 0 WAPAL 23063 broad.mit.edu 37 10 88232379 88232379 + Missense_Mutation SNP T T A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr10:88232379T>A ENST00000298767.5 - 6 2355 c.1883A>T c.(1882-1884)gAa>gTa p.E628V NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) 628 Mediates interaction with the cohesin complex.|WAPL. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 TTCTTTGTCTTCTCGTCTGCA 0.358000 9 35 0 0 0.069234 0 0 FMO1 2326 broad.mit.edu 37 1 171250015 171250015 + Missense_Mutation SNP C C G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:171250015C>G ENST00000354841.4 + 5 849 c.718C>G c.(718-720)Cag>Gag p.Q240E FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.Q240E|FMO1_ENST00000402921.2_Missense_Mutation_p.Q177E Q01740 FMO1_HUMAN flavin containing monooxygenase 1 240 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GACACGCTTTCAGAACATGTT 0.493000 7 68 0 0 0.029380 0 0 ARL13A 392509 broad.mit.edu 37 X 100240718 100240718 + Missense_Mutation SNP T T C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:100240718T>C ENST00000450049.2 + 4 306 c.193T>C c.(193-195)Tat>Cat p.Y65H NM_001162491.1 NP_001155963.1 Q5H913 AR13A_HUMAN ADP-ribosylation factor-like 13A 65 GTP binding endometrium(1)|ovary(1) 2 GTTAGATGAGTATGAACTTTC 0.463000 3 47 0 0 0.115264 0 0 HACE1 57531 broad.mit.edu 37 6 105233004 105233004 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr6:105233004C>T ENST00000262903.4 - 12 1541 c.1265G>A c.(1264-1266)gGc>gAc p.G422D HACE1_ENST00000369125.2_Missense_Mutation_p.G422D NM_020771.3 NP_065822.2 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 422 protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 44 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) TTCCCTTGTGCCAGTGGACAG 0.458000 3 46 0 0 0.115264 0 0 SVEP1 79987 broad.mit.edu 37 9 113170974 113170974 + Nonsense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr9:113170974C>T ENST00000401783.2 - 38 7242 c.6906G>A c.(6904-6906)tgG>tgA p.W2302* SVEP1_ENST00000297826.5_Nonsense_Mutation_p.W228*|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.W2279* NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2302 Sushi 15. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TCTGACATGTCCAAGAACTGT 0.443000 17 59 0 0 0.049695 0 0 CIR1 9541 broad.mit.edu 37 2 175252492 175252492 + Nonsense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr2:175252492G>A ENST00000342016.3 - 2 180 c.88C>T c.(88-90)Cag>Tag p.Q30* CIR1_ENST00000362053.5_Nonsense_Mutation_p.Q30* NM_004882.3 NP_004873.3 Q86X95 CIR1_HUMAN corepressor interacting with RBPJ, 1 30 Interaction with RBPJ. mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1) 15 GATATTTTCTGTTCTGCCATC 0.254000 11 42 0 0 0.069234 0 0 CTNNA3 29119 broad.mit.edu 37 10 67829147 67829147 + Missense_Mutation SNP A A T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr10:67829147A>T ENST00000433211.1 - 15 2252 c.2078T>A c.(2077-2079)aTa>aAa p.I693K CTNNA3_ENST00000373744.4_Missense_Mutation_p.I693K|CTNNA3_ENST00000373735.1_Missense_Mutation_p.I32K NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 693 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 ATCATCCCATATCTCAATCTC 0.403000 35 91 0 0 0.059317 0 0 APOL2 23780 broad.mit.edu 37 22 36623928 36623928 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr22:36623928G>A ENST00000249066.6 - 6 1012 c.536C>T c.(535-537)gCc>gTc p.A179V APOL2_ENST00000451256.2_Missense_Mutation_p.A291V|APOL2_ENST00000358502.5_Missense_Mutation_p.A179V NM_145637.1 NP_663612.1 Q9BQE5 APOL2_HUMAN apolipoprotein L, 2 179 acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development endoplasmic reticulum membrane|extracellular region high-density lipoprotein particle binding|lipid binding|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2) 9 GCGGGCTTGGGCTCGTGCCCG 0.517000 16 37 0 0 0.132662 0 0 RGS12 6002 broad.mit.edu 37 4 3318626 3318626 + Silent SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr4:3318626G>A ENST00000336727.3 + 2 1633 c.729G>A c.(727-729)acG>acA p.T243T RGS12_ENST00000543385.1_Silent_p.T243T|RGS12_ENST00000382788.3_Silent_p.T243T|RGS12_ENST00000344733.5_Silent_p.T243T NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 243 PID. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TTCCTTCCACGAGCTCCAACC 0.532000 13 46 0 0 0.093190 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110535536 110535536 + Silent SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr8:110535536C>T ENST00000378402.5 + 76 12509 c.12405C>T c.(12403-12405)gtC>gtT p.V4135V NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 4135 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATAACCAAGTCAATGGCCTTA 0.398000 HNSCC(38;0.096) 18 48 0 0 0.033300 0 0 OR5D13 390142 broad.mit.edu 37 11 55541352 55541352 + Missense_Mutation SNP G G T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr11:55541352G>T ENST00000361760.1 + 1 439 c.439G>T c.(439-441)Gtg>Ttg p.V147L NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TGCTCTTCTGGTGGCTGGGTC 0.403000 15 137 1.99824e-07 2.13295e-07 0.033300 1 0 DFNA5 1687 broad.mit.edu 37 7 24756873 24756873 + Splice_Site SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr7:24756873C>T ENST00000545231.1 - 7 1355 c.205_splice c.e7+1 p.E69_splice DFNA5_ENST00000409970.1_Splice_Site_p.E69_splice|DFNA5_ENST00000419307.1_Splice_Site_p.E69_splice|DFNA5_ENST00000409775.3_Splice_Site_p.E233_splice|DFNA5_ENST00000342947.3_Splice_Site_p.E233_splice|DFNA5_ENST00000559637.1_5'UTR O60443 DFNA5_HUMAN deafness, autosomal dominant 5 233 sensory perception of sound endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 TGGCACTCACCGAACTGGCCG 0.562000 10 35 0 0 0.058154 0 0 FAT1 2195 broad.mit.edu 37 4 187525008 187525008 + Nonsense_Mutation SNP C C A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr4:187525008C>A ENST00000441802.2 - 19 10881 c.10672G>T c.(10672-10674)Gaa>Taa p.E3558* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3558 Cadherin 33. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CCTGAGTATTCTTCTCCAGAA 0.473000 HNSCC(5;0.00058) 7 28 8.12818e-05 8.4391e-05 0.029380 1 0 TCP11L1 55346 broad.mit.edu 37 11 33083210 33083210 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr11:33083210G>A ENST00000334274.4 + 7 1310 c.910G>A c.(910-912)Gtc>Atc p.V304I TCP11L1_ENST00000531632.2_Missense_Mutation_p.V304I|TCP11L1_ENST00000432887.1_Missense_Mutation_p.V304I|TCP11L1_ENST00000324357.9_Missense_Mutation_p.V83I NM_018393.3 NP_060863.3 Q9NUJ3 T11L1_HUMAN t-complex 11, testis-specific-like 1 304 kidney(1)|liver(2)|lung(2)|skin(1) 6 CCCTGTTGCTGTCCAGAATTA 0.547000 5 17 0 0 0.014758 0 0 CPQ 10404 broad.mit.edu 37 8 97892096 97892096 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr8:97892096G>A ENST00000220763.5 + 4 922 c.712G>A c.(712-714)Gat>Aat p.D238N NM_016134.2 NP_057218.1 Q9Y646 PGCP_HUMAN carboxypeptidase Q 238 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity TACGGTGGAAGATGCAGAAAT 0.463000 5 134 0 0 0.014758 0 0 PRTG 283659 broad.mit.edu 37 15 55931991 55931991 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr15:55931991G>A ENST00000389286.4 - 13 2220 c.2173C>T c.(2173-2175)Ccc>Tcc p.P725S NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 725 Fibronectin type-III 4. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) AGATGGTGGGGTGGTGGTGGA 0.448000 6 63 0 0 0.038147 0 0 COX5B 1329 broad.mit.edu 37 2 98264531 98264531 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr2:98264531G>A ENST00000258424.2 + 4 397 c.350G>A c.(349-351)gGa>gAa p.G117E COX5B_ENST00000464949.1_3'UTR NM_001862.2 NP_001853.2 P10606 COX5B_HUMAN cytochrome c oxidase subunit Vb 117 respiratory electron transport chain|respiratory gaseous exchange mitochondrial inner membrane cytochrome-c oxidase activity|metal ion binding endometrium(1)|lung(1)|urinary_tract(1) 3 CCCCGCTGTGGAGCCCATTAC 0.502000 3 30 0 0 0.115264 0 0 CREBBP 1387 broad.mit.edu 37 16 3820572 3820572 + Splice_Site SNP G G C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr16:3820572G>C ENST00000262367.5 - 14 3688 c.2880_splice c.e14+1 p.P960_splice CREBBP_ENST00000382070.3_Splice_Site_p.P922_splice NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 960 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GAGGCTTACCGGTGTGCCAGG 0.572000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 54 221 0 0 0.139131 0 0 ITPR2 3709 broad.mit.edu 37 12 26493141 26493141 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr12:26493141C>T ENST00000381340.3 - 56 8394 c.7978G>A c.(7978-7980)Gtc>Atc p.V2660I RP11-513G19.1_ENST00000535324.1_RNA NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2660 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) AGCTGTTTGACCAGACTCATG 0.547000 18 35 0 0 0.043863 0 0 TCF21 6943 broad.mit.edu 37 6 134210907 134210907 + Silent SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr6:134210907G>A ENST00000367882.4 + 1 632 c.372G>A c.(370-372)gcG>gcA p.A124A TCF21_ENST00000237316.3_Silent_p.A124A|RP3-323P13.2_ENST00000607573.1_RNA NM_003206.3 NP_003197.2 O43680 TCF21_HUMAN transcription factor 21 124 Helix-loop-helix motif. branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 13 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) TCAGGCTGGCGTCCAGCTACA 0.617000 32 94 0 0 0.045705 0 0 KCNIP1 30820 broad.mit.edu 37 5 170148874 170148874 + Silent SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr5:170148874C>T ENST00000328939.4 + 4 831 c.294C>T c.(292-294)ttC>ttT p.F98F KCNIP1_ENST00000390656.4_Silent_p.F98F|KCNIP1_ENST00000434108.1_Silent_p.F123F|KCNIP1_ENST00000377360.4_Silent_p.F107F|KCNIP1_ENST00000520740.1_Silent_p.F70F|KCNIP1_ENST00000411494.1_Silent_p.F109F NM_001034837.1|NM_014592.2 NP_001030009.1|NP_055407.1 Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 109 EF-hand 2. detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity p.F109F(1) autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 18 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCAATGCCTTCGACACCACTC 0.547000 51 96 0 0 0.139131 0 0 SVEP1 79987 broad.mit.edu 37 9 113139598 113139598 + Missense_Mutation SNP T T A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr9:113139598T>A ENST00000401783.2 - 45 10793 c.10457A>T c.(10456-10458)aAt>aTt p.N3486I SVEP1_ENST00000297826.5_Missense_Mutation_p.N1412I|SVEP1_ENST00000374469.1_Missense_Mutation_p.N3463I NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3486 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GGAACAAGCATTTGGGCGTTG 0.502000 18 42 0 0 0.055883 0 0 SLC5A4 6527 broad.mit.edu 37 22 32625325 32625325 + Missense_Mutation SNP C C T rs142416109 TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr22:32625325C>T ENST00000266086.4 - 11 1147 c.1136G>A c.(1135-1137)cGa>cAa p.R379Q RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 379 carbohydrate transport|sodium ion transport integral to membrane symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CATCAGGCCTCGCAGTCCTGG 0.537000 5 36 0 0 0.014758 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37506697 37506697 + Missense_Mutation SNP G G C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr10:37506697G>C ENST00000374660.1 + 39 3446 c.3347G>C c.(3346-3348)gGa>gCa p.G1116A ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G997A|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.G997A Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1100 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GAAGAATTAGGAAGAATCGAA 0.318000 3 40 0 0 0.115264 0 0 NXPE3 91775 broad.mit.edu 37 3 101520161 101520161 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:101520161G>A ENST00000422132.1 + 2 373 c.176G>A c.(175-177)cGa>cAa p.R59Q NXPE3_ENST00000491511.1_Missense_Mutation_p.R59Q|NXPE3_ENST00000273347.5_Missense_Mutation_p.R59Q|NXPE3_ENST00000477909.1_Missense_Mutation_p.R59Q neurexophilin and PC-esterase domain family, member 3 GGAATTAGCCGAAATCCCTAC 0.532000 6 127 0 0 0.021553 0 0 RAD54B 25788 broad.mit.edu 37 8 95419835 95419835 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr8:95419835C>T ENST00000336148.5 - 5 737 c.613G>A c.(613-615)Ggc>Agc p.G205S NM_012415.3 NP_036547.1 O95073 FSBP_HUMAN RAD54 homolog B (S. cerevisiae) 0 double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) AAACACCTGCCACTGCTGAAG 0.418000 Direct reversal of damage;Homologous recombination 5 44 0 0 0.014758 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27826759 27826759 + Splice_Site SNP G G T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr12:27826759G>T ENST00000318304.8 + 16 1713 c.1431_splice c.e16+1 p.G477_splice PPFIBP1_ENST00000228425.6_Splice_Site_p.G460_splice|PPFIBP1_ENST00000537927.1_Splice_Site_p.G324_splice|PPFIBP1_ENST00000542629.1_Splice_Site_p.G446_splice NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193.2 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 477 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) ACATCTGATGGGGTGGGTTCT 0.348000 11 41 5.16669e-11 5.64178e-11 0.080935 1 0 HIP1 3092 broad.mit.edu 37 7 75192259 75192259 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr7:75192259C>T ENST00000336926.6 - 11 1026 c.1000G>A c.(1000-1002)Gac>Aac p.D334N HIP1_ENST00000434438.2_Missense_Mutation_p.D334N NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 334 activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 GCATCCATGTCCATGAGGTCA 0.592000 T PDGFRB CMML 4 27 0 0 0.014758 0 0 MYO9A 4649 broad.mit.edu 37 15 72119040 72119040 + Nonsense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr15:72119040G>A ENST00000356056.5 - 42 8000 c.7528C>T c.(7528-7530)Cag>Tag p.Q2510* MYO9A_ENST00000444904.1_Nonsense_Mutation_p.Q2491*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.Q2581*|MYO9A_ENST00000564571.1_3'UTR NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 2510 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TTGGTTTTCTGAGGTGAGTTT 0.478000 36 87 0 0 0.086207 0 0 NKAP 79576 broad.mit.edu 37 X 119059238 119059238 + Missense_Mutation SNP A A G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:119059238A>G ENST00000371410.3 - 9 1359 c.1193T>C c.(1192-1194)cTg>cCg p.L398P NKAP_ENST00000477789.1_5'UTR NM_024528.3 NP_078804.2 Q8N5F7 NKAP_HUMAN NFKB activating protein 398 Necessary for interaction with HDAC3 and transcriptional repression. negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1) 20 AAAACTGGCCAGAATCTTGTT 0.398000 29 82 0 0 0.134883 0 0 RBM44 375316 broad.mit.edu 37 2 238726938 238726938 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr2:238726938G>A ENST00000316997.4 + 3 1511 c.1379G>A c.(1378-1380)aGt>aAt p.S460N RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.S460N NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 459 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) GATGCAGCAAGTTGTACAGTC 0.398000 15 28 0 0 0.132662 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:178952085A>G ENST00000263967.3 + 21 3297 c.3140A>G c.(3139-3141)cAt>cGt p.H1047R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1387)|p.H1047L(194)|p.H1047P(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378000 H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 17 61 0 0 0.038395 0 0 GFRA1 2674 broad.mit.edu 37 10 117884986 117884986 + Silent SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr10:117884986C>T ENST00000439649.3 - 5 868 c.501G>A c.(499-501)tcG>tcA p.S167S GFRA1_ENST00000369236.1_Silent_p.S167S|GFRA1_ENST00000355422.6_Silent_p.S172S|GFRA1_ENST00000544592.1_Silent_p.S51S NM_001145453.1 NP_001138925.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 172 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) TGATGTACGCCGACCTGTACT 0.577000 12 28 0 0 0.093190 0 0 COL16A1 1307 broad.mit.edu 37 1 32148956 32148956 + Silent SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:32148956G>A ENST00000373672.3 - 35 2910 c.2394C>T c.(2392-2394)gcC>gcT p.A798A COL16A1_ENST00000271069.6_Silent_p.A797A|COL16A1_ENST00000373668.3_Silent_p.A798A NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 798 Triple-helical region 5 (COL5) with 3 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) GCAAACCCGGGGCTCCAGGCT 0.617000 45 141 0 0 0.139131 0 0 ACSM2B 348158 broad.mit.edu 37 16 20565237 20565237 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr16:20565237G>A ENST00000329697.6 - 5 770 c.602C>T c.(601-603)gCa>gTa p.A201V ACSM2B_ENST00000567001.1_Missense_Mutation_p.A201V|ACSM2B_ENST00000565232.1_Missense_Mutation_p.A201V|ACSM2B_ENST00000565322.1_Missense_Mutation_p.A122V NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 201 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 AGTGGTGGATGCCTCACTGAC 0.493000 14 44 0 0 0.119110 0 0 PSMA1 5682 broad.mit.edu 37 11 14526746 14526746 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr11:14526746C>T ENST00000530457.1 - 10 1239 c.709G>A c.(709-711)Gaa>Aaa p.E237K PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000396393.1_Missense_Mutation_p.E262K|PSMA1_ENST00000396394.2_Missense_Mutation_p.E262K|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000418988.2_Missense_Mutation_p.E268K P25786 PSA1_HUMAN proteasome (prosome, macropain) subunit, alpha type, 1 262 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex protein binding|RNA binding|threonine-type endopeptidase activity large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 3 ACTTAATGTTCCATTGGTTCA 0.333000 26 70 0 0 0.116897 0 0 CHD7 55636 broad.mit.edu 37 8 61765577 61765577 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr8:61765577G>A ENST00000423902.2 + 31 6772 c.6293G>A c.(6292-6294)cGa>cAa p.R2098Q CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2098 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CGGCATGACCGAGACTTGCTG 0.542000 13 26 0 0 0.132662 0 0 FGF13 2258 broad.mit.edu 37 X 137715119 137715119 + Silent SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:137715119G>A ENST00000315930.6 - 5 1291 c.630C>T c.(628-630)caC>caT p.H210H FGF13_ENST00000305414.4_Silent_p.H157H|FGF13_ENST00000370603.3_Silent_p.H220H|FGF13_ENST00000541469.1_Silent_p.H164H|FGF13_ENST00000441825.2_Silent_p.H191H NM_004114.3 NP_004105.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 210 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) CCGTGAGATCGTGCAGTGATG 0.483000 7 72 0 0 0.029380 0 0 SNHG14 104472715 broad.mit.edu 37 15 25427409 25427409 + RNA SNP T T A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr15:25427409T>A ENST00000424208.1 + 0 206 NR_003305.1 ATCAGCCAGGTGTCCAGCCCC 0.597000 15 32 0 0 0.119110 0 0 PPFIA4 8497 broad.mit.edu 37 1 203013095 203013095 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:203013095C>T ENST00000367240.2 + 4 900 c.373C>T c.(373-375)Cat>Tat p.H125Y PPFIA4_ENST00000447715.2_Missense_Mutation_p.H125Y|PPFIA4_ENST00000295706.4_5'UTR O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 128 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 GGTGTCCCGCCATGAACGGTC 0.622000 8 31 0 0 0.069234 0 0 OR10S1 219873 broad.mit.edu 37 11 123848324 123848324 + Silent SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr11:123848324G>A ENST00000531945.1 - 1 164 c.75C>T c.(73-75)ttC>ttT p.F25F NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CCTCCAGGAAGAAGTGGCTCA 0.502000 6 77 0 0 0.021553 0 0 USP8 9101 broad.mit.edu 37 15 50763974 50763974 + Silent SNP G G C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr15:50763974G>C ENST00000433963.1 + 9 1331 c.831G>C c.(829-831)ctG>ctC p.L277L USP8_ENST00000425032.3_Silent_p.L200L|USP8_ENST00000396444.3_Silent_p.L277L|USP8_ENST00000307179.4_Silent_p.L277L NM_001128611.1 NP_001122083.1 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 277 Rhodanese. cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) TCCGGAGTCTGAAAGATGCAC 0.393000 4 103 0 0 0.021553 0 0 IFT140 9742 broad.mit.edu 37 16 1614075 1614075 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr16:1614075C>T ENST00000426508.2 - 17 2353 c.1990G>A c.(1990-1992)Gaa>Aaa p.E664K IFT140_ENST00000439987.2_5'UTR NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 664 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) TGCACGGCTTCGCATACAAAC 0.577000 5 53 0 0 0.014758 0 0 VHLL 391104 broad.mit.edu 37 1 156268971 156268971 + Silent SNP T T G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:156268971T>G ENST00000339922.3 - 1 457 c.10A>C c.(10-12)Aga>Cga p.R4R NM_001004319.2 NP_001004319.1 Q6RSH7 VHLL_HUMAN von Hippel-Lindau tumor suppressor-like 4 protein ubiquitination nucleus endometrium(1)|lung(2)|ovary(1) 4 Hepatocellular(266;0.158) TTCCCCGCTCTCCAGGGCATT 0.592000 22 79 0 0 0.076483 0 0 SPEF2 79925 broad.mit.edu 37 5 35659168 35659168 + Silent SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr5:35659168C>T ENST00000440995.2 + 8 1026 c.1026C>T c.(1024-1026)tcC>tcT p.S342S SPEF2_ENST00000356031.3_Silent_p.S342S|SPEF2_ENST00000509059.1_Silent_p.S342S|SPEF2_ENST00000282469.6_Silent_p.S342S Q9C093 SPEF2_HUMAN sperm flagellar 2 342 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGCGGCAGTCCCAGCAGGAGC 0.468000 11 18 0 0 0.080935 0 0 PDX1 3651 broad.mit.edu 37 13 28498614 28498614 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr13:28498614G>A ENST00000381033.4 + 2 747 c.628G>A c.(628-630)Ggc>Agc p.G210S NM_000209.3 NP_000200.1 P52945 PDX1_HUMAN pancreatic and duodenal homeobox 1 210 GG -> SS (in Ref. 6; AAC05157). detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation nucleus sequence-specific DNA binding transcription factor activity all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) CAAGAAGCGCGGCGGCGGGAC 0.657000 7 16 0 0 0.029380 0 0 VPS33B 26276 broad.mit.edu 37 15 91542965 91542965 + Missense_Mutation SNP G G C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr15:91542965G>C ENST00000333371.3 - 22 2069 c.1716C>G c.(1714-1716)ttC>ttG p.F572L VPS33B_ENST00000535843.1_Missense_Mutation_p.F481L|VPS33B_ENST00000535906.1_Missense_Mutation_p.F545L NM_018668.3 NP_061138.3 Q9H267 VP33B_HUMAN vacuolar protein sorting 33 homolog B (yeast) 572 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2) 16 Lung NSC(78;0.0987)|all_lung(78;0.175) AACCACCCAAGAACACCACCA 0.507000 8 216 0 0 0.047766 0 0 CHD8 57680 broad.mit.edu 37 14 21873943 21873943 + Silent SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr14:21873943C>T ENST00000399982.2 - 14 3052 c.2988G>A c.(2986-2988)ccG>ccA p.P996P CHD8_ENST00000557364.1_Silent_p.P996P|CHD8_ENST00000430710.3_Silent_p.P717P|CHD8_ENST00000555962.1_Intron NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 996 Helicase ATP-binding. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) GAAATTGTGACGGTTCCAAGA 0.418000 8 130 0 0 0.038147 0 0 GRB14 2888 broad.mit.edu 37 2 165365311 165365311 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr2:165365311C>T ENST00000263915.3 - 7 1406 c.868G>A c.(868-870)Gtg>Atg p.V290M GRB14_ENST00000543549.1_Missense_Mutation_p.V203M NM_004490.2 NP_004481.2 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 290 PH. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 GCCAGTGACACATAAATATCA 0.348000 16 63 0 0 0.038395 0 0 MTMR14 64419 broad.mit.edu 37 3 9691417 9691417 + Silent SNP C C A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:9691417C>A ENST00000296003.4 + 1 272 c.150C>A c.(148-150)ggC>ggA p.G50G MTMR14_ENST00000353332.5_Silent_p.G50G|MTMR14_ENST00000420925.1_Silent_p.G50G|MTMR14_ENST00000351233.5_Silent_p.G50G NM_001077525.2 NP_001070993.1 Q8NCE2 MTMRE_HUMAN myotubularin related protein 14 50 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 21 Medulloblastoma(99;0.227) GCGGGACCGGCGGCTCTAAGG 0.612000 7 13 5.18039e-06 5.46819e-06 0.038147 1 0 OR4C11 219429 broad.mit.edu 37 11 55371357 55371357 + Missense_Mutation SNP G G A rs141808171 byFrequency TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr11:55371357G>A ENST00000302231.4 - 1 517 c.493C>T c.(493-495)Cct>Tct p.P165S NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 CCACAGAAAGGCAATCTTAAG 0.443000 16 14 0 0 0.146539 0 0 AIG1 51390 broad.mit.edu 37 6 143605338 143605338 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr6:143605338C>T ENST00000357847.4 + 4 541 c.491C>T c.(490-492)aCc>aTc p.T164I AIG1_ENST00000275235.4_Missense_Mutation_p.T164I|AIG1_ENST00000344492.5_Missense_Mutation_p.T112I NM_016108.2 NP_057192.2 Q9NVV5 AIG1_HUMAN androgen-induced 1 164 integral to membrane endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246) GCCATATGTACCTTCTCTGTT 0.433000 4 31 0 0 0.021553 0 0 MGAM2 93432 broad.mit.edu 37 7 141896542 141896542 + Nonsense_Mutation SNP G G T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr7:141896542G>T ENST00000477922.3 + 40 4612 c.4558G>T c.(4558-4560)Gag>Tag p.E1520* endometrium(1)|lung(5) 6 TGCTGAATATGAGATGTGTGT 0.478000 4 15 0.00024832 0.000255031 0.009096 1 0 KCTD1 284252 broad.mit.edu 37 18 24039710 24039710 + Missense_Mutation SNP C C G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr18:24039710C>G ENST00000417602.1 - 4 2312 c.2313G>C c.(2311-2313)ttG>ttC p.L771F KCTD1_ENST00000580059.1_Missense_Mutation_p.L163F|KCTD1_ENST00000317932.7_Missense_Mutation_p.L163F|KCTD1_ENST00000408011.3_Missense_Mutation_p.L163F|KCTD1_ENST00000579973.1_Missense_Mutation_p.L163F NM_001142730.2 NP_001136202.1 Q719H9 KCTD1_HUMAN potassium channel tetramerization domain containing 1 163 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|voltage-gated potassium channel complex transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3) 12 all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848) Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05) CTTCTTCTATCAAGGATTTGT 0.512000 4 63 0 0 0.014758 0 0 VCP 7415 broad.mit.edu 37 9 35059087 35059087 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr9:35059087C>T ENST00000358901.6 - 15 3029 c.2134G>A c.(2134-2136)Gag>Aag p.E712K NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 712 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GTCTGCCTCTCTCGTTCTCGC 0.552000 21 54 0 0 0.069288 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098810 178098810 + Missense_Mutation SNP C C G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr2:178098810C>G ENST00000397062.3 - 2 789 c.235G>C c.(235-237)Gag>Cag p.E79Q NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63Q|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63Q NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 79 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.E79K(10)|p.E79Q(10) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCACCTGTCTCTTCATCTAGT 0.443000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 3 46 0 0 0.115264 0 0 EP300 2033 broad.mit.edu 37 22 41564866 41564866 + Missense_Mutation SNP C C G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr22:41564866C>G ENST00000263253.7 + 25 5386 c.4167C>G c.(4165-4167)aaC>aaG p.N1389K NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1389 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CTCCACCCAACCAGAGGTATG 0.458000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 5 80 0 0 0.029380 0 0 PRMT7 54496 broad.mit.edu 37 16 68390961 68390961 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr16:68390961G>A ENST00000339507.5 + 19 2743 c.1913G>A c.(1912-1914)gGc>gAc p.G638D PRMT7_ENST00000449359.3_Missense_Mutation_p.G588D|PRMT7_ENST00000348497.4_Missense_Mutation_p.G490D|PRMT7_ENST00000441236.1_Missense_Mutation_p.G588D Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 638 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) CTACAGGGGGGCTGCTGCTGG 0.632000 4 28 0 0 0.009096 0 0 ALG10 84920 broad.mit.edu 37 12 34179307 34179307 + Silent SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr12:34179307C>T ENST00000266483.2 + 3 1198 c.879C>T c.(877-879)taC>taT p.Y293Y RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron NM_032834.3 NP_116223.3 Q5BKT4 AG10A_HUMAN ALG10, alpha-1,2-glucosyltransferase 293 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) AACTATTCTACTTTTTTTCAT 0.348000 43 111 0 0 0.117977 0 0 LYZL2 119180 broad.mit.edu 37 10 30915048 30915048 + Missense_Mutation SNP T T C rs143775752 byFrequency TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr10:30915048T>C ENST00000375318.2 - 3 478 c.422A>G c.(421-423)cAc>cGc p.H141R NM_183058.2 NP_898881.2 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 95 cell wall macromolecule catabolic process extracellular region lysozyme activity p.H141L(1) NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1) 19 Prostate(175;0.151) GCAGGCGACGTGGCAGTGGTT 0.557000 11 54 0 0 0.105934 0 0 HKR1 284459 broad.mit.edu 37 19 37854366 37854366 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr19:37854366G>A ENST00000591471.1 + 9 2491 c.850G>A c.(850-852)Gag>Aag p.E284K HKR1_ENST00000589392.1_Missense_Mutation_p.E539K|HKR1_ENST00000324411.4_Missense_Mutation_p.E557K|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000392153.3_Missense_Mutation_p.E538K|HKR1_ENST00000541583.2_Missense_Mutation_p.E496K|HKR1_ENST00000544914.1_Missense_Mutation_p.E284K P10072 HKR1_HUMAN HKR1, GLI-Kruppel zinc finger family member 557 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TATGTGCAGGGAGTGTGGCAG 0.512000 9 25 0 0 0.047766 0 0 SSX5 6758 broad.mit.edu 37 X 48054486 48054486 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:48054486G>A ENST00000311798.1 - 3 201 c.149C>T c.(148-150)gCc>gTc p.A50V SSX5_ENST00000376923.1_Intron|SSX5_ENST00000347757.1_Intron NM_021015.3 NP_066295.3 O60225 SSX5_HUMAN synovial sarcoma, X breakpoint 5 23 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1) 18 AATGCTGCTGGCTGGCTCTCT 0.522000 23 41 0 0 0.069288 0 0 ADCY5 111 broad.mit.edu 37 3 123046600 123046600 + Missense_Mutation SNP G G C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:123046600G>C ENST00000462833.1 - 7 3024 c.1812C>G c.(1810-1812)atC>atG p.I604M ADCY5_ENST00000309879.5_Missense_Mutation_p.I254M|ADCY5_ENST00000491190.1_Missense_Mutation_p.I237M NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 604 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) TGGTGATGTGGATGCGTCTAC 0.552000 3 25 0 0 0.115264 0 0 FHOD1 29109 broad.mit.edu 37 16 67263809 67263809 + Missense_Mutation SNP G G T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr16:67263809G>T ENST00000258201.4 - 21 3546 c.3299C>A c.(3298-3300)cCc>cAc p.P1100H FHOD1_ENST00000567687.1_Missense_Mutation_p.P679H NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 1100 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) TGTATCACTGGGTAAACTGGA 0.587000 20 50 7.45023e-12 8.32672e-12 0.055883 1 0 OR13C9 286362 broad.mit.edu 37 9 107380043 107380043 + Missense_Mutation SNP G G T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr9:107380043G>T ENST00000259362.1 - 1 442 c.443C>A c.(442-444)tCc>tAc p.S148Y NM_001001956.1 NP_001001956.1 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, member 9 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4) 22 TGCAAACCAGGACCCAACAGC 0.448000 14 103 9.05144e-12 9.99869e-12 0.105934 1 0 RAC1 5879 broad.mit.edu 37 7 6426860 6426860 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr7:6426860G>A ENST00000348035.4 + 2 266 c.53G>A c.(52-54)tGc>tAc p.C18Y RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.C18Y NM_006908.4 NP_008839.2 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 18 actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) GGTAAAACTTGCCTACTGATC 0.338000 17 41 0 0 0.033300 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130217855 130217855 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:130217855G>A ENST00000276211.5 + 4 812 c.467G>A c.(466-468)cGa>cAa p.R156Q ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R144Q|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R20Q NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 156 Arg-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 AACGTGGTGCGAAGGGTGTTT 0.617000 27 53 0 0 0.108266 0 0 OR13C4 138804 broad.mit.edu 37 9 107288587 107288587 + Missense_Mutation SNP C C G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr9:107288587C>G ENST00000277216.3 - 1 903 c.904G>C c.(904-906)Gat>Cat p.D302H NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 GCTTTTACATCTTTATTTCTC 0.378000 5 70 0 0 0.014758 0 0 MPP4 58538 broad.mit.edu 37 2 202523236 202523236 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr2:202523236C>T ENST00000409474.3 - 16 1300 c.1093G>A c.(1093-1095)Gag>Aag p.E365K MPP4_ENST00000359962.5_Missense_Mutation_p.E365K|MPP4_ENST00000409143.1_Missense_Mutation_p.E307K|MPP4_ENST00000428900.2_Missense_Mutation_p.E341K|MPP4_ENST00000315506.7_Missense_Mutation_p.E321K|MPP4_ENST00000396886.3_Missense_Mutation_p.E290K|MPP4_ENST00000447335.2_Missense_Mutation_p.E358K NM_033066.2 NP_149055.1 Q96JB8 MPP4_HUMAN membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) 365 cytoplasm protein binding kidney(1)|lung(11) 12 ACAAACTCCTCCTTGTCTGAA 0.368000 8 15 0 0 0.047766 0 0 NFRKB 4798 broad.mit.edu 37 11 129746654 129746654 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr11:129746654C>T ENST00000446488.3 - 16 1812 c.1709G>A c.(1708-1710)cGc>cAc p.R570H NFRKB_ENST00000524746.1_Missense_Mutation_p.R570H|NFRKB_ENST00000524794.1_Missense_Mutation_p.R595H|NFRKB_ENST00000304521.5_Missense_Mutation_p.R570H NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 570 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) CCGGTCGGAGCGCAGCAGGGA 0.572000 8 37 0 0 0.058154 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098957 178098957 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr2:178098957G>A ENST00000397062.3 - 2 642 c.88C>T c.(88-90)Ctt>Ttt p.L30F NFE2L2_ENST00000464747.1_Missense_Mutation_p.L14F|NFE2L2_ENST00000446151.2_Missense_Mutation_p.L14F|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L14F|NFE2L2_ENST00000423513.1_Missense_Mutation_p.L14F NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 30 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L30F(5) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) CTTACTCCAAGATCTATATCT 0.368000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 7 25 0 0 0.029380 0 0 ANKRD12 23253 broad.mit.edu 37 18 9257777 9257777 + Silent SNP G G T rs74916798 TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr18:9257777G>T ENST00000383440.2 + 8 4700 c.4443G>T c.(4441-4443)tcG>tcT p.S1481S ANKRD12_ENST00000400020.3_Silent_p.S1481S|ANKRD12_ENST00000262126.3_Silent_p.S1504S NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 1504 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 ATGCTGAATCGATTTCTAAAC 0.413000 11 35 7.03913e-09 7.64248e-09 0.093190 1 0 KCNB2 9312 broad.mit.edu 37 8 73480224 73480224 + Silent SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr8:73480224C>T ENST00000523207.1 + 2 843 c.255C>T c.(253-255)aaC>aaT p.N85N NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 85 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TGAACGAGAACGAGTATTTCT 0.512000 17 47 0 0 0.038395 0 0 FKBPL 63943 broad.mit.edu 37 6 32097032 32097032 + Nonsense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr6:32097032G>A ENST00000375156.3 - 2 796 c.526C>T c.(526-528)Cag>Tag p.Q176* NM_022110.3 NP_071393.2 Q9UIM3 FKBPL_HUMAN FK506 binding protein like 176 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity CCAGGCAGCTGAAGCTCTGCT 0.572000 10 149 0 0 0.058154 0 0 FAT4 79633 broad.mit.edu 37 4 126412412 126412412 + Missense_Mutation SNP G G T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr4:126412412G>T ENST00000394329.3 + 17 14448 c.14435G>T c.(14434-14436)aGg>aTg p.R4812M FAT4_ENST00000335110.5_Missense_Mutation_p.R3053M NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4812 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GACCATGGGAGGTCTTCTTCA 0.512000 21 45 2.39187e-15 2.68909e-15 0.049695 1 0 MMGT1 93380 broad.mit.edu 37 X 135047295 135047295 + Missense_Mutation SNP T T C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chrX:135047295T>C ENST00000305963.2 - 4 671 c.284A>G c.(283-285)cAt>cGt p.H95R MMGT1_ENST00000433339.2_Missense_Mutation_p.H160R NM_173470.1 NP_775741.1 Q8N4V1 MMGT1_HUMAN membrane magnesium transporter 1 95 early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane magnesium ion transmembrane transporter activity cervix(1)|endometrium(1)|kidney(1) 3 TCGACCACGATGATTAAATAC 0.353000 42 100 0 0 0.131918 0 0 WDR77 79084 broad.mit.edu 37 1 111985333 111985333 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:111985333C>T ENST00000235090.5 - 8 948 c.742G>A c.(742-744)Gtc>Atc p.V248I WDR77_ENST00000497278.1_5'UTR|WDR77_ENST00000411751.2_Missense_Mutation_p.V184I NM_024102.2 NP_077007.1 Q9BQA1 MEP50_HUMAN WD repeat domain 77 248 ncRNA metabolic process|spliceosomal snRNP assembly cytosol|nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) GAGCTCAGGACACAGCTTGTA 0.493000 5 19 0 0 0.014758 0 0 IGSF22 283284 broad.mit.edu 37 11 18735568 18735568 + Nonsense_Mutation SNP G G T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr11:18735568G>T ENST00000513874.1 - 14 2065 c.1926C>A c.(1924-1926)taC>taA p.Y642* RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 642 Ig-like 4. NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 TGCCATCCTTGTACCATGTCA 0.602000 24 64 9.86323e-18 1.11548e-17 0.091800 1 0 FAT1 2195 broad.mit.edu 37 4 187539863 187539863 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr4:187539863C>T ENST00000441802.2 - 10 8086 c.7877G>A c.(7876-7878)gGc>gAc p.G2626D NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2626 Cadherin 24. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GGCATTGGAGCCCTCATCGGC 0.448000 HNSCC(5;0.00058) 9 27 0 0 0.047766 0 0 CELSR2 1952 broad.mit.edu 37 1 109795883 109795883 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:109795883C>T ENST00000271332.3 + 1 3243 c.3182C>T c.(3181-3183)aCt>aTt p.T1061I NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1061 Cadherin 9. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GATAGTCTGACTTACAGCTTT 0.547000 16 43 0 0 0.132662 0 0 KIF17 57576 broad.mit.edu 37 1 21031194 21031194 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:21031194G>A ENST00000247986.2 - 5 1179 c.869C>T c.(868-870)tCg>tTg p.S290L KIF17_ENST00000375044.1_Missense_Mutation_p.S190L|KIF17_ENST00000400463.3_Missense_Mutation_p.S290L Q9P2E2 KIF17_HUMAN kinesin family member 17 290 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) CGTCAGCTTCGAGTCACGGTA 0.622000 16 44 0 0 0.038395 0 0 LAMA2 3908 broad.mit.edu 37 6 129649434 129649434 + Silent SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr6:129649434G>A ENST00000421865.2 + 29 4237 c.4188G>A c.(4186-4188)ccG>ccA p.P1396P NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1396 Laminin EGF-like 14; second part. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.P1396P(1) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CATGCTTGCCGGGATTTTATC 0.507000 21 73 0 0 0.062417 0 0 GPR137B 7107 broad.mit.edu 37 1 236341831 236341831 + Silent SNP A A T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:236341831A>T ENST00000366592.3 + 3 673 c.582A>T c.(580-582)cgA>cgT p.R194R GPR137B_ENST00000366591.4_Intron NM_003272.3 NP_003263.1 O60478 G137B_HUMAN G protein-coupled receptor 137B 194 integral to plasma membrane|membrane fraction endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226) OV - Ovarian serous cystadenocarcinoma(106;0.00162) TCTCTGTGCGAGTGGCCATTA 0.473000 27 54 0 0 0.091800 0 0 DCAF10 79269 broad.mit.edu 37 9 37854962 37854962 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr9:37854962G>A ENST00000242323.7 + 4 1111 c.1037G>A c.(1036-1038)aGa>aAa p.R346K DCAF10_ENST00000377724.3_Missense_Mutation_p.R346K|DCAF10_ENST00000483167.1_3'UTR|RP11-613M10.9_ENST00000540557.1_Intron Q5QP82 DCA10_HUMAN DDB1 and CUL4 associated factor 10 346 CUL4 RING ubiquitin ligase complex central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 12 AGAGCAAGAAGAACTACTTCA 0.338000 19 60 0 0 0.049695 0 0 ZNF438 220929 broad.mit.edu 37 10 31133973 31133973 + Missense_Mutation SNP C C G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr10:31133973C>G ENST00000538351.1 - 8 3011 c.2257G>C c.(2257-2259)Gag>Cag p.E753Q ZNF438_ENST00000444692.2_Missense_Mutation_p.E792Q|ZNF438_ENST00000442986.1_Missense_Mutation_p.E802Q|ZNF438_ENST00000375311.1_Missense_Mutation_p.E366Q|ZNF438_ENST00000436087.2_Missense_Mutation_p.E802Q|ZNF438_ENST00000361310.3_Missense_Mutation_p.E802Q|ZNF438_ENST00000331737.6_Missense_Mutation_p.E792Q|ZNF438_ENST00000452305.1_Missense_Mutation_p.E792Q|ZNF438_ENST00000413025.1_Missense_Mutation_p.E802Q NM_001143769.1 NP_001137241.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 802 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) GAAGGGTCCTCACAGTTATGC 0.517000 7 184 0 0 0.038147 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455029 84455029 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr13:84455029G>A ENST00000377084.2 - 1 1499 c.614C>T c.(613-615)gCg>gTg p.A205V NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 205 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CAGGATCTCCGCAATACCAGG 0.542000 22 39 0 0 0.055883 0 0 ITPK1 3705 broad.mit.edu 37 14 93412800 93412800 + Missense_Mutation SNP G G T rs144084022 TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr14:93412800G>T ENST00000267615.6 - 10 950 c.777C>A c.(775-777)gaC>gaA p.D259E ITPK1_ENST00000354313.3_Missense_Mutation_p.D259E|ITPK1_ENST00000555495.1_Missense_Mutation_p.D140E|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000556603.2_Missense_Mutation_p.D259E Q13572 ITPK1_HUMAN inositol-tetrakisphosphate 1-kinase 259 ATP-grasp. blood coagulation|inositol trisphosphate metabolic process|signal transduction cytosol ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding p.D259E(1) endometrium(1)|large_intestine(3)|lung(6)|ovary(1) 11 all_cancers(154;0.077)|all_epithelial(191;0.247) Epithelial(152;0.124)|all cancers(159;0.169) GGATGACCTCGTCGCTCGGCC 0.637000 5 41 0.000602214 0.000611876 0.014758 1 0 ADAMTSL1 92949 broad.mit.edu 37 9 18574122 18574122 + Missense_Mutation SNP T T C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr9:18574122T>C ENST00000380548.4 + 4 671 c.332T>C c.(331-333)gTg>gCg p.V111A ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.V111A|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.V111A|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.V111A|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.V111A|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.V111A NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 111 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) TGGCTTCCTGTGTCTAATGAC 0.498000 41 108 0 0 0.104719 0 0 ITPK1 3705 broad.mit.edu 37 14 93408122 93408122 + Silent SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr14:93408122G>A ENST00000267615.6 - 11 1202 c.1029C>T c.(1027-1029)gcC>gcT p.A343A ITPK1_ENST00000354313.3_Intron|ITPK1_ENST00000555495.1_Silent_p.A224A|ITPK1_ENST00000556603.2_Silent_p.A343A Q13572 ITPK1_HUMAN inositol-tetrakisphosphate 1-kinase 343 blood coagulation|inositol trisphosphate metabolic process|signal transduction cytosol ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding endometrium(1)|large_intestine(3)|lung(6)|ovary(1) 11 all_cancers(154;0.077)|all_epithelial(191;0.247) Epithelial(152;0.124)|all cancers(159;0.169) CCGCCGGCTCGGCCAGAAGCT 0.711000 4 14 0 0 0.009096 0 0 ITPR2 3709 broad.mit.edu 37 12 26572049 26572049 + Missense_Mutation SNP T T C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr12:26572049T>C ENST00000381340.3 - 50 7459 c.7043A>G c.(7042-7044)tAt>tGt p.Y2348C RP11-513G19.1_ENST00000535324.1_RNA NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2348 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) CGCCACGTGATAGAGAAAGGC 0.453000 19 51 0 0 0.038395 0 0 MED24 9862 broad.mit.edu 37 17 38175892 38175892 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr17:38175892C>T ENST00000394126.1 - 25 3353 c.2935G>A c.(2935-2937)Gaa>Aaa p.E979K MED24_ENST00000501516.3_Missense_Mutation_p.E973K|MED24_ENST00000394128.2_Missense_Mutation_p.E954K|MED24_ENST00000394127.2_Missense_Mutation_p.E941K|MED24_ENST00000356271.3_Missense_Mutation_p.E941K O75448 MED24_HUMAN mediator complex subunit 24 954 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) TTCACCAGTTCCGACACCTGC 0.657000 20 42 0 0 0.062417 0 0 ANO5 203859 broad.mit.edu 37 11 22257816 22257816 + Silent SNP C C A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr11:22257816C>A ENST00000324559.8 + 8 1073 c.756C>A c.(754-756)ctC>ctA p.L252L NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 252 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCTATCCACTCCATGATGTAT 0.383000 11 37 5.16669e-11 5.64178e-11 0.080935 1 0 CLOCK 9575 broad.mit.edu 37 4 56315585 56315585 + Missense_Mutation SNP C C G TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr4:56315585C>G ENST00000309964.4 - 16 1677 c.1427G>C c.(1426-1428)aGa>aCa p.R476T CLOCK_ENST00000381322.1_Missense_Mutation_p.R476T|CLOCK_ENST00000513440.1_Missense_Mutation_p.R476T NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 476 circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) TGATGACCTTCTTTGCACCAT 0.398000 23 48 0 0 0.108266 0 0 SPAG5 10615 broad.mit.edu 37 17 26913009 26913009 + Missense_Mutation SNP C C T TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr17:26913009C>T ENST00000321765.5 - 7 1945 c.1613G>A c.(1612-1614)cGt>cAt p.R538H NM_006461.3 NP_006452.3 Q96R06 SPAG5_HUMAN sperm associated antigen 5 538 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) TGTTTCTGCACGCCGAGACTA 0.483000 46 143 0 0 0.139131 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 3 46 0 0 0.115264 0 0 PDE4DIP 9659 broad.mit.edu 37 1 145075708 145075708 + Missense_Mutation SNP C C T rs148346797 byFrequency TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr1:145075708C>T ENST00000369359.4 - 1 193 c.155G>A c.(154-156)cGg>cAg p.R52Q PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R52Q|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R52Q|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.R52Q Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CTCCGGGCGCCGTCTTTCCCG 0.721000 T PDGFRB MPD 13 82 0 0 0.105934 0 0 WSCD1 23302 broad.mit.edu 37 17 5998441 5998441 + Silent SNP C C T rs148922288 TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr17:5998441C>T ENST00000574946.1 + 5 1137 c.747C>T c.(745-747)cgC>cgT p.R249R WSCD1_ENST00000574232.1_Silent_p.R249R|WSCD1_ENST00000573634.1_Silent_p.R133R|WSCD1_ENST00000539421.1_Silent_p.R249R|WSCD1_ENST00000317744.5_Silent_p.R249R Q658N2 WSCD1_HUMAN WSC domain containing 1 249 WSC 2. integral to membrane sulfotransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1) 35 CCACCTACCGCGGATGCTTCC 0.572000 18 82 0 0 0.038395 0 0 MAP1A 4130 broad.mit.edu 37 15 43815140 43815140 + Missense_Mutation SNP G G A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr15:43815140G>A ENST00000382031.1 + 5 2214 c.2183G>A c.(2182-2184)cGt>cAt p.R728H MAP1A_ENST00000300231.5_Missense_Mutation_p.R490H|MAP1A_ENST00000399453.1_Missense_Mutation_p.R490H P78559 MAP1A_HUMAN microtubule-associated protein 1A 490 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GACAGGAGCCGTGCTATCCGT 0.542000 10 12 0 0 0.069234 0 0 OXTR 5021 broad.mit.edu 37 3 8809643 8809645 + In_Frame_Del DEL GAA GAA - TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr3:8809643_8809645delGAA ENST00000316793.3 - 3 853_855 c.229_231delTTC c.(229-231)del p.F77del CAV3_ENST00000472766.1_Intron NM_000916.3 NP_000907.2 P30559 OXYR_HUMAN oxytocin receptor 77 female pregnancy|lactation|muscle contraction integral to plasma membrane oxytocin receptor activity|vasopressin receptor activity NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(96;0.15) Carbetocin(DB01282) GGTGCTTCATGAAGAAGAAGAGG 0.635 5 8 --- --- --- --- TIGD4 201798 broad.mit.edu 37 4 153691769 153691770 + Frame_Shift_Ins INS - - A TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr4:153691769_153691770insA ENST00000304337.2 - 2 1207_1208 c.387_388insT c.(385-390)agatggfs p.RW129fs NM_145720.3 NP_663772.1 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 129 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.093) AGCCAACCATTACTGCACTTAA 0.416 17 47 --- --- --- --- JMY 133746 broad.mit.edu 37 5 78611869 78611869 + Frame_Shift_Del DEL T T - TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr5:78611869delT ENST00000396137.4 + 10 3168 c.2706delT c.(2704-2706)agfs p.S902fs JMY_ENST00000412001.1_Intron NM_152405.4 NP_689618.4 Q8N9B5 JMY_HUMAN junction mediating and regulatory protein, p53 cofactor 902 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1) 16 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) AGCGTGGTAGTTTTCATCTGA 0.393 23 81 --- --- --- --- C6orf62 81688 broad.mit.edu 37 6 24709057 24709059 + In_Frame_Del DEL ACA ACA - TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr6:24709057_24709059delACA ENST00000378119.4 - 4 2677_2679 c.510_512delTGT c.(508-513)gtc>gt p.VV170del C6orf62_ENST00000378102.3_In_Frame_Del_p.VV141del|C6orf62_ENST00000540769.1_In_Frame_Del_p.VV112del NM_030939.4 NP_112201.1 Q9GZU0 CF062_HUMAN chromosome 6 open reading frame 62 170 intracellular endometrium(2)|kidney(3)|large_intestine(2)|lung(3) 10 AGGATTGTTGACAACGATTCCAG 0.384 19 92 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151859299 151859300 + Frame_Shift_Ins INS - - AAGAT TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr7:151859299_151859300insAAGAT ENST00000355193.2 - 43 11580_11581 c.11362_11363insATCTT c.(11362-11364)tctfs p.S3788fs KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.S3788fs lysine (K)-specific methyltransferase 2C ATTCAAAAGAGAAGATGACTTT 0.436 7 33 --- --- --- --- KRT5 3852 broad.mit.edu 37 12 52913978 52913979 + Frame_Shift_Ins INS - - GG TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr12:52913978_52913979insGG ENST00000252242.4 - 1 492_493 c.102_103insCC c.(100-105)tctgtcfs p.V35fs NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 35 Head. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) GACCGGGACACGGAGGTGAAGC 0.663 31 51 --- --- --- --- SNORA11 677799 broad.mit.edu 37 14 70270922 70270922 + RNA DEL T T - rs11429169 TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr14:70270922delT ENST00000408133.1 - 0 126 ATGGATTCTCTTTTTTTTTTT 0.353 3 5 --- --- --- --- CTCF 10664 broad.mit.edu 37 16 67663349 67663361 + Frame_Shift_Del DEL GAGGGGGAAAATG GAGGGGGAAAATG - TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr16:67663349_67663361delGAGGGGGAAAATG ENST00000264010.4 + 10 2194_2206 c.1750_1762delGAGGGGGAAAATG c.(1750-1764)gafs p.EGENG584fs CTCF_ENST00000401394.1_Frame_Shift_Del_p.EGENG256fs NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 584 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) AGATGGCGTAGAGGGGGAAAATGGAGGAGAAAC 0.413 12 53 --- --- --- --- GPS2 2874 broad.mit.edu 37 17 7216126 7216127 + Frame_Shift_Ins INS - - GG TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr17:7216126_7216127insGG ENST00000380728.2 - 11 1232_1233 c.932_933insCC c.(931-933)ccgfs p.P311fs GPS2_ENST00000391950.3_Intron|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000389167.5_Frame_Shift_Ins_p.P311fs Q13227 GPS2_HUMAN G protein pathway suppressor 2 311 cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter transcriptional repressor complex GTPase inhibitor activity|protein binding|transcription corepressor activity breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4) 24 Prostate(122;0.157) AGGGGAGCCGAGGGCCAGGTTG 0.545 27 137 --- --- --- --- KRT17P1 147228 broad.mit.edu 37 17 16748911 16748913 + RNA DEL GCT GCT - TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr17:16748911_16748913delGCT ENST00000580363.1 - 0 282_284 lung(4) 4 CGCCCTCAAAGCTGCTGCTGCCA 0.650 2 4 --- --- --- --- ZBTB32 27033 broad.mit.edu 37 19 36206144 36206148 + Frame_Shift_Del DEL GATGG GATGG - TCGA-H7-7774-01A-21D-2078-08 TCGA-H7-7774-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eb5b79a-e3be-4b19-aef6-74247986aaf6 14396841-202f-433a-bdcc-292b733f535f g.chr19:36206144_36206148delGATGG ENST00000392197.2 + 3 934_938 c.616_620delGATGG c.(616-621)gfs p.DG206fs ZBTB32_ENST00000262630.3_Frame_Shift_Del_p.DG206fs Q9Y2Y4 ZBT32_HUMAN zinc finger and BTB domain containing 32 206 DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 14 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGGGGAGCAGATGGGAAGCATGGA 0.615 9 41 --- --- --- ---