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_status validation_method validation_tumor_sample validation_alt_allele filter PRAMEF6 440561 broad.mit.edu 37 1 13001318 13001318 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:13001318C>A uc001auq.2 - 3 451 c.365G>T c.(364-366)CGT>CTT p.R122L PRAMEF5_uc001aur.2_Intron NM_001010889 NP_001010889 Q5VXH4 PRAM6_HUMAN PRAME family member 6 122 0 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAAGCACCCACGGGCCATAGC 0.502 68 355 --- --- --- --- PASS KLHDC7A 127707 broad.mit.edu 37 1 18808058 18808058 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:18808058G>A uc001bax.2 + 1 635 c.583G>A c.(583-585)GAG>AAG p.E195K KLHDC7A_uc009vpg.2_5'UTR NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 195 integral to membrane ovary(2)|upper_aerodigestive_tract(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TAAACCCCGTGAGCATCCAGG 0.612 14 29 --- --- --- --- PASS HSPG2 3339 broad.mit.edu 37 1 22211643 22211643 + Silent SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:22211643G>A uc001bfj.2 - 11 1258 c.1218C>T c.(1216-1218)CCC>CCT p.P406P HSPG2_uc009vqd.2_Silent_p.P406P NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 406 Ig-like C2-type 1. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TCACCACCTGGGGGGGCACTG 0.667 11 14 --- --- --- --- PASS AHDC1 27245 broad.mit.edu 37 1 27874402 27874402 + Missense_Mutation SNP T G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:27874402T>G uc009vsy.2 - 6 5194 c.4225A>C c.(4225-4227)AAG>CAG p.K1409Q AHDC1_uc009vsz.1_Missense_Mutation_p.K1409Q NM_001029882 NP_001025053 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1409 DNA binding central_nervous_system(1) 1 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) AGCTCTTCCTTGAAGCCCAGT 0.672 58 42 --- --- --- --- PASS C1orf216 127703 broad.mit.edu 37 1 36181836 36181836 + Silent SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:36181836T>A uc001bzh.1 - 2 575 c.87A>T c.(85-87)CCA>CCT p.P29P NM_152374 NP_689587 Q8TAB5 CA216_HUMAN hypothetical protein LOC127703 29 skin(1) 1 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) AGTTGCTGTCTGGTTGGAGCT 0.572 OREG0013357 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 35 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39910348 39910348 + Silent SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:39910348G>A uc010oiu.1 + 45 14906 c.14775G>A c.(14773-14775)CAG>CAA p.Q4925Q MACF1_uc010ois.1_Silent_p.Q4423Q NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TCTATTCCCAGCTGAAAGCCA 0.443 3 47 --- --- --- --- PASS PABPC4 8761 broad.mit.edu 37 1 40029580 40029580 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:40029580C>A uc010oiv.1 - 11 2318 c.1420G>T c.(1420-1422)GAC>TAC p.D474Y PABPC4_uc001cdl.2_Missense_Mutation_p.D490Y|PABPC4_uc001cdm.2_Intron NM_003819 NP_003810 Q13310 PABP4_HUMAN poly A binding protein, cytoplasmic 4 isoform 2 474 blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding 0 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GCCAAGCGGTCCGGGCACTCA 0.582 7 35 --- --- --- --- PASS PABPC4 8761 broad.mit.edu 37 1 40029581 40029581 + Silent SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:40029581C>G uc010oiv.1 - 11 2317 c.1419G>C c.(1417-1419)CCG>CCC p.P473P PABPC4_uc001cdl.2_Silent_p.P489P|PABPC4_uc001cdm.2_Intron NM_003819 NP_003810 Q13310 PABP4_HUMAN poly A binding protein, cytoplasmic 4 isoform 2 473 blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding 0 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CCAAGCGGTCCGGGCACTCAG 0.582 8 35 --- --- --- --- PASS PABPC4 8761 broad.mit.edu 37 1 40029582 40029582 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:40029582G>A uc010oiv.1 - 11 2316 c.1418C>T c.(1417-1419)CCG>CTG p.P473L PABPC4_uc001cdl.2_Missense_Mutation_p.P489L|PABPC4_uc001cdm.2_Intron NM_003819 NP_003810 Q13310 PABP4_HUMAN poly A binding protein, cytoplasmic 4 isoform 2 473 blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding 0 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CAAGCGGTCCGGGCACTCAGA 0.577 8 35 --- --- --- --- PASS FAM159A 348378 broad.mit.edu 37 1 53122665 53122665 + Nonsense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:53122665G>T uc001cuf.2 + 3 626 c.526G>T c.(526-528)GAG>TAG p.E176* FAM159A_uc001cug.1_Intron|FAM159A_uc001cuh.2_Intron NM_001042693 NP_001036158 Q6UWV7 F159A_HUMAN hypothetical protein LOC348378 176 integral to membrane 0 AGGCAGCCCTGAGGAAGCCTC 0.527 129 142 --- --- --- --- PASS CDCP2 200008 broad.mit.edu 37 1 54606960 54606960 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:54606960C>A uc001cwv.1 - 3 1422 c.574G>T c.(574-576)GTG>TTG p.V192L NM_201546 NP_963840 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 precursor 192 CUB 2. extracellular region ovary(1) 1 TTGCCCTCCACCTGGAAGTCC 0.637 34 37 --- --- --- --- PASS PDE4B 5142 broad.mit.edu 37 1 66384311 66384311 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:66384311G>T uc001dcn.2 + 3 265 c.74G>T c.(73-75)AGT>ATT p.S25I PDE4B_uc009war.2_Intron|PDE4B_uc001dco.2_Missense_Mutation_p.S25I NM_001037341 NP_001032418 Q07343 PDE4B_HUMAN phosphodiesterase 4B isoform 1 25 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) TGTAGCTTGAGTAAATCCTAC 0.383 30 29 --- --- --- --- PASS LRRIQ3 127255 broad.mit.edu 37 1 74507364 74507364 + Silent SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:74507364G>T uc001dfy.3 - 7 1443 c.1251C>A c.(1249-1251)CTC>CTA p.L417L LRRIQ3_uc001dfz.3_Intron NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 417 ovary(2) 2 TAAATGTTCGGAGTTTCATAC 0.368 45 47 --- --- --- --- PASS LHX8 431707 broad.mit.edu 37 1 75606778 75606778 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:75606778C>A uc001dgo.2 + 5 1040 c.376C>A c.(376-378)CTT>ATT p.L126I LHX8_uc001dgq.2_Missense_Mutation_p.L65I NM_001001933 NP_001001933 Q68G74 LHX8_HUMAN LIM homeobox 8 126 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 TTTCTGCAAACTTGATTATTT 0.378 44 51 --- --- --- --- PASS LHX8 431707 broad.mit.edu 37 1 75606780 75606780 + Silent SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:75606780T>A uc001dgo.2 + 5 1042 c.378T>A c.(376-378)CTT>CTA p.L126L LHX8_uc001dgq.2_Silent_p.L65L NM_001001933 NP_001001933 Q68G74 LHX8_HUMAN LIM homeobox 8 126 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 TCTGCAAACTTGATTATTTCA 0.368 43 52 --- --- --- --- PASS LPPR4 9890 broad.mit.edu 37 1 99772006 99772006 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:99772006C>A uc001dse.2 + 7 1838 c.1732C>A c.(1732-1734)CAA>AAA p.Q578K LPPR4_uc010oue.1_Missense_Mutation_p.Q520K NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 578 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CCGAATCATGCAAGTCATAGC 0.547 37 23 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103412503 103412503 + Nonsense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:103412503C>A uc001dul.2 - 42 3496 c.3178G>T c.(3178-3180)GGA>TGA p.G1060* COL11A1_uc001duk.2_Nonsense_Mutation_p.G256*|COL11A1_uc001dum.2_Nonsense_Mutation_p.G1072*|COL11A1_uc001dun.2_Nonsense_Mutation_p.G1021*|COL11A1_uc009weh.2_Nonsense_Mutation_p.G944* NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1060 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCACGTTCTCCTGGTGAGCCC 0.468 14 13 --- --- --- --- PASS CELSR2 1952 broad.mit.edu 37 1 109795276 109795276 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:109795276G>C uc001dxa.3 + 1 2636 c.2575G>C c.(2575-2577)GAT>CAT p.D859H NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 859 Extracellular (Potential).|Cadherin 7. 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 ovary(4)|lung(3)|skin(1) 8 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) AGGAGGCGACGATGGAGACGG 0.547 27 30 --- --- --- --- PASS CHI3L2 1117 broad.mit.edu 37 1 111784000 111784000 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:111784000G>T uc001eam.2 + 9 1041 c.970G>T c.(970-972)GTT>TTT p.V324F CHI3L2_uc001ean.2_Missense_Mutation_p.V314F|CHI3L2_uc001eao.2_Missense_Mutation_p.V245F|CHI3L2_uc009wga.2_Intron NM_004000 NP_003991 Q15782 CH3L2_HUMAN chitinase 3-like 2 isoform a 324 chitin catabolic process extracellular space cation binding|chitinase activity central_nervous_system(1) 1 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) GGATCAACAGGTTCCCTACGC 0.532 28 30 --- --- --- --- PASS HFE2 148738 broad.mit.edu 37 1 145415810 145415810 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:145415810T>C uc001eni.2 + 3 954 c.629T>C c.(628-630)TTG>TCG p.L210S NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Intron|HFE2_uc001enk.2_Missense_Mutation_p.L97S|HFE2_uc001enl.2_Intron NM_213653 NP_998818 Q6ZVN8 RGMC_HUMAN hemojuvelin isoform a precursor 210 axon guidance anchored to membrane ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CCCATGGCGTTGGGGGCCAAC 0.572 126 142 --- --- --- --- PASS C1orf43 25912 broad.mit.edu 37 1 154187017 154187017 + Missense_Mutation SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:154187017T>A uc001fei.2 - 3 592 c.202A>T c.(202-204)AGG>TGG p.R68W C1orf43_uc001fef.1_5'Flank|C1orf43_uc001feg.2_Missense_Mutation_p.R34W|C1orf43_uc001feh.2_Missense_Mutation_p.R34W|C1orf43_uc001fej.2_Missense_Mutation_p.R68W|C1orf43_uc009wos.1_Missense_Mutation_p.R68W|C1orf43_uc001fek.2_Missense_Mutation_p.R68W|C1orf43_uc001fel.2_Missense_Mutation_p.R34W NM_001098616 NP_001092086 Q9BWL3 CA043_HUMAN hypothetical protein LOC25912 isoform 3 68 integral to membrane coenzyme binding|oxidoreductase activity 0 all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877) TCCTGAACCCTGGAGAGTCGA 0.423 98 81 --- --- --- --- PASS PKLR 5313 broad.mit.edu 37 1 155265282 155265282 + Silent SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:155265282C>A uc001fkb.3 - 4 492 c.453G>T c.(451-453)GTG>GTT p.V151V RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Silent_p.V120V|PKLR_uc010pga.1_Silent_p.V87V NM_000298 NP_000289 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC isoform 1 151 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity skin(4)|ovary(1) 5 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) GGGCGATGGCCACGGGCCGGT 0.692 21 13 --- --- --- --- PASS ROBLD3 28956 broad.mit.edu 37 1 156027821 156027821 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:156027821C>A uc001fnb.3 + 3 448 c.284C>A c.(283-285)GCC>GAC p.A95D ROBLD3_uc010pgy.1_Intron NM_014017 NP_054736 Q9Y2Q5 LTOR2_HUMAN roadblock domain-containing protein 3 isoform 1 95 cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade lysosomal membrane|Ragulator complex 0 TGTATGTATGCCAAGGAGACC 0.562 90 90 --- --- --- --- PASS NTRK1 4914 broad.mit.edu 37 1 156843688 156843688 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:156843688G>T uc001fqh.1 + 8 1170 c.1114G>T c.(1114-1116)GCC>TCC p.A372S NTRK1_uc001fqf.1_Missense_Mutation_p.A342S|NTRK1_uc009wsi.1_Missense_Mutation_p.A77S|NTRK1_uc001fqi.1_Missense_Mutation_p.A372S|NTRK1_uc009wsk.1_Missense_Mutation_p.A372S NM_002529 NP_002520 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 372 Extracellular (Potential). activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(9)|ovary(6)|stomach(1)|central_nervous_system(1) 17 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CCAGGCCTCCGCCTCCATCAT 0.652 T TPM3|TPR|TFG papillary thyroid TSP Lung(10;0.080) 9 9 --- --- --- --- PASS NTRK1 4914 broad.mit.edu 37 1 156845871 156845871 + Splice_Site SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:156845871G>T uc001fqh.1 + 13 1558 c.1502_splice c.e13-1 p.C501_splice NTRK1_uc001fqf.1_Splice_Site_p.C465_splice|NTRK1_uc009wsi.1_Splice_Site_p.C200_splice|NTRK1_uc001fqi.1_Splice_Site_p.C495_splice|NTRK1_uc009wsk.1_Missense_Mutation_p.G498C NM_002529 NP_002520 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(9)|ovary(6)|stomach(1)|central_nervous_system(1) 17 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) AGCCCCCTCAGGTGTTCACCA 0.557 T TPM3|TPR|TFG papillary thyroid TSP Lung(10;0.080) 53 208 --- --- --- --- PASS OR10X1 128367 broad.mit.edu 37 1 158549355 158549355 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:158549355C>T uc010pin.1 - 1 335 c.335G>A c.(334-336)GGT>GAT p.G112D NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, 112 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TAAGCTACAACCTGTGACTGA 0.488 22 75 --- --- --- --- PASS OR6K3 391114 broad.mit.edu 37 1 158687440 158687440 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:158687440G>C uc010pip.1 - 1 514 c.514C>G c.(514-516)CTG>GTG p.L172V NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, 172 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(112;0.0378) TCGGGAAGCAGGATAAGGAAA 0.522 39 130 --- --- --- --- PASS IFI16 3428 broad.mit.edu 37 1 158988388 158988388 + Missense_Mutation SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:158988388C>G uc001ftf.1 + 6 1526 c.919C>G c.(919-921)CTT>GTT p.L307V IFI16_uc001ftg.2_Missense_Mutation_p.L307V|IFI16_uc010pis.1_Missense_Mutation_p.L251V NM_005531 NP_005522 Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 307 HIN-200 1. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) GATTGATATTCTTCACAAACA 0.353 44 146 --- --- --- --- PASS SLAMF1 6504 broad.mit.edu 37 1 160607207 160607207 + Silent SNP G T T rs35824111 TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:160607207G>T uc001fwl.3 - 2 535 c.189C>A c.(187-189)GTC>GTA p.V63V SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA|SLAMF1_uc001fwm.2_Silent_p.V63V NM_003037 NP_003028 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family 63 Extracellular (Potential). interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity ovary(1)|breast(1) 2 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CCATTGTGACGACAATGTGGA 0.463 33 119 --- --- --- --- PASS OLFML2B 25903 broad.mit.edu 37 1 161967994 161967994 + Silent SNP G A A rs34123330 byFrequency TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:161967994G>A uc001gbu.2 - 6 1519 c.1095C>T c.(1093-1095)AAC>AAT p.N365N OLFML2B_uc010pkq.1_Silent_p.N366N NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 365 skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) CGGTCCGAGCGTTCAGGTCGC 0.612 74 305 --- --- --- --- PASS C1orf226 400793 broad.mit.edu 37 1 162351745 162351745 + Silent SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:162351745C>T uc001gby.2 + 1 226 c.54C>T c.(52-54)TCC>TCT p.S18S C1orf226_uc010pkt.1_Silent_p.S61S NM_001085375 NP_001078844 A1L170 CA226_HUMAN hypothetical protein LOC400793 isoform 2 18 ovary(1) 1 CCAGCCGCTCCTTCCCCCACT 0.622 16 48 --- --- --- --- PASS NUF2 83540 broad.mit.edu 37 1 163297351 163297351 + Missense_Mutation SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:163297351T>A uc001gcq.1 + 3 497 c.197T>A c.(196-198)ATG>AAG p.M66K NUF2_uc001gcp.2_Missense_Mutation_p.M66K|NUF2_uc001gcr.1_Missense_Mutation_p.M66K|NUF2_uc009wvc.1_Missense_Mutation_p.M66K NM_145697 NP_663735 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 66 Interaction with the N-terminus of NDC80. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding ovary(3)|skin(1) 4 all_hematologic(923;0.101) CATTTTTACATGGTGAGTTTA 0.348 29 150 --- --- --- --- PASS SLC9A11 284525 broad.mit.edu 37 1 173493188 173493188 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:173493188T>C uc001giz.2 - 21 2983 c.2560A>G c.(2560-2562)ATC>GTC p.I854V SLC9A11_uc009wwe.2_Missense_Mutation_p.I412V NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 854 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 GGGGGTGGGATTGCCTTTGGA 0.289 71 66 --- --- --- --- PASS TNN 63923 broad.mit.edu 37 1 175066586 175066586 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:175066586G>T uc001gkl.1 + 8 1735 c.1622G>T c.(1621-1623)CGG>CTG p.R541L TNN_uc010pmx.1_Intron NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 541 Fibronectin type-III 4. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GTGACTGACCGGGTGACTGAG 0.507 51 67 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175335165 175335165 + Silent SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:175335165G>T uc001gkp.1 - 9 2244 c.2163C>A c.(2161-2163)ACC>ACA p.T721T TNR_uc009wwu.1_Silent_p.T721T NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 721 Fibronectin type-III 5. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) CAGAGGATGGGGTAAAGGTAA 0.552 28 141 --- --- --- --- PASS SEC16B 89866 broad.mit.edu 37 1 177933402 177933402 + Silent SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:177933402C>T uc001gli.1 - 5 636 c.546G>A c.(544-546)AGG>AGA p.R182R SEC16B_uc001glk.1_5'UTR|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001glj.1_Silent_p.R182R|SEC16B_uc001gll.3_Silent_p.R182R NM_033127 NP_149118 Q96JE7 SC16B_HUMAN leucine zipper transcription regulator 2 182 Required for endoplasmic reticulum localization. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane ovary(3)|central_nervous_system(1) 4 TACAAGGGTTCCTACTGTTAG 0.572 27 38 --- --- --- --- PASS CACNA1E 777 broad.mit.edu 37 1 181726098 181726098 + Nonsense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:181726098C>T uc001gow.2 + 30 4330 c.4165C>T c.(4165-4167)CGA>TGA p.R1389* CACNA1E_uc009wxs.2_Nonsense_Mutation_p.R1277*|CACNA1E_uc001gox.1_Nonsense_Mutation_p.R615*|CACNA1E_uc009wxt.2_Nonsense_Mutation_p.R615* NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1389 Extracellular (Potential).|III. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 AGAGGAAGACCGAGGCCCAAG 0.478 8 222 --- --- --- --- PASS CACNA1E 777 broad.mit.edu 37 1 181767480 181767480 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:181767480C>A uc001gow.2 + 47 6488 c.6323C>A c.(6322-6324)ACC>AAC p.T2108N CACNA1E_uc009wxs.2_Missense_Mutation_p.T1996N|CACNA1E_uc009wxt.2_Missense_Mutation_p.T1377N NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 2151 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 GACACCAGCACCCCAAGAAGA 0.592 104 121 --- --- --- --- PASS C1orf26 54823 broad.mit.edu 37 1 185144061 185144061 + Missense_Mutation SNP A T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:185144061A>T uc001grg.3 + 5 896 c.782A>T c.(781-783)AAG>ATG p.K261M C1orf26_uc001grh.3_Missense_Mutation_p.K261M NM_001105518 NP_001098988 Q5T5J6 SWT1_HUMAN hypothetical protein LOC54823 261 0 AATAATTCGAAGACTAAGCAG 0.353 110 108 --- --- --- --- PASS ASPM 259266 broad.mit.edu 37 1 197070783 197070783 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:197070783G>A uc001gtu.2 - 18 7855 c.7598C>T c.(7597-7599)TCT>TTT p.S2533F ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.S381F NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2533 IQ 27. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 AACCACAGCAGAATGCCATTG 0.343 56 202 --- --- --- --- PASS ASPM 259266 broad.mit.edu 37 1 197072005 197072005 + Missense_Mutation SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:197072005T>A uc001gtu.2 - 18 6633 c.6376A>T c.(6376-6378)ATG>TTG p.M2126L ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2126 IQ 17. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 ATTTTAAACATGGCTTTAATA 0.323 57 244 --- --- --- --- PASS PTPRC 5788 broad.mit.edu 37 1 198704280 198704280 + Missense_Mutation SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:198704280T>A uc001gur.1 + 23 2476 c.2296T>A c.(2296-2298)TCA>ACA p.S766T PTPRC_uc001gus.1_Missense_Mutation_p.S718T|PTPRC_uc001gut.1_Missense_Mutation_p.S605T|PTPRC_uc010ppg.1_Missense_Mutation_p.S702T NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 766 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 ATACTGGCCGTCAATGGAAGA 0.308 28 67 --- --- --- --- PASS CD34 947 broad.mit.edu 37 1 208084408 208084408 + Silent SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:208084408G>A uc001hgw.1 - 1 276 c.18C>T c.(16-18)GGC>GGT p.G6G CD34_uc001hgx.1_Silent_p.G6G|CD34_uc010psj.1_5'UTR NM_001025109 NP_001020280 P28906 CD34_HUMAN CD34 antigen isoform a 6 cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding ovary(1) 1 CTGCGCGCGCGCCCCTGCGGA 0.617 6 8 --- --- --- --- PASS KCNH1 3756 broad.mit.edu 37 1 211192446 211192446 + Nonsense_Mutation SNP A T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:211192446A>T uc001hib.2 - 6 881 c.711T>A c.(709-711)TAT>TAA p.Y237* KCNH1_uc001hic.2_Nonsense_Mutation_p.Y237* NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 237 Helical; Name=Segment S1; (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) AGGAGACATTATAAGGGACCA 0.413 37 128 --- --- --- --- PASS KCNH1 3756 broad.mit.edu 37 1 211276913 211276913 + Missense_Mutation SNP T A A rs148218711 by1000genomes TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:211276913T>A uc001hib.2 - 3 405 c.235A>T c.(235-237)ACG>TCG p.T79S KCNH1_uc001hic.2_Missense_Mutation_p.T79S NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 79 Cytoplasmic (Potential).|PAS. myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TTTTCAATCGTGTCTTTATCA 0.308 60 68 --- --- --- --- PASS CENPF 1063 broad.mit.edu 37 1 214817978 214817978 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:214817978G>T uc001hkm.2 + 13 5239 c.5065G>T c.(5065-5067)GAT>TAT p.D1689Y NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 1785 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) ACCAAAGCATGATGTTCATCA 0.388 40 117 --- --- --- --- PASS SNAP47 116841 broad.mit.edu 37 1 227954784 227954784 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:227954784G>T uc001hrf.2 + 4 1662 c.1248G>T c.(1246-1248)CAG>CAT p.Q416H SNAP47_uc001hqz.2_Missense_Mutation_p.Q371H|SNAP47_uc001hra.2_Missense_Mutation_p.Q174H|SNAP47_uc001hrd.2_Missense_Mutation_p.Q416H|SNAP47_uc001hre.2_Missense_Mutation_p.Q174H NM_053052 NP_444280 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa 416 t-SNARE coiled-coil homology 2. endomembrane system|membrane|perinuclear region of cytoplasm ovary(1) 1 AACTAACCCAGGTAAGATGTC 0.602 13 50 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228431117 228431117 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:228431117G>A uc009xez.1 + 10 3207 c.3163G>A c.(3163-3165)GAG>AAG p.E1055K OBSCN_uc001hsn.2_Missense_Mutation_p.E1055K NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1055 Ig-like 10. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CTACAGCTGCGAGGCCAGGGG 0.552 29 25 --- --- --- --- PASS SIPA1L2 57568 broad.mit.edu 37 1 232600813 232600813 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:232600813C>A uc001hvg.2 - 7 2751 c.2593G>T c.(2593-2595)GGC>TGC p.G865C SIPA1L2_uc001hvf.2_5'Flank NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 865 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GCAGACTGGCCGAAGTCCCGG 0.478 64 63 --- --- --- --- PASS ARID4B 51742 broad.mit.edu 37 1 235331886 235331886 + Nonsense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:235331886G>C uc001hwq.2 - 24 4391 c.3893C>G c.(3892-3894)TCA>TGA p.S1298* ARID4B_uc001hwr.2_Nonsense_Mutation_p.S1212*|ARID4B_uc001hwp.2_RNA NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 1298 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) GCTGGACATTGACGGTTCAGC 0.463 50 64 --- --- --- --- PASS LYST 1130 broad.mit.edu 37 1 235973326 235973326 + Missense_Mutation SNP T G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:235973326T>G uc001hxj.2 - 5 967 c.792A>C c.(790-792)TTA>TTC p.L264F LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.L264F NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 264 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) CTTTTTCTAATAAAGATAACA 0.388 Chediak-Higashi_syndrome 60 56 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237617769 237617769 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:237617769G>T uc001hyl.1 + 15 1491 c.1371G>T c.(1369-1371)CAG>CAT p.Q457H NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 457 Cytoplasmic (By similarity). 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 ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 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) TAAGTCTGCAGGATCTCATTG 0.463 53 63 --- --- --- --- PASS MAP1LC3C 440738 broad.mit.edu 37 1 242161836 242161836 + Silent SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:242161836G>T uc001hzk.2 - 3 276 c.201C>A c.(199-201)ACC>ACA p.T67T NM_001004343 NP_001004343 Q9BXW4 MLP3C_HUMAN microtubule-associated protein 1 light chain 3 67 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(106;0.0188) TGAGGAACTGGGTCATGGTCA 0.622 OREG0014354 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 85 75 --- --- --- --- PASS ZNF695 57116 broad.mit.edu 37 1 247150705 247150705 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:247150705C>A uc009xgu.2 - 4 1257 c.1112G>T c.(1111-1113)AGG>ATG p.R371M ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron NM_020394 NP_065127 Q8IW36 ZN695_HUMAN zinc finger protein SBZF3 371 C2H2-type 8. regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) ATGAATTCTCCTATGTTCAGT 0.393 7 68 --- --- --- --- PASS NLRP3 114548 broad.mit.edu 37 1 247587425 247587425 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:247587425C>A uc001icr.2 + 5 818 c.680C>A c.(679-681)GCG>GAG p.A227E NLRP3_uc001ics.2_Missense_Mutation_p.A227E|NLRP3_uc001icu.2_Missense_Mutation_p.A227E|NLRP3_uc001icw.2_Missense_Mutation_p.A227E|NLRP3_uc001icv.2_Missense_Mutation_p.A227E|NLRP3_uc010pyw.1_Missense_Mutation_p.A225E|NLRP3_uc001ict.1_Missense_Mutation_p.A225E NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 227 ATP (Potential).|NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TTCCAGGGGGCGGCAGGGATT 0.537 56 49 --- --- --- --- PASS OR6F1 343169 broad.mit.edu 37 1 247875890 247875890 + Silent SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:247875890A>G uc001idj.1 - 1 168 c.168T>C c.(166-168)CAT>CAC p.H56H NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 56 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) ACATGGGGGTATGCAACTGAT 0.483 104 102 --- --- --- --- PASS OR1C1 26188 broad.mit.edu 37 1 247921036 247921036 + Missense_Mutation SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:247921036C>G uc010pza.1 - 1 673 c.673G>C c.(673-675)GTT>CTT p.V225L NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 225 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) ATCTTCAGAACAGTGGAGAAG 0.498 36 39 --- --- --- --- PASS OR2T4 127074 broad.mit.edu 37 1 248524899 248524899 + Nonsense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:248524899G>A uc001ieh.1 + 1 17 c.17G>A c.(16-18)TGG>TAG p.W6* NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 6 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AACATCACCTGGATGGCCAGC 0.473 28 87 --- --- --- --- PASS OR2G6 391211 broad.mit.edu 37 1 248685150 248685150 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr1:248685150G>T uc001ien.1 + 1 203 c.203G>T c.(202-204)TGT>TTT p.C68F NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 68 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AACCTCTCGTGTGTGGACATC 0.507 95 75 --- --- --- --- PASS ALLC 55821 broad.mit.edu 37 2 3730597 3730597 + Silent SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:3730597C>A uc010ewt.2 + 7 605 c.444C>A c.(442-444)TCC>TCA p.S148S NM_018436 NP_060906 Q8N6M5 ALLC_HUMAN allantoicase isoform a 167 allantoicase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) ACCCTGCTTCCGGCCACAACT 0.433 HNSCC(21;0.051) 101 107 --- --- --- --- PASS TRIB2 28951 broad.mit.edu 37 2 12863631 12863631 + Silent SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:12863631G>T uc002rbv.3 + 2 1952 c.516G>T c.(514-516)GTG>GTT p.V172V TRIB2_uc010yjp.1_Silent_p.V36V NM_021643 NP_067675 Q92519 TRIB2_HUMAN tribbles homolog 2 172 Protein kinase. negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity stomach(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GGGGGCTGGTGCTGCGGGACC 0.577 55 73 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21256232 21256232 + Silent SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:21256232G>A uc002red.2 - 9 1191 c.1063C>T c.(1063-1065)CTG>TTG p.L355L NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 355 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AGGCCTCTCAGCTCAGTAACC 0.428 63 67 --- --- --- --- PASS ATAD2B 54454 broad.mit.edu 37 2 24046409 24046409 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:24046409C>T uc002rek.3 - 16 2144 c.1850G>A c.(1849-1851)TGC>TAC p.C617Y ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rej.3_5'UTR NM_017552 NP_060022 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 617 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCTTCAGTGCACAGGGCCTT 0.463 13 74 --- --- --- --- PASS TCF23 150921 broad.mit.edu 37 2 27373020 27373020 + Silent SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:27373020G>T uc010ylg.1 + 2 252 c.252G>T c.(250-252)CGG>CGT p.R84R NM_175769 NP_786951 Q7RTU1 TCF23_HUMAN transcription factor 23 84 Basic motif (By similarity). cell differentiation|muscle organ development|regulation of transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATGCCGCGCGGGAGCGGAGCC 0.657 40 60 --- --- --- --- PASS CAD 790 broad.mit.edu 37 2 27460931 27460931 + Missense_Mutation SNP A T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:27460931A>T uc002rji.2 + 30 4898 c.4736A>T c.(4735-4737)GAG>GTG p.E1579V CAD_uc010eyw.2_Missense_Mutation_p.E1516V NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 1579 DHOase (dihydroorotase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CAGCATTTCGAGACATGGCCC 0.572 38 38 --- --- --- --- PASS C2orf16 84226 broad.mit.edu 37 2 27801261 27801261 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:27801261C>A uc002rkz.3 + 1 1873 c.1822C>A c.(1822-1824)CCA>ACA p.P608T NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 608 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) GGAGTTAGCACCAGGACCAAT 0.413 7 48 --- --- --- --- PASS TTC27 55622 broad.mit.edu 37 2 32961770 32961770 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:32961770G>A uc002rom.2 + 12 1570 c.1339G>A c.(1339-1341)GCA>ACA p.A447T TTC27_uc010ymx.1_Missense_Mutation_p.A397T|TTC27_uc002ron.2_RNA NM_017735 NP_060205 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 447 TPR 1. protein binding central_nervous_system(1) 1 GCGCCAACTTGCAAGTTTGCT 0.378 47 61 --- --- --- --- PASS HEATR5B 54497 broad.mit.edu 37 2 37247018 37247018 + Silent SNP C A A rs141463798 by1000genomes TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:37247018C>A uc002rpp.1 - 26 4134 c.4038G>T c.(4036-4038)GTG>GTT p.V1346V NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1346 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) GAGCAGCTCCCACCTAGAAAA 0.234 32 39 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 51255264 51255264 + Missense_Mutation SNP A T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:51255264A>T uc010fbq.2 - 2 1625 c.148T>A c.(148-150)TGC>AGC p.C50S NRXN1_uc002rxe.3_Missense_Mutation_p.C50S|NRXN1_uc002rxd.1_Missense_Mutation_p.C50S NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:Variant_position_missing_in_P58400_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TCGCTCTCGCAGCAGGCGTTC 0.667 5 7 --- --- --- --- PASS CCDC85A 114800 broad.mit.edu 37 2 56599485 56599485 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:56599485C>A uc002rzn.2 + 4 1826 c.1324C>A c.(1324-1326)CAG>AAG p.Q442K NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 442 Potential. breast(3)|ovary(2) 5 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TAAGGCCAGCCAGAATAGAAG 0.468 5 4 --- --- --- --- PASS LOXL3 84695 broad.mit.edu 37 2 74761091 74761091 + Silent SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:74761091T>A uc002smp.1 - 13 2178 c.2106A>T c.(2104-2106)GCA>GCT p.A702A LOXL3_uc002smo.1_Silent_p.A341A|LOXL3_uc010ffm.1_Silent_p.A646A|LOXL3_uc002smq.1_Silent_p.A557A|LOXL3_uc010ffn.1_Silent_p.A557A NM_032603 NP_115992 P58215 LOXL3_HUMAN lysyl oxidase-like 3 precursor 702 Lysyl-oxidase like. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity 0 AGTCACTCTCTGCTACTTCAA 0.438 29 125 --- --- --- --- PASS MRPL19 9801 broad.mit.edu 37 2 75874310 75874310 + Silent SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:75874310C>T uc002snl.2 + 2 211 c.186C>T c.(184-186)ATC>ATT p.I62I MRPL19_uc002snm.1_Silent_p.I62I NM_014763 NP_055578 P49406 RM19_HUMAN mitochondrial ribosomal protein L19 precursor 62 translation mitochondrion|nuclear membrane|ribosome structural constituent of ribosome 0 AACCGGTCATCGTGGACAAGC 0.721 6 5 --- --- --- --- PASS ADRA2B 151 broad.mit.edu 37 2 96781414 96781414 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:96781414G>A uc002svi.2 - 1 475 c.475C>T c.(475-477)CGC>TGC p.R159C NM_000682 NP_000673 P18089 ADA2B_HUMAN alpha-2B-adrenergic receptor 159 Extracellular (By similarity). activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding ovary(2)|lung(1) 3 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) GGGCGCCCGCGCGGCTGGGGG 0.632 26 37 --- --- --- --- PASS AFF3 3899 broad.mit.edu 37 2 100170906 100170906 + Silent SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:100170906C>A uc002tag.2 - 23 3662 c.3426G>T c.(3424-3426)CTG>CTT p.L1142L AFF3_uc002taf.2_Silent_p.L1167L NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 1142 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 TCGACGGGGACAGGGCGCTGG 0.652 71 38 --- --- --- --- PASS C2orf29 55571 broad.mit.edu 37 2 101881431 101881431 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:101881431G>T uc002taw.3 + 4 1039 c.957G>T c.(955-957)AAG>AAT p.K319N NM_017546 NP_060016 Q9UKZ1 CB029_HUMAN hypothetical protein LOC55571 319 cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening cytosol ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 TGTGTGTTAAGAATAGCACTG 0.483 4 127 --- --- --- --- PASS ANAPC1 64682 broad.mit.edu 37 2 112604762 112604762 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:112604762C>T uc002thi.2 - 16 2052 c.1805G>A c.(1804-1806)GGC>GAC p.G602D NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 602 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 AACCATGGAGCCATTACTCAG 0.348 59 26 --- --- --- --- PASS IL1B 3553 broad.mit.edu 37 2 113591131 113591131 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:113591131G>T uc002tii.1 - 4 208 c.121C>A c.(121-123)CTC>ATC p.L41I IL1B_uc002tih.1_Missense_Mutation_p.L10I NM_000576 NP_000567 P01584 IL1B_HUMAN interleukin 1, beta proprotein 41 activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation cytosol|extracellular space cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding lung(3)|breast(1) 4 Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366) AGAGGGCAGAGGTCCAGGTCC 0.597 43 108 --- --- --- --- PASS TMEM37 140738 broad.mit.edu 37 2 120194773 120194773 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:120194773G>T uc002tly.2 + 2 364 c.330G>T c.(328-330)ATG>ATT p.M110I NM_183240 NP_899063 Q8WXS4 CCGL_HUMAN transmembrane protein 37 110 Helical; (Potential). integral to membrane calcium channel activity|voltage-gated ion channel activity breast(1) 1 AGTTCCTCATGGTGTCCCAGT 0.652 144 60 --- --- --- --- PASS MYO7B 4648 broad.mit.edu 37 2 128324316 128324316 + Silent SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:128324316C>T uc002top.2 + 5 437 c.384C>T c.(382-384)GGC>GGT p.G128G NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 128 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GCCATATGGGCGAGCTGCCCC 0.587 27 14 --- --- --- --- PASS SAP130 79595 broad.mit.edu 37 2 128775365 128775365 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:128775365C>A uc002tpp.2 - 3 447 c.315G>T c.(313-315)CAG>CAT p.Q105H SAP130_uc002tpo.2_5'Flank|SAP130_uc010fmd.2_Missense_Mutation_p.Q105H|SAP130_uc002tpq.1_Missense_Mutation_p.Q79H NM_024545 NP_078821 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa isoform b 105 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(2)|skin(2) 4 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) TCGACAACATCTGCACCTGTG 0.587 130 48 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141202228 141202228 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:141202228C>A uc002tvj.1 - 64 11050 c.10078G>T c.(10078-10080)GGC>TGC p.G3360C NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3360 Extracellular (Potential).|LDL-receptor class A 22. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGAAATCGGCCTGGCTGACAT 0.423 TSP Lung(27;0.18) 73 32 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141986915 141986915 + Silent SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:141986915T>A uc002tvj.1 - 6 1659 c.687A>T c.(685-687)TCA>TCT p.S229S LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 229 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTCCATTGACTGAGCTTAGAG 0.303 TSP Lung(27;0.18) 39 36 --- --- --- --- PASS KYNU 8942 broad.mit.edu 37 2 143787241 143787241 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:143787241G>A uc002tvl.2 + 11 1078 c.948G>A c.(946-948)ATG>ATA p.M316I KYNU_uc010fnm.2_Missense_Mutation_p.M316I NM_003937 NP_003928 Q16719 KYNU_HUMAN kynureninase (L-kynurenine hydrolase) isoform a 316 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity skin(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) GATTTAAGATGGATAACAGTA 0.279 40 88 --- --- --- --- PASS ZEB2 9839 broad.mit.edu 37 2 145157325 145157325 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:145157325C>A uc002tvu.2 - 8 1909 c.1429G>T c.(1429-1431)GAC>TAC p.D477Y ZEB2_uc002tvv.2_Missense_Mutation_p.D471Y|ZEB2_uc010zbm.1_Missense_Mutation_p.D448Y|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.D506Y NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 477 SMAD-MH2 binding domain (By similarity). cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) GCCTTGCAGTCCATTTTTTGC 0.413 80 69 --- --- --- --- PASS SCN3A 6328 broad.mit.edu 37 2 165997167 165997167 + Silent SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:165997167G>T uc002ucx.2 - 13 2505 c.2013C>A c.(2011-2013)CCC>CCA p.P671P SCN3A_uc002ucy.2_Intron|SCN3A_uc002ucz.2_Intron|SCN3A_uc002uda.1_Intron|SCN3A_uc002udb.1_Intron NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 671 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) TCACCTCTGGGGGAAGTTGTC 0.473 44 31 --- --- --- --- PASS TTC21B 79809 broad.mit.edu 37 2 166740350 166740350 + Missense_Mutation SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:166740350T>A uc002udk.2 - 26 3771 c.3638A>T c.(3637-3639)TAT>TTT p.Y1213F TTC21B_uc002udj.1_RNA NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 1213 TPR 17. cilium axoneme|cytoplasm|cytoskeleton binding ovary(2)|pancreas(2)|breast(1) 5 TGCCATGTCATATTTTGCTGA 0.373 69 34 --- --- --- --- PASS SCN7A 6332 broad.mit.edu 37 2 167279930 167279930 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:167279930T>C uc002udu.1 - 18 2993 c.2866A>G c.(2866-2868)ATA>GTA p.I956V SCN7A_uc010fpm.1_RNA NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 956 Helical; Name=S1 of repeat III; (By similarity). muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 TCCATATATATATCTTCAAAA 0.284 14 9 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168107333 168107333 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:168107333C>A uc002udx.2 + 8 9449 c.9431C>A c.(9430-9432)TCC>TAC p.S3144Y XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S2969Y|XIRP2_uc010fpq.2_Missense_Mutation_p.S2922Y|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2969 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CTTTCTCAGTCCCCTAAAAAG 0.468 101 55 --- --- --- --- PASS NOSTRIN 115677 broad.mit.edu 37 2 169707637 169707637 + Missense_Mutation SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:169707637A>G uc002ueg.2 + 9 678 c.674A>G c.(673-675)AAT>AGT p.N225S NOSTRIN_uc002uef.2_Missense_Mutation_p.N282S|NOSTRIN_uc002uei.2_Missense_Mutation_p.N108S|NOSTRIN_uc010fpu.2_Missense_Mutation_p.N197S|NOSTRIN_uc002ueh.2_Missense_Mutation_p.N147S|NOSTRIN_uc002uej.2_Missense_Mutation_p.N108S NM_001039724 NP_001034813 Q8IVI9 NOSTN_HUMAN nitric oxide synthase trafficker isoform 2 225 endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane protein binding 0 CTTTTATGCAATAACTTAAAC 0.398 73 52 --- --- --- --- PASS DFNB59 494513 broad.mit.edu 37 2 179325139 179325139 + Silent SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:179325139G>C uc002umi.3 + 6 1088 c.732G>C c.(730-732)CTG>CTC p.L244L DFNB59_uc002umj.3_Silent_p.L244L NM_001042702 NP_001036167 Q0ZLH3 PJVK_HUMAN deafness, autosomal recessive 59 244 sensory perception of sound 0 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) CATTTGCACTGCTGTACAGGT 0.338 52 23 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179411946 179411946 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:179411946C>T uc010zfg.1 - 289 86826 c.86602G>A c.(86602-86604)GGT>AGT p.G28868S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G22563S|TTN_uc010zfi.1_Missense_Mutation_p.G22496S|TTN_uc010zfj.1_Missense_Mutation_p.G22371S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29795 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTACTGCCACCATCGTGGTAG 0.438 105 76 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179413505 179413505 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:179413505G>T uc010zfg.1 - 288 85368 c.85144C>A c.(85144-85146)CAA>AAA p.Q28382K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q22077K|TTN_uc010zfi.1_Missense_Mutation_p.Q22010K|TTN_uc010zfj.1_Missense_Mutation_p.Q21885K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29309 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTCTACCTTGGTAGGCAATG 0.478 68 34 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179429564 179429564 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:179429564C>T uc010zfg.1 - 275 73815 c.73591G>A c.(73591-73593)GAT>AAT p.D24531N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D18226N|TTN_uc010zfi.1_Missense_Mutation_p.D18159N|TTN_uc010zfj.1_Missense_Mutation_p.D18034N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 25458 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTGCCTCCATCATTCACTGGC 0.393 18 39 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179442567 179442567 + Missense_Mutation SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:179442567C>G uc010zfg.1 - 272 61106 c.60882G>C c.(60880-60882)TGG>TGC p.W20294C uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.W13989C|TTN_uc010zfi.1_Missense_Mutation_p.W13922C|TTN_uc010zfj.1_Missense_Mutation_p.W13797C|uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 21221 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TAGGTTCAGTCCAAATGAGAG 0.373 48 32 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179466840 179466840 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:179466840G>T uc010zfg.1 - 233 47678 c.47454C>A c.(47452-47454)GAC>GAA p.D15818E uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D9513E|TTN_uc010zfi.1_Missense_Mutation_p.D9446E|TTN_uc010zfj.1_Missense_Mutation_p.D9321E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16745 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAACCAGACAGTCCTGTGCTC 0.393 71 31 --- --- --- --- PASS COQ10B 80219 broad.mit.edu 37 2 198327404 198327404 + Silent SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:198327404G>T uc002uuh.1 + 3 450 c.396G>T c.(394-396)GTG>GTT p.V132V COQ10B_uc010fsl.1_Silent_p.V104V NM_025147 NP_079423 Q9H8M1 CQ10B_HUMAN coenzyme Q10 homolog B precursor 132 mitochondrial inner membrane 0 Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246) TTCCACCTGTGTTGGAGCGAT 0.308 101 47 --- --- --- --- PASS STRADB 55437 broad.mit.edu 37 2 202337718 202337718 + Silent SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:202337718G>A uc002uyd.3 + 5 599 c.234G>A c.(232-234)CGG>CGA p.R78R NM_018571 NP_061041 Q9C0K7 STRAB_HUMAN STE20-related kinase adaptor beta 78 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|protein binding|protein kinase activity skin(2)|stomach(1)|lung(1) 4 ATCTTGCACGGCATACTCCCA 0.323 124 68 --- --- --- --- PASS PARD3B 117583 broad.mit.edu 37 2 206023449 206023449 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:206023449G>A uc002var.1 + 11 1645 c.1438G>A c.(1438-1440)GGA>AGA p.G480R PARD3B_uc010fub.1_Missense_Mutation_p.G480R|PARD3B_uc002vao.1_Missense_Mutation_p.G480R|PARD3B_uc002vap.1_Intron|PARD3B_uc002vaq.1_Missense_Mutation_p.G480R NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 480 cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CTAACAGAAAGGAGAACCTGA 0.478 129 105 --- --- --- --- PASS DYTN 391475 broad.mit.edu 37 2 207583001 207583001 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:207583001C>T uc002vbr.1 - 1 120 c.3G>A c.(1-3)ATG>ATA p.M1I NM_001093730 NP_001087199 A2CJ06 DYTN_HUMAN dystrotelin 1 plasma membrane zinc ion binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TATCTGGATCCATTTCACAAA 0.373 17 13 --- --- --- --- PASS CXCR1 3577 broad.mit.edu 37 2 219029167 219029167 + Silent SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:219029167C>A uc002vhc.2 - 2 887 c.768G>T c.(766-768)CTG>CTT p.L256L NM_000634 NP_000625 P25024 CXCR1_HUMAN interleukin 8 receptor alpha 256 Helical; Name=6; (Potential). dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity lung(2) 2 GGTTGTAGGGCAGCCAGCAAA 0.597 13 196 --- --- --- --- PASS MRPL44 65080 broad.mit.edu 37 2 224822335 224822335 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:224822335G>T uc002vnr.3 + 1 215 c.146G>T c.(145-147)CGC>CTC p.R49L NM_022915 NP_075066 Q9H9J2 RM44_HUMAN mitochondrial ribosomal protein L44 precursor 49 RNA processing mitochondrion|ribosome double-stranded RNA binding|protein binding|ribonuclease III activity central_nervous_system(1) 1 all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008) GAGCGGCAGCGCCTTCTGCGG 0.697 13 8 --- --- --- --- PASS DOCK10 55619 broad.mit.edu 37 2 225653789 225653789 + Missense_Mutation SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:225653789A>G uc010fwz.1 - 48 5649 c.5410T>C c.(5410-5412)TAC>CAC p.Y1804H DOCK10_uc002vob.2_Missense_Mutation_p.Y1798H|DOCK10_uc002voa.2_Missense_Mutation_p.Y460H|DOCK10_uc002voc.2_Missense_Mutation_p.Y625H NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1804 DHR-2. GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) ACCTCATTGTATGGTGTATCT 0.403 14 23 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228884816 228884816 + Missense_Mutation SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:228884816C>G uc002vpq.2 - 7 801 c.754G>C c.(754-756)GCC>CCC p.A252P SPHKAP_uc002vpp.2_Missense_Mutation_p.A252P|SPHKAP_uc010zlx.1_Missense_Mutation_p.A252P NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 252 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) ACCTGGGTGGCTCCCTTTAGC 0.378 226 110 --- --- --- --- PASS XIRP1 165904 broad.mit.edu 37 3 39230709 39230709 + Missense_Mutation SNP A T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr3:39230709A>T uc003cjk.1 - 2 449 c.228T>A c.(226-228)GAT>GAA p.D76E XIRP1_uc003cji.2_Missense_Mutation_p.D76E|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 76 actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CCTCAGCCAGATCCTCGGCCA 0.597 15 27 --- --- --- --- PASS TGM4 7047 broad.mit.edu 37 3 44932107 44932107 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr3:44932107G>T uc003coc.3 + 4 386 c.313G>T c.(313-315)GTC>TTC p.V105F TGM4_uc003cob.2_RNA NM_003241 NP_003232 P49221 TGM4_HUMAN transglutaminase 4 (prostate) 105 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) CACAGTGGCTGTCACCAGTTC 0.473 52 39 --- --- --- --- PASS LAMB2 3913 broad.mit.edu 37 3 49160961 49160961 + Nonsense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr3:49160961C>A uc003cwe.2 - 25 4200 c.3901G>T c.(3901-3903)GAG>TAG p.E1301* USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank NM_002292 NP_002283 P55268 LAMB2_HUMAN laminin, beta 2 precursor 1301 Domain II.|Potential. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CTATCTCGCTCCAGACCACTT 0.502 51 35 --- --- --- --- PASS CCDC36 339834 broad.mit.edu 37 3 49293826 49293826 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr3:49293826C>A uc003cwk.2 + 10 1283 c.896C>A c.(895-897)GCC>GAC p.A299D CCDC36_uc011bck.1_Missense_Mutation_p.A299D NM_178173 NP_835467 Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 299 ovary(1)|kidney(1) 2 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) TTATGGCAGGCCCAGGCCCTC 0.522 16 16 --- --- --- --- PASS IQCF1 132141 broad.mit.edu 37 3 51937094 51937094 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr3:51937094C>A uc003dbv.2 - 2 113 c.15G>T c.(13-15)CAG>CAT p.Q5H IQCF1_uc003dbq.3_RNA NM_152397 NP_689610 Q8N6M8 IQCF1_HUMAN IQ motif containing F1 5 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TCTTTTGGGGCTGCTTCTCCT 0.537 144 120 --- --- --- --- PASS TWF2 11344 broad.mit.edu 37 3 52263188 52263188 + Silent SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr3:52263188C>A uc003ddd.2 - 9 1063 c.912G>T c.(910-912)ACG>ACT p.T304T TLR9_uc003ddb.2_Intron|TLR9_uc003ddc.1_Intron|TWF2_uc010hmc.2_3'UTR NM_007284 NP_009215 Q6IBS0 TWF2_HUMAN twinfilin-like protein 304 ADF-H 2. cytoskeleton|perinuclear region of cytoplasm actin binding|ATP binding stomach(1)|ovary(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GGAACTCTGCCGTCAGCTCTG 0.647 60 58 --- --- --- --- PASS PTPRG 5793 broad.mit.edu 37 3 62253411 62253411 + Missense_Mutation SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr3:62253411A>G uc003dlb.2 + 19 3510 c.2791A>G c.(2791-2793)ACA>GCA p.T931A PTPRG_uc003dlc.2_Missense_Mutation_p.T902A|PTPRG_uc011bfi.1_Missense_Mutation_p.T177A|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron NM_002841 NP_002832 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 931 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(5)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) TTTGAAGTCTACATTTGAAGA 0.398 63 84 --- --- --- --- PASS MORC1 27136 broad.mit.edu 37 3 108690217 108690217 + Missense_Mutation SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr3:108690217T>A uc003dxl.2 - 25 2597 c.2510A>T c.(2509-2511)CAG>CTG p.Q837L MORC1_uc011bhn.1_Missense_Mutation_p.Q816L NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 837 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 TGATGGTAGCTGATGCTCAGG 0.403 39 35 --- --- --- --- PASS DRD3 1814 broad.mit.edu 37 3 113890804 113890804 + Silent SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr3:113890804G>A uc003ebd.2 - 3 459 c.36C>T c.(34-36)AAC>AAT p.N12N DRD3_uc010hqn.1_Silent_p.N12N|DRD3_uc003ebb.1_Silent_p.N12N|DRD3_uc003ebc.1_Silent_p.N12N NM_000796 NP_000787 P35462 DRD3_HUMAN dopamine receptor D3 isoform a 12 Extracellular (Probable). activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) CACAGGTGTAGTTCAGGTGGC 0.577 8 5 --- --- --- --- PASS CD80 941 broad.mit.edu 37 3 119276494 119276494 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr3:119276494G>C uc003ecq.2 - 2 477 c.82C>G c.(82-84)CTT>GTT p.L28V CD80_uc010hqt.1_Missense_Mutation_p.L28V|CD80_uc010hqu.1_Missense_Mutation_p.L28V|CD80_uc003ecr.1_Missense_Mutation_p.L28V NM_005191 NP_005182 P33681 CD80_HUMAN CD80 antigen precursor 28 interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation intracellular coreceptor activity|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 Abatacept(DB01281) AAGTGAGAAAGACCAGCCAGC 0.493 11 33 --- --- --- --- PASS CD80 941 broad.mit.edu 37 3 119276533 119276533 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr3:119276533G>A uc003ecq.2 - 2 438 c.43C>T c.(43-45)CCA>TCA p.P15S CD80_uc010hqt.1_Missense_Mutation_p.P15S|CD80_uc010hqu.1_Missense_Mutation_p.P15S|CD80_uc003ecr.1_Missense_Mutation_p.P15S NM_005191 NP_005182 P33681 CD80_HUMAN CD80 antigen precursor 15 interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation intracellular coreceptor activity|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 Abatacept(DB01281) TTGAGGTATGGACACTTGGAT 0.478 12 35 --- --- --- --- PASS HEG1 57493 broad.mit.edu 37 3 124720847 124720847 + Silent SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr3:124720847G>A uc003ehs.3 - 11 3434 c.3366C>T c.(3364-3366)AAC>AAT p.N1122N HEG1_uc003ehr.3_Translation_Start_Site|HEG1_uc011bke.1_Silent_p.N1222N NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor 1122 Extracellular (Potential). extracellular region|integral to membrane calcium ion binding ovary(2) 2 TCACCACCGCGTTGGACTCCC 0.483 7 25 --- --- --- --- PASS PLXNA1 5361 broad.mit.edu 37 3 126726697 126726697 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr3:126726697G>A uc003ejg.2 + 8 1988 c.1984G>A c.(1984-1986)GTG>ATG p.V662M NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 685 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) ATACCGCCACGTGTGCACACA 0.627 27 52 --- --- --- --- PASS TMEM108 66000 broad.mit.edu 37 3 133099697 133099697 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr3:133099697C>T uc003eph.2 + 4 1416 c.1142C>T c.(1141-1143)ACA>ATA p.T381I TMEM108_uc003epi.2_Missense_Mutation_p.T381I|TMEM108_uc003epj.1_Missense_Mutation_p.T381I|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Missense_Mutation_p.T332I NM_023943 NP_076432 Q6UXF1 TM108_HUMAN transmembrane protein 108 precursor 381 Extracellular (Potential). integral to membrane ovary(2)|skin(2) 4 GGAGCATCCACAACCCCACAA 0.622 51 89 --- --- --- --- PASS PRR23B 389151 broad.mit.edu 37 3 138739091 138739091 + Missense_Mutation SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr3:138739091T>A uc003esy.1 - 1 678 c.413A>T c.(412-414)GAG>GTG p.E138V NM_001013650 NP_001013672 Q6ZRT6 PR23B_HUMAN proline rich 23B 138 breast(1) 1 GAATTCCAGCTCGACGACGAC 0.657 53 80 --- --- --- --- PASS CLSTN2 64084 broad.mit.edu 37 3 140281055 140281055 + Nonsense_Mutation SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr3:140281055T>A uc003etn.2 + 13 2307 c.2117T>A c.(2116-2118)TTG>TAG p.L706* NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 706 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 GGAGGGGACTTGGACCCAAGG 0.483 HNSCC(16;0.037) 45 90 --- --- --- --- PASS TRIM42 287015 broad.mit.edu 37 3 140397113 140397113 + Nonsense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr3:140397113G>A uc003eto.1 + 1 233 c.42G>A c.(40-42)TGG>TGA p.W14* NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 14 Cys-rich. intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 GTTGTACATGGCAGAGATGTT 0.512 134 194 --- --- --- --- PASS TRPC1 7220 broad.mit.edu 37 3 142455367 142455367 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr3:142455367G>A uc003evc.2 + 2 455 c.319G>A c.(319-321)GGT>AGT p.G107S TRPC1_uc003evb.2_Missense_Mutation_p.G107S NM_003304 NP_003295 P48995 TRPC1_HUMAN transient receptor potential cation channel, 107 ANK 2.|Cytoplasmic (Potential). axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 TTTGGACTACGGTTGTCAGGT 0.308 21 250 --- --- --- --- PASS SLC9A9 285195 broad.mit.edu 37 3 143297493 143297493 + Silent SNP C A A rs141404629 byFrequency TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr3:143297493C>A uc003evn.2 - 7 1010 c.828G>T c.(826-828)GGG>GGT p.G276G SLC9A9_uc011bnk.1_Silent_p.G150G NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 276 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 CCAGGAAATTCCCCACAGACT 0.468 35 84 --- --- --- --- PASS MED12L 116931 broad.mit.edu 37 3 151094642 151094642 + Missense_Mutation SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr3:151094642A>G uc003eyp.2 + 27 4041 c.4003A>G c.(4003-4005)AAA>GAA p.K1335E MED12L_uc011bnz.1_Missense_Mutation_p.K1195E|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.K498E NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 1335 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCTAATGATCAAACAGTGCTT 0.353 32 86 --- --- --- --- PASS PLCH1 23007 broad.mit.edu 37 3 155203429 155203429 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr3:155203429G>T uc011bok.1 - 22 2991 c.2714C>A c.(2713-2715)TCC>TAC p.S905Y PLCH1_uc011boj.1_Missense_Mutation_p.S905Y|PLCH1_uc011bol.1_Missense_Mutation_p.S867Y NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 905 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TACATAATGGGAATTGTTTTC 0.458 24 72 --- --- --- --- PASS PLCH1 23007 broad.mit.edu 37 3 155311743 155311743 + Missense_Mutation SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr3:155311743T>A uc011bok.1 - 3 698 c.421A>T c.(421-423)AGG>TGG p.R141W PLCH1_uc011boj.1_Missense_Mutation_p.R141W|PLCH1_uc011bol.1_Missense_Mutation_p.R123W NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 141 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TCATGGGTCCTCTGCCTTTTG 0.493 41 38 --- --- --- --- PASS LRRIQ4 344657 broad.mit.edu 37 3 169540420 169540420 + Silent SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr3:169540420G>C uc003fgb.2 + 1 711 c.711G>C c.(709-711)TCG>TCC p.S237S NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 237 LRR 10. 0 GCCAACTGTCGGTGCTCGATT 0.572 46 76 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G A A rs104886003 TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). 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.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 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) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 24 62 --- --- --- --- PASS USP13 8975 broad.mit.edu 37 3 179458136 179458136 + Missense_Mutation SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr3:179458136C>G uc003fkh.2 + 11 1437 c.1356C>G c.(1354-1356)TTC>TTG p.F452L USP13_uc003fkf.2_Missense_Mutation_p.F452L NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 452 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(1) 1 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) AGGAATTCTTCTTGCACCTGG 0.542 48 103 --- --- --- --- PASS CPZ 8532 broad.mit.edu 37 4 8613819 8613819 + Silent SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr4:8613819T>C uc003glm.2 + 8 1419 c.1293T>C c.(1291-1293)AAT>AAC p.N431N CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Silent_p.N294N|CPZ_uc003glo.2_Silent_p.N420N|CPZ_uc003glp.2_RNA NM_001014447 NP_001014447 Q66K79 CBPZ_HUMAN carboxypeptidase Z isoform 1 431 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2)|pancreas(1) 3 GGTCGGAGAATAGGTGTGGAG 0.502 20 18 --- --- --- --- PASS SLIT2 9353 broad.mit.edu 37 4 20598065 20598065 + Silent SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr4:20598065C>G uc003gpr.1 + 32 3552 c.3348C>G c.(3346-3348)CCC>CCG p.P1116P SLIT2_uc003gps.1_Silent_p.P1108P NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1116 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 TTTCTCCACCCATGGTCCTCC 0.393 31 35 --- --- --- --- PASS SHISA3 152573 broad.mit.edu 37 4 42403061 42403061 + Missense_Mutation SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr4:42403061T>A uc003gwp.2 + 2 528 c.310T>A c.(310-312)TCC>ACC p.S104T NM_001080505 NP_001073974 A0PJX4 SHSA3_HUMAN shisa homolog 3 precursor 104 Helical; (Potential). multicellular organismal development endoplasmic reticulum membrane|integral to membrane ovary(1)|skin(1) 2 CATCGTCGGCTCCATCTTCAT 0.498 84 75 --- --- --- --- PASS CWH43 80157 broad.mit.edu 37 4 49040053 49040053 + Missense_Mutation SNP A T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr4:49040053A>T uc003gyv.2 + 13 1841 c.1659A>T c.(1657-1659)GAA>GAT p.E553D CWH43_uc011bzl.1_Missense_Mutation_p.E526D NM_025087 NP_079363 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog 553 GPI anchor biosynthetic process integral to membrane skin(2)|ovary(1) 3 CATTTTTTAGAGATGACCTCG 0.348 97 79 --- --- --- --- PASS SLC4A4 8671 broad.mit.edu 37 4 72338609 72338609 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr4:72338609G>C uc003hfy.2 + 14 1942 c.1825G>C c.(1825-1827)GAT>CAT p.D609H SLC4A4_uc010iic.2_Missense_Mutation_p.D609H|SLC4A4_uc010iib.2_Missense_Mutation_p.D609H|SLC4A4_uc003hfz.2_Missense_Mutation_p.D609H|SLC4A4_uc003hgc.3_Missense_Mutation_p.D565H|SLC4A4_uc010iid.2_Intron|SLC4A4_uc003hga.2_Missense_Mutation_p.D487H|SLC4A4_uc003hgb.3_Missense_Mutation_p.D565H NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 609 Extracellular (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) CAAGCTTGCAGATTACTACCC 0.453 67 70 --- --- --- --- PASS SEC31A 22872 broad.mit.edu 37 4 83778278 83778278 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr4:83778278C>T uc003hnf.2 - 16 1872 c.1708G>A c.(1708-1710)GAT>AAT p.D570N SEC31A_uc003hne.2_Missense_Mutation_p.D303N|SEC31A_uc011ccl.1_Missense_Mutation_p.D531N|SEC31A_uc003hnl.2_Missense_Mutation_p.D531N|SEC31A_uc003hng.2_Missense_Mutation_p.D570N|SEC31A_uc003hnh.2_Missense_Mutation_p.D570N|SEC31A_uc003hni.2_Missense_Mutation_p.D570N|SEC31A_uc003hnj.2_Missense_Mutation_p.D531N|SEC31A_uc011ccm.1_Missense_Mutation_p.D565N|SEC31A_uc011ccn.1_Missense_Mutation_p.D570N|SEC31A_uc003hnk.2_Missense_Mutation_p.D531N|SEC31A_uc003hnm.2_Missense_Mutation_p.D570N|SEC31A_uc003hnn.1_Missense_Mutation_p.D570N NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 570 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/JAK2(4)|SEC31A/ALK(3) haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1) 8 Hepatocellular(203;0.114) ATTAAACCATCAATGTCTGCA 0.343 20 19 --- --- --- --- PASS PKD2 5311 broad.mit.edu 37 4 88973290 88973290 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr4:88973290G>T uc003hre.2 + 7 1762 c.1696G>T c.(1696-1698)GTA>TTA p.V566L PKD2_uc011cdf.1_5'UTR|PKD2_uc011cdg.1_5'UTR|PKD2_uc011cdh.1_5'UTR NM_000297 NP_000288 Q13563 PKD2_HUMAN polycystin 2 566 Helical; (Potential). basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity skin(1) 1 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) TGCTGTCACAGTATTTTTTGT 0.308 47 45 --- --- --- --- PASS PDHA2 5161 broad.mit.edu 37 4 96761453 96761453 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr4:96761453C>A uc003htr.3 + 1 215 c.152C>A c.(151-153)ACT>AAT p.T51N NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 51 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) CCCCCTGTCACTACAGTGCTC 0.478 17 22 --- --- --- --- PASS DAPP1 27071 broad.mit.edu 37 4 100784938 100784938 + Silent SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr4:100784938A>G uc003hvf.3 + 7 702 c.612A>G c.(610-612)CCA>CCG p.P204P DAPP1_uc011cek.1_3'UTR|DAPP1_uc010ilh.2_Silent_p.P204P NM_014395 NP_055210 Q9UN19 DAPP1_HUMAN dual adaptor of phosphotyrosine and 204 PH. signal transduction cytoplasm|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity 0 OV - Ovarian serous cystadenocarcinoma(123;7.04e-09) CACCAGAACCAATTCGGATCC 0.323 9 6 --- --- --- --- PASS FBXW7 55294 broad.mit.edu 37 4 153244198 153244198 + Silent SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr4:153244198C>G uc003ims.2 - 12 2108 c.1959G>C c.(1957-1959)ACG>ACC p.T653T FBXW7_uc011cii.1_Silent_p.T653T|FBXW7_uc003imt.2_Silent_p.T653T|FBXW7_uc011cih.1_Silent_p.T477T|FBXW7_uc003imq.2_Silent_p.T573T|FBXW7_uc003imr.2_Silent_p.T535T NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 653 WD 7. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding p.T653fs*8(1) haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TAAATTCACCCGTTTTCAAGT 0.463 Mis|N|D|F colorectal|endometrial|T-ALL 53 67 --- --- --- --- PASS FGG 2266 broad.mit.edu 37 4 155530895 155530895 + Nonsense_Mutation SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr4:155530895T>A uc003ioj.2 - 6 694 c.553A>T c.(553-555)AAG>TAG p.K185* FGG_uc003iog.2_Nonsense_Mutation_p.K185*|FGG_uc003ioh.2_Nonsense_Mutation_p.K193*|FGG_uc010ipx.2_Nonsense_Mutation_p.K13*|FGG_uc010ipy.2_5'UTR|FGG_uc003ioi.2_5'UTR|FGG_uc003iok.2_Nonsense_Mutation_p.K193* NM_021870 NP_068656 P02679 FIBG_HUMAN fibrinogen, gamma chain isoform gamma-B 185 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding 0 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) TTAGCTCCCTTATTGGCAATG 0.403 42 43 --- --- --- --- PASS FSTL5 56884 broad.mit.edu 37 4 162376272 162376272 + Silent SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr4:162376272G>T uc003iqh.2 - 15 2161 c.1725C>A c.(1723-1725)ACC>ACA p.T575T FSTL5_uc003iqi.2_Silent_p.T574T|FSTL5_uc010iqv.2_Silent_p.T565T NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 575 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CACTGGCCAGGGTAATTACCT 0.408 24 20 --- --- --- --- PASS SPOCK3 50859 broad.mit.edu 37 4 167833857 167833857 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr4:167833857C>A uc003iri.1 - 6 538 c.397G>T c.(397-399)GGT>TGT p.G133C SPOCK3_uc011cjp.1_Missense_Mutation_p.G130C|SPOCK3_uc011cjq.1_Missense_Mutation_p.G142C|SPOCK3_uc011cjr.1_Missense_Mutation_p.G13C|SPOCK3_uc003irj.1_Missense_Mutation_p.G130C|SPOCK3_uc011cjs.1_Missense_Mutation_p.G82C|SPOCK3_uc011cjt.1_Missense_Mutation_p.G41C|SPOCK3_uc011cju.1_Missense_Mutation_p.G26C|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.3_Missense_Mutation_p.G130C|SPOCK3_uc011cjw.1_Intron NM_016950 NP_058646 Q9BQ16 TICN3_HUMAN testican 3 isoform 2 133 Kazal-like. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) AATATGGGACCCCTCCACTGC 0.398 23 38 --- --- --- --- PASS TRIML2 205860 broad.mit.edu 37 4 189012776 189012776 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr4:189012776G>C uc003izl.2 - 7 951 c.915C>G c.(913-915)TTC>TTG p.F305L TRIML2_uc003izj.1_Missense_Mutation_p.F133L|TRIML2_uc003izk.1_Missense_Mutation_p.F113L|TRIML2_uc011cle.1_Missense_Mutation_p.F380L NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 305 B30.2/SPRY. ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) TCAGAGGGGGGAAGACCCAGA 0.562 94 102 --- --- --- --- PASS TRIML2 205860 broad.mit.edu 37 4 189012862 189012862 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr4:189012862C>T uc003izl.2 - 7 865 c.829G>A c.(829-831)GCG>ACG p.A277T TRIML2_uc003izj.1_Missense_Mutation_p.A105T|TRIML2_uc003izk.1_Missense_Mutation_p.A85T|TRIML2_uc011cle.1_Missense_Mutation_p.A352T NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 277 B30.2/SPRY. ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) CTGCCCTTCGCGTCTGCAGAG 0.617 89 118 --- --- --- --- PASS SDHA 6389 broad.mit.edu 37 5 231090 231090 + Silent SNP A C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:231090A>C uc003jao.3 + 7 985 c.870A>C c.(868-870)CTA>CTC p.L290L SDHA_uc003jan.2_Silent_p.L290L|SDHA_uc011clv.1_Silent_p.L290L|SDHA_uc011clw.1_Silent_p.L242L|SDHA_uc003jap.3_Silent_p.L290L|SDHA_uc003jaq.3_Silent_p.L65L|SDHA_uc003jar.3_5'UTR NM_004168 NP_004159 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, 290 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity 0 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) GCCAGGACCTAGAGTTTGTTC 0.592 Familial_Paragangliomas 3 81 --- --- --- --- PASS EXOC3 11336 broad.mit.edu 37 5 453949 453949 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:453949C>T uc003jba.2 + 4 957 c.829C>T c.(829-831)CGC>TGC p.R277C NM_007277 NP_009208 O60645 EXOC3_HUMAN Sec6 protein 288 exocytosis|protein transport 0 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) GTGGCTTGTCCGCCACCTGGA 0.473 5 41 --- --- --- --- PASS SLC12A7 10723 broad.mit.edu 37 5 1084028 1084028 + Missense_Mutation SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:1084028C>G uc003jbu.2 - 8 1027 c.961G>C c.(961-963)GAT>CAT p.D321H NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 321 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) ACGCAGGCATCGAAGCTGCGC 0.672 17 52 --- --- --- --- PASS KIAA0947 23379 broad.mit.edu 37 5 5462757 5462757 + Nonsense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:5462757G>T uc003jdm.3 + 13 3532 c.3310G>T c.(3310-3312)GGA>TGA p.G1104* NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 1104 ovary(1)|central_nervous_system(1) 2 TCGAGAGGGGGGAGACGACAC 0.478 20 54 --- --- --- --- PASS MARCH6 10299 broad.mit.edu 37 5 10405769 10405769 + Nonsense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:10405769C>T uc003jet.1 + 16 1615 c.1432C>T c.(1432-1434)CGA>TGA p.R478* MARCH6_uc011cmu.1_Nonsense_Mutation_p.R430*|MARCH6_uc003jeu.1_Nonsense_Mutation_p.R176*|MARCH6_uc011cmv.1_Nonsense_Mutation_p.R373* NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 478 Cytoplasmic (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 TAGGCATCTCCGAAGATTTAT 0.338 46 84 --- --- --- --- PASS CTNND2 1501 broad.mit.edu 37 5 11411671 11411671 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:11411671G>T uc003jfa.1 - 5 561 c.416C>A c.(415-417)CCA>CAA p.P139Q CTNND2_uc010itt.2_Missense_Mutation_p.P48Q|CTNND2_uc011cmy.1_Missense_Mutation_p.P48Q|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 139 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 ATAATCCTGTGGGTCAAGTAT 0.378 40 96 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24492935 24492935 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:24492935C>A uc003jgr.1 - 10 1947 c.1615G>T c.(1615-1617)GAT>TAT p.D539Y CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 539 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) CCTTCATTATCCTGTACTGTG 0.338 HNSCC(23;0.051) 56 149 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24593447 24593447 + Silent SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:24593447A>G uc003jgr.1 - 2 485 c.153T>C c.(151-153)CGT>CGC p.R51R CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 51 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) CACGTTTTTGACGATGGAGAA 0.393 HNSCC(23;0.051) 60 135 --- --- --- --- PASS CDH6 1004 broad.mit.edu 37 5 31317884 31317884 + Missense_Mutation SNP A T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:31317884A>T uc003jhe.1 + 11 2061 c.1735A>T c.(1735-1737)AGC>TGC p.S579C CDH6_uc003jhd.1_Missense_Mutation_p.S579C NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 579 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 CCCAGTTCAAAGCAGCACTGG 0.542 20 51 --- --- --- --- PASS ZFR 51663 broad.mit.edu 37 5 32390512 32390512 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:32390512T>C uc003jhr.1 - 12 2091 c.2011A>G c.(2011-2013)ATG>GTG p.M671V ZFR_uc011cny.1_5'Flank NM_016107 NP_057191 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 671 multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(35;0.19) TCTTCCTCCATTCTCCTCCAG 0.463 40 73 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33624345 33624345 + Missense_Mutation SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:33624345C>G uc003jia.1 - 14 2297 c.2134G>C c.(2134-2136)GAA>CAA p.E712Q ADAMTS12_uc010iuq.1_Intron NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 712 Spacer 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 CCAGATCCTTCCTTCTGCTTA 0.448 HNSCC(64;0.19) 35 81 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33637810 33637810 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:33637810C>A uc003jia.1 - 12 1923 c.1760G>T c.(1759-1761)CGC>CTC p.R587L ADAMTS12_uc010iuq.1_Missense_Mutation_p.R587L NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 587 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 CAAGCGATAGCGTTTTCTTTC 0.458 HNSCC(64;0.19) 25 62 --- --- --- --- PASS AMACR 23600 broad.mit.edu 37 5 34005954 34005954 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:34005954G>T uc003jig.2 - 2 380 c.298C>A c.(298-300)CCA>ACA p.P100T AMACR_uc003jih.2_Missense_Mutation_p.P100T|AMACR_uc003jii.2_Missense_Mutation_p.P100T|AMACR_uc003jij.2_Missense_Mutation_p.P100T|AMACR_uc003jil.1_Missense_Mutation_p.P100T|AMACR_uc003jik.1_Missense_Mutation_p.P100T NM_014324 NP_055139 Q9UHK6 AMACR_HUMAN alpha-methylacyl-CoA racemase isoform 1 100 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase mitochondrion|peroxisomal matrix alpha-methylacyl-CoA racemase activity 0 ATAAGCCTTGGATTTTCCCGC 0.463 17 97 --- --- --- --- PASS WDR70 55100 broad.mit.edu 37 5 37605225 37605225 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:37605225G>T uc003jkv.2 + 10 1035 c.977G>T c.(976-978)CGG>CTG p.R326L WDR70_uc010iva.1_Missense_Mutation_p.R326L NM_018034 NP_060504 Q9NW82 WDR70_HUMAN WD repeat domain 70 326 ovary(1)|central_nervous_system(1) 2 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTTAAACCACGGACGATGCAA 0.393 22 38 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41004890 41004890 + Missense_Mutation SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:41004890C>G uc003jmj.3 - 36 4487 c.3997G>C c.(3997-3999)GGG>CGG p.G1333R HEATR7B2_uc003jmi.3_Missense_Mutation_p.G888R NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1333 binding ovary(6)|central_nervous_system(2) 8 TGAGGAGCCCCGGATGCTGTG 0.473 24 56 --- --- --- --- PASS IL31RA 133396 broad.mit.edu 37 5 55185892 55185892 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:55185892G>T uc003jql.2 + 6 766 c.701G>T c.(700-702)CGA>CTA p.R234L IL31RA_uc003jqk.2_Missense_Mutation_p.R234L|IL31RA_uc011cqj.1_Missense_Mutation_p.R92L|IL31RA_uc003jqm.2_Missense_Mutation_p.R202L|IL31RA_uc003jqn.2_Missense_Mutation_p.R234L|IL31RA_uc010iwa.1_Missense_Mutation_p.R202L|IL31RA_uc003jqo.2_Missense_Mutation_p.R92L NM_139017 NP_620586 Q8NI17 IL31R_HUMAN gp130-like monocyte receptor 202 Extracellular (Potential).|Fibronectin type-III 2. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity ovary(1) 1 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) ATAGCTCTGCGATGTGCGGTC 0.478 33 75 --- --- --- --- PASS SV2C 22987 broad.mit.edu 37 5 75594629 75594629 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:75594629G>T uc003kei.1 + 10 1647 c.1513G>T c.(1513-1515)GTC>TTC p.V505F NM_014979 NP_055794 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 505 Extracellular (Potential). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity skin(1) 1 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) ATTCATAGGGGTCAAGTTCAA 0.368 48 137 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 90087132 90087132 + Missense_Mutation SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:90087132A>G uc003kju.2 + 70 14582 c.14486A>G c.(14485-14487)TAT>TGT p.Y4829C GPR98_uc003kjt.2_Missense_Mutation_p.Y2535C|GPR98_uc003kjw.2_Missense_Mutation_p.Y490C NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 4829 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GGTGCCACATATAAAGTGGAC 0.453 8 12 --- --- --- --- PASS ANKRD32 84250 broad.mit.edu 37 5 94024292 94024292 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:94024292C>T uc003kkr.3 + 17 2283 c.2203C>T c.(2203-2205)CGG>TGG p.R735W ANKRD32_uc003kks.2_Missense_Mutation_p.R99W NM_032290 NP_115666 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 735 ovary(2) 2 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) AATAGGACAGCGGCCTTGTTT 0.408 51 99 --- --- --- --- PASS MAN2A1 4124 broad.mit.edu 37 5 109103254 109103254 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:109103254G>T uc003kou.1 + 6 1817 c.854G>T c.(853-855)GGC>GTC p.G285V NM_002372 NP_002363 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 285 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) CCTCGGTCCGGCTGGGCTATT 0.383 60 110 --- --- --- --- PASS ALDH7A1 501 broad.mit.edu 37 5 125894941 125894941 + Silent SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:125894941C>T uc003ktx.2 - 11 1191 c.999G>A c.(997-999)GCG>GCA p.A333A ALDH7A1_uc003ktv.2_5'UTR|ALDH7A1_uc003kty.2_RNA|ALDH7A1_uc011cxa.1_Silent_p.A360A NM_001182 NP_001173 P49419 AL7A1_HUMAN aldehyde dehydrogenase 7 family, member A1 333 cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound cytosol|mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity kidney(2)|ovary(1) 3 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) NADH(DB00157)|Pyridoxine(DB00165) CCAGTCGCCTCGCAGTGGTAC 0.478 23 63 --- --- --- --- PASS ISOC1 51015 broad.mit.edu 37 5 128442721 128442721 + Nonsense_Mutation SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:128442721C>G uc003kva.2 + 4 734 c.716C>G c.(715-717)TCA>TGA p.S239* NM_016048 NP_057132 Q96CN7 ISOC1_HUMAN isochorismatase domain containing 1 239 peroxisome catalytic activity 0 all_cancers(142;0.0813)|Prostate(80;0.0865) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164) GCCACCTCATCAAGAAGCATG 0.448 30 80 --- --- --- --- PASS ADAMTS19 171019 broad.mit.edu 37 5 128844853 128844853 + Silent SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:128844853T>A uc003kvb.1 + 3 813 c.813T>A c.(811-813)CGT>CGA p.R271R ADAMTS19_uc003kvc.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 271 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) ACCCACACCGTGTATATAGGC 0.413 43 60 --- --- --- --- PASS CHSY3 337876 broad.mit.edu 37 5 129243813 129243813 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:129243813G>T uc003kvd.2 + 2 846 c.846G>T c.(844-846)AAG>AAT p.K282N NM_175856 NP_787052 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 282 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity ovary(2)|pancreas(1) 3 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) ACAGCAGTAAGCCTCTCTACC 0.433 29 68 --- --- --- --- PASS RAD50 10111 broad.mit.edu 37 5 131915105 131915105 + Silent SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:131915105C>T uc003kxi.2 + 4 849 c.462C>T c.(460-462)GTC>GTT p.V154V RAD50_uc003kxg.1_Silent_p.V55V|RAD50_uc003kxh.2_Silent_p.V15V NM_005732 NP_005723 Q92878 RAD50_HUMAN RAD50 homolog isoform 1 154 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding lung(2)|ovary(1)|skin(1) 4 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TAAATAATGTCATTTTCTGTC 0.398 Homologous_recombination 38 86 --- --- --- --- PASS TXNDC15 79770 broad.mit.edu 37 5 134232099 134232099 + Missense_Mutation SNP A T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:134232099A>T uc003lac.1 + 4 1529 c.871A>T c.(871-873)ATT>TTT p.I291F TXNDC15_uc010jdy.1_RNA|TXNDC15_uc011cxv.1_RNA NM_024715 NP_078991 Q96J42 TXD15_HUMAN disulfide isomerase precursor 291 Extracellular (Potential).|Thioredoxin. cell redox homeostasis integral to membrane ovary(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GAAAATCTTCATTTTTAATCA 0.393 64 144 --- --- --- --- PASS TRPC7 57113 broad.mit.edu 37 5 135583364 135583364 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:135583364C>A uc003lbn.1 - 6 1639 c.1636G>T c.(1636-1638)GCC>TCC p.A546S TRPC7_uc010jef.1_Missense_Mutation_p.A483S|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.A477S|TRPC7_uc010jei.1_Missense_Mutation_p.A422S|TRPC7_uc010jej.1_Missense_Mutation_p.A98S NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 547 Helical; (Potential). axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGCACGACGGCTATCGCGTAG 0.517 51 98 --- --- --- --- PASS TRPC7 57113 broad.mit.edu 37 5 135651309 135651309 + Silent SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:135651309G>T uc003lbn.1 - 2 939 c.936C>A c.(934-936)CTC>CTA p.L312L TRPC7_uc010jef.1_Silent_p.L304L|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Intron|TRPC7_uc010jei.1_Intron|TRPC7_uc010jej.1_Intron NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 313 Cytoplasmic (Potential). axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ATTTAATGGCGAGTTTGATCC 0.512 9 43 --- --- --- --- PASS BRD8 10902 broad.mit.edu 37 5 137506041 137506041 + Silent SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:137506041T>C uc003lcf.1 - 7 553 c.498A>G c.(496-498)GCA>GCG p.A166A BRD8_uc003lcc.1_RNA|BRD8_uc003lcg.2_Silent_p.A166A|BRD8_uc003lci.2_Silent_p.A166A|BRD8_uc003lch.2_Silent_p.A26A|BRD8_uc011cym.1_Silent_p.A150A|BRD8_uc010jer.1_Silent_p.A135A|BRD8_uc011cyn.1_Silent_p.A125A|BRD8_uc010jes.1_Silent_p.A33A NM_139199 NP_631938 Q9H0E9 BRD8_HUMAN bromodomain containing 8 isoform 2 166 Potential. cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TACCCTGGTATGCAGCATCTG 0.418 61 95 --- --- --- --- PASS PCDHA6 56142 broad.mit.edu 37 5 140207706 140207706 + Silent SNP A T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:140207706A>T uc003lho.2 + 1 57 c.30A>T c.(28-30)GGA>GGT p.G10G PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.G10G|PCDHA6_uc011dab.1_Silent_p.G10G NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 10 homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATAGATTGGGAAAGCAATGTC 0.512 68 136 --- --- --- --- PASS PCDHA11 56138 broad.mit.edu 37 5 140248759 140248759 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:140248759G>T uc003lia.2 + 1 929 c.71G>T c.(70-72)TGG>TTG p.W24L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.W24L NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 24 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCGAATTCTGGGAGGTGGGG 0.597 57 108 --- --- --- --- PASS PCDHAC1 56135 broad.mit.edu 37 5 140308655 140308655 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:140308655G>T uc003lih.2 + 1 2354 c.2178G>T c.(2176-2178)AGG>AGT p.R726S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.R726S NM_018898 NP_061721 Q9H158 PCDC1_HUMAN protocadherin alpha subfamily C, 1 isoform 1 726 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGATCTGAGGTATGGAAGTA 0.473 43 93 --- --- --- --- PASS PCDHB1 29930 broad.mit.edu 37 5 140432759 140432759 + Missense_Mutation SNP C G G rs137984585 by1000genomes TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:140432759C>G uc003lik.1 + 1 1781 c.1704C>G c.(1702-1704)AAC>AAG p.N568K NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 568 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACTGCAGAACGGCACCTTGC 0.522 69 127 --- --- --- --- PASS PCDHB2 56133 broad.mit.edu 37 5 140474456 140474456 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:140474456G>T uc003lil.2 + 1 220 c.82G>T c.(82-84)GCT>TCT p.A28S PCDHB2_uc003lim.1_Intron NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 28 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CATAGCTCAGGCTAGTTGCCA 0.527 21 93 --- --- --- --- PASS PCDHB4 56131 broad.mit.edu 37 5 140501785 140501785 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:140501785G>T uc003lip.1 + 1 205 c.205G>T c.(205-207)GAT>TAT p.D69Y NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 69 Cadherin 1.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTGTCTGACGATGACAAGCA 0.572 29 84 --- --- --- --- PASS PCDHB6 56130 broad.mit.edu 37 5 140532060 140532060 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:140532060G>T uc003lir.2 + 1 2222 c.2222G>T c.(2221-2223)GGG>GTG p.G741V PCDHB6_uc011dah.1_Missense_Mutation_p.G605V NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 741 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCGGCACCGGGACCCTATCC 0.612 89 182 --- --- --- --- PASS PCDHB7 56129 broad.mit.edu 37 5 140554197 140554197 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:140554197G>T uc003lit.2 + 1 1955 c.1781G>T c.(1780-1782)GGC>GTC p.G594V NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 594 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGGTGGACGGCGACTCGGGC 0.711 35 108 --- --- --- --- PASS PCDHB8 56128 broad.mit.edu 37 5 140559816 140559816 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:140559816C>T uc011dai.1 + 1 2387 c.2201C>T c.(2200-2202)CCA>CTA p.P734L PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 734 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCCCCTTTCCAGGGCATCTG 0.632 75 151 --- --- --- --- PASS PCDHB16 57717 broad.mit.edu 37 5 140563670 140563670 + Silent SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:140563670C>T uc003liv.2 + 1 2691 c.1536C>T c.(1534-1536)CAC>CAT p.H512H NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 512 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAACGGCCACCTGTTCGCCC 0.692 5 104 --- --- --- --- PASS PCDHB9 56127 broad.mit.edu 37 5 140568859 140568859 + Silent SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:140568859C>A uc003liw.1 + 3 1968 c.1968C>A c.(1966-1968)GCC>GCA p.A656A NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 656 Extracellular (Potential).|Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGCCACCGCCACGCTGCACG 0.706 29 77 --- --- --- --- PASS PCDHB10 56126 broad.mit.edu 37 5 140573661 140573661 + Silent SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:140573661C>T uc003lix.2 + 1 1710 c.1536C>T c.(1534-1536)CAC>CAT p.H512H NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 512 Cadherin 5.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAACGGCCACCTGTTCGCCC 0.701 58 220 --- --- --- --- PASS PCDHB14 56122 broad.mit.edu 37 5 140603986 140603986 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:140603986G>C uc003ljb.2 + 1 909 c.909G>C c.(907-909)TTG>TTC p.L303F PCDHB14_uc011dal.1_Missense_Mutation_p.L150F NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 303 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAGTTAATTTGAGATCACCCC 0.353 34 85 --- --- --- --- PASS PCDHGB4 8641 broad.mit.edu 37 5 140767870 140767870 + Missense_Mutation SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:140767870T>A uc003lkc.1 + 1 419 c.419T>A c.(418-420)CTG>CAG p.L140Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.L140Q NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 140 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCTTTGAGCTGCAAATAAGT 0.438 38 51 --- --- --- --- PASS PCDHGB4 8641 broad.mit.edu 37 5 140768532 140768532 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:140768532G>A uc003lkc.1 + 1 1081 c.1081G>A c.(1081-1083)GGA>AGA p.G361R PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.G361R NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 361 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCGAGCTGGGAACACATAT 0.428 35 78 --- --- --- --- PASS CCDC69 26112 broad.mit.edu 37 5 150578600 150578600 + Nonsense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:150578600G>A uc003ltq.2 - 4 400 c.277C>T c.(277-279)CAG>TAG p.Q93* CCDC69_uc010jhu.2_5'UTR|CCDC69_uc011dcq.1_RNA NM_015621 NP_056436 A6NI79 CCD69_HUMAN coiled-coil domain containing 69 93 Potential. ovary(2) 2 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACCCTTTGCTGCTCATCCAGT 0.577 73 152 --- --- --- --- PASS HAVCR1 26762 broad.mit.edu 37 5 156479625 156479625 + Silent SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:156479625G>C uc010jij.1 - 4 605 c.420C>G c.(418-420)ACC>ACG p.T140T HAVCR1_uc011ddl.1_5'UTR|HAVCR1_uc003lwi.2_Silent_p.T140T|HAVCR1_uc011ddm.1_Silent_p.T140T NM_001099414 NP_001092884 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 140 Extracellular (Potential).|11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.|1. interspecies interaction between organisms integral to membrane receptor activity ovary(1)|skin(1) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CAGTCGTGACGGTTGGAACAG 0.468 103 269 --- --- --- --- PASS KCNIP1 30820 broad.mit.edu 37 5 170148890 170148890 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:170148890G>A uc003mas.2 + 5 872 c.343G>A c.(343-345)GGC>AGC p.G115S KCNIP1_uc003map.2_Missense_Mutation_p.G113S|KCNIP1_uc003mat.2_Missense_Mutation_p.G104S|KCNIP1_uc010jjp.2_Missense_Mutation_p.G76S|KCNIP1_uc010jjq.2_Missense_Mutation_p.G129S NM_001034837 NP_001030009 Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 isoform 1 115 EF-hand 2. detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity skin(2) 2 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) CACTCAGACAGGCTCCGTGAA 0.552 44 89 --- --- --- --- PASS DOK3 79930 broad.mit.edu 37 5 176931438 176931438 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:176931438C>A uc003mhk.2 - 6 1042 c.1037G>T c.(1036-1038)GGA>GTA p.G346V DOK3_uc003mhh.3_Intron|DOK3_uc003mhi.3_Intron|DOK3_uc003mhj.3_Intron|DOK3_uc003mhl.2_Missense_Mutation_p.G290V NM_024872 NP_079148 Q7L591 DOK3_HUMAN docking protein 3 isoform 1 346 Pro-rich. cytoplasm|plasma membrane insulin receptor binding 0 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) TGGCTCAGGTCCTGGTGGCAT 0.711 18 28 --- --- --- --- PASS GRM6 2916 broad.mit.edu 37 5 178413315 178413315 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr5:178413315G>T uc003mjr.2 - 8 2119 c.1940C>A c.(1939-1941)GCC>GAC p.A647D GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.A230D|GRM6_uc003mjs.1_Missense_Mutation_p.A267D NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 647 Extracellular (Potential). detection of visible light|visual perception integral to plasma membrane lung(4)|ovary(2)|breast(1)|pancreas(1) 8 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) ACAGACCGCGGCCCCAGGCTC 0.647 13 25 --- --- --- --- PASS SYCP2L 221711 broad.mit.edu 37 6 10961551 10961551 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:10961551G>C uc003mzo.2 + 27 2565 c.2269G>C c.(2269-2271)GAG>CAG p.E757Q SYCP2L_uc010jow.2_Missense_Mutation_p.E377Q NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 757 nucleus ovary(1)|skin(1) 2 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) CAATAAACTAGAGCGCTTTCA 0.378 22 37 --- --- --- --- PASS HIVEP1 3096 broad.mit.edu 37 6 12124109 12124109 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:12124109C>T uc003nac.2 + 4 4260 c.4081C>T c.(4081-4083)CGG>TGG p.R1361W HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 1361 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TGGATGTCACCGGGAAATGAG 0.433 15 54 --- --- --- --- PASS PRSS16 10279 broad.mit.edu 37 6 27215751 27215751 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:27215751C>A uc003nja.2 + 2 173 c.161C>A c.(160-162)GCA>GAA p.A54E PRSS16_uc011dkt.1_RNA|PRSS16_uc003njb.2_Missense_Mutation_p.A54E|PRSS16_uc010jqq.1_5'Flank|PRSS16_uc010jqr.1_5'Flank|PRSS16_uc003njc.1_5'Flank NM_005865 NP_005856 Q9NQE7 TSSP_HUMAN protease, serine, 16 precursor 54 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity ovary(2)|central_nervous_system(2)|skin(1) 5 CCAGGTGCTGCAGCCCTCCCA 0.642 38 46 --- --- --- --- PASS HIST1H2AK 8330 broad.mit.edu 37 6 27805777 27805777 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:27805777G>A uc003njs.2 - 1 341 c.341C>T c.(340-342)GCC>GTC p.A114V HIST1H2BN_uc003njt.1_5'Flank|HIST1H2BN_uc003nju.1_5'Flank|HIST1H2BN_uc003njv.2_5'Flank NM_003510 NP_003501 P0C0S8 H2A1_HUMAN histone cluster 1, H2ak 114 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding upper_aerodigestive_tract(1) 1 CAGCAGCACGGCCTGGATATT 0.577 75 68 --- --- --- --- PASS HIST1H4L 8368 broad.mit.edu 37 6 27841217 27841217 + Silent SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:27841217G>A uc003njz.2 - 1 73 c.72C>T c.(70-72)CGC>CGT p.R24R HIST1H3I_uc003njy.2_5'Flank NM_003546 NP_003537 P62805 H4_HUMAN histone cluster 1, H4l 24 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(1)|breast(1) 2 GAATGTTGTCGCGCAGAACTT 0.483 24 47 --- --- --- --- PASS TRIM10 10107 broad.mit.edu 37 6 30121868 30121868 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:30121868C>A uc003npo.3 - 7 1400 c.1324G>T c.(1324-1326)GTG>TTG p.V442L TRIM10_uc003npn.2_Intron NM_006778 NP_006769 Q9UDY6 TRI10_HUMAN tripartite motif-containing 10 isoform 1 442 B30.2/SPRY. cytoplasm zinc ion binding 0 GTGAAGGTCACCCAGCCCACC 0.617 16 39 --- --- --- --- PASS TRIM26 7726 broad.mit.edu 37 6 30166844 30166844 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:30166844C>T uc003npr.2 - 3 246 c.37G>A c.(37-39)GAG>AAG p.E13K TRIM26_uc003nps.2_Missense_Mutation_p.E13K|TRIM26_uc010jry.2_5'UTR|TRIM26_uc003npt.2_Missense_Mutation_p.E13K|TRIM26_uc003npu.1_Missense_Mutation_p.E13K NM_003449 NP_003440 Q12899 TRI26_HUMAN tripartite motif-containing 26 13 DNA binding|zinc ion binding ovary(2)|lung(1) 3 CAGGTCACCTCCTCTTCCAGG 0.587 14 25 --- --- --- --- PASS BAT1 7919 broad.mit.edu 37 6 31498659 31498659 + Silent SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:31498659T>A uc003ntt.2 - 10 1798 c.1167A>T c.(1165-1167)ACA>ACT p.T389T BAT1_uc003ntq.2_Silent_p.T122T|BAT1_uc003ntr.2_Silent_p.T196T|BAT1_uc003nts.2_Missense_Mutation_p.H397L|BAT1_uc011dnn.1_Silent_p.T311T|BAT1_uc003ntu.2_Silent_p.T389T|BAT1_uc003ntv.2_Silent_p.T389T NM_004640 NP_004631 Q13838 DX39B_HUMAN HLA-B associated transcript 1 389 Helicase C-terminal. intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding 0 CGGACACAAATGTGATAGCCA 0.527 22 42 --- --- --- --- PASS DDAH2 23564 broad.mit.edu 37 6 31695071 31695071 + Silent SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:31695071C>T uc003nwp.2 - 6 1432 c.801G>A c.(799-801)AAG>AAA p.K267K DDAH2_uc003nwq.2_Silent_p.K267K NM_013974 NP_039268 O95865 DDAH2_HUMAN dimethylarginine dimethylaminohydrolase 2 267 anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction cytoplasm dimethylargininase activity|protein binding 0 L-Citrulline(DB00155) CGGCGCCAGCCTTCTCCAGTT 0.622 72 106 --- --- --- --- PASS CYP21A2 1589 broad.mit.edu 37 6 32007589 32007589 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:32007589G>C uc003nze.1 + 6 833 c.715G>C c.(715-717)GAG>CAG p.E239Q CYP21A2_uc003nzf.1_Missense_Mutation_p.E209Q NM_000500 NP_000491 P08686 CP21A_HUMAN cytochrome P450, family 21, subfamily A, 238 glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding 0 TCACATCGTGGAGATGCAGCT 0.607 9 28 --- --- --- --- PASS PPARD 5467 broad.mit.edu 37 6 35392307 35392307 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:35392307G>C uc003okm.2 + 7 1138 c.829G>C c.(829-831)GAC>CAC p.D277H PPARD_uc003okl.2_Missense_Mutation_p.D277H|PPARD_uc003okn.2_Missense_Mutation_p.D277H|PPARD_uc011dtb.1_Missense_Mutation_p.D238H|PPARD_uc011dtc.1_Missense_Mutation_p.D179H NM_006238 NP_006229 Q03181 PPARD_HUMAN peroxisome proliferative activated receptor, 277 Ligand-binding. apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1) 1 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) CTTCCTCAACGACCAGGTTAC 0.602 6 40 --- --- --- --- PASS ABCC10 89845 broad.mit.edu 37 6 43414987 43414987 + Silent SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:43414987G>T uc003ouy.1 + 17 3761 c.3546G>T c.(3544-3546)GGG>GGT p.G1182G ABCC10_uc003ouz.1_Silent_p.G1154G|ABCC10_uc010jyo.1_Silent_p.G288G NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 1182 ABC transmembrane type-1 2.|Helical; (Potential). integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CTCCCCCAGGGCTGGTGGGCT 0.617 42 165 --- --- --- --- PASS AARS2 57505 broad.mit.edu 37 6 44273518 44273518 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:44273518C>T uc010jza.1 - 10 1309 c.1306G>A c.(1306-1308)GTG>ATG p.V436M SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 436 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding ovary(1) 1 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) GACCAGGCCACTTCAGCTTTG 0.522 79 137 --- --- --- --- PASS CRISP3 10321 broad.mit.edu 37 6 49701449 49701449 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:49701449C>A uc003ozs.2 - 5 405 c.390G>T c.(388-390)AAG>AAT p.K130N NM_006061 NP_006052 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 precursor 130 K -> R (in Ref. 4; BAD97100). innate immune response proteinaceous extracellular matrix|specific granule skin(2) 2 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) CGTTGGGAGTCTTTGGCCCTA 0.403 24 116 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51524709 51524709 + Nonsense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:51524709G>T uc003pah.1 - 61 10491 c.10215C>A c.(10213-10215)TGC>TGA p.C3405* NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3405 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) CAGTCTGTTTGCAGATGAATC 0.353 25 47 --- --- --- --- PASS COL19A1 1310 broad.mit.edu 37 6 70877932 70877932 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:70877932G>C uc003pfc.1 + 38 2578 c.2461G>C c.(2461-2463)GAA>CAA p.E821Q NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 821 GIPFNERN -> VSCSRLKI (in Ref. 6; AAA36358). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 TCCATTTAATGAACGAAACGG 0.239 36 63 --- --- --- --- PASS MANEA 79694 broad.mit.edu 37 6 96053844 96053844 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:96053844G>T uc003poo.1 + 5 1092 c.952G>T c.(952-954)GAT>TAT p.D318Y NM_024641 NP_078917 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 318 Catalytic (Probable).|Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity ovary(2)|breast(1) 3 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) AAGTGGTTTTGATGGAATTTA 0.348 10 82 --- --- --- --- PASS POU3F2 5454 broad.mit.edu 37 6 99283327 99283327 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:99283327C>A uc003ppe.2 + 1 748 c.578C>A c.(577-579)CCC>CAC p.P193H NM_005604 NP_005595 P20265 PO3F2_HUMAN POU domain, class 3, transcription factor 2 193 positive regulation of cell proliferation identical protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0355) TACTCGCAGCCCAGCTTCACG 0.736 5 5 --- --- --- --- PASS AKD1 221264 broad.mit.edu 37 6 109871492 109871492 + Missense_Mutation SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:109871492A>G uc003ptn.2 - 25 2842 c.2765T>C c.(2764-2766)ATG>ACG p.M922T AKD1_uc011eat.1_Missense_Mutation_p.M1T NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN adenylate kinase domain containing 1 isoform 1 922 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity ovary(1) 1 TCTCTCCTTCATTTTATCTTC 0.358 22 94 --- --- --- --- PASS RFX6 222546 broad.mit.edu 37 6 117241612 117241612 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:117241612C>T uc003pxm.2 + 12 1385 c.1322C>T c.(1321-1323)ACT>ATT p.T441I NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 441 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 GGTATCTACACTGAACGTAAG 0.269 47 89 --- --- --- --- PASS TRDN 10345 broad.mit.edu 37 6 123600211 123600211 + Silent SNP A T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:123600211A>T uc003pzj.1 - 25 1549 c.1527T>A c.(1525-1527)CCT>CCA p.P509P TRDN_uc010kem.1_Silent_p.P10P NM_006073 NP_006064 Q13061 TRDN_HUMAN triadin 509 Lumenal. muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.184) GTGGAGGTTTAGGCTTGACTT 0.244 39 34 --- --- --- --- PASS AKAP7 9465 broad.mit.edu 37 6 131481208 131481208 + Missense_Mutation SNP A T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:131481208A>T uc003qck.2 + 3 194 c.161A>T c.(160-162)GAA>GTA p.E54V AKAP7_uc011ebz.1_Missense_Mutation_p.E32V NM_016377 NP_057461 O43687 AKA7A_HUMAN A-kinase anchor protein 7 isoform gamma Error:Variant_position_missing_in_O43687_after_alignment intracellular signal transduction|ion transport apical plasma membrane|intracellular|lateral plasma membrane protein kinase A binding ovary(2) 2 Breast(56;0.152) GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345) GTCACTGATGAACCTCAAATA 0.294 20 47 --- --- --- --- PASS UTRN 7402 broad.mit.edu 37 6 144898392 144898392 + Missense_Mutation SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:144898392A>G uc003qkt.2 + 50 7539 c.7447A>G c.(7447-7449)ATC>GTC p.I2483V NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 2483 Spectrin 17. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TCAGGATAGTATCTTGGCCAG 0.493 20 26 --- --- --- --- PASS SHPRH 257218 broad.mit.edu 37 6 146275940 146275940 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:146275940C>A uc003qlf.2 - 2 918 c.519G>T c.(517-519)AAG>AAT p.K173N SHPRH_uc003qld.2_Missense_Mutation_p.K173N|SHPRH_uc003qle.2_Missense_Mutation_p.K173N|SHPRH_uc003qlg.1_Translation_Start_Site|SHPRH_uc003qlj.1_Missense_Mutation_p.K62N|SHPRH_uc003qlk.1_Missense_Mutation_p.K173N NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 173 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) CCAGAATACCCTTGTCACAAA 0.373 38 61 --- --- --- --- PASS TFB1M 51106 broad.mit.edu 37 6 155606408 155606408 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:155606408G>A uc003qqj.3 - 5 614 c.550C>T c.(550-552)CTT>TTT p.L184F TFB1M_uc003qqk.2_Intron NM_016020 NP_057104 Q8WVM0 TFB1M_HUMAN transcription factor B1, mitochondrial 184 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity skin(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131) TTGGCTGCAAGTCTCTAGAGA 0.408 5 26 --- --- --- --- PASS LPA 4018 broad.mit.edu 37 6 161022046 161022046 + Silent SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:161022046C>T uc003qtl.2 - 20 3150 c.3030G>A c.(3028-3030)GAG>GAA p.E1010E NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3518 Kringle 31. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GGTTGCAGTACTCCCACCTGA 0.488 37 58 --- --- --- --- PASS LPA 4018 broad.mit.edu 37 6 161071443 161071443 + Nonsense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr6:161071443C>A uc003qtl.2 - 3 256 c.136G>T c.(136-138)GGA>TGA p.G46* NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 2554 Kringle 23. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CAGGTCCTTCCTGTGACAGTG 0.448 86 133 --- --- --- --- PASS SDK1 221935 broad.mit.edu 37 7 4188935 4188935 + Nonsense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:4188935G>T uc003smx.2 + 30 4604 c.4465G>T c.(4465-4467)GAA>TAA p.E1489* SDK1_uc010kso.2_Nonsense_Mutation_p.E765*|SDK1_uc003smy.2_5'UTR NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1489 Fibronectin type-III 9. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GCCCCAGGCAGAAGTGACCGC 0.672 10 32 --- --- --- --- PASS ETV1 2115 broad.mit.edu 37 7 13950876 13950876 + Missense_Mutation SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:13950876T>A uc011jxq.1 - 10 1598 c.859A>T c.(859-861)AGC>TGC p.S287C ETV1_uc011jxn.1_Missense_Mutation_p.S247C|ETV1_uc011jxo.1_Missense_Mutation_p.S184C|ETV1_uc011jxp.1_Missense_Mutation_p.S229C|ETV1_uc003ssw.3_Intron|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.S269C|ETV1_uc011jxs.1_Missense_Mutation_p.S269C|ETV1_uc010ktv.2_Missense_Mutation_p.S156C NM_004956 NP_004947 P50549 ETV1_HUMAN ets variant gene 1 isoform a 287 Missing (in Ref. 5; AAC62435). transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(24)|EWSR1/ETV1(7) prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1) 35 TCTGTTCTGCTGGGATGAGCC 0.398 T EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3 Ewing sarcoma|prostate 12 29 --- --- --- --- PASS ETV1 2115 broad.mit.edu 37 7 13971314 13971314 + Silent SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:13971314C>T uc011jxq.1 - 9 1354 c.615G>A c.(613-615)AGG>AGA p.R205R ETV1_uc011jxn.1_Silent_p.R165R|ETV1_uc011jxo.1_Silent_p.R102R|ETV1_uc011jxp.1_Silent_p.R147R|ETV1_uc003ssw.3_Silent_p.R205R|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Silent_p.R187R|ETV1_uc011jxs.1_Silent_p.R187R|ETV1_uc010ktv.2_Silent_p.R74R NM_004956 NP_004947 P50549 ETV1_HUMAN ets variant gene 1 isoform a 205 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(24)|EWSR1/ETV1(7) prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1) 35 GACGTCCTTCCCTTGGCATCG 0.502 T EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3 Ewing sarcoma|prostate 31 42 --- --- --- --- PASS IGF2BP3 10643 broad.mit.edu 37 7 23391040 23391040 + Silent SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:23391040G>T uc003swg.2 - 6 833 c.567C>A c.(565-567)TCC>TCA p.S189S NM_006547 NP_006538 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding 189 anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity ovary(2) 2 GTTTCTGCTTGGATACGGATC 0.582 31 66 --- --- --- --- PASS CREB5 9586 broad.mit.edu 37 7 28527826 28527826 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:28527826G>C uc003szq.2 + 2 427 c.37G>C c.(37-39)GAG>CAG p.E13Q CREB5_uc003szo.2_Intron|CREB5_uc003szr.2_Missense_Mutation_p.E6Q NM_182898 NP_878901 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 13 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 TTTGGAGCAGGAGAGGCCGTT 0.512 34 78 --- --- --- --- PASS NOD1 10392 broad.mit.edu 37 7 30469038 30469038 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:30469038G>T uc003tav.2 - 13 3264 c.2741C>A c.(2740-2742)GCC>GAC p.A914D NM_006092 NP_006083 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain 914 LRR 8. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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 basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity ovary(1)|skin(1) 2 TGCCAGCTGGGCAGTCCCCTT 0.378 87 249 --- --- --- --- PASS ADCYAP1R1 117 broad.mit.edu 37 7 31124405 31124405 + Silent SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:31124405C>G uc003tca.1 + 8 715 c.492C>G c.(490-492)TCC>TCG p.S164S ADCYAP1R1_uc003tcb.1_Silent_p.S143S|ADCYAP1R1_uc003tcc.1_Silent_p.S164S|ADCYAP1R1_uc003tcd.1_Silent_p.S164S|ADCYAP1R1_uc003tce.1_Silent_p.S164S|ADCYAP1R1_uc003tcf.1_5'Flank NM_001118 NP_001109 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 164 Helical; Name=1; (Potential). activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity ovary(1) 1 ACAGCACATCCCTCGTCACCC 0.562 43 85 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 7 38370157 38370157 + Missense_Mutation SNP A C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:38370157A>C uc010kxj.1 - 2 277 c.141T>G c.(139-141)AAT>AAG p.N47K uc010kxk.1_RNA SubName: Full=Putative uncharacterized protein ENSP00000374866; TGTAGACGGCATTTTCTACAG 0.502 27 84 --- --- --- --- PASS HECW1 23072 broad.mit.edu 37 7 43400557 43400557 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:43400557C>A uc003tid.1 + 6 1138 c.533C>A c.(532-534)ACG>AAG p.T178K HECW1_uc011kbi.1_Missense_Mutation_p.T178K|HECW1_uc003tie.1_Missense_Mutation_p.T210K NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 178 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 CCCAGTGTCACGGTCAAAAAC 0.428 34 77 --- --- --- --- PASS NPC1L1 29881 broad.mit.edu 37 7 44576449 44576449 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:44576449C>A uc003tlb.2 - 3 1729 c.1673G>T c.(1672-1674)GGG>GTG p.G558V NPC1L1_uc003tlc.2_Missense_Mutation_p.G558V|NPC1L1_uc011kbw.1_Missense_Mutation_p.G558V|NPC1L1_uc003tld.2_Missense_Mutation_p.G558V NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 558 Extracellular (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) ACCTTTGTACCCCCCAATGGC 0.607 27 77 --- --- --- --- PASS CCT6A 908 broad.mit.edu 37 7 56127249 56127249 + Silent SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:56127249T>A uc003trl.1 + 9 1145 c.981T>A c.(979-981)GCT>GCA p.A327A PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Silent_p.A282A|CCT6A_uc011kcu.1_Silent_p.A296A|SNORA15_uc003trn.1_5'Flank NM_001762 NP_001753 P40227 TCPZ_HUMAN chaperonin containing TCP1, subunit 6A isoform 327 'de novo' posttranslational protein folding cytosol ATP binding|unfolded protein binding upper_aerodigestive_tract(1) 1 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TGACTCTTGCTTGTGGTGGGG 0.388 35 67 --- --- --- --- PASS CCL24 6369 broad.mit.edu 37 7 75442680 75442680 + Silent SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:75442680G>A uc011kga.1 - 2 135 c.135C>T c.(133-135)AAC>AAT p.N45N NM_002991 NP_002982 O00175 CCL24_HUMAN small inducible cytokine A24 precursor 45 cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction extracellular space chemokine activity 0 TGACCACTCGGTTCTCAGGAA 0.557 24 77 --- --- --- --- PASS STYXL1 51657 broad.mit.edu 37 7 75651307 75651307 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:75651307T>C uc003uej.3 - 4 342 c.169A>G c.(169-171)AAT>GAT p.N57D STYXL1_uc011kgf.1_5'UTR|STYXL1_uc011kgg.1_5'UTR|STYXL1_uc003ueh.2_5'UTR|STYXL1_uc003uek.3_Intron|STYXL1_uc003uel.2_Missense_Mutation_p.N57D|STYXL1_uc003uem.2_Missense_Mutation_p.N57D|STYXL1_uc010ldg.1_RNA|STYXL1_uc010ldh.1_Missense_Mutation_p.N57D|STYXL1_uc003uen.1_Missense_Mutation_p.N57D NM_016086 NP_057170 Q9Y6J8 STYL1_HUMAN map kinase phosphatase-like protein MK-STYX 57 Rhodanese. intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity 0 TATTCATTATTTTTCTTAAAA 0.468 39 56 --- --- --- --- PASS GNAT3 346562 broad.mit.edu 37 7 80141170 80141170 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:80141170C>T uc011kgu.1 - 1 73 c.73G>A c.(73-75)GAG>AAG p.E25K CD36_uc003uhc.2_Intron NM_001102386 NP_001095856 A8MTJ3 GNAT3_HUMAN guanine nucleotide binding protein, alpha 25 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity ovary(1) 1 TCAGCATCCTCCTGAAGCTTT 0.388 9 27 --- --- --- --- PASS GRM3 2913 broad.mit.edu 37 7 86415633 86415633 + Silent SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:86415633C>T uc003uid.2 + 3 1624 c.525C>T c.(523-525)AGC>AGT p.S175S GRM3_uc010lef.2_Silent_p.S173S|GRM3_uc010leg.2_Silent_p.S47S|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 175 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CATCCACCAGCGCCAAACTCA 0.552 76 149 --- --- --- --- PASS DYNC1I1 1780 broad.mit.edu 37 7 95499272 95499272 + Missense_Mutation SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:95499272A>G uc003uoc.3 + 6 780 c.503A>G c.(502-504)AAG>AGG p.K168R DYNC1I1_uc003uod.3_Missense_Mutation_p.K151R|DYNC1I1_uc003uob.2_Missense_Mutation_p.K131R|DYNC1I1_uc003uoe.3_Missense_Mutation_p.K148R|DYNC1I1_uc010lfl.2_Missense_Mutation_p.K157R NM_004411 NP_004402 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 168 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity ovary(3)|kidney(1) 4 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) TCCTACTCAAAGGAGACCCAG 0.438 50 77 --- --- --- --- PASS C7orf51 222950 broad.mit.edu 37 7 100084641 100084641 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:100084641G>T uc003uvd.1 + 3 425 c.266G>T c.(265-267)GGC>GTC p.G89V C7orf51_uc003uve.1_5'Flank NM_173564 NP_775835 Q6ZVC0 CG051_HUMAN hypothetical protein FLJ37538 89 skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CACTCGGTGGGCAGCATGGAC 0.711 9 20 --- --- --- --- PASS MOSPD3 64598 broad.mit.edu 37 7 100211278 100211278 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:100211278C>T uc003uvq.2 + 4 662 c.460C>T c.(460-462)CCA>TCA p.P154S MOSPD3_uc003uvr.2_Missense_Mutation_p.P154S|MOSPD3_uc003uvs.2_Missense_Mutation_p.P154S|MOSPD3_uc003uvt.2_Missense_Mutation_p.P144S NM_001040097 NP_001035186 O75425 MSPD3_HUMAN motile sperm domain containing 3 isoform a 154 integral to membrane structural molecule activity ovary(2) 2 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) AGCGCCTCGCCCAGGGCCTCC 0.622 26 64 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 7 100608729 100608729 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:100608729C>A uc003uxl.1 + 7 2608 c.1808C>A c.(1807-1809)GCC>GAC p.A603D uc003uxm.1_RNA|uc003uxn.1_RNA|uc010lhn.1_RNA SubName: Full=Intestinal mucin; Flags: Fragment; CAACCCCCAGCCATCTGCCGC 0.602 16 55 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100677337 100677337 + Silent SNP T G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:100677337T>G uc003uxp.1 + 3 2693 c.2640T>G c.(2638-2640)TCT>TCG p.S880S MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 880 Extracellular (Potential).|12.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TGGCCACTTCTGCAATCAGCA 0.493 182 264 --- --- --- --- PASS FBXL13 222235 broad.mit.edu 37 7 102517978 102517978 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:102517978C>T uc003vaq.2 - 16 1998 c.1571G>A c.(1570-1572)GGA>GAA p.G524E FBXL13_uc010liq.1_Intron|FBXL13_uc010lir.1_Missense_Mutation_p.G524E|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.G524E NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 isoform 524 LRR 12. 0 TACAATATATCCAATTCCTTG 0.318 51 86 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103137095 103137095 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:103137095G>A uc003vca.2 - 56 9231 c.9071C>T c.(9070-9072)CCT>CTT p.P3024L RELN_uc010liz.2_Missense_Mutation_p.P3024L NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 3024 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GATCACAAAAGGCTGCCACCA 0.478 31 92 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103143641 103143641 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:103143641G>T uc003vca.2 - 52 8471 c.8311C>A c.(8311-8313)CAG>AAG p.Q2771K RELN_uc010liz.2_Missense_Mutation_p.Q2771K NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2771 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ATTTGATTCTGGGCAATTTTT 0.388 26 59 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103194108 103194108 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:103194108G>C uc003vca.2 - 39 6128 c.5968C>G c.(5968-5970)CCT>GCT p.P1990A RELN_uc010liz.2_Missense_Mutation_p.P1990A NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1990 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AATACTTACGGTGCCCCCTTT 0.378 16 45 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103205999 103205999 + Splice_Site SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:103205999C>A uc003vca.2 - 34 5097 c.4937_splice c.e34-1 p.G1646_splice RELN_uc010liz.2_Splice_Site_p.G1646_splice NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CGAGGTTTTCCTGAAAAAAAA 0.363 17 22 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103322621 103322621 + Missense_Mutation SNP G A A rs144978163 TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:103322621G>A uc003vca.2 - 11 1391 c.1231C>T c.(1231-1233)CTT>TTT p.L411F RELN_uc010liz.2_Missense_Mutation_p.L411F NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 411 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCTGTGGAAAGATCTACATCC 0.433 7 147 --- --- --- --- PASS SRPK2 6733 broad.mit.edu 37 7 104809643 104809643 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:104809643C>A uc003vct.2 - 3 453 c.266G>T c.(265-267)TGG>TTG p.W89L SRPK2_uc003vcu.2_Missense_Mutation_p.W89L|SRPK2_uc003vcv.2_Missense_Mutation_p.W100L|SRPK2_uc003vcw.1_Missense_Mutation_p.W89L NM_182691 NP_872633 P78362 SRPK2_HUMAN serine/arginine-rich protein-specific kinase 2 89 Protein kinase.|ATP (By similarity). angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1) 6 GAAGTGCCCCCATCCAAGCTT 0.393 43 77 --- --- --- --- PASS PRKAR2B 5577 broad.mit.edu 37 7 106786783 106786783 + Silent SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:106786783T>C uc003vdx.2 + 6 793 c.618T>C c.(616-618)GAT>GAC p.D206D NM_002736 NP_002727 P31323 KAP3_HUMAN cAMP-dependent protein kinase, regulatory 206 cAMP 1. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity ovary(1) 1 TGAAATGTGATGGTGTTGGAA 0.353 23 98 --- --- --- --- PASS DLD 1738 broad.mit.edu 37 7 107545940 107545940 + Silent SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:107545940T>A uc003vet.2 + 7 683 c.573T>A c.(571-573)CCT>CCA p.P191P DLD_uc010ljm.1_RNA|DLD_uc011kmg.1_Intron|DLD_uc011kmh.1_Silent_p.P168P|DLD_uc011kmi.1_Silent_p.P92P NM_000108 NP_000099 P09622 DLDH_HUMAN dihydrolipoamide dehydrogenase precursor 191 branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle mitochondrial matrix dihydrolipoyl dehydrogenase activity central_nervous_system(1) 1 NADH(DB00157) CTCCTTTTCCTGGAATCACGG 0.348 32 118 --- --- --- --- PASS DOCK4 9732 broad.mit.edu 37 7 111430512 111430512 + Splice_Site SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:111430512C>T uc003vfx.2 - 31 3584 c.3315_splice c.e31+1 p.Q1105_splice DOCK4_uc011kmm.1_5'Flank|DOCK4_uc003vfw.2_Splice_Site_p.Q546_splice|DOCK4_uc003vfy.2_Splice_Site_p.Q1141_splice NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) CTTCTGCCTACCTGTTTAAAG 0.468 17 32 --- --- --- --- PASS CTTNBP2 83992 broad.mit.edu 37 7 117432076 117432076 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:117432076G>C uc003vjf.2 - 4 1266 c.1174C>G c.(1174-1176)CCA>GCA p.P392A NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 392 Pro-rich. ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GTTGGATCTGGTGTTGAGCCA 0.542 61 158 --- --- --- --- PASS FLNC 2318 broad.mit.edu 37 7 128494159 128494159 + Silent SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:128494159C>A uc003vnz.3 + 40 6825 c.6616C>A c.(6616-6618)CGG>AGG p.R2206R FLNC_uc003voa.3_Silent_p.R2173R NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 2206 Intradomain insert. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 GCGCGAGGTGCGGGTGGAGGA 0.692 34 24 --- --- --- --- PASS TSPAN33 340348 broad.mit.edu 37 7 128802338 128802338 + Silent SNP C A A rs142963022 TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:128802338C>A uc003vop.1 + 3 493 c.264C>A c.(262-264)CGC>CGA p.R88R NM_178562 NP_848657 Q86UF1 TSN33_HUMAN tetraspanin 33 88 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GGTCCCTCCGCGAGAACATCT 0.627 19 34 --- --- --- --- PASS WDR91 29062 broad.mit.edu 37 7 134890724 134890724 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:134890724C>A uc003vsp.2 - 5 743 c.681G>T c.(679-681)TTG>TTT p.L227F WDR91_uc010lmq.2_5'UTR|WDR91_uc010lmr.2_RNA NM_014149 NP_054868 A4D1P6 WDR91_HUMAN WD repeat domain 91 227 breast(2)|ovary(1)|skin(1) 4 CATAAGGAGGCAATTTGTGTT 0.532 61 166 --- --- --- --- PASS TRIM24 8805 broad.mit.edu 37 7 138258362 138258362 + Silent SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:138258362A>G uc003vuc.2 + 12 2204 c.1989A>G c.(1987-1989)TCA>TCG p.S663S TRIM24_uc003vub.2_Silent_p.S629S NM_015905 NP_056989 O15164 TIF1A_HUMAN transcriptional intermediary factor 1 alpha 663 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1) 8 CACCAAATTCATCAGTGCCAT 0.398 47 123 --- --- --- --- PASS TMEM213 155006 broad.mit.edu 37 7 138487700 138487700 + Silent SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:138487700C>T uc010lna.2 + 3 321 c.210C>T c.(208-210)TAC>TAT p.Y70Y TMEM213_uc010lnb.2_Silent_p.Y69Y NM_001085429 NP_001078898 A2RRL7 TM213_HUMAN transmembrane protein 213 70 Extracellular (Potential). integral to membrane 0 TGGACGAGTACGGCTGGATCG 0.622 25 40 --- --- --- --- PASS TAS2R41 259287 broad.mit.edu 37 7 143175842 143175842 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:143175842G>C uc003wdc.1 + 1 877 c.877G>C c.(877-879)GTG>CTG p.V293L uc003wda.2_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN taste receptor, type 2, member 41 293 Cytoplasmic (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity pancreas(1)|skin(1) 2 Melanoma(164;0.15) GCTTCGAAGCGTGTTCTCGCA 0.512 21 43 --- --- --- --- PASS KRBA1 84626 broad.mit.edu 37 7 149420915 149420915 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:149420915G>T uc003wfz.2 + 8 1262 c.863G>T c.(862-864)AGT>ATT p.S288I KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_5'UTR NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 288 ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGGCATCCCAGTCCCTCAGGA 0.612 37 49 --- --- --- --- PASS GIMAP6 474344 broad.mit.edu 37 7 150324891 150324891 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:150324891C>A uc003whn.2 - 3 1219 c.795G>T c.(793-795)GAG>GAT p.E265D GIMAP6_uc003whm.2_Missense_Mutation_p.E185D NM_024711 NP_078987 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 265 GTP binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCCAAGACTCCTCACCAGGCA 0.542 41 102 --- --- --- --- PASS RBM33 155435 broad.mit.edu 37 7 155530995 155530995 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:155530995G>T uc010lqk.1 + 11 2003 c.1635G>T c.(1633-1635)CAG>CAT p.Q545H RBM33_uc011kvv.1_Missense_Mutation_p.Q354H NM_053043 NP_444271 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 545 Pro-rich. nucleotide binding|RNA binding ovary(1) 1 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) ACTTTAGCCAGCCTGGGTCGG 0.612 26 69 --- --- --- --- PASS MNX1 3110 broad.mit.edu 37 7 156798509 156798509 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:156798509T>C uc003wnd.1 - 3 1214 c.911A>G c.(910-912)GAG>GGG p.E304G MNX1_uc003wmz.2_Intron|MNX1_uc003wna.2_Intron|MNX1_uc010lqq.1_Missense_Mutation_p.E97G|MNX1_uc003wnc.1_Missense_Mutation_p.E92G|MNX1_uc010lqr.1_RNA NM_005515 NP_005506 P50219 MNX1_HUMAN motor neuron and pancreas homeobox 1 isoform 1 304 humoral immune response|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGCCGCCTGCTCTTTGGCCTT 0.577 Currarino_syndrome 20 48 --- --- --- --- PASS VIPR2 7434 broad.mit.edu 37 7 158851172 158851172 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr7:158851172C>A uc003woh.2 - 5 641 c.455G>T c.(454-456)AGG>ATG p.R152M VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA NM_003382 NP_003373 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 152 Cytoplasmic (Potential). cell-cell signaling integral to plasma membrane lung(1)|central_nervous_system(1) 2 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) TGCTCCTTACCTGAAGAGGCA 0.448 46 101 --- --- --- --- PASS RP1L1 94137 broad.mit.edu 37 8 10466396 10466396 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr8:10466396G>A uc003wtc.2 - 4 5441 c.5212C>T c.(5212-5214)CCT>TCT p.P1738S NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1738 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TCCACTCCAGGCCCCTGGCTC 0.657 73 172 --- --- --- --- PASS GATA4 2626 broad.mit.edu 37 8 11607694 11607694 + Silent SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr8:11607694G>A uc003wuc.2 + 4 1412 c.858G>A c.(856-858)GCG>GCA p.A286A GATA4_uc003wub.1_Silent_p.A80A|GATA4_uc011kxc.1_Silent_p.A287A NM_002052 NP_002043 P43694 GATA4_HUMAN GATA binding protein 4 286 GATA-type 2. atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) GCCGCAATGCGGAGGGCGAGC 0.637 23 39 --- --- --- --- PASS LPL 4023 broad.mit.edu 37 8 19811777 19811777 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr8:19811777G>T uc003wzk.3 + 5 1058 c.688G>T c.(688-690)GTT>TTT p.V230F NM_000237 NP_000228 P06858 LIPL_HUMAN lipoprotein lipase precursor 230 fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) AGTTGGGCATGTTGACATTTA 0.453 50 112 --- --- --- --- PASS SLC25A37 51312 broad.mit.edu 37 8 23423751 23423751 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr8:23423751C>T uc003xdo.2 + 2 494 c.341C>T c.(340-342)GCA>GTA p.A114V SLC25A37_uc003xdn.1_Missense_Mutation_p.A114V|SLC25A37_uc003xdp.2_RNA|SLC25A37_uc010ltz.2_RNA|SLC25A37_uc003xdq.2_5'Flank NM_016612 NP_057696 Q9NYZ2 MFRN1_HUMAN solute carrier family 25, member 37 114 Solcar 1.|Helical; Name=2; (Potential). ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane 0 Prostate(55;0.114) Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751) ATCATGGGTGCAGGGCCGGCC 0.512 20 44 --- --- --- --- PASS DOCK5 80005 broad.mit.edu 37 8 25222158 25222158 + Missense_Mutation SNP A G G rs139275574 byFrequency TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr8:25222158A>G uc003xeg.2 + 30 3198 c.3061A>G c.(3061-3063)ATA>GTA p.I1021V DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.I735V|DOCK5_uc003xei.2_Missense_Mutation_p.I591V|DOCK5_uc003xej.2_RNA NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1021 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) TCTCCGTGCTATAAATCAGTT 0.408 3 17 --- --- --- --- PASS POTEA 340441 broad.mit.edu 37 8 43147760 43147760 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr8:43147760G>T uc003xpz.1 + 1 176 c.133G>T c.(133-135)GCT>TCT p.A45S POTEA_uc003xqa.1_Missense_Mutation_p.A45S NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 45 ovary(1) 1 CAACATGGGTGCTTGGAGAGA 0.597 42 85 --- --- --- --- PASS MYBL1 4603 broad.mit.edu 37 8 67509581 67509581 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr8:67509581T>C uc003xwj.2 - 5 903 c.496A>G c.(496-498)AAA>GAA p.K166E MYBL1_uc003xwl.2_Missense_Mutation_p.K166E|MYBL1_uc003xwk.2_Missense_Mutation_p.K166E NM_001080416 NP_001073885 P10243 MYBA_HUMAN v-myb myeloblastosis viral oncogene homolog 166 HTH myb-type 3.|H-T-H motif (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1) 3 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) GGAAGTAGTTTGGCAATTTCT 0.383 12 9 --- --- --- --- PASS CSPP1 79848 broad.mit.edu 37 8 68007903 68007903 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr8:68007903G>T uc003xxi.2 + 8 1022 c.991G>T c.(991-993)GAT>TAT p.D331Y CSPP1_uc003xxg.1_Missense_Mutation_p.D323Y|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.D296Y|CSPP1_uc003xxk.2_Missense_Mutation_p.D2Y NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 331 centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) TGAAGAAATGGATGAGAGGTT 0.328 31 67 --- --- --- --- PASS SLC7A13 157724 broad.mit.edu 37 8 87242189 87242189 + Silent SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr8:87242189C>A uc003ydq.1 - 1 416 c.318G>T c.(316-318)GGG>GGT p.G106G SLC7A13_uc003ydr.1_Silent_p.G106G NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN solute carrier family 7, (cationic amino acid 106 Helical; Name=3; (Potential). integral to membrane amino acid transmembrane transporter activity central_nervous_system(1) 1 CAGCAACTACCCCTGACCCCA 0.493 16 43 --- --- --- --- PASS VPS13B 157680 broad.mit.edu 37 8 100871568 100871568 + Missense_Mutation SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr8:100871568C>G uc003yiv.2 + 57 11090 c.10979C>G c.(10978-10980)CCT>CGT p.P3660R VPS13B_uc003yiw.2_Missense_Mutation_p.P3635R NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3660 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CTTGGCAGCCCTGCAAGCCTG 0.567 29 56 --- --- --- --- PASS RGS22 26166 broad.mit.edu 37 8 101074868 101074868 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr8:101074868G>T uc003yjb.1 - 9 1660 c.1465C>A c.(1465-1467)CAT>AAT p.H489N RGS22_uc003yja.1_Missense_Mutation_p.H308N|RGS22_uc003yjc.1_Missense_Mutation_p.H477N|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 489 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TTTCTTAAATGCTCTTCATTC 0.318 28 65 --- --- --- --- PASS TM7SF4 81501 broad.mit.edu 37 8 105361464 105361464 + Silent SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr8:105361464C>A uc003ylx.1 + 2 733 c.684C>A c.(682-684)GGC>GGA p.G228G NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 228 Helical; (Potential). osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) TTGGCACTGGCCTCTTCATGA 0.493 56 96 --- --- --- --- PASS ANGPT1 284 broad.mit.edu 37 8 108264188 108264188 + Silent SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr8:108264188C>A uc003ymn.2 - 9 1860 c.1392G>T c.(1390-1392)GCG>GCT p.A464A ANGPT1_uc011lhv.1_Silent_p.A264A|ANGPT1_uc003ymo.2_Silent_p.A463A NM_001146 NP_001137 Q15389 ANGP1_HUMAN angiopoietin 1 precursor 464 Fibrinogen C-terminal. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding ovary(3)|skin(3)|upper_aerodigestive_tract(1) 7 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) GGTTTTGTCCCGCAGTATAGA 0.408 57 149 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113318247 113318247 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr8:113318247G>T uc003ynu.2 - 51 8219 c.8060C>A c.(8059-8061)CCT>CAT p.P2687H CSMD3_uc003yns.2_Missense_Mutation_p.P1889H|CSMD3_uc003ynt.2_Missense_Mutation_p.P2647H|CSMD3_uc011lhx.1_Missense_Mutation_p.P2583H NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2687 Extracellular (Potential).|Sushi 15. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AACACAGCGAGGGGTCTTGTT 0.343 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 49 136 --- --- --- --- PASS ENPP2 5168 broad.mit.edu 37 8 120592360 120592360 + Silent SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr8:120592360T>C uc003yot.1 - 19 1862 c.1776A>G c.(1774-1776)ACA>ACG p.T592T ENPP2_uc011lic.1_Silent_p.T105T|ENPP2_uc003yor.1_Silent_p.T227T|ENPP2_uc003yos.1_Silent_p.T644T|ENPP2_uc010mdd.1_Silent_p.T592T NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 592 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CCTTACCTTCTGTAGACCCTT 0.343 167 393 --- --- --- --- PASS FBXO32 114907 broad.mit.edu 37 8 124553144 124553144 + Silent SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr8:124553144G>A uc003yqr.2 - 1 303 c.111C>T c.(109-111)CTC>CTT p.L37L FBXO32_uc010mdk.2_Silent_p.L37L NM_058229 NP_478136 Q969P5 FBX32_HUMAN F-box only protein 32 isoform 1 37 skin(3)|breast(2)|lung(1) 6 Lung NSC(37;1.13e-13)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CTCACCTGCTGAGGTCGCTCA 0.687 11 20 --- --- --- --- PASS TATDN1 83940 broad.mit.edu 37 8 125531058 125531058 + Splice_Site SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr8:125531058C>A uc003yrd.2 - 4 244 c.202_splice c.e4+1 p.G68_splice TATDN1_uc003yre.2_Splice_Site|TATDN1_uc010mdm.2_Splice_Site_p.G21_splice|TATDN1_uc003yrf.2_Splice_Site_p.G68_splice NM_032026 NP_114415 Q6P1N9 TATD1_HUMAN TatD DNase domain containing 1 isoform a nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding 0 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) TATGAGGATACCATTTGTTTG 0.303 31 87 --- --- --- --- PASS TATDN1 83940 broad.mit.edu 37 8 125531107 125531107 + Nonsense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr8:125531107C>A uc003yrd.2 - 4 196 c.154G>T c.(154-156)GGA>TGA p.G52* TATDN1_uc003yre.2_RNA|TATDN1_uc010mdm.2_Nonsense_Mutation_p.G5*|TATDN1_uc003yrf.2_Nonsense_Mutation_p.G52* NM_032026 NP_114415 Q6P1N9 TATD1_HUMAN TatD DNase domain containing 1 isoform a 52 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding 0 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) TGTAGATTTCCACCTGTAATC 0.303 34 80 --- --- --- --- PASS ADCY8 114 broad.mit.edu 37 8 131859754 131859754 + Nonsense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr8:131859754C>T uc003ytd.3 - 11 2674 c.2418G>A c.(2416-2418)TGG>TGA p.W806* ADCY8_uc010mds.2_Intron NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 806 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CAAAATCACACCACAGCTGCG 0.348 HNSCC(32;0.087) 10 27 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139323161 139323161 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr8:139323161T>C uc003yuy.2 - 3 251 c.80A>G c.(79-81)TAT>TGT p.Y27C FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 27 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GATCTGGTAATACCTAAGAAA 0.468 HNSCC(54;0.14) 35 67 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139614404 139614404 + Splice_Site SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr8:139614404T>A uc003yvd.2 - 60 4588 c.4141_splice c.e60-1 p.G1381_splice COL22A1_uc011ljo.1_Splice_Site_p.G661_splice NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) AGGGACCCCCTGCAAGGAGAA 0.572 HNSCC(7;0.00092) 22 58 --- --- --- --- PASS RHPN1 114822 broad.mit.edu 37 8 144463991 144463991 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr8:144463991G>C uc003yyb.2 + 14 1783 c.1650G>C c.(1648-1650)AAG>AAC p.K550N NM_052924 NP_443156 Q8TCX5 RHPN1_HUMAN rhophilin 1 575 PDZ. signal transduction intracellular large_intestine(1) 1 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) CTGGCCTGAAGGAGGGCGACT 0.677 6 18 --- --- --- --- PASS CPSF1 29894 broad.mit.edu 37 8 145623947 145623947 + Missense_Mutation SNP A T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr8:145623947A>T uc003zcj.2 - 18 1795 c.1720T>A c.(1720-1722)TTC>ATC p.F574I NM_013291 NP_037423 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 574 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding skin(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) AGAATCAGGAATCCGTGTCTG 0.682 9 222 --- --- --- --- PASS DOCK8 81704 broad.mit.edu 37 9 396932 396932 + Missense_Mutation SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr9:396932A>G uc003zgf.2 + 25 3230 c.3118A>G c.(3118-3120)AAG>GAG p.K1040E DOCK8_uc010mgu.2_Missense_Mutation_p.K342E|DOCK8_uc010mgv.2_Missense_Mutation_p.K940E|DOCK8_uc010mgw.1_Missense_Mutation_p.K342E|DOCK8_uc003zgk.2_Missense_Mutation_p.K498E NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1040 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) AAAACCACAGAAGGTAACtgt 0.239 89 31 --- --- --- --- PASS RCL1 10171 broad.mit.edu 37 9 4844532 4844532 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr9:4844532G>T uc003zis.2 + 7 976 c.718G>T c.(718-720)GGC>TGC p.G240C RCL1_uc003zit.2_Missense_Mutation_p.G82C|RCL1_uc010mhk.1_Missense_Mutation_p.G82C|RCL1_uc010mhl.1_Missense_Mutation_p.G54C NM_005772 NP_005763 Q9Y2P8 RCL1_HUMAN RNA terminal phosphate cyclase-like 1 240 ribosome biogenesis|RNA processing nucleolus RNA-3'-phosphate cyclase activity 0 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0244) CAGGTCTCCGGGCTTTGGGTT 0.517 173 47 --- --- --- --- PASS DENND4C 55667 broad.mit.edu 37 9 19316473 19316473 + Silent SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr9:19316473C>T uc003znq.2 + 7 871 c.838C>T c.(838-840)CTA>TTA p.L280L DENND4C_uc011lnc.1_5'UTR NM_017925 NP_060395 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 280 integral to membrane ovary(1)|skin(1) 2 GTGCAAAAATCTACTTAGCAC 0.323 12 79 --- --- --- --- PASS FANCG 2189 broad.mit.edu 37 9 35076575 35076575 + Missense_Mutation SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr9:35076575C>G uc003zwb.1 - 8 1422 c.930G>C c.(928-930)TTG>TTC p.L310F FANCG_uc003zwa.1_Missense_Mutation_p.L52F|FANCG_uc010mkj.1_Missense_Mutation_p.L52F|FANCG_uc011lot.1_Missense_Mutation_p.L310F NM_004629 NP_004620 O15287 FANCG_HUMAN Fanconi anemia, complementation group G 310 cell cycle checkpoint|DNA repair|mitochondrion organization mitochondrion|nucleoplasm damaged DNA binding|protein binding ovary(2)|large_intestine(1)|lung(1) 4 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) ATGGGACATTCAAGGCCTAAA 0.443 Mis|N|F|S AML|leukemia Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 14 114 --- --- --- --- PASS RECK 8434 broad.mit.edu 37 9 36087893 36087893 + Silent SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr9:36087893T>C uc003zyv.2 + 9 926 c.840T>C c.(838-840)CCT>CCC p.P280P RECK_uc003zyw.2_Silent_p.P152P|RECK_uc003zyx.2_RNA NM_021111 NP_066934 O95980 RECK_HUMAN RECK protein precursor 280 5 X Knot repeats. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) TACACCCTCCTCCCTCTACAG 0.443 57 46 --- --- --- --- PASS MELK 9833 broad.mit.edu 37 9 36665428 36665428 + Silent SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr9:36665428T>C uc003zzn.2 + 14 1396 c.1258T>C c.(1258-1260)TTA>CTA p.L420L MELK_uc011lpm.1_Silent_p.L289L|MELK_uc011lpn.1_Silent_p.L379L|MELK_uc011lpo.1_Silent_p.L226L|MELK_uc010mll.2_Silent_p.L388L|MELK_uc011lpp.1_Silent_p.L372L|MELK_uc010mlm.2_Silent_p.L349L|MELK_uc011lpq.1_Silent_p.L226L|MELK_uc011lpr.1_Silent_p.L349L|MELK_uc011lps.1_Silent_p.L340L NM_014791 NP_055606 Q14680 MELK_HUMAN maternal embryonic leucine zipper kinase 420 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06) STAD - Stomach adenocarcinoma(86;0.228) TGCAAATAAATTAAAGAACAA 0.348 32 97 --- --- --- --- PASS ANKRD20A3 441425 broad.mit.edu 37 9 67951985 67951985 + Silent SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr9:67951985A>G uc004aeu.2 + 9 1060 c.948A>G c.(946-948)AAA>AAG p.K316K ANKRD20A3_uc010mnn.2_Silent_p.K315K NM_001012419 NP_001012419 Q5VUR7 A20A3_HUMAN ankyrin repeat domain 20 family, member A3 316 0 CGCATGAAAAAGGAAACAGAA 0.303 105 168 --- --- --- --- PASS VPS13A 23230 broad.mit.edu 37 9 79917921 79917921 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr9:79917921G>T uc004akr.2 + 34 4163 c.3903G>T c.(3901-3903)TGG>TGT p.W1301C VPS13A_uc004akp.3_Missense_Mutation_p.W1301C|VPS13A_uc004akq.3_Missense_Mutation_p.W1301C|VPS13A_uc004aks.2_Missense_Mutation_p.W1262C|VPS13A_uc010mpo.1_5'UTR NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 1301 TPR 5. Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 ATTTATGCTGGGAGTGGTACC 0.363 23 257 --- --- --- --- PASS PSAT1 29968 broad.mit.edu 37 9 80919698 80919698 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr9:80919698G>A uc004ala.2 + 4 307 c.239G>A c.(238-240)TGC>TAC p.C80Y PSAT1_uc004alb.2_Missense_Mutation_p.C80Y NM_058179 NP_478059 Q9Y617 SERC_HUMAN phosphoserine aminotransferase 1 isoform 1 80 Pyridoxal phosphate binding (By similarity). L-serine biosynthetic process|pyridoxine biosynthetic process O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(1) 1 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) GGAGGTGGGTGCGGCCAGTTC 0.483 18 215 --- --- --- --- PASS RASEF 158158 broad.mit.edu 37 9 85616037 85616037 + Missense_Mutation SNP C A A rs140659178 byFrequency TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr9:85616037C>A uc004amo.1 - 10 1472 c.1211G>T c.(1210-1212)CGC>CTC p.R404L NM_152573 NP_689786 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 404 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 ATAGGAAGAGCGGGATGACCT 0.493 59 34 --- --- --- --- PASS TDRD7 23424 broad.mit.edu 37 9 100204011 100204011 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr9:100204011G>A uc004axj.2 + 6 934 c.709G>A c.(709-711)GTT>ATT p.V237I TDRD7_uc011lux.1_Missense_Mutation_p.V163I NM_014290 NP_055105 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 237 Lotus/OST-HTH 2. lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(62;0.158) AATGGATGAGGTTCAAAATCG 0.284 5 120 --- --- --- --- PASS GRIN3A 116443 broad.mit.edu 37 9 104499756 104499756 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr9:104499756G>T uc004bbp.1 - 1 1107 c.506C>A c.(505-507)CCT>CAT p.P169H GRIN3A_uc004bbq.1_Missense_Mutation_p.P169H NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 169 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TGGCGAACTAGGGGAGGAGAA 0.602 50 25 --- --- --- --- PASS SVEP1 79987 broad.mit.edu 37 9 113149732 113149732 + Missense_Mutation SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr9:113149732C>G uc010mtz.2 - 42 10230 c.9893G>C c.(9892-9894)AGG>ACG p.R3298T SVEP1_uc010mty.2_Missense_Mutation_p.R1224T NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 3298 Sushi 32. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 AGTTTCACACCTGGTCTCTAA 0.388 24 32 --- --- --- --- PASS COL27A1 85301 broad.mit.edu 37 9 117069976 117069976 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr9:117069976G>T uc011lxl.1 + 59 5135 c.5135G>T c.(5134-5136)GGC>GTC p.G1712V COL27A1_uc004bii.2_RNA|COL27A1_uc011lxn.1_Missense_Mutation_p.G27V NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 1712 Fibrillar collagen NC1. cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 CCAAACCTTGGCTGCTCCTCT 0.562 111 80 --- --- --- --- PASS TLR4 7099 broad.mit.edu 37 9 120475243 120475243 + Silent SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr9:120475243C>A uc004bjz.2 + 3 1128 c.837C>A c.(835-837)GGC>GGA p.G279G TLR4_uc004bka.2_Silent_p.G239G|TLR4_uc004bkb.2_Silent_p.G79G NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 279 Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 CTCTAGAGGGCCTGTGCAATT 0.363 156 68 --- --- --- --- PASS OLFML2A 169611 broad.mit.edu 37 9 127563756 127563756 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr9:127563756G>C uc004bov.2 + 5 846 c.733G>C c.(733-735)GAC>CAC p.D245H OLFML2A_uc010mwr.1_Missense_Mutation_p.D209H|OLFML2A_uc004bow.2_Missense_Mutation_p.D31H NM_182487 NP_872293 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A precursor 245 0 AAGCTTTGCAGACAGAGGCCT 0.542 14 174 --- --- --- --- PASS ZNF79 7633 broad.mit.edu 37 9 130207074 130207074 + Silent SNP G T T rs61747648 byFrequency TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr9:130207074G>T uc004bqw.3 + 5 1509 c.1095G>T c.(1093-1095)GCG>GCT p.A365A ZNF79_uc011maf.1_Silent_p.A341A|ZNF79_uc011mag.1_Silent_p.A341A NM_007135 NP_009066 Q15937 ZNF79_HUMAN zinc finger protein 79 365 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 GATGTGCCGCGTGTGGGAAGG 0.567 79 79 --- --- --- --- PASS SH2D3C 10044 broad.mit.edu 37 9 130536708 130536708 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr9:130536708G>T uc004bsc.2 - 2 218 c.76C>A c.(76-78)CTC>ATC p.L26I SH2D3C_uc004bsd.1_5'UTR NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C isoform a 26 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity ovary(1) 1 GACCGAGGGAGGTTGGAGAGA 0.488 8 72 --- --- --- --- PASS NTNG2 84628 broad.mit.edu 37 9 135114558 135114558 + Silent SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr9:135114558C>T uc004cbh.2 + 6 1898 c.1122C>T c.(1120-1122)GTC>GTT p.V374V NM_032536 NP_115925 Q96CW9 NTNG2_HUMAN netrin G2 precursor 374 Laminin EGF-like 2. axonogenesis anchored to plasma membrane 0 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) TGACCTGCGTCAGCTGCAAGC 0.582 97 56 --- --- --- --- PASS GFI1B 8328 broad.mit.edu 37 9 135862758 135862758 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr9:135862758C>A uc004ccg.2 + 3 341 c.190C>A c.(190-192)CCG>ACG p.P64T GFI1B_uc010mzy.2_Missense_Mutation_p.P64T NM_004188 NP_004179 Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription 64 cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) CAAACGAGAGCCGGAGCTGGA 0.617 15 94 --- --- --- --- PASS C9orf116 138162 broad.mit.edu 37 9 138387325 138387325 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr9:138387325C>T uc004cft.1 - 3 423 c.359G>A c.(358-360)CGG>CAG p.R120Q C9orf116_uc004cfs.1_3'UTR|C9orf116_uc004cfu.1_RNA NM_001048265 NP_001041730 Q5BN46 CI116_HUMAN hypothetical protein LOC138162 isoform 1 120 0 OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05) GAAGTTGAGCCGGTCACAGGA 0.547 10 189 --- --- --- --- PASS NOTCH1 4851 broad.mit.edu 37 9 139401756 139401756 + Splice_Site SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr9:139401756C>A uc004chz.2 - 22 3643 c.3643_splice c.e22+1 p.G1215_splice NOTCH1_uc004cia.1_Splice_Site_p.G445_splice NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCGGCCCTTACCCTGAGTGCC 0.692 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 44 31 --- --- --- --- PASS NOTCH1 4851 broad.mit.edu 37 9 139401757 139401757 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr9:139401757C>A uc004chz.2 - 22 3643 c.3643G>T c.(3643-3645)GGT>TGT p.G1215C NOTCH1_uc004cia.1_Missense_Mutation_p.G445C NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1215 Extracellular (Potential).|EGF-like 31; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CGGCCCTTACCCTGAGTGCCC 0.692 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 44 31 --- --- --- --- PASS SFMBT2 57713 broad.mit.edu 37 10 7409832 7409832 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr10:7409832C>A uc009xio.1 - 4 306 c.215G>T c.(214-216)AGC>ATC p.S72I SFMBT2_uc001ijn.1_Missense_Mutation_p.S72I|SFMBT2_uc010qay.1_Missense_Mutation_p.S72I|SFMBT2_uc001ijo.1_Missense_Mutation_p.S72I NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 72 MBT 1. regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 CTGGAAGTTGCTCTGAATGCT 0.433 18 24 --- --- --- --- PASS VIM 7431 broad.mit.edu 37 10 17275867 17275867 + Silent SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr10:17275867T>A uc001iou.2 + 5 1232 c.819T>A c.(817-819)CGT>CGA p.R273R VIM_uc001iov.1_Silent_p.R273R|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Silent_p.R273R|VIM_uc001ioy.1_Silent_p.R273R|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Silent_p.R273R|VIM_uc001ipc.1_Silent_p.R273R NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 273 Rod.|Coil 2. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 GTGACGTACGTCAGCAATATG 0.498 31 11 --- --- --- --- PASS RASSF4 83937 broad.mit.edu 37 10 45467291 45467291 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr10:45467291C>A uc001jbo.2 + 3 267 c.133C>A c.(133-135)CGT>AGT p.R45S RASSF4_uc001jbp.2_Missense_Mutation_p.R76S|RASSF4_uc009xmn.2_Intron|RASSF4_uc001jbq.2_5'UTR NM_032023 NP_114412 Q9H2L5 RASF4_HUMAN Ras association domain family 4 45 cell cycle|signal transduction protein binding large_intestine(1) 1 GCTGAGACACCGTGAGGTGAG 0.323 40 19 --- --- --- --- PASS RHOBTB1 9886 broad.mit.edu 37 10 62652608 62652608 + Missense_Mutation SNP C A A rs141139124 by1000genomes TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr10:62652608C>A uc001jli.2 - 6 880 c.442G>T c.(442-444)GAC>TAC p.D148Y RHOBTB1_uc001jlh.2_Missense_Mutation_p.D148Y|RHOBTB1_uc001jlj.2_Missense_Mutation_p.D148Y|RHOBTB1_uc001jlk.2_Missense_Mutation_p.D148Y|RHOBTB1_uc009xpe.1_Intron NM_014836 NP_055651 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 148 Rho-like. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding upper_aerodigestive_tract(1) 1 Prostate(12;0.0112) GCTTCCAGGTCGGCATAGCGG 0.502 57 27 --- --- --- --- PASS NRG3 10718 broad.mit.edu 37 10 84745017 84745017 + Nonsense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr10:84745017G>T uc001kco.2 + 9 1774 c.1747G>T c.(1747-1749)GAG>TAG p.E583* NRG3_uc010qlz.1_Nonsense_Mutation_p.E582*|NRG3_uc001kcp.2_Nonsense_Mutation_p.E386*|NRG3_uc001kcq.2_Nonsense_Mutation_p.E233*|NRG3_uc001kcr.2_Nonsense_Mutation_p.E257* NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 607 Cytoplasmic (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) AGTGGGTTTAGAGGAAACCTG 0.458 130 88 --- --- --- --- PASS PTEN 5728 broad.mit.edu 37 10 89725055 89725055 + Nonsense_Mutation SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr10:89725055C>G uc001kfb.2 + 10 2069 c.1038C>G c.(1036-1038)TAC>TAG p.Y346* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 346 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.Y346*(1)|p.G165_*404del(1)|p.Y346fs*1(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TGAAGCTGTACTTCACAAAAA 0.318 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 29 10 --- --- --- --- PASS C10orf79 80217 broad.mit.edu 37 10 105893440 105893440 + Missense_Mutation SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr10:105893440C>G uc001kxw.2 - 35 4650 c.4534G>C c.(4534-4536)GAA>CAA p.E1512Q C10orf79_uc009xxq.2_Missense_Mutation_p.E791Q NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 1512 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) TTTAGATCTTCCCTTTCCATC 0.353 19 75 --- --- --- --- PASS C10orf137 26098 broad.mit.edu 37 10 127438068 127438068 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr10:127438068G>A uc001liq.1 + 22 3504 c.3211G>A c.(3211-3213)GAT>AAT p.D1071N C10orf137_uc001lio.1_Missense_Mutation_p.D1037N|C10orf137_uc001lip.1_Missense_Mutation_p.D775N|C10orf137_uc001lis.1_Missense_Mutation_p.D397N|C10orf137_uc001lit.1_5'UTR NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 1071 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) GCTGCTGAAAGATGCTCCCTG 0.443 61 49 --- --- --- --- PASS C11orf35 256329 broad.mit.edu 37 11 557899 557899 + Missense_Mutation SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:557899C>G uc001lpx.2 - 5 603 c.540G>C c.(538-540)CAG>CAC p.Q180H uc001lpy.2_RNA|uc001lpz.2_5'Flank|RASSF7_uc001lqa.2_5'Flank NM_173573 NP_775844 Q8IXW0 CK035_HUMAN hypothetical protein LOC256329 180 pancreas(1) 1 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CACTGCCAGTCTGGGATCGTA 0.692 5 15 --- --- --- --- PASS KRTAP5-5 439915 broad.mit.edu 37 11 1651512 1651512 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:1651512G>T uc001lty.2 + 1 480 c.442G>T c.(442-444)GGC>TGC p.G148C NM_001001480 NP_001001480 Q701N2 KRA55_HUMAN keratin associated protein 5-5 148 8 X 4 AA repeats of C-C-X-P. keratin filament lung(1) 1 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GTCCAAGGGGGGCTGTGGTTC 0.677 16 26 --- --- --- --- PASS RRM1 6240 broad.mit.edu 37 11 4154832 4154832 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:4154832G>T uc001lyw.3 + 17 2264 c.1945G>T c.(1945-1947)GGC>TGC p.G649C RRM1_uc009yej.2_RNA|RRM1_uc009yei.2_Missense_Mutation_p.G609C|RRM1_uc010qyc.1_Missense_Mutation_p.G552C|RRM1_uc010qyd.1_Missense_Mutation_p.G311C NM_001033 NP_001024 P23921 RIR1_HUMAN ribonucleoside-diphosphate reductase M1 chain 649 deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex ATP binding|ribonucleoside-diphosphate reductase activity skin(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205) Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005) TACCGAGCGGGGCCTATGGCA 0.388 27 60 --- --- --- --- PASS OR51F1 256892 broad.mit.edu 37 11 4790700 4790700 + Missense_Mutation SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:4790700T>A uc010qyl.1 - 1 448 c.448A>T c.(448-450)ATG>TTG p.M150L NM_001004752 NP_001004752 A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, 150 integral to membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) CGTGTAATCATCAGAAGACCC 0.428 39 61 --- --- --- --- PASS OR51G2 81282 broad.mit.edu 37 11 4936228 4936228 + Silent SNP A T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:4936228A>T uc001lzr.1 - 1 666 c.666T>A c.(664-666)TCT>TCA p.S222S NM_001005238 NP_001005238 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, 222 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TCAGAGCATAAGAGAAGAGGA 0.522 22 66 --- --- --- --- PASS OR51V1 283111 broad.mit.edu 37 11 5221333 5221333 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:5221333C>A uc010qyz.1 - 1 598 c.598G>T c.(598-600)GAC>TAC p.D200Y NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, 200 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AATCGGATGTCTGAACAGGCT 0.418 36 62 --- --- --- --- PASS HBG1 3047 broad.mit.edu 37 11 5270650 5270650 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:5270650T>C uc001mah.1 - 2 316 c.263A>G c.(262-264)CAG>CGG p.Q88R HBG2_uc001mai.1_Intron NM_000559 NP_000550 P69891 HBG1_HUMAN A-gamma globin 88 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity|protein binding 0 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTCACTCAGCTGGGCAAAGGT 0.522 5 55 --- --- --- --- PASS HBG2 3048 broad.mit.edu 37 11 5275574 5275574 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:5275574T>C uc001mai.1 - 2 700 c.263A>G c.(262-264)CAG>CGG p.Q88R HBG2_uc001mak.1_RNA|HBG2_uc001maj.1_Missense_Mutation_p.Q88R NM_000559 NP_000550 P69892 HBG2_HUMAN A-gamma globin 88 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity skin(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTCACTCAGCTGGGCAAAGGT 0.512 26 158 --- --- --- --- PASS OR56A3 390083 broad.mit.edu 37 11 5969255 5969255 + Nonsense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:5969255C>T uc010qzt.1 + 1 679 c.679C>T c.(679-681)CGA>TGA p.R227* NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, 227 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTTCATTCTGCGAGCTGTGCT 0.517 69 157 --- --- --- --- PASS OR56A3 390083 broad.mit.edu 37 11 5969377 5969377 + Silent SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:5969377G>T uc010qzt.1 + 1 801 c.801G>T c.(799-801)GTG>GTT p.V267V NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, 267 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCACACATGTGGCTAAGAAGA 0.522 72 197 --- --- --- --- PASS OR52L1 338751 broad.mit.edu 37 11 6007834 6007834 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:6007834C>A uc001mcd.2 - 1 382 c.327G>T c.(325-327)GAG>GAT p.E109D NM_001005173 NP_001005173 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, 109 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTACCCAATCTCGTGGGCAT 0.542 18 27 --- --- --- --- PASS DCHS1 8642 broad.mit.edu 37 11 6651098 6651098 + Nonsense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:6651098C>A uc001mem.1 - 11 5250 c.4840G>T c.(4840-4842)GAG>TAG p.E1614* NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 1614 Cadherin 15.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGTACGTGCTCAGCTCGTTGT 0.662 26 55 --- --- --- --- PASS OR10A3 26496 broad.mit.edu 37 11 7960523 7960523 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:7960523G>A uc010rbi.1 - 1 545 c.545C>T c.(544-546)CCC>CTC p.P182L NM_001003745 NP_001003745 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, 182 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TAGTACCGGGGGAGTCTCACA 0.438 44 70 --- --- --- --- PASS EIF4G2 1982 broad.mit.edu 37 11 10827516 10827516 + Silent SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:10827516G>A uc001mjc.2 - 4 603 c.186C>T c.(184-186)TCC>TCT p.S62S EIF4G2_uc001mjb.2_5'UTR|EIF4G2_uc009ygf.2_5'UTR|EIF4G2_uc001mjd.2_Silent_p.S62S|EIF4G2_uc001mjf.1_5'UTR NM_001418 NP_001409 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 62 cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TGTTTGCTGCGGAGTTGTCAT 0.433 102 229 --- --- --- --- PASS KCNC1 3746 broad.mit.edu 37 11 17793277 17793277 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:17793277C>A uc001mnk.3 + 2 691 c.636C>A c.(634-636)CAC>CAA p.H212Q KCNC1_uc009yhc.1_Missense_Mutation_p.H212Q NM_004976 NP_004967 P48547 KCNC1_HUMAN Shaw-related voltage-gated potassium channel 212 voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1) 1 TGGAGACCCACGAGCGCTTCA 0.577 48 106 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 11 30926552 30926552 + RNA SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:30926552C>A uc001mss.1 - 9 c.1367G>T uc009yjk.1_Missense_Mutation_p.G870W|uc009yjj.1_RNA Homo sapiens mRNA for KIAA1493 protein, partial cds. TTACGATACCCATCCCCATTT 0.458 32 70 --- --- --- --- PASS WIT1 51352 broad.mit.edu 37 11 32460662 32460662 + RNA SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:32460662C>G uc010rec.1 + 2 c.1380C>G WIT1_uc010red.1_RNA|WIT1_uc010ree.1_Intron NR_023920 full-length cDNA clone CS0DC024YP12 of Neuroblastoma Cot 25-normalized of Homo sapiens (human). 0 Breast(20;0.247) AGTGCGCACGCCTGGGCCGCC 0.667 10 19 --- --- --- --- PASS SLC1A2 6506 broad.mit.edu 37 11 35313909 35313909 + Missense_Mutation SNP A C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:35313909A>C uc001mwd.2 - 7 1608 c.1016T>G c.(1015-1017)GTG>GGG p.V339G SLC1A2_uc001mwe.2_Missense_Mutation_p.V330G|SLC1A2_uc010rev.1_Missense_Mutation_p.V339G NM_004171 NP_004162 P43004 EAA2_HUMAN excitatory amino acid transporter 2 339 Helical; (Potential). D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity ovary(2)|central_nervous_system(1) 3 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) L-Glutamic Acid(DB00142) TTTCCTGGTCACTACAAAGTA 0.473 72 166 --- --- --- --- PASS RAG2 5897 broad.mit.edu 37 11 36615433 36615433 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:36615433C>A uc001mwv.3 - 2 474 c.286G>T c.(286-288)GGG>TGG p.G96W C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank NM_000536 NP_000527 P55895 RAG2_HUMAN recombination activating gene 2 96 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding skin(3)|ovary(1)|pancreas(1) 5 all_lung(20;0.226) all_hematologic(20;0.00756) GGTGTTTTCCCTCCATGGATG 0.423 Familial_Hemophagocytic_Lymphohistiocytosis 51 139 --- --- --- --- PASS TTC17 55761 broad.mit.edu 37 11 43411371 43411371 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:43411371G>T uc001mxi.2 + 3 433 c.419G>T c.(418-420)AGT>ATT p.S140I TTC17_uc001mxh.2_Missense_Mutation_p.S140I|TTC17_uc010rfj.1_Missense_Mutation_p.S83I NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 140 binding ovary(5) 5 AAAGACATCAGGTAAAGAAGT 0.358 52 92 --- --- --- --- PASS MTCH2 23788 broad.mit.edu 37 11 47660338 47660338 + Silent SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:47660338G>A uc010rho.1 - 3 381 c.192C>T c.(190-192)ATC>ATT p.I64I MTCH2_uc001nge.2_5'UTR|MTCH2_uc010rhp.1_5'UTR NM_014342 NP_055157 Q9Y6C9 MTCH2_HUMAN mitochondrial carrier 2 64 Solcar 1. transport integral to membrane|mitochondrial inner membrane 0 GCCTCCCATCGATACTGGCAA 0.433 21 78 --- --- --- --- PASS OR4X2 119764 broad.mit.edu 37 11 48267239 48267239 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:48267239G>T uc001ngs.1 + 1 584 c.584G>T c.(583-585)GGA>GTA p.G195V NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, 195 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GTTGCCAATGGAGGCACCCTG 0.502 98 206 --- --- --- --- PASS OR4A47 403253 broad.mit.edu 37 11 48510770 48510770 + Silent SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:48510770G>C uc010rhx.1 + 1 426 c.426G>C c.(424-426)CTG>CTC p.L142L NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 142 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GTGTTGTGCTGCTGGTAGTGT 0.448 63 100 --- --- --- --- PASS OR4C13 283092 broad.mit.edu 37 11 49974765 49974765 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:49974765C>A uc010rhz.1 + 1 791 c.791C>A c.(790-792)CCC>CAC p.P264H NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, 264 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 GCTACTTTACCCATTGATAAA 0.408 76 166 --- --- --- --- PASS OR4A15 81328 broad.mit.edu 37 11 55135439 55135439 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:55135439C>T uc010rif.1 + 1 80 c.80C>T c.(79-81)TCA>TTA p.S27L NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 27 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CCAACACCTTCAGAAGAACAC 0.388 34 52 --- --- --- --- PASS OR4A15 81328 broad.mit.edu 37 11 55135835 55135835 + Missense_Mutation SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:55135835A>G uc010rif.1 + 1 476 c.476A>G c.(475-477)CAT>CGT p.H159R NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 159 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AAGCCTCTTCATGAATTGATC 0.413 18 308 --- --- --- --- PASS OR4C15 81309 broad.mit.edu 37 11 55321947 55321947 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:55321947G>T uc010rig.1 + 1 165 c.165G>T c.(163-165)ATG>ATT p.M55I NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 1 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TGGGAAACATGCAAAACCAAA 0.363 HNSCC(20;0.049) 70 171 --- --- --- --- PASS OR8K5 219453 broad.mit.edu 37 11 55927225 55927225 + Nonsense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:55927225G>C uc010rja.1 - 1 569 c.569C>G c.(568-570)TCA>TGA p.S190* NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, 190 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) CTGTGCATTTGAGCAAAGCAT 0.338 50 80 --- --- --- --- PASS OR9G4 283189 broad.mit.edu 37 11 56510514 56510514 + Silent SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:56510514G>T uc010rjo.1 - 1 774 c.774C>A c.(772-774)TCC>TCA p.S258S NM_001005284 NP_001005284 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, 258 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 AGATGAGGTGGGAAGCACAGG 0.468 45 90 --- --- --- --- PASS OR9I1 219954 broad.mit.edu 37 11 57886368 57886368 + Silent SNP G T T rs138832584 TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:57886368G>T uc001nml.1 - 1 549 c.549C>A c.(547-549)CCC>CCA p.P183P OR9Q1_uc001nmj.2_Intron NM_001005211 NP_001005211 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, 183 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Breast(21;0.0589) GCTTCAGCAGGGGTGGGAGGT 0.483 28 50 --- --- --- --- PASS OR5B2 390190 broad.mit.edu 37 11 58189970 58189970 + Silent SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:58189970G>A uc010rkg.1 - 1 765 c.765C>T c.(763-765)TTC>TTT p.F255F NM_001005566 NP_001005566 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, 255 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) GCAAGTAGATGAAGATTACTG 0.488 20 60 --- --- --- --- PASS CD5 921 broad.mit.edu 37 11 60886821 60886821 + Silent SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:60886821C>A uc009ynk.2 + 5 682 c.579C>A c.(577-579)ACC>ACA p.T193T NM_014207 NP_055022 P06127 CD5_HUMAN CD5 molecule precursor 193 Extracellular (Potential).|SRCR 2. cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity ovary(1) 1 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) AGGACAAGACCCAGGACCTGG 0.622 38 97 --- --- --- --- PASS CD5 921 broad.mit.edu 37 11 60893276 60893276 + Missense_Mutation SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:60893276A>G uc009ynk.2 + 10 1556 c.1453A>G c.(1453-1455)AGT>GGT p.S485G NM_014207 NP_055022 P06127 CD5_HUMAN CD5 molecule precursor 485 Cytoplasmic (Potential). cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity ovary(1) 1 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) CTCCTCCGACAGTGACTATGA 0.602 18 32 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62293633 62293633 + Silent SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:62293633T>A uc001ntl.2 - 5 8556 c.8256A>T c.(8254-8256)GCA>GCT p.A2752A AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2752 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CAACATCAGGTGCGTCAATGT 0.498 118 197 --- --- --- --- PASS SLC3A2 6520 broad.mit.edu 37 11 62653041 62653041 + Silent SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:62653041G>A uc001nwd.2 + 10 1631 c.1407G>A c.(1405-1407)GGG>GGA p.G469G SLC3A2_uc001nwb.2_Silent_p.G500G|SLC3A2_uc001nwc.2_Silent_p.G470G|SLC3A2_uc001nwe.2_Silent_p.G438G|SLC3A2_uc001nwf.2_Silent_p.G407G|SLC3A2_uc001nwg.2_Silent_p.G368G NM_002394 NP_002385 P08195 4F2_HUMAN solute carrier family 3, member 2 isoform c 469 Extracellular (Potential). blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding 0 TCAGCTACGGGGATGAGATTG 0.527 142 373 --- --- --- --- PASS PCNXL3 399909 broad.mit.edu 37 11 65384478 65384478 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:65384478C>A uc001oey.2 + 2 337 c.337C>A c.(337-339)CCC>ACC p.P113T MAP3K11_uc001oew.2_5'Flank NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 113 integral to membrane 0 CAGCAATCCACCCAGGTGGGT 0.617 9 15 --- --- --- --- PASS NDUFS8 4728 broad.mit.edu 37 11 67799650 67799650 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:67799650G>A uc001onc.2 + 2 139 c.32G>A c.(31-33)CGG>CAG p.R11Q NDUFS8_uc010rpz.1_Missense_Mutation_p.R11Q|NDUFS8_uc009ysb.1_Intron|NDUFS8_uc009ysc.1_Missense_Mutation_p.R11Q NM_002496 NP_002487 O00217 NDUS8_HUMAN NADH dehydrogenase ubiquinone Fe-S 8 precursor 11 mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity skin(1) 1 NADH(DB00157) ATGCTGCTGCGGGCCCTGGCC 0.607 26 269 --- --- --- --- PASS PPFIA1 8500 broad.mit.edu 37 11 70172916 70172916 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:70172916G>A uc001opo.2 + 7 1120 c.922G>A c.(922-924)GTC>ATC p.V308I PPFIA1_uc001opn.1_Missense_Mutation_p.V308I|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 308 Potential. cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) GCAACGAGATGTCCGTGAAGT 0.373 39 70 --- --- --- --- PASS NUMA1 4926 broad.mit.edu 37 11 71730594 71730594 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:71730594C>T uc001orl.1 - 9 702 c.530G>A c.(529-531)AGG>AAG p.R177K NUMA1_uc001ork.1_Missense_Mutation_p.R177K|NUMA1_uc001orm.1_Missense_Mutation_p.R177K|NUMA1_uc009ysx.1_Missense_Mutation_p.R177K|NUMA1_uc001oro.1_Missense_Mutation_p.R177K|NUMA1_uc009ysy.1_Missense_Mutation_p.R177K|NUMA1_uc001orp.2_Missense_Mutation_p.R177K|NUMA1_uc001orq.2_Missense_Mutation_p.R177K NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 177 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 GCGAATCTCCCTCTTGGCCTG 0.522 T RARA APL 4 189 --- --- --- --- PASS DNAJB13 374407 broad.mit.edu 37 11 73670544 73670544 + Nonsense_Mutation SNP A T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:73670544A>T uc001ouo.2 + 3 929 c.178A>T c.(178-180)AAG>TAG p.K60* NM_153614 NP_705842 P59910 DJB13_HUMAN testis spermatogenesis apoptosis-related protein 60 J. apoptosis|protein folding|spermatogenesis heat shock protein binding|unfolded protein binding 0 Breast(11;7.42e-05) CACAGCCATGAAGAGAGGCAT 0.547 26 48 --- --- --- --- PASS PGM2L1 283209 broad.mit.edu 37 11 74053659 74053659 + Missense_Mutation SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:74053659C>G uc001ovb.1 - 12 1775 c.1479G>C c.(1477-1479)TTG>TTC p.L493F NM_173582 NP_775853 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 493 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity ovary(1) 1 Breast(11;3.32e-06) GTTCATAACACAAGAAATAGG 0.279 56 125 --- --- --- --- PASS PRKRIR 5612 broad.mit.edu 37 11 76063707 76063707 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:76063707T>C uc001oxh.1 - 5 487 c.487A>G c.(487-489)AAA>GAA p.K163E PRKRIR_uc010rrz.1_5'UTR NM_004705 NP_004696 O43422 P52K_HUMAN protein-kinase, interferon-inducible double 163 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity ovary(2)|pancreas(1) 3 AGGTATTCTTTGTTTTCCTTC 0.408 21 52 --- --- --- --- PASS PRKRIR 5612 broad.mit.edu 37 11 76063827 76063827 + Missense_Mutation SNP A C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:76063827A>C uc001oxh.1 - 5 367 c.367T>G c.(367-369)TCT>GCT p.S123A PRKRIR_uc010rrz.1_5'UTR NM_004705 NP_004696 O43422 P52K_HUMAN protein-kinase, interferon-inducible double 123 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity ovary(2)|pancreas(1) 3 TCCTGCTCAGAAGTTTCATCA 0.338 11 35 --- --- --- --- PASS PCF11 51585 broad.mit.edu 37 11 82893032 82893032 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:82893032G>C uc001ozx.3 + 13 4649 c.4304G>C c.(4303-4305)GGA>GCA p.G1435A NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 1435 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 GTACCTGCTGGACCAGCTGGA 0.428 10 30 --- --- --- --- PASS DLG2 1740 broad.mit.edu 37 11 83173090 83173090 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:83173090C>T uc001paj.2 - 22 2764 c.2461G>A c.(2461-2463)GAT>AAT p.D821N DLG2_uc001pai.2_Missense_Mutation_p.D700N|DLG2_uc010rsy.1_Missense_Mutation_p.D770N|DLG2_uc010rsz.1_Missense_Mutation_p.D817N|DLG2_uc010rta.1_Missense_Mutation_p.D803N|DLG2_uc001pak.2_Missense_Mutation_p.D926N|DLG2_uc010rtb.1_Missense_Mutation_p.D788N|DLG2_uc010rsw.1_Missense_Mutation_p.D285N|DLG2_uc010rsx.1_Missense_Mutation_p.D298N NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 821 Guanylate kinase-like. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) ATTGCTCGATCATAGGTTTTC 0.363 34 108 --- --- --- --- PASS MAML2 84441 broad.mit.edu 37 11 95712854 95712854 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:95712854C>A uc001pfw.1 - 5 4014 c.2729G>T c.(2728-2730)CGG>CTG p.R910L NM_032427 NP_115803 Q8IZL2 MAML2_HUMAN mastermind-like 2 910 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC1/MAML2(516)|CRTC3/MAML2(26) salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1) 546 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) GGTAGGTGGCCGTGGCATCAT 0.403 T MECT1|CRTC3 salivary gland mucoepidermoid 59 103 --- --- --- --- PASS KIAA1377 57562 broad.mit.edu 37 11 101834490 101834490 + Silent SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:101834490C>T uc001pgm.2 + 6 2994 c.2724C>T c.(2722-2724)ACC>ACT p.T908T KIAA1377_uc001pgn.2_Silent_p.T864T|KIAA1377_uc010run.1_Silent_p.T709T|KIAA1377_uc009yxa.1_Silent_p.T709T NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 908 protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) TATATTGCACCCAAAGAAGTC 0.418 75 143 --- --- --- --- PASS KBTBD3 143879 broad.mit.edu 37 11 105924568 105924568 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:105924568C>A uc001pja.2 - 4 1488 c.848G>T c.(847-849)GGA>GTA p.G283V KBTBD3_uc001pjb.2_Missense_Mutation_p.G283V|KBTBD3_uc009yxm.2_Missense_Mutation_p.G204V NM_198439 NP_940841 Q8NAB2 KBTB3_HUMAN BTB and kelch domain containing 3 279 ovary(1)|central_nervous_system(1) 2 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) AGGGAAGAGTCCACCAGAACC 0.368 38 69 --- --- --- --- PASS DRD2 1813 broad.mit.edu 37 11 113283468 113283468 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:113283468G>T uc001pnz.2 - 6 1269 c.948C>A c.(946-948)CAC>CAA p.H316Q DRD2_uc010rwv.1_Missense_Mutation_p.H315Q|DRD2_uc001poa.3_Missense_Mutation_p.H316Q|DRD2_uc001pob.3_Missense_Mutation_p.H287Q NM_000795 NP_000786 P14416 DRD2_HUMAN dopamine receptor D2 isoform long 316 Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding pancreas(1)|skin(1) 2 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) CGGGAGTGCTGTGGAGACCAT 0.617 15 62 --- --- --- --- PASS RBM7 10179 broad.mit.edu 37 11 114271399 114271399 + Silent SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:114271399G>T uc001pov.2 + 1 16 c.6G>T c.(4-6)GGG>GGT p.G2G C11orf71_uc001pot.1_5'Flank|C11orf71_uc001pou.3_5'Flank|RBM7_uc001pow.2_Silent_p.G2G|RBM7_uc001pox.2_5'UTR NM_016090 NP_057174 Q9Y580 RBM7_HUMAN RNA binding motif protein 7 2 meiosis nucleotide binding|protein binding|RNA binding ovary(2) 2 all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104) BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348) CTGAGATGGGGGCGGCGGCGG 0.637 12 51 --- --- --- --- PASS TMPRSS13 84000 broad.mit.edu 37 11 117784529 117784529 + Missense_Mutation SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:117784529A>G uc001prs.1 - 5 865 c.772T>C c.(772-774)TAC>CAC p.Y258H TMPRSS13_uc009yzr.1_5'UTR|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Missense_Mutation_p.Y258H NM_001077263 NP_001070731 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 253 Extracellular (Potential).|SRCR. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity pancreas(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) TTCTCTGAGTAGGAGTCATTC 0.547 47 92 --- --- --- --- PASS SCN3B 55800 broad.mit.edu 37 11 123516382 123516382 + Silent SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:123516382G>A uc001pza.1 - 3 539 c.132C>T c.(130-132)CGC>CGT p.R44R SCN3B_uc001pzb.1_Silent_p.R44R NM_001040151 NP_001035241 Q9NY72 SCN3B_HUMAN voltage-gated sodium channel beta-3 subunit 44 Ig-like C2-type.|Extracellular (Potential). axon guidance integral to membrane|plasma membrane voltage-gated sodium channel activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227) AGGAGATGCAGCGCAGCTTCA 0.582 75 114 --- --- --- --- PASS OR10G8 219869 broad.mit.edu 37 11 123900798 123900798 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:123900798G>T uc001pzp.1 + 1 469 c.469G>T c.(469-471)GTC>TTC p.V157F NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 157 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 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;0.0521) GCACTCTGCTGTCCAGGCCAT 0.557 94 155 --- --- --- --- PASS OR8D2 283160 broad.mit.edu 37 11 124189919 124189919 + Missense_Mutation SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:124189919C>G uc010sah.1 - 1 175 c.175G>C c.(175-177)GTG>CTG p.V59L NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, 59 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|pancreas(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) AAATAATACACTGGAGGGTAA 0.433 30 78 --- --- --- --- PASS OR8A1 390275 broad.mit.edu 37 11 124440378 124440378 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:124440378C>A uc010san.1 + 1 414 c.414C>A c.(412-414)GAC>GAA p.D138E NM_001005194 NP_001005194 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, 138 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) TGGCCTACGACCGCTATGTTG 0.488 22 60 --- --- --- --- PASS ROBO3 64221 broad.mit.edu 37 11 124748513 124748513 + Silent SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:124748513T>C uc001qbc.2 + 23 3546 c.3354T>C c.(3352-3354)CCT>CCC p.P1118P ROBO3_uc001qbd.2_Silent_p.P43P|ROBO3_uc010sar.1_Silent_p.P167P|ROBO3_uc001qbe.2_Silent_p.P43P|ROBO3_uc001qbf.1_Silent_p.P2P NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 1118 Cytoplasmic (Potential). axon midline choice point recognition integral to membrane receptor activity breast(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) CGCCAATGCCTGAGAGAAGTC 0.607 11 20 --- --- --- --- PASS ETS1 2113 broad.mit.edu 37 11 128426297 128426297 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr11:128426297G>C uc001qej.2 - 3 188 c.103C>G c.(103-105)CGA>GGA p.R35G NM_001143820 NP_001137292 P14921 ETS1_HUMAN v-ets erythroblastosis virus E26 oncogene Error:Variant_position_missing_in_P14921_after_alignment cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding lung(4)|central_nervous_system(1)|pleura(1) 6 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) CAGTTCATTCGAGGATCTTCA 0.413 24 26 --- --- --- --- PASS SLC6A13 6540 broad.mit.edu 37 12 330114 330114 + Silent SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:330114C>T uc001qic.1 - 15 1862 c.1809G>A c.(1807-1809)TAG>TAA p.*603* SLC6A13_uc009zdj.1_Silent_p.*593*|SLC6A13_uc010sdl.1_Silent_p.*511* NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter 603 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) GGCCTGCCCCCTAGCAGTGAG 0.672 10 39 --- --- --- --- PASS LRTM2 654429 broad.mit.edu 37 12 1943621 1943621 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:1943621G>T uc001qjt.2 + 5 1653 c.847G>T c.(847-849)GCT>TCT p.A283S CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.A283S|LRTM2_uc010sdx.1_Missense_Mutation_p.A283S|LRTM2_uc001qjv.2_Missense_Mutation_p.A45S NM_001039029 NP_001034118 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 283 Extracellular (Potential). integral to membrane large_intestine(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) CAAGCCCGGGGCTGAGCCGGA 0.672 7 37 --- --- --- --- PASS DCP1B 196513 broad.mit.edu 37 12 2058434 2058434 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:2058434C>A uc001qjx.1 - 8 1671 c.1591G>T c.(1591-1593)GCA>TCA p.A531S DCP1B_uc010sdy.1_Missense_Mutation_p.A429S NM_152640 NP_689853 Q8IZD4 DCP1B_HUMAN decapping enzyme Dcp1b 531 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(31;0.00193) GTGGGTTGTGCGAACACCATG 0.617 22 36 --- --- --- --- PASS AKAP3 10566 broad.mit.edu 37 12 4736573 4736573 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:4736573C>T uc001qnb.3 - 4 1724 c.1495G>A c.(1495-1497)GAT>AAT p.D499N NM_006422 NP_006413 O75969 AKAP3_HUMAN A-kinase anchor protein 3 499 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding skin(3)|large_intestine(1)|ovary(1)|kidney(1) 6 TTGCCAATATCTTCAGGGTAC 0.473 20 18 --- --- --- --- PASS KCNA6 3742 broad.mit.edu 37 12 4920559 4920559 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:4920559C>T uc001qng.2 + 1 2218 c.1352C>T c.(1351-1353)GCC>GTC p.A451V NM_002235 NP_002226 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related 451 Helical; Name=Segment S6; (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity skin(2)|ovary(1) 3 CTCACCATTGCCCTGCCTGTG 0.587 HNSCC(72;0.22) 12 70 --- --- --- --- PASS ATN1 1822 broad.mit.edu 37 12 7046110 7046110 + Silent SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:7046110A>G uc001qrw.1 + 5 1917 c.1680A>G c.(1678-1680)CAA>CAG p.Q560Q ATN1_uc001qrx.1_Silent_p.Q560Q NM_001007026 NP_001007027 P54259 ATN1_HUMAN atrophin-1 560 Involved in binding BAIAP2. cell death|central nervous system development cytoplasm|nucleus protein domain specific binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 CCTACAGCCAAGCAGGCCCCA 0.627 21 103 --- --- --- --- PASS CLEC4E 26253 broad.mit.edu 37 12 8689780 8689780 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:8689780C>A uc001quo.1 - 4 468 c.303G>T c.(301-303)TGG>TGT p.W101C NM_014358 NP_055173 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 101 C-type lectin.|Extracellular (Potential). integral to membrane sugar binding central_nervous_system(1) 1 Lung SC(5;0.184) AACTTAACGCCCAGGAAATGG 0.458 34 52 --- --- --- --- PASS ATF7IP 55729 broad.mit.edu 37 12 14628839 14628839 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:14628839G>A uc001rbw.2 + 11 3036 c.2878G>A c.(2878-2880)GGC>AGC p.G960S ATF7IP_uc001rbu.2_Missense_Mutation_p.G960S|ATF7IP_uc001rbv.1_Missense_Mutation_p.G959S|ATF7IP_uc001rbx.2_Missense_Mutation_p.G959S|ATF7IP_uc001rby.3_Missense_Mutation_p.G960S|ATF7IP_uc001rca.2_Missense_Mutation_p.G960S NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 960 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 AAAAGCCACTGGCAGTGATTC 0.358 18 34 --- --- --- --- PASS DERA 51071 broad.mit.edu 37 12 16111227 16111227 + Missense_Mutation SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:16111227A>G uc001rde.2 + 3 367 c.235A>G c.(235-237)ATC>GTC p.I79V DERA_uc010shx.1_5'UTR NM_015954 NP_057038 Q9Y315 DEOC_HUMAN deoxyribose-phosphate aldolase-like 79 deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process cytoplasm deoxyribose-phosphate aldolase activity|protein binding 0 Hepatocellular(102;0.121) CAAATACCCAATCCGGGAAGA 0.353 5 21 --- --- --- --- PASS LRRK2 120892 broad.mit.edu 37 12 40703009 40703009 + Missense_Mutation SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:40703009A>G uc001rmg.3 + 30 4412 c.4291A>G c.(4291-4293)ATG>GTG p.M1431V LRRK2_uc009zjw.2_Missense_Mutation_p.M269V|LRRK2_uc001rmi.2_Missense_Mutation_p.M264V NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1431 Roc. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) AGTTGATGCCATGAAGCCTTG 0.338 29 64 --- --- --- --- PASS ADAMTS20 80070 broad.mit.edu 37 12 43793012 43793012 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:43793012T>C uc010skx.1 - 29 4309 c.4309A>G c.(4309-4311)AGA>GGA p.R1437G NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1437 TSP type-1 11. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CGGTACTTTCTACCTTTACCA 0.343 4 19 --- --- --- --- PASS ADAMTS20 80070 broad.mit.edu 37 12 43826171 43826171 + Missense_Mutation SNP C A A rs137911452 TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:43826171C>A uc010skx.1 - 21 3032 c.3032G>T c.(3031-3033)CGA>CTA p.R1011L ADAMTS20_uc001rno.1_Missense_Mutation_p.R165L|ADAMTS20_uc001rnp.1_Missense_Mutation_p.R165L NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1011 TSP type-1 4. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TCTCGTCACTCGGGACAGTTC 0.438 29 60 --- --- --- --- PASS ADAMTS20 80070 broad.mit.edu 37 12 43847811 43847811 + Silent SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:43847811A>G uc010skx.1 - 12 1659 c.1659T>C c.(1657-1659)CGT>CGC p.R553R NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 553 Disintegrin. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CATTTACAGGACGTGTTTCCG 0.423 18 32 --- --- --- --- PASS COL2A1 1280 broad.mit.edu 37 12 48378344 48378344 + Silent SNP A T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:48378344A>T uc001rqu.2 - 28 2053 c.1872T>A c.(1870-1872)GGT>GGA p.G624G COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.G555G NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 624 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GACCAGGAGCACCAGGCAGTC 0.632 11 58 --- --- --- --- PASS C12orf10 60314 broad.mit.edu 37 12 53700773 53700773 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:53700773G>T uc001scp.3 + 7 1023 c.971G>T c.(970-972)CGG>CTG p.R324L C12orf10_uc009zmx.2_Missense_Mutation_p.R273L|C12orf10_uc001scq.3_Missense_Mutation_p.R209L NM_021640 NP_067653 Q86UA3 Q86UA3_HUMAN MYG1 protein precursor 324 ovary(2) 2 GAGCCATGGCGGGGTCTTCGG 0.622 88 170 --- --- --- --- PASS NCKAP1L 3071 broad.mit.edu 37 12 54911595 54911595 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:54911595T>C uc001sgc.3 + 13 1290 c.1211T>C c.(1210-1212)ATT>ACT p.I404T NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.I354T NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 404 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 TATAGGAGCATTGCAGAGCTA 0.403 54 93 --- --- --- --- PASS TMEM5 10329 broad.mit.edu 37 12 64202735 64202735 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:64202735G>C uc001srq.1 + 6 1299 c.1195G>C c.(1195-1197)GAG>CAG p.E399Q TMEM5_uc001srr.1_Missense_Mutation_p.E296Q|TMEM5_uc001srs.1_Missense_Mutation_p.E139Q NM_014254 NP_055069 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 399 Extracellular (Potential). integral to plasma membrane 0 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) TTTAGAAAAAGAGAAAACTAT 0.358 29 48 --- --- --- --- PASS PTPRB 5787 broad.mit.edu 37 12 70990077 70990077 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:70990077C>T uc001swb.3 - 3 386 c.356G>A c.(355-357)AGT>AAT p.S119N PTPRB_uc010sto.1_Missense_Mutation_p.S119N|PTPRB_uc010stp.1_Missense_Mutation_p.S119N|PTPRB_uc001swc.3_Missense_Mutation_p.S337N|PTPRB_uc001swa.3_Missense_Mutation_p.S337N|PTPRB_uc001swd.3_Missense_Mutation_p.S336N|PTPRB_uc009zrr.1_Missense_Mutation_p.S216N|PTPRB_uc001swe.2_Missense_Mutation_p.S337N NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 119 Fibronectin type-III 2.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CTTCTCTTTACTGACTCCAAA 0.358 14 28 --- --- --- --- PASS TBC1D15 64786 broad.mit.edu 37 12 72287057 72287057 + Missense_Mutation SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:72287057C>G uc001swu.2 + 6 685 c.676C>G c.(676-678)CAG>GAG p.Q226E TBC1D15_uc009zrv.2_Missense_Mutation_p.Q105E|TBC1D15_uc010stt.1_Missense_Mutation_p.Q212E|TBC1D15_uc001swv.2_Missense_Mutation_p.Q226E|TBC1D15_uc001sww.2_5'UTR NM_022771 NP_073608 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 isoform 1 204 protein binding|Rab GTPase activator activity 0 GAGTCTTTCACAGTCTTTTGA 0.303 17 68 --- --- --- --- PASS GLIPR1L2 144321 broad.mit.edu 37 12 75804329 75804329 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:75804329G>T uc001sxr.1 + 2 358 c.350G>T c.(349-351)GGT>GTT p.G117V GLIPR1L2_uc001sxp.1_Missense_Mutation_p.G117V|GLIPR1L2_uc001sxq.1_Missense_Mutation_p.G10V NM_152436 NP_689649 Q4G1C9 GRPL2_HUMAN GLI pathogenesis-related 1 like 2 117 integral to membrane ovary(1) 1 TATGGTATTGGTGAAAATATG 0.348 52 95 --- --- --- --- PASS CCDC41 51134 broad.mit.edu 37 12 94769671 94769671 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:94769671C>A uc001tdd.2 - 8 1510 c.924G>T c.(922-924)TTG>TTT p.L308F CCDC41_uc001tde.2_Missense_Mutation_p.L308F|CCDC41_uc009zsw.1_RNA|CCDC41_uc001tdf.2_Missense_Mutation_p.L308F NM_016122 NP_057206 Q9Y592 CCD41_HUMAN NY-REN-58 antigen 300 Potential. 0 CTTTACTGGACAATGTATTTA 0.249 14 31 --- --- --- --- PASS DEPDC4 120863 broad.mit.edu 37 12 100660851 100660851 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:100660851C>A uc001thi.2 - 1 7 c.4G>T c.(4-6)GTG>TTG p.V2L SCYL2_uc009ztw.1_5'Flank|SCYL2_uc001thm.1_5'Flank|SCYL2_uc001thn.2_5'Flank|DEPDC4_uc001thh.1_RNA|DEPDC4_uc001thj.1_Missense_Mutation_p.V2L|DEPDC4_uc009ztv.1_Missense_Mutation_p.V2L|DEPDC4_uc001thk.1_5'UTR|DEPDC4_uc001thl.1_RNA NM_152317 NP_689530 Q8N2C3 DEPD4_HUMAN DEP domain containing 4 2 intracellular signal transduction 0 TCCCCTGGCACCATAGCCCCG 0.652 15 58 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104077060 104077060 + Silent SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:104077060C>A uc001tjw.2 + 26 3069 c.2883C>A c.(2881-2883)ACC>ACA p.T961T NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 961 Extracellular (Potential).|EGF-like 10. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 TGGAACAAACCGGGAAATGTC 0.333 28 75 --- --- --- --- PASS ACACB 32 broad.mit.edu 37 12 109644571 109644571 + Silent SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:109644571G>A uc001tob.2 + 20 3089 c.2970G>A c.(2968-2970)GAG>GAA p.E990E ACACB_uc001toc.2_Silent_p.E990E NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 990 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) TCCTCGGAGAGAAACTGCACC 0.527 16 241 --- --- --- --- PASS ACAD10 80724 broad.mit.edu 37 12 112182553 112182553 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:112182553G>C uc001tsq.2 + 13 2021 c.1821G>C c.(1819-1821)GAG>GAC p.E607D ACAD10_uc001tsp.2_Missense_Mutation_p.E607D|ACAD10_uc009zvx.2_Missense_Mutation_p.E638D|ACAD10_uc001tss.1_RNA NM_025247 NP_079523 Q6JQN1 ACD10_HUMAN acyl-Coenzyme A dehydrogenase family, member 10 607 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups ovary(2) 2 TTTTCAAAGAGATGCCCTTCA 0.537 33 69 --- --- --- --- PASS TAOK3 51347 broad.mit.edu 37 12 118639252 118639252 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:118639252C>A uc001twx.2 - 12 1131 c.836G>T c.(835-837)CGA>CTA p.R279L TAOK3_uc001tww.2_Missense_Mutation_p.R109L|TAOK3_uc001twy.3_Missense_Mutation_p.R279L NM_016281 NP_057365 Q9H2K8 TAOK3_HUMAN TAO kinase 3 279 MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGGCCGGTCTCGTCGAACAAA 0.393 25 45 --- --- --- --- PASS ANAPC5 51433 broad.mit.edu 37 12 121789999 121789999 + Nonsense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:121789999C>A uc001uag.2 - 1 267 c.145G>T c.(145-147)GAG>TAG p.E49* ANAPC5_uc001uah.2_Intron NM_016237 NP_057321 Q9UJX4 APC5_HUMAN anaphase-promoting complex subunit 5 isoform a 49 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity skin(3)|breast(2)|kidney(1) 6 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ACGGCGCCCTCGCCTGTGCGG 0.617 18 32 --- --- --- --- PASS KDM2B 84678 broad.mit.edu 37 12 121958890 121958890 + Silent SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:121958890G>A uc001uat.2 - 9 1049 c.945C>T c.(943-945)GCC>GCT p.A315A KDM2B_uc001uas.2_Silent_p.A284A|KDM2B_uc001uau.2_Silent_p.A198A|KDM2B_uc001uav.3_Intron NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN F-box and leucine-rich repeat protein 10 isoform 315 JmjC. embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding ovary(1)|skin(1) 2 GGGTGTAGACGGCATGGATCC 0.617 12 38 --- --- --- --- PASS NCOR2 9612 broad.mit.edu 37 12 124812033 124812033 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:124812033T>C uc010tay.1 - 47 7291 c.7135A>G c.(7135-7137)AAT>GAT p.N2379D NCOR2_uc010taz.1_Intron|NCOR2_uc010tax.1_Intron NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 1 2380 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GCACTGGCATTCAGAGGGTTA 0.602 30 62 --- --- --- --- PASS EP400 57634 broad.mit.edu 37 12 132549312 132549312 + Nonsense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr12:132549312C>T uc001ujn.2 + 47 8469 c.8434C>T c.(8434-8436)CAA>TAA p.Q2812* EP400_uc001ujl.2_Nonsense_Mutation_p.Q2811*|EP400_uc001ujm.2_Nonsense_Mutation_p.Q2731*|EP400_uc001ujp.2_Nonsense_Mutation_p.Q29* NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2848 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) AGCCCAAGTGCAAGTGCAGAC 0.677 19 34 --- --- --- --- PASS MTUS2 23281 broad.mit.edu 37 13 29608252 29608252 + Silent SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr13:29608252C>A uc001usl.3 + 2 2524 c.2466C>A c.(2464-2466)TCC>TCA p.S822S NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 812 Sufficient for interaction with KIF2C.|Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 TCTACAGTTCCGATCCTTCAG 0.463 12 24 --- --- --- --- PASS BRCA2 675 broad.mit.edu 37 13 32920973 32920973 + Missense_Mutation SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr13:32920973A>G uc001uub.1 + 13 7174 c.6947A>G c.(6946-6948)AAA>AGA p.K2316R NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2316 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GGCACAATAAAAGATCGAAGA 0.269 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 10 51 --- --- --- --- PASS BRCA2 675 broad.mit.edu 37 13 32944672 32944672 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr13:32944672T>C uc001uub.1 + 19 8692 c.8465T>C c.(8464-8466)ATT>ACT p.I2822T NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2822 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GATGTAATTATTCAAAGAGCA 0.303 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 46 67 --- --- --- --- PASS ENOX1 55068 broad.mit.edu 37 13 43934079 43934079 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr13:43934079C>T uc001uza.3 - 7 797 c.497G>A c.(496-498)GGT>GAT p.G166D ENOX1_uc001uzb.3_Missense_Mutation_p.G166D|ENOX1_uc001uzc.3_Missense_Mutation_p.G166D|ENOX1_uc010tfm.1_Translation_Start_Site NM_001127615 NP_001121087 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 166 RRM. electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity pancreas(1)|skin(1) 2 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) TGTAATATCACCGCACTGTTC 0.408 17 86 --- --- --- --- PASS KLHL1 57626 broad.mit.edu 37 13 70413282 70413282 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr13:70413282G>T uc001vip.2 - 6 2034 c.1240C>A c.(1240-1242)CTA>ATA p.L414I KLHL1_uc010thm.1_Missense_Mutation_p.L353I NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 414 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TGATTTTCTAGGTCAGCCAAT 0.308 40 75 --- --- --- --- PASS KLHL1 57626 broad.mit.edu 37 13 70413283 70413283 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr13:70413283G>T uc001vip.2 - 6 2033 c.1239C>A c.(1237-1239)GAC>GAA p.D413E KLHL1_uc010thm.1_Missense_Mutation_p.D352E NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 413 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GATTTTCTAGGTCAGCCAATA 0.308 42 75 --- --- --- --- PASS KLHL1 57626 broad.mit.edu 37 13 70514187 70514187 + Silent SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr13:70514187G>T uc001vip.2 - 4 1793 c.999C>A c.(997-999)GCC>GCA p.A333A KLHL1_uc010thm.1_Silent_p.A272A NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 333 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TGTAGCTGTGGGCCACCTTCA 0.403 6 31 --- --- --- --- PASS CLN5 1203 broad.mit.edu 37 13 77570191 77570191 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr13:77570191G>T uc001vkc.2 + 3 669 c.641G>T c.(640-642)TGC>TTC p.C214F NM_006493 NP_006484 O75503 CLN5_HUMAN ceroid-lipofuscinosis, neuronal 5 165 brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.205) GBM - Glioblastoma multiforme(99;0.0503) GGCGCTGCCTGCTTTTTTGAG 0.403 24 167 --- --- --- --- PASS SCEL 8796 broad.mit.edu 37 13 78173468 78173468 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr13:78173468C>A uc001vki.2 + 14 972 c.802C>A c.(802-804)CAA>AAA p.Q268K SCEL_uc001vkj.2_Missense_Mutation_p.Q248K|SCEL_uc010thx.1_Missense_Mutation_p.Q246K NM_144777 NP_659001 O95171 SCEL_HUMAN sciellin isoform 1 268 2.|16 X approximate tandem repeats. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding ovary(4)|breast(1) 5 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) TTAAAGGAATCAAGGTCTTGA 0.343 19 33 --- --- --- --- PASS SLAIN1 122060 broad.mit.edu 37 13 78334967 78334967 + Silent SNP A T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr13:78334967A>T uc010thy.1 + 6 970 c.927A>T c.(925-927)CCA>CCT p.P309P SLAIN1_uc001vkk.1_Silent_p.P232P|SLAIN1_uc001vkl.1_Silent_p.P188P|SLAIN1_uc010thz.1_Silent_p.P187P|SLAIN1_uc010aex.1_Silent_p.P74P|SLAIN1_uc010aey.1_Silent_p.P74P|SLAIN1_uc001vkm.2_Silent_p.P188P NM_144595 NP_653196 Q8ND83 SLAI1_HUMAN SLAIN motif family, member 1 B 451 ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0853) TTCTAGTTCCATCACCGGGAC 0.473 64 80 --- --- --- --- PASS POU4F1 5457 broad.mit.edu 37 13 79176554 79176554 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr13:79176554T>C uc001vkv.2 - 2 490 c.256A>G c.(256-258)AAC>GAC p.N86D uc001vku.1_Intron NM_006237 NP_006228 Q01851 PO4F1_HUMAN POU domain, class 4, transcription factor 1 86 axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) GGCACGCTGTTCATCGTGTGG 0.592 4 8 --- --- --- --- PASS SLITRK5 26050 broad.mit.edu 37 13 88327907 88327907 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr13:88327907G>T uc001vln.2 + 2 483 c.264G>T c.(262-264)TTG>TTT p.L88F SLITRK5_uc010tic.1_Intron NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 88 LRR 1.|Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) ACCTCTTGTTGTCCGGAAACC 0.453 36 221 --- --- --- --- PASS GPC5 2262 broad.mit.edu 37 13 92101100 92101100 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr13:92101100G>C uc010tif.1 + 2 615 c.249G>C c.(247-249)CAG>CAC p.Q83H NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 83 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) CGGCTCGCCAGGATATGCAGC 0.438 7 66 --- --- --- --- PASS TMTC4 84899 broad.mit.edu 37 13 101294518 101294518 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr13:101294518T>C uc001vou.2 - 6 791 c.631A>G c.(631-633)ATC>GTC p.I211V TMTC4_uc001vot.2_Missense_Mutation_p.I230V|TMTC4_uc010tja.1_Missense_Mutation_p.I100V|TMTC4_uc001vow.1_5'UTR NM_001079669 NP_001073137 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat 211 Helical; (Potential). integral to membrane binding ovary(2)|breast(1) 3 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CCCAGAAAGATACTCAGCAGC 0.507 19 148 --- --- --- --- PASS ERCC5 2073 broad.mit.edu 37 13 103519152 103519152 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr13:103519152G>T uc001vpw.2 + 11 2933 c.2490G>T c.(2488-2490)AAG>AAT p.K830N ERCC5_uc001vpu.1_Missense_Mutation_p.K1284N|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.K662N NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein 830 I-domain. negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) ATAAAAACAAGTTTGTAGAAT 0.373 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 14 32 --- --- --- --- PASS COL4A2 1284 broad.mit.edu 37 13 111098175 111098175 + Splice_Site SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr13:111098175G>T uc001vqx.2 + 17 1247 c.958_splice c.e17-1 p.G320_splice NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) CTTTCTTGCAGGGAAGCCGAG 0.393 76 80 --- --- --- --- PASS OR4K2 390431 broad.mit.edu 37 14 20345275 20345275 + Missense_Mutation SNP C A A rs74597543 byFrequency TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr14:20345275C>A uc001vwh.1 + 1 849 c.849C>A c.(847-849)AAC>AAA p.N283K NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, 283 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCACTCTGAACCCAATAATCT 0.368 27 61 --- --- --- --- PASS OR4K1 79544 broad.mit.edu 37 14 20404190 20404190 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr14:20404190G>C uc001vwj.1 + 1 365 c.365G>C c.(364-366)AGA>ACA p.R122T NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) GCATATGACAGATTTATAGCC 0.443 41 88 --- --- --- --- PASS OR4K15 81127 broad.mit.edu 37 14 20444145 20444145 + Nonsense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr14:20444145C>A uc010tkx.1 + 1 468 c.468C>A c.(466-468)TAC>TAA p.Y156* NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, 156 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) CTCTCCACTACATGACAGTCA 0.458 66 117 --- --- --- --- PASS OR4K14 122740 broad.mit.edu 37 14 20482683 20482683 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr14:20482683G>T uc010tky.1 - 1 670 c.670C>A c.(670-672)CTC>ATC p.L224I NM_001004712 NP_001004712 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, 224 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) CTGATAGCGAGGAGGATCACG 0.493 8 34 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 14 22192539 22192539 + RNA SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr14:22192539C>A uc001wbn.2 + 2 c.442C>A Homo sapiens mRNA for T cell receptor alpha variable 3, partial cds, clone: SEB 36. GTGAGCGACTCCGCTTTGTAC 0.488 16 33 --- --- --- --- PASS HEATR5A 25938 broad.mit.edu 37 14 31774224 31774224 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr14:31774224C>T uc001wrf.3 - 26 4324 c.4247G>A c.(4246-4248)GGT>GAT p.G1416D HEATR5A_uc010ami.2_Missense_Mutation_p.G1314D NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 1703 binding ovary(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) TCCTGGGCTACCTGTCAATTT 0.438 36 68 --- --- --- --- PASS RALGAPA1 253959 broad.mit.edu 37 14 36096989 36096989 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr14:36096989G>A uc001wti.2 - 33 5037 c.4646C>T c.(4645-4647)CCT>CTT p.P1549L RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.P1549L|RALGAPA1_uc010tpv.1_Missense_Mutation_p.P1562L|RALGAPA1_uc010tpw.1_Missense_Mutation_p.P1596L NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 1549 Minimal domain that binds to TCF3/E12 (By similarity). activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 AAAGAGTTCAGGAGAAAGTTC 0.308 28 43 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42356450 42356450 + Missense_Mutation SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr14:42356450C>G uc001wvm.2 + 3 1820 c.622C>G c.(622-624)CAG>GAG p.Q208E LRFN5_uc010ana.2_Missense_Mutation_p.Q208E NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 208 Extracellular (Potential).|LRR 7. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) AAATAAATTGCAGAAGCTACC 0.428 HNSCC(30;0.082) 31 66 --- --- --- --- PASS FANCM 57697 broad.mit.edu 37 14 45658089 45658089 + Nonsense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr14:45658089G>T uc001wwd.3 + 20 4963 c.4864G>T c.(4864-4866)GAA>TAA p.E1622* FANCM_uc010anf.2_Nonsense_Mutation_p.E1596*|FANCM_uc001wwe.3_Nonsense_Mutation_p.E1158*|FANCM_uc010ang.2_Nonsense_Mutation_p.E836* NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1622 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 AAGTGAAGAAGAAGTTTGTGT 0.323 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 39 59 --- --- --- --- PASS MGAT2 4247 broad.mit.edu 37 14 50088626 50088626 + Nonsense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr14:50088626G>T uc001wwr.2 + 1 1138 c.640G>T c.(640-642)GAG>TAG p.E214* SDCCAG1_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank NM_002408 NP_002399 Q10469 MGAT2_HUMAN mannosyl (alpha-1,6-)-glycoprotein 214 Lumenal (Potential). oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|Golgi stack|integral to membrane|membrane fraction alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity 0 all_epithelial(31;0.0021)|Breast(41;0.0124) CATCAATGCTGAGTATCCCGA 0.483 61 85 --- --- --- --- PASS NIN 51199 broad.mit.edu 37 14 51259444 51259444 + Missense_Mutation SNP C G G rs143800977 byFrequency TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr14:51259444C>G uc001wym.2 - 5 612 c.421G>C c.(421-423)GGT>CGT p.G141R NIN_uc001wyi.2_Missense_Mutation_p.G141R|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.G141R|NIN_uc010tqp.1_Missense_Mutation_p.G147R|NIN_uc001wyo.2_Missense_Mutation_p.G141R|NIN_uc001wyp.1_Missense_Mutation_p.G103R NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 141 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) CTGCAGTCACCGGCTGGGATG 0.582 T PDGFRB MPD 21 32 --- --- --- --- PASS PYGL 5836 broad.mit.edu 37 14 51398409 51398409 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr14:51398409C>A uc001wyu.2 - 4 637 c.510G>T c.(508-510)AAG>AAT p.K170N PYGL_uc010tqq.1_Missense_Mutation_p.K136N|PYGL_uc001wyv.2_5'UTR|PYGL_uc001wyw.3_Missense_Mutation_p.K170N NM_002863 NP_002854 P06737 PYGL_HUMAN liver glycogen phosphorylase isoform 1 170 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding skin(1) 1 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) CATCTCGGATCTTCTGATTGA 0.423 17 130 --- --- --- --- PASS C14orf37 145407 broad.mit.edu 37 14 58471896 58471896 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr14:58471896C>A uc001xdc.2 - 7 2237 c.2126G>T c.(2125-2127)GGT>GTT p.G709V C14orf37_uc010tro.1_Missense_Mutation_p.G747V|C14orf37_uc001xdd.2_Missense_Mutation_p.G709V NM_001001872 NP_001001872 Q86TY3 CN037_HUMAN hypothetical protein LOC145407 precursor 709 Extracellular (Potential). integral to membrane binding 0 AGACATGTAACCAGCCTGCAT 0.507 32 56 --- --- --- --- PASS RTN1 6252 broad.mit.edu 37 14 60193708 60193708 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr14:60193708G>T uc001xen.1 - 3 1903 c.1694C>A c.(1693-1695)GCG>GAG p.A565E RTN1_uc001xem.1_Missense_Mutation_p.A145E NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 565 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) CTTTGTGGCCGCAGGACTTTG 0.617 4 9 --- --- --- --- PASS SIX1 6495 broad.mit.edu 37 14 61115903 61115903 + Nonsense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr14:61115903G>T uc001xfb.3 - 1 253 c.5C>A c.(4-6)TCG>TAG p.S2* NM_005982 NP_005973 Q15475 SIX1_HUMAN SIX homeobox 1 2 branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development nucleolus|transcription factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 OV - Ovarian serous cystadenocarcinoma(108;0.0201) CGGCAGCATCGACATGGCTGG 0.726 7 34 --- --- --- --- PASS PLEKHH1 57475 broad.mit.edu 37 14 68038551 68038551 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr14:68038551G>T uc001xjl.1 + 10 1659 c.1517G>T c.(1516-1518)CGA>CTA p.R506L PLEKHH1_uc010tsw.1_Missense_Mutation_p.R74L|PLEKHH1_uc001xjm.1_Missense_Mutation_p.R21L|PLEKHH1_uc001xjn.1_Missense_Mutation_p.R21L NM_020715 NP_065766 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H 506 cytoskeleton binding 0 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) GCGAGTTTCCGAATCTCGGTC 0.602 12 39 --- --- --- --- PASS DCAF5 8816 broad.mit.edu 37 14 69529207 69529207 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr14:69529207T>C uc001xkp.2 - 8 1187 c.968A>G c.(967-969)AAC>AGC p.N323S DCAF5_uc001xkq.2_Missense_Mutation_p.N322S NM_003861 NP_003852 Q96JK2 DCAF5_HUMAN WD repeat domain 22 323 CUL4 RING ubiquitin ligase complex ovary(1)|central_nervous_system(1) 2 GAAGGCTCCGTTGACCACCCT 0.418 41 45 --- --- --- --- PASS ADAM20 8748 broad.mit.edu 37 14 70989980 70989980 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr14:70989980C>A uc001xme.2 - 2 1890 c.1645G>T c.(1645-1647)GTG>TTG p.V549L NM_003814 NP_003805 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 preproprotein 499 Cys-rich.|Extracellular (Potential). proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) AAGGCATTCACATTACAGGAG 0.438 41 153 --- --- --- --- PASS C14orf169 79697 broad.mit.edu 37 14 73957825 73957825 + Missense_Mutation SNP A T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr14:73957825A>T uc001xok.1 + 1 182 c.103A>T c.(103-105)AGG>TGG p.R35W HEATR4_uc010tua.1_Intron NM_024644 NP_078920 Q9H6W3 NO66_HUMAN chromosome 14 open reading frame 169 35 negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215) CCTGCCCTTGAGGTCCAGGAA 0.672 21 36 --- --- --- --- PASS CHGA 1113 broad.mit.edu 37 14 93397669 93397669 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr14:93397669G>A uc001ybc.3 + 6 690 c.430G>A c.(430-432)GAA>AAA p.E144K CHGA_uc010aum.2_RNA|CHGA_uc001ybd.3_Intron NM_001275 NP_001266 P10645 CMGA_HUMAN chromogranin A precursor 144 regulation of blood pressure extracellular region|stored secretory granule skin(2) 2 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) GAAAAGTGGTGAAGCCACAGA 0.537 5 25 --- --- --- --- PASS MIR655 724025 broad.mit.edu 37 14 101515907 101515907 + RNA SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr14:101515907G>A hsa-mir-655|MI0003677 + c.21G>A MIR487A_hsa-mir-487a|MI0002471_5'Flank 0 GGATATTTGAGGAGAGGTTAT 0.463 43 73 --- --- --- --- PASS MARK3 4140 broad.mit.edu 37 14 103915265 103915265 + Nonsense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr14:103915265G>T uc001ymz.3 + 4 973 c.307G>T c.(307-309)GAA>TAA p.E103* MARK3_uc001ymx.3_Nonsense_Mutation_p.E103*|MARK3_uc001ymw.3_Nonsense_Mutation_p.E103*|MARK3_uc001yna.3_Nonsense_Mutation_p.E103*|MARK3_uc001ymy.3_Nonsense_Mutation_p.E103*|MARK3_uc010awp.2_Nonsense_Mutation_p.E103* NM_001128918 NP_001122390 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 103 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|stomach(1) 4 Melanoma(154;0.155) Epithelial(46;0.241) GCTCTTCAGAGAAGTAAGAAT 0.254 26 136 --- --- --- --- PASS TMEM179 388021 broad.mit.edu 37 14 105070804 105070804 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr14:105070804G>T uc001yox.1 - 1 294 c.275C>A c.(274-276)ACG>AAG p.T92K NM_207379 NP_997262 Q6ZVK1 T179A_HUMAN transmembrane protein 179 92 Helical; (Potential). integral to membrane 0 all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.129) GAAGAAGAGCGTGCGCCAGGC 0.751 3 5 --- --- --- --- PASS UBE3A 7337 broad.mit.edu 37 15 25616127 25616127 + Silent SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:25616127G>A uc001zaq.2 - 4 1203 c.1203C>T c.(1201-1203)ATC>ATT p.I401I uc001zae.2_Intron|UBE3A_uc001zar.2_Silent_p.I378I|UBE3A_uc001zas.2_Silent_p.I398I|UBE3A_uc001zat.2_Silent_p.I378I NM_000462 NP_000453 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A isoform 2 401 E6-binding. brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) TGGACTCAGGGATGGGCTCTT 0.458 27 60 --- --- --- --- PASS ATP10A 57194 broad.mit.edu 37 15 25924723 25924723 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:25924723C>A uc010ayu.2 - 21 4371 c.4265G>T c.(4264-4266)AGG>ATG p.R1422M NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 1422 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GGGGGTCACCCTGCCGGTGCT 0.632 36 51 --- --- --- --- PASS OCA2 4948 broad.mit.edu 37 15 28196993 28196993 + Missense_Mutation SNP A C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:28196993A>C uc001zbh.3 - 18 1998 c.1888T>G c.(1888-1890)TTG>GTG p.L630V OCA2_uc010ayv.2_Missense_Mutation_p.L606V NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 630 Helical; (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) ACAAATCCCAACACTGTCAGG 0.433 Oculocutaneous_Albinism 10 40 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28389936 28389936 + Missense_Mutation SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:28389936C>G uc001zbj.2 - 72 11129 c.11023G>C c.(11023-11025)GAC>CAC p.D3675H NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3675 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CTGGACCAGTCGGACCACTCT 0.557 20 69 --- --- --- --- PASS MTMR10 54893 broad.mit.edu 37 15 31234047 31234047 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:31234047T>C uc001zfh.1 - 16 2058 c.1960A>G c.(1960-1962)ATA>GTA p.I654V MTMR15_uc001zff.2_3'UTR|MTMR15_uc001zfe.2_3'UTR|MTMR10_uc010ubk.1_Missense_Mutation_p.I68V|MTMR10_uc001zfg.1_Missense_Mutation_p.I235V|MTMR10_uc010azx.1_Missense_Mutation_p.I406V|MTMR10_uc001zfi.1_3'UTR NM_017762 NP_060232 Q9NXD2 MTMRA_HUMAN myotubularin related protein 10 654 Myotubularin phosphatase. phosphatase activity ovary(1) 1 all_lung(180;2.81e-11) all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174) CACAGTTTTATGTGTGTTCCA 0.532 46 98 --- --- --- --- PASS TRPM1 4308 broad.mit.edu 37 15 31294039 31294039 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:31294039C>T uc001zfm.2 - 27 4926 c.4798G>A c.(4798-4800)GAA>AAA p.E1600K TRPM1_uc010azy.2_Missense_Mutation_p.E1507K|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 1600 Cytoplasmic (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CATTCAGTTTCTGTGGAAGCT 0.358 26 75 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34049697 34049697 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:34049697C>A uc001zhi.2 + 60 8675 c.8605C>A c.(8605-8607)CAG>AAG p.Q2869K RYR3_uc010bar.2_Missense_Mutation_p.Q2869K NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2869 Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 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) GCTGGTTGACCAGTACTTCAC 0.468 5 11 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34102748 34102748 + Silent SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:34102748C>T uc001zhi.2 + 71 10165 c.10095C>T c.(10093-10095)TCC>TCT p.S3365S RYR3_uc010bar.2_Silent_p.S3360S NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3365 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 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) TCCAGACCTCCCTCATCGTGG 0.517 19 45 --- --- --- --- PASS VPS18 57617 broad.mit.edu 37 15 41192320 41192320 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:41192320G>T uc001zne.2 + 4 1643 c.1304G>T c.(1303-1305)CGC>CTC p.R435L NM_020857 NP_065908 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 435 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding ovary(2)|large_intestine(1) 3 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) TTCTGCTTTCGCCAGCGTCGC 0.607 75 137 --- --- --- --- PASS LCMT2 9836 broad.mit.edu 37 15 43621185 43621185 + Silent SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:43621185T>A uc001zrg.2 - 1 1707 c.1503A>T c.(1501-1503)CGA>CGT p.R501R LCMT2_uc010udn.1_Silent_p.R80R|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank NM_014793 NP_055608 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 501 tRNA processing methyltransferase activity|protein binding 0 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) CCACCACGCTTCGACCCCCAT 0.512 99 146 --- --- --- --- PASS SPG11 80208 broad.mit.edu 37 15 44876661 44876661 + Missense_Mutation SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:44876661C>G uc001ztx.2 - 30 5248 c.5217G>C c.(5215-5217)AAG>AAC p.K1739N SPG11_uc010bdw.2_Missense_Mutation_p.K28N|SPG11_uc010ueh.1_Missense_Mutation_p.K1739N|SPG11_uc010uei.1_Missense_Mutation_p.K1739N|SPG11_uc001zty.1_Missense_Mutation_p.K468N NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 1739 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TTGAATTTTTCTTAAAATTCT 0.433 5 92 --- --- --- --- PASS DUOXA2 405753 broad.mit.edu 37 15 45409295 45409295 + Silent SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:45409295G>A uc001zuo.2 + 5 841 c.561G>A c.(559-561)GCG>GCA p.A187A DUOX2_uc010bea.2_5'Flank|DUOX2_uc001zun.2_5'Flank|DUOXA2_uc010beb.2_RNA NM_207581 NP_997464 Q1HG44 DOXA2_HUMAN dual oxidase activator 2 187 Helical; (Potential). protein transport endoplasmic reticulum membrane|integral to membrane 0 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659) GCAGGGTGGCGTTCTGCTTCT 0.692 9 39 --- --- --- --- PASS SLC12A1 6557 broad.mit.edu 37 15 48543965 48543965 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:48543965C>A uc001zwn.3 + 15 2156 c.1940C>A c.(1939-1941)CCA>CAA p.P647Q SLC12A1_uc010uew.1_Missense_Mutation_p.P453Q|SLC12A1_uc010bem.2_Missense_Mutation_p.P647Q|SLC12A1_uc001zwq.3_Missense_Mutation_p.P418Q|SLC12A1_uc001zwr.3_Missense_Mutation_p.P374Q NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 647 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) TGTAAGAAGCCAGGTAAGATA 0.313 16 47 --- --- --- --- PASS SHC4 399694 broad.mit.edu 37 15 49254801 49254801 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:49254801T>C uc001zxb.1 - 1 841 c.412A>G c.(412-414)AGT>GGT p.S138G NM_203349 NP_976224 Q6S5L8 SHC4_HUMAN rai-like protein 138 CH2. intracellular signal transduction cell junction|postsynaptic membrane ovary(3)|pancreas(2) 5 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) CCGGACCTACTTAAACTGGTT 0.627 25 39 --- --- --- --- PASS ATP8B4 79895 broad.mit.edu 37 15 50271996 50271996 + Silent SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:50271996C>A uc001zxu.2 - 12 994 c.852G>T c.(850-852)CTG>CTT p.L284L ATP8B4_uc010ber.2_Silent_p.L157L|ATP8B4_uc010ufd.1_Silent_p.L157L|ATP8B4_uc010ufe.1_RNA NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 284 Helical; (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CCAAGCATATCAGAAACCCAA 0.353 41 69 --- --- --- --- PASS HDC 3067 broad.mit.edu 37 15 50549686 50549686 + Missense_Mutation SNP A C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:50549686A>C uc001zxz.2 - 4 483 c.377T>G c.(376-378)ATG>AGG p.M126R HDC_uc010uff.1_Missense_Mutation_p.M126R|HDC_uc010bet.1_Intron|HDC_uc010beu.1_Missense_Mutation_p.M126R NM_002112 NP_002103 P19113 DCHS_HUMAN histidine decarboxylase 126 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) AAGTCCCAGCATTTTTGCCAA 0.582 53 111 --- --- --- --- PASS DMXL2 23312 broad.mit.edu 37 15 51830482 51830482 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:51830482C>A uc002abf.2 - 10 1498 c.1273G>T c.(1273-1275)GAT>TAT p.D425Y DMXL2_uc010ufy.1_Missense_Mutation_p.D425Y|DMXL2_uc010bfa.2_Missense_Mutation_p.D425Y NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 425 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) CTATCTGCATCATCATTTTCA 0.338 62 109 --- --- --- --- PASS DMXL2 23312 broad.mit.edu 37 15 51830483 51830483 + Missense_Mutation SNP A C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:51830483A>C uc002abf.2 - 10 1497 c.1272T>G c.(1270-1272)GAT>GAG p.D424E DMXL2_uc010ufy.1_Missense_Mutation_p.D424E|DMXL2_uc010bfa.2_Missense_Mutation_p.D424E NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 424 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) TATCTGCATCATCATTTTCAT 0.338 61 106 --- --- --- --- PASS RORA 6095 broad.mit.edu 37 15 60919521 60919521 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:60919521G>A uc002agv.2 - 1 209 c.53C>T c.(52-54)CCG>CTG p.P18L RORA_uc002agw.2_Missense_Mutation_p.P18L|RORA_uc002agx.2_Intron NM_134260 NP_599022 P35398 RORA_HUMAN RAR-related orphan receptor A isoform b 18 Modulating. P -> S (in a colorectal cancer sample; somatic mutation). positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding p.P18S(1) large_intestine(1)|ovary(1) 2 GATTGACCACGGCACTCTTGC 0.488 31 186 --- --- --- --- PASS UACA 55075 broad.mit.edu 37 15 70976770 70976770 + Silent SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:70976770T>A uc002asr.2 - 8 722 c.618A>T c.(616-618)CTA>CTT p.L206L UACA_uc010uke.1_Intron|UACA_uc002asq.2_Silent_p.L193L|UACA_uc010bin.1_Silent_p.L192L NM_018003 NP_060473 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and 206 ANK 6. cytoskeleton|extracellular region ovary(2)|pancreas(1)|skin(1) 4 ATTCGCAACCTAGCATGAGGG 0.393 73 148 --- --- --- --- PASS SGK269 79834 broad.mit.edu 37 15 77450849 77450849 + Silent SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:77450849G>A uc002bcm.2 - 4 3635 c.3327C>T c.(3325-3327)AAC>AAT p.N1109N SGK269_uc002bcn.2_Silent_p.N1109N NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 1109 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding 0 STAD - Stomach adenocarcinoma(199;0.124) ACTTACCTAAGTTGCTGTATG 0.398 51 87 --- --- --- --- PASS ACSBG1 23205 broad.mit.edu 37 15 78466839 78466839 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:78466839T>C uc002bdh.2 - 12 1786 c.1730A>G c.(1729-1731)AAT>AGT p.N577S ACSBG1_uc010umw.1_Missense_Mutation_p.N573S|ACSBG1_uc010umx.1_Missense_Mutation_p.N335S NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN lipidosin 577 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity ovary(1) 1 AGGGGGCACATTCTCCCCACC 0.597 24 47 --- --- --- --- PASS ADAMTSL3 57188 broad.mit.edu 37 15 84558881 84558881 + Nonsense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:84558881G>T uc002bjz.3 + 11 1317 c.1093G>T c.(1093-1095)GAA>TAA p.E365* ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.E365*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.E365* NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 365 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) CAATTCTGCTGAATGTGTGGA 0.393 59 121 --- --- --- --- PASS ALPK3 57538 broad.mit.edu 37 15 85360218 85360218 + Silent SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:85360218G>C uc002ble.2 + 1 308 c.141G>C c.(139-141)GCG>GCC p.A47A NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 47 heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCTGGCCAGCGGTTGACCTGG 0.701 12 31 --- --- --- --- PASS PDE8A 5151 broad.mit.edu 37 15 85619149 85619149 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:85619149G>T uc002blh.2 + 4 680 c.491G>T c.(490-492)AGG>ATG p.R164M PDE8A_uc002bli.2_Missense_Mutation_p.R164M|PDE8A_uc010bnc.2_Translation_Start_Site|PDE8A_uc010bnd.2_Translation_Start_Site|PDE8A_uc002blj.2_Translation_Start_Site|PDE8A_uc002blk.2_Translation_Start_Site NM_002605 NP_002596 O60658 PDE8A_HUMAN phosphodiesterase 8A isoform 1 164 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) GTAGTACGCAGGTAAACTTTC 0.328 98 240 --- --- --- --- PASS KIF7 374654 broad.mit.edu 37 15 90176085 90176085 + Missense_Mutation SNP G A A rs141463861 byFrequency TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:90176085G>A uc002bof.2 - 14 2938 c.2861C>T c.(2860-2862)ACG>ATG p.T954M KIF7_uc010upw.1_Missense_Mutation_p.T440M NM_198525 NP_940927 Q2M1P5 KIF7_HUMAN kinesin family member 7 954 Potential. microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding ovary(2)|lung(1) 3 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) CTCCAGCCCCGTCTTCTCCTG 0.652 11 16 --- --- --- --- PASS MSLN 10232 broad.mit.edu 37 16 814992 814992 + Missense_Mutation SNP G T T rs34729817 TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr16:814992G>T uc002cjw.1 + 7 517 c.466G>T c.(466-468)GCT>TCT p.A156S MSLN_uc002cjt.1_Missense_Mutation_p.A156S|MSLN_uc002cju.1_Missense_Mutation_p.A156S|MSLN_uc010brd.1_Missense_Mutation_p.A155S|MSLN_uc002cjv.1_Missense_Mutation_p.A156S|MSLN_uc002cjx.1_Missense_Mutation_p.A156S|MSLN_uc002cjy.1_5'Flank NM_013404 NP_037536 Q13421 MSLN_HUMAN mesothelin isoform 2 preproprotein 156 cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane pancreas(1) 1 Hepatocellular(780;0.00335) CCCGAGGGGGGCTCCCGAGCG 0.692 12 19 --- --- --- --- PASS C1QTNF8 390664 broad.mit.edu 37 16 1144031 1144031 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr16:1144031C>T uc010uuw.1 - 4 503 c.229G>A c.(229-231)GTC>ATC p.V77I NM_207419 NP_997302 P60827 C1QT8_HUMAN C1q and tumor necrosis factor related protein 8 77 Collagen-like. collagen skin(1) 1 Hepatocellular(780;0.00369) CGACCTCGGACGCCGGCCTCA 0.766 9 12 --- --- --- --- PASS ZNF434 54925 broad.mit.edu 37 16 3434703 3434703 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr16:3434703G>C uc002cuz.2 - 5 1156 c.354C>G c.(352-354)ATC>ATG p.I118M ZNF434_uc002cux.3_Missense_Mutation_p.I329M|ZNF434_uc010uwx.1_Missense_Mutation_p.I41M|ZNF434_uc002cuy.3_Missense_Mutation_p.I41M|ZNF434_uc010uwy.1_Missense_Mutation_p.I41M|ZNF434_uc010uwz.1_Missense_Mutation_p.I329M|ZNF434_uc010uxa.1_Missense_Mutation_p.I118M NM_017810 NP_060280 Q9NX65 ZN434_HUMAN zinc finger protein 434 118 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CCTCATAAAAGATACAAGGCT 0.517 98 207 --- --- --- --- PASS CORO7 79585 broad.mit.edu 37 16 4415002 4415002 + Splice_Site SNP A T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr16:4415002A>T uc002cwh.3 - 11 1018 c.898_splice c.e11+1 p.V300_splice CORO7_uc002cwe.2_Splice_Site|CORO7_uc002cwf.2_Splice_Site_p.V300_splice|CORO7_uc002cwg.3_Splice_Site_p.V80_splice|CORO7_uc010uxh.1_Splice_Site_p.V282_splice|CORO7_uc010uxi.1_Splice_Site_p.V215_splice|CORO7_uc002cwi.1_Splice_Site_p.V80_splice|CORO7_uc010uxj.1_Splice_Site|CORO7_uc010btp.1_Splice_Site_p.V80_splice NM_024535 NP_078811 P57737 CORO7_HUMAN coronin 7 cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction 0 AGCAAGGCTTACCTGGGCTCA 0.622 5 10 --- --- --- --- PASS ANKS3 124401 broad.mit.edu 37 16 4752157 4752157 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr16:4752157T>C uc002cxj.1 - 9 1250 c.955A>G c.(955-957)ACC>GCC p.T319A ANKS3_uc010uxr.1_5'Flank|ANKS3_uc002cxh.1_5'Flank|ANKS3_uc002cxi.1_Missense_Mutation_p.T246A|ANKS3_uc002cxk.2_Missense_Mutation_p.T190A|ANKS3_uc002cxl.2_Missense_Mutation_p.T146A|ANKS3_uc010uxs.1_Missense_Mutation_p.T246A|ANKS3_uc002cxm.2_Missense_Mutation_p.T113A NM_133450 NP_597707 Q6ZW76 ANKS3_HUMAN ankyrin repeat and sterile alpha motif domain 319 0 ATGGGGGAGGTGACATCCCGG 0.572 15 26 --- --- --- --- PASS ZP2 7783 broad.mit.edu 37 16 21210929 21210929 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr16:21210929C>A uc002dii.2 - 16 1889 c.1889G>T c.(1888-1890)TGT>TTT p.C630F ZP2_uc010bwn.1_Missense_Mutation_p.C660F NM_003460 NP_003451 Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 preproprotein 630 Extracellular (Potential).|ZP. binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(48;0.0573) GGTCACAGAACACAGTGGGGA 0.448 18 45 --- --- --- --- PASS NFATC2IP 84901 broad.mit.edu 37 16 28970373 28970373 + Silent SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr16:28970373G>T uc002dru.2 + 7 1068 c.1053G>T c.(1051-1053)CGG>CGT p.R351R uc010vct.1_Intron|NFATC2IP_uc002drt.2_Silent_p.R72R|NFATC2IP_uc002drv.2_Silent_p.R70R|NFATC2IP_uc010vdh.1_Silent_p.R59R NM_032815 NP_116204 Q8NCF5 NF2IP_HUMAN nuclear factor of activated T-cells, 351 Ubiquitin-like. cytoplasm|nucleus ovary(1) 1 TCCAGCTCCGGGTGCAGGGAA 0.587 22 96 --- --- --- --- PASS SETD1A 9739 broad.mit.edu 37 16 30990907 30990907 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr16:30990907G>A uc002ead.1 + 14 4486 c.3800G>A c.(3799-3801)GGG>GAG p.G1267E NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 1267 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 GCCCGGCGCGGGCTGCCTGCC 0.706 14 17 --- --- --- --- PASS PRSS36 146547 broad.mit.edu 37 16 31151700 31151700 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr16:31151700C>T uc002ebd.2 - 14 2263 c.2204G>A c.(2203-2205)CGA>CAA p.R735Q PRSS36_uc010vff.1_Missense_Mutation_p.R510Q|PRSS36_uc010vfg.1_Missense_Mutation_p.R730Q|PRSS36_uc010vfh.1_Intron NM_173502 NP_775773 Q5K4E3 POLS2_HUMAN protease, serine, 36 precursor 735 Peptidase S1 3. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity ovary(1) 1 GTCACAGATTCGTTGTGTCAA 0.597 11 90 --- --- --- --- PASS PRSS36 146547 broad.mit.edu 37 16 31154774 31154774 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr16:31154774C>A uc002ebd.2 - 8 1048 c.989G>T c.(988-990)CGG>CTG p.R330L PRSS36_uc010vff.1_Missense_Mutation_p.R105L|PRSS36_uc010vfg.1_Missense_Mutation_p.R330L|PRSS36_uc010vfh.1_Missense_Mutation_p.R330L NM_173502 NP_775773 Q5K4E3 POLS2_HUMAN protease, serine, 36 precursor 330 Peptidase S1 2. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity ovary(1) 1 GGCCCCTGGCCGCGGGGCCTT 0.667 29 76 --- --- --- --- PASS VPS35 55737 broad.mit.edu 37 16 46695755 46695755 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr16:46695755C>A uc002eef.3 - 16 2185 c.2086G>T c.(2086-2088)GTA>TTA p.V696L VPS35_uc002eed.2_3'UTR|VPS35_uc002eee.2_Missense_Mutation_p.V657L NM_018206 NP_060676 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 696 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding 0 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) CACTCCATTACCCTCTTGCCT 0.398 24 124 --- --- --- --- PASS PHKB 5257 broad.mit.edu 37 16 47622893 47622893 + Silent SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr16:47622893A>G uc002eev.3 + 10 1000 c.948A>G c.(946-948)ACA>ACG p.T316T PHKB_uc002eeu.3_Silent_p.T309T NM_000293 NP_000284 Q93100 KPBB_HUMAN phosphorylase kinase, beta isoform a 316 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity ovary(1)|large_intestine(1)|breast(1) 3 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) TTAGCCAGACACTTGATAAAG 0.403 16 61 --- --- --- --- PASS NOD2 64127 broad.mit.edu 37 16 50744941 50744941 + Silent SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr16:50744941T>A uc002egm.1 + 4 1224 c.1119T>A c.(1117-1119)CGT>CGA p.R373R NOD2_uc010cbk.1_Silent_p.R346R|NOD2_uc002egl.1_Silent_p.R151R|NOD2_uc010cbl.1_Silent_p.R151R|NOD2_uc010cbm.1_Silent_p.R151R|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 373 NACHT. R -> C (associated with Crohn disease). activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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 cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) ACCCTGACCGTGTCCTGTTAA 0.542 17 81 --- --- --- --- PASS CHST5 23563 broad.mit.edu 37 16 75563610 75563610 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr16:75563610C>A uc002fei.2 - 3 2068 c.673G>T c.(673-675)GAC>TAC p.D225Y CHST5_uc002fej.1_Missense_Mutation_p.D231Y NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) 225 Lumenal (Potential).|PAPS (By similarity). N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 GCCCGCGGGTCGCGCACCAGG 0.701 14 46 --- --- --- --- PASS MON1B 22879 broad.mit.edu 37 16 77225393 77225393 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr16:77225393G>A uc002fez.2 + 2 341 c.11G>A c.(10-12)GGA>GAA p.G4E MON1B_uc010vnf.1_Missense_Mutation_p.G4E|MON1B_uc010vng.1_Intron|MON1B_uc002ffa.2_5'Flank NM_014940 NP_055755 Q7L1V2 MON1B_HUMAN MON1 homolog B 4 protein binding 0 ATGGAGGTCGGAGGAGACACT 0.512 3 26 --- --- --- --- PASS PKD1L2 114780 broad.mit.edu 37 16 81199487 81199487 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr16:81199487G>A uc002fgh.1 - 19 3175 c.3175C>T c.(3175-3177)CCA>TCA p.P1059S PKD1L2_uc002fgg.1_RNA NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 1059 REJ.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 AGCATGGCTGGAAGGCCCCCT 0.562 12 13 --- --- --- --- PASS FBXO31 79791 broad.mit.edu 37 16 87367544 87367544 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr16:87367544G>A uc002fjw.2 - 8 1389 c.1345C>T c.(1345-1347)CCC>TCC p.P449S FBXO31_uc010vot.1_Missense_Mutation_p.P277S|FBXO31_uc002fjv.2_Missense_Mutation_p.P341S NM_024735 NP_079011 Q5XUX0 FBX31_HUMAN F-box protein 31 449 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0272) ACGCCCACGGGCAGCACGAAC 0.672 10 58 --- --- --- --- PASS GALNS 2588 broad.mit.edu 37 16 88908314 88908314 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr16:88908314C>A uc002fly.3 - 3 399 c.310G>T c.(310-312)GCC>TCC p.A104S GALNS_uc010cid.2_Missense_Mutation_p.A110S|GALNS_uc002flz.3_5'UTR NM_000512 NP_000503 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfate sulfatase 104 lysosome metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity large_intestine(2) 2 BRCA - Breast invasive adenocarcinoma(80;0.0496) Hyaluronidase(DB00070) CCGTTTCTGGCATGGGCGTTG 0.632 5 25 --- --- --- --- PASS SPIRE2 84501 broad.mit.edu 37 16 89927144 89927144 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr16:89927144G>A uc002foz.1 + 10 1568 c.1516G>A c.(1516-1518)GGC>AGC p.G506S SPIRE2_uc010ciw.1_Missense_Mutation_p.G506S|SPIRE2_uc002fpa.1_Missense_Mutation_p.G458S|SPIRE2_uc010cix.1_Missense_Mutation_p.G373S NM_032451 NP_115827 Q8WWL2 SPIR2_HUMAN spire homolog 2 506 transport cytoplasm|cytoskeleton actin binding central_nervous_system(1) 1 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) CAGCAACCGGGGCTCCTCGGG 0.677 OREG0024056 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 9 --- --- --- --- PASS KIAA0664 23277 broad.mit.edu 37 17 2601427 2601427 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:2601427T>C uc002fuy.1 - 10 1696 c.1610A>G c.(1609-1611)AAC>AGC p.N537S KIAA0664_uc002fux.1_Missense_Mutation_p.N469S NM_015229 NP_056044 O75153 K0664_HUMAN hypothetical protein LOC23277 537 binding breast(2) 2 GTCACGGTCGTTGAGCACCTG 0.642 4 6 --- --- --- --- PASS P2RX1 5023 broad.mit.edu 37 17 3807227 3807227 + Silent SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:3807227G>T uc002fww.2 - 5 960 c.519C>A c.(517-519)ATC>ATA p.I173I NM_002558 NP_002549 P51575 P2RX1_HUMAN purinergic receptor P2X1 173 Extracellular (Potential). platelet activation integral to plasma membrane calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity ovary(1)|skin(1) 2 LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173) GTTACCGCGGGATGTCGTCAT 0.572 10 70 --- --- --- --- PASS PITPNM3 83394 broad.mit.edu 37 17 6374626 6374626 + Silent SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:6374626C>A uc002gdd.3 - 12 1630 c.1479G>T c.(1477-1479)CGG>CGT p.R493R PITPNM3_uc010cln.2_Silent_p.R457R|PITPNM3_uc010clm.2_5'UTR|PITPNM3_uc002gdc.3_Silent_p.R84R NM_031220 NP_112497 Q9BZ71 PITM3_HUMAN PITPNM family member 3 isoform 1 493 DDHD. phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding ovary(2)|central_nervous_system(2) 4 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) GCGGGCTGTCCCGGGAGCTGC 0.662 8 12 --- --- --- --- PASS TEKT1 83659 broad.mit.edu 37 17 6733599 6733599 + Missense_Mutation SNP G C C rs143066578 TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:6733599G>C uc002gdt.2 - 2 207 c.97C>G c.(97-99)CGA>GGA p.R33G TEKT1_uc010vth.1_5'UTR NM_053285 NP_444515 Q969V4 TEKT1_HUMAN tektin 1 33 Potential. microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule p.R33*(1) ovary(1)|skin(1) 2 Myeloproliferative disorder(207;0.0255) CGTTCTGATCGGGACCTTTGA 0.468 22 55 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577536 7577536 + Missense_Mutation SNP T A A rs67185453 TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:7577536T>A uc002gim.2 - 7 939 c.745A>T c.(745-747)AGG>TGG p.R249W TP53_uc002gig.1_Missense_Mutation_p.R249W|TP53_uc002gih.2_Missense_Mutation_p.R249W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117W|TP53_uc010cng.1_Missense_Mutation_p.R117W|TP53_uc002gii.1_Missense_Mutation_p.R117W|TP53_uc010cnh.1_Missense_Mutation_p.R249W|TP53_uc010cni.1_Missense_Mutation_p.R249W|TP53_uc002gij.2_Missense_Mutation_p.R249W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R156W|TP53_uc002gio.2_Missense_Mutation_p.R117W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 249 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R249S(303)|p.R249M(25)|p.R249G(24)|p.R249W(23)|p.R249T(16)|p.R249K(14)|p.0?(7)|p.R249R(6)|p.R249fs*96(6)|p.M246_P250delMNRRP(2)|p.R249fs*14(2)|p.N247_P250delNRRP(1)|p.R249fs*15(1)|p.R249_I251delRPI(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.N247_R248delNR(1)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.R249_T256delRPILTIIT(1)|p.R249_P250>SS(1)|p.G245fs*14(1)|p.R249fs*19(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGGATGGGCCTCCGGTTCATG 0.567 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 15 64 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578457 7578457 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:7578457C>A uc002gim.2 - 5 667 c.473G>T c.(472-474)CGC>CTC p.R158L TP53_uc002gig.1_Missense_Mutation_p.R158L|TP53_uc002gih.2_Missense_Mutation_p.R158L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26L|TP53_uc010cng.1_Missense_Mutation_p.R26L|TP53_uc002gii.1_Missense_Mutation_p.R26L|TP53_uc010cnh.1_Missense_Mutation_p.R158L|TP53_uc010cni.1_Missense_Mutation_p.R158L|TP53_uc002gij.2_Missense_Mutation_p.R158L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65L|TP53_uc002gio.2_Missense_Mutation_p.R26L|TP53_uc010vug.1_Missense_Mutation_p.R119L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 158 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCCATGGCGCGGACGCGGGT 0.627 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 27 49 --- --- --- --- PASS PFAS 5198 broad.mit.edu 37 17 8161517 8161517 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:8161517G>T uc002gkr.2 + 11 1477 c.1336G>T c.(1336-1338)GGC>TGC p.G446C PFAS_uc010vuv.1_Missense_Mutation_p.G22C NM_012393 NP_036525 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 446 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding ovary(2)|central_nervous_system(2)|pancreas(1) 5 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCCAGAGCCAGGTAAGAGCCT 0.562 46 59 --- --- --- --- PASS NDEL1 81565 broad.mit.edu 37 17 8351896 8351896 + Nonsense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:8351896G>T uc002glj.2 + 5 615 c.418G>T c.(418-420)GAA>TAA p.E140* NDEL1_uc002gli.2_Nonsense_Mutation_p.E140* NM_030808 NP_110435 Q9GZM8 NDEL1_HUMAN nudE nuclear distribution gene E homolog (A. 140 Interaction with KATNB1 (By similarity).|Potential.|Self-association (By similarity). chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|microtubule|spindle 0 GGAAGACTTTGAACAAAGGCT 0.333 18 65 --- --- --- --- PASS WDR16 146845 broad.mit.edu 37 17 9480081 9480081 + Missense_Mutation SNP T G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:9480081T>G uc002gly.2 + 1 138 c.69T>G c.(67-69)AAT>AAG p.N23K STX8_uc002glx.2_5'Flank|WDR16_uc002glz.2_Missense_Mutation_p.N23K|WDR16_uc010coc.2_5'UTR NM_145054 NP_659491 Q8N1V2 WDR16_HUMAN WD40-repeat protein upregulated in HCC isoform 23 cytoplasm|intracellular membrane-bounded organelle protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 TCGGCTTCAATGGTGAGGCCT 0.537 OREG0024167 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 41 --- --- --- --- PASS GAS7 8522 broad.mit.edu 37 17 9830031 9830031 + Missense_Mutation SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:9830031T>A uc002gmg.1 - 10 1102 c.941A>T c.(940-942)GAC>GTC p.D314V GAS7_uc010vvc.1_Missense_Mutation_p.D128V|GAS7_uc002gmh.1_Missense_Mutation_p.D174V|GAS7_uc010vvd.1_Missense_Mutation_p.D266V|GAS7_uc002gmi.2_Missense_Mutation_p.D250V|GAS7_uc002gmj.1_Missense_Mutation_p.D254V|GAS7_uc010coh.1_Missense_Mutation_p.D254V NM_201433 NP_958839 O60861 GAS7_HUMAN growth arrest-specific 7 isoform c 314 Potential. cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity lung(1)|pancreas(1) 2 CTTCTTCATGTCTTTCTTGAA 0.592 T MLL AML* 43 69 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10356533 10356533 + Missense_Mutation SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:10356533A>G uc002gmn.2 - 24 3158 c.3047T>C c.(3046-3048)ATG>ACG p.M1016T uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1016 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 GTCCTCCTCCATCTGCAGGTC 0.493 55 76 --- --- --- --- PASS MYOCD 93649 broad.mit.edu 37 17 12656550 12656550 + Missense_Mutation SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:12656550A>G uc002gnn.2 + 10 2244 c.1945A>G c.(1945-1947)ATC>GTC p.I649V MYOCD_uc002gno.2_Missense_Mutation_p.I649V|MYOCD_uc002gnp.1_Missense_Mutation_p.I553V|MYOCD_uc002gnq.2_Missense_Mutation_p.I368V NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 649 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CCCACAGCACATCAGTTTGCC 0.582 37 142 --- --- --- --- PASS TBC1D26 353149 broad.mit.edu 37 17 15641352 15641352 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:15641352G>T uc010cov.2 + 6 490 c.240G>T c.(238-240)AAG>AAT p.K80N TBC1D26_uc010cou.1_Missense_Mutation_p.K80N|TBC1D26_uc002gpb.3_RNA NM_178571 NP_848666 Q86UD7 TBC26_HUMAN TBC1 domain family, member 26 80 intracellular Rab GTPase activator activity 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078) AGTGGCAAAAGATGCTTGCAG 0.542 18 114 --- --- --- --- PASS MYO15A 51168 broad.mit.edu 37 17 18039048 18039048 + Silent SNP A C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:18039048A>C uc010vxh.1 + 12 4844 c.4506A>C c.(4504-4506)TCA>TCC p.S1502S NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 1502 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) AGGTGGCCTCAGTGGTGAGTG 0.488 12 34 --- --- --- --- PASS MYO15A 51168 broad.mit.edu 37 17 18070961 18070961 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:18070961G>A uc010vxh.1 + 61 10344 c.10006G>A c.(10006-10008)GAG>AAG p.E3336K MYO15A_uc010vxi.1_Missense_Mutation_p.E600K|MYO15A_uc010vxk.1_Missense_Mutation_p.E29K|MYO15A_uc010vxl.1_Missense_Mutation_p.E325K|MYO15A_uc002gsl.2_Missense_Mutation_p.E343K|MYO15A_uc010vxm.1_Intron|MYO15A_uc010cpv.2_RNA NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 3336 Tail.|FERM. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) CCGGCCCAGCGAGCAGCTGCT 0.662 18 21 --- --- --- --- PASS TOP3A 7156 broad.mit.edu 37 17 18178286 18178286 + Missense_Mutation SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:18178286C>G uc002gsx.1 - 19 3065 c.2836G>C c.(2836-2838)GGA>CGA p.G946R TOP3A_uc010cpz.1_Missense_Mutation_p.G398R|TOP3A_uc010vxr.1_Missense_Mutation_p.G476R|TOP3A_uc002gsw.1_Missense_Mutation_p.G398R|TOP3A_uc010vxs.1_Missense_Mutation_p.G844R NM_004618 NP_004609 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 946 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding skin(3) 3 GACGGGGCTCCAGAAGTCCCT 0.502 50 67 --- --- --- --- PASS FNDC8 54752 broad.mit.edu 37 17 33456482 33456482 + Silent SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:33456482C>T uc002hix.2 + 3 709 c.627C>T c.(625-627)TTC>TTT p.F209F NM_017559 NP_060029 Q8TC99 FNDC8_HUMAN fibronectin type III domain containing 8 209 Fibronectin type-III. ovary(2) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.022) CGGTCAGTTTCTACCAGCTCC 0.537 39 55 --- --- --- --- PASS TAF15 8148 broad.mit.edu 37 17 34171708 34171708 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:34171708G>C uc002hkd.2 + 15 1491 c.1405G>C c.(1405-1407)GGC>CGC p.G469R TAF15_uc002hkc.2_Missense_Mutation_p.G466R NM_139215 NP_631961 Q92804 RBP56_HUMAN TBP-associated factor 15 isoform 1 469 Arg/Gly-rich.|21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|8. positive regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding TAF15/NR4A3(33) bone(33)|lung(1)|skin(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) ggacagaggaggcggctatgg 0.000 T TEC|CHN1|ZNF384 extraskeletal myxoid chondrosarcomas|ALL 3 9 --- --- --- --- PASS SRCIN1 80725 broad.mit.edu 37 17 36714569 36714569 + Nonsense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:36714569C>A uc002hqd.2 - 11 2320 c.2095G>T c.(2095-2097)GAG>TAG p.E699* SRCIN1_uc002hqf.1_Nonsense_Mutation_p.E571*|SRCIN1_uc002hqe.2_Nonsense_Mutation_p.E553*|SRCIN1_uc002hqg.2_Nonsense_Mutation_p.E5* NM_025248 NP_079524 Q9C0H9 SRCN1_HUMAN SNAP25-interacting protein 571 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding 0 CGCGCCGCCTCCGACACGCGC 0.682 OREG0024362 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 18 --- --- --- --- PASS CDC27 996 broad.mit.edu 37 17 45235617 45235617 + Missense_Mutation SNP A C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:45235617A>C uc002ild.3 - 5 557 c.430T>G c.(430-432)TTA>GTA p.L144V CDC27_uc002ile.3_Missense_Mutation_p.L144V|CDC27_uc002ilf.3_Missense_Mutation_p.L144V|CDC27_uc010wkp.1_Missense_Mutation_p.L83V|CDC27_uc010wkq.1_RNA NM_001256 NP_001247 P30260 CDC27_HUMAN cell division cycle protein 27 isoform 2 144 TPR 2. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding lung(2)|breast(2)|ovary(1) 5 AAAGGATTTAAACTAAGGCTC 0.433 12 35 --- --- --- --- PASS NPEPPS 9520 broad.mit.edu 37 17 45668243 45668243 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:45668243T>C uc002ilr.3 + 10 1479 c.1256T>C c.(1255-1257)ATT>ACT p.I419T NPEPPS_uc010wkt.1_Missense_Mutation_p.I415T|NPEPPS_uc010wku.1_Missense_Mutation_p.I383T|NPEPPS_uc010wkv.1_5'UTR NM_006310 NP_006301 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 419 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding 0 AGCCATCCTATTGAAGTGAGC 0.398 16 159 --- --- --- --- PASS NGFR 4804 broad.mit.edu 37 17 47587857 47587857 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:47587857C>A uc002ioz.3 + 4 777 c.652C>A c.(652-654)CCT>ACT p.P218T NM_002507 NP_002498 P08138 TNR16_HUMAN nerve growth factor receptor precursor 218 Ser/Thr-rich.|Extracellular (Potential). anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm ovary(1)|lung(1) 2 all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17) GCCTGAGGCACCTCCAGAACA 0.642 4 108 --- --- --- --- PASS DLX3 1747 broad.mit.edu 37 17 48069069 48069069 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:48069069G>T uc002ipy.2 - 3 902 c.676C>A c.(676-678)CCT>ACT p.P226T NM_005220 NP_005211 O60479 DLX3_HUMAN distal-less homeobox 3 226 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CTGCGGGCAGGGGCCGGAGTG 0.642 15 24 --- --- --- --- PASS CACNA1G 8913 broad.mit.edu 37 17 48649240 48649240 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:48649240C>A uc002irk.1 + 5 960 c.588C>A c.(586-588)AGC>AGA p.S196R CACNA1G_uc002iri.1_Missense_Mutation_p.S196R|CACNA1G_uc002irj.1_Missense_Mutation_p.S196R|CACNA1G_uc002irl.1_Missense_Mutation_p.S196R|CACNA1G_uc002irm.1_Missense_Mutation_p.S196R|CACNA1G_uc002irn.1_Missense_Mutation_p.S196R|CACNA1G_uc002iro.1_Missense_Mutation_p.S196R|CACNA1G_uc002irp.1_Missense_Mutation_p.S196R|CACNA1G_uc002irq.1_Missense_Mutation_p.S196R|CACNA1G_uc002irr.1_Missense_Mutation_p.S196R|CACNA1G_uc002irs.1_Missense_Mutation_p.S196R|CACNA1G_uc002irt.1_Missense_Mutation_p.S196R|CACNA1G_uc002irv.1_Missense_Mutation_p.S196R|CACNA1G_uc002irw.1_Missense_Mutation_p.S196R|CACNA1G_uc002iru.1_Missense_Mutation_p.S196R|CACNA1G_uc002irx.1_Missense_Mutation_p.S109R|CACNA1G_uc002iry.1_Missense_Mutation_p.S109R|CACNA1G_uc002irz.1_Missense_Mutation_p.S109R|CACNA1G_uc002isa.1_Missense_Mutation_p.S109R|CACNA1G_uc002isb.1_Missense_Mutation_p.S109R|CACNA1G_uc002isc.1_Missense_Mutation_p.S109R|CACNA1G_uc002isd.1_Missense_Mutation_p.S109R|CACNA1G_uc002ise.1_Missense_Mutation_p.S109R|CACNA1G_uc002isf.1_Missense_Mutation_p.S109R|CACNA1G_uc002isg.1_Missense_Mutation_p.S109R|CACNA1G_uc002ish.1_Missense_Mutation_p.S109R|CACNA1G_uc002isi.1_Missense_Mutation_p.S109R NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 196 I.|Cytoplasmic (Potential). axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CCCCCACAGGCATGCGCATCC 0.662 14 48 --- --- --- --- PASS WFIKKN2 124857 broad.mit.edu 37 17 48917537 48917537 + Silent SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:48917537G>A uc002isv.3 + 2 1582 c.888G>A c.(886-888)CTG>CTA p.L296L WFIKKN2_uc010dbu.2_Silent_p.L203L NM_175575 NP_783165 Q8TEU8 WFKN2_HUMAN WFIKKN2 protein 296 Ig-like C2-type. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) CTGGGGTCCTGAGGGCTGATT 0.637 8 51 --- --- --- --- PASS OR4D2 124538 broad.mit.edu 37 17 56247867 56247867 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:56247867C>T uc010wnp.1 + 1 851 c.851C>T c.(850-852)CCC>CTC p.P284L NM_001004707 NP_001004707 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, 284 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 ATGCTCAACCCCATGATCTAT 0.517 29 143 --- --- --- --- PASS LPO 4025 broad.mit.edu 37 17 56343621 56343621 + Missense_Mutation SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:56343621C>G uc002ivt.2 + 11 1943 c.1627C>G c.(1627-1629)CAC>GAC p.H543D LPO_uc010wns.1_Missense_Mutation_p.H484D|LPO_uc010dcp.2_Missense_Mutation_p.H460D|LPO_uc010dcq.2_Missense_Mutation_p.H214D|LPO_uc010dcr.2_Missense_Mutation_p.H106D NM_006151 NP_006142 P22079 PERL_HUMAN lactoperoxidase isoform 1 preproprotein 543 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|breast(1) 2 CCAGCCAACTCACAGGATCCA 0.542 13 51 --- --- --- --- PASS CLTC 1213 broad.mit.edu 37 17 57733350 57733350 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:57733350G>T uc002ixq.1 + 6 1374 c.931G>T c.(931-933)GCC>TCC p.A311S CLTC_uc002ixp.2_Missense_Mutation_p.A311S|CLTC_uc002ixr.1_Missense_Mutation_p.A315S NM_004859 NP_004850 Q00610 CLH1_HUMAN clathrin heavy chain 1 311 Globular terminal domain. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1) 48 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) ACCTCATGAAGCCACAGCTGG 0.378 T ALK|TFE3 ALCL|renal 25 96 --- --- --- --- PASS GNA13 10672 broad.mit.edu 37 17 63010558 63010558 + Silent SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:63010558G>A uc002jfc.2 - 4 1160 c.951C>T c.(949-951)CAC>CAT p.H317H GNA13_uc010wqh.1_Silent_p.H222H NM_006572 NP_006563 Q14344 GNA13_HUMAN guanine nucleotide binding protein (G protein), 317 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex|melanosome D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding 0 CTCTTAAGCAGTGGGGATCCC 0.448 42 64 --- --- --- --- PASS AMZ2 51321 broad.mit.edu 37 17 66251840 66251840 + Splice_Site SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:66251840G>T uc002jgs.1 + 7 868 c.751_splice c.e7-1 p.T251_splice AMZ2_uc002jgr.1_Splice_Site_p.T251_splice|AMZ2_uc002jgt.1_Splice_Site_p.T251_splice|AMZ2_uc002jgu.1_Splice_Site_p.T251_splice|AMZ2_uc002jgv.1_Splice_Site_p.T251_splice|AMZ2_uc002jgw.1_Splice_Site_p.T193_splice|AMZ2_uc002jgy.1_Splice_Site_p.T251_splice NM_001033572 NP_001028744 Q86W34 AMZ2_HUMAN archaemetzincins-2 isoform 1 metallopeptidase activity|zinc ion binding 0 all_cancers(12;1.12e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) TTGTCTTGCAGACTTTAACCC 0.468 58 95 --- --- --- --- PASS ABCA8 10351 broad.mit.edu 37 17 66928541 66928541 + Missense_Mutation SNP A T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr17:66928541A>T uc002jhp.2 - 6 864 c.685T>A c.(685-687)TGC>AGC p.C229S ABCA8_uc002jhq.2_Missense_Mutation_p.C229S|ABCA8_uc010wqq.1_Missense_Mutation_p.C229S|ABCA8_uc010wqr.1_Missense_Mutation_p.C168S|ABCA8_uc002jhr.2_Missense_Mutation_p.C229S|ABCA8_uc002jhs.2_Missense_Mutation_p.C229S|ABCA8_uc002jht.2_Missense_Mutation_p.C229S NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 229 Helical; (Potential). integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) GAAATAATGCAGGAAAAAAGG 0.383 14 79 --- --- --- --- PASS CETN1 1068 broad.mit.edu 37 18 580553 580553 + Missense_Mutation SNP G T T rs116290875 by1000genomes TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr18:580553G>T uc002kko.1 + 1 187 c.145G>T c.(145-147)GAC>TAC p.D49Y NM_004066 NP_004057 Q12798 CETN1_HUMAN centrin 1 49 1 (Probable).|EF-hand 1. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding upper_aerodigestive_tract(1)|ovary(1) 2 TGGGACCATCGACGCGAAGGA 0.557 9 46 --- --- --- --- PASS YES1 7525 broad.mit.edu 37 18 724498 724498 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr18:724498C>T uc002kky.2 - 12 1779 c.1558G>A c.(1558-1560)GAA>AAA p.E520K YES1_uc002kkz.2_Missense_Mutation_p.E520K NM_005433 NP_005424 P07947 YES_HUMAN viral oncogene yes-1 homolog 1 520 Protein kinase. blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation cytosol|plasma membrane ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity lung(2)|ovary(1) 3 Dasatinib(DB01254) TGAATATATTCAAATGTTGGT 0.438 13 86 --- --- --- --- PASS LAMA3 3909 broad.mit.edu 37 18 21478918 21478918 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr18:21478918G>T uc002kuq.2 + 46 5811 c.5725G>T c.(5725-5727)GCT>TCT p.A1909S LAMA3_uc002kur.2_Missense_Mutation_p.A1909S|LAMA3_uc002kus.3_Missense_Mutation_p.A300S|LAMA3_uc002kut.3_Missense_Mutation_p.A300S NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 1909 Domain II and I.|Potential. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTTCATATAGGCTCAAGTAAA 0.313 8 33 --- --- --- --- PASS NOL4 8715 broad.mit.edu 37 18 31802995 31802995 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr18:31802995C>A uc010dmi.2 - 1 452 c.223G>T c.(223-225)GGC>TGC p.G75C NOL4_uc002kxr.3_5'Flank|NOL4_uc010xbt.1_5'Flank|NOL4_uc010dmh.2_5'Flank|NOL4_uc010xbu.1_Missense_Mutation_p.G75C|NOL4_uc002kxt.3_Missense_Mutation_p.G75C NM_003787 NP_003778 O94818 NOL4_HUMAN nucleolar protein 4 75 nucleolus RNA binding ovary(3) 3 TTGGCGCCGCCGCCTCCCCCG 0.632 37 33 --- --- --- --- PASS WDR7 23335 broad.mit.edu 37 18 54398666 54398666 + Silent SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr18:54398666T>C uc002lgk.1 + 14 2038 c.1827T>C c.(1825-1827)GCT>GCC p.A609A WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Silent_p.A609A NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 609 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) TTCTAAACGCTTGTGATGAAG 0.388 8 47 --- --- --- --- PASS SERPINB4 6318 broad.mit.edu 37 18 61304959 61304959 + Silent SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr18:61304959G>T uc002ljf.2 - 8 1253 c.1167C>A c.(1165-1167)TCC>TCA p.S389S SERPINB4_uc002lje.2_Silent_p.S368S|SERPINB4_uc002ljg.2_Silent_p.S389S NM_002974 NP_002965 P48594 SPB4_HUMAN serine (or cysteine) proteinase inhibitor, clade 389 immune response|regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(2)|lung(1) 3 GCATCTATGGGGATGAGAATC 0.398 64 63 --- --- --- --- PASS DOK6 220164 broad.mit.edu 37 18 67231765 67231765 + Missense_Mutation SNP A C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr18:67231765A>C uc002lkl.2 + 2 299 c.109A>C c.(109-111)AAA>CAA p.K37Q NM_152721 NP_689934 Q6PKX4 DOK6_HUMAN docking protein 6 37 PH. insulin receptor binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Colorectal(73;0.083)|Esophageal squamous(42;0.131) GGCTTCTAGCAAAGGACCCAG 0.388 25 26 --- --- --- --- PASS DOK6 220164 broad.mit.edu 37 18 67231767 67231767 + Missense_Mutation SNP A T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr18:67231767A>T uc002lkl.2 + 2 301 c.111A>T c.(109-111)AAA>AAT p.K37N NM_152721 NP_689934 Q6PKX4 DOK6_HUMAN docking protein 6 37 PH. insulin receptor binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Colorectal(73;0.083)|Esophageal squamous(42;0.131) CTTCTAGCAAAGGACCCAGAA 0.388 26 27 --- --- --- --- PASS PRSSL1 400668 broad.mit.edu 37 19 694935 694935 + Missense_Mutation SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:694935C>G uc002lpl.1 - 2 146 c.115G>C c.(115-117)GAG>CAG p.E39Q PRSSL1_uc010xfs.1_Missense_Mutation_p.E38Q NM_214710 NP_999875 Q6UWY2 PRS57_HUMAN protease, serine-like 1 precursor 39 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGGTCACCTCGTGGCCCCCG 0.706 11 9 --- --- --- --- PASS THOP1 7064 broad.mit.edu 37 19 2810340 2810340 + Silent SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:2810340G>T uc002lwj.2 + 10 1649 c.1494G>T c.(1492-1494)CGG>CGT p.R498R THOP1_uc010xgz.1_Silent_p.R377R|THOP1_uc002lwk.2_Silent_p.R9R NM_003249 NP_003240 P52888 THOP1_HUMAN thimet oligopeptidase 1 498 proteolysis cytoplasm metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACGTGGAGCGGGACTTTGTGG 0.692 5 21 --- --- --- --- PASS PLIN4 729359 broad.mit.edu 37 19 4513257 4513257 + Missense_Mutation SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:4513257A>G uc002mar.1 - 3 673 c.673T>C c.(673-675)TCC>CCC p.S225P PLIN4_uc010dub.1_5'Flank NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN plasma membrane associated protein, S3-12 225 27 X 33 AA approximate tandem repeat.|4. lipid particle|plasma membrane 0 AGCCCAGTGGACACAGCATCT 0.577 7 246 --- --- --- --- PASS CD209 30835 broad.mit.edu 37 19 7810768 7810768 + Silent SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:7810768G>C uc002mht.2 - 4 451 c.384C>G c.(382-384)ACC>ACG p.T128T CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Silent_p.T104T|CD209_uc002mhr.2_Silent_p.T104T|CD209_uc002mhs.2_Silent_p.T104T|CD209_uc002mhu.2_Silent_p.T128T|CD209_uc010dvq.2_Silent_p.T128T|CD209_uc002mhq.2_Silent_p.T128T|CD209_uc002mhv.2_Silent_p.T104T|CD209_uc002mhx.2_Silent_p.T84T|CD209_uc002mhw.2_Silent_p.T84T|CD209_uc010dvr.2_Intron NM_021155 NP_066978 Q9NNX6 CD209_HUMAN CD209 molecule isoform 1 128 Extracellular (Probable).|2.|7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding skin(1) 1 CCTTCAGCCGGGTCAGCTCCT 0.572 72 153 --- --- --- --- PASS PRAM1 84106 broad.mit.edu 37 19 8563166 8563166 + Silent SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:8563166C>A uc002mkd.2 - 3 1460 c.1440G>T c.(1438-1440)CGG>CGT p.R480R PRAM1_uc002mkc.2_Silent_p.R480R NM_032152 NP_115528 Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 528 lipid binding|protein binding 0 AGCGGGTCCTCCGTAGATCTG 0.682 13 17 --- --- --- --- PASS OR2Z1 284383 broad.mit.edu 37 19 8841616 8841616 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:8841616G>T uc010xkg.1 + 1 226 c.226G>T c.(226-228)GTC>TTC p.V76F NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, 76 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 CTGTCCCATGGTCACCATCCC 0.542 44 85 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9005596 9005596 + Silent SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:9005596T>C uc002mkp.2 - 46 40014 c.39810A>G c.(39808-39810)GGA>GGG p.G13270G MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.G87G|MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13272 SEA 8.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGGTGTAGGGTCCCAGCTCAG 0.552 83 141 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9056214 9056214 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:9056214G>C uc002mkp.2 - 3 31436 c.31232C>G c.(31231-31233)ACA>AGA p.T10411R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10413 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ATAAGCACTTGTCACTGTTCC 0.483 98 208 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9056609 9056609 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:9056609C>A uc002mkp.2 - 3 31041 c.30837G>T c.(30835-30837)ATG>ATT p.M10279I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10281 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ATAGAGAAGGCATCACTGTGC 0.483 47 75 --- --- --- --- PASS OR7G2 390882 broad.mit.edu 37 19 9213749 9213749 + Silent SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:9213749G>T uc010xkk.1 - 1 234 c.234C>A c.(232-234)ACC>ACA p.T78T NM_001005193 NP_001005193 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, 57 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 AGTACATGGGGGTGTGGAGGT 0.502 42 84 --- --- --- --- PASS ZNF560 147741 broad.mit.edu 37 19 9584931 9584931 + Missense_Mutation SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:9584931T>A uc002mlp.1 - 4 311 c.101A>T c.(100-102)CAG>CTG p.Q34L ZNF560_uc010dwr.1_5'UTR NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 34 KRAB 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 TAAGTTTCTCTGAACTGGGTC 0.438 48 98 --- --- --- --- PASS DNMT1 1786 broad.mit.edu 37 19 10251546 10251546 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:10251546T>C uc002mng.2 - 31 3566 c.3386A>G c.(3385-3387)GAG>GGG p.E1129G DNMT1_uc002mne.2_5'Flank|DNMT1_uc002mnf.2_Missense_Mutation_p.E53G|DNMT1_uc010xlc.1_Missense_Mutation_p.E1145G|DNMT1_uc002mnh.2_Missense_Mutation_p.E1024G|DNMT1_uc010xld.1_Missense_Mutation_p.E1129G NM_001379 NP_001370 P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 isoform b 1129 Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) TATCTCTGGCTCGCTCGGCTC 0.617 64 126 --- --- --- --- PASS ICAM5 7087 broad.mit.edu 37 19 10404741 10404741 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:10404741C>A uc002mnu.3 + 8 1802 c.1737C>A c.(1735-1737)AGC>AGA p.S579R ICAM5_uc002mnv.3_Missense_Mutation_p.S454R NM_003259 NP_003250 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5 precursor 579 Extracellular (Potential).|Ig-like C2-type 7. cell-cell adhesion integral to plasma membrane breast(3) 3 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) AGGAGCCGAGCTGCCCCAGCA 0.627 4 98 --- --- --- --- PASS ZNF653 115950 broad.mit.edu 37 19 11598248 11598248 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:11598248C>A uc002mrz.1 - 4 1083 c.1030G>T c.(1030-1032)GGT>TGT p.G344C NM_138783 NP_620138 Q96CK0 ZN653_HUMAN zinc finger protein 653 344 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCGGGGACACCGCTGCCTGCT 0.657 29 48 --- --- --- --- PASS MAN2B1 4125 broad.mit.edu 37 19 12768923 12768923 + Silent SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:12768923C>G uc002mub.2 - 10 1339 c.1263G>C c.(1261-1263)CTG>CTC p.L421L MAN2B1_uc010dyv.1_Silent_p.L420L NM_000528 NP_000519 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 421 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding ovary(4)|central_nervous_system(2) 6 CGTTGGCCGCCAGGCCCACCA 0.667 32 49 --- --- --- --- PASS MAST1 22983 broad.mit.edu 37 19 12963199 12963199 + Missense_Mutation SNP A T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:12963199A>T uc002mvm.2 + 10 1195 c.1067A>T c.(1066-1068)GAT>GTT p.D356V MAST1_uc002mvk.2_Missense_Mutation_p.D352V NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 356 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 GAGCAAGACGATCTCTCTGAG 0.323 19 66 --- --- --- --- PASS WIZ 58525 broad.mit.edu 37 19 15536511 15536511 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:15536511C>A uc002nbc.2 - 5 1695 c.1672G>T c.(1672-1674)GGC>TGC p.G558C WIZ_uc002nba.3_Missense_Mutation_p.G425C|WIZ_uc002nbb.3_Missense_Mutation_p.G384C NM_021241 NP_067064 O95785 WIZ_HUMAN widely-interspaced zinc finger motifs 1241 C2H2-type 9. nucleus zinc ion binding 0 CTCGACAGGCCCTTGCGGTTC 0.597 22 27 --- --- --- --- PASS EPS15L1 58513 broad.mit.edu 37 19 16535895 16535895 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:16535895T>C uc002ndz.1 - 9 797 c.791A>G c.(790-792)CAG>CGG p.Q264R EPS15L1_uc002ndx.2_Missense_Mutation_p.Q264R|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Missense_Mutation_p.Q154R|EPS15L1_uc010xpf.1_Missense_Mutation_p.Q167R|EPS15L1_uc002nea.1_Missense_Mutation_p.Q264R|EPS15L1_uc010eah.1_Missense_Mutation_p.Q264R|EPS15L1_uc002neb.1_Missense_Mutation_p.Q110R|EPS15L1_uc002nec.1_Missense_Mutation_p.Q264R NM_021235 NP_067058 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway 264 endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding ovary(3)|skin(2) 5 GCTCCGTACCTGTGTTTGCTT 0.602 3 115 --- --- --- --- PASS UNC13A 23025 broad.mit.edu 37 19 17720813 17720813 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:17720813G>T uc002nhd.2 - 42 5011 c.5011C>A c.(5011-5013)CGC>AGC p.R1671S NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 1583 C2 3. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 GCAAACTTGCGTTTCTTGTCG 0.522 65 121 --- --- --- --- PASS C19orf50 79036 broad.mit.edu 37 19 18679273 18679273 + Silent SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:18679273G>T uc002njo.2 + 5 505 c.363G>T c.(361-363)ACG>ACT p.T121T C19orf50_uc002njp.2_RNA|C19orf50_uc002njq.2_Silent_p.T121T NM_024069 NP_076974 Q9BQD3 CS050_HUMAN hypothetical protein LOC79036 121 protein binding 0 CCAGCACCACGACCACCATTG 0.612 155 357 --- --- --- --- PASS ZNF626 199777 broad.mit.edu 37 19 20807265 20807265 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:20807265T>C uc002npb.1 - 4 1568 c.1418A>G c.(1417-1419)AAA>AGA p.K473R ZNF626_uc002npc.1_Missense_Mutation_p.K397R NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 473 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 AGTATGAATTTTCTTATGTGT 0.388 2 12 --- --- --- --- PASS ZNF626 199777 broad.mit.edu 37 19 20807398 20807398 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:20807398C>T uc002npb.1 - 4 1435 c.1285G>A c.(1285-1287)GAA>AAA p.E429K ZNF626_uc002npc.1_Missense_Mutation_p.E353K NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 429 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 TTGCCACATTCTTCACATTTG 0.383 12 101 --- --- --- --- PASS ZNF493 284443 broad.mit.edu 37 19 21607137 21607137 + Missense_Mutation SNP A T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:21607137A>T uc002npx.2 + 2 1572 c.1292A>T c.(1291-1293)CAC>CTC p.H431L ZNF493_uc002npw.2_Missense_Mutation_p.H559L|ZNF493_uc002npy.2_Missense_Mutation_p.H431L NM_175910 NP_787106 Q6ZR52 ZN493_HUMAN zinc finger protein 493 isoform 1 431 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CGGTCCTCACACCTTACTACA 0.358 7 34 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22154701 22154701 + Silent SNP A C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:22154701A>C uc002nqp.2 - 6 2900 c.2751T>G c.(2749-2751)ACT>ACG p.T917T ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) CCTTATGTTCAGTAAGGCTTG 0.443 49 127 --- --- --- --- PASS ZNF257 113835 broad.mit.edu 37 19 22271571 22271571 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:22271571G>C uc010ecx.2 + 4 1188 c.1019G>C c.(1018-1020)GGA>GCA p.G340A ZNF257_uc010ecy.2_Missense_Mutation_p.G308A NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 340 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) ATTCATACTGGAGAGAAACCC 0.403 20 45 --- --- --- --- PASS PLEKHF1 79156 broad.mit.edu 37 19 30164860 30164860 + Silent SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:30164860C>T uc002nsh.3 + 2 216 c.114C>T c.(112-114)GGC>GGT p.G38G PLEKHF1_uc002nsi.3_Silent_p.G123G NM_024310 NP_077286 Q96S99 PKHF1_HUMAN apoptosis-inducing protein D 38 PH. apoptosis lysosome|nucleus|perinuclear region of cytoplasm metal ion binding 0 Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225) TGCTGCTGGGCGAGGGCGTGC 0.637 27 48 --- --- --- --- PASS SBSN 374897 broad.mit.edu 37 19 36017690 36017690 + Silent SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:36017690G>T uc002oae.1 - 2 535 c.465C>A c.(463-465)GTC>GTA p.V155V SBSN_uc002oad.1_Silent_p.V498V NM_198538 NP_940940 Q6UWP8 SBSN_HUMAN suprabasin isoform 2 precursor 155 Ala/Gly/His-rich. extracellular region ovary(1) 1 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CAGCATGGTTGACCCCTTGGC 0.597 32 70 --- --- --- --- PASS MLL4 9757 broad.mit.edu 37 19 36223758 36223758 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:36223758C>T uc010eei.2 + 29 6308 c.6308C>T c.(6307-6309)GCC>GTC p.A2103V NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 2103 chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGGGACAGGGCCCGGCCTCCT 0.657 5 12 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 38993304 38993304 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:38993304G>T uc002oit.2 + 48 7902 c.7772G>T c.(7771-7773)CGG>CTG p.R2591L RYR1_uc002oiu.2_Missense_Mutation_p.R2591L|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2591 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CGCCTGTCTCGGGGTCGTTCG 0.577 17 46 --- --- --- --- PASS MAP4K1 11184 broad.mit.edu 37 19 39096258 39096258 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:39096258C>T uc002oix.1 - 18 1421 c.1313G>A c.(1312-1314)CGT>CAT p.R438H MAP4K1_uc002oiw.1_Missense_Mutation_p.R25H|MAP4K1_uc002oiy.1_Missense_Mutation_p.R438H|MAP4K1_uc010xug.1_Missense_Mutation_p.R100H NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 438 activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) AGGCCCAGGACGGGGGCTGTT 0.687 9 9 --- --- --- --- PASS FCGBP 8857 broad.mit.edu 37 19 40392476 40392476 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:40392476G>C uc002omp.3 - 16 8036 c.8028C>G c.(8026-8028)CAC>CAG p.H2676Q NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 2676 VWFD 6. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CCACCAGCTTGTGGCAAGAGG 0.577 4 21 --- --- --- --- PASS PGLYRP1 8993 broad.mit.edu 37 19 46526126 46526126 + Silent SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:46526126G>A uc002pdx.1 - 1 198 c.154C>T c.(154-156)CTG>TTG p.L52L NM_005091 NP_005082 O75594 PGRP1_HUMAN peptidoglycan recognition protein 1 precursor 52 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(2) 2 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208) CGTAAGGGCAGGCTCAGGTGC 0.662 8 21 --- --- --- --- PASS SLC6A16 28968 broad.mit.edu 37 19 49812653 49812653 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:49812653C>A uc002pmz.2 - 6 1126 c.892G>T c.(892-894)GTA>TTA p.V298L SLC6A16_uc002pna.2_Missense_Mutation_p.V298L|hsa-mir-4324|MI0015854_5'Flank NM_014037 NP_054756 Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 298 Helical; Name=5; (Potential). integral to membrane|intracellular neurotransmitter:sodium symporter activity skin(2)|ovary(1)|kidney(1) 4 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) GGGAGCAGTACCAAGACATAG 0.478 16 32 --- --- --- --- PASS SIGLEC10 89790 broad.mit.edu 37 19 51917030 51917030 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:51917030G>A uc002pwo.2 - 10 2373 c.1757C>T c.(1756-1758)CCC>CTC p.P586L SIGLEC10_uc002pwp.2_Missense_Mutation_p.P528L|SIGLEC10_uc002pwq.2_Missense_Mutation_p.P433L|SIGLEC10_uc002pwr.2_Missense_Mutation_p.P491L|SIGLEC10_uc010ycy.1_Missense_Mutation_p.P401L|SIGLEC10_uc010ycz.1_Missense_Mutation_p.P443L|SIGLEC10_uc010eow.2_Missense_Mutation_p.P303L|SIGLEC10_uc002pws.1_Missense_Mutation_p.P327L NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 586 Cytoplasmic (Potential). cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GGAGAACCTGGGCCTCGGGGT 0.542 50 110 --- --- --- --- PASS SIGLEC6 946 broad.mit.edu 37 19 52034754 52034754 + Silent SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:52034754C>G uc002pwy.2 - 2 249 c.87G>C c.(85-87)CGG>CGC p.R29R SIGLEC6_uc002pwz.2_Silent_p.R29R|SIGLEC6_uc002pxa.2_Silent_p.R29R|SIGLEC6_uc010ydb.1_Intron|SIGLEC6_uc010ydc.1_Silent_p.R18R|SIGLEC6_uc010eoz.1_Silent_p.R18R|SIGLEC6_uc010epb.1_Intron|SIGLEC6_uc010epa.1_Silent_p.R18R NM_001245 NP_001236 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 isoform 1 29 Extracellular (Potential).|Ig-like V-type. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus ovary(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) GCTGGAATCTCCGCTCCTGAG 0.657 27 67 --- --- --- --- PASS FPR1 2357 broad.mit.edu 37 19 52249292 52249292 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:52249292C>T uc002pxq.2 - 2 1051 c.956G>A c.(955-957)AGT>AAT p.S319N NM_002029 NP_002020 P21462 FPR1_HUMAN formyl peptide receptor 1 319 Cytoplasmic (Potential). activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity ovary(1)|lung(1)|skin(1) 3 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) CCTCTCCAGACTGGCGGGAAG 0.562 56 99 --- --- --- --- PASS ZNF665 79788 broad.mit.edu 37 19 53678739 53678739 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:53678739C>A uc010eqm.1 - 3 201 c.101G>T c.(100-102)AGG>ATG p.R34M NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN zinc finger protein 665 Error:Variant_position_missing_in_Q9H7R5_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0196) CATGACGTCCCTGTACAAAGT 0.453 44 113 --- --- --- --- PASS DPRX 503834 broad.mit.edu 37 19 54140174 54140174 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:54140174C>A uc002qcf.1 + 3 559 c.508C>A c.(508-510)CAA>AAA p.Q170K NM_001012728 NP_001012746 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 170 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) TTTGGAATCCCAAGTTTGCGC 0.443 43 129 --- --- --- --- PASS PRKCG 5582 broad.mit.edu 37 19 54401275 54401275 + Silent SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:54401275C>A uc002qcq.1 + 10 1284 c.1002C>A c.(1000-1002)CCC>CCA p.P334P PRKCG_uc010yef.1_Missense_Mutation_p.P305Q|PRKCG_uc010yeg.1_Silent_p.P334P|PRKCG_uc010yeh.1_Silent_p.P221P NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 334 activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) CCACCGACCCCAAGCGCTGCT 0.473 29 74 --- --- --- --- PASS LILRB1 10859 broad.mit.edu 37 19 55146609 55146609 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:55146609C>A uc002qgj.2 + 12 1878 c.1538C>A c.(1537-1539)ACA>AAA p.T513K LILRB1_uc010erp.1_Missense_Mutation_p.T128K|LILRB1_uc002qgl.2_Missense_Mutation_p.T513K|LILRB1_uc002qgk.2_Missense_Mutation_p.T514K|LILRB1_uc002qgm.2_Missense_Mutation_p.T514K|LILRB1_uc010erq.2_Missense_Mutation_p.T497K|LILRB1_uc010err.2_Intron NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 513 Cytoplasmic (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) CCAGAGCCCACAGACAGAGGC 0.612 HNSCC(37;0.09) 11 34 --- --- --- --- PASS C19orf51 352909 broad.mit.edu 37 19 55670582 55670582 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:55670582C>A uc002qji.1 - 12 1508 c.1474G>T c.(1474-1476)GGC>TGC p.G492C TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.G307C|C19orf51_uc002qjj.1_Missense_Mutation_p.G539C|C19orf51_uc002qjk.1_Missense_Mutation_p.G438C|C19orf51_uc002qjl.1_Missense_Mutation_p.G559C Q8N9W5 CS051_HUMAN RecName: Full=UPF0470 protein C19orf51; 492 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) TGGGTCAGGCCCTCAAGGGCT 0.632 8 35 --- --- --- --- PASS NLRP11 204801 broad.mit.edu 37 19 56321514 56321514 + Missense_Mutation SNP C G G rs143277549 byFrequency TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:56321514C>G uc010ygf.1 - 5 1173 c.462G>C c.(460-462)GAG>GAC p.E154D NLRP11_uc002qlz.2_Missense_Mutation_p.E55D|NLRP11_uc002qmb.2_Missense_Mutation_p.E55D|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 154 ATP (Potential).|NACHT. ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CAGATGCTCTCTCTCCCATCA 0.423 24 63 --- --- --- --- PASS NLRP4 147945 broad.mit.edu 37 19 56370413 56370413 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:56370413G>C uc002qmd.3 + 3 2076 c.1654G>C c.(1654-1656)GCG>CCG p.A552P NLRP4_uc002qmf.2_Missense_Mutation_p.A477P|NLRP4_uc010etf.2_Missense_Mutation_p.A383P NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 552 ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GGATTCCTTGGCGATATTTTA 0.468 37 73 --- --- --- --- PASS NLRP5 126206 broad.mit.edu 37 19 56538652 56538652 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:56538652G>A uc002qmj.2 + 7 1053 c.1053G>A c.(1051-1053)ATG>ATA p.M351I NLRP5_uc002qmi.2_Missense_Mutation_p.M332I NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 351 NACHT. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CGGAGATCATGTCCCGACCAG 0.547 12 31 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57328278 57328278 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:57328278C>A uc002qnu.2 - 7 1883 c.1532G>T c.(1531-1533)GGA>GTA p.G511V ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G482V|PEG3_uc002qnv.2_Missense_Mutation_p.G511V|PEG3_uc002qnw.2_Missense_Mutation_p.G387V|PEG3_uc002qnx.2_Missense_Mutation_p.G385V|PEG3_uc010etr.2_Missense_Mutation_p.G511V NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 511 C2H2-type 2. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GAAGGTCTCTCCACAGTCCTT 0.448 63 141 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57328279 57328279 + Nonsense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:57328279C>A uc002qnu.2 - 7 1882 c.1531G>T c.(1531-1533)GGA>TGA p.G511* ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Nonsense_Mutation_p.G482*|PEG3_uc002qnv.2_Nonsense_Mutation_p.G511*|PEG3_uc002qnw.2_Nonsense_Mutation_p.G387*|PEG3_uc002qnx.2_Nonsense_Mutation_p.G385*|PEG3_uc010etr.2_Nonsense_Mutation_p.G511* NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 511 C2H2-type 2. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) AAGGTCTCTCCACAGTCCTTA 0.448 61 141 --- --- --- --- PASS ZNF304 57343 broad.mit.edu 37 19 57867773 57867773 + Missense_Mutation SNP G C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:57867773G>C uc010ygw.1 + 3 924 c.536G>C c.(535-537)AGC>ACC p.S179T ZNF304_uc010etw.2_Missense_Mutation_p.S226T|ZNF304_uc010etx.2_Missense_Mutation_p.S137T NM_020657 NP_065708 Q9HCX3 ZN304_HUMAN zinc finger protein 304 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) TTACCAGATAGCTCTGGCCTT 0.517 27 68 --- --- --- --- PASS ZIK1 284307 broad.mit.edu 37 19 58100030 58100030 + Silent SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:58100030C>T uc002qpg.2 + 3 293 c.196C>T c.(196-198)CTG>TTG p.L66L ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Silent_p.L11L|ZIK1_uc002qpi.2_Silent_p.L53L|ZIK1_uc002qpj.2_Intron NM_001010879 NP_001010879 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 66 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TGTAGCCTCACTGGGTAAGGC 0.502 27 71 --- --- --- --- PASS SLC27A5 10998 broad.mit.edu 37 19 59021301 59021301 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr19:59021301C>A uc002qtc.2 - 3 1080 c.970G>T c.(970-972)GCC>TCC p.A324S NM_012254 NP_036386 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid 324 Cytoplasmic (Probable). bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity 0 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) TCAGCTGTGGCCCCAGATAAG 0.577 32 53 --- --- --- --- PASS ZNF343 79175 broad.mit.edu 37 20 2464715 2464715 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr20:2464715C>A uc002wge.1 - 6 1380 c.892G>T c.(892-894)GTG>TTG p.V298L ZNF343_uc010gao.1_Missense_Mutation_p.V298L|ZNF343_uc002wgd.1_Missense_Mutation_p.V208L NM_024325 NP_077301 Q6P1L6 ZN343_HUMAN zinc finger protein 343 298 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TCACTGCACACATAAGGCTTC 0.488 34 63 --- --- --- --- PASS C20orf194 25943 broad.mit.edu 37 20 3274874 3274874 + Missense_Mutation SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr20:3274874T>A uc002wii.2 - 25 2200 c.2149A>T c.(2149-2151)ATT>TTT p.I717F C20orf194_uc002wij.3_Missense_Mutation_p.I456F|C20orf194_uc002wik.2_Missense_Mutation_p.I391F NM_001009984 NP_001009984 Q5TEA3 CT194_HUMAN hypothetical protein LOC25943 717 0 TCCTGGCTAATGCTGCTGATG 0.463 7 41 --- --- --- --- PASS SIGLEC1 6614 broad.mit.edu 37 20 3673596 3673596 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr20:3673596G>T uc002wja.2 - 14 3691 c.3691C>A c.(3691-3693)CCA>ACA p.P1231T SIGLEC1_uc002wjb.1_5'UTR|SIGLEC1_uc002wiz.3_Missense_Mutation_p.P1231T NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 1231 Ig-like C2-type 12.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 CTGGGCTGTGGCCCTCGCAGC 0.716 30 31 --- --- --- --- PASS SLC23A2 9962 broad.mit.edu 37 20 4850594 4850594 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr20:4850594C>A uc002wlg.1 - 12 1583 c.1208G>T c.(1207-1209)CGG>CTG p.R403L SLC23A2_uc010zqr.1_Missense_Mutation_p.R288L|SLC23A2_uc002wlh.1_Missense_Mutation_p.R403L|SLC23A2_uc002wli.2_Missense_Mutation_p.R402L NM_005116 NP_005107 Q9UGH3 S23A2_HUMAN solute carrier family 23 (nucleobase 403 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 ACAGGACAGCCGTGCACAGGC 0.577 54 61 --- --- --- --- PASS ANKRD5 63926 broad.mit.edu 37 20 10032359 10032359 + Silent SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr20:10032359T>C uc002wno.2 + 8 2085 c.1692T>C c.(1690-1692)TTT>TTC p.F564F uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Silent_p.F564F|ANKRD5_uc010gbz.2_Silent_p.F375F NM_022096 NP_071379 Q9NU02 ANKR5_HUMAN ankyrin repeat domain protein 5 564 ANK 6. calcium ion binding ovary(1)|breast(1) 2 CACTTCATTTTGCATGCCATG 0.373 19 103 --- --- --- --- PASS SPTLC3 55304 broad.mit.edu 37 20 13055143 13055143 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr20:13055143T>C uc002wod.1 + 4 894 c.605T>C c.(604-606)ATG>ACG p.M202T NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base 202 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups 0 Pyridoxal Phosphate(DB00114) AGGCATGAAATGGGTATGTAC 0.423 9 189 --- --- --- --- PASS SEL1L2 80343 broad.mit.edu 37 20 13830172 13830172 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr20:13830172C>A uc010gcf.2 - 20 2108 c.2026G>T c.(2026-2028)GTT>TTT p.V676F SEL1L2_uc002woq.3_Missense_Mutation_p.V537F|SEL1L2_uc010zrl.1_Missense_Mutation_p.V563F|SEL1L2_uc002wor.2_RNA NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 676 Helical; (Potential). integral to membrane binding ovary(2) 2 AGCCCAGGAACAATGAGGCCA 0.483 11 75 --- --- --- --- PASS MACROD2 140733 broad.mit.edu 37 20 14066307 14066307 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr20:14066307G>T uc002wou.2 + 3 468 c.204G>T c.(202-204)TTG>TTT p.L68F MACROD2_uc002wot.2_Missense_Mutation_p.L68F NM_080676 NP_542407 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 isoform 1 68 Macro. 0 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) AGAAAAGTTTGACTGAAAAAG 0.313 19 27 --- --- --- --- PASS SEC23B 10483 broad.mit.edu 37 20 18505080 18505080 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr20:18505080G>T uc002wqz.1 + 5 813 c.370G>T c.(370-372)GGT>TGT p.G124C SEC23B_uc002wra.1_Missense_Mutation_p.G124C|SEC23B_uc002wrb.1_Missense_Mutation_p.G124C|SEC23B_uc010zsb.1_Intron|SEC23B_uc002wrc.1_Missense_Mutation_p.G124C NM_006363 NP_006354 Q15437 SC23B_HUMAN Sec23 homolog B 124 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding ovary(1) 1 CCCAAAGCGAGGTGCTCAGTC 0.418 23 105 --- --- --- --- PASS ACSS1 84532 broad.mit.edu 37 20 25003611 25003611 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr20:25003611C>T uc002wub.2 - 5 1803 c.925G>A c.(925-927)GCA>ACA p.A309T ACSS1_uc002wuc.2_Missense_Mutation_p.A309T|ACSS1_uc010gdc.2_Intron|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Missense_Mutation_p.A226T NM_032501 NP_115890 Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 309 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding ovary(1)|skin(1) 2 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) AGGTAGCCTGCCTGGGTATGG 0.637 11 39 --- --- --- --- PASS C20orf186 149954 broad.mit.edu 37 20 31673913 31673913 + Missense_Mutation SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr20:31673913T>A uc010zue.1 + 5 884 c.869T>A c.(868-870)CTG>CAG p.L290Q NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 290 cytoplasm|extracellular region lipid binding 0 TATCCTCGGCTGGTCATTGAG 0.582 92 98 --- --- --- --- PASS CBFA2T2 9139 broad.mit.edu 37 20 32078086 32078086 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr20:32078086C>T uc002wze.1 + 1 159 c.13C>T c.(13-15)CCT>TCT p.P5S CBFA2T2_uc010zug.1_5'UTR NM_001032999 NP_001028171 O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit Error:Variant_position_missing_in_O43439_after_alignment nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1)|skin(1) 2 GGTAGGCGTCCCTGGAGCGGC 0.662 6 5 --- --- --- --- PASS SPINLW1 57119 broad.mit.edu 37 20 44171468 44171468 + Missense_Mutation SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr20:44171468C>G uc002xou.2 - 3 294 c.262G>C c.(262-264)GCT>CCT p.A88P SPINLW1_uc010zxc.1_Missense_Mutation_p.A88P|SPINLW1_uc002xot.2_Missense_Mutation_p.A72P|SPINLW1_uc002xov.1_3'UTR NM_020398 NP_065131 O95925 EPPI_HUMAN serine peptidase inhibitor-like, with Kunitz and 88 BPTI/Kunitz inhibitor. extracellular region serine-type endopeptidase inhibitor activity pancreas(1) 1 Myeloproliferative disorder(115;0.0122) AGAAAATAAGCCAGGCAGGGG 0.428 41 44 --- --- --- --- PASS C20orf165 128497 broad.mit.edu 37 20 44515306 44515306 + Silent SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr20:44515306G>T uc002xqf.2 - 2 543 c.534C>A c.(532-534)ATC>ATA p.I178I NM_080608 NP_542175 Q9BR10 CT165_HUMAN chromosome 20 open reading frame 165 178 integral to membrane 0 Myeloproliferative disorder(115;0.0122) GAGCGGCCCAGATCAGGTCCT 0.642 45 41 --- --- --- --- PASS GNAS 2778 broad.mit.edu 37 20 57415389 57415389 + Silent SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr20:57415389C>T uc002xzt.2 + 1 595 c.228C>T c.(226-228)TTC>TTT p.F76F GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank NM_016592 NP_057676 P63092 GNAS2_HUMAN GNAS complex locus NESP55 76 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CCCAGGTATTCCCTGAGTCCC 0.662 Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 63 64 --- --- --- --- PASS PHACTR3 116154 broad.mit.edu 37 20 58318262 58318262 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr20:58318262G>T uc002yau.2 + 2 686 c.219G>T c.(217-219)AGG>AGT p.R73S PHACTR3_uc002yat.2_Missense_Mutation_p.R70S|PHACTR3_uc010zzw.1_Missense_Mutation_p.R32S|PHACTR3_uc002yav.2_Missense_Mutation_p.R32S|PHACTR3_uc002yaw.2_Missense_Mutation_p.R32S|PHACTR3_uc002yax.2_Missense_Mutation_p.R32S NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 73 nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) CCCTGGGCAGGATCTTCAAAC 0.557 42 35 --- --- --- --- PASS LAMA5 3911 broad.mit.edu 37 20 60884880 60884880 + Missense_Mutation SNP C T T rs77106948 byFrequency TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr20:60884880C>T uc002ycq.2 - 79 10907 c.10840G>A c.(10840-10842)GGG>AGG p.G3614R NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 3614 Laminin G-like 5. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGCACATTCCCGCTTTTCATC 0.672 15 23 --- --- --- --- PASS GRIK1 2897 broad.mit.edu 37 21 31062053 31062053 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr21:31062053C>A uc002yno.1 - 3 1003 c.539G>T c.(538-540)AGC>ATC p.S180I GRIK1_uc002ynn.2_Missense_Mutation_p.S180I|GRIK1_uc011acs.1_Missense_Mutation_p.S180I|GRIK1_uc011act.1_Missense_Mutation_p.S124I|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.2_Missense_Mutation_p.S180I NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 180 Extracellular (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) CATACCTGTGCTGTCTTCATA 0.448 95 227 --- --- --- --- PASS KRTAP13-2 337959 broad.mit.edu 37 21 31744209 31744209 + Missense_Mutation SNP C G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr21:31744209C>G uc002ynz.3 - 1 349 c.323G>C c.(322-324)CGC>CCC p.R108P NM_181621 NP_853652 Q52LG2 KR132_HUMAN keratin associated protein 13-2 108 intermediate filament 0 GCCCAGGGAGCGGCAGCTGCT 0.607 32 34 --- --- --- --- PASS KRTAP10-12 386685 broad.mit.edu 37 21 46117425 46117425 + Silent SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr21:46117425C>A uc002zfw.1 + 1 339 c.309C>A c.(307-309)GCC>GCA p.A103A C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198699 NP_941972 P60413 KR10C_HUMAN keratin associated protein 10-12 103 19 X 5 AA repeats of C-C-X(3). keratin filament 0 GCCAGCAGGCCTGCTGCGTGC 0.647 76 117 --- --- --- --- PASS CECR5 27440 broad.mit.edu 37 22 17619552 17619552 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr22:17619552C>A uc002zmf.2 - 7 851 c.823G>T c.(823-825)GGC>TGC p.G275C CECR5_uc002zmd.2_Missense_Mutation_p.G86C|CECR5_uc002zme.2_Missense_Mutation_p.G67C|CECR5_uc002zmg.2_Intron|CECR5_uc002zmh.2_Missense_Mutation_p.G245C NM_033070 NP_149061 Q9BXW7 CECR5_HUMAN cat eye syndrome chromosome region, candidate 5 275 hydrolase activity 0 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) CCCATCAGGCCCTCGTATCTC 0.602 120 147 --- --- --- --- PASS PI4KA 5297 broad.mit.edu 37 22 21075678 21075678 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr22:21075678C>A uc002zsz.3 - 43 5081 c.4850G>T c.(4849-4851)TGG>TTG p.W1617L PI4KA_uc010gsp.2_Missense_Mutation_p.W10L|PI4KA_uc002zsy.3_Missense_Mutation_p.W427L NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 1617 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1) 4 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) AGACGCTGCCCACAGAATATA 0.537 55 73 --- --- --- --- PASS PI4KA 5297 broad.mit.edu 37 22 21096529 21096529 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr22:21096529C>A uc002zsz.3 - 32 3785 c.3554G>T c.(3553-3555)GGA>GTA p.G1185V NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 1185 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1) 4 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CACTTCCACTCCATCCTTGCC 0.537 OREG0026324 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 85 75 --- --- --- --- PASS CABIN1 23523 broad.mit.edu 37 22 24487755 24487755 + Silent SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr22:24487755C>A uc002zzi.1 + 24 3871 c.3744C>A c.(3742-3744)ATC>ATA p.I1248I CABIN1_uc002zzj.1_Silent_p.I1198I|CABIN1_uc002zzl.1_Silent_p.I1248I NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1248 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 CCAAGAAGATCCACTACCACA 0.627 48 72 --- --- --- --- PASS MYO18B 84700 broad.mit.edu 37 22 26423607 26423607 + Missense_Mutation SNP A T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr22:26423607A>T uc003abz.1 + 43 7917 c.7667A>T c.(7666-7668)GAT>GTT p.D2556V MYO18B_uc003aca.1_Missense_Mutation_p.D2437V|MYO18B_uc010guy.1_Missense_Mutation_p.D2438V|MYO18B_uc010guz.1_Missense_Mutation_p.D2436V|MYO18B_uc011aka.1_Missense_Mutation_p.D1710V|MYO18B_uc011akb.1_Missense_Mutation_p.D2069V|MYO18B_uc010gva.1_Missense_Mutation_p.D539V|MYO18B_uc010gvb.1_RNA NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2556 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 AAAGACGACGATGTTGCGAGC 0.552 16 9 --- --- --- --- PASS MTMR3 8897 broad.mit.edu 37 22 30398972 30398972 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr22:30398972G>T uc003agv.3 + 9 989 c.661G>T c.(661-663)GTC>TTC p.V221F MTMR3_uc003agu.3_Missense_Mutation_p.V221F|MTMR3_uc003agw.3_Missense_Mutation_p.V221F NM_021090 NP_066576 Q13615 MTMR3_HUMAN myotubularin-related protein 3 isoform c 221 Myotubularin phosphatase. V -> L (in a breast cancer sample; somatic mutation). phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity p.V221L(1) breast(3)|ovary(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) CATCCCTGCCGTCATCTACAG 0.532 21 22 --- --- --- --- PASS LARGE 9215 broad.mit.edu 37 22 34046499 34046499 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr22:34046499C>A uc003and.3 - 4 841 c.262G>T c.(262-264)GGC>TGC p.G88C LARGE_uc003ane.3_Missense_Mutation_p.G88C|LARGE_uc010gwp.2_Missense_Mutation_p.G88C|LARGE_uc011ame.1_Missense_Mutation_p.G20C|LARGE_uc011amf.1_Missense_Mutation_p.G88C NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 88 Lumenal (Potential).|Potential. glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) GGGGCTCGGCCCTGGGCCAGG 0.697 8 68 --- --- --- --- PASS RBM9 23543 broad.mit.edu 37 22 36155936 36155936 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr22:36155936C>A uc003aon.3 - 10 1220 c.1108G>T c.(1108-1110)GGT>TGT p.G370C RBM9_uc003aog.3_Missense_Mutation_p.G276C|RBM9_uc003aol.3_Missense_Mutation_p.G295C|RBM9_uc003aoj.3_Missense_Mutation_p.G299C|RBM9_uc003aok.3_Missense_Mutation_p.G296W|RBM9_uc003aoh.3_Missense_Mutation_p.G299W|RBM9_uc003aom.3_Missense_Mutation_p.G277C|RBM9_uc010gwu.2_Missense_Mutation_p.G275C|RBM9_uc003aoo.3_Missense_Mutation_p.G369C NM_001082578 NP_001076047 O43251 RFOX2_HUMAN RNA binding motif protein 9 isoform 5 309 Ala-rich. estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing cytoplasm|nucleus nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding 0 AACGCTTACCCTGGATAGGCG 0.507 26 44 --- --- --- --- PASS MYH9 4627 broad.mit.edu 37 22 36702581 36702581 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr22:36702581C>T uc003apg.2 - 16 2147 c.1916G>A c.(1915-1917)CGG>CAG p.R639Q MYH9_uc003aph.1_Missense_Mutation_p.R503Q NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 639 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 CATGCCCTTCCGCGTCTTGAA 0.617 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 16 26 --- --- --- --- PASS FAM118A 55007 broad.mit.edu 37 22 45731235 45731235 + Silent SNP T A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr22:45731235T>A uc003bfz.3 + 8 1558 c.942T>A c.(940-942)GCT>GCA p.A314A FAM118A_uc003bga.3_Silent_p.A314A|FAM118A_uc011aqr.1_Silent_p.A132A NM_001104595 NP_001098065 Q9NWS6 F118A_HUMAN hypothetical protein LOC55007 314 integral to membrane 0 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) CTTCAGATGCTGATCGCGTGG 0.517 29 73 --- --- --- --- PASS ATXN10 25814 broad.mit.edu 37 22 46088935 46088935 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr22:46088935T>C uc003bgm.1 + 3 625 c.368T>C c.(367-369)GTG>GCG p.V123A ATXN10_uc011aqt.1_Missense_Mutation_p.V59A|ATXN10_uc003bgn.1_5'UTR NM_013236 NP_037368 Q9UBB4 ATX10_HUMAN ataxin 10 123 cell death|neuron projection development dendrite|neuronal cell body|perinuclear region of cytoplasm ovary(1)|kidney(1) 2 Ovarian(80;0.00973)|all_neural(38;0.0417) UCEC - Uterine corpus endometrioid carcinoma (28;0.0223) GAACTGCGAGTGGAACAGGAA 0.313 4 62 --- --- --- --- PASS BRD1 23774 broad.mit.edu 37 22 50191604 50191604 + Silent SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr22:50191604A>G uc003biv.2 - 5 2434 c.1947T>C c.(1945-1947)TAT>TAC p.Y649Y BRD1_uc011arf.1_Silent_p.Y244Y|BRD1_uc011arg.1_Silent_p.Y698Y|BRD1_uc011arh.1_Silent_p.Y649Y|BRD1_uc003biu.3_Silent_p.Y649Y NM_014577 NP_055392 O95696 BRD1_HUMAN bromodomain containing protein 1 649 Bromo. histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding pancreas(1) 1 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) CCGCGGCTCTATAGAACACGG 0.537 38 26 --- --- --- --- PASS PRKX 5613 broad.mit.edu 37 X 3544547 3544547 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chrX:3544547G>A uc010nde.2 - 5 1095 c.728C>T c.(727-729)CCG>CTG p.P243L NM_005044 NP_005035 P51817 PRKX_HUMAN protein kinase, X-linked 243 Protein kinase. ATP binding|cAMP-dependent protein kinase activity skin(2)|lung(1) 3 all_lung(23;0.000396)|Lung NSC(23;0.00123) ATCAAAAAACGGAGGAAACCT 0.373 28 8 --- --- --- --- PASS NLGN4X 57502 broad.mit.edu 37 X 5811062 5811062 + Silent SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chrX:5811062G>A uc010ndh.2 - 6 2748 c.2247C>T c.(2245-2247)CAC>CAT p.H749H NLGN4X_uc004crp.2_Silent_p.H769H|NLGN4X_uc004crq.2_Silent_p.H749H|NLGN4X_uc010ndi.2_Silent_p.H786H|NLGN4X_uc004crr.2_Silent_p.H749H|NLGN4X_uc010ndj.2_Silent_p.H749H NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 749 Cytoplasmic (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 TCAGTGTGTCGTGTGCCTGCA 0.547 14 51 --- --- --- --- PASS PPEF1 5475 broad.mit.edu 37 X 18845392 18845392 + Splice_Site SNP A T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chrX:18845392A>T uc004cyq.2 + 19 2232 c.1751_splice c.e19-2 p.G584_splice PPEF1_uc004cyp.2_Splice_Site_p.G556_splice|PPEF1_uc004cyr.2_Splice_Site_p.G522_splice|PPEF1_uc004cys.2_Splice_Site_p.G584_splice|PPEF1_uc011mja.1_Splice_Site_p.G519_splice|PPEF1_uc011mjb.1_Splice_Site_p.G528_splice NM_006240 NP_006231 O14829 PPE1_HUMAN protein phosphatase with EF hand calcium-binding detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity 0 Hepatocellular(33;0.183) ATATTCTTTTAGGCCTGATCT 0.418 38 18 --- --- --- --- PASS IL1RAPL1 11141 broad.mit.edu 37 X 29301304 29301304 + Missense_Mutation SNP A C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chrX:29301304A>C uc004dby.2 + 3 840 c.332A>C c.(331-333)CAG>CCG p.Q111P NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 111 Ig-like C2-type 1.|Extracellular (Potential). innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 ACATTGCTACAGGACAGTGGT 0.438 27 26 --- --- --- --- PASS WAS 7454 broad.mit.edu 37 X 48542368 48542368 + Silent SNP A G G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chrX:48542368A>G uc004dkm.3 + 1 183 c.126A>G c.(124-126)AAA>AAG p.K42K NM_000377 NP_000368 P42768 WASP_HUMAN Wiskott-Aldrich syndrome protein 42 WH1. blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity ovary(1) 1 all_lung(315;1.27e-10) TTGGACGAAAATGCTTGGTGA 0.473 Mis|N|F|S lymphoma Wiskott-Aldrich_syndrome 43 26 --- --- --- --- PASS GAGE10 643832 broad.mit.edu 37 X 49161385 49161385 + Missense_Mutation SNP A T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chrX:49161385A>T uc010nir.1 + 2 163 c.47A>T c.(46-48)TAT>TTT p.Y16F NM_001098413 NP_001091883 A6NGK3 GAG10_HUMAN G antigen 10 16 0 Ovarian(276;0.236) CCAAGACTCTATGTAGAGCCC 0.433 146 70 --- --- --- --- PASS FAAH2 158584 broad.mit.edu 37 X 57313335 57313335 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chrX:57313335G>T uc004dvc.2 + 1 226 c.77G>T c.(76-78)CGA>CTA p.R26L NM_174912 NP_777572 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 26 Helical; (Potential). integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity ovary(3) 3 TTAGTAGGCCGAGCAGCTTTA 0.572 HNSCC(52;0.14) 9 12 --- --- --- --- PASS ZC4H2 55906 broad.mit.edu 37 X 64137693 64137693 + Silent SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chrX:64137693G>T uc004dvu.2 - 5 733 c.645C>A c.(643-645)CCC>CCA p.P215P ZC4H2_uc004dvv.2_Silent_p.P192P|ZC4H2_uc011mov.1_Silent_p.P192P|ZC4H2_uc011mow.1_Missense_Mutation_p.P161Q|ZC4H2_uc004dvw.1_3'UTR NM_018684 NP_061154 Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 215 metal ion binding|protein binding ovary(1) 1 TCGGCTTTTTGGGGTTCCGGG 0.502 19 9 --- --- --- --- PASS NHSL2 340527 broad.mit.edu 37 X 71359733 71359733 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chrX:71359733C>T uc011mqa.1 + 6 2335 c.2335C>T c.(2335-2337)CCC>TCC p.P779S NHSL2_uc004eak.1_Missense_Mutation_p.P413S|NHSL2_uc010nli.2_Missense_Mutation_p.P548S NM_001013627 NP_001013649 Q5HYW2 NHSL2_HUMAN NHS-like 2 779 0 Renal(35;0.156) GACCTCTTCACCCAACCTGGA 0.507 27 20 --- --- --- --- PASS POF1B 79983 broad.mit.edu 37 X 84563147 84563147 + Missense_Mutation SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chrX:84563147G>A uc004eer.2 - 10 1179 c.1033C>T c.(1033-1035)CTT>TTT p.L345F POF1B_uc004ees.2_Missense_Mutation_p.L345F NM_024921 NP_079197 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 345 Potential. actin binding 0 TCATTTTGAAGATGTCCAAGC 0.368 25 11 --- --- --- --- PASS PCDH19 57526 broad.mit.edu 37 X 99661673 99661673 + Silent SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chrX:99661673G>A uc010nmz.2 - 1 3599 c.1923C>T c.(1921-1923)ATC>ATT p.I641I PCDH19_uc004efw.3_Silent_p.I641I|PCDH19_uc004efx.3_Silent_p.I641I NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 641 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 GAGCCACCACGATAAGCTCAT 0.572 20 13 --- --- --- --- PASS GPRASP1 9737 broad.mit.edu 37 X 101909538 101909538 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chrX:101909538G>T uc004ejj.3 + 5 1498 c.697G>T c.(697-699)GCT>TCT p.A233S GPRASP1_uc004eji.3_Missense_Mutation_p.A233S|GPRASP1_uc010nod.2_Missense_Mutation_p.A233S NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 233 cytoplasm protein binding ovary(1)|lung(1) 2 CAATCAAGAGGCTAATACCAT 0.463 107 62 --- --- --- --- PASS SERPINA7 6906 broad.mit.edu 37 X 105279351 105279351 + Silent SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chrX:105279351T>C uc004eme.1 - 2 664 c.648A>G c.(646-648)CCA>CCG p.P216P SERPINA7_uc010npd.2_Silent_p.P216P|SERPINA7_uc010npe.1_Silent_p.P216P NM_000354 NP_000345 P05543 THBG_HUMAN serine (or cysteine) proteinase inhibitor, clade 216 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity 0 Levothyroxine(DB00451)|Liothyronine(DB00279) CTGTCTTGGATGGATCAAAAG 0.403 60 39 --- --- --- --- PASS DOCK11 139818 broad.mit.edu 37 X 117700047 117700047 + Missense_Mutation SNP A T T rs150521474 byFrequency TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chrX:117700047A>T uc004eqp.2 + 8 836 c.773A>T c.(772-774)CAG>CTG p.Q258L DOCK11_uc004eqq.2_Missense_Mutation_p.Q24L NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 258 PH. blood coagulation cytosol GTP binding ovary(3) 3 GAAACTGAGCAGGAAATGGAG 0.398 90 45 --- --- --- --- PASS OCRL 4952 broad.mit.edu 37 X 128709967 128709967 + Missense_Mutation SNP C T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chrX:128709967C>T uc004euq.2 + 17 1972 c.1807C>T c.(1807-1809)CCT>TCT p.P603S OCRL_uc004eur.2_Missense_Mutation_p.P603S NM_000276 NP_000267 Q01968 OCRL_HUMAN phosphatidylinositol polyphosphate 5-phosphatase 603 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding lung(2)|ovary(1)|kidney(1) 4 TTCTTTCATCCCTAAACTTAA 0.453 62 31 --- --- --- --- PASS GPR112 139378 broad.mit.edu 37 X 135429395 135429395 + Missense_Mutation SNP T C C TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chrX:135429395T>C uc004ezu.1 + 6 3821 c.3530T>C c.(3529-3531)GTA>GCA p.V1177A GPR112_uc010nsb.1_Missense_Mutation_p.V972A|GPR112_uc010nsc.1_Missense_Mutation_p.V944A NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1177 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) ATATCTCAAGTAGAGGAGACT 0.493 98 36 --- --- --- --- PASS MAGEC3 139081 broad.mit.edu 37 X 140967084 140967084 + Missense_Mutation SNP G T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chrX:140967084G>T uc011mwp.1 + 3 382 c.382G>T c.(382-384)GAC>TAC p.D128Y NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 128 skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GGAACCCCAGGACTGGCCACT 0.547 5 9 --- --- --- --- PASS MAGEC1 9947 broad.mit.edu 37 X 140994995 140994995 + Missense_Mutation SNP G T T rs111723844 TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chrX:140994995G>T uc004fbt.2 + 4 2091 c.1805G>T c.(1804-1806)GGG>GTG p.G602V MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 602 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CCTCCTCAGGGGGAGGACTCC 0.587 HNSCC(15;0.026) 185 116 --- --- --- --- PASS MIR514-1 574516 broad.mit.edu 37 X 146360842 146360842 + RNA SNP G A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chrX:146360842G>A hsa-mir-514-1|MI0003198 - c.21G>A 0 CTCCAGAGTAGGGTACCACAG 0.438 11 6 --- --- --- --- PASS PNCK 139728 broad.mit.edu 37 X 152936760 152936760 + Silent SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chrX:152936760C>A uc011myu.1 - 7 1029 c.843G>T c.(841-843)CTG>CTT p.L281L PNCK_uc011myt.1_Silent_p.L215L|PNCK_uc004fia.2_Silent_p.L233L|PNCK_uc004fhz.3_Silent_p.L96L|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_3'UTR|PNCK_uc011myw.1_3'UTR NM_001039582 NP_001034671 Q6P2M8 KCC1B_HUMAN pregnancy upregulated non-ubiquitously expressed 198 Protein kinase. cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGATGACGCCCAGGGCCCACA 0.632 37 10 --- --- --- --- PASS IRAK1 3654 broad.mit.edu 37 X 153279680 153279680 + Missense_Mutation SNP C A A TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chrX:153279680C>A uc004fjs.1 - 11 1431 c.1352G>T c.(1351-1353)AGC>ATC p.S451I IRAK1_uc004fjr.1_Missense_Mutation_p.S451I|IRAK1_uc004fjt.1_Intron|IRAK1_uc010nur.2_Intron|IRAK1_uc004fju.2_Missense_Mutation_p.S477I NM_001569 NP_001560 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 451 Protein kinase. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|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|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity lung(5)|ovary(2)|breast(1)|central_nervous_system(1) 9 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCTCTGGGTGCTTCTCAAAGC 0.597 81 42 --- --- --- --- PASS CSRNP3 80034 broad.mit.edu 37 2 166532979 166532980 + Frame_Shift_Ins INS - T T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr2:166532979_166532980insT uc002udf.2 + 6 942_943 c.566_567insT c.(565-567)TCTfs p.S189fs CSRNP3_uc002udg.2_Frame_Shift_Ins_p.S189fs NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 189 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 CTGCGTGCCTCTGGAGTGAAAA 0.490 101 134 --- --- --- --- SGK223 157285 broad.mit.edu 37 8 8175875 8175875 + Frame_Shift_Del DEL C - - TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr8:8175875delC uc003wsh.3 - 5 4010 c.4010delG c.(4009-4011)GGCfs p.G1337fs NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 1337 ATP binding|non-membrane spanning protein tyrosine kinase activity 0 CTCCGAGGTGCCCGGCTGCTG 0.672 144 73 --- --- --- --- MOS 4342 broad.mit.edu 37 8 57025797 57025797 + Frame_Shift_Del DEL C - - TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr8:57025797delC uc011leb.1 - 1 745 c.745delG c.(745-747)GAGfs p.E249fs NM_005372 NP_005363 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene 249 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|ovary(1)|central_nervous_system(1) 4 Epithelial(17;0.00117)|all cancers(17;0.00879) TTCAGGAGCTCCGGGGCGCGG 0.537 72 43 --- --- --- --- HSDL2 84263 broad.mit.edu 37 9 115200823 115200823 + Frame_Shift_Del DEL T - - TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr9:115200823delT uc004bga.1 + 7 804 c.711delT c.(709-711)AGTfs p.S237fs HSDL2_uc011lwv.1_Frame_Shift_Del_p.S116fs|HSDL2_uc004bgb.1_Frame_Shift_Del_p.N71fs|HSDL2_uc004bgc.1_Frame_Shift_Del_p.S164fs|HSDL2_uc011lww.1_Frame_Shift_Del_p.S32fs NM_032303 NP_115679 Q6YN16 HSDL2_HUMAN hydroxysteroid dehydrogenase like 2 237 peroxisome oxidoreductase activity|sterol binding 0 AGCCAAAAAGTTTTACTGGCA 0.343 58 78 --- --- --- --- CACNB2 783 broad.mit.edu 37 10 18690925 18690925 + Frame_Shift_Del DEL C - - TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr10:18690925delC uc001ipr.2 + 3 346 c.286delC c.(286-288)CGCfs p.R96fs CACNB2_uc009xjz.1_Frame_Shift_Del_p.R96fs|CACNB2_uc001ips.2_Frame_Shift_Del_p.R96fs|CACNB2_uc001ipt.2_Frame_Shift_Del_p.R96fs|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Frame_Shift_Del_p.R68fs|CACNB2_uc001ipv.2_Frame_Shift_Del_p.R68fs|CACNB2_uc009xka.1_Frame_Shift_Del_p.R68fs|CACNB2_uc001ipw.2_Frame_Shift_Del_p.R41fs|CACNB2_uc001ipx.2_Frame_Shift_Del_p.R41fs|CACNB2_uc009xkb.1_Frame_Shift_Del_p.R42fs|CACNB2_uc010qcm.1_Frame_Shift_Del_p.R42fs|CACNB2_uc001ipz.2_Frame_Shift_Del_p.R42fs|CACNB2_uc001ipy.2_Frame_Shift_Del_p.R42fs|CACNB2_uc010qcn.1_Frame_Shift_Del_p.R48fs|CACNB2_uc010qco.1_Frame_Shift_Del_p.R48fs|CACNB2_uc001iqa.2_Frame_Shift_Del_p.R48fs NM_201596 NP_963890 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 96 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity large_intestine(1)|central_nervous_system(1)|skin(1) 3 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GGAGGCAGTGCGCAGAGAAGC 0.532 28 30 --- --- --- --- TJP1 7082 broad.mit.edu 37 15 30000937 30000937 + Frame_Shift_Del DEL T - - TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:30000937delT uc001zcr.2 - 25 5151 c.4676delA c.(4675-4677)CATfs p.H1559fs TJP1_uc010azl.2_Frame_Shift_Del_p.H1547fs|TJP1_uc001zcq.2_Frame_Shift_Del_p.H1483fs|TJP1_uc001zcs.2_Frame_Shift_Del_p.H1479fs NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 1559 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) GTCAGGTTTATGTGCAGTTTC 0.418 227 105 --- --- --- --- TMC3 342125 broad.mit.edu 37 15 81627216 81627216 + Frame_Shift_Del DEL G - - TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chr15:81627216delG uc002bgo.1 - 21 2304 c.2304delC c.(2302-2304)AACfs p.N768fs TMC3_uc010blr.1_RNA NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 768 Cytoplasmic (Potential). integral to membrane ovary(1)|liver(1) 2 CCACGTTGCCGTTGTTTTGGG 0.592 97 45 --- --- --- --- MAGEB4 4115 broad.mit.edu 37 X 30261139 30261139 + Frame_Shift_Del DEL C - - TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx fb901997-6e46-436f-ad34-74aadc344245 e6b22358-9fe1-4637-b84f-828bacd3320d g.chrX:30261139delC uc004dcb.2 + 1 971 c.887delC c.(886-888)ACCfs p.T296fs MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank NM_002367 NP_002358 O15481 MAGB4_HUMAN melanoma antigen family B, 4 296 MAGE. ovary(1) 1 AATGACACCACCCCCAATAAC 0.532 29 38 --- --- --- ---