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 RNF207 388591 broad.mit.edu 37 1 6272365 6272365 + Silent SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:6272365G>T uc001amg.2 + 14 1545 c.1371G>T c.(1369-1371)TCG>TCT p.S457S RNF207_uc010nzp.1_RNA NM_207396 NP_997279 Q6ZRF8 RN207_HUMAN ring finger protein 207 457 Potential. intracellular zinc ion binding 0 Ovarian(185;0.0634) all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) AGCACCACTCGCTCATCAAGG 0.607 11 59 --- --- --- --- PASS C1orf200 644997 broad.mit.edu 37 1 9714484 9714484 + Missense_Mutation SNP T A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:9714484T>A uc001aqc.3 - 1 161 c.11A>T c.(10-12)CAG>CTG p.Q4L PIK3CD_uc001aqa.2_Intron|PIK3CD_uc001aqb.3_Intron NR_027045 RecName: Full=Putative uncharacterized protein C1orf200; 0 all_lung(157;0.222) Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419) GCAGGCAGACTGGGAGGGCAT 0.572 11 63 --- --- --- --- PASS CLCNKB 1188 broad.mit.edu 37 1 16375649 16375649 + Missense_Mutation SNP C G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:16375649C>G uc001axw.3 + 8 770 c.690C>G c.(688-690)CAC>CAG p.H230Q FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.H230Q|CLCNKB_uc001axy.3_Missense_Mutation_p.H61Q NM_000085 NP_000076 P51801 CLCKB_HUMAN chloride channel Kb isoform 1 230 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity skin(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) TGTCTTCCCACTTCTCTGTCT 0.637 14 133 --- --- --- --- PASS HSPG2 3339 broad.mit.edu 37 1 22175404 22175404 + Missense_Mutation SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:22175404G>A uc001bfj.2 - 58 7607 c.7567C>T c.(7567-7569)CGC>TGC p.R2523C HSPG2_uc009vqd.2_Missense_Mutation_p.R2524C NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 2523 Ig-like C2-type 10. 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) CCACTAAGGCGCTGCTGGATG 0.632 16 112 --- --- --- --- PASS HSPG2 3339 broad.mit.edu 37 1 22181477 22181477 + Splice_Site SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:22181477C>A uc001bfj.2 - 48 6038 c.5998_splice c.e48-1 p.A2000_splice HSPG2_uc009vqd.2_Splice_Site_p.A2001_splice NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 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) CTGACCGGGCCTGCCGTGGGT 0.652 5 49 --- --- --- --- PASS C1QB 713 broad.mit.edu 37 1 22987582 22987582 + Silent SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:22987582C>T uc001bgd.2 + 3 597 c.465C>T c.(463-465)CCC>CCT p.P155P NM_000491 NP_000482 P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 155 C1q. complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ATTATGAGCCCCGCAGTGGCA 0.592 10 89 --- --- --- --- PASS HDAC1 3065 broad.mit.edu 37 1 32796447 32796447 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:32796447G>T uc001bvb.1 + 9 980 c.917G>T c.(916-918)CGT>CTT p.R306L HDAC1_uc010ohf.1_Missense_Mutation_p.R277L|HDAC1_uc001bvc.1_Missense_Mutation_p.R62L NM_004964 NP_004955 Q13547 HDAC1_HUMAN histone deacetylase 1 306 Histone deacetylase. anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytosol|NuRD complex|Sin3 complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|breast(1) 3 Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113) KIRC - Kidney renal clear cell carcinoma(1967;0.138) Vorinostat(DB02546) TACACCATTCGTAACGTTGCC 0.562 14 72 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34180320 34180320 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:34180320C>A uc001bxn.1 - 21 3182 c.3153G>T c.(3151-3153)AAG>AAT p.K1051N CSMD2_uc001bxm.1_Missense_Mutation_p.K1091N NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1051 Sushi 6.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACTGCAAGCCCTTCCGGATGC 0.652 24 62 --- --- --- --- PASS PABPC4 8761 broad.mit.edu 37 1 40031023 40031023 + Missense_Mutation SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:40031023C>T uc010oiv.1 - 8 1898 c.1000G>A c.(1000-1002)GGG>AGG p.G334R PABPC4_uc001cdl.2_Missense_Mutation_p.G334R|PABPC4_uc001cdm.2_Missense_Mutation_p.G334R NM_003819 NP_003810 Q13310 PABP4_HUMAN poly A binding protein, cytoplasmic 4 isoform 2 334 RRM 4. 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) AAGCCAAACCCTTTGCTTCTT 0.393 14 84 --- --- --- --- PASS KDM4A 9682 broad.mit.edu 37 1 44121382 44121382 + Missense_Mutation SNP A G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:44121382A>G uc001cjx.2 + 3 425 c.259A>G c.(259-261)ATA>GTA p.I87V KDM4A_uc010oki.1_Missense_Mutation_p.I87V NM_014663 NP_055478 O75164 KDM4A_HUMAN jumonji domain containing 2A 87 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding skin(1) 1 TCAGTACAACATACAGAAGAA 0.488 10 75 --- --- --- --- PASS ZSWIM5 57643 broad.mit.edu 37 1 45484728 45484728 + Missense_Mutation SNP T C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:45484728T>C uc001cnd.2 - 14 3184 c.2956A>G c.(2956-2958)ATT>GTT p.I986V NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN zinc finger, SWIM domain containing 5 986 zinc ion binding 0 Acute lymphoblastic leukemia(166;0.155) TCAATGGCAATCTGGTAGGCT 0.547 OREG0013450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 129 --- --- --- --- PASS FAAH 2166 broad.mit.edu 37 1 46871137 46871137 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:46871137G>T uc001cpu.2 + 4 620 c.538G>T c.(538-540)GTG>TTG p.V180L FAAH_uc001cpv.2_5'Flank NM_001441 NP_001432 O00519 FAAH1_HUMAN fatty acid amide hydrolase 180 Cytoplasmic (By similarity). fatty acid catabolic process cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(166;0.155) Propofol(DB00818)|Thiopental(DB00599) GCAGGGTGCCGTGCCCTTCGT 0.667 28 128 --- --- --- --- PASS KIAA0494 9813 broad.mit.edu 37 1 47154048 47154048 + Nonsense_Mutation SNP T A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:47154048T>A uc001cqk.3 - 7 1941 c.964A>T c.(964-966)AAA>TAA p.K322* KIAA0494_uc010omh.1_Intron|KIAA0494_uc010omj.1_Intron|KIAA0494_uc001cql.1_Nonsense_Mutation_p.K322* NM_014774 NP_055589 O75071 K0494_HUMAN hypothetical protein LOC9813 322 calcium ion binding 0 Acute lymphoblastic leukemia(166;0.155) AGGTTTGCTTTCTTTTCTACC 0.418 27 107 --- --- --- --- PASS PCSK9 255738 broad.mit.edu 37 1 55509579 55509579 + Missense_Mutation SNP T A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:55509579T>A uc001cyf.1 + 2 562 c.271T>A c.(271-273)TCA>ACA p.S91T PCSK9_uc010ool.1_RNA|PCSK9_uc010oom.1_Intron NM_174936 NP_777596 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 91 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding ovary(2)|central_nervous_system(1)|skin(1) 4 CCTCTCGCAGTCAGAGCGCAC 0.627 9 66 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70144063 70144063 + Splice_Site SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:70144063G>T uc001deo.1 + 2 1458 c.3_splice c.e2-1 p.M1_splice Q96NW7 LRRC7_HUMAN SubName: Full=Leucine rich repeat containing 7; SubName: Full=cDNA FLJ54846, highly similar to Leucine-rich repeat-containing protein 7; centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 CTCTCTTATAGGATGGAGAAC 0.398 3 17 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75086533 75086533 + Silent SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:75086533C>A uc001dgg.2 - 8 1104 c.885G>T c.(883-885)GGG>GGT p.G295G uc001dgh.2_Intron|C1orf173_uc001dgi.3_Silent_p.G89G NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 295 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 GCACATTTTTCCCCAAATAGA 0.363 21 64 --- --- --- --- PASS ELTD1 64123 broad.mit.edu 37 1 79386071 79386071 + Missense_Mutation SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:79386071C>T uc001diq.3 - 10 1414 c.1258G>A c.(1258-1260)GGT>AGT p.G420S NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 420 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TCTTTAATACCCTAAGGGAAA 0.289 5 49 --- --- --- --- PASS GTF2B 2959 broad.mit.edu 37 1 89322940 89322940 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:89322940C>A uc001dmo.3 - 6 885 c.766G>T c.(766-768)GCA>TCA p.A256S NM_001514 NP_001505 Q00403 TF2B_HUMAN general transcription factor IIB 256 2. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding large_intestine(1)|ovary(1) 2 Lung NSC(277;0.123) all cancers(265;0.0131)|Epithelial(280;0.0255) TAAATAGCTGCCGCTGCCACA 0.493 18 103 --- --- --- --- PASS RBMXL1 494115 broad.mit.edu 37 1 89448597 89448597 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:89448597C>A uc009wcx.2 - 3 1629 c.913G>T c.(913-915)GGT>TGT p.G305C CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_Mutation_p.G305C NM_001162536 NP_001156008 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 305 Ser-rich. nucleotide binding|RNA binding 0 CTGCTTCCACCATAAGATGGC 0.473 58 205 --- --- --- --- PASS GBP2 2634 broad.mit.edu 37 1 89583373 89583373 + Missense_Mutation SNP C G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:89583373C>G uc001dmz.1 - 5 783 c.512G>C c.(511-513)AGC>ACC p.S171T GBP2_uc001dmy.1_RNA NM_004120 NP_004111 P32456 GBP2_HUMAN guanylate binding protein 2, 171 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway plasma membrane GTP binding|GTPase activity ovary(1) 1 Lung NSC(277;0.0908) all cancers(265;0.0151)|Epithelial(280;0.0284) TGGAAAAAAGCTCACAAAGTC 0.448 26 72 --- --- --- --- PASS ALX3 257 broad.mit.edu 37 1 110604103 110604103 + Missense_Mutation SNP G T T rs140822231 TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:110604103G>T uc001dzb.2 - 3 765 c.677C>A c.(676-678)GCT>GAT p.A226D NM_006492 NP_006483 O95076 ALX3_HUMAN aristaless-like homeobox 3 226 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135) GTCATAGGCAGCCGTGAAGGG 0.607 21 64 --- --- --- --- PASS OLFML3 56944 broad.mit.edu 37 1 114524239 114524239 + Missense_Mutation SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:114524239C>T uc001eer.1 + 3 1178 c.1069C>T c.(1069-1071)CCT>TCT p.P357S OLFML3_uc001ees.1_Missense_Mutation_p.P337S|OLFML3_uc001eet.1_Missense_Mutation_p.P213S NM_020190 NP_064575 Q9NRN5 OLFL3_HUMAN olfactomedin-like 3 precursor 357 Olfactomedin-like. multicellular organismal development extracellular region 0 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CACCCTGACCCCTGAACGGGC 0.597 17 47 --- --- --- --- PASS FCRL2 79368 broad.mit.edu 37 1 157745576 157745576 + Missense_Mutation SNP G C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:157745576G>C uc001fre.2 - 2 100 c.41C>G c.(40-42)ACT>AGT p.T14S FCRL2_uc010phz.1_Missense_Mutation_p.T14S|FCRL2_uc009wsp.2_Missense_Mutation_p.T14S|FCRL2_uc010pia.1_Missense_Mutation_p.T14S NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 14 cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TGCCTGTTCAGTGACTGCATC 0.433 4 33 --- --- --- --- PASS FCRLA 84824 broad.mit.edu 37 1 161681143 161681143 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:161681143G>T uc001gbe.2 + 4 689 c.447G>T c.(445-447)AGG>AGT p.R149S FCRLA_uc001gbd.2_Missense_Mutation_p.R143S|FCRLA_uc001gbf.2_Intron|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron NM_032738 NP_116127 Q7L513 FCRLA_HUMAN Fc receptor-like and mucin-like 1 126 Ig-like C2-type 1. cell differentiation cytoplasm|extracellular region 0 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) GGCCTAACAGGGAATTCTCCA 0.602 8 55 --- --- --- --- PASS LRRC52 440699 broad.mit.edu 37 1 165514029 165514029 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:165514029G>T uc001gde.2 + 1 552 c.496G>T c.(496-498)GAC>TAC p.D166Y LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron NM_001005214 NP_001005214 Q8N7C0 LRC52_HUMAN leucine rich repeat containing 52 precursor 166 Extracellular (Potential).|LRR 5. integral to membrane ovary(1) 1 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) GCAGACCCTGGACAGTGCTGC 0.517 41 166 --- --- --- --- PASS DUSP27 92235 broad.mit.edu 37 1 167096615 167096615 + Silent SNP G C C rs140729613 byFrequency TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:167096615G>C uc001geb.1 + 5 2247 c.2247G>C c.(2245-2247)CCG>CCC p.P749P NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 749 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 CCCGCTCACCGTCTGTTGCAA 0.537 14 59 --- --- --- --- PASS SELP 6403 broad.mit.edu 37 1 169578860 169578860 + Silent SNP C A A rs138017338 byFrequency TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:169578860C>A uc001ggi.3 - 8 1280 c.1215G>T c.(1213-1215)GCG>GCT p.A405A SELP_uc001ggh.2_Silent_p.A240A|SELP_uc009wvr.2_Silent_p.A405A NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 405 Sushi 4.|Extracellular (Potential). platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CATACTGAAACGCTCTCAAGG 0.498 15 65 --- --- --- --- PASS TNN 63923 broad.mit.edu 37 1 175046707 175046707 + Silent SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:175046707C>A uc001gkl.1 + 2 266 c.153C>A c.(151-153)CCC>CCA p.P51P TNN_uc010pmx.1_Silent_p.P51P NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 51 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) TCGATGTGCCCAAGTCTGCCT 0.617 15 39 --- --- --- --- PASS RGL1 23179 broad.mit.edu 37 1 183816796 183816796 + Missense_Mutation SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:183816796G>A uc001gqo.2 + 3 392 c.235G>A c.(235-237)GAG>AAG p.E79K RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Missense_Mutation_p.E114K|RGL1_uc010pog.1_Missense_Mutation_p.E77K|RGL1_uc010poh.1_Missense_Mutation_p.E77K|RGL1_uc010poi.1_Missense_Mutation_p.E79K NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation 79 N-terminal Ras-GEF. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|ovary(4)|lung(2) 11 GAAGCTTGTGGAGAACCTGCT 0.473 23 138 --- --- --- --- PASS C1orf25 81627 broad.mit.edu 37 1 185109335 185109335 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:185109335C>A uc001grf.3 - 8 1151 c.879G>T c.(877-879)TGG>TGT p.W293C C1orf25_uc010pon.1_Missense_Mutation_p.W137C NM_030934 NP_112196 Q7Z2T5 TRM1L_HUMAN N2,N2-dimethylguanosine tRNA 293 intracellular RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding 0 GATGTTTTGCCCACTGTAATC 0.294 4 53 --- --- --- --- PASS FAM5C 339479 broad.mit.edu 37 1 190234052 190234052 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:190234052G>T uc001gse.1 - 4 793 c.561C>A c.(559-561)GAC>GAA p.D187E FAM5C_uc010pot.1_Missense_Mutation_p.D85E NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 187 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TGCTGTCCCTGTCAATGAAAT 0.453 12 85 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228444413 228444413 + Silent SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:228444413G>A uc009xez.1 + 15 4415 c.4371G>A c.(4369-4371)GGG>GGA p.G1457G OBSCN_uc001hsn.2_Silent_p.G1457G NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1457 Ig-like 15. 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) CCCAGGCGGGGGCCAGCACCA 0.622 5 50 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237754118 237754118 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:237754118G>T uc001hyl.1 + 31 4106 c.3986G>T c.(3985-3987)GGG>GTG p.G1329V NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1329 Cytoplasmic (By similarity).|4 X approximate repeats. 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) GGCCTTTTTGGGCCCAAGAAT 0.517 25 89 --- --- --- --- PASS TFB2M 64216 broad.mit.edu 37 1 246719931 246719931 + Missense_Mutation SNP T C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:246719931T>C uc001ibn.2 - 4 774 c.649A>G c.(649-651)ATA>GTA p.I217V TFB2M_uc010pys.1_RNA NM_022366 NP_071761 Q9H5Q4 TFB2M_HUMAN transcription factor B2, mitochondrial 217 positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter mitochondrial nucleoid protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity ovary(1) 1 all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376) OV - Ovarian serous cystadenocarcinoma(106;0.00358) AATTTATATATAGAAGTACAG 0.328 10 68 --- --- --- --- PASS OR2L8 391190 broad.mit.edu 37 1 248112719 248112719 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:248112719C>A uc001idt.1 + 1 560 c.560C>A c.(559-561)GCC>GAC p.A187D OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 187 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) GTGACTCTGGCCTGCATGGAC 0.468 5 67 --- --- --- --- PASS OR2L3 391192 broad.mit.edu 37 1 248224543 248224543 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:248224543C>A uc001idx.1 + 1 560 c.560C>A c.(559-561)GCC>GAC p.A187D OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 187 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GTGACTCTGGCCTGCATGGAC 0.468 4 97 --- --- --- --- PASS OR2T1 26696 broad.mit.edu 37 1 248569946 248569946 + Silent SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr1:248569946C>T uc010pzm.1 + 1 651 c.651C>T c.(649-651)CCC>CCT p.P217P NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 217 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(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) TGAGCTTTCCCTTCTGCAATT 0.532 6 70 --- --- --- --- PASS XDH 7498 broad.mit.edu 37 2 31598392 31598392 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr2:31598392C>A uc002rnv.1 - 15 1535 c.1456G>T c.(1456-1458)GTG>TTG p.V486L NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 486 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CCTGCACACACGTCCTGCAGC 0.637 14 42 --- --- --- --- PASS LTBP1 4052 broad.mit.edu 37 2 33568004 33568004 + Missense_Mutation SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr2:33568004C>T uc002ros.2 + 25 3833 c.3833C>T c.(3832-3834)GCC>GTC p.A1278V LTBP1_uc002rot.2_Missense_Mutation_p.A952V|LTBP1_uc002rou.2_Missense_Mutation_p.A951V|LTBP1_uc002rov.2_Missense_Mutation_p.A898V|LTBP1_uc010ymz.1_Intron|LTBP1_uc010yna.1_Intron|LTBP1_uc010ynb.1_Intron NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1277 EGF-like 13; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GGCTTTCAAGCCCCACAGGAT 0.463 7 66 --- --- --- --- PASS ETAA1 54465 broad.mit.edu 37 2 67632417 67632417 + Missense_Mutation SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr2:67632417G>A uc002sdz.1 + 5 2742 c.2603G>A c.(2602-2604)GGA>GAA p.G868E NM_019002 NP_061875 Q9NY74 ETAA1_HUMAN ETAA16 protein 868 cytoplasm|nucleus ovary(3)|large_intestine(1) 4 GAAGCTGTTGGACAGCAATCT 0.323 3 48 --- --- --- --- PASS HTRA2 27429 broad.mit.edu 37 2 74757145 74757145 + Silent SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr2:74757145G>A uc002smi.1 + 1 614 c.12G>A c.(10-12)CCG>CCA p.P4P AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Silent_p.P4P|HTRA2_uc002smk.1_Silent_p.P4P|HTRA2_uc002sml.1_Silent_p.P4P|HTRA2_uc002smm.1_Intron|HTRA2_uc002smn.1_Intron|HTRA2_uc010ffl.2_5'Flank NM_013247 NP_037379 O43464 HTRA2_HUMAN HtrA serine peptidase 2 isoform 1 preproprotein 4 apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding ovary(1) 1 TGGCTGCGCCGAGGGCGGGGC 0.741 12 71 --- --- --- --- PASS REG1A 5967 broad.mit.edu 37 2 79348720 79348720 + Missense_Mutation SNP C G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr2:79348720C>G uc002snz.2 + 3 200 c.97C>G c.(97-99)CGG>GGG p.R33G REG1A_uc010ffx.1_Missense_Mutation_p.R33G|REG1A_uc010ysd.1_Missense_Mutation_p.R33G NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 33 positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 GCCCCAGGCCCGGATCAGCTG 0.522 36 294 --- --- --- --- PASS SMYD1 150572 broad.mit.edu 37 2 88367421 88367421 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr2:88367421C>A uc002ssr.2 + 1 40 c.38C>A c.(37-39)ACC>AAC p.T13N SMYD1_uc002ssq.1_Missense_Mutation_p.T8N NM_198274 NP_938015 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 13 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(2)|lung(1)|skin(1) 4 GAGGTCTTCACCGCTGAGGGC 0.522 37 221 --- --- --- --- PASS SMYD1 150572 broad.mit.edu 37 2 88396283 88396283 + Missense_Mutation SNP G C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr2:88396283G>C uc002ssr.2 + 6 870 c.868G>C c.(868-870)GGG>CGG p.G290R SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_5'UTR NM_198274 NP_938015 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 290 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(2)|lung(1)|skin(1) 4 CCTCTTCCTGGGGGTGAAAGA 0.507 15 68 --- --- --- --- PASS SMYD1 150572 broad.mit.edu 37 2 88402583 88402583 + Missense_Mutation SNP C G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr2:88402583C>G uc002ssr.2 + 7 897 c.895C>G c.(895-897)CAG>GAG p.Q299E SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_5'UTR NM_198274 NP_938015 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(2)|lung(1)|skin(1) 4 CCAGCCCTCTCAGGAAGTGGT 0.413 11 67 --- --- --- --- PASS ST6GAL2 84620 broad.mit.edu 37 2 107423361 107423361 + Missense_Mutation SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr2:107423361C>T uc002tdq.2 - 6 1482 c.1363G>A c.(1363-1365)GAA>AAA p.E455K ST6GAL2_uc002tdr.2_Missense_Mutation_p.E455K NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 455 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 GGGATATATTCATACACGTGC 0.502 4 27 --- --- --- --- PASS GLI2 2736 broad.mit.edu 37 2 121685040 121685040 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr2:121685040C>A uc010flp.2 + 2 282 c.252C>A c.(250-252)CAC>CAA p.H84Q GLI2_uc010yyu.1_Missense_Mutation_p.H84Q|GLI2_uc002tmp.1_Missense_Mutation_p.H84Q|GLI2_uc010fln.1_RNA|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Missense_Mutation_p.H84Q|GLI2_uc010flo.1_Intron|GLI2_uc002tmw.1_Missense_Mutation_p.H84Q NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 84 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) ACGGTGTGCACGGGTAAGTCC 0.612 64 98 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 124783296 124783296 + Missense_Mutation SNP A T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr2:124783296A>T uc002tno.2 + 1 433 c.69A>T c.(67-69)TTA>TTT p.L23F CNTNAP5_uc010flu.2_Missense_Mutation_p.L23F NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 23 cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) ATTTAGGATTAACAGCGACAA 0.502 20 74 --- --- --- --- PASS NCKAP5 344148 broad.mit.edu 37 2 133539769 133539769 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr2:133539769C>A uc002ttp.2 - 14 4989 c.4615G>T c.(4615-4617)GTC>TTC p.V1539F NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1539 protein binding 0 AACCCCAAGACTTTTGCATCT 0.393 52 142 --- --- --- --- PASS NCKAP5 344148 broad.mit.edu 37 2 133636486 133636486 + Nonsense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr2:133636486C>A uc002ttp.2 - 9 957 c.583G>T c.(583-585)GAG>TAG p.E195* NCKAP5_uc002ttq.2_Nonsense_Mutation_p.E195* NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 195 Potential. protein binding 0 GCTGAATTCTCTGCCTGCAGT 0.388 16 68 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141359163 141359163 + Missense_Mutation SNP G C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr2:141359163G>C uc002tvj.1 - 42 7817 c.6845C>G c.(6844-6846)ACA>AGA p.T2282R NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2282 Extracellular (Potential).|LDL-receptor class B 24. 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) CCAGTACAGTGTATCCCAGGC 0.448 TSP Lung(27;0.18) 12 44 --- --- --- --- PASS SLC4A10 57282 broad.mit.edu 37 2 162760661 162760661 + Silent SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr2:162760661G>T uc002ubx.3 + 13 1774 c.1590G>T c.(1588-1590)CTG>CTT p.L530L SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Silent_p.L500L|SLC4A10_uc010zcs.1_Silent_p.L511L NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 530 Helical; (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 TTGGAGGACTGCTGGGAGAAG 0.408 7 18 --- --- --- --- PASS COL3A1 1281 broad.mit.edu 37 2 189868786 189868786 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr2:189868786C>A uc002uqj.1 + 39 2857 c.2740C>A c.(2740-2742)CCT>ACT p.P914T NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 914 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CACTGGTGCTCCTGGCAGCCC 0.567 4 40 --- --- --- --- PASS SATB2 23314 broad.mit.edu 37 2 200298194 200298194 + Silent SNP G C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr2:200298194G>C uc002uuy.1 - 3 1030 c.213C>G c.(211-213)GGC>GGG p.G71G SATB2_uc010fsq.1_Silent_p.G71G|SATB2_uc002uuz.1_Silent_p.G71G|SATB2_uc002uva.1_Silent_p.G71G NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 71 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 ATTCAAGAGAGCCGTCCAACT 0.473 23 118 --- --- --- --- PASS HDAC4 9759 broad.mit.edu 37 2 240029801 240029801 + Missense_Mutation SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr2:240029801C>T uc002vyk.3 - 15 2834 c.2042G>A c.(2041-2043)AGG>AAG p.R681K HDAC4_uc010fyz.1_Missense_Mutation_p.R676K|HDAC4_uc010zoa.1_Missense_Mutation_p.R681K|HDAC4_uc010fza.2_Missense_Mutation_p.R686K|HDAC4_uc010fyy.2_Missense_Mutation_p.R638K|HDAC4_uc010znz.1_Missense_Mutation_p.R564K NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 681 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) GCTCTGGATCCTCCCGGCGTG 0.692 6 27 --- --- --- --- PASS CNTN6 27255 broad.mit.edu 37 3 1414067 1414067 + Missense_Mutation SNP A T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr3:1414067A>T uc003boz.2 + 13 1844 c.1577A>T c.(1576-1578)GAC>GTC p.D526V CNTN6_uc011asj.1_Missense_Mutation_p.D454V|CNTN6_uc003bpa.2_Missense_Mutation_p.D526V NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 526 Ig-like C2-type 6. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GTGTCCCATGACCCCTCCATT 0.413 10 55 --- --- --- --- PASS ATP2B2 491 broad.mit.edu 37 3 10370598 10370598 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr3:10370598C>A uc003bvt.2 - 23 4071 c.3632G>T c.(3631-3633)AGC>ATC p.S1211I ATP2B2_uc003bvv.2_Missense_Mutation_p.S1166I|ATP2B2_uc003bvw.2_Missense_Mutation_p.S1166I|ATP2B2_uc003bvs.2_RNA|ATP2B2_uc010hdo.2_Missense_Mutation_p.S916I|hsa-mir-378b|MI0014154_5'Flank NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 1211 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 GTCGATGGCGCTGTTGTTCTT 0.577 15 48 --- --- --- --- PASS HRH1 3269 broad.mit.edu 37 3 11300949 11300949 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr3:11300949G>T uc010hdr.2 + 2 568 c.226G>T c.(226-228)GTG>TTG p.V76L HRH1_uc010hds.2_Missense_Mutation_p.V76L|HRH1_uc010hdt.2_Missense_Mutation_p.V76L|HRH1_uc003bwb.3_Missense_Mutation_p.V76L NM_001098213 NP_001091683 P35367 HRH1_HUMAN histamine receptor H1 76 Helical; Name=2; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity large_intestine(1)|ovary(1) 2 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) GGACTTGATCGTGGGTGCCGT 0.572 26 68 --- --- --- --- PASS OXSM 54995 broad.mit.edu 37 3 25832949 25832949 + Silent SNP T A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr3:25832949T>A uc003cdn.2 + 2 545 c.438T>A c.(436-438)ACT>ACA p.T146T NGLY1_uc011awo.1_5'Flank|OXSM_uc011awp.1_Intron|OXSM_uc010hfh.2_Silent_p.T146T NM_017897 NP_060367 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial isoform 1 146 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity ovary(1)|breast(1) 2 AAGTGGCTACTGGTGTTGCAA 0.438 34 87 --- --- --- --- PASS OXSM 54995 broad.mit.edu 37 3 25832953 25832953 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr3:25832953G>T uc003cdn.2 + 2 549 c.442G>T c.(442-444)GTT>TTT p.V148F NGLY1_uc011awo.1_5'Flank|OXSM_uc011awp.1_Intron|OXSM_uc010hfh.2_Missense_Mutation_p.V148F NM_017897 NP_060367 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial isoform 1 148 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity ovary(1)|breast(1) 2 GGCTACTGGTGTTGCAATTGG 0.443 36 85 --- --- --- --- PASS ERC2 26059 broad.mit.edu 37 3 55922476 55922476 + Silent SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr3:55922476C>A uc003dhr.1 - 14 2761 c.2505G>T c.(2503-2505)GCG>GCT p.A835A ERC2_uc003dhq.1_RNA|ERC2_uc003dht.1_Silent_p.A314A NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 835 Potential. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TGGCCAAGTGCGCTTCTTTTT 0.537 42 140 --- --- --- --- PASS GPR15 2838 broad.mit.edu 37 3 98251656 98251656 + Missense_Mutation SNP T G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr3:98251656T>G uc011bgy.1 + 1 779 c.779T>G c.(778-780)TTC>TGC p.F260C NM_005290 NP_005281 P49685 GPR15_HUMAN G protein-coupled receptor 15 260 Helical; Name=6; (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) TTCAATACTTTCAAGTTCCTG 0.458 35 64 --- --- --- --- PASS ZBTB20 26137 broad.mit.edu 37 3 114070443 114070443 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr3:114070443C>A uc003ebi.2 - 4 662 c.482G>T c.(481-483)GGC>GTC p.G161V ZBTB20_uc003ebj.2_Missense_Mutation_p.G88V|ZBTB20_uc010hqp.2_Missense_Mutation_p.G88V|ZBTB20_uc003ebk.2_Missense_Mutation_p.G88V|ZBTB20_uc003ebl.2_Missense_Mutation_p.G88V|ZBTB20_uc003ebm.2_Missense_Mutation_p.G88V|ZBTB20_uc003ebn.2_Missense_Mutation_p.G88V|uc003ebo.1_5'Flank NM_015642 NP_056457 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 isoform 161 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) CCGTAGCACGCCGCTGTACAT 0.562 42 35 --- --- --- --- PASS IGSF11 152404 broad.mit.edu 37 3 118647366 118647366 + Silent SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr3:118647366G>A uc003ebw.2 - 3 661 c.414C>T c.(412-414)CTC>CTT p.L138L IGSF11_uc011biv.1_Silent_p.L138L|IGSF11_uc003ebx.2_Silent_p.L138L|IGSF11_uc003eby.2_Silent_p.L137L|IGSF11_uc003ebz.2_Silent_p.L137L|IGSF11_uc010hqs.2_Silent_p.L137L NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 138 Extracellular (Potential). cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 CTAACACTGTGAGACCGGTGA 0.493 9 72 --- --- --- --- PASS EPHB1 2047 broad.mit.edu 37 3 134670256 134670256 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr3:134670256G>T uc003eqt.2 + 3 387 c.167G>T c.(166-168)CGC>CTC p.R56L EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Missense_Mutation_p.R56L NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 56 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity|protein binding p.R56P(1) lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 AACACCATCCGCACCTACCAG 0.517 14 16 --- --- --- --- PASS GK5 256356 broad.mit.edu 37 3 141917686 141917686 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr3:141917686C>A uc003euq.1 - 5 632 c.501G>T c.(499-501)CAG>CAT p.Q167H GK5_uc010hus.1_RNA|GK5_uc010hut.1_RNA NM_001039547 NP_001034636 Q6ZS86 GLPK5_HUMAN glycerol kinase 5 (putative) 167 glycerol metabolic process ATP binding|glycerol kinase activity 0 TCAAAGAAGTCTGCTGGGTTG 0.353 6 74 --- --- --- --- PASS FAM194A 131831 broad.mit.edu 37 3 150377748 150377748 + Silent SNP A C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr3:150377748A>C uc003eyg.2 - 14 1980 c.1923T>G c.(1921-1923)CTT>CTG p.L641L FAM194A_uc003eyh.2_Silent_p.L495L NM_152394 NP_689607 Q7L0X2 F194A_HUMAN hypothetical protein LOC131831 641 skin(2)|ovary(1) 3 AACTGTGACAAAGGGCAATTA 0.313 56 82 --- --- --- --- PASS AADAC 13 broad.mit.edu 37 3 151535239 151535239 + Missense_Mutation SNP C T T rs150521396 TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr3:151535239C>T uc003eze.2 + 2 314 c.224C>T c.(223-225)TCA>TTA p.S75L NM_001086 NP_001077 P22760 AAAD_HUMAN arylacetamide deacetylase 75 Lumenal (Potential). positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity skin(2) 2 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) CCACCAACCTCAGATGAAAAT 0.413 18 78 --- --- --- --- PASS ECT2 1894 broad.mit.edu 37 3 172537961 172537961 + Silent SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr3:172537961C>T uc003fii.2 + 24 2724 c.2586C>T c.(2584-2586)GTC>GTT p.V862V ECT2_uc003fih.2_Silent_p.V861V|ECT2_uc003fij.1_Silent_p.V862V|ECT2_uc003fik.1_Silent_p.V862V|ECT2_uc003fil.1_Silent_p.V893V|ECT2_uc003fim.1_3'UTR NM_018098 NP_060568 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 862 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|ovary(1)|skin(1) 4 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) CCTCCCTTGTCAGCCTTCCTT 0.318 17 155 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178928298 178928298 + Missense_Mutation SNP A T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr3:178928298A>T uc003fjk.2 + 9 1641 c.1484A>T c.(1483-1485)CAT>CTT p.H495L NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 495 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 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) ATTGAAGAGCATGCCAATTGG 0.418 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 39 63 --- --- --- --- PASS RGS12 6002 broad.mit.edu 37 4 3422404 3422404 + Missense_Mutation SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr4:3422404G>A uc003ggw.2 + 10 3701 c.2797G>A c.(2797-2799)GAG>AAG p.E933K RGS12_uc003ggv.2_Missense_Mutation_p.E933K|RGS12_uc003ggy.1_Missense_Mutation_p.E331K|RGS12_uc003ggz.2_Missense_Mutation_p.E285K|RGS12_uc010icu.1_Missense_Mutation_p.E132K|RGS12_uc011bvs.1_Missense_Mutation_p.E275K|RGS12_uc003gha.2_Missense_Mutation_p.E275K|RGS12_uc010icv.2_Missense_Mutation_p.E132K|RGS12_uc003ghb.2_Missense_Mutation_p.E132K NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 933 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GTGTCGCCGAGAGTCGCAGGG 0.602 9 59 --- --- --- --- PASS DRD5 1816 broad.mit.edu 37 4 9783772 9783772 + Missense_Mutation SNP A G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr4:9783772A>G uc003gmb.3 + 1 515 c.119A>G c.(118-120)CAG>CGG p.Q40R NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 40 Helical; Name=1; (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GGGCCCTCACAGGTGGTCACC 0.711 5 14 --- --- --- --- PASS SLC2A9 56606 broad.mit.edu 37 4 9828172 9828172 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr4:9828172C>A uc003gmc.2 - 12 1533 c.1472G>T c.(1471-1473)GGT>GTT p.G491V SLC2A9_uc003gmd.2_Missense_Mutation_p.G462V NM_020041 NP_064425 Q9NRM0 GTR9_HUMAN solute carrier family 2, member 9 protein 491 Helical; Name=12; (Potential). glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity ovary(3) 3 GTAGATAGCACCTGTGATACA 0.408 39 90 --- --- --- --- PASS NKX3-2 579 broad.mit.edu 37 4 13544134 13544134 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr4:13544134G>T uc003gmx.2 - 2 561 c.485C>A c.(484-486)ACC>AAC p.T162N NM_001189 NP_001180 P78367 NKX32_HUMAN NK3 homeobox 2 162 negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GTCGTCCTCGGTCCTTGGGCT 0.493 8 40 --- --- --- --- PASS BOD1L 259282 broad.mit.edu 37 4 13616019 13616019 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr4:13616019C>A uc003gmz.1 - 4 1092 c.975G>T c.(973-975)AAG>AAT p.K325N BOD1L_uc010idr.1_5'UTR|BOD1L_uc010ids.1_RNA NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 325 Lys-rich. DNA binding ovary(5)|breast(1) 6 TGCTGTCTGGCTTCTTTTCAC 0.244 9 9 --- --- --- --- PASS PCDH7 5099 broad.mit.edu 37 4 30921915 30921915 + Silent SNP G C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr4:30921915G>C uc011bxx.1 + 2 4323 c.3315G>C c.(3313-3315)GCG>GCC p.A1105A PCDH7_uc011bxw.1_Silent_p.A1058A NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor Error:Variant_position_missing_in_O60245_after_alignment homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 GACTGGGTGCGCTTCCACTCC 0.542 16 61 --- --- --- --- PASS C4orf7 260436 broad.mit.edu 37 4 71099810 71099810 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr4:71099810C>A uc003hfd.2 + 4 249 c.164C>A c.(163-165)CCA>CAA p.P55Q NM_152997 NP_694542 Q8NFU4 FDSCP_HUMAN chromosome 4 open reading frame 7 precursor 55 Pro-rich. extracellular region central_nervous_system(1) 1 CCACTTCCACCAATTCCATTT 0.408 64 164 --- --- --- --- PASS SHROOM3 57619 broad.mit.edu 37 4 77662456 77662456 + Nonsense_Mutation SNP A T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr4:77662456A>T uc011cbx.1 + 5 4083 c.3130A>T c.(3130-3132)AGA>TGA p.R1044* SHROOM3_uc011cbz.1_Nonsense_Mutation_p.R868*|SHROOM3_uc003hkf.1_Nonsense_Mutation_p.R919*|SHROOM3_uc003hkg.2_Nonsense_Mutation_p.R822* NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 1044 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) GGGCCCGCAGAGAAATGGGAT 0.677 15 26 --- --- --- --- PASS SPARCL1 8404 broad.mit.edu 37 4 88414957 88414957 + Missense_Mutation SNP G C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr4:88414957G>C uc010ikm.2 - 5 1567 c.995C>G c.(994-996)CCC>CGC p.P332R SPARCL1_uc011cdc.1_Missense_Mutation_p.P207R|SPARCL1_uc003hqs.3_Missense_Mutation_p.P332R|SPARCL1_uc011cdd.1_Missense_Mutation_p.P207R|SPARCL1_uc003hqt.2_Missense_Mutation_p.P332R NM_001128310 NP_001121782 Q14515 SPRL1_HUMAN SPARC-like 1 precursor 332 signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.00118) ATGATTTCTGGGCGTGGTATT 0.413 38 114 --- --- --- --- PASS OSTC 58505 broad.mit.edu 37 4 109571833 109571833 + Missense_Mutation SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr4:109571833C>T uc003hzb.1 + 1 93 c.22C>T c.(22-24)CCG>TCG p.P8S NM_021227 NP_067050 Q9NRP0 OSTC_HUMAN DC2 protein 8 Cytoplasmic (Potential). integral to membrane|oligosaccharyltransferase complex breast(1) 1 GTACCGTGTCCCGTTCTTAGT 0.597 34 66 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114278280 114278280 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr4:114278280C>A uc003ibe.3 + 38 8606 c.8506C>A c.(8506-8508)CAA>AAA p.Q2836K ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.Q138K|ANK2_uc011cgb.1_Missense_Mutation_p.Q2851K NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2803 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AGAATCTCCACAAGCAGATTG 0.413 29 71 --- --- --- --- PASS NDST4 64579 broad.mit.edu 37 4 115997762 115997762 + Nonsense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr4:115997762G>T uc003ibu.2 - 2 1110 c.431C>A c.(430-432)TCA>TAA p.S144* NDST4_uc010imw.2_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 144 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TCGATTCCATGAGTCCATGCT 0.358 22 54 --- --- --- --- PASS ARHGAP10 79658 broad.mit.edu 37 4 148743893 148743893 + Missense_Mutation SNP A T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr4:148743893A>T uc003ilf.2 + 2 170 c.170A>T c.(169-171)CAG>CTG p.Q57L ARHGAP10_uc003ile.1_Missense_Mutation_p.Q57L NM_024605 NP_078881 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 57 BAR. apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding skin(2)|pancreas(1)|lung(1) 4 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) TCAGTGGCCCAGCGGAAGTTT 0.348 17 65 --- --- --- --- PASS SPOCK3 50859 broad.mit.edu 37 4 167833819 167833819 + Silent SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr4:167833819G>T uc003iri.1 - 6 576 c.435C>A c.(433-435)GTC>GTA p.V145V SPOCK3_uc011cjp.1_Silent_p.V142V|SPOCK3_uc011cjq.1_Silent_p.V154V|SPOCK3_uc011cjr.1_Silent_p.V25V|SPOCK3_uc003irj.1_Silent_p.V142V|SPOCK3_uc011cjs.1_Silent_p.V94V|SPOCK3_uc011cjt.1_Silent_p.V53V|SPOCK3_uc011cju.1_Silent_p.V38V|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.3_Silent_p.V142V|SPOCK3_uc011cjw.1_Intron NM_016950 NP_058646 Q9BQ16 TICN3_HUMAN testican 3 isoform 2 145 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) GGCTGGGATAGACCACTGGGC 0.428 11 48 --- --- --- --- PASS ENPP6 133121 broad.mit.edu 37 4 185138911 185138911 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr4:185138911G>T uc003iwc.2 - 1 204 c.62C>A c.(61-63)TCT>TAT p.S21Y NM_153343 NP_699174 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 21 lipid catabolic process extracellular region|integral to membrane|plasma membrane central_nervous_system(1) 1 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) CCGGCGGGCAGAGGCTGGCTG 0.617 11 30 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13911575 13911575 + Nonsense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr5:13911575C>A uc003jfd.2 - 12 1606 c.1564G>T c.(1564-1566)GAA>TAA p.E522* DNAH5_uc003jfe.1_RNA NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 522 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AAATTGTATTCCTTTTTCTTT 0.299 Kartagener_syndrome 33 87 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13911576 13911576 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr5:13911576C>A uc003jfd.2 - 12 1605 c.1563G>T c.(1561-1563)AAG>AAT p.K521N DNAH5_uc003jfe.1_RNA NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 521 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AATTGTATTCCTTTTTCTTTA 0.303 Kartagener_syndrome 33 88 --- --- --- --- PASS TRIO 7204 broad.mit.edu 37 5 14336720 14336720 + Missense_Mutation SNP G C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr5:14336720G>C uc003jff.2 + 11 1936 c.1930G>C c.(1930-1932)GAG>CAG p.E644Q TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.E595Q|TRIO_uc003jfh.1_Missense_Mutation_p.E293Q NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 644 Spectrin 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) TGACCCCGAAGAGATTTATCA 0.493 10 93 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24509761 24509761 + Silent SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr5:24509761C>A uc003jgr.1 - 7 1502 c.1170G>T c.(1168-1170)CTG>CTT p.L390L CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 390 Cadherin 4.|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) GAACTTCAAACAGATAGGAGG 0.398 HNSCC(23;0.051) 13 56 --- --- --- --- PASS PRLR 5618 broad.mit.edu 37 5 35065578 35065578 + Silent SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr5:35065578C>A uc003jjm.2 - 10 2012 c.1482G>T c.(1480-1482)CTG>CTT p.L494L PRLR_uc003jjg.1_Intron|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Silent_p.L393L NM_000949 NP_000940 P16471 PRLR_HUMAN prolactin receptor precursor 494 Cytoplasmic (Potential). activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity ovary(2)|skin(1) 3 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TCTCCTGGGGCAGCAGCCAGG 0.493 23 141 --- --- --- --- PASS FYB 2533 broad.mit.edu 37 5 39134313 39134313 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr5:39134313C>A uc003jls.2 - 8 1881 c.1814G>T c.(1813-1815)AGC>ATC p.S605I FYB_uc003jlt.2_Missense_Mutation_p.S605I|FYB_uc003jlu.2_Missense_Mutation_p.S605I|FYB_uc011cpl.1_Missense_Mutation_p.S615I NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 605 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) CACATACCTGCTAATATCATC 0.373 13 175 --- --- --- --- PASS HTR1A 3350 broad.mit.edu 37 5 63256965 63256965 + Silent SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr5:63256965G>T uc011cqt.1 - 1 582 c.582C>A c.(580-582)GGC>GGA p.G194G NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 194 Helical; Name=5; (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) AGATAGTGTAGCCATGATCCT 0.582 52 165 --- --- --- --- PASS CMYA5 202333 broad.mit.edu 37 5 79028312 79028312 + Missense_Mutation SNP G C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr5:79028312G>C uc003kgc.2 + 2 3796 c.3724G>C c.(3724-3726)GTT>CTT p.V1242L NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1242 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GAAATATTCAGTTTTGCCTGA 0.408 3 20 --- --- --- --- PASS CMYA5 202333 broad.mit.edu 37 5 79029057 79029057 + Missense_Mutation SNP G C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr5:79029057G>C uc003kgc.2 + 2 4541 c.4469G>C c.(4468-4470)AGG>ACG p.R1490T NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1490 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GAGGAAGCAAGGGTAGAAGAC 0.388 27 138 --- --- --- --- PASS CMYA5 202333 broad.mit.edu 37 5 79029058 79029058 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr5:79029058G>T uc003kgc.2 + 2 4542 c.4470G>T c.(4468-4470)AGG>AGT p.R1490S NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1490 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AGGAAGCAAGGGTAGAAGACA 0.388 28 138 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 89925282 89925282 + Missense_Mutation SNP A G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr5:89925282A>G uc003kju.2 + 9 1861 c.1765A>G c.(1765-1767)AAA>GAA p.K589E GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 589 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) TCCAGAGCAAAAAACTCAAGT 0.254 27 73 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 89953949 89953949 + Nonsense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr5:89953949G>T uc003kju.2 + 21 4702 c.4606G>T c.(4606-4608)GAA>TAA p.E1536* GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 1536 Calx-beta 10.|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) CAATGACGAGGAAGGAGAAGA 0.348 36 106 --- --- --- --- PASS POU5F2 134187 broad.mit.edu 37 5 93077094 93077094 + Missense_Mutation SNP T G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr5:93077094T>G uc003kkl.1 - 1 216 c.176A>C c.(175-177)GAC>GCC p.D59A FAM172A_uc010jbd.2_Intron|FAM172A_uc011cuf.1_Intron|FAM172A_uc011cug.1_Intron|FAM172A_uc011cuh.1_Intron|FAM172A_uc011cui.1_Intron|FAM172A_uc011cuj.1_Intron NM_153216 NP_694948 Q8N7G0 PO5F2_HUMAN POU domain class 5, transcription factor 2 59 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19) CCTCCACACGTCAGGGCCTGG 0.672 9 23 --- --- --- --- PASS PCDHA1 56147 broad.mit.edu 37 5 140167301 140167301 + Missense_Mutation SNP A T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr5:140167301A>T uc003lhb.2 + 1 1426 c.1426A>T c.(1426-1428)ACG>TCG p.T476S PCDHA1_uc003lha.2_Missense_Mutation_p.T476S|PCDHA1_uc003lgz.2_Missense_Mutation_p.T476S NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 476 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCACATCTTCACGGTGTCTGC 0.657 31 68 --- --- --- --- PASS PCDHA1 56147 broad.mit.edu 37 5 140167302 140167302 + Missense_Mutation SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr5:140167302C>T uc003lhb.2 + 1 1427 c.1427C>T c.(1426-1428)ACG>ATG p.T476M PCDHA1_uc003lha.2_Missense_Mutation_p.T476M|PCDHA1_uc003lgz.2_Missense_Mutation_p.T476M NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 476 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACATCTTCACGGTGTCTGCG 0.652 32 67 --- --- --- --- PASS PCDHA4 56144 broad.mit.edu 37 5 140186986 140186986 + Missense_Mutation SNP G A A rs3822351 TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr5:140186986G>A uc003lhi.2 + 1 315 c.214G>A c.(214-216)GGA>AGA p.G72R PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.G72R|PCDHA4_uc011daa.1_Missense_Mutation_p.G72R NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 72 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAAGGGCCGCGGAGGCCTTCT 0.652 60 143 --- --- --- --- PASS PCDHB15 56121 broad.mit.edu 37 5 140625185 140625185 + Missense_Mutation SNP A T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr5:140625185A>T uc003lje.2 + 1 39 c.39A>T c.(37-39)CAA>CAT p.Q13H NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 13 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AACAAAGGCAAGTCCTGATTC 0.527 30 71 --- --- --- --- PASS PCDHGA7 56108 broad.mit.edu 37 5 140762771 140762771 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr5:140762771G>T uc003lka.1 + 1 305 c.305G>T c.(304-306)TGT>TTT p.C102F 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_uc003ljz.1_Missense_Mutation_p.C102F NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 102 Cadherin 1.|Extracellular (Potential). 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) AGTGCGCGGTGTCTGGTAAAC 0.483 36 62 --- --- --- --- PASS PCDHGB7 56099 broad.mit.edu 37 5 140798237 140798237 + Nonsense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr5:140798237G>T uc003lkn.1 + 1 956 c.811G>T c.(811-813)GAG>TAG p.E271* 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_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Nonsense_Mutation_p.E271*|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank NM_018927 NP_061750 Q9Y5F8 PCDGJ_HUMAN protocadherin gamma subfamily B, 7 isoform 1 271 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGACCAGGACGAGGGCATCAA 0.527 13 35 --- --- --- --- PASS CANX 821 broad.mit.edu 37 5 179151779 179151779 + Missense_Mutation SNP A T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr5:179151779A>T uc003mkk.2 + 13 1817 c.1640A>T c.(1639-1641)AAA>ATA p.K547I CANX_uc011dgp.1_Missense_Mutation_p.K582I|CANX_uc003mkl.2_Missense_Mutation_p.K547I|CANX_uc011dgq.1_Missense_Mutation_p.K439I NM_001746 NP_001737 P27824 CALX_HUMAN calnexin precursor 547 Cytoplasmic (Potential). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding 0 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) ggagaagagAAACTTGGTAAG 0.234 3 6 --- --- --- --- PASS NUP153 9972 broad.mit.edu 37 6 17661915 17661915 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr6:17661915C>A uc003ncd.1 - 11 1564 c.1364G>T c.(1363-1365)CGC>CTC p.R455L NUP153_uc011dje.1_Missense_Mutation_p.R455L|NUP153_uc010jpl.1_Missense_Mutation_p.R455L NM_005124 NP_005115 P49790 NU153_HUMAN nucleoporin 153kDa 455 TR -> HA (in Ref. 1; CAA80982). carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding lung(4)|ovary(2)|breast(2)|skin(1) 9 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) AGCAACAAAGCGTGTTCTTTC 0.453 33 126 --- --- --- --- PASS TRIM38 10475 broad.mit.edu 37 6 25973469 25973469 + Missense_Mutation SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr6:25973469C>T uc003nfm.2 + 7 1265 c.830C>T c.(829-831)TCC>TTC p.S277F TRIM38_uc003nfn.2_Missense_Mutation_p.S259F|TRIM38_uc010jqd.2_5'UTR NM_006355 NP_006346 O00635 TRI38_HUMAN tripartite motif-containing 38 277 B30.2/SPRY. positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular signal transducer activity|zinc ion binding 0 TGCAATGTTTCCAAGCTTTAC 0.418 11 31 --- --- --- --- PASS TNXB 7148 broad.mit.edu 37 6 32047066 32047066 + Silent SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr6:32047066C>A uc003nzl.2 - 11 4321 c.4119G>T c.(4117-4119)CCG>CCT p.P1373P NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 1460 Fibronectin type-III 7. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 CCCCCAGGAGCGGCTCCTCGG 0.627 23 64 --- --- --- --- PASS PPT2 9374 broad.mit.edu 37 6 32122917 32122917 + Missense_Mutation SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr6:32122917G>A uc003nzx.2 + 3 862 c.294G>A c.(292-294)ATG>ATA p.M98I PRRT1_uc003nzu.2_5'Flank|uc003nzv.3_5'Flank|PPT2_uc003nzw.2_Missense_Mutation_p.M104I|PPT2_uc011dpi.1_Intron|PPT2_uc003nzy.1_RNA|PPT2_uc003nzz.2_Missense_Mutation_p.M98I|PPT2_uc003oaa.2_Missense_Mutation_p.M98I|PPT2_uc010jtu.1_Missense_Mutation_p.M98I NM_005155 NP_005146 Q9UMR5 PPT2_HUMAN palmitoyl-protein thioesterase 2 isoform a 98 protein modification process lysosome palmitoyl-(protein) hydrolase activity 0 TCCCCATCATGGCAAAGGCCC 0.582 7 64 --- --- --- --- PASS LRFN2 57497 broad.mit.edu 37 6 40399870 40399870 + Missense_Mutation SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr6:40399870C>T uc003oph.1 - 2 1448 c.983G>A c.(982-984)CGC>CAC p.R328H NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 328 Extracellular (Potential).|Ig-like. cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) CCCTACCAGGCGGTCATCGGG 0.582 10 62 --- --- --- --- PASS CRISP2 7180 broad.mit.edu 37 6 49676896 49676896 + Missense_Mutation SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr6:49676896G>A uc003ozq.2 - 4 270 c.14C>T c.(13-15)CCG>CTG p.P5L CRISP2_uc003ozl.2_Missense_Mutation_p.P5L|CRISP2_uc003ozn.2_Missense_Mutation_p.P5L|CRISP2_uc003ozr.2_Missense_Mutation_p.P5L|CRISP2_uc003ozo.2_Missense_Mutation_p.P5L|CRISP2_uc003ozm.2_Missense_Mutation_p.P5L|CRISP2_uc003ozp.2_Missense_Mutation_p.P5L NM_001142408 NP_001135880 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 precursor 5 extracellular space skin(1) 1 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) AAACAACACCGGTAGTAAAGC 0.373 6 77 --- --- --- --- PASS COL9A1 1297 broad.mit.edu 37 6 70964204 70964204 + Missense_Mutation SNP C G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr6:70964204C>G uc003pfg.3 - 25 1853 c.1694G>C c.(1693-1695)GGT>GCT p.G565A COL9A1_uc003pfe.3_Missense_Mutation_p.G138A|COL9A1_uc003pff.3_Missense_Mutation_p.G322A NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 565 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 TCCTGCATCACCAGGAGGCCC 0.388 9 84 --- --- --- --- PASS FILIP1 27145 broad.mit.edu 37 6 76022257 76022257 + Silent SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr6:76022257C>T uc003pia.2 - 5 3664 c.3291G>A c.(3289-3291)GTG>GTA p.V1097V FILIP1_uc003phy.1_Silent_p.V1097V|FILIP1_uc003phz.2_Silent_p.V998V|FILIP1_uc010kbe.2_Silent_p.V1100V|FILIP1_uc003pib.1_Silent_p.V849V NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 1097 skin(3)|ovary(1) 4 TTTCGGCTGTCACGTTTACTG 0.507 22 131 --- --- --- --- PASS HTR1E 3354 broad.mit.edu 37 6 87726078 87726078 + Silent SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr6:87726078G>T uc003pli.2 + 2 1729 c.1026G>T c.(1024-1026)CTG>CTT p.L342L NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 342 Helical; Name=7; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) TCAACCCTCTGCTCTATACGA 0.433 15 160 --- --- --- --- PASS CDK19 23097 broad.mit.edu 37 6 110935789 110935789 + Silent SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr6:110935789C>A uc003puh.1 - 13 1531 c.1458G>T c.(1456-1458)TCG>TCT p.S486S CDK19_uc003pui.1_Silent_p.S426S|CDK19_uc011eax.1_Silent_p.S362S NM_015076 NP_055891 Q9BWU1 CDK19_HUMAN cell division cycle 2-like 6 (CDK8-like) 486 Ser-rich. ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 TCTGCTGAGACGAGGAAGAGT 0.592 25 62 --- --- --- --- PASS DCBLD1 285761 broad.mit.edu 37 6 117859846 117859846 + Missense_Mutation SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr6:117859846C>T uc003pxs.2 + 8 949 c.824C>T c.(823-825)TCG>TTG p.S275L GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Missense_Mutation_p.S275L|DCBLD1_uc003pxt.1_5'Flank NM_173674 NP_775945 Q8N8Z6 DCBD1_HUMAN discoidin, CUB and LCCL domain containing 1 275 F5/8 type C.|Extracellular (Potential). cell adhesion integral to membrane ovary(1) 1 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) TCATGGCAGTCGGTCAATGAG 0.502 21 135 --- --- --- --- PASS L3MBTL3 84456 broad.mit.edu 37 6 130378581 130378581 + Missense_Mutation SNP G C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr6:130378581G>C uc003qbt.2 + 9 868 c.698G>C c.(697-699)TGC>TCC p.C233S L3MBTL3_uc003qbu.2_Missense_Mutation_p.C208S NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 isoform a 233 MBT 1. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) AAAGCGTGGTGCTGGGCATCC 0.527 7 26 --- --- --- --- PASS SNX9 51429 broad.mit.edu 37 6 158318005 158318005 + Silent SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr6:158318005C>A uc003qqv.1 + 5 620 c.447C>A c.(445-447)GGC>GGA p.G149G NM_016224 NP_057308 Q9Y5X1 SNX9_HUMAN sorting nexin 9 149 cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network 1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding 0 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167) OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05) CTGCCTTCGGCCACCCCCAGG 0.582 18 44 --- --- --- --- PASS LPA 4018 broad.mit.edu 37 6 160998175 160998175 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr6:160998175G>T uc003qtl.2 - 29 4744 c.4624C>A c.(4624-4626)CCA>ACA p.P1542T NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 4050 Kringle 36. 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) TACGCATTTGGGTAGTTTTCT 0.438 50 168 --- --- --- --- PASS IQCE 23288 broad.mit.edu 37 7 2606780 2606780 + Missense_Mutation SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:2606780G>A uc003smo.3 + 2 251 c.67G>A c.(67-69)GAC>AAC p.D23N IQCE_uc010ksm.1_Missense_Mutation_p.D23N|IQCE_uc003sml.1_Missense_Mutation_p.D23N|IQCE_uc011jvy.1_Intron|IQCE_uc011jvz.1_Intron|IQCE_uc003smk.3_Intron|IQCE_uc003smn.3_Intron NM_152558 NP_689771 Q6IPM2 IQCE_HUMAN IQ motif containing E isoform 1 23 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) AGTCACCTTTGACTCTGATGT 0.572 3 46 --- --- --- --- PASS OCM 654231 broad.mit.edu 37 7 5920533 5920533 + Missense_Mutation SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:5920533G>A uc003spe.3 + 1 105 c.13G>A c.(13-15)GAC>AAC p.D5N NM_001097622 NP_001091091 P0CE72 ONCO_HUMAN oncomodulin 5 calcium ion binding 0 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14) GAGCATCACGGACGTGCTCAG 0.547 15 86 --- --- --- --- PASS GPNMB 10457 broad.mit.edu 37 7 23299746 23299746 + Missense_Mutation SNP A T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:23299746A>T uc003swc.2 + 5 850 c.689A>T c.(688-690)TAC>TTC p.Y230F GPNMB_uc003swb.2_Missense_Mutation_p.Y230F|GPNMB_uc011jyy.1_Missense_Mutation_p.Y172F|GPNMB_uc011jyz.1_Missense_Mutation_p.Y131F NM_001005340 NP_001005340 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb isoform a 230 Extracellular (Potential). negative regulation of cell proliferation melanosome ovary(3)|breast(2) 5 GBM - Glioblastoma multiforme(13;0.154) AAAGATGTGTACGTGGTAACA 0.478 25 128 --- --- --- --- PASS HOXA10 3206 broad.mit.edu 37 7 27213793 27213793 + Missense_Mutation SNP C G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:27213793C>G uc011jzm.1 - 1 163 c.133G>C c.(133-135)GGT>CGT p.G45R HOXA10_uc003syw.3_Intron NM_018951 NP_061824 P31260 HXA10_HUMAN homeobox A10 isoform a 45 Poly-Gly. spermatogenesis protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 ccaccaccaccgccgccTGCC 0.507 17 61 --- --- --- --- PASS ADCYAP1R1 117 broad.mit.edu 37 7 31126607 31126607 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:31126607G>T uc003tca.1 + 11 1097 c.874G>T c.(874-876)GAT>TAT p.D292Y ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.D271Y|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.D292Y|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.D292Y|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.D292Y|ADCYAP1R1_uc003tcf.1_5'UTR NM_001118 NP_001109 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 292 Extracellular (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 ACTCTACTTTGATGACACAGG 0.507 25 167 --- --- --- --- PASS GLI3 2737 broad.mit.edu 37 7 42007481 42007481 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:42007481C>A uc011kbh.1 - 14 2235 c.2144G>T c.(2143-2145)AGC>ATC p.S715I GLI3_uc011kbg.1_Missense_Mutation_p.S656I NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 715 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 GGACTGTTGGCTGCTGCATGA 0.542 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 23 209 --- --- --- --- PASS IGFBP3 3486 broad.mit.edu 37 7 45956972 45956972 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:45956972G>T uc003tns.2 - 2 602 c.470C>A c.(469-471)ACG>AAG p.T157K IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Missense_Mutation_p.T163K|IGFBP3_uc003tnt.2_Missense_Mutation_p.T60K NM_000598 NP_000589 P17936 IBP3_HUMAN insulin-like growth factor binding protein 3 157 Ser/Thr-rich. negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth nucleus insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity large_intestine(2)|lung(1) 3 Mecasermin(DB01277) CACCCGGTGCGTGCTGGAGAC 0.532 OREG0018049 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 137 --- --- --- --- PASS IKZF1 10320 broad.mit.edu 37 7 50468275 50468275 + Missense_Mutation SNP G C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:50468275G>C uc003tow.3 + 9 1678 c.1510G>C c.(1510-1512)GAG>CAG p.E504Q IKZF1_uc003tox.3_Missense_Mutation_p.E462Q|IKZF1_uc003toy.3_Missense_Mutation_p.E462Q|IKZF1_uc011kck.1_Missense_Mutation_p.E417Q|IKZF1_uc003toz.3_Missense_Mutation_p.E474Q|IKZF1_uc010kyx.2_Missense_Mutation_p.E244Q|IKZF1_uc003tpa.3_Missense_Mutation_p.E246Q NM_006060 NP_006051 Q13422 IKZF1_HUMAN zinc finger protein, subfamily 1A, 1 (Ikaros) 504 C2H2-type 6. cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.E504fs*?(1) haematopoietic_and_lymphoid_tissue(147)|lung(1) 148 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) GGACCGGTACGAGTTCTCGTC 0.612 D ALL 11 137 --- --- --- --- PASS EGFR 1956 broad.mit.edu 37 7 55259469 55259469 + Missense_Mutation SNP G T T rs146795390 TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:55259469G>T uc003tqk.2 + 21 2773 c.2527G>T c.(2527-2529)GTA>TTA p.V843L EGFR_uc010kzg.1_Missense_Mutation_p.V798L|EGFR_uc011kco.1_Missense_Mutation_p.V790L|uc003tqo.2_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 843 Cytoplasmic (Potential).|Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V843I(6) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AGCCAGGAACGTACTGGTGAA 0.537 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 198 88 --- --- --- --- PASS EGFR 1956 broad.mit.edu 37 7 55259524 55259524 + Missense_Mutation SNP T A A rs121913444 TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:55259524T>A uc003tqk.2 + 21 2828 c.2582T>A c.(2581-2583)CTG>CAG p.L861Q EGFR_uc010kzg.1_Missense_Mutation_p.L816Q|EGFR_uc011kco.1_Missense_Mutation_p.L808Q|uc003tqo.2_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 861 Cytoplasmic (Potential).|Protein kinase. L -> Q (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L861Q(96)|p.L861R(10)|p.A859_L883>V(2)|p.L861F(1)|p.L861V(1)|p.L861P(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CTGGCCAAACTGCTGGGTGCG 0.557 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 174 98 --- --- --- --- PASS ABCB4 5244 broad.mit.edu 37 7 87082427 87082427 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:87082427C>A uc003uiv.1 - 6 445 c.369G>T c.(367-369)TTG>TTT p.L123F ABCB4_uc003uiw.1_Missense_Mutation_p.L123F|ABCB4_uc003uix.1_Missense_Mutation_p.L123F|ABCB4_uc003uiy.2_Missense_Mutation_p.L123F NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 123 Helical; (By similarity).|ABC transmembrane type-1 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) CTCCAGCACCCAATCCTGAGT 0.308 25 71 --- --- --- --- PASS ANKIB1 54467 broad.mit.edu 37 7 92019373 92019373 + Silent SNP A T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:92019373A>T uc003ulw.2 + 15 2371 c.1995A>T c.(1993-1995)CCA>CCT p.P665P ANKIB1_uc010lew.1_5'UTR NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 665 protein binding|zinc ion binding lung(1) 1 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GTTCTTATCCATATGGATTTT 0.333 42 114 --- --- --- --- PASS BRI3 25798 broad.mit.edu 37 7 97920546 97920546 + Silent SNP C G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:97920546C>G uc003upi.2 + 3 498 c.369C>G c.(367-369)ACC>ACG p.T123T BRI3_uc011kip.1_Intron NM_015379 NP_056194 O95415 BRI3_HUMAN brain protein I3 isoform a 123 integral to membrane 0 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) GTGGAGCCACCTTCGCTTAAA 0.473 28 70 --- --- --- --- PASS MOSPD3 64598 broad.mit.edu 37 7 100210480 100210480 + Silent SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:100210480G>T uc003uvq.2 + 2 268 c.66G>T c.(64-66)CGG>CGT p.R22R MOSPD3_uc003uvr.2_Silent_p.R22R|MOSPD3_uc003uvs.2_Silent_p.R22R|MOSPD3_uc003uvt.2_Silent_p.R22R NM_001040097 NP_001035186 O75425 MSPD3_HUMAN motile sperm domain containing 3 isoform a 22 integral to membrane structural molecule activity ovary(2) 2 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) gggggtcccggggcgccccTC 0.567 13 34 --- --- --- --- PASS ZAN 7455 broad.mit.edu 37 7 100371097 100371097 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:100371097C>A uc003uwj.2 + 30 5780 c.5615C>A c.(5614-5616)CCA>CAA p.P1872Q ZAN_uc003uwk.2_Missense_Mutation_p.P1872Q|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Missense_Mutation_p.P449Q|ZAN_uc011kke.1_5'Flank NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 1872 VWFC 3.|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TGCACTGACCCAGCGGGCTCC 0.637 14 29 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100677549 100677549 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:100677549C>A uc003uxp.1 + 3 2905 c.2852C>A c.(2851-2853)ACC>AAC p.T951N MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 951 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|13. 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) CCTGTTGACACCAGCACACCT 0.512 60 497 --- --- --- --- PASS PIK3CG 5294 broad.mit.edu 37 7 106508804 106508804 + Silent SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:106508804C>T uc003vdv.3 + 2 883 c.798C>T c.(796-798)AGC>AGT p.S266S PIK3CG_uc003vdu.2_Silent_p.S266S|PIK3CG_uc003vdw.2_Silent_p.S266S NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 266 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 AAAGCCAAAGCGAACAGGATT 0.552 13 67 --- --- --- --- PASS FEZF1 389549 broad.mit.edu 37 7 121944015 121944015 + Silent SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:121944015G>A uc003vkd.2 - 1 551 c.477C>T c.(475-477)GCC>GCT p.A159A FEZF1_uc003vkc.2_Intron|uc010lko.1_RNA|uc003vkf.1_5'Flank NM_001024613 NP_001019784 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 isoform 1 159 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1) 3 GGTAGCACAAGGCGCCCATGG 0.657 4 9 --- --- --- --- PASS RNF148 378925 broad.mit.edu 37 7 122342126 122342126 + Missense_Mutation SNP G C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:122342126G>C uc003vkk.1 - 1 896 c.679C>G c.(679-681)CAA>GAA p.Q227E CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF133_uc003vkj.1_5'Flank|RNF148_uc010lkr.1_Nonsense_Mutation_p.S92* NM_198085 NP_932351 Q8N7C7 RN148_HUMAN ring finger protein 148 precursor 227 integral to membrane zinc ion binding 0 GTCTTTATTTGACTTCGCCTC 0.428 9 51 --- --- --- --- PASS FLNC 2318 broad.mit.edu 37 7 128480702 128480702 + Silent SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:128480702G>T uc003vnz.3 + 10 1859 c.1650G>T c.(1648-1650)ACG>ACT p.T550T FLNC_uc003voa.3_Silent_p.T550T NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 550 Filamin 3. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 TGACCATCACGTGGGGCGGCT 0.647 59 91 --- --- --- --- PASS CNOT4 4850 broad.mit.edu 37 7 135078671 135078671 + Silent SNP T A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:135078671T>A uc003vsv.1 - 10 1933 c.1626A>T c.(1624-1626)GCA>GCT p.A542A CNOT4_uc003vss.2_Silent_p.A539A|CNOT4_uc011kpz.1_Silent_p.A539A|CNOT4_uc003vst.2_Silent_p.A542A|CNOT4_uc003vsu.1_Silent_p.A539A|CNOT4_uc011kpy.1_Silent_p.A542A NM_001008225 NP_001008226 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 542 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding 0 TGAACCTACCTGCTACAGGGA 0.413 8 54 --- --- --- --- PASS DGKI 9162 broad.mit.edu 37 7 137374731 137374731 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:137374731G>T uc003vtt.2 - 2 420 c.419C>A c.(418-420)GCA>GAA p.A140E DGKI_uc003vtu.2_Intron NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 140 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 CTGGAGGCCTGCCCGGGAGAT 0.468 8 80 --- --- --- --- PASS JHDM1D 80853 broad.mit.edu 37 7 139793879 139793879 + Missense_Mutation SNP C G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:139793879C>G uc003vvm.2 - 18 2438 c.2434G>C c.(2434-2436)GAT>CAT p.D812H JHDM1D_uc010lng.2_RNA NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN jumonji C domain containing histone demethylase 812 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Melanoma(164;0.0142) CTGGAAGTATCAAACTGTTTA 0.318 31 265 --- --- --- --- PASS TAS2R60 338398 broad.mit.edu 37 7 143141210 143141210 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:143141210G>T uc011ktg.1 + 1 665 c.665G>T c.(664-666)AGA>ATA p.R222I uc003wda.2_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN taste receptor, type 2, member 60 222 Cytoplasmic (Potential). sensory perception of bitter taste integral to membrane G-protein coupled receptor activity skin(6) 6 Melanoma(164;0.172) TCTCTGGGAAGACACAGGAAG 0.463 49 114 --- --- --- --- PASS ARHGEF35 445328 broad.mit.edu 37 7 143884332 143884332 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:143884332C>A uc003wdz.1 - 2 1263 c.1145G>T c.(1144-1146)TGG>TTG p.W382L NM_001003702 NP_001003702 A5YM69 ARG35_HUMAN Rho guanine nucleotide exchange factor (GEF) 382 Glu-rich. 0 GCCCCCATCCCAACTCTCTGG 0.562 8 20 --- --- --- --- PASS ZNF425 155054 broad.mit.edu 37 7 148802283 148802283 + Missense_Mutation SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:148802283G>A uc003wfj.2 - 4 753 c.680C>T c.(679-681)TCC>TTC p.S227F NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 227 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CTTCCCTCTGGACGAGTTTTT 0.527 4 85 --- --- --- --- PASS NOS3 4846 broad.mit.edu 37 7 150698429 150698429 + Silent SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:150698429C>A uc003wif.2 + 11 1640 c.1344C>A c.(1342-1344)ATC>ATA p.I448I NOS3_uc011kuy.1_Silent_p.I242I|NOS3_uc011kuz.1_Silent_p.I448I|NOS3_uc011kva.1_Silent_p.I448I|NOS3_uc011kvb.1_Silent_p.I448I NM_000603 NP_000594 P29474 NOS3_HUMAN nitric oxide synthase 3 isoform 1 448 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding central_nervous_system(5)|large_intestine(2)|skin(1) 8 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) GGGCCTGGATCGTGCCCCCCA 0.622 28 79 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151842380 151842380 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr7:151842380G>T uc003wla.2 - 54 14251 c.14032C>A c.(14032-14034)CTT>ATT p.L4678I MLL3_uc003wkz.2_Missense_Mutation_p.L3796I|MLL3_uc003wkx.2_Missense_Mutation_p.L836I|MLL3_uc003wky.2_Missense_Mutation_p.L2242I NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 4678 FYR C-terminal. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) ACCCCAGGAAGCTGAAAAGAA 0.488 N medulloblastoma 3 69 --- --- --- --- PASS DLC1 10395 broad.mit.edu 37 8 13259053 13259053 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr8:13259053G>T uc003wwm.2 - 3 1543 c.1099C>A c.(1099-1101)CAG>AAG p.Q367K DLC1_uc003wwn.2_Missense_Mutation_p.Q367K|DLC1_uc011kxy.1_Missense_Mutation_p.Q367K NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 367 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 TCTATGTCCTGATCAAGCTGG 0.493 17 65 --- --- --- --- PASS ADAM2 2515 broad.mit.edu 37 8 39613369 39613369 + Nonsense_Mutation SNP T A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr8:39613369T>A uc003xnj.2 - 16 1750 c.1675A>T c.(1675-1677)AGA>TGA p.R559* ADAM2_uc003xnk.2_Nonsense_Mutation_p.R540*|ADAM2_uc011lck.1_Intron|ADAM2_uc003xnl.2_Intron NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 559 Extracellular (Potential).|Cys-rich. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) ATAGTGGCTCTTGGAATTTGT 0.308 12 64 --- --- --- --- PASS MRPL15 29088 broad.mit.edu 37 8 55060196 55060196 + Missense_Mutation SNP G C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr8:55060196G>C uc003xsa.2 + 5 871 c.808G>C c.(808-810)GCT>CCT p.A270P NM_014175 NP_054894 Q9P015 RM15_HUMAN mitochondrial ribosomal protein L15 precursor 270 translation large ribosomal subunit|mitochondrion structural constituent of ribosome 0 Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458) CTTTGGTCTTGCTCCAGGATG 0.403 15 67 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55537694 55537694 + Missense_Mutation SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr8:55537694G>A uc003xsd.1 + 4 1400 c.1252G>A c.(1252-1254)GAA>AAA p.E418K RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 418 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TCAAGTGGCTGAAACTTGCAG 0.453 14 87 --- --- --- --- PASS CHD7 55636 broad.mit.edu 37 8 61777948 61777948 + Missense_Mutation SNP A T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr8:61777948A>T uc003xue.2 + 38 8927 c.8450A>T c.(8449-8451)AAT>ATT p.N2817I NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2817 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GGGCTGTTGAATAACCCTCTG 0.557 4 15 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77690498 77690498 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr8:77690498G>T uc003yav.2 + 4 3457 c.3070G>T c.(3070-3072)GCC>TCC p.A1024S ZFHX4_uc003yau.1_Missense_Mutation_p.A1050S|ZFHX4_uc003yaw.1_Missense_Mutation_p.A1024S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1024 C2H2-type 7. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTACTACTGTGCCGTGTGTGA 0.507 HNSCC(33;0.089) 49 136 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77764219 77764219 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr8:77764219C>A uc003yav.2 + 10 5314 c.4927C>A c.(4927-4929)CCA>ACA p.P1643T ZFHX4_uc003yau.1_Missense_Mutation_p.P1688T|ZFHX4_uc003yaw.1_Missense_Mutation_p.P1643T NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1643 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACATCACCCACCACAGTCACC 0.418 HNSCC(33;0.089) 18 70 --- --- --- --- PASS NBN 4683 broad.mit.edu 37 8 90965859 90965859 + Silent SNP A G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr8:90965859A>G uc003yej.1 - 11 1568 c.1458T>C c.(1456-1458)TCT>TCC p.S486S NBN_uc003yei.1_Silent_p.S404S|NBN_uc011lgb.1_Silent_p.S486S NM_002485 NP_002476 O60934 NBN_HUMAN nibrin 486 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding central_nervous_system(3)|kidney(3)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(11;0.0344) AAAGAGAACAAGACGTTTCTA 0.353 Direct_reversal_of_damage|Homologous_recombination Nijmegen_Breakage_syndrome 8 56 --- --- --- --- PASS ESRP1 54845 broad.mit.edu 37 8 95677390 95677390 + Missense_Mutation SNP A T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr8:95677390A>T uc003ygq.3 + 9 1080 c.897A>T c.(895-897)AAA>AAT p.K299N ESRP1_uc003ygr.3_Missense_Mutation_p.K299N|ESRP1_uc003ygs.3_Missense_Mutation_p.K299N|ESRP1_uc003ygt.3_Missense_Mutation_p.K299N|ESRP1_uc003ygu.3_Missense_Mutation_p.K299N|ESRP1_uc003ygv.2_Missense_Mutation_p.K139N|ESRP1_uc003ygw.2_Missense_Mutation_p.K139N NM_017697 NP_060167 Q6NXG1 ESRP1_HUMAN RNA binding motif protein 35A isoform 1 299 RRM 1. mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) prostate(4) 4 AGGTTTACAAAGCAACAGGTG 0.358 5 45 --- --- --- --- PASS RIMS2 9699 broad.mit.edu 37 8 105010469 105010469 + Missense_Mutation SNP G C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr8:105010469G>C uc003yls.2 + 16 2676 c.2435G>C c.(2434-2436)AGG>ACG p.R812T RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.R826T|RIMS2_uc003ylq.2_Missense_Mutation_p.R826T|RIMS2_uc003ylr.2_Intron NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1096 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CATCATCACAGGGATGGCAGG 0.358 HNSCC(12;0.0054) 36 84 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113237021 113237021 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr8:113237021G>T uc003ynu.2 - 71 11262 c.11103C>A c.(11101-11103)AAC>AAA p.N3701K CSMD3_uc003yns.2_Missense_Mutation_p.N2903K|CSMD3_uc003ynt.2_Missense_Mutation_p.N3661K|CSMD3_uc011lhx.1_Missense_Mutation_p.N3532K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3701 Cytoplasmic (Potential). 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 TGCAAACCGTGTTCAAGTTGG 0.423 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 45 136 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113293558 113293558 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr8:113293558C>A uc003ynu.2 - 59 9512 c.9353G>T c.(9352-9354)GGA>GTA p.G3118V CSMD3_uc003yns.2_Missense_Mutation_p.G2320V|CSMD3_uc003ynt.2_Missense_Mutation_p.G3078V|CSMD3_uc011lhx.1_Missense_Mutation_p.G2949V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3118 Extracellular (Potential).|Sushi 23. 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 GGCTGTGGTTCCTGGGTTACC 0.373 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 20 47 --- --- --- --- PASS TRPS1 7227 broad.mit.edu 37 8 116617174 116617174 + Missense_Mutation SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr8:116617174C>T uc003ynz.2 - 3 1442 c.983G>A c.(982-984)GGG>GAG p.G328E TRPS1_uc011lhy.1_Missense_Mutation_p.G332E|TRPS1_uc003yny.2_Missense_Mutation_p.G341E|TRPS1_uc010mcy.2_Missense_Mutation_p.G328E NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 328 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) CTTGGTGTTCCCTTGGCAATC 0.408 Langer-Giedion_syndrome 26 80 --- --- --- --- PASS TNFRSF11B 4982 broad.mit.edu 37 8 119941028 119941028 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr8:119941028G>T uc003yon.3 - 3 864 c.541C>A c.(541-543)CAC>AAC p.H181N TNFRSF11B_uc010mdc.1_RNA NM_002546 NP_002537 O00300 TR11B_HUMAN osteoprotegerin precursor 181 TNFR-Cys 4. apoptosis|skeletal system development cytokine activity|receptor activity central_nervous_system(2) 2 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) ATGTTGTCGTGTGTTGCATTT 0.383 27 151 --- --- --- --- PASS ASAP1 50807 broad.mit.edu 37 8 131130758 131130758 + Nonsense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr8:131130758C>A uc003yta.1 - 18 1799 c.1771G>T c.(1771-1773)GAA>TAA p.E591* ASAP1_uc003ysz.1_Nonsense_Mutation_p.E402*|ASAP1_uc011liw.1_Nonsense_Mutation_p.E584* NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 591 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 AGCAGTGGTTCCATTAGCTCT 0.373 17 107 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139163751 139163751 + Silent SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr8:139163751C>A uc003yuy.2 - 13 3138 c.2967G>T c.(2965-2967)GTG>GTT p.V989V FAM135B_uc003yux.2_Silent_p.V890V|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.V551V|FAM135B_uc003yvb.2_Silent_p.V551V NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 989 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) CGGAATGGGTCACAGTGGGGC 0.493 HNSCC(54;0.14) 7 103 --- --- --- --- PASS SLC1A1 6505 broad.mit.edu 37 9 4567684 4567684 + Missense_Mutation SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr9:4567684G>A uc003zij.1 + 6 735 c.499G>A c.(499-501)GAA>AAA p.E167K C9orf68_uc003zik.2_Intron NM_004170 NP_004161 P43005 EAA3_HUMAN solute carrier family 1, member 1 167 Extracellular (Potential). D-aspartate import|L-glutamate import|synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity 0 Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457) GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183) L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142) AACTAAGCGTGAAGAAGTGAA 0.383 13 39 --- --- --- --- PASS KIAA2026 158358 broad.mit.edu 37 9 5922375 5922375 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr9:5922375C>A uc003zjq.3 - 8 3837 c.3621G>T c.(3619-3621)GAG>GAT p.E1207D KIAA2026_uc010mht.2_Missense_Mutation_p.E382D NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 1207 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) CTTTTCCTGCCTCACTCTGGC 0.458 16 79 --- --- --- --- PASS CTSL1 1514 broad.mit.edu 37 9 90343291 90343291 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr9:90343291G>T uc004aph.2 + 4 726 c.376G>T c.(376-378)GTG>TTG p.V126L CTSL1_uc004api.2_Missense_Mutation_p.V126L|CTSL1_uc004apj.2_Missense_Mutation_p.V71L|CTSL1_uc010mqh.2_Intron|CTSL1_uc004apk.2_Missense_Mutation_p.V126L|CTSL1_uc004apl.2_Missense_Mutation_p.V126L NM_001912 NP_001903 P07711 CATL1_HUMAN cathepsin L1 preproprotein 126 macrophage apoptosis|proteolysis extracellular region|lysosome|nucleus cysteine-type endopeptidase activity|histone binding ovary(3) 3 Glucagon recombinant(DB00040) GAAAGGCTACGTGACTCCTGT 0.478 13 34 --- --- --- --- PASS ACTL7A 10881 broad.mit.edu 37 9 111625376 111625376 + Missense_Mutation SNP C G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr9:111625376C>G uc004bdj.1 + 1 774 c.774C>G c.(772-774)AAC>AAG p.N258K NM_006687 NP_006678 Q9Y615 ACL7A_HUMAN actin-like 7A 258 cytoplasm|cytoskeleton|protein complex structural constituent of cytoskeleton 0 GCCTGCTGAACAGTGCGGGGA 0.572 7 38 --- --- --- --- PASS FKBP15 23307 broad.mit.edu 37 9 115952794 115952794 + Missense_Mutation SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr9:115952794G>A uc004bgs.2 - 12 1248 c.1130C>T c.(1129-1131)CCC>CTC p.P377L FKBP15_uc010muu.1_Missense_Mutation_p.P441L|FKBP15_uc011lxc.1_5'Flank|FKBP15_uc011lxd.1_Missense_Mutation_p.P309L|FKBP15_uc010mut.1_Missense_Mutation_p.P245L|FKBP15_uc004bgt.2_Missense_Mutation_p.P377L NM_015258 NP_056073 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 377 endocytosis|protein folding axon|early endosome actin binding ovary(3) 3 TGGAAGGATGGGCAGCATGGG 0.453 6 18 --- --- --- --- PASS CERCAM 51148 broad.mit.edu 37 9 131186890 131186890 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr9:131186890G>T uc004buz.3 + 5 1161 c.763G>T c.(763-765)GCT>TCT p.A255S CERCAM_uc004buy.1_Missense_Mutation_p.A177S|CERCAM_uc010mxz.2_Missense_Mutation_p.A177S|CERCAM_uc010mya.1_Missense_Mutation_p.A96S NM_016174 NP_057258 Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 1 255 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane pancreas(1) 1 CTGCCAGGCTGCTGGTGAGGA 0.403 23 57 --- --- --- --- PASS USP20 10868 broad.mit.edu 37 9 132642449 132642449 + Missense_Mutation SNP G C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr9:132642449G>C uc004bys.2 + 25 2853 c.2642G>C c.(2641-2643)GGA>GCA p.G881A USP20_uc004byr.2_Missense_Mutation_p.G881A|USP20_uc004byt.1_Missense_Mutation_p.G881A|USP20_uc004byu.1_Missense_Mutation_p.G67A NM_001110303 NP_001103773 Q9Y2K6 UBP20_HUMAN ubiquitin specific protease 20 881 DUSP 2. endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding lung(1)|breast(1) 2 Ovarian(14;0.00556) AGCCTGTATGGAGGTGGCCCC 0.647 5 67 --- --- --- --- PASS FUBP3 8939 broad.mit.edu 37 9 133488374 133488374 + Silent SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr9:133488374G>T uc004bzr.1 + 5 414 c.306G>T c.(304-306)CGG>CGT p.R102R FUBP3_uc010mzd.1_Silent_p.R42R|FUBP3_uc004bzs.1_Silent_p.R15R NM_003934 NP_003925 Q96I24 FUBP3_HUMAN far upstream element (FUSE) binding protein 3 102 KH 1. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;0.000279) AGATTTCACGGATTCAAGCAG 0.388 7 58 --- --- --- --- PASS FUBP3 8939 broad.mit.edu 37 9 133501800 133501800 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr9:133501800G>T uc004bzr.1 + 12 1133 c.1025G>T c.(1024-1026)GGC>GTC p.G342V FUBP3_uc004bzs.1_Missense_Mutation_p.G255V NM_003934 NP_003925 Q96I24 FUBP3_HUMAN far upstream element (FUSE) binding protein 3 342 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;0.000279) AGAGGTCGTGGCCGTGGCGAC 0.607 OREG0019546 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 24 --- --- --- --- PASS LAMC3 10319 broad.mit.edu 37 9 133901760 133901760 + Missense_Mutation SNP C A A rs147423784 TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr9:133901760C>A uc004caa.1 + 2 560 c.462C>A c.(460-462)GAC>GAA p.D154E NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 154 Laminin N-terminal. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) GCCGCGCCGACGGCCCATGGG 0.652 8 69 --- --- --- --- PASS ITIH5 80760 broad.mit.edu 37 10 7683937 7683937 + Silent SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr10:7683937C>T uc001ijq.2 - 3 331 c.252G>A c.(250-252)GAG>GAA p.E84E ITIH5_uc001ijr.1_Silent_p.E84E NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 84 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 GCATCTGGAACTCAATGTCCT 0.478 15 77 --- --- --- --- PASS GPR158 57512 broad.mit.edu 37 10 25684912 25684912 + Missense_Mutation SNP C A A rs145500194 TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr10:25684912C>A uc001isj.2 + 3 1141 c.1081C>A c.(1081-1083)CCT>ACT p.P361T NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 361 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 ATTCTATCATCCTGGAGTCTT 0.358 7 30 --- --- --- --- PASS GAD2 2572 broad.mit.edu 37 10 26559583 26559583 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr10:26559583C>A uc001isp.2 + 10 1493 c.990C>A c.(988-990)TTC>TTA p.F330L GAD2_uc001isq.2_Missense_Mutation_p.F330L NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 330 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) TTGTTCCTTTCCTCGTGAGTG 0.463 29 179 --- --- --- --- PASS ZNF33A 7581 broad.mit.edu 37 10 38344909 38344909 + Nonsense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr10:38344909C>A uc001izh.2 + 5 2032 c.1854C>A c.(1852-1854)TAC>TAA p.Y618* ZNF33A_uc001izg.2_Nonsense_Mutation_p.Y619*|ZNF33A_uc010qev.1_Nonsense_Mutation_p.Y625*|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 618 C2H2-type 11. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 AAGCCTTCTACCAGAAGTCAC 0.368 10 86 --- --- --- --- PASS PRKG1 5592 broad.mit.edu 37 10 54031115 54031115 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr10:54031115G>T uc001jjm.2 + 11 1328 c.1134G>T c.(1132-1134)CAG>CAT p.Q378H PRKG1_uc001jjo.2_Missense_Mutation_p.Q393H|PRKG1_uc009xow.1_Missense_Mutation_p.Q96H|uc001jjq.1_Intron NM_001098512 NP_001091982 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I isoform 378 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1) 6 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) TTAAGGTCCAGTTGAAAAGTG 0.408 13 38 --- --- --- --- PASS CTNNA3 29119 broad.mit.edu 37 10 68139060 68139060 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr10:68139060G>T uc009xpn.1 - 12 1705 c.1582C>A c.(1582-1584)CAG>AAG p.Q528K CTNNA3_uc001jmw.2_Missense_Mutation_p.Q528K NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 528 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 TCAGCATCCTGGTCTCTTAAG 0.443 16 115 --- --- --- --- PASS PDZD7 79955 broad.mit.edu 37 10 102782143 102782143 + Splice_Site SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr10:102782143C>A uc001kso.1 - 5 758 c.543_splice c.e5-1 p.W181_splice PDZD7_uc001ksn.2_Splice_Site_p.W181_splice NM_024895 NP_079171 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 cilium|nucleus protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) CACATCCACCCTGGACAACAG 0.612 11 23 --- --- --- --- PASS ABLIM1 3983 broad.mit.edu 37 10 116335269 116335269 + Missense_Mutation SNP G A A rs147888427 TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr10:116335269G>A uc010qsg.1 - 3 568 c.469C>T c.(469-471)CGC>TGC p.R157C ABLIM1_uc010qsh.1_Missense_Mutation_p.R97C|ABLIM1_uc010qsi.1_Missense_Mutation_p.R97C|ABLIM1_uc010qsk.1_Missense_Mutation_p.R81C|ABLIM1_uc009xyp.2_Missense_Mutation_p.R91C|ABLIM1_uc009xyo.2_Missense_Mutation_p.R5C NM_002313 NP_002304 O14639 ABLM1_HUMAN actin-binding LIM protein 1 isoform a 157 LIM zinc-binding 2. axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(1) 1 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) CCATGGCAGCGTGTCCCGTAC 0.542 16 90 --- --- --- --- PASS VENTX 27287 broad.mit.edu 37 10 135053746 135053746 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr10:135053746G>T uc010quy.1 + 3 724 c.713G>T c.(712-714)GGA>GTA p.G238V NM_014468 NP_055283 O95231 VENTX_HUMAN VENT homeobox 238 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05) CCTTCGCTGGGACCAGCCCTG 0.682 7 20 --- --- --- --- PASS TUBGCP2 10844 broad.mit.edu 37 10 135095829 135095829 + Missense_Mutation SNP C G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr10:135095829C>G uc001lmg.1 - 16 2664 c.2307G>C c.(2305-2307)ATG>ATC p.M769I TUBGCP2_uc001lmf.1_Missense_Mutation_p.M362I|TUBGCP2_uc010qvc.1_Missense_Mutation_p.M797I|TUBGCP2_uc009ybk.1_Missense_Mutation_p.M792I|TUBGCP2_uc010qvd.1_Missense_Mutation_p.M639I|TUBGCP2_uc001lmh.1_RNA NM_006659 NP_006650 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 769 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) CATCTAATTTCATGCTCTGTG 0.582 8 25 --- --- --- --- PASS TNNT3 7140 broad.mit.edu 37 11 1950353 1950353 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr11:1950353C>A uc001luu.3 + 7 298 c.86C>A c.(85-87)ACC>AAC p.T29N TNNT3_uc001lun.2_Intron|TNNT3_uc001luw.3_Intron|TNNT3_uc001luo.3_Intron|TNNT3_uc001lup.3_Intron|TNNT3_uc001luq.3_Intron|TNNT3_uc001lur.2_Intron|TNNT3_uc010qxf.1_Intron|TNNT3_uc010qxg.1_Intron|TNNT3_uc001lut.1_RNA|TNNT3_uc001lus.1_Intron NM_006757 NP_006748 P45378 TNNT3_HUMAN troponin T3, skeletal, fast isoform 1 40 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding ovary(1) 1 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) CTGGAAGACACCGCAGAGGAG 0.672 36 120 --- --- --- --- PASS ARNTL 406 broad.mit.edu 37 11 13397284 13397284 + Missense_Mutation SNP A G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr11:13397284A>G uc001mkr.2 + 15 1708 c.1300A>G c.(1300-1302)ATT>GTT p.I434V ARNTL_uc001mko.2_Missense_Mutation_p.I390V|ARNTL_uc001mkp.2_Missense_Mutation_p.I433V|ARNTL_uc001mkq.2_Missense_Mutation_p.I433V|ARNTL_uc001mks.2_Missense_Mutation_p.I391V|ARNTL_uc001mkt.2_Missense_Mutation_p.I434V|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Missense_Mutation_p.I273V|ARNTL_uc001mkw.2_Missense_Mutation_p.I391V|ARNTL_uc001mkx.2_Missense_Mutation_p.I432V|ARNTL_uc001mky.2_Translation_Start_Site NM_001178 NP_001169 O00327 BMAL1_HUMAN aryl hydrocarbon receptor nuclear 434 PAC. circadian rhythm|positive regulation of transcription from RNA polymerase II promoter transcription factor complex aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity 0 Epithelial(150;0.0243) AGTAGAATATATTGTCTCAAC 0.383 8 31 --- --- --- --- PASS OR8I2 120586 broad.mit.edu 37 11 55861580 55861580 + Nonsense_Mutation SNP C A A rs116327084 byFrequency TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr11:55861580C>A uc010rix.1 + 1 797 c.797C>A c.(796-798)TCG>TAG p.S266* NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 266 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) AACACATCATCGCTGACCCAG 0.463 27 80 --- --- --- --- PASS YPEL4 219539 broad.mit.edu 37 11 57413813 57413813 + Missense_Mutation SNP T A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr11:57413813T>A uc001nkv.3 - 4 695 c.251A>T c.(250-252)GAC>GTC p.D84V uc001nkt.1_Intron|YPEL4_uc009ymk.2_RNA NM_145008 NP_659445 Q96NS1 YPEL4_HUMAN yippee-like 4 84 nucleolus 0 ACAGAAAATGTCAGCTACCGA 0.562 7 88 --- --- --- --- PASS OR6Q1 219952 broad.mit.edu 37 11 57799282 57799282 + Silent SNP G C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr11:57799282G>C uc010rjz.1 + 1 858 c.858G>C c.(856-858)ACG>ACC p.T286T OR9Q1_uc001nmj.2_Intron NM_001005186 NP_001005186 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, 286 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1) 1 Breast(21;0.0707)|all_epithelial(135;0.142) CTGTTGTCACGCCCATGCTCA 0.473 25 193 --- --- --- --- PASS EML3 256364 broad.mit.edu 37 11 62376917 62376917 + Missense_Mutation SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr11:62376917G>A uc001ntu.1 - 6 975 c.667C>T c.(667-669)CGC>TGC p.R223C EML3_uc001ntr.1_Missense_Mutation_p.R195C|EML3_uc001nts.1_Missense_Mutation_p.R195C|EML3_uc001ntt.1_Missense_Mutation_p.R107C|EML3_uc010rly.1_Missense_Mutation_p.R223C|EML3_uc009yny.1_Missense_Mutation_p.R6C NM_153265 NP_694997 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 223 cytoplasm|microtubule protein binding ovary(1) 1 GTAATGGGGCGCCCTCGAAGG 0.582 21 104 --- --- --- --- PASS HNRNPUL2 221092 broad.mit.edu 37 11 62487535 62487535 + Silent SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr11:62487535C>T uc001nuw.2 - 10 1933 c.1740G>A c.(1738-1740)GAG>GAA p.E580E HNRNPUL2_uc001nuu.1_RNA NM_001079559 NP_001073027 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 580 cell killing nucleus ATP binding|nucleic acid binding 0 CATCATCTCCCTCTACTTCCT 0.348 6 224 --- --- --- --- PASS IGHMBP2 3508 broad.mit.edu 37 11 68675734 68675734 + Missense_Mutation SNP G C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr11:68675734G>C uc001ook.1 + 3 480 c.378G>C c.(376-378)TTG>TTC p.L126F IGHMBP2_uc001ooj.1_RNA NM_002180 NP_002171 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 126 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) ATTTCCAGTTGAGCTTGGACC 0.502 21 117 --- --- --- --- PASS IGHMBP2 3508 broad.mit.edu 37 11 68705714 68705714 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr11:68705714G>T uc001ook.1 + 14 2778 c.2676G>T c.(2674-2676)AAG>AAT p.K892N IGHMBP2_uc001ool.1_Missense_Mutation_p.K516N NM_002180 NP_002171 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 892 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CCGCCGTTAAGGCTGATAACA 0.627 26 72 --- --- --- --- PASS P2RY2 5029 broad.mit.edu 37 11 72946147 72946147 + Missense_Mutation SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr11:72946147C>T uc001otj.2 + 3 1276 c.943C>T c.(943-945)CGC>TGC p.R315C P2RY2_uc001otk.2_Missense_Mutation_p.R315C|P2RY2_uc001otl.2_Missense_Mutation_p.R315C NM_002564 NP_002555 P41231 P2RY2_HUMAN purinergic receptor P2Y2 315 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(1)|skin(1) 4 Suramin(DB04786) GAGGCTCGTACGCTTTGCCCG 0.647 9 48 --- --- --- --- PASS P2RY6 5031 broad.mit.edu 37 11 73007682 73007682 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr11:73007682G>T uc001otm.2 + 4 524 c.119G>T c.(118-120)GGC>GTC p.G40V P2RY6_uc001otn.2_Missense_Mutation_p.G40V|P2RY6_uc001oto.2_Missense_Mutation_p.G40V|P2RY6_uc001otp.2_Missense_Mutation_p.G40V|P2RY6_uc001otq.2_Missense_Mutation_p.G40V|P2RY6_uc001otr.2_Missense_Mutation_p.G40V|P2RY6_uc001ots.2_Missense_Mutation_p.G40V NM_176796 NP_789766 Q15077 P2RY6_HUMAN pyrimidinergic receptor P2Y6 40 Helical; Name=1; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 CTGGCGGCTGGCCTGCCGCTG 0.632 70 180 --- --- --- --- PASS DNAJB13 374407 broad.mit.edu 37 11 73681140 73681140 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr11:73681140G>T uc001ouo.2 + 8 1683 c.932G>T c.(931-933)CGC>CTC p.R311L NM_153614 NP_705842 P59910 DJB13_HUMAN testis spermatogenesis apoptosis-related protein 311 apoptosis|protein folding|spermatogenesis heat shock protein binding|unfolded protein binding 0 Breast(11;7.42e-05) CAGATGCTGCGCCAGGCATTG 0.617 23 108 --- --- --- --- PASS CNTN5 53942 broad.mit.edu 37 11 99715950 99715950 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr11:99715950C>A uc001pga.2 + 6 872 c.533C>A c.(532-534)ACT>AAT p.T178N CNTN5_uc009ywv.1_Missense_Mutation_p.T178N|CNTN5_uc001pfz.2_Missense_Mutation_p.T178N|CNTN5_uc001pgb.2_Missense_Mutation_p.T104N NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 178 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GCAACCAACACTGTGGGGAGT 0.348 24 189 --- --- --- --- PASS MMP1 4312 broad.mit.edu 37 11 102665947 102665947 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr11:102665947G>T uc001phi.2 - 6 1000 c.857C>A c.(856-858)GCT>GAT p.A286D uc001phh.1_RNA|MMP1_uc010ruv.1_Missense_Mutation_p.A220D NM_002421 NP_002412 P03956 MMP1_HUMAN matrix metalloproteinase 1 isoform 1 286 Hemopexin-like 1. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) CGTAGTTATAGCATCAAAGGT 0.408 14 102 --- --- --- --- PASS OR6M1 390261 broad.mit.edu 37 11 123676798 123676798 + Missense_Mutation SNP T G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr11:123676798T>G uc010rzz.1 - 1 260 c.260A>C c.(259-261)GAG>GCG p.E87A NM_001005325 NP_001005325 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, 87 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) TATGGTTTTCTCTTCTCCTAG 0.438 9 59 --- --- --- --- PASS CACNA1C 775 broad.mit.edu 37 12 2693738 2693738 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr12:2693738C>A uc009zdu.1 + 16 2607 c.2294C>A c.(2293-2295)GCC>GAC p.A765D CACNA1C_uc009zdv.1_Missense_Mutation_p.A762D|CACNA1C_uc001qkb.2_Missense_Mutation_p.A765D|CACNA1C_uc001qkc.2_Missense_Mutation_p.A765D|CACNA1C_uc001qke.2_Missense_Mutation_p.A765D|CACNA1C_uc001qkf.2_Missense_Mutation_p.A765D|CACNA1C_uc001qjz.2_Missense_Mutation_p.A765D|CACNA1C_uc001qkd.2_Missense_Mutation_p.A765D|CACNA1C_uc001qkg.2_Missense_Mutation_p.A765D|CACNA1C_uc009zdw.1_Missense_Mutation_p.A765D|CACNA1C_uc001qkh.2_Missense_Mutation_p.A765D|CACNA1C_uc001qkl.2_Missense_Mutation_p.A765D|CACNA1C_uc001qkn.2_Missense_Mutation_p.A765D|CACNA1C_uc001qko.2_Missense_Mutation_p.A765D|CACNA1C_uc001qkp.2_Missense_Mutation_p.A765D|CACNA1C_uc001qkr.2_Missense_Mutation_p.A765D|CACNA1C_uc001qku.2_Missense_Mutation_p.A765D|CACNA1C_uc001qkq.2_Missense_Mutation_p.A765D|CACNA1C_uc001qks.2_Missense_Mutation_p.A765D|CACNA1C_uc001qkt.2_Missense_Mutation_p.A765D|CACNA1C_uc001qka.1_Missense_Mutation_p.A300D|CACNA1C_uc001qki.1_Missense_Mutation_p.A501D|CACNA1C_uc001qkj.1_Missense_Mutation_p.A501D|CACNA1C_uc001qkk.1_Missense_Mutation_p.A501D|CACNA1C_uc001qkm.1_Missense_Mutation_p.A501D|CACNA1C_uc001qkw.2_Missense_Mutation_p.A54D NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 765 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CTCACATCTGCCCaaaaggag 0.433 24 33 --- --- --- --- PASS APOBEC1 339 broad.mit.edu 37 12 7805379 7805379 + Missense_Mutation SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr12:7805379G>A uc001qtb.2 - 3 131 c.97C>T c.(97-99)CGT>TGT p.R33C APOBEC1_uc001qtc.2_5'UTR|APOBEC1_uc010sgf.1_Missense_Mutation_p.R33C NM_001644 NP_001635 P41238 ABEC1_HUMAN apolipoprotein B mRNA editing enzyme 33 cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm cytidine deaminase activity|RNA binding|zinc ion binding 0 GCCTCTTTACGAAGTTCTCTG 0.473 16 93 --- --- --- --- PASS KLRC3 3823 broad.mit.edu 37 12 10568344 10568344 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr12:10568344G>T uc001qyf.2 - 6 682 c.637C>A c.(637-639)CGT>AGT p.R213S KLRC3_uc001qyh.2_Missense_Mutation_p.R213S|KLRC3_uc001qyi.1_Missense_Mutation_p.R213S NM_002261 NP_002252 Q07444 NKG2E_HUMAN killer cell lectin-like receptor subfamily C, 213 C-type lectin.|Extracellular (Potential). cellular defense response integral to membrane sugar binding|transmembrane receptor activity ovary(2)|skin(1) 3 ATAAGTCCACGTACATGTAGC 0.363 36 42 --- --- --- --- PASS PDZRN4 29951 broad.mit.edu 37 12 41967075 41967075 + Missense_Mutation SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr12:41967075C>T uc010skn.1 + 10 1965 c.1897C>T c.(1897-1899)CCT>TCT p.P633S PDZRN4_uc001rmq.3_Missense_Mutation_p.P574S|PDZRN4_uc009zjz.2_Missense_Mutation_p.P572S|PDZRN4_uc001rmr.2_Missense_Mutation_p.P459S NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 832 ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TTACCTCTCTCCTTACCACAG 0.468 45 122 --- --- --- --- PASS TMEM117 84216 broad.mit.edu 37 12 44770376 44770376 + Splice_Site SNP A G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr12:44770376A>G uc001rod.2 + 7 835 c.769_splice c.e7-2 p.D257_splice TMEM117_uc001roe.2_Splice_Site_p.D153_splice|TMEM117_uc009zkc.2_Intron NM_032256 NP_115632 Q9H0C3 TM117_HUMAN transmembrane protein 117 endoplasmic reticulum|integral to membrane 0 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) TTTCTCTGACAGGACTGGGAA 0.353 20 100 --- --- --- --- PASS TMEM117 84216 broad.mit.edu 37 12 44770378 44770378 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr12:44770378G>T uc001rod.2 + 7 835 c.769G>T c.(769-771)GAC>TAC p.D257Y TMEM117_uc001roe.2_Missense_Mutation_p.D153Y|TMEM117_uc009zkc.2_Intron NM_032256 NP_115632 Q9H0C3 TM117_HUMAN transmembrane protein 117 257 Helical; (Potential). endoplasmic reticulum|integral to membrane 0 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) TCTCTGACAGGACTGGGAATT 0.353 21 100 --- --- --- --- PASS ARID2 196528 broad.mit.edu 37 12 46243515 46243515 + Missense_Mutation SNP G T T rs150280339 TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr12:46243515G>T uc001ros.1 + 14 1868 c.1868G>T c.(1867-1869)CGT>CTT p.R623L ARID2_uc001ror.2_Missense_Mutation_p.R623L|ARID2_uc009zkg.1_Missense_Mutation_p.R79L|ARID2_uc009zkh.1_Missense_Mutation_p.R250L|ARID2_uc001rou.1_5'Flank NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 623 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TCTGTTGTTCGTGTTGATTCT 0.383 43 134 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49441822 49441822 + Missense_Mutation SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr12:49441822G>A uc001rta.3 - 14 4162 c.4162C>T c.(4162-4164)CGG>TGG p.R1388W NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1388 PHD-type 3. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TCTGCCCCCCGGCCAAAGCTG 0.547 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 14 81 --- --- --- --- PASS TIMELESS 8914 broad.mit.edu 37 12 56815268 56815268 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr12:56815268C>A uc001slf.2 - 23 2903 c.2735G>T c.(2734-2736)GGT>GTT p.G912V NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 912 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 CATGATATGACCCAGGACATC 0.478 14 128 --- --- --- --- PASS KIF5A 3798 broad.mit.edu 37 12 57969023 57969023 + Nonsense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr12:57969023G>T uc001sor.1 + 16 2081 c.1873G>T c.(1873-1875)GAG>TAG p.E625* KIF5A_uc010srr.1_Nonsense_Mutation_p.E536* NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 625 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 GACCGGGCGGGAGCTCTCATC 0.542 10 25 --- --- --- --- PASS KCNC2 3747 broad.mit.edu 37 12 75444822 75444822 + Silent SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr12:75444822C>A uc001sxg.1 - 3 1507 c.963G>T c.(961-963)GTG>GTT p.V321V KCNC2_uc009zry.2_Silent_p.V321V|KCNC2_uc001sxe.2_Silent_p.V321V|KCNC2_uc001sxf.2_Silent_p.V321V|KCNC2_uc010stw.1_Silent_p.V321V NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 321 Helical; Name=Segment S3; (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(2)|pancreas(2)|skin(1)|lung(1) 6 GTAGGATGGCCACAAAGTCAA 0.408 15 60 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78511901 78511901 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr12:78511901G>T uc001syp.2 + 14 3037 c.2864G>T c.(2863-2865)GGG>GTG p.G955V NAV3_uc001syo.2_Missense_Mutation_p.G955V|NAV3_uc010sub.1_Missense_Mutation_p.G455V|NAV3_uc009zsf.2_5'UTR NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 955 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GACAGCCATGGGGATGCTGGT 0.512 HNSCC(70;0.22) 44 118 --- --- --- --- PASS FGD6 55785 broad.mit.edu 37 12 95535176 95535176 + Missense_Mutation SNP C G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr12:95535176C>G uc001tdp.3 - 6 3049 c.2825G>C c.(2824-2826)AGA>ACA p.R942T FGD6_uc009zsx.2_Missense_Mutation_p.R75T NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 942 DH. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|breast(1) 3 GTGCAACATTCTTTCCTCCAG 0.428 5 57 --- --- --- --- PASS TAOK3 51347 broad.mit.edu 37 12 118599636 118599636 + Missense_Mutation SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr12:118599636C>T uc001twx.2 - 18 2391 c.2096G>A c.(2095-2097)AGA>AAA p.R699K TAOK3_uc001twv.2_Missense_Mutation_p.R239K|TAOK3_uc001tww.2_Missense_Mutation_p.R529K|TAOK3_uc001twy.3_Missense_Mutation_p.R699K NM_016281 NP_057365 Q9H2K8 TAOK3_HUMAN TAO kinase 3 699 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) GACATGCTTTCTGTGCAGTTC 0.418 42 206 --- --- --- --- PASS CCDC60 160777 broad.mit.edu 37 12 119978478 119978478 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr12:119978478C>A uc001txe.2 + 14 2076 c.1611C>A c.(1609-1611)AGC>AGA p.S537R uc001txf.2_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 537 ovary(2)|upper_aerodigestive_tract(1) 3 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) GGCTGCAGAGCCGGATCAACA 0.522 30 91 --- --- --- --- PASS TMEM132B 114795 broad.mit.edu 37 12 126068503 126068503 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr12:126068503C>A uc001uhe.1 + 5 1393 c.1385C>A c.(1384-1386)TCT>TAT p.S462Y NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 462 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GTGTCTGAGTCTGTGGAATGC 0.478 81 212 --- --- --- --- PASS ZMYM5 9205 broad.mit.edu 37 13 20413041 20413041 + Missense_Mutation SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr13:20413041C>T uc010tcn.1 - 5 936 c.671G>A c.(670-672)CGT>CAT p.R224H ZMYM5_uc001umm.1_Missense_Mutation_p.R48H|ZMYM5_uc001umn.2_Missense_Mutation_p.R224H|ZMYM5_uc001umo.2_Intron NM_001142684 NP_001136156 Q9UJ78 ZMYM5_HUMAN zinc finger protein 237 isoform 3 224 nucleus zinc ion binding 0 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) ATTCTGCTTACGAAGTAAGGC 0.418 6 215 --- --- --- --- PASS BRCA2 675 broad.mit.edu 37 13 32915254 32915254 + Silent SNP T C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr13:32915254T>C uc001uub.1 + 11 6989 c.6762T>C c.(6760-6762)TTT>TTC p.F2254F NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2254 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) ATTCTCTTTTTACATGTCCCG 0.363 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) 49 120 --- --- --- --- PASS OR4N5 390437 broad.mit.edu 37 14 20612691 20612691 + Missense_Mutation SNP C G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr14:20612691C>G uc010tla.1 + 1 797 c.797C>G c.(796-798)CCA>CGA p.P266R NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, 266 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) CAGGCTTTCCCAGCTGACAAG 0.428 51 179 --- --- --- --- PASS CHD8 57680 broad.mit.edu 37 14 21894357 21894357 + Missense_Mutation SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr14:21894357G>A uc001was.1 - 5 903 c.809C>T c.(808-810)TCA>TTA p.S270L CHD8_uc001war.1_Missense_Mutation_p.S166L NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 549 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) ATTATCAGATGAGGTATTACG 0.373 8 23 --- --- --- --- PASS KHNYN 23351 broad.mit.edu 37 14 24901069 24901069 + Missense_Mutation SNP A C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr14:24901069A>C uc001wph.3 + 3 804 c.602A>C c.(601-603)CAG>CCG p.Q201P KHNYN_uc010tpc.1_Missense_Mutation_p.Q242P|KHNYN_uc010alw.2_Missense_Mutation_p.Q201P|CBLN3_uc001wpg.3_5'Flank NM_015299 NP_056114 O15037 KHNYN_HUMAN hypothetical protein LOC23351 201 ovary(2)|liver(1) 3 TCTAGTGGGCAGGGGCCAGGA 0.657 OREG0022627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 86 --- --- --- --- PASS C14orf101 54916 broad.mit.edu 37 14 57114058 57114058 + Missense_Mutation SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr14:57114058G>A uc001xcm.2 + 16 2089 c.1967G>A c.(1966-1968)AGA>AAA p.R656K C14orf101_uc001xcj.2_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_Missense_Mutation_p.R189K|C14orf101_uc001xco.2_Missense_Mutation_p.R189K NM_017799 NP_060269 Q9NX78 CN101_HUMAN hypothetical protein LOC54916 656 integral to membrane breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(311;0.226) CTTCAGGCAAGAGATGCAGAT 0.458 8 48 --- --- --- --- PASS HIF1A 3091 broad.mit.edu 37 14 62187261 62187261 + Missense_Mutation SNP A G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr14:62187261A>G uc001xfq.2 + 2 601 c.197A>G c.(196-198)TAT>TGT p.Y66C HIF1A_uc010tsc.1_Intron|HIF1A_uc001xfr.2_Missense_Mutation_p.Y66C|HIF1A_uc001xfs.2_Missense_Mutation_p.Y67C NM_001530 NP_001521 Q16665 HIF1A_HUMAN hypoxia-inducible factor 1, alpha subunit 66 Interaction with TSGA10 (By similarity).|Helix-loop-helix motif. cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production cytoplasm|nucleolus|transcription factor complex histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding kidney(3)|lung(1) 4 OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189) ACCATCAGCTATTTGCGTGTG 0.373 18 70 --- --- --- --- PASS TMEM229B 161145 broad.mit.edu 37 14 67940583 67940583 + Missense_Mutation SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr14:67940583C>T uc001xjk.2 - 3 468 c.58G>A c.(58-60)GGC>AGC p.G20S TMEM229B_uc001xjj.1_RNA NM_182526 NP_872332 Q8NBD8 T229B_HUMAN transmembrane protein 229B 20 Helical; (Potential). integral to membrane central_nervous_system(1) 1 CAGAAGTAGCCGTGGATGGCA 0.642 14 25 --- --- --- --- PASS FLRT2 23768 broad.mit.edu 37 14 86089392 86089392 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr14:86089392G>T uc001xvr.2 + 2 2301 c.1534G>T c.(1534-1536)GCC>TCC p.A512S FLRT2_uc010atd.2_Missense_Mutation_p.A512S NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 512 Extracellular (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) TTGTTCAGAGGCCACCACCCA 0.562 41 100 --- --- --- --- PASS TTC7B 145567 broad.mit.edu 37 14 91059951 91059951 + Silent SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr14:91059951C>A uc001xyp.2 - 18 2108 c.1986G>T c.(1984-1986)TCG>TCT p.S662S TTC7B_uc001xyo.2_Silent_p.S106S|TTC7B_uc010ats.2_RNA NM_001010854 NP_001010854 Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 662 binding ovary(2) 2 Melanoma(154;0.222) AGGCTGCTACCGATGTGGCAT 0.582 25 50 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102471151 102471151 + Nonsense_Mutation SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr14:102471151G>A uc001yks.2 + 25 5266 c.5102G>A c.(5101-5103)TGG>TAG p.W1701* NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 1701 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 ATCAATGAGTGGCTCACATTG 0.373 4 42 --- --- --- --- PASS KIF26A 26153 broad.mit.edu 37 14 104638965 104638965 + Silent SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr14:104638965G>T uc001yos.3 + 7 1380 c.1380G>T c.(1378-1380)GGG>GGT p.G460G NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN kinesin family member 26A 460 Kinesin-motor. blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity pancreas(1) 1 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) TGGTCAGTGGGGCTGATGGCT 0.632 8 29 --- --- --- --- PASS GOLGA8E 390535 broad.mit.edu 37 15 23445400 23445400 + Missense_Mutation SNP T A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr15:23445400T>A uc001yvu.2 + 18 2220 c.1231T>A c.(1231-1233)TTG>ATG p.L411M uc001yvx.2_5'Flank NM_001012423 NP_001012423 golgi autoantigen, golgin subfamily a, 8E skin(1) 1 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;5.21e-07)|Epithelial(43;5.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.000614) GCACCCAGGCTTGGGCAGCAA 0.552 23 111 --- --- --- --- PASS STRC 161497 broad.mit.edu 37 15 43896213 43896213 + Silent SNP T A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr15:43896213T>A uc001zsf.2 - 22 4434 c.4356A>T c.(4354-4356)CCA>CCT p.P1452P STRC_uc010bdl.2_Silent_p.P679P|STRC_uc001zse.2_5'UTR NM_153700 NP_714544 Q7RTU9 STRC_HUMAN stereocilin precursor 1452 sensory perception of sound cell surface 0 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) CCTCAGCAGCTGGTCGCACCA 0.517 16 48 --- --- --- --- PASS MAPK6 5597 broad.mit.edu 37 15 52353666 52353666 + Nonsense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr15:52353666G>T uc002abp.2 + 5 1830 c.1036G>T c.(1036-1038)GAA>TAA p.E346* NM_002748 NP_002739 Q16659 MK06_HUMAN mitogen-activated protein kinase 6 346 cell cycle ATP binding|MAP kinase activity lung(3)|ovary(1) 4 all cancers(107;0.0028) GCTTATGGATGAAACTCACAG 0.318 16 27 --- --- --- --- PASS PSTPIP1 9051 broad.mit.edu 37 15 77310525 77310525 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr15:77310525C>A uc002bcf.2 + 2 523 c.73C>A c.(73-75)CTG>ATG p.L25M PSTPIP1_uc010bkt.1_RNA|PSTPIP1_uc010umo.1_Translation_Start_Site|PSTPIP1_uc010bku.1_Missense_Mutation_p.L16M|PSTPIP1_uc002bcg.2_Missense_Mutation_p.L25M|PSTPIP1_uc010bkv.1_RNA|PSTPIP1_uc010bkw.1_Missense_Mutation_p.L25M NM_003978 NP_003969 O43586 PPIP1_HUMAN proline-serine-threonine phosphatase interacting 25 FCH. cell adhesion|signal transduction cleavage furrow|lamellipodium|perinuclear region of cytoplasm catalytic activity ovary(1) 1 CTACGAGGTGCTGCTGCAGCG 0.622 4 3 --- --- --- --- PASS CACNA1H 8912 broad.mit.edu 37 16 1254227 1254227 + Missense_Mutation SNP G C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr16:1254227G>C uc002cks.2 + 10 2468 c.2220G>C c.(2218-2220)TGG>TGC p.W740C CACNA1H_uc002ckt.2_Missense_Mutation_p.W740C NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 740 Cytoplasmic (Potential). aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(2) 2 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GTGACCGCTGGGACCCCACGC 0.711 5 19 --- --- --- --- PASS ABCA3 21 broad.mit.edu 37 16 2353971 2353971 + Missense_Mutation SNP A G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr16:2353971A>G uc002cpy.1 - 12 2178 c.1466T>C c.(1465-1467)ATG>ACG p.M489T ABCA3_uc010bsk.1_Missense_Mutation_p.M431T|ABCA3_uc010bsl.1_Missense_Mutation_p.M489T NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 489 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) AGAACTCACCATGATGAAGAA 0.612 11 40 --- --- --- --- PASS A2BP1 54715 broad.mit.edu 37 16 7568315 7568315 + Missense_Mutation SNP T C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr16:7568315T>C uc002cys.2 + 5 1182 c.194T>C c.(193-195)CTG>CCG p.L65P A2BP1_uc010buf.1_Missense_Mutation_p.L65P|A2BP1_uc002cyr.1_Missense_Mutation_p.L65P|A2BP1_uc002cyt.2_Missense_Mutation_p.L65P|A2BP1_uc010uxz.1_Missense_Mutation_p.L108P|A2BP1_uc010uya.1_Missense_Mutation_p.L101P|A2BP1_uc002cyv.1_Missense_Mutation_p.L65P|A2BP1_uc010uyb.1_Missense_Mutation_p.L65P|A2BP1_uc002cyw.2_Missense_Mutation_p.L85P|A2BP1_uc002cyy.2_Missense_Mutation_p.L85P|A2BP1_uc002cyx.2_Missense_Mutation_p.L85P|A2BP1_uc010uyc.1_Missense_Mutation_p.L85P NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 65 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) ACATTAAACCTGTACCCTCCC 0.657 31 152 --- --- --- --- PASS IQCK 124152 broad.mit.edu 37 16 19741816 19741816 + Silent SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr16:19741816G>T uc002dgr.2 + 3 945 c.246G>T c.(244-246)ACG>ACT p.T82T IQCK_uc002dgs.2_RNA|IQCK_uc010vat.1_Silent_p.T82T|IQCK_uc010bwc.2_RNA|IQCK_uc010vau.1_Intron NM_153208 NP_694940 Q8N0W5 IQCK_HUMAN IQ motif containing K 82 skin(1) 1 CTGTGATTACGGTGAGTATTA 0.443 24 52 --- --- --- --- PASS ACSM2A 123876 broad.mit.edu 37 16 20492174 20492174 + Missense_Mutation SNP T G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr16:20492174T>G uc010bwe.2 + 13 1679 c.1440T>G c.(1438-1440)AAT>AAG p.N480K ACSM2A_uc010vax.1_Missense_Mutation_p.N401K|ACSM2A_uc002dhf.3_Missense_Mutation_p.N480K|ACSM2A_uc002dhg.3_Missense_Mutation_p.N480K|ACSM2A_uc010vay.1_Missense_Mutation_p.N401K|ACSM2A_uc002dhh.3_Missense_Mutation_p.N110K NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 480 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 AGGTAGAGAATGCACTGATGG 0.582 22 89 --- --- --- --- PASS VWA3A 146177 broad.mit.edu 37 16 22134943 22134943 + Missense_Mutation SNP A T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr16:22134943A>T uc010vbq.1 + 16 1543 c.1447A>T c.(1447-1449)AGC>TGC p.S483C VWA3A_uc010bxd.2_RNA|VWA3A_uc010bxc.2_Missense_Mutation_p.S491C NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 483 extracellular region skin(1) 1 GBM - Glioblastoma multiforme(48;0.0439) GCAACAGCTCAGCAGAGCTAT 0.562 27 118 --- --- --- --- PASS ERN2 10595 broad.mit.edu 37 16 23703384 23703384 + Missense_Mutation SNP C G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr16:23703384C>G uc002dma.3 - 19 2589 c.2420G>C c.(2419-2421)GGA>GCA p.G807A ERN2_uc010bxp.2_Missense_Mutation_p.G755A NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signalling 2 759 Protein kinase.|Cytoplasmic (Potential). G -> A (in Ref. 1; BAB21297). apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) CAACATGGCTCCAACCAGGTC 0.632 73 186 --- --- --- --- PASS ABCC11 85320 broad.mit.edu 37 16 48249217 48249217 + Silent SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr16:48249217G>A uc002eff.1 - 7 1340 c.990C>T c.(988-990)CAC>CAT p.H330H ABCC11_uc002efg.1_Silent_p.H330H|ABCC11_uc002efh.1_Silent_p.H330H|ABCC11_uc010vgk.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 330 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CCTCAGATGTGTGATGCTGAG 0.468 Cerumen_Type 21 58 --- --- --- --- PASS LONP2 83752 broad.mit.edu 37 16 48304001 48304001 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr16:48304001G>T uc002efi.1 + 7 1146 c.1057G>T c.(1057-1059)GTA>TTA p.V353L LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.V309L NM_031490 NP_113678 Q86WA8 LONP2_HUMAN peroxisomal LON protease-like 353 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity 0 GAAGAAAAGAGTACTGGAATA 0.448 22 63 --- --- --- --- PASS ZNF423 23090 broad.mit.edu 37 16 49764751 49764751 + Missense_Mutation SNP C A A rs149531360 TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr16:49764751C>A uc002efs.2 - 4 506 c.208G>T c.(208-210)GAT>TAT p.D70Y NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 70 C2H2-type 1; degenerate. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) TGACAGTGATCGCAGGTGTAA 0.542 61 168 --- --- --- --- PASS NOD2 64127 broad.mit.edu 37 16 50745745 50745745 + Silent SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr16:50745745C>A uc002egm.1 + 4 2028 c.1923C>A c.(1921-1923)GCC>GCA p.A641A NOD2_uc010cbk.1_Silent_p.A614A|NOD2_uc002egl.1_Silent_p.A419A|NOD2_uc010cbl.1_Silent_p.A419A|NOD2_uc010cbm.1_Silent_p.A419A|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 641 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) CACCAATGGCCAGGCTCCTGC 0.592 19 57 --- --- --- --- PASS LPCAT2 54947 broad.mit.edu 37 16 55579725 55579725 + Missense_Mutation SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr16:55579725G>A uc002eie.3 + 9 1112 c.931G>A c.(931-933)GCA>ACA p.A311T LPCAT2_uc002eic.2_Missense_Mutation_p.A41T NM_017839 NP_060309 Q7L5N7 PCAT2_HUMAN lysophosphatidylcholine acyltransferase 2 311 Lumenal (Potential). cellular membrane organization|platelet activating factor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding 0 GAATTTAATGGCAGAGTAAGT 0.299 23 73 --- --- --- --- PASS SLC9A5 6553 broad.mit.edu 37 16 67289690 67289690 + Silent SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr16:67289690C>T uc002esm.2 + 5 831 c.768C>T c.(766-768)GCC>GCT p.A256A SLC9A5_uc010cee.2_5'UTR|SLC9A5_uc010vji.1_Intron NM_004594 NP_004585 Q14940 SL9A5_HUMAN solute carrier family 9 (sodium/hydrogen 256 Helical; (Potential). regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity ovary(1)|pancreas(1) 2 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) GCGGGGCAGCCGTGGGCTTAG 0.652 6 12 --- --- --- --- PASS ZFP90 146198 broad.mit.edu 37 16 68597569 68597569 + Silent SNP T C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr16:68597569T>C uc010cff.2 + 5 1171 c.879T>C c.(877-879)CAT>CAC p.H293H ZFP90_uc002ewb.2_Missense_Mutation_p.I99T|ZFP90_uc002ewc.2_Missense_Mutation_p.I99T|ZFP90_uc002ewd.2_Silent_p.H293H|ZFP90_uc002ewe.2_Silent_p.H293H NM_133458 NP_597715 Q8TF47 ZFP90_HUMAN zinc finger protein 90 293 C2H2-type 3. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) CCTTCAGGCATAGCTCATCTC 0.488 16 93 --- --- --- --- PASS ZFP90 146198 broad.mit.edu 37 16 68598059 68598059 + Nonsense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr16:68598059G>T uc010cff.2 + 5 1661 c.1369G>T c.(1369-1371)GAA>TAA p.E457* ZFP90_uc002ewb.2_3'UTR|ZFP90_uc002ewc.2_3'UTR|ZFP90_uc002ewd.2_Nonsense_Mutation_p.E457*|ZFP90_uc002ewe.2_Nonsense_Mutation_p.E457* NM_133458 NP_597715 Q8TF47 ZFP90_HUMAN zinc finger protein 90 457 C2H2-type 8. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) TGACTGTGGGGAAGACTTTAG 0.423 31 100 --- --- --- --- PASS CNTNAP4 85445 broad.mit.edu 37 16 76501369 76501369 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr16:76501369C>A uc002feu.1 + 12 1989 c.1604C>A c.(1603-1605)TCC>TAC p.S535Y CNTNAP4_uc002fev.1_Missense_Mutation_p.S399Y|CNTNAP4_uc010chb.1_Missense_Mutation_p.S462Y|CNTNAP4_uc002fex.1_Missense_Mutation_p.S538Y|CNTNAP4_uc002few.2_Missense_Mutation_p.S510Y NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 535 Extracellular (Potential).|Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 CAGCAGGGGTCCCTTGGGAAC 0.453 11 50 --- --- --- --- PASS ENO3 2027 broad.mit.edu 37 17 4860153 4860153 + Missense_Mutation SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr17:4860153G>A uc002gab.3 + 11 1298 c.1204G>A c.(1204-1206)GAG>AAG p.E402K ENO3_uc002gac.3_Missense_Mutation_p.E402K|ENO3_uc010vss.1_Missense_Mutation_p.E359K|ENO3_uc010vst.1_Missense_Mutation_p.E229K NM_053013 NP_443739 P13929 ENOB_HUMAN enolase 3 402 gluconeogenesis|glycolysis phosphopyruvate hydratase complex magnesium ion binding|phosphopyruvate hydratase activity ovary(1) 1 CTGCCGCTCGGAGCGTCTGGC 0.592 OREG0024110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 48 134 --- --- --- --- PASS ALOXE3 59344 broad.mit.edu 37 17 8018962 8018962 + Missense_Mutation SNP T C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr17:8018962T>C uc010cnr.2 - 4 767 c.397A>G c.(397-399)AGG>GGG p.R133G ALOXE3_uc002gka.2_Missense_Mutation_p.R289G|ALOXE3_uc010vuo.1_Missense_Mutation_p.R265G|ALOXE3_uc010vup.1_RNA NM_021628 NP_067641 Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 isoform 2 133 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity skin(3)|lung(1)|central_nervous_system(1) 5 TCCCGTGTCCTGTGATCCAGG 0.473 3 84 --- --- --- --- PASS MYH8 4626 broad.mit.edu 37 17 10297598 10297598 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr17:10297598C>A uc002gmm.2 - 35 5229 c.5134G>T c.(5134-5136)GCC>TCC p.A1712S uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1712 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 CGCTCACTGGCATCCAGGAGC 0.542 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 29 61 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10443973 10443973 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr17:10443973C>A uc010coi.2 - 11 1074 c.946G>T c.(946-948)GTC>TTC p.V316F uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.V316F|MYH2_uc010coj.2_Missense_Mutation_p.V316F NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 316 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CCTTGACTGACAAATGGGTAA 0.378 23 55 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11837356 11837356 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr17:11837356C>A uc002gne.2 + 65 12525 c.12457C>A c.(12457-12459)CCA>ACA p.P4153T DNAH9_uc010coo.2_Missense_Mutation_p.P3371T|DNAH9_uc002gnf.2_Missense_Mutation_p.P465T NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 4153 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GTTCCCACTCCCAGGCAACAT 0.532 40 99 --- --- --- --- PASS SARM1 23098 broad.mit.edu 37 17 26708234 26708234 + Silent SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr17:26708234G>T uc010crl.1 + 5 550 c.483G>T c.(481-483)GCG>GCT p.A161A SARM1_uc010wah.1_Missense_Mutation_p.A182S|SARM1_uc010waj.1_RNA NM_015077 NP_055892 Q6SZW1 SARM1_HUMAN sterile alpha and TIR motif containing 1 161 innate immune response cytoplasm|intrinsic to membrane binding|transmembrane receptor activity 0 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) ACCGCGTGGCGCGCATTGGGC 0.612 3 15 --- --- --- --- PASS PNMT 5409 broad.mit.edu 37 17 37825907 37825907 + Silent SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr17:37825907C>T uc002hsi.1 + 2 450 c.228C>T c.(226-228)ATC>ATT p.I76I NM_002686 NP_002677 P11086 PNMT_HUMAN phenylethanolamine N-methyltransferase 76 catecholamine biosynthetic process|hormone biosynthetic process cytosol phenylethanolamine N-methyltransferase activity ovary(1) 1 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GCACCCTCATCGACATTGGTT 0.632 7 52 --- --- --- --- PASS GPATCH8 23131 broad.mit.edu 37 17 42476454 42476454 + Missense_Mutation SNP C G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr17:42476454C>G uc002igw.1 - 8 3055 c.2991G>C c.(2989-2991)AGG>AGC p.R997S GPATCH8_uc002igv.1_Missense_Mutation_p.R919S|GPATCH8_uc010wiz.1_Missense_Mutation_p.R919S NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 997 Ser-rich. intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GGGAAGGGCTCCTGGTGCTGC 0.602 3 36 --- --- --- --- PASS ADAM11 4185 broad.mit.edu 37 17 42849019 42849019 + Missense_Mutation SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr17:42849019C>T uc002ihh.2 + 5 449 c.449C>T c.(448-450)TCC>TTC p.S150F ADAM11_uc010wjd.1_5'UTR NM_002390 NP_002381 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 preproprotein 150 integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding pancreas(1) 1 Prostate(33;0.0959) GCCGCCCTCTCCACCTGCCAG 0.687 9 81 --- --- --- --- PASS FAM117A 81558 broad.mit.edu 37 17 47794918 47794918 + Silent SNP A G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr17:47794918A>G uc002ipk.2 - 6 936 c.867T>C c.(865-867)CAT>CAC p.H289H FAM117A_uc010wlz.1_Silent_p.H17H NM_030802 NP_110429 Q9C073 F117A_HUMAN family with sequence similarity 117, member A 289 ovary(1) 1 CGGCACCCCGATGTTCCTCAT 0.632 4 62 --- --- --- --- PASS TRIM25 7706 broad.mit.edu 37 17 54969297 54969297 + Missense_Mutation SNP A T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr17:54969297A>T uc002iut.2 - 9 1717 c.1657T>A c.(1657-1659)TGG>AGG p.W553R TRIM25_uc010dcj.2_Missense_Mutation_p.W345R NM_005082 NP_005073 Q14258 TRI25_HUMAN tripartite motif-containing 25 553 B30.2/SPRY. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus cell junction|cytosol|nucleus sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding lung(1)|breast(1)|skin(1) 3 Breast(9;6.15e-08) GTGTTGAACCACTCCACGCAC 0.602 15 63 --- --- --- --- PASS RGS9 8787 broad.mit.edu 37 17 63198196 63198196 + Nonsense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr17:63198196C>A uc002jfe.2 + 14 1172 c.1062C>A c.(1060-1062)TAC>TAA p.Y354* RGS9_uc010dem.2_Nonsense_Mutation_p.Y351*|RGS9_uc002jfd.2_Nonsense_Mutation_p.Y351*|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Nonsense_Mutation_p.Y125* NM_003835 NP_003826 O75916 RGS9_HUMAN regulator of G-protein signaling 9 isoform 1 354 RGS. intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity ovary(2)|skin(2) 4 AGGAGATTTACAAGTGAGCAT 0.522 11 62 --- --- --- --- PASS DNAI2 64446 broad.mit.edu 37 17 72285877 72285877 + Splice_Site SNP T A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr17:72285877T>A uc002jkf.2 + 5 709 c.610_splice c.e5+2 p.E204_splice DNAI2_uc002jkg.2_Splice_Site|DNAI2_uc010dfp.2_Splice_Site NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate polypeptide 2 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity ovary(2)|central_nervous_system(1) 3 GGGACCTGGGTGAGAAGCAGC 0.627 Kartagener_syndrome 14 50 --- --- --- --- PASS TBC1D16 125058 broad.mit.edu 37 17 77923628 77923628 + Missense_Mutation SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr17:77923628C>T uc002jxj.2 - 7 1410 c.1294G>A c.(1294-1296)GGG>AGG p.G432R TBC1D16_uc002jxh.2_Missense_Mutation_p.G70R|TBC1D16_uc002jxi.2_Intron|TBC1D16_uc002jxk.1_Missense_Mutation_p.G70R NM_019020 NP_061893 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 432 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) CAGACCTCCCCGCGGATTGAC 0.577 7 69 --- --- --- --- PASS FAM38B 63895 broad.mit.edu 37 18 10696398 10696398 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr18:10696398C>A uc002kor.3 - 4 639 c.499G>T c.(499-501)GCC>TCC p.A167S FAM38B_uc002koq.2_Missense_Mutation_p.A65S NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN family with sequence similarity 38, member B 2210 Helical; (Potential). integral to membrane ion channel activity ovary(1) 1 ACCCCAAAGGCCCAAAAGCCG 0.547 19 66 --- --- --- --- PASS FAM38B 63895 broad.mit.edu 37 18 10696517 10696517 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr18:10696517G>T uc002kor.3 - 4 520 c.380C>A c.(379-381)CCC>CAC p.P127H FAM38B_uc002koq.2_Missense_Mutation_p.P25H NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN family with sequence similarity 38, member B 2170 integral to membrane ion channel activity ovary(1) 1 CTGTTTGATGGGCACATAGAT 0.517 18 89 --- --- --- --- PASS DSC3 1825 broad.mit.edu 37 18 28598197 28598197 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr18:28598197G>T uc002kwj.3 - 9 1258 c.1103C>A c.(1102-1104)GCA>GAA p.A368E DSC3_uc002kwi.3_Missense_Mutation_p.A368E NM_001941 NP_001932 Q14574 DSC3_HUMAN desmocollin 3 isoform Dsc3a preproprotein 368 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding ovary(2)|skin(2) 4 OV - Ovarian serous cystadenocarcinoma(10;0.125) CACATTGAATGCATTTTCCTC 0.279 16 32 --- --- --- --- PASS ASXL3 80816 broad.mit.edu 37 18 31325404 31325404 + Silent SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr18:31325404C>A uc010dmg.1 + 12 5647 c.5592C>A c.(5590-5592)GGC>GGA p.G1864G ASXL3_uc002kxq.2_Silent_p.G1571G NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1864 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 TCAGTTCCGGCATCAGTCAGC 0.463 78 222 --- --- --- --- PASS ZNF271 10778 broad.mit.edu 37 18 32887790 32887790 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr18:32887790G>T uc002kyq.3 + 3 2194 c.1202G>T c.(1201-1203)TGT>TTT p.C401F ZNF271_uc002kyp.3_Missense_Mutation_p.C401F|ZNF271_uc002kyr.3_Missense_Mutation_p.C401F NR_024565 SubName: Full=cDNA FLJ13394 fis, clone PLACE1001304, highly similar to Homo sapiens zinc finger protein 271 (ZNF271), mRNA; 0 CCTTTAGTGTGTACACCAACT 0.363 14 45 --- --- --- --- PASS RIT2 6014 broad.mit.edu 37 18 40695401 40695401 + Silent SNP T C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr18:40695401T>C uc002lav.2 - 1 257 c.84A>G c.(82-84)GCA>GCG p.A28A RIT2_uc010dnf.2_Silent_p.A28A NM_002930 NP_002921 Q99578 RIT2_HUMAN Ras-like without CAAX 2 28 GTP (By similarity). nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity ovary(1) 1 CAACTCCCCCTGCTCCCAGCA 0.517 44 110 --- --- --- --- PASS FGF22 27006 broad.mit.edu 37 19 643539 643539 + Missense_Mutation SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:643539C>T uc010xfq.1 + 3 448 c.448C>T c.(448-450)CGG>TGG p.R150W FGF22_uc010xfr.1_Missense_Mutation_p.P142L NM_020637 NP_065688 Q9HCT0 FGF22_HUMAN fibroblast growth factor 22 precursor 150 cell differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway extracellular space growth factor activity 0 all_epithelial(18;2.78e-22)|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) gggggggccccggccaggcgg 0.572 4 16 --- --- --- --- PASS C19orf21 126353 broad.mit.edu 37 19 758684 758684 + Nonsense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:758684G>T uc002lpo.2 + 2 1821 c.1738G>T c.(1738-1740)GAG>TAG p.E580* NM_173481 NP_775752 Q8IVT2 CS021_HUMAN hypothetical protein LOC126353 580 upper_aerodigestive_tract(1) 1 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014) 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) AACGCCAGATGAGAACTCTGA 0.617 11 59 --- --- --- --- PASS C19orf26 255057 broad.mit.edu 37 19 1233530 1233530 + Missense_Mutation SNP T G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:1233530T>G uc002lrm.2 - 8 1131 c.856A>C c.(856-858)ACC>CCC p.T286P NM_152769 NP_689982 Q8N350 DOS_HUMAN downstream of Stk11 312 integral to membrane 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) 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) CGCAGGCGGGTGAGGAACTGC 0.697 HNSCC(14;0.022) 4 12 --- --- --- --- PASS EEF2 1938 broad.mit.edu 37 19 3977846 3977846 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:3977846C>A uc002lze.2 - 12 2121 c.2038G>T c.(2038-2040)GTG>TTG p.V680L NM_001961 NP_001952 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 680 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) AAGCCGGCCACCACACTGTCC 0.622 26 95 --- --- --- --- PASS SH2D3A 10045 broad.mit.edu 37 19 6763757 6763757 + Missense_Mutation SNP C G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:6763757C>G uc002mft.2 - 2 197 c.3G>C c.(1-3)ATG>ATC p.M1I SH2D3A_uc010xjg.1_5'UTR NM_005490 NP_005481 Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 1 JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(2) 2 GTGGCACCTGCATGGAGCTCT 0.473 6 69 --- --- --- --- PASS CLEC4G 339390 broad.mit.edu 37 19 7795279 7795279 + Missense_Mutation SNP T C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:7795279T>C uc002mhp.3 - 6 505 c.436A>G c.(436-438)ACT>GCT p.T146A NM_198492 NP_940894 Q6UXB4 CLC4G_HUMAN C-type lectin domain family 4, member G 146 Extracellular (Potential). integral to membrane protein binding|sugar binding 0 AACAGCTCAGTGCGGACGTCC 0.701 6 60 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9008248 9008248 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:9008248G>T uc002mkp.2 - 41 39508 c.39304C>A c.(39304-39306)CAG>AAG p.Q13102K MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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 TGGCTCAGCTGCCAGTACAGC 0.577 40 175 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9075049 9075049 + Missense_Mutation SNP C G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:9075049C>G uc002mkp.2 - 3 12601 c.12397G>C c.(12397-12399)GAG>CAG p.E4133Q NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4135 Thr-rich.|Extracellular (Potential).|Ser-rich. 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 GTGGTCTTCTCTGAGTATGTA 0.512 21 88 --- --- --- --- PASS ZNF560 147741 broad.mit.edu 37 19 9577701 9577701 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:9577701G>T uc002mlp.1 - 10 2132 c.1922C>A c.(1921-1923)TCC>TAC p.S641Y ZNF560_uc010dwr.1_Missense_Mutation_p.S535Y NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 641 C2H2-type 11; degenerate. 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 AACTAGACTGGAGGAGACAAC 0.393 26 100 --- --- --- --- PASS S1PR5 53637 broad.mit.edu 37 19 10625146 10625146 + Missense_Mutation SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:10625146G>A uc002mot.1 - 2 599 c.542C>T c.(541-543)GCT>GTT p.A181V S1PR5_uc002mou.1_Missense_Mutation_p.A181V NM_030760 NP_110387 Q9H228 S1PR5_HUMAN endothelial differentiation, sphingolipid 181 Extracellular (By similarity). integral to membrane|plasma membrane lysosphingolipid and lysophosphatidic acid receptor activity central_nervous_system(1)|pancreas(1) 2 AGTGGAGCAAGCGTCCAGGCG 0.697 3 19 --- --- --- --- PASS RASAL3 64926 broad.mit.edu 37 19 15567015 15567015 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:15567015C>A uc002nbe.2 - 11 1707 c.1621G>T c.(1621-1623)GTG>TTG p.V541L RASAL3_uc002nbd.2_5'Flank|RASAL3_uc010eaa.1_Missense_Mutation_p.V29L NM_022904 NP_075055 Q86YV0 RASL3_HUMAN RAS protein activator like 3 541 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity 0 CTGGGGTCCACTTCACAGTCC 0.587 9 49 --- --- --- --- PASS CYP4F3 4051 broad.mit.edu 37 19 15760759 15760759 + Silent SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:15760759C>A uc002nbj.2 + 7 734 c.684C>A c.(682-684)CTC>CTA p.L228L CYP4F3_uc010xok.1_Silent_p.L228L|CYP4F3_uc010xol.1_Silent_p.L228L|CYP4F3_uc010xom.1_Silent_p.L79L|CYP4F3_uc002nbk.2_Silent_p.L228L|CYP4F3_uc010xon.1_5'Flank NM_000896 NP_000887 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, 228 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding ovary(3) 3 TCTTGGAGCTCAGTGCCCTTG 0.532 29 252 --- --- --- --- PASS NWD1 284434 broad.mit.edu 37 19 16884028 16884028 + Silent SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:16884028C>A uc002neu.3 + 11 2924 c.2502C>A c.(2500-2502)GCC>GCA p.A834A NWD1_uc002net.3_Silent_p.A699A|NWD1_uc002nev.3_Silent_p.A628A Q149M9 NWD1_HUMAN RecName: Full=NACHT and WD repeat domain-containing protein 1; 834 ATP binding skin(3)|ovary(2)|pancreas(2) 7 GCCAACAGGCCCAGAGCTGGT 0.622 10 70 --- --- --- --- PASS UNC13A 23025 broad.mit.edu 37 19 17738671 17738671 + Splice_Site SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:17738671C>A uc002nhd.2 - 32 4095 c.4095_splice c.e32+1 p.E1365_splice NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 CCCTGCCTCACCTCCTTTCCT 0.597 111 770 --- --- --- --- PASS FCHO1 23149 broad.mit.edu 37 19 17881694 17881694 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:17881694G>T uc010ebb.2 + 8 772 c.583G>T c.(583-585)GAC>TAC p.D195Y FCHO1_uc002nhg.3_Missense_Mutation_p.D195Y|FCHO1_uc002nhh.2_Missense_Mutation_p.D195Y|FCHO1_uc010xpw.1_Missense_Mutation_p.D145Y|FCHO1_uc010ebc.1_Missense_Mutation_p.D202Y NM_001161358 NP_001154830 O14526 FCHO1_HUMAN FCH domain only 1 isoform b 195 Potential. breast(1) 1 GAAGATGCTGGACTCAGCCCT 0.488 11 45 --- --- --- --- PASS PDE4C 5143 broad.mit.edu 37 19 18322679 18322679 + Missense_Mutation SNP T A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:18322679T>A uc010xqc.1 - 14 2161 c.1681A>T c.(1681-1683)ACG>TCG p.T561S PDE4C_uc002nik.3_Missense_Mutation_p.T561S|PDE4C_uc002nil.3_Missense_Mutation_p.T561S|PDE4C_uc002nif.3_Missense_Mutation_p.T330S|PDE4C_uc002nig.3_Missense_Mutation_p.T276S|PDE4C_uc002nih.3_Missense_Mutation_p.T331S|PDE4C_uc010ebk.2_Missense_Mutation_p.T455S|PDE4C_uc002nii.3_Missense_Mutation_p.T529S|PDE4C_uc010ebl.2_Missense_Mutation_p.T275S NM_001098819 NP_001092289 Q08493 PDE4C_HUMAN phosphodiesterase 4C isoform PDE4C-2 561 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|skin(2)|central_nervous_system(1) 5 Dyphylline(DB00651) ATGCGGTCCGTCCACTGGCGG 0.617 11 71 --- --- --- --- PASS NCAN 1463 broad.mit.edu 37 19 19338799 19338799 + Silent SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:19338799G>A uc002nlz.2 + 8 2469 c.2370G>A c.(2368-2370)CTG>CTA p.L790L NCAN_uc010ecc.1_Silent_p.L354L NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 790 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) GCAAAGGGCTGGATGCAAGTT 0.577 10 76 --- --- --- --- PASS ZNF253 56242 broad.mit.edu 37 19 20002979 20002979 + Missense_Mutation SNP G C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:20002979G>C uc002noj.2 + 4 1015 c.923G>C c.(922-924)AGA>ACA p.R308T ZNF253_uc002nok.2_Missense_Mutation_p.R232T|ZNF253_uc002nol.2_RNA NM_021047 NP_066385 O75346 ZN253_HUMAN zinc finger protein 253 308 Missing (in Ref. 1; AAC26844).|Missing (in Ref. 2; BAC11185). negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATTCATACTAGAGGGAAACCC 0.393 5 29 --- --- --- --- PASS ZNF708 7562 broad.mit.edu 37 19 21476251 21476251 + Missense_Mutation SNP C A A rs149714173 TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:21476251C>A uc002npq.1 - 4 1715 c.1517G>T c.(1516-1518)TGT>TTT p.C506F ZNF708_uc002npr.1_Missense_Mutation_p.C442F|ZNF708_uc010ecs.1_Missense_Mutation_p.C442F NM_021269 NP_067092 P17019 ZN708_HUMAN zinc finger protein 708 506 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(4)|skin(2) 6 ACATTCTTTACATTTGTAGGG 0.363 10 56 --- --- --- --- PASS PSENEN 55851 broad.mit.edu 37 19 36237348 36237348 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:36237348G>T uc002obi.1 + 3 294 c.90G>T c.(88-90)TGG>TGT p.W30C TMEM149_uc010eej.2_5'Flank|U2AF1L4_uc002obh.1_5'Flank|U2AF1L4_uc002obe.2_5'Flank|U2AF1L4_uc002obf.2_5'Flank|U2AF1L4_uc002obg.2_5'Flank|PSENEN_uc002obj.1_Missense_Mutation_p.W30C|PSENEN_uc002obk.1_RNA|LIN37_uc002obm.2_5'Flank NM_172341 NP_758844 Q9NZ42 PEN2_HUMAN presenilin enhancer 2 30 Helical; (Potential). amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane aspartic-type endopeptidase activity|protein binding ovary(2) 2 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) CTTTTCTCTGGTTGGTCAACA 0.483 37 110 --- --- --- --- PASS NOVA2 4858 broad.mit.edu 37 19 46476593 46476593 + Missense_Mutation SNP G C C TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:46476593G>C uc002pdv.2 - 1 65 c.17C>G c.(16-18)CCG>CGG p.P6R NM_002516 NP_002507 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 6 nucleus RNA binding 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) GCGGGAATCCGGGGCCTCGGG 0.473 6 8 --- --- --- --- PASS NOVA2 4858 broad.mit.edu 37 19 46476594 46476594 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:46476594G>T uc002pdv.2 - 1 64 c.16C>A c.(16-18)CCG>ACG p.P6T NM_002516 NP_002507 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 6 nucleus RNA binding 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) CGGGAATCCGGGGCCTCGGGC 0.468 5 8 --- --- --- --- PASS C5AR1 728 broad.mit.edu 37 19 47823172 47823172 + Silent SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:47823172C>T uc002pgj.1 + 2 187 c.138C>T c.(136-138)GTC>GTT p.V46V NM_001736 NP_001727 P21730 C5AR_HUMAN complement component 5 receptor 1 46 Helical; Name=1; (Potential). activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) TCTTTGCAGTCGTCTTCCTGG 0.552 9 106 --- --- --- --- PASS TPRX1 284355 broad.mit.edu 37 19 48305217 48305217 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:48305217G>T uc002php.1 - 2 1122 c.1051C>A c.(1051-1053)CCT>ACT p.P351T NM_198479 NP_940881 Q8N7U7 TPRX1_HUMAN tetra-peptide repeat homeobox 351 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048) GTGAAGTGAGGGAATAACTGG 0.433 48 86 --- --- --- --- PASS KLK1 3816 broad.mit.edu 37 19 51326992 51326992 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:51326992C>A uc002ptk.1 - 1 52 c.13G>T c.(13-15)GTT>TTT p.V5F KLK1_uc010ycg.1_RNA NM_002257 NP_002248 P06870 KLK1_HUMAN kallikrein 1 preproprotein 5 proteolysis nucleus serine-type endopeptidase activity 0 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGGCACAGAACCAGGAACCAC 0.637 4 68 --- --- --- --- PASS SIGLEC5 8778 broad.mit.edu 37 19 52130831 52130831 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:52130831C>A uc002pxe.2 - 6 1305 c.1166G>T c.(1165-1167)GGG>GTG p.G389V NM_003830 NP_003821 O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 precursor 389 Extracellular (Potential). cell adhesion integral to membrane sugar binding skin(2)|breast(1)|central_nervous_system(1) 4 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) GGCCCAGGGCCCAGCTGAGCT 0.662 11 42 --- --- --- --- PASS MIR526A2 574486 broad.mit.edu 37 19 54230232 54230232 + RNA SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:54230232G>A hsa-mir-526a-2|MI0003168 + c.57G>A MIR518E_hsa-mir-518e|MI0003169_5'Flank 0 CATCCTTTCAGAGGGTTACTC 0.423 21 109 --- --- --- --- PASS PTPRH 5794 broad.mit.edu 37 19 55699514 55699514 + Missense_Mutation SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:55699514C>T uc002qjq.2 - 13 2480 c.2407G>A c.(2407-2409)GAA>AAA p.E803K PTPRH_uc010esv.2_Missense_Mutation_p.E625K|uc002qjr.2_5'Flank NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 803 Cytoplasmic (Potential). apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) GCGAAGTCTTCAGCTGGGATG 0.493 20 180 --- --- --- --- PASS ZNF835 90485 broad.mit.edu 37 19 57175239 57175239 + Missense_Mutation SNP T A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:57175239T>A uc010ygo.1 - 2 1394 c.1394A>T c.(1393-1395)GAG>GTG p.E465V ZNF835_uc010ygn.1_Missense_Mutation_p.E443V NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 GTAGGGCCGCTCGCCCGTGTG 0.667 6 78 --- --- --- --- PASS ZSCAN1 284312 broad.mit.edu 37 19 58549470 58549470 + Missense_Mutation SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:58549470C>T uc002qrc.1 + 3 513 c.266C>T c.(265-267)GCG>GTG p.A89V ZSCAN1_uc002qra.1_Missense_Mutation_p.A89V|ZSCAN1_uc002qrb.1_Missense_Mutation_p.A89V NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 89 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) TTCCTGGGCGCGCTGCCCAGC 0.692 6 17 --- --- --- --- PASS ZSCAN1 284312 broad.mit.edu 37 19 58564993 58564993 + Missense_Mutation SNP C G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr19:58564993C>G uc002qrc.1 + 6 1048 c.801C>G c.(799-801)CAC>CAG p.H267Q NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 267 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCCTCAAGCACACCAAAGGTG 0.622 24 43 --- --- --- --- PASS NINL 22981 broad.mit.edu 37 20 25443158 25443158 + Missense_Mutation SNP T A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr20:25443158T>A uc002wux.1 - 20 3517 c.3443A>T c.(3442-3444)CAA>CTA p.Q1148L NINL_uc010gdn.1_Missense_Mutation_p.Q799L NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 1148 Potential. G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 CTGGGATAATTGATCCTTGTA 0.388 16 141 --- --- --- --- PASS KIF3B 9371 broad.mit.edu 37 20 30898587 30898587 + Missense_Mutation SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr20:30898587G>A uc002wxq.2 + 2 1174 c.1007G>A c.(1006-1008)CGT>CAT p.R336H KIF3B_uc010ztv.1_Missense_Mutation_p.R336H|KIF3B_uc010ztw.1_Missense_Mutation_p.R336H NM_004798 NP_004789 O15066 KIF3B_HUMAN kinesin family member 3B 336 Kinesin-motor. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding central_nervous_system(3)|ovary(2) 5 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TATGCCAACCGTGCCAAAAAC 0.532 10 77 --- --- --- --- PASS PTPRT 11122 broad.mit.edu 37 20 40944572 40944572 + Missense_Mutation SNP C G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr20:40944572C>G uc002xkg.2 - 12 2114 c.1930G>C c.(1930-1932)GAG>CAG p.E644Q PTPRT_uc010ggj.2_Missense_Mutation_p.E644Q NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 644 Extracellular (Potential).|Fibronectin type-III 4. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GAAAAGCACTCAATAATGTCA 0.522 31 64 --- --- --- --- PASS SPO11 23626 broad.mit.edu 37 20 55908750 55908750 + Silent SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr20:55908750C>A uc002xye.2 + 4 435 c.342C>A c.(340-342)ATC>ATA p.I114I SPO11_uc002xyf.2_Silent_p.I76I NM_012444 NP_036576 Q9Y5K1 SPO11_HUMAN meiotic recombination protein SPO11 isoform a 114 female gamete generation|reciprocal meiotic recombination chromosome|nucleus ATP binding|DNA binding|hydrolase activity breast(2)|skin(1) 3 Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09) CAGCTCTAATCCTTAAAATAT 0.259 Editing_and_processing_nucleases 6 44 --- --- --- --- PASS PCK1 5105 broad.mit.edu 37 20 56140805 56140805 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr20:56140805C>A uc002xyn.3 + 10 1977 c.1814C>A c.(1813-1815)CCC>CAC p.P605H PCK1_uc010zzm.1_Missense_Mutation_p.P288H NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 605 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) GCCGACCTCCCCTGTGAAATC 0.458 19 52 --- --- --- --- PASS ZNF831 128611 broad.mit.edu 37 20 57829620 57829620 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr20:57829620G>T uc002yan.2 + 5 4856 c.4856G>T c.(4855-4857)GGA>GTA p.G1619V NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1619 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) CAGGTATCTGGATTAATCACT 0.488 7 101 --- --- --- --- PASS SYCP2 10388 broad.mit.edu 37 20 58441392 58441392 + Missense_Mutation SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr20:58441392C>T uc002yaz.2 - 40 4415 c.4276G>A c.(4276-4278)GAA>AAA p.E1426K NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1426 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding ovary(3)|lung(2) 5 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) GAATCTTTTTCAAAATTCTCC 0.229 15 89 --- --- --- --- PASS DIDO1 11083 broad.mit.edu 37 20 61513663 61513663 + Silent SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr20:61513663C>T uc002ydr.1 - 16 3909 c.3645G>A c.(3643-3645)CGG>CGA p.R1215R DIDO1_uc002yds.1_Silent_p.R1215R NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1215 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) GAAGTCGGGTCCGCTTTTCGT 0.498 38 209 --- --- --- --- PASS DIDO1 11083 broad.mit.edu 37 20 61528077 61528077 + Silent SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr20:61528077C>A uc002ydr.1 - 7 2124 c.1860G>T c.(1858-1860)GCG>GCT p.A620A DIDO1_uc002yds.1_Silent_p.A620A|DIDO1_uc002ydt.1_Silent_p.A620A|DIDO1_uc002ydu.1_Silent_p.A620A NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 620 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) CAGCCGTTGCCGCTGCAGGTG 0.642 95 73 --- --- --- --- PASS GMEB2 26205 broad.mit.edu 37 20 62221642 62221642 + Missense_Mutation SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr20:62221642C>T uc002yfp.1 - 9 1872 c.1393G>A c.(1393-1395)GGT>AGT p.G465S GMEB2_uc002yfo.1_Missense_Mutation_p.G387S|GMEB2_uc002yfq.1_Missense_Mutation_p.G465S NM_012384 NP_036516 Q9UKD1 GMEB2_HUMAN glucocorticoid modulatory element binding 465 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|metal ion binding 0 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) ACCGTGCTACCGTCCTGCACG 0.682 9 81 --- --- --- --- PASS RBM11 54033 broad.mit.edu 37 21 15599595 15599595 + Missense_Mutation SNP A G G TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr21:15599595A>G uc002yjo.3 + 5 869 c.827A>G c.(826-828)AAG>AGG p.K276R RBM11_uc002yjn.3_Missense_Mutation_p.K162R|RBM11_uc002yjp.3_Missense_Mutation_p.K162R NM_144770 NP_658983 P57052 RBM11_HUMAN RNA binding motif protein 11 276 nucleotide binding|RNA binding 0 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) CGAAAGTCTAAGAAGAAGAAA 0.333 35 83 --- --- --- --- PASS USP25 29761 broad.mit.edu 37 21 17198684 17198684 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr21:17198684G>T uc002yjy.1 + 13 1683 c.1466G>T c.(1465-1467)AGC>ATC p.S489I USP25_uc011aby.1_Missense_Mutation_p.S489I|USP25_uc002yjz.1_Missense_Mutation_p.S489I|USP25_uc010gla.1_Intron NM_013396 NP_037528 Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 489 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3)|liver(2) 5 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) ACATTACCAAGGTAAAAAGTA 0.378 23 121 --- --- --- --- PASS TIAM1 7074 broad.mit.edu 37 21 32638720 32638720 + Missense_Mutation SNP T A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr21:32638720T>A uc002yow.1 - 5 1041 c.569A>T c.(568-570)CAA>CTA p.Q190L TIAM1_uc011adk.1_Missense_Mutation_p.Q190L|TIAM1_uc011adl.1_Missense_Mutation_p.Q190L|TIAM1_uc002yox.1_Intron NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 190 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 TAAATGTTCTTGGCTCAGATC 0.552 23 113 --- --- --- --- PASS KLHL22 84861 broad.mit.edu 37 22 20819555 20819555 + Silent SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr22:20819555C>A uc002zsl.1 - 4 811 c.702G>T c.(700-702)CTG>CTT p.L234L KLHL22_uc011ahr.1_Silent_p.L91L|KLHL22_uc002zsm.1_Silent_p.L234L NM_032775 NP_116164 Q53GT1 KLH22_HUMAN kelch-like 234 cell division Cul3-RING ubiquitin ligase complex lung(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GGGGCTCGTGCAGCGAGATCT 0.607 12 33 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 23247194 23247194 + RNA SNP T A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr22:23247194T>A uc011aim.1 + 373 c.15997T>A uc002zws.2_Intron Parts of antibodies, mostly variable regions. 0 GGGACCAAGCTGACCGTCCTA 0.547 13 127 --- --- --- --- PASS MYO18B 84700 broad.mit.edu 37 22 26317325 26317325 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr22:26317325G>T uc003abz.1 + 34 5716 c.5466G>T c.(5464-5466)GAG>GAT p.E1822D MYO18B_uc003aca.1_Missense_Mutation_p.E1703D|MYO18B_uc010guy.1_Missense_Mutation_p.E1704D|MYO18B_uc010guz.1_Missense_Mutation_p.E1702D|MYO18B_uc011aka.1_Missense_Mutation_p.E976D|MYO18B_uc011akb.1_Missense_Mutation_p.E1335D NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1822 Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 GCACCATGGAGGATGGCAAGA 0.572 3 12 --- --- --- --- PASS C22orf33 339669 broad.mit.edu 37 22 37387317 37387317 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr22:37387317C>A uc003aqf.2 - 6 892 c.746G>T c.(745-747)GGG>GTG p.G249V C22orf33_uc003aqe.2_Missense_Mutation_p.G164V NM_001163857 NP_001157329 O43247 EAN57_HUMAN hypothetical protein LOC339669 isoform 1 249 0 GTGCCACCGCCCTACAGCGAG 0.498 24 74 --- --- --- --- PASS MEI1 150365 broad.mit.edu 37 22 42172159 42172159 + Silent SNP G A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr22:42172159G>A uc003baz.1 + 21 2623 c.2598G>A c.(2596-2598)CTG>CTA p.L866L WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Silent_p.L252L|MEI1_uc003bbc.1_Silent_p.L234L|MEI1_uc010gym.1_Silent_p.L234L|MEI1_uc003bbd.1_Silent_p.L109L|MEI1_uc010gyn.1_RNA|MEI1_uc003bbe.1_RNA NM_152513 NP_689726 Q5TIA1 MEI1_HUMAN meiosis defective 1 866 binding central_nervous_system(1)|skin(1) 2 TGATTAGCCTGAGGACCTTCC 0.547 9 52 --- --- --- --- PASS FAM9A 171482 broad.mit.edu 37 X 8768140 8768140 + Missense_Mutation SNP G T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chrX:8768140G>T uc004csg.2 - 2 184 c.73C>A c.(73-75)CAG>AAG p.Q25K NM_174951 NP_777611 Q8IZU1 FAM9A_HUMAN family with sequence similarity 9, member A 25 nucleolus 0 Hepatocellular(5;0.219) GTGGCCCCCTGGGCGGCCGTA 0.642 11 13 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 32662322 32662322 + Missense_Mutation SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chrX:32662322C>T uc004dda.1 - 11 1502 c.1258G>A c.(1258-1260)GTA>ATA p.V420I DMD_uc004dcz.2_Missense_Mutation_p.V297I|DMD_uc004dcy.1_Missense_Mutation_p.V416I|DMD_uc004ddb.1_Missense_Mutation_p.V412I|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.V412I|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|MIR548F5_hsa-mir-548f-5|MI0006378_5'Flank NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 420 Spectrin 1. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TGCTCTTGTACTTCAGTTTCT 0.388 10 45 --- --- --- --- PASS CCNB3 85417 broad.mit.edu 37 X 50055568 50055568 + Missense_Mutation SNP G T T rs149508623 byFrequency TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chrX:50055568G>T uc004dox.3 + 7 3657 c.3359G>T c.(3358-3360)AGC>ATC p.S1120I CCNB3_uc004doy.2_Missense_Mutation_p.S1120I|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Missense_Mutation_p.S12I NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 1120 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) GATGAGGACAGCAGTGATCCA 0.388 22 72 --- --- --- --- PASS XIST 7503 broad.mit.edu 37 X 73066488 73066488 + RNA SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chrX:73066488C>A uc004ebm.1 - 1 c.6101G>T NR_001564 Homo sapiens cDNA: FLJ21545 fis, clone COL06195. 0 GTGGGCACTTCCTGCTGGAAG 0.468 12 34 --- --- --- --- PASS BRWD3 254065 broad.mit.edu 37 X 79932487 79932487 + Missense_Mutation SNP C T T TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chrX:79932487C>T uc004edt.2 - 41 5293 c.5030G>A c.(5029-5031)GGA>GAA p.G1677E BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.G1273E|BRWD3_uc004edp.2_Missense_Mutation_p.G1506E|BRWD3_uc004edq.2_Missense_Mutation_p.G1273E|BRWD3_uc010nmj.1_Missense_Mutation_p.G1273E|BRWD3_uc004edr.2_Missense_Mutation_p.G1347E|BRWD3_uc004eds.2_Missense_Mutation_p.G1273E|BRWD3_uc004edu.2_Missense_Mutation_p.G1347E|BRWD3_uc004edv.2_Missense_Mutation_p.G1273E|BRWD3_uc004edw.2_Missense_Mutation_p.G1273E|BRWD3_uc004edx.2_Missense_Mutation_p.G1273E|BRWD3_uc004edy.2_Missense_Mutation_p.G1273E|BRWD3_uc004edz.2_Missense_Mutation_p.G1347E|BRWD3_uc004eea.2_Missense_Mutation_p.G1347E|BRWD3_uc004eeb.2_Missense_Mutation_p.G1273E|uc004edn.1_5'Flank NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1677 Gly-rich. ovary(4) 4 ACCCCATCTTCCCCATCTGCC 0.259 9 86 --- --- --- --- PASS CPXCR1 53336 broad.mit.edu 37 X 88009035 88009035 + Missense_Mutation SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chrX:88009035C>A uc004efd.3 + 3 879 c.620C>A c.(619-621)CCC>CAC p.P207H CPXCR1_uc004efc.3_Missense_Mutation_p.P207H NM_033048 NP_149037 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 207 intracellular zinc ion binding ovary(3) 3 TACTACCGTCCCCTCACTGAG 0.423 8 27 --- --- --- --- PASS PCDH19 57526 broad.mit.edu 37 X 99657567 99657567 + Silent SNP C A A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chrX:99657567C>A uc010nmz.2 - 3 4247 c.2571G>T c.(2569-2571)GGG>GGT p.G857G PCDH19_uc004efw.3_Silent_p.G810G|PCDH19_uc004efx.3_Silent_p.G810G NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 857 Cytoplasmic (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 GCTGCTGGGGCCCCTGGCTGT 0.557 8 13 --- --- --- --- PASS SPRY3 10251 broad.mit.edu 37 X 155003874 155003874 + Missense_Mutation SNP G T T rs150318681 TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chrX:155003874G>T uc004fnq.1 + 2 795 c.341G>T c.(340-342)CGA>CTA p.R114L SPRY3_uc010nvl.1_Intron NM_005840 NP_005831 O43610 SPY3_HUMAN sprouty homolog 3 114 multicellular organismal development|regulation of signal transduction cytoplasm|membrane 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TCCATCATCCGAACCCAACCT 0.547 12 64 --- --- --- --- PASS ABCA12 26154 broad.mit.edu 37 2 215854167 215854167 + Frame_Shift_Del DEL A - - TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr2:215854167delA uc002vew.2 - 26 3935 c.3715delT c.(3715-3717)TACfs p.Y1239fs ABCA12_uc002vev.2_Frame_Shift_Del_p.Y921fs|ABCA12_uc010zjn.1_Frame_Shift_Del_p.Y166fs NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 1239 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GGGGAGGTGTACATATTTTCC 0.408 114 52 --- --- --- --- PACS1 55690 broad.mit.edu 37 11 65838059 65838061 + In_Frame_Del DEL GCA - - rs75352646 TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chr11:65838059_65838061delGCA uc001oha.1 + 1 236_238 c.102_104delGCA c.(100-105)CCGCAG>CCG p.Q40del PACS1_uc001ogz.1_In_Frame_Del_p.Q40del NM_018026 NP_060496 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 40 Gly-rich.|Poly-Gln. interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding ovary(6) 6 agccgccgccgcagcagcagcag 0.606 6 3 --- --- --- --- BTK 695 broad.mit.edu 37 X 100630267 100630267 + Frame_Shift_Del DEL G - - TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chrX:100630267delG uc004ehg.2 - 2 199 c.6delC c.(4-6)GCCfs p.A2fs BTK_uc010nnn.2_Frame_Shift_Del_p.A2fs|BTK_uc010nno.2_Frame_Shift_Del_p.A36fs|BTK_uc004ehi.2_Frame_Shift_Del_p.A2fs NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 2 calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 GAATCACTGCGGCCATAGCTT 0.468 Agammaglobulinemia_X-linked 75 36 --- --- --- --- TCEAL5 340543 broad.mit.edu 37 X 102529354 102529354 + Frame_Shift_Del DEL C - - TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx e81f1bb5-2d06-44b3-998a-e7a0b818467c 01aa61e4-b97b-41c8-b57f-10234623dc94 g.chrX:102529354delC uc004ejz.1 - 3 433 c.138delG c.(136-138)GGGfs p.G46fs NM_001012979 NP_001012997 Q5H9L2 TCAL5_HUMAN transcription elongation factor A (SII)-like 5 46 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(1)|breast(1) 2 attctgtcttcccctccatgt 0.114 17 12 --- --- --- ---