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 AGRN 375790 broad.mit.edu 37 1 957793 957793 + Silent SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:957793C>T uc001ack.1 + 2 464 c.414C>T c.(412-414)CTC>CTT p.L138L NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 138 NtA. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton central_nervous_system(2)|breast(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) ACTCCAGCCTCATGCGGATCA 0.632 6 66 --- --- --- --- PASS AGRN 375790 broad.mit.edu 37 1 981368 981368 + Missense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:981368C>T uc001ack.1 + 16 2755 c.2705C>T c.(2704-2706)GCG>GTG p.A902V NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 902 axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton central_nervous_system(2)|breast(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) GCGACCTGTGCGGAGATGCGC 0.667 7 39 --- --- --- --- PASS GLTPD1 80772 broad.mit.edu 37 1 1263143 1263143 + Nonstop_Mutation SNP G C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:1263143G>C uc001aeo.2 + 3 1060 c.645G>C c.(643-645)TAG>TAC p.*215Y NM_001029885 NP_001025056 Q5TA50 GLTD1_HUMAN glycolipid transfer protein domain containing 1 215 cytoplasm glycolipid binding|glycolipid transporter activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) ACCTGCCCTAGGGGCGGGAAG 0.682 4 26 --- --- --- --- PASS ACTRT2 140625 broad.mit.edu 37 1 2939345 2939345 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:2939345G>T uc001ajz.2 + 1 1300 c.1095G>T c.(1093-1095)AAG>AAT p.K365N NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN actin-related protein M2 365 cytoplasm|cytoskeleton 0 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) CAGACTTCAAGGAGTTTGGGA 0.602 7 202 --- --- --- --- PASS CASP9 842 broad.mit.edu 37 1 15844888 15844888 + Silent SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:15844888C>A uc001awn.2 - 2 230 c.135G>T c.(133-135)CGG>CGT p.R45R CASP9_uc001awm.1_Silent_p.R45R|CASP9_uc001awo.2_Silent_p.R45R|CASP9_uc001awp.2_5'UTR|CASP9_uc009voi.2_5'UTR|CASP9_uc010obm.1_5'UTR|CASP9_uc001awq.2_5'UTR NM_001229 NP_001220 P55211 CASP9_HUMAN caspase 9 isoform alpha preproprotein 45 CARD. activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol cysteine-type endopeptidase activity|enzyme activator activity|protein binding central_nervous_system(1)|kidney(1) 2 Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655) CAGAGCCTGCCCGCTGTTTGG 0.498 17 41 --- --- --- --- PASS DCDC2B 149069 broad.mit.edu 37 1 32678369 32678369 + Nonsense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:32678369C>A uc001bun.2 + 6 689 c.689C>A c.(688-690)TCG>TAG p.S230* NM_001099434 NP_001092904 A2VCK2 DCD2B_HUMAN doublecortin domain containing 2B 230 intracellular signal transduction 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CCTCCAGGCTCGAAGTCTAGG 0.587 4 53 --- --- --- --- PASS DLGAP3 58512 broad.mit.edu 37 1 35332751 35332751 + Silent SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:35332751C>T uc001byc.2 - 9 2619 c.2619G>A c.(2617-2619)GCG>GCA p.A873A NM_001080418 NP_001073887 O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated 873 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 Myeloproliferative disorder(586;0.0393) CCCAGAAACCCGCCAGGTCCT 0.577 OREG0013353 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 59 --- --- --- --- PASS SMAP2 64744 broad.mit.edu 37 1 40874374 40874374 + Missense_Mutation SNP A G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:40874374A>G uc001cfj.2 + 3 352 c.287A>G c.(286-288)TAT>TGT p.Y96C SMAP2_uc010ojh.1_Missense_Mutation_p.Y96C|SMAP2_uc001cfk.2_Missense_Mutation_p.Y66C|SMAP2_uc010oji.1_Missense_Mutation_p.Y13C NM_022733 NP_073570 Q8WU79 SMAP2_HUMAN small ArfGAP2 96 Arf-GAP. regulation of ARF GTPase activity cytoplasm|nucleus ARF GTPase activator activity|zinc ion binding 0 Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.04e-17) TATGAAGCCTATCTTCCTGAG 0.448 18 56 --- --- --- --- PASS STIL 6491 broad.mit.edu 37 1 47765602 47765602 + Nonsense_Mutation SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:47765602G>A uc001crc.1 - 6 831 c.676C>T c.(676-678)CAA>TAA p.Q226* TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Nonsense_Mutation_p.Q179*|STIL_uc010omo.1_Nonsense_Mutation_p.Q226*|STIL_uc001crd.1_Nonsense_Mutation_p.Q226*|STIL_uc001cre.1_Nonsense_Mutation_p.Q226*|STIL_uc001crg.1_Nonsense_Mutation_p.Q179* NM_003035 NP_003026 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus isoform 2 226 cell proliferation|multicellular organismal development centrosome|cytosol lung(2)|skin(1) 3 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) CCTTGAACTTGAGAAATATTC 0.333 7 37 --- --- --- --- PASS DNTTIP2 30836 broad.mit.edu 37 1 94343061 94343061 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:94343061C>G uc001dqf.2 - 2 468 c.430G>C c.(430-432)GAA>CAA p.E144Q DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Intron NM_014597 NP_055412 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, 144 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) ACATGAGATTCTGCTTCAGAC 0.413 16 26 --- --- --- --- PASS HIPK1 204851 broad.mit.edu 37 1 114483925 114483925 + Missense_Mutation SNP A T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:114483925A>T uc001eem.2 + 2 1081 c.920A>T c.(919-921)AAG>ATG p.K307M HIPK1_uc001eel.2_Missense_Mutation_p.K307M|HIPK1_uc001een.2_Missense_Mutation_p.K307M NM_198268 NP_938009 Q86Z02 HIPK1_HUMAN homeodomain-interacting protein kinase 1 isoform 307 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(4) 4 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) ATGAAGCTCAAGAGTCTTGGT 0.458 15 29 --- --- --- --- PASS SEC22B 9554 broad.mit.edu 37 1 145103915 145103915 + Missense_Mutation SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:145103915G>A uc001eml.1 + 2 223 c.83G>A c.(82-84)CGG>CAG p.R28Q NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron NM_004892 NP_004883 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B 28 Longin.|Cytoplasmic (Potential). ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding 0 CAGTCTGGCCGGGACCTTCAA 0.418 6 26 --- --- --- --- PASS FLG2 388698 broad.mit.edu 37 1 152325832 152325832 + Missense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:152325832C>T uc001ezw.3 - 3 4503 c.4430G>A c.(4429-4431)AGA>AAA p.R1477K uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1477 Filaggrin 5. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGGGCATGTCTAGTGGTATC 0.507 38 291 --- --- --- --- PASS ASH1L 55870 broad.mit.edu 37 1 155319173 155319173 + Missense_Mutation SNP T C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:155319173T>C uc009wqq.2 - 19 7994 c.7514A>G c.(7513-7515)TAT>TGT p.Y2505C RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.Y2500C|MIR555_hsa-mir-555|MI0003561_5'Flank NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 2505 Bromo. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CACTGTCTTATAGTAACCAGT 0.408 19 35 --- --- --- --- PASS ASH1L 55870 broad.mit.edu 37 1 155408137 155408137 + Missense_Mutation SNP C T T rs142217207 TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:155408137C>T uc009wqq.2 - 5 6289 c.5809G>A c.(5809-5811)GAG>AAG p.E1937K ASH1L_uc001fkt.2_Missense_Mutation_p.E1937K NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 1937 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TTCTCTTGCTCTTCTTCCTCT 0.343 22 97 --- --- --- --- PASS FCRL5 83416 broad.mit.edu 37 1 157490979 157490979 + Silent SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:157490979C>T uc001fqu.2 - 11 2501 c.2343G>A c.(2341-2343)CTG>CTA p.L781L FCRL5_uc009wsm.2_Silent_p.L781L NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 781 Extracellular (Potential).|Ig-like C2-type 8. integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GGTACAGGATCAGGGGAGAGC 0.612 18 55 --- --- --- --- PASS OR10X1 128367 broad.mit.edu 37 1 158549012 158549012 + Silent SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:158549012G>T uc010pin.1 - 1 678 c.678C>A c.(676-678)ACC>ACA p.T226T NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, 226 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TGAGCAGAAGGGTACCCAGCA 0.473 5 73 --- --- --- --- PASS MAEL 84944 broad.mit.edu 37 1 166962035 166962035 + Silent SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:166962035C>A uc001gdy.1 + 4 509 c.438C>A c.(436-438)CTC>CTA p.L146L MAEL_uc001gdz.1_Silent_p.L115L|MAEL_uc009wvf.1_RNA NM_032858 NP_116247 Q96JY0 MAEL_HUMAN maelstrom homolog 146 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding skin(1) 1 AGTATTCTCTCCAAGAAGGTA 0.363 14 47 --- --- --- --- PASS TDRD5 163589 broad.mit.edu 37 1 179609118 179609118 + Missense_Mutation SNP A T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:179609118A>T uc001gnf.1 + 10 1915 c.1665A>T c.(1663-1665)GAA>GAT p.E555D TDRD5_uc010pnp.1_Missense_Mutation_p.E555D|TDRD5_uc001gnh.1_Missense_Mutation_p.E110D NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 555 Tudor. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 AGAAACAGGAAGTTGAAGTGT 0.413 28 96 --- --- --- --- PASS RGL1 23179 broad.mit.edu 37 1 183885717 183885717 + Missense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:183885717C>T uc001gqo.2 + 16 2043 c.1886C>T c.(1885-1887)TCG>TTG p.S629L RGL1_uc001gqm.2_Missense_Mutation_p.S664L|RGL1_uc010pog.1_Missense_Mutation_p.S627L|RGL1_uc010poh.1_Missense_Mutation_p.S627L|RGL1_uc010poi.1_Missense_Mutation_p.S600L NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation 629 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 CGCTCTGTCTCGGTGACGTCC 0.507 48 100 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 185959424 185959424 + Nonsense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:185959424G>T uc001grq.1 + 22 3455 c.3226G>T c.(3226-3228)GGA>TGA p.G1076* HMCN1_uc001grr.1_Nonsense_Mutation_p.G417* NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 1076 Ig-like C2-type 8. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CAGAGTGTTTGGAGATCAACG 0.423 8 378 --- --- --- --- PASS TATDN3 128387 broad.mit.edu 37 1 212965318 212965318 + Missense_Mutation SNP G C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:212965318G>C uc001hjo.2 + 1 149 c.55G>C c.(55-57)GAC>CAC p.D19H NSL1_uc001hjm.2_5'Flank|NSL1_uc001hjn.2_5'Flank|NSL1_uc010pti.1_5'Flank|TATDN3_uc010ptj.1_Missense_Mutation_p.D19H|TATDN3_uc010ptk.1_Missense_Mutation_p.D19H|TATDN3_uc001hjp.2_Missense_Mutation_p.D19H|TATDN3_uc010ptl.1_Missense_Mutation_p.D19H NM_001042552 NP_001036017 Q17R31 TATD3_HUMAN TatD DNase domain containing 3 isoform 1 19 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104) CTCCGCCCCGGACTTTGACCG 0.662 3 15 --- --- --- --- PASS PTPN14 5784 broad.mit.edu 37 1 214551397 214551397 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:214551397G>T uc001hkk.1 - 14 2864 c.2593C>A c.(2593-2595)CTG>ATG p.L865M PTPN14_uc010pty.1_Missense_Mutation_p.L766M NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 865 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GCCAACATCAGCGGCCTCTTC 0.522 13 41 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215963407 215963407 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:215963407C>A uc001hku.1 - 51 10563 c.10176G>T c.(10174-10176)ATG>ATT p.M3392I NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3392 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTACCTTCATCATCATTCCAG 0.333 HNSCC(13;0.011) 10 44 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216062110 216062110 + Missense_Mutation SNP G C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:216062110G>C uc001hku.1 - 41 8268 c.7881C>G c.(7879-7881)ATC>ATG p.I2627M NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2627 Extracellular (Potential).|Fibronectin type-III 13. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTGGACTTGGGATCCCTTCCG 0.498 HNSCC(13;0.011) 12 32 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237837447 237837447 + Missense_Mutation SNP A G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:237837447A>G uc001hyl.1 + 59 8762 c.8642A>G c.(8641-8643)GAG>GGG p.E2881G RYR2_uc010pxz.1_5'Flank NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2881 Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.|Calmodulin-binding (Potential).|4. 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) ACAGCCAAAGAGAAAGCCAAG 0.423 21 92 --- --- --- --- PASS OR2W5 441932 broad.mit.edu 37 1 247655048 247655048 + Missense_Mutation SNP C A A rs141044958 TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:247655048C>A uc001icz.1 + 1 619 c.619C>A c.(619-621)CCT>ACT p.P207T NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GGGTGGCTCTCCTCCTGGTGC 0.567 23 85 --- --- --- --- PASS OR2W5 441932 broad.mit.edu 37 1 247655049 247655049 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:247655049C>A uc001icz.1 + 1 620 c.620C>A c.(619-621)CCT>CAT p.P207H NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GGTGGCTCTCCTCCTGGTGCC 0.567 25 83 --- --- --- --- PASS MATN3 4148 broad.mit.edu 37 2 20200307 20200307 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr2:20200307C>A uc002rdl.2 - 5 1126 c.1063G>T c.(1063-1065)GGT>TGT p.G355C MATN3_uc010exu.1_Missense_Mutation_p.G313C NM_002381 NP_002372 O15232 MATN3_HUMAN matrilin 3 precursor 355 EGF-like 3. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCATGGGTACCCAAAGCACAT 0.393 4 24 --- --- --- --- PASS TMEM214 54867 broad.mit.edu 37 2 27260448 27260448 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr2:27260448C>G uc002ria.3 + 9 1140 c.1030C>G c.(1030-1032)CAG>GAG p.Q344E TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Missense_Mutation_p.Q299E NM_017727 NP_060197 Q6NUQ4 TM214_HUMAN transmembrane protein 214 isoform 1 344 integral to membrane protein binding 0 GCAGCTGTGTCAGCTCTACCC 0.547 18 61 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32712731 32712731 + Nonsense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr2:32712731G>T uc010ezu.2 + 41 7965 c.7831G>T c.(7831-7833)GGA>TGA p.G2611* NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 2611 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) GTCTCCCACTGGAACAGATGA 0.328 5 119 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32832614 32832614 + Silent SNP A T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr2:32832614A>T uc010ezu.2 + 72 14297 c.14163A>T c.(14161-14163)ACA>ACT p.T4721T NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4721 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) CCAGTGGCACACAGAGTTCTC 0.423 31 137 --- --- --- --- PASS SLC8A1 6546 broad.mit.edu 37 2 40656932 40656932 + Silent SNP T C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr2:40656932T>C uc002rrx.2 - 1 513 c.489A>G c.(487-489)GCA>GCG p.A163A SLC8A1_uc002rry.2_Silent_p.A163A|SLC8A1_uc002rrz.2_Silent_p.A163A|SLC8A1_uc002rsa.2_Silent_p.A163A|SLC8A1_uc002rsd.3_Silent_p.A163A|SLC8A1_uc002rsb.1_Silent_p.A163A|SLC8A1_uc010fan.1_Silent_p.A163A|SLC8A1_uc002rsc.1_Silent_p.A163A NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 163 Extracellular (Potential).|Alpha-1. cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CGAGGTCTCCTGCAGTGAAGT 0.473 9 41 --- --- --- --- PASS PLEKHH2 130271 broad.mit.edu 37 2 43986038 43986038 + Splice_Site SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr2:43986038G>A uc010yny.1 + 27 4025 c.3942_splice c.e27-1 p.R1314_splice NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) tttttttttAGGCAGCTTTGC 0.378 4 15 --- --- --- --- PASS SRBD1 55133 broad.mit.edu 37 2 45826850 45826850 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr2:45826850C>A uc002rus.2 - 4 462 c.386G>T c.(385-387)AGG>ATG p.R129M NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 129 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding central_nervous_system(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) CTTTTTAGTCCTTCGAACTGT 0.423 6 142 --- --- --- --- PASS GMCL1 64395 broad.mit.edu 37 2 70064701 70064701 + Missense_Mutation SNP A G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr2:70064701A>G uc002sfu.2 + 2 490 c.283A>G c.(283-285)AAA>GAA p.K95E NM_178439 NP_848526 Q96IK5 GMCL1_HUMAN germ cell-less 95 cell differentiation|multicellular organismal development|spermatogenesis nuclear matrix ovary(3) 3 GAGTACATCTAAATATATTTA 0.239 6 22 --- --- --- --- PASS CYP26B1 56603 broad.mit.edu 37 2 72359529 72359529 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr2:72359529C>A uc002sih.1 - 6 1366 c.1366G>T c.(1366-1368)GTG>TTG p.V456L CYP26B1_uc010yra.1_Missense_Mutation_p.V439L|CYP26B1_uc010yrb.1_Missense_Mutation_p.V381L NM_019885 NP_063938 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily b, 456 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding skin(2) 2 GCCAGCTCCACCGCCAGCACC 0.657 3 7 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 79878739 79878739 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr2:79878739C>G uc010ysh.1 + 1 62 c.57C>G c.(55-57)ATC>ATG p.I19M CTNNA2_uc010yse.1_Missense_Mutation_p.I19M|CTNNA2_uc010ysf.1_Missense_Mutation_p.I19M|CTNNA2_uc010ysg.1_Missense_Mutation_p.I19M|hsa-mir-4264|MI0015877_5'Flank NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 19 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 GTTTGGAAATCCGGACGCTAA 0.398 8 64 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89247247 89247247 + RNA SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr2:89247247C>A uc010ytr.1 - 100 c.7937G>T uc002stl.2_Intron Parts of antibodies, mostly variable regions. TACCTGGGAGCCAGAGCAGCA 0.512 28 88 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89265772 89265772 + RNA SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr2:89265772C>G uc010ytr.1 - 95 c.7794G>C uc002stl.2_Intron Parts of antibodies, mostly variable regions. GGGTGTGTAACACTGTGGGAG 0.512 42 102 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89340006 89340006 + RNA SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr2:89340006G>A uc010ytr.1 - 64 c.5853C>T uc002stl.2_Intron Parts of antibodies, mostly variable regions. TCTGGATGTCGCATCTGGAAC 0.458 54 162 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90260124 90260124 + RNA SNP T C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr2:90260124T>C uc010fhm.2 + 30 c.4107T>C Parts of antibodies, mostly variable regions. GCATCCACTTTGCAAAGTGGG 0.478 18 167 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 124979288 124979288 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr2:124979288G>T uc002tno.2 + 2 453 c.89G>T c.(88-90)TGT>TTT p.C30F CNTNAP5_uc010flu.2_Missense_Mutation_p.C30F NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 30 F5/8 type C.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) ATAGACAACTGTGATGATCCA 0.428 6 23 --- --- --- --- PASS THSD7B 80731 broad.mit.edu 37 2 137814720 137814720 + Silent SNP G C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr2:137814720G>C uc002tva.1 + 2 777 c.777G>C c.(775-777)TCG>TCC p.S259S THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Silent_p.S149S NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) ATCATCATTCGAAGTCTTGGG 0.388 6 62 --- --- --- --- PASS SLC4A10 57282 broad.mit.edu 37 2 162751233 162751233 + Missense_Mutation SNP G T T rs61748241 TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr2:162751233G>T uc002ubx.3 + 11 1423 c.1239G>T c.(1237-1239)TTG>TTT p.L413F SLC4A10_uc010fpa.1_Missense_Mutation_p.L425F|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.L383F|SLC4A10_uc010zcs.1_Missense_Mutation_p.L394F NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 413 Cytoplasmic (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 GTAATGACTTGGTATCAGGAA 0.323 4 46 --- --- --- --- PASS CCDC141 285025 broad.mit.edu 37 2 179702022 179702022 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr2:179702022C>G uc002unf.1 - 13 2256 c.2199G>C c.(2197-2199)AAG>AAC p.K733N CCDC141_uc002une.1_Missense_Mutation_p.K183N NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 733 protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) AGGCAGTACTCTTTTCCACGA 0.473 18 42 --- --- --- --- PASS PARD3B 117583 broad.mit.edu 37 2 206023503 206023503 + Nonsense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr2:206023503G>T uc002var.1 + 11 1699 c.1492G>T c.(1492-1494)GAG>TAG p.E498* PARD3B_uc010fub.1_Nonsense_Mutation_p.E498*|PARD3B_uc002vao.1_Nonsense_Mutation_p.E498*|PARD3B_uc002vap.1_Intron|PARD3B_uc002vaq.1_Nonsense_Mutation_p.E498* NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 498 PDZ 3. cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GCTCACCTTTGAGATCCCCCT 0.468 10 158 --- --- --- --- PASS PIKFYVE 200576 broad.mit.edu 37 2 209200098 209200098 + Missense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr2:209200098C>T uc002vcz.2 + 25 4369 c.4211C>T c.(4210-4212)CCA>CTA p.P1404L PIKFYVE_uc002vcy.1_Missense_Mutation_p.P1348L NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 1404 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 CGTCAGGCCCCATTAAAAGTG 0.343 19 72 --- --- --- --- PASS FN1 2335 broad.mit.edu 37 2 216251681 216251681 + Missense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr2:216251681C>T uc002vfa.2 - 28 4609 c.4343G>A c.(4342-4344)GGT>GAT p.G1448D FN1_uc002vfb.2_Missense_Mutation_p.G1357D|FN1_uc002vfc.2_Missense_Mutation_p.G1357D|FN1_uc002vfd.2_Missense_Mutation_p.G1448D|FN1_uc002vfe.2_Missense_Mutation_p.G1357D|FN1_uc002vff.2_Missense_Mutation_p.G1357D|FN1_uc002vfg.2_Missense_Mutation_p.G1357D|FN1_uc002vfh.2_Missense_Mutation_p.G1357D|FN1_uc002vfi.2_Missense_Mutation_p.G1448D|FN1_uc002vfj.2_Missense_Mutation_p.G1448D|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Missense_Mutation_p.G75D NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGAATCAAGACCTGTTTTTCC 0.458 5 19 --- --- --- --- PASS BHLHE40 8553 broad.mit.edu 37 3 5023083 5023083 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr3:5023083G>T uc003bqf.2 + 4 572 c.265G>T c.(265-267)GGT>TGT p.G89C uc003bqe.1_5'Flank|uc010hce.1_5'Flank|BHLHE40_uc011asw.1_5'UTR NM_003670 NP_003661 O14503 BHE40_HUMAN basic helix-loop-helix family, member e40 89 Helix-loop-helix motif. Golgi apparatus|nucleolus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CCAGACTTTGGGTCACTTGGA 0.413 6 181 --- --- --- --- PASS GRIP2 80852 broad.mit.edu 37 3 14549198 14549198 + Missense_Mutation SNP T A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr3:14549198T>A uc011avi.1 - 19 2383 c.2383A>T c.(2383-2385)ATC>TTC p.I795F GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Missense_Mutation_p.I326F NM_001080423 NP_001073892 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 697 PDZ 6. synaptic transmission cytosol|plasma membrane protein binding pancreas(1) 1 CCCACGTGGATGGCACCAGTC 0.622 8 18 --- --- --- --- PASS QRICH1 54870 broad.mit.edu 37 3 49094466 49094466 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr3:49094466C>G uc010hkq.2 - 4 1463 c.1167G>C c.(1165-1167)ATG>ATC p.M389I QRICH1_uc003cvu.2_Missense_Mutation_p.M389I|QRICH1_uc003cvv.2_Missense_Mutation_p.M389I NM_198880 NP_942581 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 389 Gln-rich. ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) TGTTGCCATTCATGAACTGTG 0.473 6 30 --- --- --- --- PASS HYAL1 3373 broad.mit.edu 37 3 50338437 50338437 + Nonsense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr3:50338437C>T uc003czp.2 - 3 1104 c.972G>A c.(970-972)TGG>TGA p.W324* HYAL3_uc003czc.1_5'Flank|HYAL3_uc003czd.1_5'Flank|HYAL3_uc003cze.1_5'Flank|HYAL3_uc003czf.1_5'Flank|HYAL3_uc003czg.1_5'Flank|NAT6_uc003czi.2_5'Flank|NAT6_uc003czj.2_5'Flank|NAT6_uc003czk.3_5'Flank|NAT6_uc003czl.1_5'Flank|HYAL1_uc003czm.2_Nonsense_Mutation_p.W142*|HYAL1_uc003czo.2_Nonsense_Mutation_p.W65*|HYAL1_uc003czq.2_Intron|HYAL1_uc003czr.2_Nonsense_Mutation_p.W324*|HYAL1_uc003czn.2_5'UTR|HYAL1_uc003czs.2_Nonsense_Mutation_p.W324*|HYAL1_uc003czt.2_Nonsense_Mutation_p.W324* NM_033159 NP_149349 Q12794 HYAL1_HUMAN hyaluronoglucosaminidase 1 isoform 1 324 extracellular space|lysosome hyalurononglucosaminidase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) Hyaluronidase(DB00070) TTGTATTTTCCCAGCTCACCC 0.627 4 9 --- --- --- --- PASS DNAH12 201625 broad.mit.edu 37 3 57528591 57528591 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr3:57528591C>G uc003dit.2 - 2 188 c.7G>C c.(7-9)GAT>CAT p.D3H DNAH12_uc003diu.2_Missense_Mutation_p.D3H NM_178504 NP_848599 Q6ZR08 DYH12_HUMAN dynein heavy chain domain 2 isoform 1 3 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity pancreas(1)|skin(1) 2 TTGTTTGCATCTGACATCTTG 0.418 11 23 --- --- --- --- PASS PDZRN3 23024 broad.mit.edu 37 3 73437214 73437214 + Missense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr3:73437214C>T uc003dpl.1 - 8 1519 c.1423G>A c.(1423-1425)GGG>AGG p.G475R PDZRN3_uc011bgh.1_Missense_Mutation_p.G132R|PDZRN3_uc010hoe.1_Missense_Mutation_p.G173R|PDZRN3_uc011bgf.1_Missense_Mutation_p.G192R|PDZRN3_uc011bgg.1_Missense_Mutation_p.G195R NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 475 PDZ 2. ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) ACCTCTATCCCATTAATCTTT 0.403 18 59 --- --- --- --- PASS EPHA6 285220 broad.mit.edu 37 3 96533764 96533764 + Missense_Mutation SNP A T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr3:96533764A>T uc010how.1 + 1 340 c.297A>T c.(295-297)GAA>GAT p.E99D EPHA6_uc003drp.1_Missense_Mutation_p.E99D NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 5 integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 GGGGCTGCGAAGTCCGGGAAT 0.562 5 35 --- --- --- --- PASS OR5K3 403277 broad.mit.edu 37 3 98109533 98109533 + Missense_Mutation SNP G C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr3:98109533G>C uc011bgw.1 + 1 24 c.24G>C c.(22-24)TTG>TTC p.L8F NM_001005516 NP_001005516 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, 8 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATCACTCCTTGATAGCTGAGT 0.388 16 46 --- --- --- --- PASS IMPG2 50939 broad.mit.edu 37 3 100994577 100994577 + Missense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr3:100994577C>T uc003duq.1 - 6 799 c.596G>A c.(595-597)AGT>AAT p.S199N IMPG2_uc011bhe.1_Missense_Mutation_p.S62N NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 199 Extracellular (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 ATGTGGAACACTGAGAGTAGT 0.423 10 38 --- --- --- --- PASS ILDR1 286676 broad.mit.edu 37 3 121712684 121712684 + Silent SNP A T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr3:121712684A>T uc003ees.2 - 7 1018 c.912T>A c.(910-912)CCT>CCA p.P304P ILDR1_uc003eeq.2_Silent_p.P272P|ILDR1_uc003eer.2_Silent_p.P260P|ILDR1_uc010hrg.2_Silent_p.P215P NM_175924 NP_787120 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 304 Cytoplasmic (Potential). cytosol|integral to membrane|plasma membrane receptor activity skin(1) 1 GBM - Glioblastoma multiforme(114;0.156) CTTTGAGGTCAGGGGGCAGAG 0.582 8 34 --- --- --- --- PASS ADCY5 111 broad.mit.edu 37 3 123044199 123044199 + Silent SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr3:123044199G>T uc003egh.1 - 8 2058 c.2058C>A c.(2056-2058)GGC>GGA p.G686G ADCY5_uc003egg.1_Silent_p.G319G|ADCY5_uc003egi.1_Silent_p.G245G NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 686 Cytoplasmic (Potential). activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) ACACCTGGTTGCCACCCAGGT 0.622 14 57 --- --- --- --- PASS KBTBD12 166348 broad.mit.edu 37 3 127649097 127649097 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr3:127649097C>G uc010hsr.2 + 3 1466 c.1463C>G c.(1462-1464)GCT>GGT p.A488G KBTBD12_uc003ejy.3_Missense_Mutation_p.A95G|KBTBD12_uc010hsq.2_Intron|KBTBD12_uc003eka.3_Missense_Mutation_p.A63G NM_207335 NP_997218 Q3ZCT8 KBTBC_HUMAN kelch domain containing 6 488 Kelch 2. ovary(1) 1 TTCAGTACAGCTGTAGTCAAC 0.418 3 22 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164780248 164780248 + Missense_Mutation SNP T C C rs148454534 TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr3:164780248T>C uc003fei.2 - 9 993 c.931A>G c.(931-933)ATA>GTA p.I311V NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 311 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TATGTTACTATTGGAGTAGGC 0.323 HNSCC(35;0.089) 11 33 --- --- --- --- PASS SERPINI2 5276 broad.mit.edu 37 3 167189518 167189518 + Silent SNP T C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr3:167189518T>C uc003fer.1 - 1 163 c.105A>G c.(103-105)CAA>CAG p.Q35Q SERPINI2_uc003fes.1_Silent_p.Q45Q|SERPINI2_uc003fet.1_Silent_p.Q35Q NM_006217 NP_006208 O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), 35 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(2)|urinary_tract(1) 3 AGGAAACCTCTTGATAAAGAT 0.393 22 115 --- --- --- --- PASS PHC3 80012 broad.mit.edu 37 3 169846593 169846593 + Missense_Mutation SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr3:169846593G>A uc010hws.1 - 8 1695 c.1631C>T c.(1630-1632)TCA>TTA p.S544L PHC3_uc003fgl.2_Missense_Mutation_p.S556L|PHC3_uc011bpq.1_Missense_Mutation_p.S503L|PHC3_uc011bpr.1_Missense_Mutation_p.S470L NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN polyhomeotic like 3 544 Pro-rich. multicellular organismal development PcG protein complex DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) TTCCTCTTCTGACACCAAAGC 0.507 50 228 --- --- --- --- PASS FNDC3B 64778 broad.mit.edu 37 3 172028654 172028654 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr3:172028654C>A uc003fhy.2 + 11 1409 c.1237C>A c.(1237-1239)CTT>ATT p.L413I FNDC3B_uc003fhz.3_Missense_Mutation_p.L413I|FNDC3B_uc003fia.2_Missense_Mutation_p.L344I NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 413 Fibronectin type-III 2. endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) CACCAACTACCTTTTAGAGTG 0.318 6 163 --- --- --- --- PASS ECT2 1894 broad.mit.edu 37 3 172479422 172479422 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr3:172479422C>A uc003fii.2 + 7 752 c.614C>A c.(613-615)CCA>CAA p.P205Q ECT2_uc010hwv.1_Missense_Mutation_p.P236Q|ECT2_uc003fih.2_Missense_Mutation_p.P204Q|ECT2_uc003fij.1_Missense_Mutation_p.P205Q|ECT2_uc003fik.1_Missense_Mutation_p.P205Q|ECT2_uc003fil.1_Missense_Mutation_p.P236Q NM_018098 NP_060568 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 205 BRCT 1. 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) CTAGGTACTCCAATTATGAAG 0.323 6 90 --- --- --- --- PASS NLGN1 22871 broad.mit.edu 37 3 173998368 173998368 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr3:173998368C>A uc003fio.1 + 7 2170 c.1747C>A c.(1747-1749)CAA>AAA p.Q583K NLGN1_uc003fip.1_Missense_Mutation_p.Q583K NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 600 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) CCAGAAAGACCAACTTTATCT 0.403 5 81 --- --- --- --- PASS PSMD2 5708 broad.mit.edu 37 3 184020467 184020467 + Silent SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr3:184020467G>T uc003fnn.1 + 7 897 c.864G>T c.(862-864)GTG>GTT p.V288V PSMD2_uc011brj.1_Silent_p.V129V|PSMD2_uc011brk.1_Silent_p.V158V NM_002808 NP_002799 Q13200 PSMD2_HUMAN proteasome 26S non-ATPase subunit 2 288 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding 0 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) CTCTCCACAGGGTAGTACAGA 0.517 7 160 --- --- --- --- PASS KLF3 51274 broad.mit.edu 37 4 38691456 38691456 + Silent SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr4:38691456C>T uc003gth.3 + 4 983 c.651C>T c.(649-651)CCC>CCT p.P217P KLF3_uc003gtg.2_Silent_p.P217P NM_016531 NP_057615 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 217 Pro-rich. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1) 2 AAATGTCACCCCCCTTAATGA 0.403 20 65 --- --- --- --- PASS PDS5A 23244 broad.mit.edu 37 4 39839563 39839563 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr4:39839563C>A uc003guv.3 - 32 4463 c.3923G>T c.(3922-3924)GGT>GTT p.G1308V PDS5A_uc010ifo.2_Missense_Mutation_p.G1268V NM_001100399 NP_001093869 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog 1308 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding 0 TGCTTCCAAACCCCCAGGGCT 0.448 14 47 --- --- --- --- PASS N4BP2 55728 broad.mit.edu 37 4 40121557 40121557 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr4:40121557G>T uc003guy.3 + 9 2164 c.1826G>T c.(1825-1827)AGA>ATA p.R609I N4BP2_uc010ifq.2_Missense_Mutation_p.R529I|N4BP2_uc010ifr.2_Missense_Mutation_p.R529I NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 609 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 TACAGCCCAAGAGACGATGAA 0.313 8 34 --- --- --- --- PASS N4BP2 55728 broad.mit.edu 37 4 40121558 40121558 + Missense_Mutation SNP A T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr4:40121558A>T uc003guy.3 + 9 2165 c.1827A>T c.(1825-1827)AGA>AGT p.R609S N4BP2_uc010ifq.2_Missense_Mutation_p.R529S|N4BP2_uc010ifr.2_Missense_Mutation_p.R529S NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 609 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 ACAGCCCAAGAGACGATGAAG 0.313 8 33 --- --- --- --- PASS CORIN 10699 broad.mit.edu 37 4 47746482 47746482 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr4:47746482G>T uc003gxm.2 - 5 829 c.736C>A c.(736-738)CAA>AAA p.Q246K CORIN_uc011bzf.1_Missense_Mutation_p.Q107K|CORIN_uc011bzg.1_Missense_Mutation_p.Q179K|CORIN_uc011bzh.1_Missense_Mutation_p.Q246K|CORIN_uc011bzi.1_Missense_Mutation_p.Q246K|CORIN_uc003gxn.3_Missense_Mutation_p.Q246K NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 246 Extracellular (Potential).|FZ 1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 CTTTCAGTTTGGTTTCTAAAC 0.433 7 177 --- --- --- --- PASS AREG 374 broad.mit.edu 37 4 75312497 75312497 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr4:75312497G>T uc011cbl.1 + 2 518 c.308G>T c.(307-309)AGA>ATA p.R103I NM_001657 NP_001648 P15514 AREG_HUMAN amphiregulin preproprotein 103 cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication cell surface|extracellular space|integral to membrane cytokine activity|growth factor activity 0 Lung(101;0.196) GATTCAGTCAGAGGTGAGTAG 0.448 6 139 --- --- --- --- PASS MTTP 4547 broad.mit.edu 37 4 100504545 100504545 + Silent SNP T C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr4:100504545T>C uc003hvc.3 + 4 520 c.264T>C c.(262-264)AAT>AAC p.N88N MTTP_uc011cej.1_Silent_p.N115N|MTTP_uc003hvb.2_Silent_p.N88N NM_000253 NP_000244 P55157 MTP_HUMAN microsomal triglyceride transfer protein large 88 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) AGGATGTAAATGTTGAAAATG 0.343 12 124 --- --- --- --- PASS DKK2 27123 broad.mit.edu 37 4 107847083 107847083 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr4:107847083C>A uc003hyi.2 - 2 951 c.246G>T c.(244-246)AAG>AAT p.K82N DKK2_uc010ilw.1_RNA|DKK2_uc003hyj.1_Missense_Mutation_p.K82N NM_014421 NP_055236 Q9UBU2 DKK2_HUMAN dickkopf homolog 2 precursor 82 DKK-type Cys-1. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space ovary(3)|lung(1)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) CTTCACACTCCTTATCACTGC 0.468 5 44 --- --- --- --- PASS QRFPR 84109 broad.mit.edu 37 4 122261669 122261669 + Missense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr4:122261669C>T uc010inj.1 - 2 816 c.437G>A c.(436-438)GGA>GAA p.G146E QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Missense_Mutation_p.G146E|QRFPR_uc010inl.1_Missense_Mutation_p.G146E NM_198179 NP_937822 Q96P65 QRFPR_HUMAN G protein-coupled receptor 103 146 Cytoplasmic (Potential). plasma membrane neuropeptide Y receptor activity 0 ATGCACAAGTCCCTGGTGCCT 0.488 10 26 --- --- --- --- PASS SMARCA5 8467 broad.mit.edu 37 4 144457612 144457612 + Silent SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr4:144457612C>A uc003ijg.2 + 11 1738 c.1276C>A c.(1276-1278)CGG>AGG p.R426R NM_003601 NP_003592 O60264 SMCA5_HUMAN SWI/SNF-related matrix-associated 426 CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding skin(1) 1 all_hematologic(180;0.158) TAGGTATACTCGGATATTAAT 0.363 4 36 --- --- --- --- PASS FBXW7 55294 broad.mit.edu 37 4 153245437 153245437 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr4:153245437C>G uc003ims.2 - 11 1903 c.1754G>C c.(1753-1755)AGT>ACT p.S585T FBXW7_uc011cii.1_Missense_Mutation_p.S585T|FBXW7_uc003imt.2_Missense_Mutation_p.S585T|FBXW7_uc011cih.1_Missense_Mutation_p.S409T|FBXW7_uc003imq.2_Missense_Mutation_p.S505T|FBXW7_uc003imr.2_Missense_Mutation_p.S467T NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 585 WD 6. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TTCCATTCCACTTGTTAACGA 0.413 Mis|N|D|F colorectal|endometrial|T-ALL 3 19 --- --- --- --- PASS WDR17 116966 broad.mit.edu 37 4 177052851 177052851 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr4:177052851G>T uc003iuj.2 + 8 1288 c.1132G>T c.(1132-1134)GAT>TAT p.D378Y WDR17_uc003iuk.2_Missense_Mutation_p.D354Y|WDR17_uc003ium.3_Missense_Mutation_p.D354Y|WDR17_uc003iul.1_Intron NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 378 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TGGACTTTATGATATGGGAGC 0.383 34 84 --- --- --- --- PASS SNX25 83891 broad.mit.edu 37 4 186263206 186263206 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr4:186263206C>G uc003ixh.2 + 12 1820 c.1631C>G c.(1630-1632)ACT>AGT p.T544S SNX25_uc010ish.2_Missense_Mutation_p.T315S|SNX25_uc003ixi.2_Missense_Mutation_p.T48S NM_031953 NP_114159 Q9H3E2 SNX25_HUMAN sorting nexin 25 544 PX. cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity ovary(2)|breast(2)|pancreas(1) 5 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) GGAGTTGAAACTAAGAACTGG 0.423 32 106 --- --- --- --- PASS SLC6A18 348932 broad.mit.edu 37 5 1232344 1232344 + Silent SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr5:1232344C>T uc003jby.1 + 2 294 c.171C>T c.(169-171)CTC>CTT p.L57L NM_182632 NP_872438 Q96N87 S6A18_HUMAN solute carrier family 6, member 18 57 Helical; Name=2; (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(1) 1 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GGGCCTTCCTCATCCCCTACG 0.687 4 7 --- --- --- --- PASS CARD6 84674 broad.mit.edu 37 5 40852313 40852313 + Missense_Mutation SNP G C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr5:40852313G>C uc003jmg.2 + 3 954 c.879G>C c.(877-879)TTG>TTC p.L293F NM_032587 NP_115976 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 293 apoptosis|regulation of apoptosis intracellular ovary(2)|skin(2)|lung(1) 5 TGTTATGTTTGAACATGGATA 0.393 10 41 --- --- --- --- PASS CCDC125 202243 broad.mit.edu 37 5 68616152 68616152 + Silent SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr5:68616152C>A uc003jvv.1 - 1 259 c.216G>T c.(214-216)GCG>GCT p.A72A CCDC125_uc003jvx.1_Silent_p.A72A|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_5'UTR|CCDC125_uc003jvz.1_Silent_p.A72A NM_176816 NP_789786 Q86Z20 CC125_HUMAN coiled-coil domain containing 125 72 cytoplasm 0 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) ACTGAAAACTCGCTTCATTTC 0.388 4 133 --- --- --- --- PASS BDP1 55814 broad.mit.edu 37 5 70835476 70835476 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr5:70835476G>T uc003kbp.1 + 28 6285 c.6022G>T c.(6022-6024)GTA>TTA p.V2008L BDP1_uc003kbo.2_Missense_Mutation_p.V2008L|BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_Intron NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 2008 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) ACAGGGTGATGGTAAGAATGA 0.358 7 25 --- --- --- --- PASS BDP1 55814 broad.mit.edu 37 5 70855849 70855849 + Silent SNP A C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr5:70855849A>C uc003kbp.1 + 37 7544 c.7281A>C c.(7279-7281)GGA>GGC p.G2427G BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 2427 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TTACCTCAGGAAGCACACTGA 0.418 14 63 --- --- --- --- PASS MRPS27 23107 broad.mit.edu 37 5 71521968 71521968 + Nonsense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr5:71521968C>T uc003kbz.3 - 9 789 c.753G>A c.(751-753)TGG>TGA p.W251* MRPS27_uc003kca.3_Nonsense_Mutation_p.W195*|MRPS27_uc011cse.1_Nonsense_Mutation_p.W265*|MRPS27_uc011csd.1_Nonsense_Mutation_p.W32*|MRPS27_uc010iyz.1_RNA NM_015084 NP_055899 Q92552 RT27_HUMAN mitochondrial ribosomal protein S27 251 mitochondrion|ribosome 0 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.46e-53) AGCCTGGTTTCCATATCAGAG 0.498 14 42 --- --- --- --- PASS HMGCR 3156 broad.mit.edu 37 5 74654482 74654482 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr5:74654482G>T uc003kdp.2 + 16 2143 c.1987G>T c.(1987-1989)GGT>TGT p.G663C HMGCR_uc011cst.1_Missense_Mutation_p.G683C|HMGCR_uc003kdq.2_Missense_Mutation_p.G610C|HMGCR_uc010izo.2_5'UTR|HMGCR_uc010izp.2_5'UTR NM_000859 NP_000850 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-Coenzyme A reductase 663 Catalytic. cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding ovary(1) 1 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) TTGTTAACAGGGTACAGAGAA 0.348 5 66 --- --- --- --- PASS BHMT 635 broad.mit.edu 37 5 78423633 78423633 + Silent SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr5:78423633C>A uc003kfu.3 + 7 969 c.864C>A c.(862-864)GCC>GCA p.A288A BHMT_uc011cti.1_Silent_p.A135A NM_001713 NP_001704 Q93088 BHMT1_HUMAN betaine-homocysteine methyltransferase 288 Hcy-binding. protein methylation|regulation of homocysteine metabolic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding ovary(1) 1 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36) L-Methionine(DB00134) CCAGAGAGGCCTACAACCTGG 0.502 11 36 --- --- --- --- PASS HAPLN1 1404 broad.mit.edu 37 5 82948608 82948608 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr5:82948608G>T uc003kim.2 - 2 207 c.136C>A c.(136-138)CAA>AAA p.Q46K HAPLN1_uc003kin.2_Missense_Mutation_p.Q46K NM_001884 NP_001875 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 46 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding large_intestine(3)|ovary(1)|skin(1) 5 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) ACCTTGGCTTGCTCTGCTTCC 0.353 11 29 --- --- --- --- PASS PPIP5K2 23262 broad.mit.edu 37 5 102513644 102513644 + Missense_Mutation SNP T C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr5:102513644T>C uc003kod.3 + 23 3236 c.2717T>C c.(2716-2718)TTG>TCG p.L906S PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.L906S|PPIP5K2_uc003kof.2_Missense_Mutation_p.L207S NM_015216 NP_056031 O43314 VIP2_HUMAN Histidine acid phosphatase domain containing 1 906 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity ovary(1)|skin(1) 2 GACAAAAATTTGCCATCTGGC 0.393 8 87 --- --- --- --- PASS ADAMTS19 171019 broad.mit.edu 37 5 129015459 129015459 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr5:129015459C>A uc003kvb.1 + 17 2491 c.2491C>A c.(2491-2493)CTC>ATC p.L831I ADAMTS19_uc010jdh.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 831 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) CTTTATAGCTCTCCGAGATGC 0.348 15 51 --- --- --- --- PASS REEP2 51308 broad.mit.edu 37 5 137780462 137780462 + Missense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr5:137780462C>T uc003lcz.2 + 5 445 c.323C>T c.(322-324)ACG>ATG p.T108M REEP2_uc003lda.2_Missense_Mutation_p.T108M|REEP2_uc011cyt.1_Missense_Mutation_p.T69M NM_016606 NP_057690 Q9BRK0 REEP2_HUMAN receptor accessory protein 2 108 integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GAGTACATCACGCAGGCCCGA 0.602 7 29 --- --- --- --- PASS PCDHB10 56126 broad.mit.edu 37 5 140572150 140572150 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr5:140572150C>A uc003lix.2 + 1 199 c.25C>A c.(25-27)CCA>ACA p.P9T NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 9 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTTGTGCTTCCCAAGACAAAG 0.473 6 87 --- --- --- --- PASS PCDHGA9 56107 broad.mit.edu 37 5 140784058 140784058 + Silent SNP G C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr5:140784058G>C uc003lkh.1 + 1 1539 c.1539G>C c.(1537-1539)GTG>GTC p.V513V 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_uc011dax.1_Silent_p.V513V NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 513 Extracellular (Potential).|Cadherin 5. 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) ACACTGGTGTGCTGTATGCTC 0.458 9 43 --- --- --- --- PASS PDE6A 5145 broad.mit.edu 37 5 149276332 149276332 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr5:149276332C>A uc003lrg.3 - 11 1535 c.1415G>T c.(1414-1416)AGA>ATA p.R472I NM_000440 NP_000431 P16499 PDE6A_HUMAN phosphodiesterase 6A 472 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) ATACACCTCTCTGGTTTTCTG 0.522 6 138 --- --- --- --- PASS HMMR 3161 broad.mit.edu 37 5 162910151 162910151 + Missense_Mutation SNP G C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr5:162910151G>C uc003lzf.2 + 14 1837 c.1655G>C c.(1654-1656)AGA>ACA p.R552T HMMR_uc003lzh.2_Missense_Mutation_p.R553T|HMMR_uc003lzg.2_Missense_Mutation_p.R537T|HMMR_uc011dem.1_Missense_Mutation_p.R466T|uc003lzi.2_RNA NM_012484 NP_036616 O75330 HMMR_HUMAN hyaluronan-mediated motility receptor isoform b 552 cell surface|cytoplasm hyaluronic acid binding 0 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) GAAGACTTTAGAAAACAGCTG 0.333 19 66 --- --- --- --- PASS SLC22A23 63027 broad.mit.edu 37 6 3287237 3287237 + Missense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr6:3287237C>T uc003mvm.3 - 7 1402 c.1402G>A c.(1402-1404)GAC>AAC p.D468N uc003mvi.1_RNA|SLC22A23_uc003mvn.3_Missense_Mutation_p.D187N|SLC22A23_uc003mvo.3_Missense_Mutation_p.D187N|SLC22A23_uc003mvp.1_RNA|SLC22A23_uc010jnn.2_Missense_Mutation_p.D468N|SLC22A23_uc003mvq.1_RNA NM_015482 NP_056297 A1A5C7 S22AN_HUMAN solute carrier family 22, member 23 isoform a 468 Helical; (Potential). ion transport integral to membrane transmembrane transporter activity ovary(1) 1 Ovarian(93;0.0493) all_hematologic(90;0.0905) GTATAGTAGTCAGCATAGAAG 0.612 13 27 --- --- --- --- PASS HIST1H4H 8365 broad.mit.edu 37 6 26285637 26285637 + Missense_Mutation SNP T C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr6:26285637T>C uc003nhm.2 - 1 91 c.91A>G c.(91-93)ACT>GCT p.T31A HIST1H4H_uc003nhl.1_RNA NM_003543 NP_003534 P62805 H4_HUMAN histone cluster 1, H4h 31 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(2) 2 GCTGGCTTAGTGATGCCCTGG 0.532 HNSCC(76;0.23) 24 52 --- --- --- --- PASS HIST1H4I 8294 broad.mit.edu 37 6 27107140 27107140 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr6:27107140G>T uc003niy.1 + 1 53 c.53G>T c.(52-54)CGC>CTC p.R18L HIST1H2BK_uc003nix.1_Intron NM_003495 NP_003486 P62805 H4_HUMAN histone cluster 1, H4i 18 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding lung(1) 1 GGTGCCAAGCGCCACCGCAAG 0.607 T BCL6 NHL 6 17 --- --- --- --- PASS BAT4 7918 broad.mit.edu 37 6 31630476 31630476 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr6:31630476G>T uc003nvn.2 - 3 1283 c.638C>A c.(637-639)CCC>CAC p.P213H C6orf47_uc003nvm.1_5'Flank|BAT4_uc003nvo.3_Missense_Mutation_p.P213H|BAT4_uc003nvp.3_Missense_Mutation_p.P213H|BAT4_uc003nvq.2_Missense_Mutation_p.P213H NM_033177 NP_149417 O95872 GPAN1_HUMAN HLA-B associated transcript 4 213 intracellular nucleic acid binding 0 CTGGAGGGAGGGAGTAGGAGA 0.557 6 109 --- --- --- --- PASS EHMT2 10919 broad.mit.edu 37 6 31864517 31864517 + Nonsense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr6:31864517G>T uc003nxz.1 - 3 204 c.194C>A c.(193-195)TCA>TAA p.S65* EHMT2_uc003nxy.1_5'UTR|EHMT2_uc011don.1_Nonsense_Mutation_p.S122*|EHMT2_uc003nya.1_Nonsense_Mutation_p.S65*|EHMT2_uc003nyb.1_Nonsense_Mutation_p.S65*|C2_uc003nyc.2_5'Flank|C2_uc011doo.1_5'Flank NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 65 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding ovary(1) 1 GGCTGGAGATGAGGGGCCAGC 0.577 5 69 --- --- --- --- PASS SKIV2L 6499 broad.mit.edu 37 6 31937152 31937152 + Silent SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr6:31937152G>A uc003nyn.1 + 27 3884 c.3495G>A c.(3493-3495)CTG>CTA p.L1165L SKIV2L_uc011dou.1_Silent_p.L1007L|SKIV2L_uc011dov.1_Silent_p.L972L|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank|STK19_uc010jtn.1_5'Flank NM_006929 NP_008860 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like homolog 1165 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 TGGGGGAGCTGAATTTTGGGC 0.582 7 31 --- --- --- --- PASS ATF6B 1388 broad.mit.edu 37 6 32088564 32088564 + Silent SNP G T T rs140760727 TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr6:32088564G>T uc003nzn.2 - 8 849 c.816C>A c.(814-816)CTC>CTA p.L272L ATF6B_uc003nzm.1_5'Flank|ATF6B_uc003nzo.2_Silent_p.L269L|ATF6B_uc003nzp.1_5'Flank|ATF6B_uc011dpg.1_Silent_p.L206L|ATF6B_uc011dph.1_Silent_p.L272L NM_004381 NP_004372 Q99941 ATF6B_HUMAN activating transcription factor 6 beta isoform 272 Cytoplasmic (Potential). response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GTGGCTGGACGAGGGACTGCA 0.408 6 152 --- --- --- --- PASS RGL2 5863 broad.mit.edu 37 6 33262491 33262491 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr6:33262491C>G uc003odv.2 - 11 1460 c.1327G>C c.(1327-1329)GAT>CAT p.D443H RGL2_uc003odu.2_Missense_Mutation_p.D3H|RGL2_uc010jur.2_Missense_Mutation_p.D3H|RGL2_uc003odw.2_Missense_Mutation_p.D361H|RGL2_uc011drb.1_Missense_Mutation_p.D361H NM_004761 NP_004752 O15211 RGL2_HUMAN ral guanine nucleotide dissociation 443 Ras-GEF. Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity skin(3)|lung(1)|breast(1)|pancreas(1) 6 GAGGCTGCATCCAGCATCACA 0.587 44 52 --- --- --- --- PASS KIF6 221458 broad.mit.edu 37 6 39330271 39330271 + Missense_Mutation SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr6:39330271G>A uc003oot.2 - 17 1980 c.1885C>T c.(1885-1887)CCT>TCT p.P629S KIF6_uc003oos.2_Missense_Mutation_p.P80S|KIF6_uc010jwz.1_Missense_Mutation_p.P4S|KIF6_uc010jxa.1_Missense_Mutation_p.P420S|KIF6_uc011dua.1_Missense_Mutation_p.P612S|KIF6_uc010jxb.1_Missense_Mutation_p.P573S NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN kinesin family member 6 629 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1) 3 GGCATCAGAGGCACGGCCATG 0.517 OREG0017415 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 85 57 --- --- --- --- PASS GPR116 221395 broad.mit.edu 37 6 46847578 46847578 + Missense_Mutation SNP T C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr6:46847578T>C uc003oyo.3 - 9 1302 c.1013A>G c.(1012-1014)CAC>CGC p.H338R GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.H338R|GPR116_uc010jzi.1_Missense_Mutation_p.H10R|GPR116_uc003oyr.2_Missense_Mutation_p.H338R NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 338 Ig-like 1.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|skin(1) 2 Lung(136;0.192) AGTGATGTTGTGGATGGTGAG 0.423 15 38 --- --- --- --- PASS PAQR8 85315 broad.mit.edu 37 6 52268164 52268164 + Silent SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr6:52268164C>T uc003pao.3 + 2 327 c.153C>T c.(151-153)ATC>ATT p.I51I NM_133367 NP_588608 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member 51 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding 0 Lung NSC(77;0.0875) AGCCTTACATCCGCACCGGCT 0.602 6 12 --- --- --- --- PASS C6orf167 253714 broad.mit.edu 37 6 97676876 97676876 + Missense_Mutation SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr6:97676876G>A uc003ppb.2 - 14 2199 c.1933C>T c.(1933-1935)CAT>TAT p.H645Y C6orf167_uc011eaf.1_Missense_Mutation_p.H605Y NM_198468 NP_940870 Q6ZRQ5 MMS22_HUMAN hypothetical protein LOC253714 645 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding 0 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198) BRCA - Breast invasive adenocarcinoma(108;0.0457) AGTTTTTCATGGGAAGGATAC 0.423 21 73 --- --- --- --- PASS MCHR2 84539 broad.mit.edu 37 6 100390823 100390823 + Splice_Site SNP A C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr6:100390823A>C uc003pqh.1 - 4 902 c.587_splice c.e4+1 p.W196_splice MCHR2_uc003pqi.1_Splice_Site_p.W196_splice NM_001040179 NP_001035269 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 integral to membrane|plasma membrane G-protein coupled receptor activity lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 8 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) TTCACAACTTACCAGAGTACA 0.413 21 31 --- --- --- --- PASS SIM1 6492 broad.mit.edu 37 6 100838803 100838803 + Nonsense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr6:100838803C>A uc003pqj.3 - 11 1942 c.1735G>T c.(1735-1737)GAG>TAG p.E579* SIM1_uc010kcu.2_Nonsense_Mutation_p.E579* NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 579 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.E579D(1) ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) AATCTGTTCTCTTCTTCTTTA 0.443 5 77 --- --- --- --- PASS LAMA4 3910 broad.mit.edu 37 6 112506499 112506499 + Missense_Mutation SNP G C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr6:112506499G>C uc003pvu.2 - 9 1326 c.1017C>G c.(1015-1017)ATC>ATG p.I339M LAMA4_uc003pvv.2_Missense_Mutation_p.I332M|LAMA4_uc003pvt.2_Missense_Mutation_p.I332M NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 339 Potential.|Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CAGCATTGTTGATTTGTATCT 0.383 30 174 --- --- --- --- PASS ROS1 6098 broad.mit.edu 37 6 117707019 117707019 + Missense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr6:117707019C>T uc003pxp.1 - 15 2330 c.2131G>A c.(2131-2133)GAT>AAT p.D711N ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 711 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TTATACCAATCCATGTCTCAA 0.378 T GOPC|ROS1 glioblastoma|NSCLC 11 49 --- --- --- --- PASS GPR126 57211 broad.mit.edu 37 6 142764490 142764490 + Nonsense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr6:142764490C>T uc010khc.2 + 26 4048 c.3637C>T c.(3637-3639)CAA>TAA p.Q1213* GPR126_uc010khd.2_Nonsense_Mutation_p.Q1185*|GPR126_uc010khe.2_Silent_p.D1197D|GPR126_uc010khf.2_Silent_p.D1169D|GPR126_uc011edv.1_Silent_p.D257D NM_020455 NP_065188 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 alpha 1 1213 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) CTTCCATGGACAAGTCCTTGT 0.438 29 250 --- --- --- --- PASS HIVEP2 3097 broad.mit.edu 37 6 143090845 143090845 + Silent SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr6:143090845G>T uc003qjd.2 - 5 5774 c.5031C>A c.(5029-5031)TCC>TCA p.S1677S NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 1677 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TTGGATTACAGGAACTAATGC 0.433 7 126 --- --- --- --- PASS ARID1B 57492 broad.mit.edu 37 6 157528347 157528347 + Silent SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr6:157528347G>T uc003qqn.2 + 20 6170 c.6018G>T c.(6016-6018)ACG>ACT p.T2006T ARID1B_uc003qqo.2_Silent_p.T1966T|ARID1B_uc003qqp.2_Silent_p.T1953T NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 2011 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GGGATAACACGTTGGTCACGT 0.542 17 74 --- --- --- --- PASS C6orf35 729515 broad.mit.edu 37 6 157743751 157743751 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr6:157743751C>G uc003sih.3 - 2 438 c.175G>C c.(175-177)GAA>CAA p.E59Q NM_018452 NP_060922 Q9NWH2 CF035_HUMAN hypothetical protein LOC729515 59 integral to membrane 0 TTGAACCATTCAGGGCTTTTC 0.373 51 89 --- --- --- --- PASS MAS1 4142 broad.mit.edu 37 6 160328351 160328351 + Silent SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr6:160328351C>T uc003qsz.2 + 1 378 c.364C>T c.(364-366)CTG>TTG p.L122L NM_002377 NP_002368 P04201 MAS_HUMAN MAS1 oncogene 122 Helical; Name=3; (Potential). anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade integral to plasma membrane angiotensin type II receptor activity ovary(2)|lung(2) 4 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06) GGGCCTCTATCTGCTGACGGC 0.488 27 118 --- --- --- --- PASS SMOC2 64094 broad.mit.edu 37 6 169053880 169053880 + Missense_Mutation SNP C G G rs151010390 TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr6:169053880C>G uc003qws.1 + 11 1277 c.1257C>G c.(1255-1257)GAC>GAG p.D419E SMOC2_uc003qwr.1_Missense_Mutation_p.D430E|SMOC2_uc011egu.1_Missense_Mutation_p.D96E NM_022138 NP_071421 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 419 EF-hand 2. signal transduction basement membrane calcium ion binding ovary(1) 1 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) CGAAAGAGGACGGCAAAGCGG 0.527 9 54 --- --- --- --- PASS ANKMY2 57037 broad.mit.edu 37 7 16644386 16644386 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr7:16644386C>A uc003sti.2 - 8 1171 c.971G>T c.(970-972)GGA>GTA p.G324V ANKMY2_uc010ktz.2_RNA NM_020319 NP_064715 Q8IV38 ANKY2_HUMAN ankyrin repeat and MYND domain containing 2 324 MYND-type. cilium zinc ion binding central_nervous_system(1) 1 Lung NSC(10;0.103)|all_lung(11;0.204) UCEC - Uterine corpus endometrioid carcinoma (126;0.195) TCCCTTTTCTCCACAGGTAGT 0.453 30 58 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21721271 21721271 + Silent SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr7:21721271G>T uc003svc.2 + 31 5482 c.5451G>T c.(5449-5451)GTG>GTT p.V1817V NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1817 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CCAGAGACGTGGTGGCAAAAC 0.393 Kartagener_syndrome 5 101 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21805045 21805045 + Splice_Site SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr7:21805045G>T uc003svc.2 + 56 8993 c.8962_splice c.e56-1 p.I2988_splice NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TGTCTCCACAGATCATTTTGT 0.483 Kartagener_syndrome 31 94 --- --- --- --- PASS ADCY1 107 broad.mit.edu 37 7 45649987 45649987 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr7:45649987C>A uc003tne.3 + 3 817 c.799C>A c.(799-801)CTC>ATC p.L267I ADCY1_uc003tnd.2_Missense_Mutation_p.L42I NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 267 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GGAGCGGCTCCTCATGAGCCT 0.622 6 84 --- --- --- --- PASS SBDS 51119 broad.mit.edu 37 7 66453478 66453478 + Silent SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr7:66453478C>G uc003tvm.1 - 5 817 c.633G>C c.(631-633)CTG>CTC p.L211L NM_016038 NP_057122 Q9Y3A5 SBDS_HUMAN Shwachman-Bodian-Diamond syndrome protein 211 bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing cytoplasm|nucleolus|nucleoplasm|spindle pole microtubule binding|ribosome binding|rRNA binding ovary(1) 1 CCGGGTCAATCAGACATACCT 0.398 Gene Conversion AML|MDS Shwachman-Diamond_syndrome 8 40 --- --- --- --- PASS STYXL1 51657 broad.mit.edu 37 7 75634626 75634626 + Missense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr7:75634626C>T uc003uej.3 - 6 723 c.550G>A c.(550-552)GAC>AAC p.D184N STYXL1_uc003uef.2_5'UTR|STYXL1_uc011kgf.1_Missense_Mutation_p.D46N|STYXL1_uc011kgg.1_Missense_Mutation_p.D36N|STYXL1_uc003ueh.2_Missense_Mutation_p.D46N|STYXL1_uc003uek.3_Missense_Mutation_p.D88N|STYXL1_uc003uel.2_Missense_Mutation_p.D184N|STYXL1_uc003uem.2_Missense_Mutation_p.D184N|STYXL1_uc010ldg.1_RNA|STYXL1_uc010ldh.1_Missense_Mutation_p.D184N|STYXL1_uc003uen.1_Missense_Mutation_p.D184N NM_016086 NP_057170 Q9Y6J8 STYL1_HUMAN map kinase phosphatase-like protein MK-STYX 184 Tyrosine-protein phosphatase. intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity 0 ATTTTCAAGTCCTTCTGAATC 0.393 11 38 --- --- --- --- PASS SEMA3E 9723 broad.mit.edu 37 7 82997159 82997159 + Missense_Mutation SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr7:82997159G>A uc003uhy.1 - 17 2537 c.2071C>T c.(2071-2073)CAT>TAT p.H691Y NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 691 axon guidance extracellular space|membrane receptor activity ovary(3) 3 Medulloblastoma(109;0.109) ATCCTGTGATGCCTGTCCTCC 0.483 10 58 --- --- --- --- PASS GRM3 2913 broad.mit.edu 37 7 86468972 86468972 + Silent SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr7:86468972C>T uc003uid.2 + 4 3241 c.2142C>T c.(2140-2142)ACC>ACT p.T714T GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Silent_p.T586T|GRM3_uc010leh.2_Silent_p.T306T NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 714 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CCCCAGGCACCAGGAGGTATA 0.498 11 47 --- --- --- --- PASS RUNDC3B 154661 broad.mit.edu 37 7 87459208 87459208 + Missense_Mutation SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr7:87459208G>A uc003ujb.2 + 12 1696 c.1285G>A c.(1285-1287)GAT>AAT p.D429N RUNDC3B_uc011khe.1_Missense_Mutation_p.D412N|RUNDC3B_uc003ujc.2_Missense_Mutation_p.D363N|RUNDC3B_uc003ujd.2_Missense_Mutation_p.D285N NM_138290 NP_612147 Q96NL0 RUN3B_HUMAN RUN domain containing 3B isoform a 429 skin(1) 1 Esophageal squamous(14;0.00164) AGGTAAGGAAGATACTCCCTC 0.323 5 99 --- --- --- --- PASS AKAP9 10142 broad.mit.edu 37 7 91709170 91709170 + Nonsense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr7:91709170C>T uc003ulg.2 + 31 7948 c.7723C>T c.(7723-7725)CAA>TAA p.Q2575* AKAP9_uc003ulf.2_Nonsense_Mutation_p.Q2567*|AKAP9_uc003uli.2_Nonsense_Mutation_p.Q2198*|AKAP9_uc003ulj.2_Nonsense_Mutation_p.Q345* NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 2587 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TCAAGATAATCAAACAATTTC 0.343 T BRAF papillary thyroid 13 79 --- --- --- --- PASS PON2 5445 broad.mit.edu 37 7 95034736 95034736 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr7:95034736C>A uc003unv.2 - 9 1092 c.971G>T c.(970-972)GGG>GTG p.G324V PON2_uc003unu.2_Missense_Mutation_p.G312V|PON2_uc010lfk.2_RNA|PON2_uc003unw.2_Missense_Mutation_p.G237V NM_000305 NP_000296 Q15165 PON2_HUMAN paraoxonase 2 isoform 1 324 aromatic compound catabolic process extracellular region|plasma membrane arylesterase activity|identical protein binding|metal ion binding 0 all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09) STAD - Stomach adenocarcinoma(171;0.0151) GAGAACAGACCCATTGTTGGC 0.423 6 110 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100676099 100676099 + Missense_Mutation SNP G C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr7:100676099G>C uc003uxp.1 + 3 1455 c.1402G>C c.(1402-1404)GAG>CAG p.E468Q MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 468 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|5. 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) GGCCAGTTCTGAGGCTAGCAA 0.478 15 243 --- --- --- --- PASS GPR85 54329 broad.mit.edu 37 7 112724255 112724255 + Missense_Mutation SNP G C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr7:112724255G>C uc010ljv.2 - 2 1039 c.522C>G c.(520-522)TTC>TTG p.F174L GPR85_uc003vgp.1_Missense_Mutation_p.F174L|GPR85_uc003vgq.2_Missense_Mutation_p.F174L|GPR85_uc010ljw.1_Missense_Mutation_p.F174L NM_001146266 NP_001139738 P60893 GPR85_HUMAN G protein-coupled receptor 85 174 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|central_nervous_system(1) 2 AGCGGTGTTGGAAGGTGCATT 0.478 18 44 --- --- --- --- PASS ZC3HAV1 56829 broad.mit.edu 37 7 138764611 138764611 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr7:138764611C>A uc003vun.2 - 4 1464 c.1076G>T c.(1075-1077)TGG>TTG p.W359L ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Missense_Mutation_p.W359L NM_020119 NP_064504 Q7Z2W4 ZCCHV_HUMAN zinc finger antiviral protein isoform 1 359 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding ovary(1) 1 GAGGCTCTTCCAGTTGGGGGC 0.532 5 78 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149481129 149481129 + Missense_Mutation SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr7:149481129G>A uc010lpk.2 + 18 2611 c.2611G>A c.(2611-2613)GAG>AAG p.E871K SSPO_uc010lpl.1_Missense_Mutation_p.E206K NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 871 TIL 2. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GTGGGACCCTGAGGGCCAGTG 0.652 4 4 --- --- --- --- PASS SLC7A2 6542 broad.mit.edu 37 8 17409474 17409474 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr8:17409474C>G uc011kyc.1 + 6 1203 c.1034C>G c.(1033-1035)TCT>TGT p.S345C SLC7A2_uc011kyd.1_Missense_Mutation_p.S385C|SLC7A2_uc011kye.1_Missense_Mutation_p.S385C|SLC7A2_uc011kyf.1_Missense_Mutation_p.S345C NM_001008539 NP_001008539 P52569 CTR2_HUMAN solute carrier family 7, member 2 isoform 2 345 Helical; (Potential). cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity ovary(2)|skin(1) 3 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) GCAGCTGGTTCTCTCTGCGCC 0.488 12 19 --- --- --- --- PASS FNTA 2339 broad.mit.edu 37 8 42932394 42932394 + Silent SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr8:42932394G>T uc003xps.2 + 6 717 c.669G>T c.(667-669)GTG>GTT p.V223V FNTA_uc003xpt.2_Silent_p.V132V|FNTA_uc003xpu.2_Silent_p.V156V|FNTA_uc003xpv.2_RNA NM_002027 NP_002018 P49354 FNTA_HUMAN farnesyltransferase, CAAX box, alpha isoform a 223 PFTA 4. cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway cytosol|microtubule associated complex alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity ovary(1) 1 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) TGCAGTATGTGGACCAACTTC 0.328 4 51 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55542765 55542765 + Missense_Mutation SNP T A A rs145297510 TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr8:55542765T>A uc003xsd.1 + 4 6471 c.6323T>A c.(6322-6324)ATT>AAT p.I2108N RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 2108 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) CTCTTAGATATTTGCCAAGTT 0.348 10 32 --- --- --- --- PASS CHD7 55636 broad.mit.edu 37 8 61736458 61736458 + Silent SNP T A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr8:61736458T>A uc003xue.2 + 13 3738 c.3261T>A c.(3259-3261)ATT>ATA p.I1087I CHD7_uc003xuf.2_Silent_p.I200I NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1087 Helicase ATP-binding. 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) TTGAGATGATTTTGACTGATT 0.423 25 50 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77766782 77766782 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr8:77766782C>G uc003yav.2 + 10 7877 c.7490C>G c.(7489-7491)CCC>CGC p.P2497R ZFHX4_uc003yau.1_Missense_Mutation_p.P2542R|ZFHX4_uc003yaw.1_Missense_Mutation_p.P2497R NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2497 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) ATATTTGACCCCAACAATCCG 0.542 HNSCC(33;0.089) 21 111 --- --- --- --- PASS IMPA1 3612 broad.mit.edu 37 8 82571595 82571595 + Silent SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr8:82571595G>A uc003ych.2 - 9 952 c.825C>T c.(823-825)GAC>GAT p.D275D IMPA1_uc011lfq.1_Silent_p.D334D|IMPA1_uc011lfr.1_3'UTR NM_005536 NP_005527 P29218 IMPA1_HUMAN inositol(myo)-1(or 4)-monophosphatase 1 isoform 275 inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction cytoplasm inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity skin(1) 1 Lithium(DB01356) ATTAATCTTCGTCGTCTCGTT 0.373 6 48 --- --- --- --- PASS LRRCC1 85444 broad.mit.edu 37 8 86044014 86044014 + Nonsense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr8:86044014G>T uc003ycw.2 + 12 1940 c.1786G>T c.(1786-1788)GAG>TAG p.E596* LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_Nonsense_Mutation_p.E297*|LRRCC1_uc003ycx.2_Nonsense_Mutation_p.E503*|LRRCC1_uc003ycy.2_Nonsense_Mutation_p.E576* NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 596 Potential. cell division|mitosis centriole|nucleus 0 TGAAACAAGGGAGTTTTTTAC 0.333 5 32 --- --- --- --- PASS TMEM67 91147 broad.mit.edu 37 8 94792820 94792820 + Splice_Site SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr8:94792820G>T uc011lgk.1 + 8 786 c.715_splice c.e8-1 p.V239_splice TMEM67_uc010mat.1_Splice_Site_p.V154_splice|TMEM67_uc010maw.2_Intron|TMEM67_uc003yga.3_Splice_Site_p.V158_splice NM_153704 NP_714915 Q5HYA8 MKS3_HUMAN meckelin isoform 1 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding ovary(2) 2 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) TTCTGTTGTAGGTATATGCCA 0.323 6 149 --- --- --- --- PASS SLC30A8 169026 broad.mit.edu 37 8 118184913 118184913 + Missense_Mutation SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr8:118184913G>A uc003yoh.2 + 8 1333 c.1103G>A c.(1102-1104)TGT>TAT p.C368Y SLC30A8_uc010mcz.2_Missense_Mutation_p.C319Y|SLC30A8_uc011lia.1_Missense_Mutation_p.C319Y|SLC30A8_uc003yog.2_Missense_Mutation_p.C319Y NM_173851 NP_776250 Q8IWU4 ZNT8_HUMAN solute carrier family 30 member 8 368 Cytoplasmic (Potential). insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity ovary(2)|skin(2) 4 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) GAAGACCCCTGTGACTAGCTC 0.473 41 96 --- --- --- --- PASS BAI1 575 broad.mit.edu 37 8 143624969 143624969 + Missense_Mutation SNP T A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr8:143624969T>A uc003ywm.2 + 29 4640 c.4457T>A c.(4456-4458)ATG>AAG p.M1486K NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1486 Cytoplasmic (Potential).|Necessary for interaction with MAGI1. axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CAGAAGATCATGCACACCCGG 0.677 3 8 --- --- --- --- PASS RPS6 6194 broad.mit.edu 37 9 19376297 19376297 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr9:19376297C>A uc003znv.1 - 6 786 c.744G>T c.(742-744)CAG>CAT p.Q248H RPS6_uc003znu.1_Missense_Mutation_p.Q217H NM_001010 NP_001001 P62753 RS6_HUMAN ribosomal protein S6 248 endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding ovary(1) 1 Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255) Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234) AATCTTATTTCTGACTGGATT 0.383 19 53 --- --- --- --- PASS TOPORS 10210 broad.mit.edu 37 9 32542506 32542506 + Missense_Mutation SNP G T T rs140126403 TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr9:32542506G>T uc003zrb.2 - 3 2184 c.2017C>A c.(2017-2019)CGT>AGT p.R673S TOPORS_uc003zrc.2_Missense_Mutation_p.R606S NM_005802 NP_005793 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich 673 Interaction with TOP1.|Arg-rich.|Interaction with p53/TP53. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) TCACTGCTACGAGACCTTGAT 0.378 6 249 --- --- --- --- PASS NFX1 4799 broad.mit.edu 37 9 33318767 33318767 + Nonsense_Mutation SNP G T T rs142065044 TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr9:33318767G>T uc003zsq.2 + 8 1688 c.1627G>T c.(1627-1629)GGA>TGA p.G543* SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Nonsense_Mutation_p.G543*|NFX1_uc003zso.2_Nonsense_Mutation_p.G543*|NFX1_uc003zsp.1_Nonsense_Mutation_p.G543*|NFX1_uc010mjr.1_Nonsense_Mutation_p.G543*|NFX1_uc003zsr.2_Nonsense_Mutation_p.G543* NM_002504 NP_002495 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 543 inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) TGTGTTATGTGGAACCGATGT 0.383 6 185 --- --- --- --- PASS PRSS3 5646 broad.mit.edu 37 9 33797929 33797929 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr9:33797929G>T uc003ztj.3 + 3 474 c.474G>T c.(472-474)AGG>AGT p.R158S uc003ztk.1_Intron|PRSS3_uc003zti.3_Missense_Mutation_p.R115S|PRSS3_uc003ztl.3_Missense_Mutation_p.R101S NM_007343 NP_031369 P35030 TRY3_HUMAN mesotrypsin isoform 1 preproprotein 158 Peptidase S1. digestion|endothelial cell migration|zymogen activation extracellular space calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity 0 LUSC - Lung squamous cell carcinoma(29;0.0176) AATACAACAGGGACACTCTGG 0.547 6 157 --- --- --- --- PASS C9orf79 286234 broad.mit.edu 37 9 90501472 90501472 + Silent SNP T C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr9:90501472T>C uc004app.3 + 4 2105 c.2070T>C c.(2068-2070)GAT>GAC p.D690D C9orf79_uc004apo.1_Silent_p.D502D NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 690 integral to membrane ovary(3) 3 GCAGGAAGGATGTGCAGAAGA 0.607 12 50 --- --- --- --- PASS ABCA2 20 broad.mit.edu 37 9 139916916 139916916 + Missense_Mutation SNP G C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr9:139916916G>C uc011mem.1 - 5 599 c.451C>G c.(451-453)CTG>GTG p.L151V ABCA2_uc011mel.1_Missense_Mutation_p.L152V|ABCA2_uc004ckl.1_Missense_Mutation_p.L82V|ABCA2_uc004ckm.1_Missense_Mutation_p.L182V|ABCA2_uc004cko.1_5'UTR|ABCA2_uc010nca.2_Missense_Mutation_p.L82V NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 151 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) ACCGAGTCCAGAGAGAAGGAA 0.637 5 6 --- --- --- --- PASS IPMK 253430 broad.mit.edu 37 10 59956140 59956140 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr10:59956140C>G uc001jkb.2 - 6 1271 c.948G>C c.(946-948)AAG>AAC p.K316N NM_152230 NP_689416 Q8NFU5 IPMK_HUMAN inositol polyphosphate multikinase 316 nucleus ATP binding|inositol trisphosphate 6-kinase activity ovary(1) 1 GCGCATACATCTTGGACAAGC 0.378 24 50 --- --- --- --- PASS CCAR1 55749 broad.mit.edu 37 10 70513624 70513624 + Missense_Mutation SNP G C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr10:70513624G>C uc001joo.2 + 11 1253 c.1134G>C c.(1132-1134)ATG>ATC p.M378I CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Missense_Mutation_p.M183I|CCAR1_uc009xpx.1_Missense_Mutation_p.M352I|CCAR1_uc001jon.1_Missense_Mutation_p.M324I|CCAR1_uc010qiz.1_Missense_Mutation_p.M363I|CCAR1_uc010qja.1_Missense_Mutation_p.M363I|CCAR1_uc010qjb.1_RNA|SNORD98_uc001jop.1_5'Flank NM_018237 NP_060707 Q8IX12 CCAR1_HUMAN cell-cycle and apoptosis regulatory protein 1 378 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding ovary(6)|large_intestine(1) 7 GTTGTGACATGATGGAACTAA 0.343 23 57 --- --- --- --- PASS KIAA1279 26128 broad.mit.edu 37 10 70775423 70775423 + Missense_Mutation SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr10:70775423G>A uc001joy.2 + 7 1213 c.1117G>A c.(1117-1119)GCC>ACC p.A373T NM_015634 NP_056449 Q96EK5 KBP_HUMAN KIF1 binding protein 373 cell differentiation|mitochondrial transport|nervous system development mitochondrion kinesin binding ovary(1) 1 ACTGTGTGATGCCATCTCTGC 0.413 20 72 --- --- --- --- PASS MMRN2 79812 broad.mit.edu 37 10 88703344 88703344 + Silent SNP C T T rs140752811 TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr10:88703344C>T uc001kea.2 - 6 1324 c.1197G>A c.(1195-1197)GAG>GAA p.E399E MMRN2_uc010qmn.1_Silent_p.E42E|MMRN2_uc009xtb.2_Silent_p.E356E NM_024756 NP_079032 Q9H8L6 MMRN2_HUMAN multimerin 2 precursor 399 Potential. extracellular space large_intestine(1) 1 CCCTCATGTCCTCCAGGGTGT 0.617 16 49 --- --- --- --- PASS PIK3AP1 118788 broad.mit.edu 37 10 98469674 98469674 + Missense_Mutation SNP A T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr10:98469674A>T uc001kmq.2 - 2 208 c.80T>A c.(79-81)CTG>CAG p.L27Q NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 27 cytoplasm|plasma membrane upper_aerodigestive_tract(3)|ovary(1)|skin(1) 5 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) CAGGGTCTGCAGGTACTGGCA 0.597 5 21 --- --- --- --- PASS RRP12 23223 broad.mit.edu 37 10 99126316 99126316 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr10:99126316C>A uc001knf.2 - 28 3417 c.3278G>T c.(3277-3279)CGA>CTA p.R1093L RRP12_uc001kne.2_Missense_Mutation_p.R108L|RRP12_uc009xvl.2_Missense_Mutation_p.R210L|RRP12_uc009xvm.2_Missense_Mutation_p.R811L|RRP12_uc010qou.1_Missense_Mutation_p.R1032L|RRP12_uc009xvn.2_Missense_Mutation_p.R993L NM_015179 NP_055994 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog isoform 1 1093 integral to membrane|nuclear membrane|nucleolus protein binding ovary(2)|central_nervous_system(1) 3 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) CTCCTTGCCTCGGCTTCTTTC 0.592 4 68 --- --- --- --- PASS GBF1 8729 broad.mit.edu 37 10 104129063 104129063 + Silent SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr10:104129063C>A uc001kux.1 + 24 3306 c.3066C>A c.(3064-3066)ATC>ATA p.I1022I GBF1_uc001kuy.1_Silent_p.I1022I|GBF1_uc001kuz.1_Silent_p.I1023I NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 1022 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) ATGGTGACATCCTGCGGGAGG 0.502 9 75 --- --- --- --- PASS C10orf88 80007 broad.mit.edu 37 10 124712423 124712423 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr10:124712423C>G uc001lgw.2 - 2 515 c.290G>C c.(289-291)AGA>ACA p.R97T C10orf88_uc001lgx.2_5'UTR NM_024942 NP_079218 Q9H8K7 CJ088_HUMAN hypothetical protein LOC80007 97 0 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735) TTCCATATTTCTTGCTGAACT 0.453 6 79 --- --- --- --- PASS BUB3 9184 broad.mit.edu 37 10 124915190 124915190 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr10:124915190G>T uc001lhe.2 + 3 454 c.212G>T c.(211-213)TGG>TTG p.W71L BUB3_uc009yah.2_Missense_Mutation_p.W23L|BUB3_uc001lhf.3_Missense_Mutation_p.W71L|BUB3_uc001lhd.2_Missense_Mutation_p.W71L|BUB3_uc010qud.1_5'UTR NM_004725 NP_004716 O43684 BUB3_HUMAN budding uninhibited by benzimidazoles 3 isoform 71 WD 2. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle condensed chromosome kinetochore|cytosol|nucleus protein binding ovary(1) 1 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) ACGCATGCCTGGAGTGGAGGA 0.353 4 41 --- --- --- --- PASS MKI67 4288 broad.mit.edu 37 10 129903515 129903515 + Missense_Mutation SNP A C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr10:129903515A>C uc001lke.2 - 13 6784 c.6589T>G c.(6589-6591)TTG>GTG p.L2197V MKI67_uc001lkf.2_Missense_Mutation_p.L1837V|MKI67_uc009yav.1_Missense_Mutation_p.L1772V|MKI67_uc009yaw.1_Missense_Mutation_p.L1347V NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2197 16 X 122 AA approximate repeats.|10. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) AGCTCTTTCAAGCCAGCCAAG 0.502 24 108 --- --- --- --- PASS PHRF1 57661 broad.mit.edu 37 11 611692 611692 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:611692C>G uc001lqe.2 + 18 4996 c.4865C>G c.(4864-4866)GCG>GGG p.A1622G PHRF1_uc010qwc.1_Missense_Mutation_p.A1621G|PHRF1_uc010qwd.1_Missense_Mutation_p.A1620G|PHRF1_uc010qwe.1_Missense_Mutation_p.A1618G|PHRF1_uc009yca.1_RNA NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 1622 RNA polymerase binding|zinc ion binding 0 CTGGTGAAGGCGTACGTGGAC 0.602 15 26 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1266003 1266003 + Silent SNP A T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:1266003A>T uc009ycr.1 + 48 9933 c.9807A>T c.(9805-9807)CCA>CCT p.P3269P MUC5B_uc001ltb.2_Silent_p.P2634P NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 2631 7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCACGCTTCCAGTGTGGATCA 0.637 11 56 --- --- --- --- PASS TOLLIP 54472 broad.mit.edu 37 11 1311618 1311618 + Missense_Mutation SNP C T T rs143130045 TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:1311618C>T uc001lte.2 - 3 316 c.205G>A c.(205-207)GGC>AGC p.G69S TOLLIP_uc001ltd.2_5'UTR|TOLLIP_uc009ycu.2_Intron|TOLLIP_uc001ltf.2_Missense_Mutation_p.G19S NM_019009 NP_061882 Q9H0E2 TOLIP_HUMAN toll interacting protein 69 C2. cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex kinase binding|signal transducer activity|Toll-like receptor binding 0 all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107) CGGGTCATGCCGTAATTCTTG 0.592 7 17 --- --- --- --- PASS LOC338651 338651 broad.mit.edu 37 11 1619128 1619128 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:1619128C>G uc009ycx.1 + 2 979 c.228C>G c.(226-228)AAC>AAG p.N76K LOC338651_uc001ltt.1_RNA|KRTAP5-2_uc001ltv.2_Missense_Mutation_p.C118S NR_021489 SubName: Full=cDNA FLJ30579 fis, clone BRAWH2006989, weakly similar to DNA-DIRECTED RNA POLYMERASE II LARGEST SUBUNIT; EC=2.7.7.6; 0 GGGCTTACAACAGCTGGACTG 0.652 17 82 --- --- --- --- PASS NUP98 4928 broad.mit.edu 37 11 3727819 3727819 + Silent SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:3727819C>A uc001lyh.2 - 21 3072 c.2781G>T c.(2779-2781)GTG>GTT p.V927V NUP98_uc001lyi.2_Silent_p.V927V|NUP98_uc001lyg.2_5'UTR NM_016320 NP_057404 P52948 NUP98_HUMAN nucleoporin 98kD isoform 1 944 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1) 12 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) TGTCCAGTTCCACAACCCTCC 0.468 T HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11 AML 6 125 --- --- --- --- PASS OR51G2 81282 broad.mit.edu 37 11 4936660 4936660 + Silent SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:4936660G>A uc001lzr.1 - 1 234 c.234C>T c.(232-234)CTC>CTT p.L78L NM_001005238 NP_001005238 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, 78 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCAAAGGGAGAGACCCAGGT 0.473 5 48 --- --- --- --- PASS HBE1 3046 broad.mit.edu 37 11 5289729 5289729 + Silent SNP G C C rs145809569 by1000genomes TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:5289729G>C uc001mal.1 - 3 667 c.414C>G c.(412-414)GTC>GTG p.V138V HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Silent_p.V138V NM_005330 NP_005321 P02100 HBE_HUMAN epsilon globin 138 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity 0 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGCAATGGCGACAGCAGACA 0.557 4 143 --- --- --- --- PASS OR51B2 79345 broad.mit.edu 37 11 5344621 5344621 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:5344621G>T uc001mao.1 - 1 962 c.907C>A c.(907-909)CGC>AGC p.R303S HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, 303 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GATAAAAGGCGGATAATGCCA 0.368 12 29 --- --- --- --- PASS OR51B2 79345 broad.mit.edu 37 11 5344990 5344990 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:5344990G>T uc001mao.1 - 1 593 c.538C>A c.(538-540)CAA>AAA p.Q180K HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, 180 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGATTTCTTGGTGGAGGCAG 0.378 4 53 --- --- --- --- PASS OR51Q1 390061 broad.mit.edu 37 11 5444070 5444070 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:5444070C>G uc010qzd.1 + 1 640 c.640C>G c.(640-642)CTG>GTG p.L214V HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004757 NP_001004757 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, 214 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGTGGATCCTCTGCTCATTGT 0.498 17 61 --- --- --- --- PASS OR52E4 390081 broad.mit.edu 37 11 5905886 5905886 + Missense_Mutation SNP T A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:5905886T>A uc010qzs.1 + 1 364 c.364T>A c.(364-366)TAT>AAT p.Y122N TRIM5_uc001mbq.1_Intron NM_001005165 NP_001005165 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, 122 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTCATGGCTTATGACCGCTT 0.448 7 67 --- --- --- --- PASS OR52E4 390081 broad.mit.edu 37 11 5906038 5906038 + Silent SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:5906038G>T uc010qzs.1 + 1 516 c.516G>T c.(514-516)GGG>GGT p.G172G TRIM5_uc001mbq.1_Intron NM_001005165 NP_001005165 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, 172 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATTCTGTGGGCATAACATCG 0.453 13 61 --- --- --- --- PASS CNGA4 1262 broad.mit.edu 37 11 6262865 6262865 + Nonsense_Mutation SNP T A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:6262865T>A uc001mco.2 + 5 1229 c.1122T>A c.(1120-1122)TAT>TAA p.Y374* CNGA4_uc010raa.1_Nonsense_Mutation_p.Y143*|CNGA4_uc001mcn.2_Nonsense_Mutation_p.Y334* NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 374 cNMP.|Cytoplasmic (Potential). response to stimulus|sensory perception of smell cAMP binding skin(1) 1 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGGTGAATATGTATGCCGCA 0.557 60 128 --- --- --- --- PASS DCHS1 8642 broad.mit.edu 37 11 6643179 6643179 + Missense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:6643179C>T uc001mem.1 - 21 10138 c.9728G>A c.(9727-9729)GGC>GAC p.G3243D TPP1_uc001mek.1_5'Flank|TPP1_uc001mel.1_5'Flank|TPP1_uc010rar.1_5'Flank NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 3243 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGACAGGGAGCCTTCATGGCT 0.637 7 13 --- --- --- --- PASS EIF4G2 1982 broad.mit.edu 37 11 10822354 10822354 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:10822354G>T uc001mjc.2 - 16 1985 c.1568C>A c.(1567-1569)CCA>CAA p.P523Q EIF4G2_uc001mjb.2_Missense_Mutation_p.P317Q|EIF4G2_uc009ygf.2_Missense_Mutation_p.P317Q|EIF4G2_uc001mjd.2_Missense_Mutation_p.P485Q NM_001418 NP_001409 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 523 cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) GATAAGCGGTGGATTAGTTTT 0.383 5 53 --- --- --- --- PASS USP47 55031 broad.mit.edu 37 11 11970068 11970068 + Missense_Mutation SNP G C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:11970068G>C uc001mjs.2 + 22 4074 c.3311G>C c.(3310-3312)AGA>ACA p.R1104T USP47_uc001mjr.2_Missense_Mutation_p.R1036T|USP47_uc009ygi.2_5'Flank NM_017944 NP_060414 Q96K76 UBP47_HUMAN ubiquitin specific protease 47 1124 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding ovary(1)|skin(1) 2 Epithelial(150;0.000339) GGAGAATACAGAGTTAAAGTA 0.299 3 58 --- --- --- --- PASS NELL1 4745 broad.mit.edu 37 11 20907010 20907010 + Missense_Mutation SNP A G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:20907010A>G uc001mqe.2 + 5 680 c.527A>G c.(526-528)GAC>GGC p.D176G NELL1_uc001mqf.2_Missense_Mutation_p.D176G|NELL1_uc009yid.2_Missense_Mutation_p.D204G|NELL1_uc010rdo.1_Missense_Mutation_p.D119G|NELL1_uc010rdp.1_Intron NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 176 TSP N-terminal. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 CGTGTGATAGACCCTCCAGAT 0.418 8 25 --- --- --- --- PASS OR5F1 338674 broad.mit.edu 37 11 55761502 55761502 + Silent SNP A T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:55761502A>T uc010riv.1 - 1 600 c.600T>A c.(598-600)TCT>TCA p.S200S NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 200 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) CAGCCAAAATAGAACTTATGC 0.453 7 54 --- --- --- --- PASS OR5T1 390155 broad.mit.edu 37 11 56043843 56043843 + Silent SNP T A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:56043843T>A uc001nio.1 + 1 729 c.729T>A c.(727-729)GCT>GCA p.A243A NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 243 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) TGCAGTCTGCTGAAGGGAGGA 0.423 20 117 --- --- --- --- PASS ZDHHC5 25921 broad.mit.edu 37 11 57466569 57466569 + Missense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:57466569C>T uc001nkx.1 + 11 2917 c.1661C>T c.(1660-1662)TCA>TTA p.S554L ZDHHC5_uc001nky.1_Missense_Mutation_p.S501L|ZDHHC5_uc001nkz.1_Missense_Mutation_p.S368L NM_015457 NP_056272 Q9C0B5 ZDHC5_HUMAN zinc finger, DHHC domain containing 5 554 integral to membrane acyltransferase activity|zinc ion binding skin(1) 1 CTGCGCCAGTCACCCCCACTC 0.612 14 43 --- --- --- --- PASS FAM111B 374393 broad.mit.edu 37 11 58893612 58893612 + Missense_Mutation SNP T C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:58893612T>C uc001nnl.2 + 4 2285 c.2042T>C c.(2041-2043)ATT>ACT p.I681T FAM111B_uc001nnm.2_Missense_Mutation_p.I651T|FAM111B_uc010rko.1_Missense_Mutation_p.I651T NM_198947 NP_945185 Q6SJ93 F111B_HUMAN hypothetical protein LOC374393 isoform a 681 catalytic activity ovary(2) 2 CATGCCCTTATTGAATTTGGT 0.363 20 59 --- --- --- --- PASS PATL1 219988 broad.mit.edu 37 11 59420425 59420425 + Silent SNP G C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:59420425G>C uc001noe.3 - 10 1331 c.1188C>G c.(1186-1188)CTC>CTG p.L396L PATL1_uc009yms.1_Silent_p.L366L|PATL1_uc010rkw.1_Silent_p.L101L NM_152716 NP_689929 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 396 Region H. cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding ovary(1) 1 GATCCTTTCGGAGATGATCTT 0.473 4 135 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62294858 62294858 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:62294858G>T uc001ntl.2 - 5 7331 c.7031C>A c.(7030-7032)CCA>CAA p.P2344Q AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2344 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) ATCCAATTCTGGACCTTTTAA 0.438 6 110 --- --- --- --- PASS NRXN2 9379 broad.mit.edu 37 11 64417926 64417926 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:64417926G>T uc001oar.2 - 16 3542 c.3103C>A c.(3103-3105)CTC>ATC p.L1035I NRXN2_uc001oas.2_Missense_Mutation_p.L995I|NRXN2_uc001oaq.2_Missense_Mutation_p.L702I NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor Error:Variant_position_missing_in_P58401_after_alignment cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 CCACCTTTGAGATCGAGGTTT 0.637 5 72 --- --- --- --- PASS LRP5 4041 broad.mit.edu 37 11 68201264 68201264 + Missense_Mutation SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:68201264G>A uc001ont.2 + 18 4033 c.3958G>A c.(3958-3960)GAG>AAG p.E1320K LRP5_uc009ysg.2_Missense_Mutation_p.E730K NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 1320 LDL-receptor class A 2.|Extracellular (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 CTGCGACGGCGAGGCAGACTG 0.706 6 13 --- --- --- --- PASS NUMA1 4926 broad.mit.edu 37 11 71724063 71724063 + Nonsense_Mutation SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:71724063G>A uc001orl.1 - 15 4658 c.4486C>T c.(4486-4488)CGA>TGA p.R1496* NUMA1_uc009ysw.1_Nonsense_Mutation_p.R1059*|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Nonsense_Mutation_p.R1496*|NUMA1_uc001orn.2_Nonsense_Mutation_p.R1059*|NUMA1_uc009ysx.1_Nonsense_Mutation_p.R1496*|NUMA1_uc001oro.1_Nonsense_Mutation_p.R1496* NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1496 Potential. G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 TGTGCTTCTCGCTGCACCTCA 0.597 T RARA APL 13 67 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92088060 92088060 + Missense_Mutation SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:92088060G>A uc001pdj.3 + 1 2799 c.2782G>A c.(2782-2784)GAT>AAT p.D928N NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 928 Cadherin 8.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTTTTTAGATGATGTCAATGA 0.438 TCGA Ovarian(4;0.039) 25 91 --- --- --- --- PASS CWF19L2 143884 broad.mit.edu 37 11 107299540 107299540 + Missense_Mutation SNP T C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:107299540T>C uc010rvp.1 - 8 1448 c.1418A>G c.(1417-1419)AAG>AGG p.K473R CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA NM_152434 NP_689647 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control 473 catalytic activity 0 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) AAATGTAGACTTTGTATCCCG 0.348 14 118 --- --- --- --- PASS TMEM136 219902 broad.mit.edu 37 11 120198201 120198201 + Silent SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:120198201C>T uc001pxh.1 + 2 114 c.51C>T c.(49-51)CTC>CTT p.L17L TMEM136_uc001pxg.2_Silent_p.L39L|TMEM136_uc010rzm.1_Silent_p.L17L|TMEM136_uc001pxj.2_Silent_p.L39L|TMEM136_uc009zas.1_5'UTR|TMEM136_uc001pxi.1_Intron NM_174926 NP_777586 Q6ZRR5 TM136_HUMAN transmembrane protein 136 17 Helical; (Potential). integral to membrane p.W17*(1) ovary(1) 1 Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.07e-06) GTGGCTGGCTCTCGCTCTATA 0.507 11 25 --- --- --- --- PASS ARHGEF12 23365 broad.mit.edu 37 11 120352085 120352085 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:120352085C>G uc001pxl.1 + 39 4361 c.4354C>G c.(4354-4356)CAC>GAC p.H1452D ARHGEF12_uc009zau.1_Missense_Mutation_p.H1349D NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1452 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) GGAATCCACCCACCAGCAGCA 0.547 T MLL AML 5 29 --- --- --- --- PASS SORL1 6653 broad.mit.edu 37 11 121440877 121440877 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:121440877C>G uc001pxx.2 + 23 3315 c.3235C>G c.(3235-3237)CTT>GTT p.L1079V NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 1079 Extracellular (Potential).|LDL-receptor class A 1. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GAACACCTGTCTTCGCAACCA 0.483 12 89 --- --- --- --- PASS VWA5A 4013 broad.mit.edu 37 11 123995012 123995012 + Silent SNP A G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:123995012A>G uc001pzu.2 + 11 1442 c.1233A>G c.(1231-1233)AGA>AGG p.R411R VWA5A_uc001pzr.2_Silent_p.R411R|VWA5A_uc001pzs.2_Silent_p.R411R|VWA5A_uc010sae.1_Silent_p.R427R|VWA5A_uc001pzt.2_Silent_p.R411R NM_001130142 NP_001123614 O00534 VMA5A_HUMAN BCSC-1 isoform 1 411 VWFA. upper_aerodigestive_tract(1)|ovary(1) 2 GGATCAACAGACAGAAACACA 0.398 3 17 --- --- --- --- PASS OR8A1 390275 broad.mit.edu 37 11 124440254 124440254 + Missense_Mutation SNP A G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr11:124440254A>G uc010san.1 + 1 290 c.290A>G c.(289-291)AAG>AGG p.K97R NM_001005194 NP_001005194 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, 97 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) ATTACCCCTAAGATGCTGGTG 0.453 28 63 --- --- --- --- PASS C12orf5 57103 broad.mit.edu 37 12 4460527 4460527 + Missense_Mutation SNP G C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr12:4460527G>C uc001qmp.2 + 5 444 c.365G>C c.(364-366)GGA>GCA p.G122A NM_020375 NP_065108 Q9NQ88 TIGAR_HUMAN TP53-induced glycolysis and apoptosis regulator 122 intracellular fructose-2,6-bisphosphate 2-phosphatase activity skin(1) 1 all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206) CCGCCCGGAGGAGAGACGCTG 0.488 8 29 --- --- --- --- PASS ATN1 1822 broad.mit.edu 37 12 7045484 7045484 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr12:7045484C>G uc001qrw.1 + 5 1291 c.1054C>G c.(1054-1056)CTG>GTG p.L352V ATN1_uc001qrx.1_Missense_Mutation_p.L352V|ATN1_uc001qry.1_Missense_Mutation_p.L351V NM_001007026 NP_001007027 P54259 ATN1_HUMAN atrophin-1 352 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 GGGCCCAACTCTGGCTCCTTC 0.607 12 140 --- --- --- --- PASS PRH2 5555 broad.mit.edu 37 12 11081919 11081919 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr12:11081919C>A uc009zhr.2 + 1 85 c.47C>A c.(46-48)GCT>GAT p.A16D PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH2_uc001qzh.2_Missense_Mutation_p.A16D|PRH2_uc001qzi.3_Missense_Mutation_p.A16D NM_001110213 NP_001103683 P02810 PRPC_HUMAN proline-rich protein HaeIII subfamily 2 16 extracellular space protein binding 0 TTCAGCTCAGCTCAGGACTTA 0.517 11 73 --- --- --- --- PASS LRP6 4040 broad.mit.edu 37 12 12278319 12278319 + Missense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr12:12278319C>T uc001rah.3 - 21 4502 c.4360G>A c.(4360-4362)GGA>AGA p.G1454R BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.G1409R NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 1454 Cytoplasmic (Potential). cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) CCACTGCTTCCCCCCATGATA 0.423 15 16 --- --- --- --- PASS LRP6 4040 broad.mit.edu 37 12 12291458 12291458 + Silent SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr12:12291458C>T uc001rah.3 - 16 3550 c.3408G>A c.(3406-3408)CGG>CGA p.R1136R BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Silent_p.R1136R NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 1136 Extracellular (Potential).|LDL-receptor class B 19.|Beta-propeller 4. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) CTAATACTATCCGGTTAGCAC 0.363 20 58 --- --- --- --- PASS KCNH3 23416 broad.mit.edu 37 12 49933230 49933230 + Nonsense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr12:49933230C>T uc001ruh.1 + 1 291 c.31C>T c.(31-33)CAG>TAG p.Q11* KCNH3_uc010smj.1_5'UTR NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H 11 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity 0 CCTGGCGCCGCAGAACACCTT 0.662 5 23 --- --- --- --- PASS TENC1 23371 broad.mit.edu 37 12 53448097 53448097 + Missense_Mutation SNP G C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr12:53448097G>C uc001sbp.2 + 7 529 c.394G>C c.(394-396)GAC>CAC p.D132H uc001sbk.1_Intron|TENC1_uc001sbl.2_Missense_Mutation_p.D8H|TENC1_uc001sbm.2_Missense_Mutation_p.D142H|TENC1_uc001sbn.2_Missense_Mutation_p.D142H|TENC1_uc001sbo.1_Missense_Mutation_p.D132H NM_170754 NP_736610 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase 132 Phosphatase tensin-type. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding ovary(1)|pancreas(1) 2 CTGGGACTTAGACCTCACCTA 0.701 11 18 --- --- --- --- PASS TARBP2 6895 broad.mit.edu 37 12 53899577 53899577 + Missense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr12:53899577C>T uc001sdo.2 + 8 1374 c.886C>T c.(886-888)CGT>TGT p.R296C TARBP2_uc001sdp.2_Missense_Mutation_p.R275C|TARBP2_uc001sdq.2_Missense_Mutation_p.R152C|TARBP2_uc001sdr.2_Missense_Mutation_p.R152C|TARBP2_uc001sds.2_Missense_Mutation_p.P253L|TARBP2_uc001sdt.2_Missense_Mutation_p.R275C|TARBP2_uc001sdu.2_Missense_Mutation_p.R152C|TARBP2_uc001sdv.2_RNA NM_134323 NP_599150 Q15633 TRBP2_HUMAN TAR RNA binding protein 2 isoform a 296 Sufficient for interaction with DICER1.|DRBM 3.|Sufficient for interaction with PRKRA. miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex double-stranded RNA binding|protein homodimerization activity|siRNA binding central_nervous_system(1) 1 TGCCTGCTGCCGTGTCCTCAG 0.612 6 41 --- --- --- --- PASS KIAA0748 9840 broad.mit.edu 37 12 55356381 55356381 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr12:55356381C>G uc001sgn.3 - 9 1411 c.1301G>C c.(1300-1302)AGA>ACA p.R434T KIAA0748_uc001sgl.3_Missense_Mutation_p.R296T|KIAA0748_uc001sgm.3_Missense_Mutation_p.R181T|KIAA0748_uc010spb.1_Missense_Mutation_p.R181T|KIAA0748_uc010spc.1_Missense_Mutation_p.R296T|KIAA0748_uc010spd.1_Missense_Mutation_p.R434T|KIAA0748_uc001sgo.3_RNA NM_001098815 NP_001092285 A2RU30 K0748_HUMAN hypothetical protein LOC9840 434 ovary(1)|central_nervous_system(1) 2 TCTGCTCTTTCTTTTCCAGAA 0.502 35 106 --- --- --- --- PASS GLI1 2735 broad.mit.edu 37 12 57857822 57857822 + Missense_Mutation SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr12:57857822G>A uc001snx.2 + 3 219 c.141G>A c.(139-141)ATG>ATA p.M47I GLI1_uc009zpp.2_RNA|GLI1_uc009zpq.2_Intron|GLI1_uc009zpr.1_Intron NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 47 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1) 15 GBM - Glioblastoma multiforme(3;3.99e-32) CTAACCTCATGTCCGGCCCCC 0.557 37 107 --- --- --- --- PASS TSPAN31 6302 broad.mit.edu 37 12 58139669 58139669 + Missense_Mutation SNP A T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr12:58139669A>T uc001spt.2 + 2 359 c.205A>T c.(205-207)AAC>TAC p.N69Y TSPAN31_uc009zqb.2_Intron|TSPAN31_uc010ssa.1_5'UTR NM_005981 NP_005972 Q12999 TSN31_HUMAN sarcoma amplified sequence 69 Cytoplasmic (Potential). positive regulation of cell proliferation integral to plasma membrane|membrane fraction 0 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) GGGTGCTGTCAACCACCACCA 0.562 10 41 --- --- --- --- PASS PTPRR 5801 broad.mit.edu 37 12 71286540 71286540 + Silent SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr12:71286540C>A uc001swi.1 - 2 692 c.276G>T c.(274-276)CCG>CCT p.P92P NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 92 Extracellular (Potential). in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) GATTGAGAGACGGGTCATATG 0.433 30 83 --- --- --- --- PASS TPH2 121278 broad.mit.edu 37 12 72338230 72338230 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr12:72338230C>G uc009zrw.1 + 3 553 c.412C>G c.(412-414)CCA>GCA p.P138A TPH2_uc001swy.2_Missense_Mutation_p.P48A NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 138 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity ovary(2)|central_nervous_system(1)|skin(1) 4 L-Tryptophan(DB00150) GCTGAATCCTCCAGAGAACAT 0.423 25 83 --- --- --- --- PASS TRHDE 29953 broad.mit.edu 37 12 73015517 73015517 + Silent SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr12:73015517C>A uc001sxa.2 + 15 2556 c.2526C>A c.(2524-2526)TCC>TCA p.S842S NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 842 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 ATTGGATTTCCAGCAACAGGA 0.398 9 40 --- --- --- --- PASS OSBPL8 114882 broad.mit.edu 37 12 76767175 76767175 + Silent SNP T A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr12:76767175T>A uc001sye.1 - 18 2346 c.1866A>T c.(1864-1866)TCA>TCT p.S622S OSBPL8_uc001syf.1_Silent_p.S580S|OSBPL8_uc001syg.1_Silent_p.S580S|OSBPL8_uc001syh.1_Silent_p.S597S NM_020841 NP_065892 Q9BZF1 OSBL8_HUMAN oxysterol-binding protein-like protein 8 isoform 622 lipid transport lipid binding ovary(1) 1 TAAGTTTCCCTGATATTTGAT 0.308 20 54 --- --- --- --- PASS E2F7 144455 broad.mit.edu 37 12 77417881 77417881 + Missense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr12:77417881C>T uc001sym.3 - 13 2886 c.2650G>A c.(2650-2652)GTC>ATC p.V884I E2F7_uc009zse.2_3'UTR NM_203394 NP_976328 Q96AV8 E2F7_HUMAN E2F transcription factor 7 884 cell cycle transcription factor complex DNA binding|identical protein binding upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 CTCTTCAGGACAGGGTCTCCA 0.542 14 49 --- --- --- --- PASS TBX3 6926 broad.mit.edu 37 12 115114128 115114128 + Silent SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr12:115114128C>T uc001tvt.1 - 6 2053 c.1089G>A c.(1087-1089)TCG>TCA p.S363S TBX3_uc001tvu.1_Silent_p.S343S NM_016569 NP_057653 O15119 TBX3_HUMAN T-box 3 protein isoform 2 363 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding ovary(2)|skin(1) 3 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) CTTTGAGGTTCGATGTCCCTA 0.547 16 49 --- --- --- --- PASS TMED2 10959 broad.mit.edu 37 12 124074954 124074954 + Nonsense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr12:124074954G>T uc001ufg.2 + 3 547 c.439G>T c.(439-441)GAA>TAA p.E147* NM_006815 NP_006806 Q15363 TMED2_HUMAN coated vesicle membrane protein precursor 147 Lumenal (Potential). protein transport|vesicle-mediated transport COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane protein binding 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745) TGTAAAGCACGAACAGGAATA 0.433 4 53 --- --- --- --- PASS NCOR2 9612 broad.mit.edu 37 12 124915226 124915226 + Silent SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr12:124915226G>T uc010tba.1 - 9 1107 c.990C>A c.(988-990)CGC>CGA p.R330R NCOR2_uc010tay.1_Silent_p.R330R|NCOR2_uc010taz.1_Silent_p.R330R|NCOR2_uc010tbb.1_Silent_p.R330R|NCOR2_uc010tbc.1_Silent_p.R330R|NCOR2_uc001ugj.1_Silent_p.R330R|NCOR2_uc001ugk.1_Silent_p.R330R NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 330 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CGTAGTACTCGCGCACCTTGC 0.652 14 64 --- --- --- --- PASS ATP7B 540 broad.mit.edu 37 13 52511767 52511767 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr13:52511767C>A uc001vfw.2 - 18 3905 c.3748G>T c.(3748-3750)GCC>TCC p.A1250S ATP7B_uc010adv.2_Missense_Mutation_p.A820S|ATP7B_uc001vfx.2_Missense_Mutation_p.A1043S|ATP7B_uc001vfy.2_Missense_Mutation_p.A1139S|ATP7B_uc010tgt.1_Missense_Mutation_p.A1185S|ATP7B_uc010tgu.1_Missense_Mutation_p.A1202S|ATP7B_uc010tgv.1_Missense_Mutation_p.A1172S|ATP7B_uc001vfv.2_Missense_Mutation_p.A522S|ATP7B_uc010tgs.1_Missense_Mutation_p.A461S NM_000053 NP_000044 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 1250 Cytoplasmic (Potential). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) TGGACCTTGGCCACCTTGTGC 0.542 Wilson_disease 5 116 --- --- --- --- PASS MYCBP2 23077 broad.mit.edu 37 13 77844568 77844568 + Missense_Mutation SNP T A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr13:77844568T>A uc001vkf.2 - 7 1028 c.937A>T c.(937-939)ATG>TTG p.M313L MYCBP2_uc010aev.2_5'UTR NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 313 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CACTTGTGCATTAAAGCTGCT 0.338 15 30 --- --- --- --- PASS TPP2 7174 broad.mit.edu 37 13 103279418 103279418 + Missense_Mutation SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr13:103279418G>A uc001vpi.3 + 7 944 c.841G>A c.(841-843)GAA>AAA p.E281K NM_003291 NP_003282 P29144 TPP2_HUMAN tripeptidyl peptidase II 281 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGAAGAACCTGAACGGAATGG 0.463 29 79 --- --- --- --- PASS TEP1 7011 broad.mit.edu 37 14 20857439 20857439 + Missense_Mutation SNP G T T rs145088591 TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr14:20857439G>T uc001vxe.2 - 17 2523 c.2483C>A c.(2482-2484)CCC>CAC p.P828H TEP1_uc010ahk.2_Missense_Mutation_p.P178H|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.P720H NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 828 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CACATCATTGGGATTCAAATC 0.418 5 70 --- --- --- --- PASS LRP10 26020 broad.mit.edu 37 14 23346451 23346451 + Silent SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr14:23346451G>A uc001whd.2 + 7 2410 c.1857G>A c.(1855-1857)AAG>AAA p.K619K LRP10_uc001whe.2_Intron NM_014045 NP_054764 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 619 Pro-rich.|Cytoplasmic (Potential). endocytosis coated pit|integral to membrane central_nervous_system(1) 1 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) TGCCCATCAAGGCTCCCCTCC 0.657 9 29 --- --- --- --- PASS MYH7 4625 broad.mit.edu 37 14 23901920 23901920 + Missense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr14:23901920C>T uc001wjx.2 - 5 536 c.430G>A c.(430-432)GGC>AGC p.G144S NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 144 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTCTTCTTGCCCCGGTAGGCA 0.592 14 57 --- --- --- --- PASS ADCY4 196883 broad.mit.edu 37 14 24788418 24788418 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr14:24788418C>G uc001wov.2 - 23 2848 c.2842G>C c.(2842-2844)GAT>CAT p.D948H ADCY4_uc001wow.2_Missense_Mutation_p.D948H|ADCY4_uc010toh.1_Missense_Mutation_p.D634H|ADCY4_uc001wox.2_Missense_Mutation_p.D948H|ADCY4_uc001woy.2_Missense_Mutation_p.D948H NM_139247 NP_640340 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 948 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding ovary(1)|lung(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(265;0.0192) CGTTCAGCATCCTGGCAATGG 0.552 22 55 --- --- --- --- PASS PRKD1 5587 broad.mit.edu 37 14 30105516 30105516 + Silent SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr14:30105516C>T uc001wqh.2 - 7 1351 c.1170G>A c.(1168-1170)GAG>GAA p.E390E NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 390 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) TGTTGGCGTCCTCGTGGTCTG 0.502 36 149 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42356690 42356690 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr14:42356690C>G uc001wvm.2 + 3 2060 c.862C>G c.(862-864)CTC>GTC p.L288V LRFN5_uc010ana.2_Missense_Mutation_p.L288V NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 288 Extracellular (Potential).|Ig-like. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TGAGCCTCCTCTCATTACTCG 0.493 HNSCC(30;0.082) 15 64 --- --- --- --- PASS TXNDC16 57544 broad.mit.edu 37 14 52907400 52907400 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr14:52907400G>T uc001wzs.2 - 19 2334 c.1885C>A c.(1885-1887)CAG>AAG p.Q629K TXNDC16_uc010tqu.1_Missense_Mutation_p.Q624K|TXNDC16_uc010aoe.2_RNA NM_020784 NP_065835 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 isoform 1 629 cell redox homeostasis extracellular region 0 Breast(41;0.0716) AATGGTTTCTGAAGTCTGAAA 0.343 9 23 --- --- --- --- PASS C14orf135 64430 broad.mit.edu 37 14 60581998 60581998 + Silent SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr14:60581998C>T uc001xer.3 + 3 996 c.474C>T c.(472-474)GGC>GGT p.G158G C14orf135_uc001xeq.2_Silent_p.G158G NM_022495 NP_071940 Q63HM2 CN135_HUMAN hepatitis C virus F protein-binding protein 2 392 Helical; (Potential). integral to membrane ovary(2) 2 Myeloproliferative disorder(585;0.163) OV - Ovarian serous cystadenocarcinoma(108;0.127) CTATTGTGGGCTATGGTTTGA 0.353 23 121 --- --- --- --- PASS ADAM20 8748 broad.mit.edu 37 14 70991102 70991102 + Missense_Mutation SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr14:70991102G>A uc001xme.2 - 2 768 c.523C>T c.(523-525)CTT>TTT p.L175F NM_003814 NP_003805 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 preproprotein 125 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) CAGGTACTAAGGGCAACCAAG 0.483 10 46 --- --- --- --- PASS PROX2 283571 broad.mit.edu 37 14 75329373 75329373 + Missense_Mutation SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr14:75329373G>A uc001xqr.1 - 1 1165 c.1165C>T c.(1165-1167)CCA>TCA p.P389S PROX2_uc001xqq.1_Intron NM_001080408 NP_001073877 Q3B8N5 PROX2_HUMAN prospero homeobox 2 389 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) AGGACCAATGGTTGCGGCTTA 0.572 12 48 --- --- --- --- PASS KCNK10 54207 broad.mit.edu 37 14 88707111 88707111 + Silent SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr14:88707111G>A uc001xwo.2 - 3 898 c.441C>T c.(439-441)AAC>AAT p.N147N KCNK10_uc001xwm.2_Silent_p.N152N|KCNK10_uc001xwn.2_Silent_p.N152N NM_021161 NP_066984 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 147 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(2)|pancreas(1) 5 GGCTGCTGTTGTTGGAAGAGT 0.448 23 125 --- --- --- --- PASS CPSF2 53981 broad.mit.edu 37 14 92600506 92600506 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr14:92600506C>G uc001yah.1 + 4 538 c.301C>G c.(301-303)CTT>GTT p.L101V NM_017437 NP_059133 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2 101 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding ovary(2) 2 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) CATGTATGATCTTTATCAGGT 0.363 16 50 --- --- --- --- PASS RTL1 388015 broad.mit.edu 37 14 101348272 101348272 + Missense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr14:101348272C>T uc010txj.1 - 1 2913 c.2854G>A c.(2854-2856)GAG>AAG p.E952K MIR433_hsa-mir-433|MI0001723_RNA|uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank NM_001134888 NP_001128360 A6NKG5 RTL1_HUMAN retrotransposon-like 1 952 pancreas(1) 1 GCTAGATCCTCTGTGTTGAGA 0.527 26 91 --- --- --- --- PASS MIR656 724026 broad.mit.edu 37 14 101533061 101533061 + RNA SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr14:101533061C>A hsa-mir-656|MI0003678 + c.1C>A 0 TCAGTGGTACCTGAAATAGGT 0.532 5 43 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 107198985 107198985 + RNA SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr14:107198985G>A uc010tyt.1 - 21 c.1713C>T Parts of antibodies, mostly variable regions. 0 TTCATTTGCAGATACAGTGAG 0.498 38 117 --- --- --- --- PASS LCMT2 9836 broad.mit.edu 37 15 43621302 43621302 + Silent SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr15:43621302C>G uc001zrg.2 - 1 1590 c.1386G>C c.(1384-1386)CTG>CTC p.L462L LCMT2_uc010udn.1_Silent_p.L41L|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank NM_014793 NP_055608 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 462 tRNA processing methyltransferase activity|protein binding 0 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) TTGTCACTTTCAGGTCCTCAG 0.463 19 52 --- --- --- --- PASS FBN1 2200 broad.mit.edu 37 15 48787692 48787692 + Missense_Mutation SNP A G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr15:48787692A>G uc001zwx.1 - 21 2841 c.2513T>C c.(2512-2514)TTG>TCG p.L838S NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 838 EGF-like 13; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TGTTGGATCCAAAGTACTTTC 0.348 10 153 --- --- --- --- PASS FEM1B 10116 broad.mit.edu 37 15 68582855 68582855 + Nonsense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr15:68582855C>T uc002arg.2 + 2 1774 c.1159C>T c.(1159-1161)CGA>TGA p.R387* FEM1B_uc002arh.2_Nonsense_Mutation_p.R307* NM_015322 NP_056137 Q9UK73 FEM1B_HUMAN fem-1 homolog b 387 apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity cytoplasm|nucleus death receptor binding|ubiquitin-protein ligase activity 0 GGATCTTCTTCGATTTGCTCA 0.398 7 38 --- --- --- --- PASS KIAA1024 23251 broad.mit.edu 37 15 79750082 79750082 + Silent SNP T C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr15:79750082T>C uc002bew.1 + 2 1668 c.1593T>C c.(1591-1593)AGT>AGC p.S531S KIAA1024_uc010unk.1_Silent_p.S531S NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 531 integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 TGAGCATCAGTGGCTCCACGG 0.493 14 20 --- --- --- --- PASS CACNA1H 8912 broad.mit.edu 37 16 1260849 1260849 + Silent SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr16:1260849G>T uc002cks.2 + 21 4349 c.4101G>T c.(4099-4101)CTG>CTT p.L1367L CACNA1H_uc002ckt.2_Silent_p.L1367L|CACNA1H_uc002cku.2_Silent_p.L73L|CACNA1H_uc010brj.2_Silent_p.L73L|CACNA1H_uc002ckv.2_Silent_p.L73L NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 1367 Helical; Name=S3 of repeat III; (Potential).|III. 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) GGAACCTGCTGGATGGGCTGC 0.677 4 42 --- --- --- --- PASS BAIAP3 8938 broad.mit.edu 37 16 1397706 1397706 + Missense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr16:1397706C>T uc002clk.1 + 31 3014 c.3014C>T c.(3013-3015)ACC>ATC p.T1005I BAIAP3_uc002clj.2_Missense_Mutation_p.T987I|BAIAP3_uc010uuz.1_Missense_Mutation_p.T970I|BAIAP3_uc010uva.1_Missense_Mutation_p.T942I|BAIAP3_uc010uvc.1_Missense_Mutation_p.T934I NM_003933 NP_003924 O94812 BAIP3_HUMAN BAI1-associated protein 3 1005 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding pancreas(1) 1 Hepatocellular(780;0.0893) CCGCAGAGGACCCTGGAGCAG 0.677 4 20 --- --- --- --- PASS TBL3 10607 broad.mit.edu 37 16 2024958 2024958 + Missense_Mutation SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr16:2024958G>A uc002cnu.1 + 7 596 c.494G>A c.(493-495)CGC>CAC p.R165H TBL3_uc002cnv.1_Missense_Mutation_p.R51H|TBL3_uc010bsb.1_5'UTR|TBL3_uc010bsc.1_Missense_Mutation_p.R51H|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank NM_006453 NP_006444 Q12788 TBL3_HUMAN transducin beta-like 3 165 WD 3. G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing nucleolus|small-subunit processome receptor signaling protein activity 0 GACCCTACACGCCTGCTGCTC 0.677 15 39 --- --- --- --- PASS PKD1 5310 broad.mit.edu 37 16 2152826 2152826 + Silent SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr16:2152826G>A uc002cos.1 - 24 9146 c.8937C>T c.(8935-8937)TTC>TTT p.F2979F PKD1_uc002cot.1_Silent_p.F2979F|PKD1_uc010bse.1_RNA NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 2979 Extracellular (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 CCGGGGAAATGAAGAAGGTGT 0.657 17 33 --- --- --- --- PASS ABCC1 4363 broad.mit.edu 37 16 16219669 16219669 + Silent SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr16:16219669C>T uc010bvi.2 + 26 3895 c.3720C>T c.(3718-3720)GTC>GTT p.V1240V ABCC1_uc010bvj.2_Silent_p.V1181V|ABCC1_uc010bvk.2_Silent_p.V1184V|ABCC1_uc010bvl.2_Silent_p.V1240V|ABCC1_uc010bvm.2_Silent_p.V1125V|ABCC1_uc002del.3_Silent_p.V1134V NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 1240 Helical; Name=17.|ABC transmembrane type-1 2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) ACTCACAGGTCACCACGTACT 0.453 5 27 --- --- --- --- PASS POLR3E 55718 broad.mit.edu 37 16 22325429 22325429 + Missense_Mutation SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr16:22325429G>A uc002dkk.2 + 8 658 c.502G>A c.(502-504)GAC>AAC p.D168N POLR3E_uc002dkj.1_Missense_Mutation_p.D168N|POLR3E_uc002dkm.2_Missense_Mutation_p.D132N|POLR3E_uc010vbr.1_Missense_Mutation_p.D168N|POLR3E_uc002dkl.2_Missense_Mutation_p.D168N|POLR3E_uc010vbs.1_Missense_Mutation_p.D132N|POLR3E_uc010vbt.1_Missense_Mutation_p.D112N NM_018119 NP_060589 Q9NVU0 RPC5_HUMAN RNA polymerase III polypeptide E 168 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(48;0.012) TGAGGCGGAAGACGATGTTAA 0.632 6 21 --- --- --- --- PASS LCMT1 51451 broad.mit.edu 37 16 25186343 25186343 + Nonsense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr16:25186343G>T uc002dnx.1 + 10 1128 c.970G>T c.(970-972)GGA>TGA p.G324* LCMT1_uc002dny.1_Nonsense_Mutation_p.G269*|LCMT1_uc002dnz.1_Nonsense_Mutation_p.G224*|LCMT1_uc002doa.1_Nonsense_Mutation_p.G169* NM_016309 NP_057393 Q9UIC8 LCMT1_HUMAN leucine carboxyl methyltransferase 1 isoform a 324 protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity 0 GBM - Glioblastoma multiforme(48;0.0336) L-Leucine(DB00149) AACCAAAGGAGGAAATGAGCT 0.358 4 22 --- --- --- --- PASS VPS35 55737 broad.mit.edu 37 16 46710571 46710571 + Missense_Mutation SNP T A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr16:46710571T>A uc002eef.3 - 8 937 c.838A>T c.(838-840)AAT>TAT p.N280Y VPS35_uc002eed.2_Missense_Mutation_p.N101Y|VPS35_uc002eee.2_Missense_Mutation_p.N241Y NM_018206 NP_060676 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 280 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding 0 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) AGAAAAGGATTCAAAGTCTGG 0.363 15 50 --- --- --- --- PASS PHKB 5257 broad.mit.edu 37 16 47732384 47732384 + Missense_Mutation SNP T A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr16:47732384T>A uc002eev.3 + 30 3081 c.3029T>A c.(3028-3030)CTG>CAG p.L1010Q PHKB_uc002eeu.3_Missense_Mutation_p.L1003Q|PHKB_uc002eew.3_Missense_Mutation_p.L251Q NM_000293 NP_000284 Q93100 KPBB_HUMAN phosphorylase kinase, beta isoform a 1010 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity ovary(1)|large_intestine(1)|breast(1) 3 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) TCCATTGTACTGGAAAGAAAC 0.368 15 41 --- --- --- --- PASS NOD2 64127 broad.mit.edu 37 16 50745378 50745378 + Missense_Mutation SNP A C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr16:50745378A>C uc002egm.1 + 4 1661 c.1556A>C c.(1555-1557)CAG>CCG p.Q519P NOD2_uc010cbk.1_Missense_Mutation_p.Q492P|NOD2_uc002egl.1_Missense_Mutation_p.Q297P|NOD2_uc010cbl.1_Missense_Mutation_p.Q297P|NOD2_uc010cbm.1_Missense_Mutation_p.Q297P|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 519 NACHT. 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) CTGATTCTGCAGCATTTTCTG 0.592 21 46 --- --- --- --- PASS CA7 766 broad.mit.edu 37 16 66881002 66881002 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr16:66881002C>A uc002eqi.2 + 2 219 c.110C>A c.(109-111)TCC>TAC p.S37Y uc002eqh.2_Intron|CA7_uc002eqj.2_5'UTR NM_005182 NP_005173 P43166 CAH7_HUMAN carbonic anhydrase VII isoform 1 37 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) AATATCATCTCCAGCCAGGCT 0.577 14 32 --- --- --- --- PASS MARVELD3 91862 broad.mit.edu 37 16 71674862 71674862 + Missense_Mutation SNP A G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr16:71674862A>G uc002fau.2 + 3 1228 c.1165A>G c.(1165-1167)AAA>GAA p.K389E PHLPP2_uc002fav.2_RNA|MARVELD3_uc010cge.2_3'UTR NM_001017967 NP_001017967 Q96A59 MALD3_HUMAN MARVEL domain containing 3 isoform 1 392 Cytoplasmic (Potential). integral to membrane skin(1) 1 Ovarian(137;0.125) GAAGCGCTACAAAGGCAGCCG 0.547 5 27 --- --- --- --- PASS CNTNAP4 85445 broad.mit.edu 37 16 76513408 76513408 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr16:76513408C>A uc002feu.1 + 14 2240 c.1855C>A c.(1855-1857)CCA>ACA p.P619T CNTNAP4_uc002fev.1_Missense_Mutation_p.P483T|CNTNAP4_uc010chb.1_Missense_Mutation_p.P546T|CNTNAP4_uc002fex.1_Missense_Mutation_p.P622T|CNTNAP4_uc002few.2_Missense_Mutation_p.P594T NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 619 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 TCCCCTGGAACCATTTCTTCT 0.333 16 78 --- --- --- --- PASS OSGIN1 29948 broad.mit.edu 37 16 83999366 83999366 + Silent SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr16:83999366C>T uc002fha.2 + 7 1820 c.1437C>T c.(1435-1437)ATC>ATT p.I479I NECAB2_uc002fhd.2_5'Flank|OSGIN1_uc002fhb.2_Silent_p.I396I|OSGIN1_uc002fhc.2_Silent_p.I396I NM_013370 NP_037502 Q9UJX0 OSGI1_HUMAN oxidative stress induced growth inhibitor 1 479 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity 0 TGGTCCTCATCGGCTCCCACC 0.637 7 29 --- --- --- --- PASS SLC7A5 8140 broad.mit.edu 37 16 87902863 87902863 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr16:87902863C>A uc002fkm.2 - 1 238 c.166G>T c.(166-168)GTG>TTG p.V56L NM_003486 NP_003477 Q01650 LAT1_HUMAN solute carrier family 7 (cationic amino acid 56 Helical; (Potential). blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development apical plasma membrane|cytosol|integral to membrane neutral amino acid transmembrane transporter activity|peptide antigen binding 0 BRCA - Breast invasive adenocarcinoma(80;0.049) ATGATGGCCACGCCGTTGAGC 0.706 6 46 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578202 7578202 + Missense_Mutation SNP A T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr17:7578202A>T uc002gim.2 - 6 841 c.647T>A c.(646-648)GTG>GAG p.V216E TP53_uc002gig.1_Missense_Mutation_p.V216E|TP53_uc002gih.2_Missense_Mutation_p.V216E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V84E|TP53_uc010cng.1_Missense_Mutation_p.V84E|TP53_uc002gii.1_Missense_Mutation_p.V84E|TP53_uc010cnh.1_Missense_Mutation_p.V216E|TP53_uc010cni.1_Missense_Mutation_p.V216E|TP53_uc002gij.2_Missense_Mutation_p.V216E|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V123E|TP53_uc002gio.2_Missense_Mutation_p.V84E|TP53_uc010vug.1_Missense_Mutation_p.V177E NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 216 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|V -> M (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V216M(49)|p.V216del(8)|p.0?(7)|p.V216L(7)|p.V216E(4)|p.V216G(3)|p.V216A(3)|p.V216fs*31(2)|p.H214fs*5(2)|p.V216fs*6(2)|p.K164_P219del(1)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V216insX(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGGCACCACCACACTATGTCG 0.537 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 7 14 --- --- --- --- PASS PFAS 5198 broad.mit.edu 37 17 8170927 8170927 + Missense_Mutation SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr17:8170927G>A uc002gkr.2 + 26 3467 c.3326G>A c.(3325-3327)CGT>CAT p.R1109H PFAS_uc010vuv.1_Missense_Mutation_p.R685H|PFAS_uc002gks.2_Missense_Mutation_p.R188H NM_012393 NP_036525 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 1109 Glutamine amidotransferase type-1. 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding ovary(2)|central_nervous_system(2)|pancreas(1) 5 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GACACTTTCCGTGGCGTGGCC 0.627 19 40 --- --- --- --- PASS MYH8 4626 broad.mit.edu 37 17 10293781 10293781 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr17:10293781C>A uc002gmm.2 - 40 5899 c.5804G>T c.(5803-5805)AGT>ATT p.S1935I uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1935 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 TTACTCTGCACTGATTTTTGT 0.473 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 18 74 --- --- --- --- PASS MYH8 4626 broad.mit.edu 37 17 10315780 10315780 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr17:10315780C>A uc002gmm.2 - 14 1418 c.1323G>T c.(1321-1323)TGG>TGT p.W441C uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 441 Myosin head-like. 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 GGGTGACCATCCACAGGAACA 0.493 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 52 106 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10433009 10433009 + Missense_Mutation SNP T C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr17:10433009T>C uc010coi.2 - 24 3117 c.2989A>G c.(2989-2991)AAG>GAG p.K997E uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.K997E|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 997 Potential. 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 TTGGTCAGCTTAGCAATGGTT 0.498 37 66 --- --- --- --- PASS MYO15A 51168 broad.mit.edu 37 17 18044424 18044424 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr17:18044424C>A uc010vxh.1 + 21 5836 c.5498C>A c.(5497-5499)CCA>CAA p.P1833Q NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 1833 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) GAGGGATTTCCAGTGCGCCTG 0.547 OREG0024223 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 28 --- --- --- --- PASS KRT14 3861 broad.mit.edu 37 17 39740083 39740083 + Nonsense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr17:39740083C>A uc002hxf.1 - 4 917 c.856G>T c.(856-858)GAG>TAG p.E286* JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Nonsense_Mutation_p.E286* NM_000526 NP_000517 P02533 K1C14_HUMAN keratin 14 286 Rod.|Coil 2. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(1) 1 Breast(137;0.000307) TCACGCATCTCGTTCAGAATG 0.562 6 150 --- --- --- --- PASS B4GALNT2 124872 broad.mit.edu 37 17 47241536 47241536 + Nonsense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr17:47241536G>T uc002ion.2 + 8 1092 c.1033G>T c.(1033-1035)GAG>TAG p.E345* B4GALNT2_uc010wlt.1_Nonsense_Mutation_p.E259*|B4GALNT2_uc010wlu.1_Nonsense_Mutation_p.E285* NM_153446 NP_703147 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 345 Lumenal (Potential). lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity large_intestine(1)|ovary(1) 2 all cancers(6;0.000316) GAGTATTCGAGAGTATTACCC 0.483 6 202 --- --- --- --- PASS ANKFN1 162282 broad.mit.edu 37 17 54451996 54451996 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr17:54451996G>T uc002iun.1 + 7 875 c.840G>T c.(838-840)ATG>ATT p.M280I NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 280 Fibronectin type-III. large_intestine(1)|ovary(1) 2 TCTGTCTCATGGTAACCAGCA 0.468 7 167 --- --- --- --- PASS TRIM37 4591 broad.mit.edu 37 17 57109409 57109409 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr17:57109409C>G uc002iwy.3 - 18 2240 c.1796G>C c.(1795-1797)AGA>ACA p.R599T TRIM37_uc002iwz.3_Missense_Mutation_p.R599T|TRIM37_uc002ixa.3_Missense_Mutation_p.R477T|TRIM37_uc010woc.1_Missense_Mutation_p.R565T NM_001005207 NP_001005207 O94972 TRI37_HUMAN tripartite motif-containing 37 protein 599 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1) 7 Medulloblastoma(34;0.0922)|all_neural(34;0.101) ATGTGTTCTTCTTGATATTCT 0.363 Mulibrey_Nanism 24 99 --- --- --- --- PASS APPBP2 10513 broad.mit.edu 37 17 58556552 58556552 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr17:58556552C>A uc002iys.1 - 4 748 c.460G>T c.(460-462)GAT>TAT p.D154Y APPBP2_uc010ddl.1_Missense_Mutation_p.D83Y NM_006380 NP_006371 Q92624 APBP2_HUMAN amyloid beta precursor protein-binding protein 154 intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) AGCATCTCATCGTGTAGAGTA 0.393 4 67 --- --- --- --- PASS EFCAB3 146779 broad.mit.edu 37 17 60460380 60460380 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr17:60460380C>G uc002izu.1 + 2 118 c.40C>G c.(40-42)CCT>GCT p.P14A EFCAB3_uc010wpc.1_Missense_Mutation_p.P66A NM_173503 NP_775774 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 isoform b 14 calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) TAAGCTGAATCCTCTAACAAA 0.299 4 71 --- --- --- --- PASS MGAT5B 146664 broad.mit.edu 37 17 74921168 74921168 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr17:74921168C>G uc002jti.2 + 8 1282 c.1179C>G c.(1177-1179)TTC>TTG p.F393L MGAT5B_uc002jth.2_Missense_Mutation_p.F382L NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN N-acetylglucosaminyltranferase VB isoform 2 382 Lumenal (Potential). Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(2)|skin(1) 3 GACTCTCCTTCAAGAAGTACC 0.657 9 65 --- --- --- --- PASS USP36 57602 broad.mit.edu 37 17 76831437 76831437 + Missense_Mutation SNP T C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr17:76831437T>C uc002jvz.1 - 4 725 c.400A>G c.(400-402)AAT>GAT p.N134D USP36_uc002jwa.1_Missense_Mutation_p.N134D|USP36_uc002jwd.1_Missense_Mutation_p.N134D NM_025090 NP_079366 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 134 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) ATGGTGGCATTGAGAAAGCAG 0.587 16 63 --- --- --- --- PASS SPIRE1 56907 broad.mit.edu 37 18 12463419 12463419 + Silent SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr18:12463419G>T uc002kre.2 - 12 1616 c.1569C>A c.(1567-1569)TCC>TCA p.S523S SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Silent_p.S389S|SPIRE1_uc010wzx.1_Silent_p.S312S|SPIRE1_uc010wzy.1_Silent_p.S509S NM_001128626 NP_001122098 Q08AE8 SPIR1_HUMAN spire homolog 1 isoform a 523 cytoskeleton|perinuclear region of cytoplasm actin binding 0 CCTTTTCAATGGAATGTCGTC 0.473 4 42 --- --- --- --- PASS LAMA3 3909 broad.mit.edu 37 18 21424984 21424984 + Silent SNP A G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr18:21424984A>G uc002kuq.2 + 30 3701 c.3615A>G c.(3613-3615)CTA>CTG p.L1205L LAMA3_uc002kur.2_Silent_p.L1205L NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 1205 Domain IV 1 (domain IV B). cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCCGTGTTCTAGTGGTGCCTG 0.348 9 31 --- --- --- --- PASS CXXC1 30827 broad.mit.edu 37 18 47812290 47812290 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr18:47812290C>G uc002leq.3 - 5 1201 c.468G>C c.(466-468)CAG>CAC p.Q156H CXXC1_uc002lep.3_Missense_Mutation_p.Q13H|CXXC1_uc002ler.3_Missense_Mutation_p.Q156H|CXXC1_uc010doy.2_Missense_Mutation_p.Q156H|CXXC1_uc002les.2_Missense_Mutation_p.Q156H NM_014593 NP_055408 Q9P0U4 CXXC1_HUMAN CXXC finger 1 (PHD domain) isoform 2 156 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 gctgctgctgctggtgatgct 0.468 3 19 --- --- --- --- PASS ATP8B1 5205 broad.mit.edu 37 18 55361814 55361814 + Silent SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr18:55361814C>T uc002lgw.2 - 10 1029 c.1029G>A c.(1027-1029)ACG>ACA p.T343T uc002lgv.1_Intron NM_005603 NP_005594 O43520 AT8B1_HUMAN ATPase, class I, type 8B, member 1 343 Helical; (Potential). ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(5)|ovary(2)|central_nervous_system(2)|lung(1) 10 Colorectal(73;0.229) AAATAAATACCGTGTAAACCA 0.303 Byler_disease 4 18 --- --- --- --- PASS SOCS6 9306 broad.mit.edu 37 18 67992780 67992780 + Silent SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr18:67992780C>A uc002lkr.1 + 2 1192 c.876C>A c.(874-876)ACC>ACA p.T292T SOCS6_uc010dqq.2_Silent_p.T292T NM_004232 NP_004223 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 292 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm large_intestine(1)|lung(1) 2 Esophageal squamous(42;0.129)|Colorectal(73;0.152) TGATTGGCACCACGGGAGTCA 0.542 5 88 --- --- --- --- PASS PLIN4 729359 broad.mit.edu 37 19 4512463 4512463 + Silent SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr19:4512463G>T uc002mar.1 - 3 1467 c.1467C>A c.(1465-1467)TCC>TCA p.S489S PLIN4_uc010dub.1_5'Flank NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN plasma membrane associated protein, S3-12 489 27 X 33 AA approximate tandem repeat.|12. lipid particle|plasma membrane 0 TGAGCCCAGTGGACACAGCAT 0.617 27 103 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9072615 9072615 + Missense_Mutation SNP T C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr19:9072615T>C uc002mkp.2 - 3 15035 c.14831A>G c.(14830-14832)GAT>GGT p.D4944G NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4946 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGTGGACTGATCAGGGCCAGG 0.498 16 100 --- --- --- --- PASS RGL3 57139 broad.mit.edu 37 19 11515847 11515847 + Silent SNP G C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr19:11515847G>C uc002mrp.2 - 9 1225 c.1161C>G c.(1159-1161)CTC>CTG p.L387L RGL3_uc002mrn.2_Silent_p.L151L|RGL3_uc002mrm.2_Silent_p.L151L|RGL3_uc002mro.2_Silent_p.L387L NM_001035223 NP_001030300 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation 387 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular ovary(1) 1 CTCTGCTGCTGAGGTGGTTGT 0.542 20 97 --- --- --- --- PASS RGL3 57139 broad.mit.edu 37 19 11515889 11515889 + Missense_Mutation SNP G C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr19:11515889G>C uc002mrp.2 - 9 1183 c.1119C>G c.(1117-1119)TTC>TTG p.F373L RGL3_uc002mrn.2_Missense_Mutation_p.F137L|RGL3_uc002mrm.2_Missense_Mutation_p.F137L|RGL3_uc002mro.2_Missense_Mutation_p.F373L NM_001035223 NP_001030300 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation 373 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular ovary(1) 1 AAAGTTTCCTGAAAGTAGATA 0.547 16 80 --- --- --- --- PASS ZNF564 163050 broad.mit.edu 37 19 12638156 12638156 + Nonsense_Mutation SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr19:12638156G>A uc002mty.2 - 4 976 c.766C>T c.(766-768)CAG>TAG p.Q256* ZNF709_uc002mtx.3_Intron NM_144976 NP_659413 Q8TBZ8 ZN564_HUMAN zinc finger protein 564 256 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CCACATTCCTGACATTTATAA 0.413 16 70 --- --- --- --- PASS MAST1 22983 broad.mit.edu 37 19 12969501 12969501 + Silent SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr19:12969501C>T uc002mvm.2 + 12 1442 c.1314C>T c.(1312-1314)TTC>TTT p.F438F MAST1_uc002mvk.2_Silent_p.F434F NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 438 Protein kinase. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 TCGGCATGTTCTGCTCCTTTG 0.587 10 31 --- --- --- --- PASS MAP1S 55201 broad.mit.edu 37 19 17835935 17835935 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr19:17835935G>T uc002nhe.1 + 4 390 c.381G>T c.(379-381)GAG>GAT p.E127D MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Missense_Mutation_p.E127D|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Missense_Mutation_p.E101D NM_018174 NP_060644 Q66K74 MAP1S_HUMAN BPY2 interacting protein 1 127 Necessary for the microtubule-organizing center localization. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding central_nervous_system(1) 1 AGACGGGGGAGCTGCTGCTAC 0.617 24 47 --- --- --- --- PASS ZNF714 148206 broad.mit.edu 37 19 21299686 21299686 + Silent SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr19:21299686G>A uc002npo.3 + 5 576 c.216G>A c.(214-216)CTG>CTA p.L72L ZNF714_uc002npl.2_5'UTR|ZNF714_uc010ecp.1_Silent_p.L24L|ZNF714_uc002npn.2_RNA NM_182515 NP_872321 Q96N38 ZN714_HUMAN zinc finger protein 714 72 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAGTGATACTGAGAAGACATG 0.353 8 53 --- --- --- --- PASS ATP4A 495 broad.mit.edu 37 19 36050025 36050025 + Silent SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr19:36050025C>A uc002oal.1 - 8 1154 c.1125G>T c.(1123-1125)GTG>GTT p.V375V ATP4A_uc010eee.1_5'Flank NM_000704 NP_000695 P20648 ATP4A_HUMAN hydrogen/potassium-exchanging ATPase 4A 375 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding ovary(1) 1 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) CCAATGTCTCCACCGCCTCCA 0.597 7 260 --- --- --- --- PASS LGALS4 3960 broad.mit.edu 37 19 39297206 39297206 + Silent SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr19:39297206C>T uc002ojg.2 - 4 583 c.369G>A c.(367-369)GAG>GAA p.E123E LGALS4_uc010xuj.1_Silent_p.E123E NM_006149 NP_006140 P56470 LEG4_HUMAN galectin-4 123 Galectin 1. cell adhesion cytosol|plasma membrane sugar binding ovary(1)|skin(1) 2 all_cancers(60;1.02e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) GGTGCCCGTACTCATAGAAGG 0.552 28 22 --- --- --- --- PASS IRGC 56269 broad.mit.edu 37 19 44223137 44223137 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr19:44223137C>G uc002oxh.2 + 2 574 c.427C>G c.(427-429)CGC>GGC p.R143G NM_019612 NP_062558 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 143 membrane GTP binding|hydrolase activity, acting on acid anhydrides ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(69;0.0435) GGTCTCCCCCCGCCGCTGCGG 0.652 3 3 --- --- --- --- PASS DHX34 9704 broad.mit.edu 37 19 47883023 47883023 + Silent SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr19:47883023G>T uc010xyn.1 + 14 3104 c.2763G>T c.(2761-2763)GTG>GTT p.V921V DHX34_uc010xyo.1_Silent_p.V50V NM_014681 NP_055496 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 921 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 all_cancers(25;1.65e-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;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) CCCGCCTGGTGGCCGATGGCT 0.632 4 38 --- --- --- --- PASS CCDC155 147872 broad.mit.edu 37 19 49910146 49910146 + Missense_Mutation SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr19:49910146G>A uc002pnm.1 + 10 976 c.802G>A c.(802-804)GGG>AGG p.G268R CCDC155_uc010emx.1_Missense_Mutation_p.G241R NM_144688 NP_653289 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 268 Potential. integral to membrane calcium ion binding ovary(1)|central_nervous_system(1) 2 CTTCTAGAACGGGAAGCTGCT 0.398 5 19 --- --- --- --- PASS KLK1 3816 broad.mit.edu 37 19 51323551 51323551 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr19:51323551G>T uc002ptk.1 - 3 394 c.355C>A c.(355-357)CAC>AAC p.H119N KLK1_uc010ycg.1_RNA NM_002257 NP_002248 P06870 KLK1_HUMAN kallikrein 1 preproprotein 119 Peptidase S1. 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) ATGAGGTCGTGGCTGTAGTCC 0.587 5 77 --- --- --- --- PASS SIGLEC12 89858 broad.mit.edu 37 19 52003549 52003549 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr19:52003549G>T uc002pwx.1 - 2 489 c.433C>A c.(433-435)CAG>AAG p.Q145K SIGLEC12_uc002pww.1_Missense_Mutation_p.Q27K|SIGLEC12_uc010eoy.1_Intron NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN sialic acid binding immunoglobulin-like 145 Ig-like V-type 2.|Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|skin(2) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) AGTAGGTCCTGGGACGCTGTG 0.592 17 34 --- --- --- --- PASS ZNF614 80110 broad.mit.edu 37 19 52520455 52520455 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr19:52520455C>G uc002pyj.2 - 5 798 c.396G>C c.(394-396)TTG>TTC p.L132F ZNF614_uc002pyi.3_Missense_Mutation_p.L132F|ZNF614_uc010epj.2_5'UTR NM_025040 NP_079316 Q8N883 ZN614_HUMAN zinc finger protein 614 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 5 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TTTTTCTGTACAAGTCAAATG 0.338 7 20 --- --- --- --- PASS ZNF765 91661 broad.mit.edu 37 19 53912075 53912075 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr19:53912075C>A uc010ydx.1 + 6 1594 c.1267C>A c.(1267-1269)CAG>AAG p.Q423K ZNF765_uc002qbm.2_Missense_Mutation_p.Q423K|ZNF765_uc002qbn.2_Intron NM_001040185 NP_001035275 Q7L2R6 ZN765_HUMAN zinc finger protein 765 423 C2H2-type 8; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00379) CTTCAATCAGCAGTTAACCCT 0.373 53 67 --- --- --- --- PASS LILRA4 23547 broad.mit.edu 37 19 54849797 54849797 + Silent SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr19:54849797C>A uc002qfj.2 - 3 282 c.225G>T c.(223-225)CTG>CTT p.L75L LILRA4_uc002qfi.2_Silent_p.L9L NM_012276 NP_036408 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor subfamily 75 Ig-like C2-type 1.|Extracellular (Potential). integral to membrane receptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) TTTCAGACTCCAGTGTTTTTA 0.517 6 186 --- --- --- --- PASS LILRA2 11027 broad.mit.edu 37 19 55087554 55087554 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr19:55087554C>A uc002qgg.3 + 6 1322 c.1233C>A c.(1231-1233)GAC>GAA p.D411E LILRA2_uc010ern.2_Missense_Mutation_p.D411E|LILRA2_uc002qgf.2_Missense_Mutation_p.D411E|LILRA2_uc010yfe.1_Missense_Mutation_p.D411E|LILRA2_uc010yff.1_Missense_Mutation_p.D399E|LILRA2_uc010ero.2_Missense_Mutation_p.D399E|LILRA2_uc010yfg.1_Intron NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 411 Ig-like C2-type 4.|Extracellular (Potential). defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) TCCCCAGTGACCCCCTGGAGC 0.612 113 120 --- --- --- --- PASS BRSK1 84446 broad.mit.edu 37 19 55813535 55813535 + Silent SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr19:55813535C>T uc002qkg.2 + 9 1133 c.856C>T c.(856-858)CTA>TTA p.L286L BRSK1_uc002qkf.2_Silent_p.L302L|BRSK1_uc002qkh.2_5'UTR NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 286 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1) 6 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) TCCTTGGTACCTGTGAGTATG 0.562 OREG0025680 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 101 374 --- --- --- --- PASS NLRP11 204801 broad.mit.edu 37 19 56297101 56297101 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr19:56297101G>T uc010ygf.1 - 12 3703 c.2992C>A c.(2992-2994)CAG>AAG p.Q998K NLRP11_uc002qlz.2_Missense_Mutation_p.Q845K|NLRP11_uc002qmb.2_Missense_Mutation_p.Q899K|NLRP11_uc002qmc.2_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 998 ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) GAACCTGGCTGAGAAGCAGGT 0.393 5 124 --- --- --- --- PASS USP29 57663 broad.mit.edu 37 19 57640914 57640914 + Missense_Mutation SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr19:57640914G>A uc002qny.2 + 4 1227 c.871G>A c.(871-873)GGA>AGA p.G291R NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 291 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCCCAATTTGGGAAACACCTG 0.468 19 41 --- --- --- --- PASS SLC23A2 9962 broad.mit.edu 37 20 4866555 4866555 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr20:4866555C>A uc002wlg.1 - 7 858 c.483G>T c.(481-483)AGG>AGT p.R161S SLC23A2_uc010zqr.1_Intron|SLC23A2_uc002wlh.1_Missense_Mutation_p.R161S|SLC23A2_uc002wli.2_Missense_Mutation_p.R160S NM_005116 NP_005107 Q9UGH3 S23A2_HUMAN solute carrier family 23 (nucleobase 161 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 ACAGGGGTAACCTAAAAGAAA 0.443 9 29 --- --- --- --- PASS SEC23B 10483 broad.mit.edu 37 20 18529360 18529360 + Silent SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr20:18529360C>T uc002wqz.1 + 16 2294 c.1851C>T c.(1849-1851)TCC>TCT p.S617S SEC23B_uc002wra.1_Silent_p.S617S|SEC23B_uc002wrb.1_Silent_p.S617S|SEC23B_uc010zsb.1_Silent_p.S599S|SEC23B_uc002wrc.1_Silent_p.S617S NM_006363 NP_006354 Q15437 SC23B_HUMAN Sec23 homolog B 617 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding ovary(1) 1 TGACCCAGTCCCTCATCATGA 0.473 5 41 --- --- --- --- PASS PPDPF 79144 broad.mit.edu 37 20 62153023 62153023 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr20:62153023C>G uc002yff.2 + 4 276 c.136C>G c.(136-138)CTC>GTC p.L46V NM_024299 NP_077275 Q9H3Y8 PPDPF_HUMAN pancreatic progenitor cell differentiation and 46 cell differentiation|multicellular organismal development 0 TCTCTCAGGTCTCCCCAAGGC 0.632 5 39 --- --- --- --- PASS CLDN8 9073 broad.mit.edu 37 21 31588225 31588225 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr21:31588225C>G uc002ynu.1 - 1 94 c.19G>C c.(19-21)GAA>CAA p.E7Q NM_199328 NP_955360 P56748 CLD8_HUMAN claudin 8 7 Cytoplasmic (Potential). calcium-independent cell-cell adhesion endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity 0 CCAGCGATTTCTAAGGCATGG 0.512 10 37 --- --- --- --- PASS KRTAP19-3 337970 broad.mit.edu 37 21 31864183 31864183 + Silent SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr21:31864183G>A uc002yog.1 - 1 93 c.93C>T c.(91-93)AGC>AGT p.S31S NM_181609 NP_853640 Q7Z4W3 KR193_HUMAN keratin associated protein 19-3 31 intermediate filament 0 GTCTGCGGAAGCTGCCACATC 0.577 39 119 --- --- --- --- PASS COL18A1 80781 broad.mit.edu 37 21 46897366 46897366 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr21:46897366G>T uc011afs.1 + 6 2236 c.2215G>T c.(2215-2217)GGG>TGG p.G739W COL18A1_uc002zhg.2_Missense_Mutation_p.G324W|COL18A1_uc002zhi.2_Missense_Mutation_p.G504W NM_130444 NP_569711 P39060 COIA1_HUMAN alpha 1 type XVIII collagen isoform 3 precursor 739 Nonhelical region 1 (NC1). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding central_nervous_system(1) 1 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CACGTGGGACGGGAGTGTCCG 0.642 3 6 --- --- --- --- PASS PCNT 5116 broad.mit.edu 37 21 47754536 47754536 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr21:47754536C>A uc002zji.3 + 3 600 c.493C>A c.(493-495)CCA>ACA p.P165T PCNT_uc002zjj.2_Missense_Mutation_p.P47T|PCNT_uc010gqk.1_RNA NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 165 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) CAGTGACCACCCACCAGAACA 0.547 5 80 --- --- --- --- PASS SLC25A18 83733 broad.mit.edu 37 22 18064177 18064177 + Missense_Mutation SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr22:18064177G>A uc002zmp.1 + 5 691 c.197G>A c.(196-198)CGA>CAA p.R66Q SLC25A18_uc010gqx.2_Missense_Mutation_p.R66Q|SLC25A18_uc002zmq.1_Missense_Mutation_p.R66Q NM_031481 NP_113669 Q9H1K4 GHC2_HUMAN solute carrier 66 Solcar 1.|Helical; Name=2; (Potential). integral to membrane|mitochondrial inner membrane binding|symporter activity 0 Lung(27;0.124) L-Glutamic Acid(DB00142) GGCATGTACCGAGGTGGGCTT 0.637 20 45 --- --- --- --- PASS TCN2 6948 broad.mit.edu 37 22 31003382 31003382 + Nonsense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr22:31003382G>T uc003aip.1 + 1 222 c.64G>T c.(64-66)GAA>TAA p.E22* PES1_uc003ain.1_5'Flank|PES1_uc003aio.1_5'Flank|TCN2_uc003aiq.1_Nonsense_Mutation_p.E22*|TCN2_uc003air.1_Nonsense_Mutation_p.E22* NM_000355 NP_000346 P20062 TCO2_HUMAN transcobalamin II precursor 22 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular space cobalamin binding central_nervous_system(1) 1 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGAGATGTGTGGTGAGTAACT 0.542 5 29 --- --- --- --- PASS DEPDC5 9681 broad.mit.edu 37 22 32241209 32241209 + Missense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr22:32241209G>T uc003als.2 + 30 3122 c.2980G>T c.(2980-2982)GAT>TAT p.D994Y DEPDC5_uc011als.1_Missense_Mutation_p.D925Y|DEPDC5_uc011alu.1_Missense_Mutation_p.D1003Y|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.D994Y|DEPDC5_uc003alu.2_Missense_Mutation_p.D443Y|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.D324Y|DEPDC5_uc003alw.2_Missense_Mutation_p.D292Y|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_5'UTR NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 994 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 GCATCGCTCGGATCGCATGAT 0.607 8 17 --- --- --- --- PASS SLC5A1 6523 broad.mit.edu 37 22 32477933 32477933 + Silent SNP A G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr22:32477933A>G uc003amc.2 + 6 790 c.558A>G c.(556-558)GCA>GCG p.A186A SLC5A1_uc011alz.1_Silent_p.A59A NM_000343 NP_000334 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose 186 Helical; (Potential). carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding skin(1) 1 TCTTATTGGCAATCACTGCCC 0.478 12 67 --- --- --- --- PASS CYTH4 27128 broad.mit.edu 37 22 37707538 37707538 + Silent SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr22:37707538G>A uc003arf.2 + 11 1043 c.927G>A c.(925-927)TCG>TCA p.S309S CYTH4_uc011amw.1_Silent_p.S252S|CYTH4_uc010gxe.2_Intron NM_013385 NP_037517 Q9UIA0 CYH4_HUMAN cytohesin 4 309 PH. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 AGAACCTCTCGGTGCAGAAGG 0.562 11 32 --- --- --- --- PASS TUBGCP6 85378 broad.mit.edu 37 22 50662625 50662625 + Nonsense_Mutation SNP G A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr22:50662625G>A uc003bkb.1 - 13 2727 c.2215C>T c.(2215-2217)CGA>TGA p.R739* TUBGCP6_uc003bka.1_5'Flank|TUBGCP6_uc010har.1_Nonsense_Mutation_p.R739*|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_5'UTR|TUBGCP6_uc003bkd.1_Nonsense_Mutation_p.R93* NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 739 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) TCCCTGTCTCGGAGTTCACGG 0.627 12 33 --- --- --- --- PASS CSF2RA 1438 broad.mit.edu 37 X 1424405 1424405 + Missense_Mutation SNP T A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chrX:1424405T>A uc010nct.2 + 13 1432 c.1110T>A c.(1108-1110)CAT>CAA p.H370Q CSF2RA_uc011mhb.1_Missense_Mutation_p.H370Q|CSF2RA_uc004cpq.2_3'UTR|CSF2RA_uc004cpn.2_Missense_Mutation_p.H370Q|CSF2RA_uc004cpo.2_Missense_Mutation_p.H370Q|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Missense_Mutation_p.H237Q|CSF2RA_uc004cpp.2_Intron|CSF2RA_uc010ncv.2_Missense_Mutation_p.H404Q|CSF2RA_uc004cpr.2_3'UTR NM_001161529 NP_001155001 P15509 CSF2R_HUMAN colony stimulating factor 2 receptor alpha chain 370 Cytoplasmic (Potential). extracellular region|integral to plasma membrane cytokine receptor activity ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) ATGATAACCATGAGGTGGAAG 0.552 7 197 --- --- --- --- PASS NLGN4X 57502 broad.mit.edu 37 X 5811256 5811256 + Missense_Mutation SNP G C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chrX:5811256G>C uc010ndh.2 - 6 2554 c.2053C>G c.(2053-2055)CTC>GTC p.L685V NLGN4X_uc004crp.2_Missense_Mutation_p.L705V|NLGN4X_uc004crq.2_Missense_Mutation_p.L685V|NLGN4X_uc010ndi.2_Missense_Mutation_p.L722V|NLGN4X_uc004crr.2_Missense_Mutation_p.L685V|NLGN4X_uc010ndj.2_Missense_Mutation_p.L685V NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 685 Helical; (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 AGGAAGAGGAGCGACGCCCCG 0.532 44 23 --- --- --- --- PASS ZNF41 7592 broad.mit.edu 37 X 47308087 47308087 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chrX:47308087C>A uc004dhs.3 - 4 1275 c.1208G>T c.(1207-1209)GGA>GTA p.G403V ZNF41_uc004dhu.3_Missense_Mutation_p.G395V|ZNF41_uc004dht.3_Missense_Mutation_p.G275V|ZNF41_uc004dhv.3_Missense_Mutation_p.G371V|ZNF41_uc004dhw.3_Missense_Mutation_p.G363V|ZNF41_uc004dhy.3_Missense_Mutation_p.G361V|ZNF41_uc004dhx.3_Missense_Mutation_p.G361V|ZNF41_uc011mlm.1_Missense_Mutation_p.G275V NM_153380 NP_700359 P51814 ZNF41_HUMAN zinc finger protein 41 403 C2H2-type 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 all_lung(315;0.000129) AAAGGCTTTTCCACATTCACT 0.403 8 22 --- --- --- --- PASS ZNF41 7592 broad.mit.edu 37 X 47308088 47308088 + Nonsense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chrX:47308088C>A uc004dhs.3 - 4 1274 c.1207G>T c.(1207-1209)GGA>TGA p.G403* ZNF41_uc004dhu.3_Nonsense_Mutation_p.G395*|ZNF41_uc004dht.3_Nonsense_Mutation_p.G275*|ZNF41_uc004dhv.3_Nonsense_Mutation_p.G371*|ZNF41_uc004dhw.3_Nonsense_Mutation_p.G363*|ZNF41_uc004dhy.3_Nonsense_Mutation_p.G361*|ZNF41_uc004dhx.3_Nonsense_Mutation_p.G361*|ZNF41_uc011mlm.1_Nonsense_Mutation_p.G275* NM_153380 NP_700359 P51814 ZNF41_HUMAN zinc finger protein 41 403 C2H2-type 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 all_lung(315;0.000129) AAGGCTTTTCCACATTCACTG 0.398 8 22 --- --- --- --- PASS XAGE3 170626 broad.mit.edu 37 X 52893869 52893869 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chrX:52893869C>G uc004dre.2 - 4 308 c.248G>C c.(247-249)GGA>GCA p.G83A XAGE3_uc004drf.2_Missense_Mutation_p.G83A NM_130776 NP_570132 Q8WTP9 GAGD4_HUMAN XAGE-3 protein 83 0 AGGACCATTTCCACATTCACC 0.433 18 28 --- --- --- --- PASS FAM123B 139285 broad.mit.edu 37 X 63412922 63412922 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chrX:63412922C>A uc004dvo.2 - 2 518 c.245G>T c.(244-246)GGG>GTG p.G82V NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 82 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 GCTGCCTTTCCCAGAACCTTT 0.527 11 17 --- --- --- --- PASS ATRX 546 broad.mit.edu 37 X 76889176 76889176 + Missense_Mutation SNP G C C TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chrX:76889176G>C uc004ecp.3 - 18 5066 c.4834C>G c.(4834-4836)CTT>GTT p.L1612V ATRX_uc004ecq.3_Missense_Mutation_p.L1574V|ATRX_uc004eco.3_Missense_Mutation_p.L1397V NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1612 Helicase ATP-binding. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) TCACACAAAAGAACTGTATGA 0.328 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 11 10 --- --- --- --- PASS TBX22 50945 broad.mit.edu 37 X 79282782 79282782 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chrX:79282782C>G uc010nmg.1 + 7 960 c.826C>G c.(826-828)CCT>GCT p.P276A TBX22_uc004edi.1_Missense_Mutation_p.P156A|TBX22_uc004edj.1_Missense_Mutation_p.P276A NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 276 T-box. multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 AGAAAGAAATCCTTTTGCTAA 0.318 3 10 --- --- --- --- PASS BRWD3 254065 broad.mit.edu 37 X 79971739 79971739 + Missense_Mutation SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chrX:79971739C>T uc004edt.2 - 20 2505 c.2242G>A c.(2242-2244)GAA>AAA p.E748K BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.E344K|BRWD3_uc004edp.2_Missense_Mutation_p.E577K|BRWD3_uc004edq.2_Missense_Mutation_p.E344K|BRWD3_uc010nmj.1_Missense_Mutation_p.E344K|BRWD3_uc004edr.2_Missense_Mutation_p.E418K|BRWD3_uc004eds.2_Missense_Mutation_p.E344K|BRWD3_uc004edu.2_Missense_Mutation_p.E418K|BRWD3_uc004edv.2_Missense_Mutation_p.E344K|BRWD3_uc004edw.2_Missense_Mutation_p.E344K|BRWD3_uc004edx.2_Missense_Mutation_p.E344K|BRWD3_uc004edy.2_Missense_Mutation_p.E344K|BRWD3_uc004edz.2_Missense_Mutation_p.E418K|BRWD3_uc004eea.2_Missense_Mutation_p.E418K|BRWD3_uc004eeb.2_Missense_Mutation_p.E344K NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 748 ovary(4) 4 GTTCGACATTCTTCCTGTACC 0.294 12 20 --- --- --- --- PASS CYLC1 1538 broad.mit.edu 37 X 83128726 83128726 + Missense_Mutation SNP C G G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chrX:83128726C>G uc004eei.1 + 4 1031 c.1010C>G c.(1009-1011)TCT>TGT p.S337C CYLC1_uc004eeh.1_Missense_Mutation_p.S336C NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 337 2. cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 GATGCTGAATCTGGAGACTCa 0.234 10 12 --- --- --- --- PASS NRK 203447 broad.mit.edu 37 X 105152885 105152885 + Missense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chrX:105152885C>A uc004emd.2 + 13 1555 c.1252C>A c.(1252-1254)CCA>ACA p.P418T NRK_uc010npc.1_Missense_Mutation_p.P86T NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 418 Gln-rich. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 GGTATTCATGCCACTGCAGGC 0.597 HNSCC(51;0.14) 10 15 --- --- --- --- PASS RGAG1 57529 broad.mit.edu 37 X 109694758 109694758 + Nonsense_Mutation SNP G T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chrX:109694758G>T uc004eor.1 + 3 1159 c.913G>T c.(913-915)GGA>TGA p.G305* RGAG1_uc011msr.1_Nonsense_Mutation_p.G305* NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 305 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 TCTAGACTCTGGAATAATGTC 0.478 6 113 --- --- --- --- PASS AMOT 154796 broad.mit.edu 37 X 112058618 112058618 + Nonsense_Mutation SNP C A A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chrX:112058618C>A uc004epr.2 - 2 1360 c.1360G>T c.(1360-1362)GGA>TGA p.G454* AMOT_uc004eps.2_Nonsense_Mutation_p.G45*|AMOT_uc004ept.1_Nonsense_Mutation_p.G454* NM_001113490 NP_001106962 Q4VCS5 AMOT_HUMAN angiomotin isoform 1 454 Potential. actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction angiostatin binding|protein binding|receptor activity ovary(1) 1 TCATAGCATCCTTCCAACTCT 0.478 7 164 --- --- --- --- PASS OPN1LW 5956 broad.mit.edu 37 X 153416411 153416411 + Silent SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chrX:153416411C>T uc004fjz.3 + 2 429 c.396C>T c.(394-396)ACC>ACT p.T132T NM_020061 NP_064445 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 132 Helical; Name=3; (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity 0 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGGGCTACACCGTCTCCCTGT 0.607 12 17 --- --- --- --- PASS F8 2157 broad.mit.edu 37 X 154185447 154185447 + Splice_Site SNP C T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chrX:154185447C>T uc004fmt.2 - 11 1709 c.1538_splice c.e11-1 p.G513_splice NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TGTTTTACACCTACCCACAAG 0.363 12 10 --- --- --- --- PASS PHTF1 10745 broad.mit.edu 37 1 114242392 114242393 + Frame_Shift_Ins INS - T T TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr1:114242392_114242393insT uc009wgp.1 - 16 2527_2528 c.2075_2076insA c.(2074-2076)AAGfs p.K692fs PHTF1_uc001edm.2_Frame_Shift_Ins_p.K449fs NM_006608 NP_006599 Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 692 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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) TCTTATTTGGCTTTTTTTCCAT 0.282 4 2 --- --- --- --- ANKRD36 375248 broad.mit.edu 37 2 97823873 97823873 + Frame_Shift_Del DEL A - - TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr2:97823873delA uc010yva.1 + 16 1534 c.1290delA c.(1288-1290)AGAfs p.R430fs ANKRD36_uc010yuz.1_RNA|ANKRD36_uc010fic.2_Frame_Shift_Del_p.R149fs|ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_RNA NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 430 0 TTACGAACAGAAGGACTATTT 0.259 3 4 --- --- --- --- TGIF1 7050 broad.mit.edu 37 18 3452223 3452223 + Frame_Shift_Del DEL T - - rs11571510 TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr18:3452223delT uc002klz.2 + 1 633 c.246delT c.(244-246)CCTfs p.P82fs TGIF1_uc002klu.2_Intron|TGIF1_uc002klv.2_Intron|TGIF1_uc002klx.2_Intron|TGIF1_uc002klw.2_Intron|TGIF1_uc010dkm.1_Intron|TGIF1_uc002kly.2_Intron|TGIF1_uc002kma.2_Intron|TGIF1_uc002kmb.2_5'Flank NM_170695 NP_733796 Q15583 TGIF1_HUMAN TG-interacting factor isoform a 82 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Esophageal squamous(4;0.0859) Colorectal(8;0.0104) GCGCCCCCCCTCCTCCACCGG 0.766 6 3 --- --- --- --- A1BG 1 broad.mit.edu 37 19 58861774 58861774 + Frame_Shift_Del DEL C - - TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx d3320989-71fd-425b-933e-6e8528a016ed 61812dcb-a44c-4e00-9527-4a5146f617c1 g.chr19:58861774delC uc002qsd.3 - 6 1216 c.1154delG c.(1153-1155)GGCfs p.G385fs NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_RNA|NCRNA00181_uc002qsg.2_5'Flank NM_130786 NP_570602 P04217 A1BG_HUMAN alpha 1B-glycoprotein precursor 385 Ig-like V-type 4. extracellular region 0 all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269) GGGCGCGGAGCCCCCGAAAGG 0.701 3 4 --- --- --- ---