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 CASZ1 54897 broad.mit.edu 37 1 10714050 10714050 + Missense_Mutation SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:10714050G>C uc001aro.2 - 11 2384 c.2064C>G c.(2062-2064)CAC>CAG p.H688Q CASZ1_uc001arp.1_Missense_Mutation_p.H688Q|CASZ1_uc009vmx.2_Missense_Mutation_p.H712Q NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 688 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GCTTGCGCTTGTGAGAGGTCA 0.667 16 49 --- --- --- --- PASS MTOR 2475 broad.mit.edu 37 1 11298013 11298013 + Missense_Mutation SNP C G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:11298013C>G uc001asd.2 - 13 2216 c.2095G>C c.(2095-2097)GCT>CCT p.A699P NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 699 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 TCATTCAGAGCCACAAACAAG 0.572 93 65 --- --- --- --- PASS ARHGEF10L 55160 broad.mit.edu 37 1 17964465 17964465 + Silent SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:17964465G>T uc001ban.2 + 19 2169 c.2010G>T c.(2008-2010)ACG>ACT p.T670T ARHGEF10L_uc009vpe.1_Silent_p.T631T|ARHGEF10L_uc001bao.2_Silent_p.T631T|ARHGEF10L_uc001bap.2_Silent_p.T626T|ARHGEF10L_uc010ocr.1_Silent_p.T428T|ARHGEF10L_uc001baq.2_Silent_p.T431T|ARHGEF10L_uc010ocs.1_Silent_p.T443T|ARHGEF10L_uc001bar.2_Silent_p.T373T|ARHGEF10L_uc009vpf.2_RNA NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 670 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(1)|ovary(1)|pancreas(1) 3 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) AGCAGATCACGCTTCTCATCA 0.617 13 7 --- --- --- --- PASS MYOM3 127294 broad.mit.edu 37 1 24384078 24384078 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:24384078G>T uc001bin.3 - 37 4253 c.4090C>A c.(4090-4092)CCT>ACT p.P1364T MYOM3_uc001bil.3_Missense_Mutation_p.P257T|MYOM3_uc001bim.3_Missense_Mutation_p.P1021T NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 1364 Ig-like C2-type 4. skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GAGATTTCAGGGGTGGGGTCT 0.507 53 37 --- --- --- --- PASS EXTL1 2134 broad.mit.edu 37 1 26359739 26359739 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:26359739C>A uc001blf.2 + 8 2318 c.1451C>A c.(1450-1452)CCA>CAA p.P484Q NM_004455 NP_004446 Q92935 EXTL1_HUMAN exostoses-like 1 484 Lumenal (Potential). skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) CGCTTCTACCCATATAGCACC 0.572 49 48 --- --- --- --- PASS CCDC21 64793 broad.mit.edu 37 1 26581751 26581751 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:26581751G>T uc001bls.1 + 4 429 c.298G>T c.(298-300)GGG>TGG p.G100W CCDC21_uc001blr.2_Missense_Mutation_p.G100W|CCDC21_uc010ofa.1_Missense_Mutation_p.G49W NM_022778 NP_073615 Q6P2H3 CEP85_HUMAN coiled-coil domain containing 21 100 centrosome|nucleolus|spindle pole 0 all_cancers(24;7e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.6e-26)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;9.48e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00917)|READ - Rectum adenocarcinoma(331;0.0649) TTCTACTTTAGGGACCTCTCC 0.498 119 279 --- --- --- --- PASS CLSPN 63967 broad.mit.edu 37 1 36226273 36226273 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:36226273C>A uc001bzi.2 - 8 1329 c.1249G>T c.(1249-1251)GAC>TAC p.D417Y CLSPN_uc009vux.2_Missense_Mutation_p.D417Y NM_022111 NP_071394 Q9HAW4 CLSPN_HUMAN claspin 417 activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm anaphase-promoting complex binding|DNA binding breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1) 8 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GGTCTAATGTCACTCTGCTTC 0.453 126 323 --- --- --- --- PASS GJA9 81025 broad.mit.edu 37 1 39341485 39341485 + Missense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:39341485C>T uc001cct.1 - 2 567 c.286G>A c.(286-288)GCA>ACA p.A96T RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank NM_030772 NP_110399 P57773 CXA9_HUMAN gap junction protein, alpha 9, 59kDa 96 Helical; (Potential). cell communication connexon complex|integral to membrane 0 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) CGGTACAATGCATGGCCCATG 0.468 169 354 --- --- --- --- PASS KCNQ4 9132 broad.mit.edu 37 1 41304020 41304020 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:41304020G>T uc001cgh.1 + 14 1995 c.1913G>T c.(1912-1914)GGC>GTC p.G638V KCNQ4_uc001cgi.1_Missense_Mutation_p.G584V NM_004700 NP_004691 P56696 KCNQ4_HUMAN potassium voltage-gated channel KQT-like protein 638 |Cytoplasmic.|A-domain (Tetramerization). sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1) 1 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) CTGCTGTTGGGCTTCTATTCG 0.706 130 124 --- --- --- --- PASS TIE1 7075 broad.mit.edu 37 1 43782945 43782945 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:43782945C>A uc001ciu.2 + 15 2564 c.2485C>A c.(2485-2487)CTG>ATG p.L829M TIE1_uc010oke.1_Missense_Mutation_p.L784M|TIE1_uc009vwq.2_Missense_Mutation_p.L785M|TIE1_uc010okg.1_Missense_Mutation_p.L474M NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 829 Cytoplasmic (Potential). mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCCCGAGCCCCTGAGCTACCC 0.602 65 128 --- --- --- --- PASS AGBL4 84871 broad.mit.edu 37 1 49332895 49332895 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:49332895C>A uc001cru.2 - 6 760 c.602G>T c.(601-603)CGA>CTA p.R201L AGBL4_uc010omw.1_5'UTR|AGBL4_uc010omx.1_Missense_Mutation_p.R213L|AGBL4_uc001crv.1_Missense_Mutation_p.R54L|AGBL4_uc010omy.1_Missense_Mutation_p.R54L NM_032785 NP_116174 Q5VU57 CBPC6_HUMAN ATP/GTP binding protein-like 4 201 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(1)|breast(1) 2 Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037) GTCAAGCTTTCGTTGTTGCTG 0.498 29 24 --- --- --- --- PASS PRKAA2 5563 broad.mit.edu 37 1 57173172 57173172 + Missense_Mutation SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:57173172G>C uc001cyk.3 + 9 1516 c.1445G>C c.(1444-1446)GGT>GCT p.G482A NM_006252 NP_006243 P54646 AAPK2_HUMAN AMP-activated protein kinase alpha 2 catalytic 482 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(4)|ovary(1)|stomach(1) 6 CAGAGATCTGGTTCCTCAACA 0.428 71 237 --- --- --- --- PASS EFCAB7 84455 broad.mit.edu 37 1 64027381 64027381 + Missense_Mutation SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:64027381G>C uc001dbf.2 + 11 1644 c.1350G>C c.(1348-1350)GAG>GAC p.E450D NM_032437 NP_115813 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 450 calcium ion binding 0 TTTAAACAGAGAATTTTGATA 0.224 39 73 --- --- --- --- PASS LRRIQ3 127255 broad.mit.edu 37 1 74540356 74540356 + Missense_Mutation SNP A T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:74540356A>T uc001dfy.3 - 6 1178 c.986T>A c.(985-987)CTC>CAC p.L329H LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 329 ovary(2) 2 TTTTTGAATGAGATGTCTTGA 0.239 8 2 --- --- --- --- PASS FPGT 8790 broad.mit.edu 37 1 74670658 74670658 + Silent SNP A G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:74670658A>G uc001dgb.1 + 4 964 c.927A>G c.(925-927)GGA>GGG p.G309G TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron NM_003838 NP_003829 O14772 FPGT_HUMAN fucose-1-phosphate guanyltransferase 309 fucose metabolic process cytoplasm fucose-1-phosphate guanylyltransferase activity|GTP binding skin(1) 1 AGGCTTTGGGACCTGGAGCAA 0.383 41 133 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75037587 75037587 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:75037587C>A uc001dgg.2 - 14 4026 c.3807G>T c.(3805-3807)AGG>AGT p.R1269S NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1269 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CTTCCTGGGTCCTTAGCACGA 0.572 180 147 --- --- --- --- PASS GFI1 2672 broad.mit.edu 37 1 92941612 92941612 + Missense_Mutation SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:92941612G>A uc001dou.3 - 7 1407 c.1243C>T c.(1243-1245)CGG>TGG p.R415W GFI1_uc001dov.3_Missense_Mutation_p.R415W|GFI1_uc001dow.3_Missense_Mutation_p.R415W NM_001127215 NP_001120687 Q99684 GFI1_HUMAN growth factor independent 1 415 C2H2-type 6. negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(1) 1 all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203) OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191) TGCGTCTCCCGGTGCCTTCGG 0.607 11 30 --- --- --- --- PASS OVGP1 5016 broad.mit.edu 37 1 111957655 111957655 + Nonsense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:111957655C>A uc001eba.2 - 11 1524 c.1468G>T c.(1468-1470)GGA>TGA p.G490* OVGP1_uc001eaz.2_Nonsense_Mutation_p.G452*|OVGP1_uc010owb.1_Nonsense_Mutation_p.G138* NM_002557 NP_002548 Q12889 OVGP1_HUMAN oviductal glycoprotein 1 precursor 490 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity ovary(4)|large_intestine(1) 5 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) GCCTTCTCTCCAGGGGTCATG 0.532 55 124 --- --- --- --- PASS SPAG17 200162 broad.mit.edu 37 1 118635849 118635849 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:118635849C>A uc001ehk.2 - 8 1171 c.1103G>T c.(1102-1104)AGC>ATC p.S368I NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 368 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) AAGCTGCATGCTTTCCAAATA 0.418 35 68 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144915519 144915519 + Nonsense_Mutation SNP T A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:144915519T>A uc001elw.3 - 14 2197 c.1906A>T c.(1906-1908)AAA>TAA p.K636* NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Nonsense_Mutation_p.K702*|PDE4DIP_uc001emc.1_Nonsense_Mutation_p.K636*|PDE4DIP_uc001emd.1_Nonsense_Mutation_p.K636*|PDE4DIP_uc001emb.1_Nonsense_Mutation_p.K799*|PDE4DIP_uc001eme.1_Nonsense_Mutation_p.K165*|PDE4DIP_uc001emf.1_Nonsense_Mutation_p.K421* NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 636 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AGCACTTGTTTATTTCGATCA 0.493 T PDGFRB MPD 73 654 --- --- --- --- PASS NOTCH2NL 388677 broad.mit.edu 37 1 145281550 145281550 + Silent SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:145281550C>T uc001emn.3 + 4 850 c.480C>T c.(478-480)CTC>CTT p.L160L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Silent_p.L160L|NOTCH2NL_uc001emo.2_Silent_p.L160L|NOTCH2NL_uc010oyh.1_RNA NM_203458 NP_982283 Q7Z3S9 NT2NL_HUMAN Notch homolog 2 N-terminal like protein 160 EGF-like 5; calcium-binding (Potential). cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding ovary(1) 1 GCACCTGCCTCAACCTGCCTG 0.562 56 435 --- --- --- --- PASS TARS2 80222 broad.mit.edu 37 1 150477403 150477403 + Silent SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:150477403C>T uc001euq.2 + 16 1849 c.1842C>T c.(1840-1842)TTC>TTT p.F614F TARS2_uc001eur.2_Silent_p.F532F|TARS2_uc009wlt.2_Silent_p.F240F|TARS2_uc009wls.2_Silent_p.F484F NM_025150 NP_079426 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial 614 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity ovary(1) 1 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) TGTCCCCGTTCCAGGTGGTGG 0.547 22 147 --- --- --- --- PASS TDRKH 11022 broad.mit.edu 37 1 151752598 151752598 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:151752598C>A uc009wnb.1 - 4 432 c.250G>T c.(250-252)GCT>TCT p.A84S TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.3_Missense_Mutation_p.A80S|TDRKH_uc001ezc.3_Missense_Mutation_p.A84S|TDRKH_uc001eza.3_Missense_Mutation_p.A84S|TDRKH_uc001ezd.3_Missense_Mutation_p.A84S|TDRKH_uc010pdn.1_5'UTR NM_006862 NP_006853 Q9Y2W6 TDRKH_HUMAN tudor and KH domain containing isoform a 84 KH 1. RNA binding ovary(1)|pancreas(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TCAATCCGAGCACCTGTCTGT 0.493 182 149 --- --- --- --- PASS PRCC 5546 broad.mit.edu 37 1 156756874 156756874 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:156756874G>T uc001fqa.2 + 3 1281 c.991G>T c.(991-993)GGG>TGG p.G331W PRCC_uc001fqb.2_Missense_Mutation_p.G331W NM_005973 NP_005964 Q92733 PRCC_HUMAN papillary renal cell carcinoma 331 cell cycle|mitotic cell cycle checkpoint nucleus protein binding PRCC/TFE3(25) kidney(25)|central_nervous_system(2) 27 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AGGTTCAAGTGGGGCCCCTTG 0.562 T TFE3 papillary renal 465 372 --- --- --- --- PASS FCRL3 115352 broad.mit.edu 37 1 157659610 157659610 + Silent SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:157659610G>A uc001frb.2 - 10 2080 c.1788C>T c.(1786-1788)TAC>TAT p.Y596Y FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.Y596Y|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Silent_p.Y322Y|FCRL3_uc001frc.1_Silent_p.Y596Y NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 596 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) GGGCCCTGGCGTAATGCAGCA 0.537 56 114 --- --- --- --- PASS KCNT2 343450 broad.mit.edu 37 1 196459055 196459055 + Missense_Mutation SNP C G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:196459055C>G uc001gtd.1 - 3 248 c.188G>C c.(187-189)CGC>CCC p.R63P KCNT2_uc001gte.1_Missense_Mutation_p.R63P|KCNT2_uc001gtf.1_Missense_Mutation_p.R63P|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.R63P|KCNT2_uc009wyv.1_Missense_Mutation_p.R63P NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 63 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 ATTGAACAGGCGTATCCTTAG 0.289 114 241 --- --- --- --- PASS F13B 2165 broad.mit.edu 37 1 197019841 197019841 + Missense_Mutation SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:197019841G>A uc001gtt.1 - 10 1768 c.1724C>T c.(1723-1725)CCA>CTA p.P575L NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 575 Sushi 9. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 ACACAATGGTGGTGTAGTCCA 0.328 86 95 --- --- --- --- PASS NR5A2 2494 broad.mit.edu 37 1 200017659 200017659 + Missense_Mutation SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:200017659G>A uc001gvb.2 + 5 1029 c.823G>A c.(823-825)GAC>AAC p.D275N NR5A2_uc001gvc.2_Missense_Mutation_p.D229N|NR5A2_uc009wzh.2_Missense_Mutation_p.D235N|NR5A2_uc010pph.1_Missense_Mutation_p.D203N NM_205860 NP_995582 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 275 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Prostate(682;0.19) TGAGTACCCAGACCCCTATAC 0.512 100 151 --- --- --- --- PASS IGFN1 91156 broad.mit.edu 37 1 201195001 201195001 + Silent SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:201195001G>T uc001gwc.2 + 11 2788 c.2016G>T c.(2014-2016)GGG>GGT p.G672G IGFN1_uc001gwb.2_RNA NM_178275 NP_840059 RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1; ovary(2)|pancreas(1) 3 ACGTGCCTGGGACGGTGACGG 0.687 35 41 --- --- --- --- PASS PIK3C2B 5287 broad.mit.edu 37 1 204409374 204409374 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:204409374C>A uc001haw.2 - 23 3804 c.3325G>T c.(3325-3327)GGG>TGG p.G1109W PIK3C2B_uc010pqv.1_Missense_Mutation_p.G1081W NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 1109 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) ATGTCCAGCCCCTCCTGGACC 0.607 131 122 --- --- --- --- PASS LRRN2 10446 broad.mit.edu 37 1 204587979 204587979 + Missense_Mutation SNP T C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:204587979T>C uc001hbe.1 - 3 1530 c.1142A>G c.(1141-1143)AAT>AGT p.N381S MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.N381S|LRRN2_uc009xbf.1_Missense_Mutation_p.N381S|MDM4_uc001hbc.2_Intron NM_006338 NP_006329 O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 precursor 381 Extracellular (Potential).|LRRCT. cell adhesion integral to membrane receptor activity central_nervous_system(2) 2 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) GCCCGTGGCATTGGCCCAGCG 0.672 64 85 --- --- --- --- PASS RCOR3 55758 broad.mit.edu 37 1 211452590 211452590 + Missense_Mutation SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:211452590G>C uc001hig.2 + 6 647 c.478G>C c.(478-480)GTA>CTA p.V160L RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.V218L|RCOR3_uc010psw.1_Missense_Mutation_p.V218L|RCOR3_uc001hif.2_Missense_Mutation_p.V218L NM_018254 NP_060724 Q9P2K3 RCOR3_HUMAN REST corepressor 3 isoform d 160 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171) TGATGATGATGTAGAAGAAAC 0.249 66 147 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215844328 215844328 + Missense_Mutation SNP C G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:215844328C>G uc001hku.1 - 64 14506 c.14119G>C c.(14119-14121)GAG>CAG p.E4707Q NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4707 Fibronectin type-III 32.|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) TACTCATACTCTGTGAAAGGC 0.383 HNSCC(13;0.011) 109 468 --- --- --- --- PASS LYST 1130 broad.mit.edu 37 1 235969541 235969541 + Silent SNP A T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:235969541A>T uc001hxj.2 - 6 3070 c.2895T>A c.(2893-2895)TCT>TCA p.S965S LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.S965S NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 965 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AACGACACATAGACCAAATGT 0.423 Chediak-Higashi_syndrome 208 187 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237711812 237711812 + Silent SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:237711812G>A uc001hyl.1 + 26 3108 c.2988G>A c.(2986-2988)GTG>GTA p.V996V NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 996 Cytoplasmic (By similarity).|2.|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AAGCAATGGTGGACAAGTTGG 0.488 70 44 --- --- --- --- PASS CNST 163882 broad.mit.edu 37 1 246797278 246797278 + Silent SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:246797278G>A uc001ibp.2 + 5 1047 c.669G>A c.(667-669)TTG>TTA p.L223L CNST_uc001ibo.3_Silent_p.L223L NM_152609 NP_689822 Q6PJW8 CNST_HUMAN hypothetical protein LOC163882 isoform 1 223 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding 0 ATGAGCAATTGCTCGCAAATC 0.343 89 83 --- --- --- --- PASS OR2G3 81469 broad.mit.edu 37 1 247769302 247769302 + Silent SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:247769302C>A uc010pyz.1 + 1 415 c.415C>A c.(415-417)CGG>AGG p.R139R NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 139 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CATGAACCCACGGCTTTGCCA 0.512 211 353 --- --- --- --- PASS OR11L1 391189 broad.mit.edu 37 1 248004491 248004491 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:248004491C>A uc001idn.1 - 1 708 c.708G>T c.(706-708)AAG>AAT p.K236N NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 236 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGGAAAAGGTCTTTCTCCGGC 0.502 81 149 --- --- --- --- PASS OR11L1 391189 broad.mit.edu 37 1 248004498 248004498 + Missense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:248004498C>T uc001idn.1 - 1 701 c.701G>A c.(700-702)CGG>CAG p.R234Q NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 234 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGTCTTTCTCCGGCCAGAGGT 0.502 140 107 --- --- --- --- PASS OR2M5 127059 broad.mit.edu 37 1 248308605 248308605 + Missense_Mutation SNP C G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:248308605C>G uc010pze.1 + 1 156 c.156C>G c.(154-156)GAC>GAG p.D52E NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 52 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) TCTACCTGGACACCCAGCTCC 0.527 268 577 --- --- --- --- PASS OR2T4 127074 broad.mit.edu 37 1 248525260 248525260 + Silent SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:248525260C>T uc001ieh.1 + 1 378 c.378C>T c.(376-378)GCC>GCT p.A126A NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 126 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGATCTCAGCCCCTGAGTGTG 0.498 417 318 --- --- --- --- PASS OR2G6 391211 broad.mit.edu 37 1 248685489 248685489 + Missense_Mutation SNP T C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:248685489T>C uc001ien.1 + 1 542 c.542T>C c.(541-543)GTG>GCG p.V181A NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 181 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTCTGTGAGGTGCCAGTGCTC 0.522 127 84 --- --- --- --- PASS RSAD2 91543 broad.mit.edu 37 2 7036064 7036064 + Silent SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:7036064G>C uc002qyp.1 + 6 1213 c.1077G>C c.(1075-1077)CTG>CTC p.L359L NM_080657 NP_542388 Q8WXG1 RSAD2_HUMAN radical S-adenosyl methionine domain containing 359 defense response to virus endoplasmic reticulum membrane|Golgi apparatus catalytic activity|iron-sulfur cluster binding|metal ion binding 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) OV - Ovarian serous cystadenocarcinoma(76;0.191) ATCTGAAGCTGGATTGGTAGA 0.423 66 88 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21225147 21225147 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:21225147C>A uc002red.2 - 29 13275 c.13147G>T c.(13147-13149)GCC>TCC p.A4383S NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 4383 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCACGAAGGGCCATAATGTAT 0.353 4 170 --- --- --- --- PASS CAD 790 broad.mit.edu 37 2 27465570 27465570 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:27465570G>T uc002rji.2 + 41 6467 c.6305G>T c.(6304-6306)CGC>CTC p.R2102L CAD_uc010eyw.2_Missense_Mutation_p.R2039L NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 2102 ATCase (Aspartate transcarbamylase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GTCAGCCTGCGCTACGTGGCA 0.637 47 34 --- --- --- --- PASS LCLAT1 253558 broad.mit.edu 37 2 30863187 30863187 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:30863187G>T uc002rnj.2 + 7 1156 c.947G>T c.(946-948)CGT>CTT p.R316L LCLAT1_uc010ymp.1_Missense_Mutation_p.R154L|LCLAT1_uc002rnl.2_Missense_Mutation_p.R278L|LCLAT1_uc010ymq.1_Missense_Mutation_p.R278L NM_182551 NP_872357 Q6UWP7 LCLT1_HUMAN lysocardiolipin acyltransferase 1 isoform 1 316 multicellular organismal development|phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity ovary(2) 2 GAGAGGCTGCGTTCCTTCTAT 0.488 95 97 --- --- --- --- PASS RASGRP3 25780 broad.mit.edu 37 2 33745744 33745744 + Missense_Mutation SNP T C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:33745744T>C uc002rox.2 + 7 988 c.361T>C c.(361-363)TCC>CCC p.S121P RASGRP3_uc010ync.1_Missense_Mutation_p.S121P|RASGRP3_uc002roy.2_Missense_Mutation_p.S121P NM_170672 NP_733772 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and 121 N-terminal Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity lung(3)|ovary(1)|pancreas(1) 5 all_hematologic(175;0.115) CATCGACATATCCAGCATGTA 0.453 88 223 --- --- --- --- PASS SLC8A1 6546 broad.mit.edu 37 2 40656773 40656773 + Silent SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:40656773G>T uc002rrx.2 - 1 672 c.648C>A c.(646-648)ACC>ACA p.T216T SLC8A1_uc002rry.2_Silent_p.T216T|SLC8A1_uc002rrz.2_Silent_p.T216T|SLC8A1_uc002rsa.2_Silent_p.T216T|SLC8A1_uc002rsd.3_Silent_p.T216T|SLC8A1_uc002rsb.1_Silent_p.T216T|SLC8A1_uc010fan.1_Silent_p.T216T|SLC8A1_uc002rsc.1_Silent_p.T216T NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 216 Helical; (Potential). 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) TGTAAAGCCAGGTGTAGGCAA 0.453 39 92 --- --- --- --- PASS ZFP36L2 678 broad.mit.edu 37 2 43452044 43452044 + Missense_Mutation SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:43452044G>C uc002rsv.3 - 2 1190 c.899C>G c.(898-900)TCC>TGC p.S300C LOC100129726_uc010ynx.1_5'Flank NM_006887 NP_008818 P47974 TISD_HUMAN zinc finger protein 36, C3H type-like 2 300 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) ggcggaggaggagcaggacga 0.607 6 8 --- --- --- --- PASS TIA1 7072 broad.mit.edu 37 2 70443373 70443373 + Missense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:70443373C>T uc002sgj.3 - 10 948 c.731G>A c.(730-732)CGA>CAA p.R244Q TIA1_uc002sgk.3_Missense_Mutation_p.R233Q|TIA1_uc002sgl.3_RNA NM_022173 NP_071505 P31483 TIA1_HUMAN TIA1 cytotoxic granule-associated RNA binding 244 RRM 3. apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|poly(A) RNA binding|protein binding 0 TGGAAAGACTCGAATTTCCAT 0.289 20 25 --- --- --- --- PASS EXOC6B 23233 broad.mit.edu 37 2 72719551 72719551 + Nonsense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:72719551C>A uc010fep.2 - 16 1699 c.1561G>T c.(1561-1563)GAA>TAA p.E521* EXOC6B_uc002sij.2_Nonsense_Mutation_p.E521* NM_015189 NP_056004 Q9Y2D4 EXC6B_HUMAN SEC15-like 2 521 protein transport|vesicle docking involved in exocytosis exocyst central_nervous_system(2) 2 TCATCAACTTCAGTTGAGCTG 0.388 93 177 --- --- --- --- PASS BOLA3 388962 broad.mit.edu 37 2 74372367 74372367 + Missense_Mutation SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:74372367G>C uc002skc.1 - 2 156 c.118C>G c.(118-120)CTC>GTC p.L40V BOLA3_uc002skd.1_Missense_Mutation_p.L40V|uc002ske.2_5'Flank|uc002skf.2_5'Flank|uc002skg.2_5'Flank NM_212552 NP_997717 Q53S33 BOLA3_HUMAN bolA-like 3 isoform 1 40 extracellular region 0 TTTTCTTTGAGAATTTGGGTC 0.483 51 127 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90249302 90249302 + RNA SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:90249302C>A uc010fhm.2 + 28 c.3845C>A Parts of antibodies, mostly variable regions. GGTTCAGCGGCAGTGGATCTG 0.468 131 26 --- --- --- --- PASS TEKT4 150483 broad.mit.edu 37 2 95540614 95540614 + Silent SNP G A A rs111598357 TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:95540614G>A uc002stw.1 + 4 900 c.807G>A c.(805-807)CTG>CTA p.L269L uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA NM_144705 NP_653306 Q8WW24 TEKT4_HUMAN tektin 4 269 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|breast(1)|skin(1) 3 TGCGGGTGCTGGTGGACTGCA 0.716 13 34 --- --- --- --- PASS ITPRIPL1 150771 broad.mit.edu 37 2 96993075 96993075 + Missense_Mutation SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:96993075G>C uc002svx.2 + 3 1041 c.706G>C c.(706-708)GAT>CAT p.D236H ITPRIPL1_uc010yuk.1_Missense_Mutation_p.D228H|ITPRIPL1_uc002svy.2_Missense_Mutation_p.D244H|ITPRIPL1_uc010yul.1_Missense_Mutation_p.D228H NM_001008949 NP_001008949 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-triphosphate receptor interacting 236 Cytoplasmic (Potential). integral to membrane central_nervous_system(2)|ovary(1) 3 CCAGAAATTTGATATCCTGGT 0.607 32 241 --- --- --- --- PASS ITPRIPL1 150771 broad.mit.edu 37 2 96993224 96993224 + Silent SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:96993224G>C uc002svx.2 + 3 1190 c.855G>C c.(853-855)CTG>CTC p.L285L ITPRIPL1_uc010yuk.1_Silent_p.L277L|ITPRIPL1_uc002svy.2_Silent_p.L293L|ITPRIPL1_uc010yul.1_Silent_p.L277L NM_001008949 NP_001008949 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-triphosphate receptor interacting 285 Cytoplasmic (Potential). integral to membrane central_nervous_system(2)|ovary(1) 3 TGCTGTGCCTGGTGCACCACC 0.612 14 103 --- --- --- --- PASS ITPRIPL1 150771 broad.mit.edu 37 2 96993431 96993431 + Silent SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:96993431G>T uc002svx.2 + 3 1397 c.1062G>T c.(1060-1062)CTG>CTT p.L354L ITPRIPL1_uc010yuk.1_Silent_p.L346L|ITPRIPL1_uc002svy.2_Silent_p.L362L|ITPRIPL1_uc010yul.1_Silent_p.L346L NM_001008949 NP_001008949 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-triphosphate receptor interacting 354 Cytoplasmic (Potential). integral to membrane central_nervous_system(2)|ovary(1) 3 AGCTCCGGCTGGACTATCGCT 0.577 44 376 --- --- --- --- PASS MYO7B 4648 broad.mit.edu 37 2 128389944 128389944 + Silent SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:128389944C>A uc002top.2 + 38 5348 c.5295C>A c.(5293-5295)CCC>CCA p.P1765P MYO7B_uc002tos.1_5'Flank|MYO7B_uc002tot.2_5'Flank NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 1765 MyTH4 2. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) TGCTGGCCCCCGACTGCAGCC 0.677 23 22 --- --- --- --- PASS GPR148 344561 broad.mit.edu 37 2 131487618 131487618 + Silent SNP A G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:131487618A>G uc002trv.1 + 1 896 c.894A>G c.(892-894)ACA>ACG p.T298T NM_207364 NP_997247 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 298 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 Colorectal(110;0.1) GGACTCACACATGGCTCCTGG 0.567 47 161 --- --- --- --- PASS ZRANB3 84083 broad.mit.edu 37 2 135988217 135988217 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:135988217C>A uc002tum.2 - 13 1937 c.1820G>T c.(1819-1821)AGT>ATT p.S607I ZRANB3_uc002tuk.2_Missense_Mutation_p.S150I|ZRANB3_uc002tul.2_Missense_Mutation_p.S607I NM_032143 NP_115519 Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 607 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.135) CTCCTGTACACTTTCCACGAG 0.498 75 178 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 140995827 140995827 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:140995827C>A uc002tvj.1 - 89 14426 c.13454G>T c.(13453-13455)GGA>GTA p.G4485V NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4485 Cytoplasmic (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TACATTTATTCCTCCATTGAT 0.318 TSP Lung(27;0.18) 35 90 --- --- --- --- PASS ITGB6 3694 broad.mit.edu 37 2 161052922 161052922 + Missense_Mutation SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:161052922G>A uc002ubh.2 - 3 167 c.151C>T c.(151-153)CAT>TAT p.H51Y ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Missense_Mutation_p.H51Y|ITGB6_uc010zcq.1_Missense_Mutation_p.H9Y|ITGB6_uc010fov.1_Missense_Mutation_p.H51Y NM_000888 NP_000879 P18564 ITB6_HUMAN integrin, beta 6 precursor 51 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity ovary(1)|lung(1)|skin(1) 3 CCAGATGGATGAGTAAAATTC 0.333 258 189 --- --- --- --- PASS TBR1 10716 broad.mit.edu 37 2 162273453 162273453 + Nonsense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:162273453C>T uc002ubw.1 + 1 834 c.532C>T c.(532-534)CAG>TAG p.Q178* TBR1_uc010foy.2_5'Flank NM_006593 NP_006584 Q16650 TBR1_HUMAN T-box, brain, 1 178 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 CCCCTACCCACAGCAGTACGG 0.637 38 79 --- --- --- --- PASS SLC4A10 57282 broad.mit.edu 37 2 162799319 162799319 + Missense_Mutation SNP C G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:162799319C>G uc002ubx.3 + 16 2199 c.2015C>G c.(2014-2016)CCG>CGG p.P672R SLC4A10_uc002uby.3_Missense_Mutation_p.P642R|SLC4A10_uc010zcs.1_Missense_Mutation_p.P653R NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 672 Extracellular (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 TGTGTGGAACCGCATAATCCC 0.393 14 13 --- --- --- --- PASS GRB14 2888 broad.mit.edu 37 2 165365270 165365270 + Missense_Mutation SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:165365270G>C uc002ucl.2 - 7 1450 c.909C>G c.(907-909)AAC>AAG p.N303K GRB14_uc010zcv.1_Missense_Mutation_p.N216K|GRB14_uc002ucm.2_RNA NM_004490 NP_004481 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 303 PH. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity ovary(5)|upper_aerodigestive_tract(1)|lung(1) 7 AGAATCCATAGTTAGTCGGTG 0.373 76 168 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 167760191 167760191 + Missense_Mutation SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:167760191G>A uc002udx.2 + 1 217 c.199G>A c.(199-201)GGG>AGG p.G67R XIRP2_uc010fpn.2_Missense_Mutation_p.G67R|XIRP2_uc010fpo.2_Missense_Mutation_p.G67R|XIRP2_uc010fpp.2_Missense_Mutation_p.G67R NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 Error:Variant_position_missing_in_A4UGR9_after_alignment actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CTACAGTACAGGGGAAGAGAT 0.493 57 50 --- --- --- --- PASS HOXD3 3232 broad.mit.edu 37 2 177033999 177033999 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:177033999C>A uc002ukt.1 + 2 333 c.157C>A c.(157-159)CCT>ACT p.P53T NM_006898 NP_008829 P31249 HXD3_HUMAN homeobox D3 53 anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) CTACCCACCCCCTGCTGCTGC 0.587 33 46 --- --- --- --- PASS NFE2L2 4780 broad.mit.edu 37 2 178098968 178098968 + Missense_Mutation SNP T A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:178098968T>A uc002ulh.3 - 2 632 c.77A>T c.(76-78)CAA>CTA p.Q26L NFE2L2_uc002ulg.3_Missense_Mutation_p.Q10L|NFE2L2_uc010zfa.1_Missense_Mutation_p.Q10L|NFE2L2_uc002uli.3_Missense_Mutation_p.Q10L|NFE2L2_uc010fra.2_Missense_Mutation_p.Q10L|NFE2L2_uc010frb.2_Missense_Mutation_p.Q10L NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 26 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) ATCTATATCTTGCCTCCAAAG 0.348 Mis NSCLC|HNSCC HNSCC(56;0.16) 29 61 --- --- --- --- PASS FKBP7 51661 broad.mit.edu 37 2 179334381 179334381 + Missense_Mutation SNP C G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:179334381C>G uc002umk.2 - 3 634 c.505G>C c.(505-507)GAG>CAG p.E169Q FKBP7_uc002umm.2_Missense_Mutation_p.E168Q|FKBP7_uc002uml.2_RNA|FKBP7_uc010zff.1_Intron NM_181342 NP_851939 Q9Y680 FKBP7_HUMAN FK506 binding protein 7 isoform a precursor 206 1 (Potential).|EF-hand 1. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) TGAATTACCTCGGCTTTAGAG 0.353 158 135 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179615473 179615473 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:179615473G>T uc002unb.2 - 46 11878 c.11654C>A c.(11653-11655)ACA>AAA p.T3885K TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTTACAAGTGTACCAAAAGA 0.353 42 94 --- --- --- --- PASS ANKRD44 91526 broad.mit.edu 37 2 197990703 197990703 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:197990703C>A uc002uuc.2 - 5 487 c.320G>T c.(319-321)TGG>TTG p.W107L ANKRD44_uc002uua.1_Missense_Mutation_p.W82L|ANKRD44_uc002uub.2_Missense_Mutation_p.W107L|ANKRD44_uc010zgw.1_Missense_Mutation_p.W35L NM_153697 NP_710181 Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 107 ANK 4. protein binding ovary(4)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.246) AGGGGTCTGCCAGTTCTTGTC 0.507 74 142 --- --- --- --- PASS CFLAR 8837 broad.mit.edu 37 2 202025532 202025532 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:202025532G>T uc002uxb.3 + 9 1623 c.1171G>T c.(1171-1173)GGG>TGG p.G391W CFLAR_uc010zhk.1_Missense_Mutation_p.G295W|CFLAR_uc002uxc.3_Missense_Mutation_p.G356W|CFLAR_uc010zhl.1_Missense_Mutation_p.G295W|CFLAR_uc010fsw.1_RNA|CFLAR_uc002uxd.3_Missense_Mutation_p.G391W|CFLAR_uc002uxf.2_Missense_Mutation_p.G391W|CFLAR_uc010fsy.2_RNA|CFLAR_uc010fsx.2_Intron|CFLAR_uc010zhm.1_Missense_Mutation_p.G295W|CFLAR_uc010fsz.2_Missense_Mutation_p.G146W|CFLAR_uc002uxg.2_Missense_Mutation_p.G146W NM_003879 NP_003870 O15519 CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator isoform 391 Interaction with caspase-8.|Interaction with caspase-3.|Interaction with TRAF1 and TRAF2.|Not proteolytically processed and involved in apoptosis inhibition.|Interaction with caspase-8 subunits p18 and p10. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis cysteine-type endopeptidase activity|protein binding 0 TCAGAAGCGAGGGCTGTGCAC 0.562 46 47 --- --- --- --- PASS ACCN4 55515 broad.mit.edu 37 2 220379768 220379768 + Missense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:220379768C>T uc002vma.2 + 1 717 c.703C>T c.(703-705)CCA>TCA p.P235S ACCN4_uc010fwi.1_Missense_Mutation_p.P235S|ACCN4_uc010fwj.1_Missense_Mutation_p.P235S|ACCN4_uc002vly.1_Missense_Mutation_p.P235S|ACCN4_uc002vlz.2_Missense_Mutation_p.P235S|ACCN4_uc002vmb.2_5'Flank NM_182847 NP_878267 Q96FT7 ACCN4_HUMAN amiloride-sensitive cation channel 4 isoform 2 235 Extracellular (Potential). integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity ovary(2) 2 Renal(207;0.0183) Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156) TGCCCCAGCCCCAGTGGCGGG 0.667 8 25 --- --- --- --- PASS EPHA4 2043 broad.mit.edu 37 2 222301171 222301171 + Missense_Mutation SNP A G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:222301171A>G uc002vmq.2 - 13 2336 c.2294T>C c.(2293-2295)TTT>TCT p.F765S EPHA4_uc002vmr.2_Missense_Mutation_p.F765S|EPHA4_uc010zlm.1_Missense_Mutation_p.F706S|EPHA4_uc010zln.1_Missense_Mutation_p.F765S NM_004438 NP_004429 P54764 EPHA4_HUMAN ephrin receptor EphA4 precursor 765 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1) 12 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) GGACATGCCAAAATCAGACAC 0.488 39 116 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228883485 228883485 + Missense_Mutation SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr2:228883485G>C uc002vpq.2 - 7 2132 c.2085C>G c.(2083-2085)AAC>AAG p.N695K SPHKAP_uc002vpp.2_Missense_Mutation_p.N695K|SPHKAP_uc010zlx.1_Missense_Mutation_p.N695K NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 695 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) ATGAATGCCTGTTGTCATTGG 0.393 359 240 --- --- --- --- PASS SETD5 55209 broad.mit.edu 37 3 9517717 9517717 + Missense_Mutation SNP A T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr3:9517717A>T uc003brt.2 + 23 4706 c.4271A>T c.(4270-4272)CAG>CTG p.Q1424L SETD5_uc003bru.2_Missense_Mutation_p.Q1326L|SETD5_uc003brv.2_Missense_Mutation_p.Q1313L|SETD5_uc010hck.2_Missense_Mutation_p.Q906L|SETD5_uc003brx.2_Missense_Mutation_p.Q1093L NM_001080517 NP_001073986 Q9C0A6 SETD5_HUMAN SET domain containing 5 1424 ovary(2) 2 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) GGTGTGCACCAGTACCGACTC 0.577 29 3 --- --- --- --- PASS TOP2B 7155 broad.mit.edu 37 3 25648771 25648771 + Missense_Mutation SNP C G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr3:25648771C>G uc003cdj.2 - 31 4174 c.4174G>C c.(4174-4176)GTT>CTT p.V1392L TOP2B_uc011awm.1_Missense_Mutation_p.V249L|TOP2B_uc010hff.1_Missense_Mutation_p.V258L NM_001068 NP_001059 Q02880 TOP2B_HUMAN DNA topoisomerase II, beta isozyme 1397 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 GATGCTTTAACTTTCAATTCC 0.289 15 2 --- --- --- --- PASS VILL 50853 broad.mit.edu 37 3 38044024 38044024 + Missense_Mutation SNP C G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr3:38044024C>G uc003chj.2 + 14 1903 c.1617C>G c.(1615-1617)TTC>TTG p.F539L VILL_uc003chl.2_Missense_Mutation_p.F539L NM_015873 NP_056957 O15195 VILL_HUMAN villin-like protein 539 Gelsolin-like 5. actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton 0 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) GTGACATCTTCTTGCTGGTCA 0.577 54 73 --- --- --- --- PASS C3orf39 84892 broad.mit.edu 37 3 43121436 43121436 + Silent SNP G T T rs35207939 byFrequency TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr3:43121436G>T uc003cmq.1 - 2 1629 c.1488C>A c.(1486-1488)GGC>GGA p.G496G C3orf39_uc003cmr.1_Silent_p.G496G NM_032806 NP_116195 Q8NAT1 AGO61_HUMAN glycosyltransferase precursor 496 extracellular region transferase activity, transferring glycosyl groups ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718) CCTCGGAGGCGCCATGCACTG 0.632 26 42 --- --- --- --- PASS CCR1 1230 broad.mit.edu 37 3 46244914 46244914 + Silent SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr3:46244914G>A uc003cph.1 - 2 962 c.891C>T c.(889-891)AAC>AAT p.N297N CCR3_uc003cpg.1_Intron NM_001295 NP_001286 P32246 CCR1_HUMAN chemokine (C-C motif) receptor 1 297 Helical; Name=7; (Potential). cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity skin(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) AGATCACTGGGTTGACACAGC 0.562 62 16 --- --- --- --- PASS MST1 4485 broad.mit.edu 37 3 49723334 49723334 + Silent SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr3:49723334G>A uc003cxg.2 - 10 1281 c.1209C>T c.(1207-1209)GTC>GTT p.V403V MST1_uc011bcs.1_Missense_Mutation_p.S442F NM_020998 NP_066278 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth 389 Kringle 4. proteolysis extracellular region serine-type endopeptidase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCTGGCACTGGACACCCTTGC 0.711 19 152 --- --- --- --- PASS HYAL1 3373 broad.mit.edu 37 3 50339528 50339528 + Missense_Mutation SNP A T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr3:50339528A>T uc003czp.2 - 2 992 c.860T>A c.(859-861)GTC>GAC p.V287D HYAL3_uc003czd.1_5'Flank|HYAL3_uc003cze.1_5'Flank|HYAL3_uc003czf.1_5'Flank|HYAL3_uc003czg.1_5'Flank|NAT6_uc003czj.2_5'Flank|NAT6_uc003czk.3_5'Flank|NAT6_uc003czl.1_5'Flank|HYAL1_uc003czm.2_Missense_Mutation_p.V105D|HYAL1_uc003czo.2_Missense_Mutation_p.V28D|HYAL1_uc003czq.2_Missense_Mutation_p.V287D|HYAL1_uc003czr.2_Missense_Mutation_p.V287D|HYAL1_uc003czn.2_Intron|HYAL1_uc003czs.2_Missense_Mutation_p.V287D|HYAL1_uc003czt.2_Missense_Mutation_p.V287D NM_033159 NP_149349 Q12794 HYAL1_HUMAN hyaluronoglucosaminidase 1 isoform 1 287 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) GAAGATCTGGACATAGGGCAG 0.557 65 11 --- --- --- --- PASS PLA1A 51365 broad.mit.edu 37 3 119325702 119325702 + Missense_Mutation SNP A C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr3:119325702A>C uc003ecu.2 + 2 194 c.155A>C c.(154-156)CAG>CCG p.Q52P PLA1A_uc003ecv.2_Missense_Mutation_p.Q52P|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Intron NM_015900 NP_056984 Q53H76 PLA1A_HUMAN phospholipase A1 member A precursor 52 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 CTCAAAGTCCAGTTTCTCCTC 0.512 138 696 --- --- --- --- PASS PARP15 165631 broad.mit.edu 37 3 122354719 122354719 + Silent SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr3:122354719C>A uc003efm.2 + 12 1875 c.1809C>A c.(1807-1809)ACC>ACA p.T603T PARP15_uc003efn.2_Silent_p.T408T|PARP15_uc003efo.1_Silent_p.T350T|PARP15_uc003efp.1_Silent_p.T369T|PARP15_uc011bjt.1_Silent_p.T300T NM_001113523 NP_001106995 Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 581 PARP catalytic. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity lung(3)|upper_aerodigestive_tract(1)|ovary(1) 5 GBM - Glioblastoma multiforme(114;0.0531) CCAAGGACACCTACTCCAAGC 0.453 133 253 --- --- --- --- PASS HEG1 57493 broad.mit.edu 37 3 124720847 124720847 + Silent SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr3:124720847G>A uc003ehs.3 - 11 3434 c.3366C>T c.(3364-3366)AAC>AAT p.N1122N HEG1_uc003ehr.3_Translation_Start_Site|HEG1_uc011bke.1_Silent_p.N1222N NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor 1122 Extracellular (Potential). extracellular region|integral to membrane calcium ion binding ovary(2) 2 TCACCACCGCGTTGGACTCCC 0.483 30 110 --- --- --- --- PASS GP9 2815 broad.mit.edu 37 3 128780998 128780998 + Missense_Mutation SNP T A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr3:128780998T>A uc003elm.2 + 3 603 c.416T>A c.(415-417)CTG>CAG p.L139Q NM_000174 NP_000165 P14770 GPIX_HUMAN glycoprotein IX (platelet) precursor 139 Extracellular (Potential). blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane protein binding 0 Quinine(DB00468) GGCTGGCAGCTGCAGGCGTCC 0.741 3 8 --- --- --- --- PASS IFT122 55764 broad.mit.edu 37 3 129225321 129225321 + Missense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr3:129225321C>T uc003emm.2 + 22 2926 c.2720C>T c.(2719-2721)GCG>GTG p.A907V IFT122_uc003eml.2_Missense_Mutation_p.A958V|IFT122_uc003emn.2_Missense_Mutation_p.A848V|IFT122_uc003emo.2_Missense_Mutation_p.A796V|IFT122_uc003emp.2_Missense_Mutation_p.A757V|IFT122_uc010htc.2_Missense_Mutation_p.A899V|IFT122_uc011bky.1_Missense_Mutation_p.A698V|IFT122_uc003emq.2_Missense_Mutation_p.A747V|IFT122_uc003emr.2_Missense_Mutation_p.A659V|IFT122_uc011bla.1_Missense_Mutation_p.A680V|IFT122_uc010hte.2_Missense_Mutation_p.A233V|IFT122_uc003ems.2_Missense_Mutation_p.A288V|IFT122_uc011bkx.1_Missense_Mutation_p.A747V|IFT122_uc010htd.1_Missense_Mutation_p.A386V NM_052989 NP_443715 Q9HBG6 IF122_HUMAN WD repeat domain 10 isoform 2 907 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium ovary(1)|skin(1) 2 AATGCCGTGGCGGAGAGCAGG 0.522 13 585 --- --- --- --- PASS DZIP1L 199221 broad.mit.edu 37 3 137816615 137816615 + Silent SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr3:137816615C>T uc003erq.2 - 3 939 c.576G>A c.(574-576)GTG>GTA p.V192V DZIP1L_uc003err.1_Silent_p.V192V NM_173543 NP_775814 Q8IYY4 DZI1L_HUMAN DAZ interacting protein 1-like 192 intracellular zinc ion binding ovary(1)|pancreas(1) 2 caccttctgccacgcctgcat 0.418 OREG0015831 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 38 --- --- --- --- PASS TRIM42 287015 broad.mit.edu 37 3 140406900 140406900 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr3:140406900C>A uc003eto.1 + 3 1567 c.1376C>A c.(1375-1377)ACC>AAC p.T459N NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 459 COS. intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 GGCATCCAGACCACCTACAGG 0.572 57 122 --- --- --- --- PASS CLDN11 5010 broad.mit.edu 37 3 170150353 170150353 + Missense_Mutation SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr3:170150353G>A uc003fgx.2 + 3 635 c.433G>A c.(433-435)GCC>ACC p.A145T CLDN11_uc011bpt.1_Intron|CLDN11_uc003fgy.2_Missense_Mutation_p.A61T NM_005602 NP_005593 O75508 CLD11_HUMAN claudin 11 145 Extracellular (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity central_nervous_system(1) 1 all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) CCCTGTGTGCGCCCACCGTGA 0.607 146 466 --- --- --- --- PASS SLC2A2 6514 broad.mit.edu 37 3 170744448 170744448 + Silent SNP A G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr3:170744448A>G uc003fhe.1 - 1 321 c.12T>C c.(10-12)GAT>GAC p.D4D SLC2A2_uc003fhf.1_5'UTR|SLC2A2_uc011bpu.1_5'UTR NM_000340 NP_000331 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose 4 Cytoplasmic (Potential). carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) GCTTTACCTTATCTTCTGTCA 0.448 363 428 --- --- --- --- PASS FNDC3B 64778 broad.mit.edu 37 3 171969199 171969199 + Missense_Mutation SNP A G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr3:171969199A>G uc003fhy.2 + 6 830 c.658A>G c.(658-660)ACA>GCA p.T220A FNDC3B_uc003fhz.3_Missense_Mutation_p.T220A|FNDC3B_uc003fia.2_Missense_Mutation_p.T151A NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 220 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) CAGCTGCACAACAGTATACAA 0.532 104 111 --- --- --- --- PASS SPATA16 83893 broad.mit.edu 37 3 172834952 172834952 + Missense_Mutation SNP C G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr3:172834952C>G uc003fin.3 - 2 728 c.570G>C c.(568-570)AAG>AAC p.K190N NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 190 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding ovary(2)|skin(1) 3 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) AGGCGTATTTCTTTTGTCTAT 0.408 174 704 --- --- --- --- PASS MRPL47 57129 broad.mit.edu 37 3 179311590 179311590 + Missense_Mutation SNP C G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr3:179311590C>G uc003fjz.2 - 5 518 c.496G>C c.(496-498)GGT>CGT p.G166R MRPL47_uc003fka.2_Missense_Mutation_p.G56R|MRPL47_uc003fkb.2_Missense_Mutation_p.G146R NM_020409 NP_065142 Q9HD33 RM47_HUMAN mitochondrial ribosomal protein L47 isoform a 166 translation mitochondrial ribosome structural constituent of ribosome 0 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) CTCCAAGCACCAGGTCTAGCT 0.438 43 346 --- --- --- --- PASS LAMP3 27074 broad.mit.edu 37 3 182841929 182841929 + Missense_Mutation SNP C A A rs113287351 TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr3:182841929C>A uc003flh.3 - 6 1415 c.1191G>T c.(1189-1191)ATG>ATT p.M397I NM_014398 NP_055213 Q9UQV4 LAMP3_HUMAN lysosomal-associated membrane protein 3 397 Helical; (Potential). cell proliferation integral to membrane|lysosomal membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) CACCCATACCCATAAGGCAGA 0.433 154 298 --- --- --- --- PASS AP2M1 1173 broad.mit.edu 37 3 183899529 183899529 + Silent SNP T C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr3:183899529T>C uc011bqx.1 + 8 910 c.753T>C c.(751-753)TGT>TGC p.C251C AP2M1_uc003fmw.2_Silent_p.C249C|AP2M1_uc003fmx.2_Silent_p.C179C|AP2M1_uc003fmy.2_Silent_p.C249C|AP2M1_uc011bqy.1_Silent_p.C121C|AP2M1_uc011bqz.1_Silent_p.C67C NM_004068 NP_004059 Q96CW1 AP2M1_HUMAN adaptor-related protein complex 2, mu 1 subunit 251 MHD. axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane lipid binding|protein binding|transporter activity 0 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCCACCAGTGTGTGCGACTCA 0.527 14 366 --- --- --- --- PASS FAM43A 131583 broad.mit.edu 37 3 194408707 194408707 + Silent SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr3:194408707C>A uc003fuj.2 + 1 2086 c.1152C>A c.(1150-1152)GGC>GGA p.G384G NM_153690 NP_710157 Q8N2R8 FA43A_HUMAN hypothetical protein LOC131583 384 central_nervous_system(1) 1 all_cancers(143;2.04e-08)|Ovarian(172;0.0634) Lung NSC(153;0.147) OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;1.78e-05) TGCTGTCAGGCGACAGCACGG 0.711 10 26 --- --- --- --- PASS PAK2 5062 broad.mit.edu 37 3 196509561 196509561 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr3:196509561C>A uc003fwy.3 + 2 366 c.44C>A c.(43-45)CCT>CAT p.P15H NM_002577 NP_002568 Q13177 PAK2_HUMAN p21-activated kinase 2 15 axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity ovary(1)|lung(1) 2 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) CCAGCACCTCCTGTGCGAATG 0.423 11 685 --- --- --- --- PASS WFS1 7466 broad.mit.edu 37 4 6303493 6303493 + Missense_Mutation SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr4:6303493G>C uc003giy.2 + 8 2137 c.1971G>C c.(1969-1971)ATG>ATC p.M657I WFS1_uc003gix.2_Missense_Mutation_p.M657I|WFS1_uc003giz.2_Missense_Mutation_p.M475I NM_001145853 NP_001139325 O76024 WFS1_HUMAN wolframin 657 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2) 2 Colorectal(103;0.0512) CAGAGGGCATGAAGGTCTACA 0.602 12 402 --- --- --- --- PASS KLHL5 51088 broad.mit.edu 37 4 39064185 39064185 + Silent SNP A G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr4:39064185A>G uc003gts.2 + 1 126 c.51A>G c.(49-51)GCA>GCG p.A17A KLHL5_uc003gtp.2_5'UTR|KLHL5_uc003gtq.2_Intron|KLHL5_uc003gtr.1_Silent_p.A17A|KLHL5_uc003gtt.2_Silent_p.A17A NM_015990 NP_057074 Q96PQ7 KLHL5_HUMAN kelch-like 5 isoform 1 17 cytoplasm|cytoskeleton actin binding ovary(1) 1 ACAGCAGGGCATATACTTCTC 0.358 105 31 --- --- --- --- PASS LIMCH1 22998 broad.mit.edu 37 4 41640961 41640961 + Missense_Mutation SNP A T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr4:41640961A>T uc003gvu.3 + 9 1002 c.948A>T c.(946-948)AGA>AGT p.R316S LIMCH1_uc003gvv.3_Missense_Mutation_p.R316S|LIMCH1_uc003gvw.3_Missense_Mutation_p.R316S|LIMCH1_uc003gvx.3_Intron|LIMCH1_uc003gwe.3_Missense_Mutation_p.R316S|LIMCH1_uc003gvy.3_Intron|LIMCH1_uc003gwa.3_Missense_Mutation_p.R157S|LIMCH1_uc003gvz.3_Missense_Mutation_p.R701S|LIMCH1_uc011byu.1_Intron|LIMCH1_uc003gwc.3_Missense_Mutation_p.R162S|LIMCH1_uc003gwd.3_Intron|LIMCH1_uc011byv.1_Missense_Mutation_p.R67S NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 isoform a 316 actomyosin structure organization actin binding|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 ACGGTCCGAGAACTCCTGTGT 0.388 95 33 --- --- --- --- PASS GUF1 60558 broad.mit.edu 37 4 44685270 44685270 + Missense_Mutation SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr4:44685270G>A uc003gww.3 + 6 811 c.604G>A c.(604-606)GAT>AAT p.D202N GUF1_uc010ifz.1_RNA NM_021927 NP_068746 Q8N442 GUF1_HUMAN GUF1 GTPase homolog 202 translation mitochondrial inner membrane GTP binding|GTPase activity upper_aerodigestive_tract(1) 1 GAAGAATGCTGATCCTGAAAG 0.264 16 51 --- --- --- --- PASS PKD2 5311 broad.mit.edu 37 4 88996004 88996004 + Missense_Mutation SNP A G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr4:88996004A>G uc003hre.2 + 14 2629 c.2563A>G c.(2563-2565)AGC>GGC p.S855G PKD2_uc011cdf.1_Missense_Mutation_p.S273G|PKD2_uc011cdg.1_Missense_Mutation_p.S181G|PKD2_uc011cdh.1_Missense_Mutation_p.S78G NM_000297 NP_000288 Q13563 PKD2_HUMAN polycystin 2 855 Potential.|C-terminal coiled coil domain.|Cytoplasmic (Potential). basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity skin(1) 1 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) TTCCATCGGCAGCATAGTGTC 0.532 52 14 --- --- --- --- PASS ARHGEF38 54848 broad.mit.edu 37 4 106534585 106534585 + Silent SNP C G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr4:106534585C>G uc003hxu.2 + 3 575 c.429C>G c.(427-429)TCC>TCG p.S143S NM_017700 NP_060170 Q9NXL2 ARH38_HUMAN hypothetical protein LOC54848 143 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|breast(1) 3 ACATTGAGTCCGTGCATCAGA 0.433 78 104 --- --- --- --- PASS PRDM5 11107 broad.mit.edu 37 4 121702330 121702330 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr4:121702330C>A uc003idn.2 - 12 1661 c.1411G>T c.(1411-1413)GTT>TTT p.V471F PRDM5_uc003ido.2_Missense_Mutation_p.V440F|PRDM5_uc010ine.2_Missense_Mutation_p.V440F NM_018699 NP_061169 Q9NQX1 PRDM5_HUMAN PR domain containing 5 471 C2H2-type 11. histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 GAAGGTGTAACAAAGGCCTTA 0.368 106 31 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123270434 123270434 + Nonsense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr4:123270434G>T uc003ieh.2 + 76 13447 c.13402G>T c.(13402-13404)GGA>TGA p.G4468* KIAA1109_uc003iem.2_Nonsense_Mutation_p.G824* NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 4468 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 AGGAGTAGTTGGAGGGACCAT 0.393 33 60 --- --- --- --- PASS NAF1 92345 broad.mit.edu 37 4 164050110 164050110 + Missense_Mutation SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr4:164050110G>A uc003iqj.2 - 8 1618 c.1424C>T c.(1423-1425)CCA>CTA p.P475L NAF1_uc010iqw.1_Intron NM_138386 NP_612395 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 homolog isoform a 475 Pro-rich. rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding ovary(2) 2 all_hematologic(180;0.166) Prostate(90;0.109) aggcagtggtggagggggagg 0.264 12 9 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187628543 187628543 + Silent SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr4:187628543G>A uc003izf.2 - 2 2627 c.2439C>T c.(2437-2439)GTC>GTT p.V813V FAT1_uc010iso.1_Silent_p.V813V NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 813 Extracellular (Potential).|Cadherin 6. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CATTGGCATCGACAACCACGA 0.458 HNSCC(5;0.00058) 110 164 --- --- --- --- PASS PLEKHG4B 153478 broad.mit.edu 37 5 182161 182161 + Missense_Mutation SNP A T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr5:182161A>T uc003jak.2 + 18 3589 c.3539A>T c.(3538-3540)CAC>CTC p.H1180L NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 1180 Ser-rich. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) TCCTCTGACCACGCCGCCCCC 0.612 81 132 --- --- --- --- PASS SLC6A18 348932 broad.mit.edu 37 5 1232415 1232415 + Missense_Mutation SNP G T T rs148359610 TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr5:1232415G>T uc003jby.1 + 2 365 c.242G>T c.(241-243)CGG>CTG p.R81L NM_182632 NP_872438 Q96N87 S6A18_HUMAN solute carrier family 6, member 18 81 Cytoplasmic (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) ATCGGCCAGCGGCTGCGGAAG 0.667 6 7 --- --- --- --- PASS ADAMTS16 170690 broad.mit.edu 37 5 5306799 5306799 + Silent SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr5:5306799G>A uc003jdl.2 + 21 3507 c.3369G>A c.(3367-3369)GCG>GCA p.A1123A NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 1123 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 TTGCTGCTGCGGGACCCTCGA 0.662 22 38 --- --- --- --- PASS KIAA0947 23379 broad.mit.edu 37 5 5463581 5463581 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr5:5463581G>T uc003jdm.3 + 13 4356 c.4134G>T c.(4132-4134)ATG>ATT p.M1378I NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 1378 ovary(1)|central_nervous_system(1) 2 ACTCTGTGATGGAGCCATCCA 0.493 19 21 --- --- --- --- PASS KIAA0947 23379 broad.mit.edu 37 5 5463582 5463582 + Missense_Mutation SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr5:5463582G>C uc003jdm.3 + 13 4357 c.4135G>C c.(4135-4137)GAG>CAG p.E1379Q NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 1379 ovary(1)|central_nervous_system(1) 2 CTCTGTGATGGAGCCATCCAT 0.488 20 21 --- --- --- --- PASS NSUN2 54888 broad.mit.edu 37 5 6607388 6607388 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr5:6607388C>A uc003jdu.2 - 13 1498 c.1433G>T c.(1432-1434)GGA>GTA p.G478V NSUN2_uc003jds.2_5'Flank|NSUN2_uc003jdt.2_Missense_Mutation_p.G242V|NSUN2_uc011cmk.1_Missense_Mutation_p.G443V|NSUN2_uc003jdv.2_Missense_Mutation_p.G242V NM_017755 NP_060225 Q08J23 NSUN2_HUMAN NOL1/NOP2/Sun domain family, member 2 478 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding ovary(1) 1 GTCACCAGTTCCTGTGAATGA 0.458 326 403 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19591263 19591263 + Missense_Mutation SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr5:19591263G>A uc003jgc.2 - 6 1279 c.902C>T c.(901-903)GCT>GTT p.A301V CDH18_uc003jgd.2_Missense_Mutation_p.A301V|CDH18_uc011cnm.1_Missense_Mutation_p.A301V NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 301 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) GGTCATGTCAGCATTTGAGCC 0.423 148 154 --- --- --- --- PASS CDH6 1004 broad.mit.edu 37 5 31323238 31323238 + Silent SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr5:31323238C>T uc003jhe.1 + 12 2522 c.2196C>T c.(2194-2196)TAC>TAT p.Y732Y NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 732 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 CCCCGCCATACGACTCCTTGG 0.542 15 65 --- --- --- --- PASS SLC1A3 6507 broad.mit.edu 37 5 36684019 36684019 + Missense_Mutation SNP T A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr5:36684019T>A uc003jkj.3 + 9 1819 c.1343T>A c.(1342-1344)CTG>CAG p.L448Q SLC1A3_uc011cox.1_Missense_Mutation_p.L341Q|SLC1A3_uc010iuy.2_Intron NM_004172 NP_004163 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity 448 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity 0 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) CAGGCGGGCCTGGTCACTATG 0.542 83 99 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41008872 41008872 + Silent SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr5:41008872C>A uc003jmj.3 - 33 3934 c.3444G>T c.(3442-3444)GTG>GTT p.V1148V HEATR7B2_uc003jmi.3_Silent_p.V703V NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1148 HEAT 12. binding ovary(6)|central_nervous_system(2) 8 CCATTGAGATCACTTCATACA 0.527 17 56 --- --- --- --- PASS C5orf34 375444 broad.mit.edu 37 5 43506365 43506365 + Silent SNP A G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr5:43506365A>G uc003jnz.1 - 5 734 c.417T>C c.(415-417)TCT>TCC p.S139S C5orf34_uc011cpx.1_Silent_p.S25S NM_198566 NP_940968 Q96MH7 CE034_HUMAN hypothetical protein LOC375444 139 breast(1) 1 Lung NSC(6;2.07e-05) ATTCATGCTGAGATCTGGGCA 0.398 73 244 --- --- --- --- PASS EDIL3 10085 broad.mit.edu 37 5 83360518 83360518 + Splice_Site SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr5:83360518C>T uc003kio.1 - 8 1371 c.952_splice c.e8+1 p.G318_splice EDIL3_uc003kip.1_Splice_Site_p.G308_splice|EDIL3_uc011ctt.1_Splice_Site_p.G95_splice NM_005711 NP_005702 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding skin(2) 2 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) TTGAGACTTACCCGACAGTTC 0.363 62 11 --- --- --- --- PASS HSPA4 3308 broad.mit.edu 37 5 132409706 132409706 + Missense_Mutation SNP A G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr5:132409706A>G uc003kyj.2 + 6 832 c.551A>G c.(550-552)TAT>TGT p.Y184C NM_002154 NP_002145 P34932 HSP74_HUMAN heat shock 70kDa protein 4 184 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding lung(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TATGGAATCTATAAGCAGGAT 0.318 59 12 --- --- --- --- PASS FAM53C 51307 broad.mit.edu 37 5 137680859 137680859 + Missense_Mutation SNP A G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr5:137680859A>G uc003lcv.2 + 4 952 c.482A>G c.(481-483)CAG>CGG p.Q161R FAM53C_uc003lcw.2_Missense_Mutation_p.Q161R|FAM53C_uc011cyq.1_Intron|FAM53C_uc011cyr.1_Intron NM_001135647 NP_001129119 Q9NYF3 FA53C_HUMAN hypothetical protein LOC51307 161 ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GTGCCTCACCAGAGCCCCCCA 0.662 106 19 --- --- --- --- PASS ADAM19 8728 broad.mit.edu 37 5 156957872 156957872 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr5:156957872C>A uc003lwz.2 - 5 414 c.350G>T c.(349-351)GGC>GTC p.G117V ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_Missense_Mutation_p.G48V NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 117 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCTCACCGTGCCGTGGTAAAA 0.537 76 19 --- --- --- --- PASS F13A1 2162 broad.mit.edu 37 6 6318807 6318807 + Nonsense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr6:6318807C>A uc003mwv.2 - 2 214 c.91G>T c.(91-93)GAG>TAG p.E31* F13A1_uc011dib.1_Nonsense_Mutation_p.E31* NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 31 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CCCTGAAGCTCCACTGTGGGC 0.592 182 145 --- --- --- --- PASS HIST1H3I 8354 broad.mit.edu 37 6 27839938 27839938 + Silent SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr6:27839938G>A uc003njy.2 - 1 162 c.156C>T c.(154-156)ATC>ATT p.I52I NM_003533 NP_003524 P68431 H31_HUMAN histone cluster 1, H3i 52 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 GGTAGCGGCGGATCTCGCGCA 0.652 28 95 --- --- --- --- PASS TRIM26 7726 broad.mit.edu 37 6 30166457 30166457 + Missense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr6:30166457C>T uc003npr.2 - 3 633 c.424G>A c.(424-426)GCC>ACC p.A142T TRIM26_uc003nps.2_Missense_Mutation_p.A142T|TRIM26_uc010jry.2_5'UTR|TRIM26_uc003npt.2_Missense_Mutation_p.A142T|TRIM26_uc003npu.1_Missense_Mutation_p.A142T NM_003449 NP_003440 Q12899 TRI26_HUMAN tripartite motif-containing 26 142 DNA binding|zinc ion binding ovary(2)|lung(1) 3 TGGGGCTGGGCGGCCTTCTCC 0.647 29 17 --- --- --- --- PASS KCNK17 89822 broad.mit.edu 37 6 39272395 39272395 + Missense_Mutation SNP C A A rs142227833 TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr6:39272395C>A uc003ooo.2 - 3 529 c.389G>T c.(388-390)CGC>CTC p.R130L KCNK17_uc003oop.2_Missense_Mutation_p.R130L NM_031460 NP_113648 Q96T54 KCNKH_HUMAN potassium channel, subfamily K, member 17 130 Helical; (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity skin(2) 2 GCAGAAGAGGCGGGCAGCCAT 0.612 64 200 --- --- --- --- PASS APOBEC2 10930 broad.mit.edu 37 6 41029512 41029512 + Nonsense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr6:41029512G>T uc003opl.2 + 2 724 c.577G>T c.(577-579)GAG>TAG p.E193* UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.2_RNA NM_006789 NP_006780 Q9Y235 ABEC2_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 193 DNA demethylation|mRNA processing cytidine deaminase activity|RNA binding|zinc ion binding 0 Ovarian(28;0.0418)|Colorectal(47;0.196) GAATTTTGTGGAGCAAGAAGA 0.522 14 277 --- --- --- --- PASS KIAA0240 23506 broad.mit.edu 37 6 42821415 42821415 + Missense_Mutation SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr6:42821415G>C uc003osn.1 + 8 2136 c.1985G>C c.(1984-1986)GGA>GCA p.G662A KIAA0240_uc011duw.1_Missense_Mutation_p.G662A|KIAA0240_uc003osp.1_Missense_Mutation_p.G662A NM_015349 NP_056164 Q6AI39 K0240_HUMAN hypothetical protein LOC23506 662 ovary(1) 1 Colorectal(47;0.196) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104) GCATCCTTAGGAACCGCACAA 0.428 60 139 --- --- --- --- PASS TINAG 27283 broad.mit.edu 37 6 54173458 54173458 + Missense_Mutation SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr6:54173458G>A uc003pcj.2 + 1 256 c.110G>A c.(109-111)AGG>AAG p.R37K TINAG_uc003pci.2_Missense_Mutation_p.R37K|TINAG_uc010jzt.2_RNA NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 37 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity ovary(3)|central_nervous_system(1) 4 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) TATTTCACTAGGAATCACACC 0.388 82 226 --- --- --- --- PASS GFRAL 389400 broad.mit.edu 37 6 55264052 55264052 + Nonsense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr6:55264052G>T uc003pcm.1 + 7 1113 c.1027G>T c.(1027-1029)GGA>TGA p.G343* NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 343 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CACTTTAACTGGATTTCATTC 0.289 13 25 --- --- --- --- PASS TTK 7272 broad.mit.edu 37 6 80744784 80744784 + Missense_Mutation SNP A G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr6:80744784A>G uc003pjc.2 + 15 1771 c.1697A>G c.(1696-1698)GAT>GGT p.D566G TTK_uc003pjb.3_Missense_Mutation_p.D565G NM_003318 NP_003309 P33981 TTK_HUMAN TTK protein kinase 566 Protein kinase. mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1) 11 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) CAAACTCTTGATAGTTACCGG 0.289 36 124 --- --- --- --- PASS CNR1 1268 broad.mit.edu 37 6 88853833 88853833 + Silent SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr6:88853833C>T uc011dzq.1 - 2 4724 c.1161G>A c.(1159-1161)CTG>CTA p.L387L CNR1_uc010kbz.2_Silent_p.L387L|CNR1_uc011dzr.1_Silent_p.L387L|CNR1_uc011dzs.1_Silent_p.L387L|CNR1_uc003pmq.3_Silent_p.L387L|CNR1_uc011dzt.1_Silent_p.L387L|CNR1_uc010kca.2_Silent_p.L354L NM_001160260 NP_001153732 P21554 CNR1_HUMAN cannabinoid receptor 1 isoform a 387 Helical; Name=7; (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding skin(2) 2 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) TGGAGTTCAGCAGGCAGAGCA 0.522 50 190 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90450019 90450019 + Silent SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr6:90450019C>T uc003pnn.1 - 32 4643 c.4527G>A c.(4525-4527)TTG>TTA p.L1509L NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 1509 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TCCCAGCAGTCAACAGCTCTA 0.388 57 222 --- --- --- --- PASS ZBTB24 9841 broad.mit.edu 37 6 109797403 109797403 + Silent SNP T C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr6:109797403T>C uc003ptl.1 - 4 1347 c.1179A>G c.(1177-1179)CTA>CTG p.L393L ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Silent_p.L337L|ZBTB24_uc010kdt.1_RNA NM_014797 NP_055612 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 isoform 393 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) AATGGCTCTTTAGCTGTCTGT 0.348 79 248 --- --- --- --- PASS STXBP5 134957 broad.mit.edu 37 6 147581765 147581765 + Missense_Mutation SNP A T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr6:147581765A>T uc003qlz.2 + 5 607 c.446A>T c.(445-447)CAT>CTT p.H149L STXBP5_uc010khz.1_Missense_Mutation_p.H149L|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_5'UTR NM_001127715 NP_001121187 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) isoform b 149 WD 3. exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) ACATTTTGCCATCTGCCTTTC 0.358 165 102 --- --- --- --- PASS ULBP1 80329 broad.mit.edu 37 6 150289920 150289920 + Missense_Mutation SNP A T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr6:150289920A>T uc003qnp.2 + 2 306 c.263A>T c.(262-264)GAA>GTA p.E88V NM_025218 NP_079494 Q9BZM6 N2DL1_HUMAN UL16 binding protein 1 precursor 88 MHC class I alpha-1 like. antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response anchored to membrane|endoplasmic reticulum|MHC class I protein complex MHC class I receptor activity pancreas(1) 1 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.14e-11) AAAACCTGGGAAGAACAAACT 0.413 194 339 --- --- --- --- PASS VIP 7432 broad.mit.edu 37 6 153076434 153076434 + Silent SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr6:153076434C>A uc003qpe.2 + 4 433 c.261C>A c.(259-261)ACC>ACA p.T87T VIP_uc003qpf.2_Silent_p.T87T|VIP_uc010kjd.2_Silent_p.T87T NM_003381 NP_003372 P01282 VIP_HUMAN vasoactive intestinal peptide isoform 1 87 body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation extracellular region neuropeptide hormone activity 0 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144) GAGTTTTCACCAGTGACTTCA 0.318 89 179 --- --- --- --- PASS SOD2 6648 broad.mit.edu 37 6 160105988 160105988 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr6:160105988C>A uc003qsg.2 - 4 575 c.421G>T c.(421-423)GGT>TGT p.G141C SOD2_uc003qsh.2_Missense_Mutation_p.G102C|SOD2_uc003qsi.1_Missense_Mutation_p.G141C|SOD2_uc011efu.1_Intron|SOD2_uc011efv.1_Missense_Mutation_p.G102C NM_001024465 NP_001019636 P04179 SODM_HUMAN manganese superoxide dismutase isoform A 141 age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure manganese ion binding|superoxide dismutase activity 0 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103) OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06) CCTTGGACACCAACAGATGCA 0.453 6 426 --- --- --- --- PASS PACRG 135138 broad.mit.edu 37 6 163510295 163510295 + Silent SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr6:163510295C>T uc003qua.2 + 5 692 c.468C>T c.(466-468)GCC>GCT p.A156A PACRG_uc003qub.2_Silent_p.A156A|PACRG_uc003quc.2_Silent_p.A156A NM_152410 NP_689623 Q96M98 PACRG_HUMAN parkin co-regulated gene protein isoform 1 156 0 Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203) OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242) ATATAGATGCCTTGAACCTCC 0.433 248 297 --- --- --- --- PASS T 6862 broad.mit.edu 37 6 166580194 166580194 + Silent SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr6:166580194C>T uc003quu.1 - 3 850 c.357G>A c.(355-357)GCG>GCA p.A119A T_uc003qut.1_Silent_p.A119A|T_uc003quv.1_Silent_p.A119A NM_003181 NP_003172 O15178 BRAC_HUMAN transcription factor T 119 T-box. anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) CGCAGCTGGGCGCCTGCGGCT 0.637 Chordoma_Familial_Clustering_of 33 84 --- --- --- --- PASS GPR31 2853 broad.mit.edu 37 6 167570777 167570777 + Silent SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr6:167570777G>C uc011egq.1 - 1 543 c.543C>G c.(541-543)CTC>CTG p.L181L NM_005299 NP_005290 O00270 GPR31_HUMAN G protein-coupled receptor 31 181 Helical; Name=5; (Potential). integral to plasma membrane G-protein coupled receptor activity 0 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492) GAAGGCAGGAGAGTGCTTCCT 0.577 285 320 --- --- --- --- PASS IQCE 23288 broad.mit.edu 37 7 2617950 2617950 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr7:2617950G>T uc003smo.3 + 7 724 c.540G>T c.(538-540)AGG>AGT p.R180S IQCE_uc010ksm.1_Missense_Mutation_p.R180S|IQCE_uc003sml.1_Missense_Mutation_p.R180S|IQCE_uc011jvy.1_Missense_Mutation_p.R164S|IQCE_uc011jvz.1_Missense_Mutation_p.R115S|IQCE_uc003smk.3_Missense_Mutation_p.R164S|IQCE_uc003smn.3_Missense_Mutation_p.R115S NM_152558 NP_689771 Q6IPM2 IQCE_HUMAN IQ motif containing E isoform 1 180 Potential. 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) AAAACAGCAGGAAGGACCGGC 0.617 27 143 --- --- --- --- PASS RADIL 55698 broad.mit.edu 37 7 4856057 4856057 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr7:4856057G>T uc003snj.1 - 8 1941 c.1768C>A c.(1768-1770)CCA>ACA p.P590T RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Missense_Mutation_p.P95T|RADIL_uc011jwc.1_Missense_Mutation_p.P350T|RADIL_uc011jwd.1_RNA NM_018059 NP_060529 Q96JH8 RADIL_HUMAN Rap GTPase interactor 590 Dilute. cell adhesion|multicellular organismal development|signal transduction protein binding lung(2)|central_nervous_system(2)|pancreas(2)|breast(1) 7 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) GTCTGGAATGGCGGGCACTCC 0.682 15 8 --- --- --- --- PASS ZNRF2 223082 broad.mit.edu 37 7 30363339 30363339 + Missense_Mutation SNP G T T rs142290977 TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr7:30363339G>T uc003tat.2 + 2 1602 c.551G>T c.(550-552)CGA>CTA p.R184L NM_147128 NP_667339 Q8NHG8 ZNRF2_HUMAN zinc finger/RING finger 2 184 cell junction|endosome membrane|lysosomal membrane|presynaptic membrane ligase activity|zinc ion binding 0 ACAAAGCCACGAATAACCTAT 0.269 58 19 --- --- --- --- PASS CRCP 27297 broad.mit.edu 37 7 65599298 65599298 + Missense_Mutation SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr7:65599298G>A uc003tus.2 + 4 321 c.176G>A c.(175-177)AGG>AAG p.R59K CRCP_uc003tuv.2_RNA|CRCP_uc011kdw.1_Missense_Mutation_p.R52K|CRCP_uc003tut.2_Missense_Mutation_p.R26K|CRCP_uc003tuu.2_Intron NM_014478 NP_055293 O75575 RPC9_HUMAN calcitonin gene-related peptide-receptor 59 acrosome reaction|innate immune response|response to virus|transcription from RNA polymerase III promoter DNA polymerase III complex|nucleus|plasma membrane calcitonin receptor activity|DNA-directed RNA polymerase activity|nucleotide binding 0 ACACCATGCAGGCACCAGAGT 0.358 100 349 --- --- --- --- PASS CALN1 83698 broad.mit.edu 37 7 71488709 71488709 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr7:71488709G>T uc003twa.3 - 4 835 c.308C>A c.(307-309)CCC>CAC p.P103H CALN1_uc003twb.3_Missense_Mutation_p.P145H|CALN1_uc003twc.3_Missense_Mutation_p.P103H NM_001017440 NP_001017440 Q9BXU9 CABP8_HUMAN calneuron 1 isoform 2 103 EF-hand 2.|Cytoplasmic (Potential). Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding skin(1) 1 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) CACCAGTTTGGGGCCAAGAAT 0.428 186 78 --- --- --- --- PASS COL1A2 1278 broad.mit.edu 37 7 94053664 94053664 + Missense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr7:94053664C>T uc003ung.1 + 41 3053 c.2582C>T c.(2581-2583)CCA>CTA p.P861L COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_RNA NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 861 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CCTGGCACTCCAGGTCCTCAG 0.498 HNSCC(75;0.22) 258 135 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100686302 100686302 + Missense_Mutation SNP A T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr7:100686302A>T uc003uxp.1 + 3 11658 c.11605A>T c.(11605-11607)ACC>TCC p.T3869S MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3869 Extracellular (Potential). 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) TATTTCAATTACCAGTGAAAG 0.483 73 307 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103270438 103270438 + Missense_Mutation SNP C G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr7:103270438C>G uc003vca.2 - 20 2811 c.2651G>C c.(2650-2652)GGA>GCA p.G884A RELN_uc010liz.2_Missense_Mutation_p.G884A NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 884 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AAGGTAGAATCCCAGAGACTG 0.403 205 101 --- --- --- --- PASS PLXNA4 91584 broad.mit.edu 37 7 131831444 131831444 + Missense_Mutation SNP T A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr7:131831444T>A uc003vra.3 - 28 5109 c.4880A>T c.(4879-4881)TAC>TTC p.Y1627F PLXNA4_uc003vqz.3_5'Flank NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1627 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 GCTGCCCGTGTACCGGATCAT 0.577 73 263 --- --- --- --- PASS CHRM2 1129 broad.mit.edu 37 7 136700215 136700215 + Missense_Mutation SNP C G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr7:136700215C>G uc003vtf.1 + 4 1226 c.603C>G c.(601-603)ATC>ATG p.I201M CHRM2_uc003vtg.1_Missense_Mutation_p.I201M|CHRM2_uc003vtj.1_Missense_Mutation_p.I201M|CHRM2_uc003vtk.1_Missense_Mutation_p.I201M|CHRM2_uc003vtl.1_Missense_Mutation_p.I201M|CHRM2_uc003vtm.1_Missense_Mutation_p.I201M|CHRM2_uc003vti.1_Missense_Mutation_p.I201M|CHRM2_uc003vto.1_Missense_Mutation_p.I201M|CHRM2_uc003vtn.1_Missense_Mutation_p.I201M|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 201 Helical; Name=5; (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CAGTGATCATCATGACTGTGC 0.483 41 149 --- --- --- --- PASS KIAA1549 57670 broad.mit.edu 37 7 138522834 138522834 + Silent SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr7:138522834C>T uc011kql.1 - 20 5719 c.5670G>A c.(5668-5670)GAG>GAA p.E1890E KIAA1549_uc011kqi.1_Silent_p.E658E|KIAA1549_uc003vuk.3_Silent_p.E1824E|KIAA1549_uc011kqj.1_Silent_p.E1874E|KIAA1549_uc011kqk.1_Silent_p.E674E NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 1890 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 GAGCTGAGGGCTCCCTGCCTG 0.587 O BRAF pilocytic astrocytoma 16 6 --- --- --- --- PASS EPHA1 2041 broad.mit.edu 37 7 143096796 143096796 + Silent SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr7:143096796C>T uc003wcz.2 - 4 870 c.783G>A c.(781-783)CGG>CGA p.R261R NM_005232 NP_005223 P21709 EPHA1_HUMAN ephrin receptor EphA1 precursor 261 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity ovary(3)|lung(1)|breast(1) 5 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) CACAGTGGCACCGTCCTACAG 0.657 17 55 --- --- --- --- PASS OR2A14 135941 broad.mit.edu 37 7 143826379 143826379 + Missense_Mutation SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr7:143826379G>C uc011kua.1 + 1 174 c.174G>C c.(172-174)ATG>ATC p.M58I NM_001001659 NP_001001659 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, 58 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) ACACACCCATGTACTTCTTCC 0.478 471 227 --- --- --- --- PASS GIMAP4 55303 broad.mit.edu 37 7 150269350 150269350 + Silent SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr7:150269350C>T uc003whl.2 + 3 274 c.192C>T c.(190-192)TCC>TCT p.S64S GIMAP4_uc011kuu.1_5'UTR|GIMAP4_uc011kuv.1_Silent_p.S78S NM_018326 NP_060796 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 64 GTP binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CAGCAAAATCCATTACCAAGA 0.473 30 11 --- --- --- --- PASS SPAG11A 653423 broad.mit.edu 37 8 7721034 7721034 + Nonsense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr8:7721034C>T uc003wsa.2 + 3 393 c.358C>T c.(358-360)CAG>TAG p.Q120* SPAG11A_uc003wrz.2_Nonsense_Mutation_p.Q102*|SPAG11A_uc003wsb.2_RNA NM_058202 NP_478109 Q6PDA7 SG11A_HUMAN sperm associated antigen 11B isoform H Error:Variant_position_missing_in_Q6PDA7_after_alignment extracellular region 0 COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236) GACAGGCCAGCAGCACAGACA 0.527 23 156 --- --- --- --- PASS HR 55806 broad.mit.edu 37 8 21978727 21978727 + Missense_Mutation SNP C A A rs139027208 TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr8:21978727C>A uc003xas.2 - 10 2883 c.2218G>T c.(2218-2220)GCT>TCT p.A740S HR_uc003xat.2_Missense_Mutation_p.A740S NM_005144 NP_005135 O43593 HAIR_HUMAN hairless protein isoform a 740 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GGGGTCTCAGCGGAATCGGGG 0.642 80 140 --- --- --- --- PASS DCTN6 10671 broad.mit.edu 37 8 30040645 30040645 + Silent SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr8:30040645C>T uc003xhy.2 + 7 616 c.529C>T c.(529-531)CTA>TTA p.L177L NM_006571 NP_006562 O00399 DCTN6_HUMAN dynactin 6 177 centrosome transferase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119) TTACCACCACCTAAAGAAGAC 0.378 62 25 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77763722 77763722 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr8:77763722C>A uc003yav.2 + 10 4817 c.4430C>A c.(4429-4431)CCT>CAT p.P1477H ZFHX4_uc003yau.1_Missense_Mutation_p.P1522H|ZFHX4_uc003yaw.1_Missense_Mutation_p.P1477H NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1477 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) CGGACCTTACCTTTTAGAAAA 0.423 HNSCC(33;0.089) 36 9 --- --- --- --- PASS PEX2 5828 broad.mit.edu 37 8 77895774 77895774 + Missense_Mutation SNP T A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr8:77895774T>A uc003yax.2 - 4 1099 c.641A>T c.(640-642)CAG>CTG p.Q214L PEX2_uc003yay.2_Missense_Mutation_p.Q214L|PEX2_uc003yaz.2_Missense_Mutation_p.Q214L NM_000318 NP_000309 P28328 PEX2_HUMAN peroxin 2 214 peroxisome organization integral to peroxisomal membrane protein binding|zinc ion binding ovary(1) 1 TTTCAACTTCTGGACATTGAT 0.398 172 25 --- --- --- --- PASS CNGB3 54714 broad.mit.edu 37 8 87588225 87588225 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr8:87588225G>T uc003ydx.2 - 18 2283 c.2237C>A c.(2236-2238)CCA>CAA p.P746Q CNGB3_uc010maj.2_Missense_Mutation_p.P603Q NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 746 Cytoplasmic (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 CTTCTCTTCTGGCTCTCTTCC 0.284 95 38 --- --- --- --- PASS CCNE2 9134 broad.mit.edu 37 8 95897363 95897363 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr8:95897363C>A uc003yhc.2 - 9 872 c.763G>T c.(763-765)GCT>TCT p.A255S CCNE2_uc003yhd.2_Missense_Mutation_p.A255S NM_057749 NP_477097 O96020 CCNE2_HUMAN cyclin E2 255 cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding 0 Breast(36;8.75e-07) TCTTTAAGAGCATCAACTTGG 0.333 4 140 --- --- --- --- PASS EPPK1 83481 broad.mit.edu 37 8 144941086 144941086 + Silent SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr8:144941086C>T uc003zaa.1 - 1 6349 c.6336G>A c.(6334-6336)GTG>GTA p.V2112V NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 2112 cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGAACCTTCCCACTGTGATTT 0.547 153 404 --- --- --- --- PASS OPLAH 26873 broad.mit.edu 37 8 145108014 145108014 + Missense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr8:145108014C>T uc003zar.3 - 21 2972 c.2890G>A c.(2890-2892)GTG>ATG p.V964M NM_017570 NP_060040 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 964 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding 0 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) ATGTCTCGCACGGCCAGCTCA 0.682 3 13 --- --- --- --- PASS DMRT3 58524 broad.mit.edu 37 9 990075 990075 + Silent SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr9:990075G>C uc003zgw.1 + 2 527 c.489G>C c.(487-489)TCG>TCC p.S163S NM_021240 NP_067063 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 163 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(2)|central_nervous_system(1) 3 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) ACGGCAAGTCGGCAGACAATA 0.493 131 9 --- --- --- --- PASS FREM1 158326 broad.mit.edu 37 9 14842532 14842532 + Missense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr9:14842532C>T uc003zlm.2 - 9 2110 c.1520G>A c.(1519-1521)CGT>CAT p.R507H FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 507 CSPG 3. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) GAATTTGTGACGGATGCTGTG 0.507 144 21 --- --- --- --- PASS CDKN2A 1029 broad.mit.edu 37 9 21971199 21971199 + Missense_Mutation SNP C G G rs104894095 TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr9:21971199C>G uc003zpk.2 - 2 371 c.159G>C c.(157-159)ATG>ATC p.M53I MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.D109H NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 53 ANK 2. M -> I (in CMM2). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(14)|p.M53_R58del(3)|p.M53*(1)|p.V28_V51del(1)|p.M53T(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CGCTGCCCATCATCATGACCT 0.677 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 9 2 --- --- --- --- PASS AUH 549 broad.mit.edu 37 9 93979600 93979600 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr9:93979600C>A uc004arf.3 - 8 888 c.853G>T c.(853-855)GCA>TCA p.A285S AUH_uc004arg.3_Missense_Mutation_p.A256S NM_001698 NP_001689 Q13825 AUHM_HUMAN AU RNA binding protein/enoyl-Coenzyme A 285 branched chain family amino acid catabolic process|mRNA catabolic process mitochondrial matrix enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding 0 ACTCTCATTGCAACAGGTCCC 0.333 67 12 --- --- --- --- PASS DBC1 1620 broad.mit.edu 37 9 121971069 121971069 + Missense_Mutation SNP C G G rs17476783 byFrequency TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr9:121971069C>G uc004bkc.2 - 7 1529 c.1073G>C c.(1072-1074)CGC>CCC p.R358P NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 358 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 GCGGGCAGTGCGTTGGATCTT 0.577 77 12 --- --- --- --- PASS LRSAM1 90678 broad.mit.edu 37 9 130258289 130258289 + Nonsense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr9:130258289C>A uc004brb.1 + 23 2090 c.1745C>A c.(1744-1746)TCG>TAG p.S582* LRSAM1_uc010mxk.1_Nonsense_Mutation_p.S555*|LRSAM1_uc004brc.1_Nonsense_Mutation_p.S582*|LRSAM1_uc004brd.1_Nonsense_Mutation_p.S582*|LRSAM1_uc004bre.1_Nonsense_Mutation_p.S162*|uc004brf.1_5'Flank|LRSAM1_uc004brg.1_Nonsense_Mutation_p.S13* NM_001005373 NP_001005373 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif 582 SAM. negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding 0 GAGGAGCTGTCGGCTGAGCAC 0.607 35 4 --- --- --- --- PASS FUBP3 8939 broad.mit.edu 37 9 133507353 133507353 + Silent SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr9:133507353G>T uc004bzr.1 + 15 1485 c.1377G>T c.(1375-1377)GGG>GGT p.G459G FUBP3_uc004bzs.1_Silent_p.G372G NM_003934 NP_003925 Q96I24 FUBP3_HUMAN far upstream element (FUSE) binding protein 3 459 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;0.000279) GGAGCTCCGGGTGCTTCCCAA 0.592 90 15 --- --- --- --- PASS DNAJC1 64215 broad.mit.edu 37 10 22094922 22094922 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr10:22094922C>A uc001irc.2 - 9 1372 c.1085G>T c.(1084-1086)CGA>CTA p.R362L DNAJC1_uc001ird.2_Missense_Mutation_p.R248L NM_022365 NP_071760 Q96KC8 DNJC1_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 1 362 Cytoplasmic (By similarity).|SANT 1. negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding lung(1) 1 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) TGTCACAGATCGACCCAATTC 0.468 35 31 --- --- --- --- PASS DNAJC1 64215 broad.mit.edu 37 10 22094923 22094923 + Nonsense_Mutation SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr10:22094923G>A uc001irc.2 - 9 1371 c.1084C>T c.(1084-1086)CGA>TGA p.R362* DNAJC1_uc001ird.2_Nonsense_Mutation_p.R248* NM_022365 NP_071760 Q96KC8 DNJC1_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 1 362 Cytoplasmic (By similarity).|SANT 1. negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding lung(1) 1 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) GTCACAGATCGACCCAATTCG 0.468 38 30 --- --- --- --- PASS DNAJC1 64215 broad.mit.edu 37 10 22094924 22094924 + Silent SNP A C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr10:22094924A>C uc001irc.2 - 9 1370 c.1083T>G c.(1081-1083)GGT>GGG p.G361G DNAJC1_uc001ird.2_Silent_p.G247G NM_022365 NP_071760 Q96KC8 DNJC1_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 1 361 Cytoplasmic (By similarity).|SANT 1. negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding lung(1) 1 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) TCACAGATCGACCCAATTCGT 0.468 34 33 --- --- --- --- PASS GPR158 57512 broad.mit.edu 37 10 25886740 25886740 + Missense_Mutation SNP A G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr10:25886740A>G uc001isj.2 + 11 2245 c.2185A>G c.(2185-2187)AAA>GAA p.K729E GPR158_uc001isk.2_Missense_Mutation_p.K104E NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 729 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 GGAAATATATAAAAGAAAGAA 0.433 84 120 --- --- --- --- PASS ZNF37A 7587 broad.mit.edu 37 10 38404208 38404208 + Silent SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr10:38404208G>A uc001izk.2 + 7 1047 c.228G>A c.(226-228)CAG>CAA p.Q76Q ZNF37A_uc001izl.2_Silent_p.Q76Q|ZNF37A_uc001izm.2_Silent_p.Q76Q NM_001007094 NP_001007095 P17032 ZN37A_HUMAN zinc finger protein 37a 76 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1) 1 TTCCAAGCCAGAGTCATCTGG 0.393 36 9 --- --- --- --- PASS BMS1 9790 broad.mit.edu 37 10 43285856 43285856 + Missense_Mutation SNP A T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr10:43285856A>T uc001jaj.2 + 5 891 c.533A>T c.(532-534)AAA>ATA p.K178I NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 178 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 GGCTTTCCTAAAATTATGGGA 0.403 156 39 --- --- --- --- PASS FRMPD2 143162 broad.mit.edu 37 10 49448458 49448458 + Silent SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr10:49448458C>T uc001jgi.2 - 6 752 c.645G>A c.(643-645)GGG>GGA p.G215G FRMPD2_uc001jgh.2_Silent_p.G184G|FRMPD2_uc001jgj.2_Silent_p.G193G NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 215 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) CGCTGCTTGTCCCACGCAGCC 0.602 38 47 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55698651 55698651 + Silent SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr10:55698651G>T uc001jju.1 - 25 3692 c.3297C>A c.(3295-3297)ACC>ACA p.T1099T PCDH15_uc010qhq.1_Silent_p.T1104T|PCDH15_uc010qhr.1_Silent_p.T1099T|PCDH15_uc010qhs.1_Silent_p.T1111T|PCDH15_uc010qht.1_Silent_p.T1106T|PCDH15_uc010qhu.1_Silent_p.T1099T|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.T1099T|PCDH15_uc010qhw.1_Silent_p.T1062T|PCDH15_uc010qhx.1_Silent_p.T1028T|PCDH15_uc010qhy.1_Silent_p.T1104T|PCDH15_uc010qhz.1_Silent_p.T1099T|PCDH15_uc010qia.1_Silent_p.T1077T|PCDH15_uc010qib.1_Silent_p.T1077T NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1099 Cadherin 10.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) AGCTTGTCCTGGTCTCATAAT 0.373 HNSCC(58;0.16) 123 17 --- --- --- --- PASS NDST2 8509 broad.mit.edu 37 10 75567217 75567217 + Silent SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr10:75567217G>A uc001jvk.2 - 3 1734 c.930C>T c.(928-930)GAC>GAT p.D310D NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Silent_p.D187D|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Silent_p.D187D NM_003635 NP_003626 P52849 NDST2_HUMAN heparan glucosaminyl 310 Lumenal (Potential).|Heparan sulfate N-deacetylase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity ovary(1) 1 Prostate(51;0.0112) AGATGTAGCGGTCAAGGTCCA 0.493 95 19 --- --- --- --- PASS SLK 9748 broad.mit.edu 37 10 105758924 105758924 + Missense_Mutation SNP A G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr10:105758924A>G uc001kxo.1 + 6 669 c.635A>G c.(634-636)TAT>TGT p.Y212C SLK_uc001kxp.1_Missense_Mutation_p.Y212C NM_014720 NP_055535 Q9H2G2 SLK_HUMAN serine/threonine kinase 2 212 Protein kinase. apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GACAGACCCTATGACTACAAA 0.383 113 7 --- --- --- --- PASS PLEKHA1 59338 broad.mit.edu 37 10 124177426 124177426 + Nonsense_Mutation SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr10:124177426G>A uc001lge.1 + 8 746 c.623G>A c.(622-624)TGG>TAG p.W208* PLEKHA1_uc001lgf.1_Nonsense_Mutation_p.W208*|PLEKHA1_uc001lgg.1_Nonsense_Mutation_p.W208*|PLEKHA1_uc001lgh.2_Nonsense_Mutation_p.W208* NM_001001974 NP_001001974 Q9HB21 PKHA1_HUMAN pleckstrin homology domain containing, family A 208 PH 2. B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization cytoplasm|nucleus|ruffle membrane PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding kidney(1) 1 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) ATGAAAAACTGGAAGAGAAGA 0.333 66 17 --- --- --- --- PASS ADAM12 8038 broad.mit.edu 37 10 127806611 127806611 + Missense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr10:127806611C>T uc001ljk.2 - 6 1021 c.608G>A c.(607-609)AGA>AAA p.R203K ADAM12_uc010qul.1_Missense_Mutation_p.R200K|ADAM12_uc001ljm.2_Missense_Mutation_p.R203K|ADAM12_uc001ljn.2_Missense_Mutation_p.R200K|ADAM12_uc001ljl.3_Missense_Mutation_p.R200K NM_003474 NP_003465 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 isoform 1 203 cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 9 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CCTTACCCTTCTTGCCCATGT 0.488 237 45 --- --- --- --- PASS TUBGCP2 10844 broad.mit.edu 37 10 135099108 135099108 + Missense_Mutation SNP T C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr10:135099108T>C uc001lmg.1 - 12 2104 c.1747A>G c.(1747-1749)ATC>GTC p.I583V TUBGCP2_uc001lmf.1_Missense_Mutation_p.I176V|TUBGCP2_uc010qvc.1_Missense_Mutation_p.I611V|TUBGCP2_uc009ybk.1_Intron|TUBGCP2_uc010qvd.1_Missense_Mutation_p.I453V|TUBGCP2_uc001lmh.1_RNA NM_006659 NP_006650 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 583 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) AGCTGAGTGATGAGGTCATGG 0.592 31 7 --- --- --- --- PASS NUP98 4928 broad.mit.edu 37 11 3789812 3789812 + Missense_Mutation SNP A G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:3789812A>G uc001lyh.2 - 8 1238 c.947T>C c.(946-948)ATG>ACG p.M316T NUP98_uc001lyi.2_Missense_Mutation_p.M316T|NUP98_uc001lyj.1_Missense_Mutation_p.M316T|NUP98_uc001lyk.1_Missense_Mutation_p.M316T NM_016320 NP_057404 P52948 NUP98_HUMAN nucleoporin 98kD isoform 1 316 Gly/Thr-rich. 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) TTTCCTTACCATGGTGTTGGT 0.433 T HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11 AML 254 38 --- --- --- --- PASS MMP26 56547 broad.mit.edu 37 11 5010971 5010971 + Missense_Mutation SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:5010971G>C uc001lzv.2 + 2 211 c.193G>C c.(193-195)GGG>CGG p.G65R NM_021801 NP_068573 Q9NRE1 MMP26_HUMAN matrix metalloproteinase 26 preproprotein 65 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) CCATCGGAATGGGACAGACCT 0.527 49 13 --- --- --- --- PASS OR51L1 119682 broad.mit.edu 37 11 5020271 5020271 + Missense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:5020271C>T uc010qyu.1 + 1 59 c.59C>T c.(58-60)CCT>CTT p.P20L NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, 20 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) AGGGGTTTTCCTGGACTGGAG 0.428 260 46 --- --- --- --- PASS OR52A5 390054 broad.mit.edu 37 11 5153222 5153222 + Missense_Mutation SNP T C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:5153222T>C uc010qyx.1 - 1 651 c.651A>G c.(649-651)ATA>ATG p.I217M NM_001005160 NP_001005160 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, 217 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|lung(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AGGACAAGGTTATAAATATTA 0.418 152 18 --- --- --- --- PASS UBQLN3 50613 broad.mit.edu 37 11 5529151 5529151 + Missense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:5529151C>T uc001may.1 - 2 1724 c.1638G>A c.(1636-1638)ATG>ATA p.M546I HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 546 ovary(3) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTAGGCAAGGCATGAACCAGA 0.572 64 9 --- --- --- --- PASS MRVI1 10335 broad.mit.edu 37 11 10622583 10622583 + Silent SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:10622583C>T uc010rcc.1 - 15 2285 c.1899G>A c.(1897-1899)ACG>ACA p.T633T MRVI1_uc001miw.2_Silent_p.T624T|MRVI1_uc010rcb.1_Silent_p.T625T|MRVI1_uc009ygb.1_Silent_p.T318T|MRVI1_uc001mix.2_Silent_p.T318T|MRVI1_uc001miz.2_Silent_p.T542T|MRVI1_uc009ygc.1_Silent_p.T542T|MRVI1_uc010rcd.1_Silent_p.T427T|MRVI1_uc009ygd.1_Silent_p.T318T|MRVI1_uc010rce.1_RNA NM_001100167 NP_001093637 Q9Y6F6 MRVI1_HUMAN JAW1-related protein isoform c 606 Potential. platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum ovary(2)|central_nervous_system(1) 3 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) TCATCACTTCCGTTGCTTTCG 0.493 195 312 --- --- --- --- PASS NAV2 89797 broad.mit.edu 37 11 20101645 20101645 + Missense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:20101645C>T uc010rdm.1 + 27 5744 c.5383C>T c.(5383-5385)CGC>TGC p.R1795C NAV2_uc001mpp.2_Missense_Mutation_p.R1675C|NAV2_uc001mpr.3_Missense_Mutation_p.R1739C|NAV2_uc001mpt.2_Missense_Mutation_p.R788C|NAV2_uc009yhx.2_Missense_Mutation_p.R803C|NAV2_uc009yhy.1_Missense_Mutation_p.R701C|NAV2_uc009yhz.2_Missense_Mutation_p.R384C|NAV2_uc001mpu.2_Missense_Mutation_p.R177C NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 1795 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 CCTCCGCATCCGCAGGCAGCA 0.562 29 6 --- --- --- --- PASS LRRC4C 57689 broad.mit.edu 37 11 40136637 40136637 + Silent SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:40136637C>A uc001mxa.1 - 2 3170 c.1206G>T c.(1204-1206)CGG>CGT p.R402R LRRC4C_uc001mxc.1_Silent_p.R398R|LRRC4C_uc001mxd.1_Silent_p.R398R|LRRC4C_uc001mxb.1_Silent_p.R398R NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 402 Ig-like C2-type. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) GCACAGCTATCCGCACTTTGT 0.453 309 54 --- --- --- --- PASS CHST1 8534 broad.mit.edu 37 11 45671652 45671652 + Silent SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:45671652C>A uc001mys.1 - 4 1493 c.822G>T c.(820-822)ACG>ACT p.T274T NM_003654 NP_003645 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) 274 Lumenal (Potential). galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity skin(4)|pancreas(1) 5 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) CCTCGCACACCGTGGTCAGCT 0.652 108 16 --- --- --- --- PASS OR4S1 256148 broad.mit.edu 37 11 48328166 48328166 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:48328166C>A uc010rhu.1 + 1 392 c.392C>A c.(391-393)ACA>AAA p.T131K NM_001004725 NP_001004725 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, 131 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CTGCACTACACAGCCATCATG 0.577 64 146 --- --- --- --- PASS OR4C3 256144 broad.mit.edu 37 11 48347034 48347034 + Missense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:48347034C>T uc010rhv.1 + 1 542 c.542C>T c.(541-543)TCA>TTA p.S181L NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, 154 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TTCCTGCATTCATTGGTTCAG 0.532 33 202 --- --- --- --- PASS OR4C15 81309 broad.mit.edu 37 11 55321832 55321832 + Missense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:55321832C>T uc010rig.1 + 1 50 c.50C>T c.(49-51)ACC>ATC p.T17I NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, Error:Variant_position_missing_in_Q8NGM1_after_alignment sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CTTGGATGTACCAACTTGTTA 0.328 HNSCC(20;0.049) 186 30 --- --- --- --- PASS OR5M1 390168 broad.mit.edu 37 11 56380848 56380848 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:56380848C>A uc001nja.1 - 1 131 c.131G>T c.(130-132)TGC>TTC p.C44F NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, 44 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 CAGGATCATGCACAGGTTGCC 0.473 146 27 --- --- --- --- PASS OR5B12 390191 broad.mit.edu 37 11 58207613 58207613 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:58207613G>T uc010rkh.1 - 1 12 c.12C>A c.(10-12)AAC>AAA p.N4K NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, 4 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) TCACCTCTGTGTTGTTCTCCA 0.443 124 79 --- --- --- --- PASS C11orf9 745 broad.mit.edu 37 11 61545903 61545903 + Missense_Mutation SNP C G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:61545903C>G uc001nsc.1 + 14 2051 c.1955C>G c.(1954-1956)ACC>AGC p.T652S C11orf9_uc001nse.1_Missense_Mutation_p.T643S|C11orf9_uc010rll.1_Missense_Mutation_p.T43S NM_001127392 NP_001120864 Q9Y2G1 MRF_HUMAN myelin gene regulatory factor isoform 2 652 central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 GTGAAAGACACCGGAGACATG 0.577 147 35 --- --- --- --- PASS ZFPL1 7542 broad.mit.edu 37 11 64855447 64855447 + Missense_Mutation SNP C T T rs35212666 byFrequency TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:64855447C>T uc001ocq.1 + 8 959 c.794C>T c.(793-795)GCG>GTG p.A265V NM_006782 NP_006773 O95159 ZFPL1_HUMAN zinc finger protein-like 1 265 Cytoplasmic (Potential). regulation of transcription, DNA-dependent|vesicle-mediated transport Golgi apparatus|integral to membrane|nucleus DNA binding|zinc ion binding ovary(1) 1 CTCCAGCGGGCGGGGCTGCTG 0.701 11 24 --- --- --- --- PASS CAPN1 823 broad.mit.edu 37 11 64972295 64972295 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:64972295G>T uc009yqd.1 + 11 1418 c.1307G>T c.(1306-1308)CGC>CTC p.R436L CAPN1_uc001odf.1_Missense_Mutation_p.R436L|CAPN1_uc001odg.1_Missense_Mutation_p.R436L|CAPN1_uc010roa.1_Missense_Mutation_p.R177L NM_005186 NP_005177 P07384 CAN1_HUMAN calpain 1, large subunit 436 Domain III. positive regulation of cell proliferation|proteolysis cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding ovary(1) 1 Lung NSC(402;0.094)|Melanoma(852;0.16) Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813) CGCTTCGGCCGCGACATGGAG 0.667 OREG0021073 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 8 --- --- --- --- PASS CABP4 57010 broad.mit.edu 37 11 67223114 67223114 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:67223114C>A uc001olo.2 + 1 297 c.220C>A c.(220-222)CCC>ACC p.P74T GPR152_uc001olm.2_5'Flank|CABP4_uc001oln.2_Intron NM_145200 NP_660201 P57796 CABP4_HUMAN calcium binding protein 4 74 visual perception cytoplasm|extracellular region|terminal button calcium ion binding 0 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) CAATAACCCTCCCAGCACTGG 0.701 10 0 --- --- --- --- PASS ANO1 55107 broad.mit.edu 37 11 70007316 70007316 + Missense_Mutation SNP C G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:70007316C>G uc001opj.2 + 17 1933 c.1628C>G c.(1627-1629)TCC>TGC p.S543C ANO1_uc001opk.1_Missense_Mutation_p.S485C|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.S252C NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 543 Extracellular (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 TACAGAATCTCCATGGCCGCC 0.607 17 812 --- --- --- --- PASS KCNE3 10008 broad.mit.edu 37 11 74168368 74168368 + Missense_Mutation SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:74168368G>A uc001ovc.2 - 3 588 c.241C>T c.(241-243)CGC>TGC p.R81C KCNE3_uc001ovd.2_Missense_Mutation_p.R81C NM_005472 NP_005463 Q9Y6H6 KCNE3_HUMAN potassium voltage-gated channel, Isk-related 81 Cytoplasmic (Potential). integral to membrane voltage-gated potassium channel activity ovary(1) 1 Breast(11;2.86e-06) TTGCGGGAGCGGGTGTATCCC 0.512 32 34 --- --- --- --- PASS ME3 10873 broad.mit.edu 37 11 86209149 86209149 + Silent SNP A G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:86209149A>G uc001pbz.2 - 5 815 c.561T>C c.(559-561)GAT>GAC p.D187D ME3_uc001pca.2_Silent_p.D187D|ME3_uc009yvk.2_Silent_p.D187D|ME3_uc010rtr.1_RNA NM_001014811 NP_001014811 Q16798 MAON_HUMAN mitochondrial malic enzyme 3 precursor 187 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding ovary(1) 1 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) TGCGCTCCCCATCAGTCACCA 0.632 114 92 --- --- --- --- PASS DDI1 414301 broad.mit.edu 37 11 103907805 103907805 + Silent SNP A G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:103907805A>G uc001phr.2 + 1 498 c.255A>G c.(253-255)CCA>CCG p.P85P PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 85 proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) CTCGGGCTCCAGGGCGTGCCC 0.617 14 824 --- --- --- --- PASS DDX10 1662 broad.mit.edu 37 11 108712165 108712165 + Missense_Mutation SNP A G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:108712165A>G uc001pkm.2 + 15 2274 c.2209A>G c.(2209-2211)AAA>GAA p.K737E DDX10_uc001pkl.1_Missense_Mutation_p.K737E NM_004398 NP_004389 Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 737 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|lung(1)|prostate(1) 4 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) CAAATTTGACAAAGAAGAATA 0.363 T NUP98 AML* 517 19 --- --- --- --- PASS OR8B2 26595 broad.mit.edu 37 11 124253019 124253019 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:124253019G>T uc010sai.1 - 1 221 c.221C>A c.(220-222)TCC>TAC p.S74Y OR8B2_uc001qab.3_RNA NM_001005468 NP_001005468 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, 74 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 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;0.0277) GAAAACAGAGGAGTAACAGAG 0.393 6 127 --- --- --- --- PASS OR8B3 390271 broad.mit.edu 37 11 124267027 124267027 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:124267027G>T uc010saj.1 - 1 221 c.221C>A c.(220-222)TCC>TAC p.S74Y OR8B2_uc001qab.3_Intron NM_001005467 NP_001005467 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, 74 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 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;0.0277) GAAAACAGAGGAGTAACAGAG 0.373 64 29 --- --- --- --- PASS CHEK1 1111 broad.mit.edu 37 11 125505413 125505413 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:125505413G>T uc009zbo.2 + 7 1595 c.703G>T c.(703-705)GAT>TAT p.D235Y CHEK1_uc010sbh.1_Missense_Mutation_p.D251Y|CHEK1_uc010sbi.1_Missense_Mutation_p.D235Y|CHEK1_uc001qcf.3_Missense_Mutation_p.D235Y|CHEK1_uc009zbp.2_Missense_Mutation_p.D235Y|CHEK1_uc001qcg.3_Missense_Mutation_p.D235Y|CHEK1_uc009zbq.2_Missense_Mutation_p.D235Y|CHEK1_uc001qci.1_RNA NM_001114122 NP_001107594 O14757 CHK1_HUMAN checkpoint kinase 1 235 Protein kinase. cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|skin(1) 6 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) GAAAAAAATCGATTCTGCTCC 0.353 Other_conserved_DNA_damage_response_genes 75 26 --- --- --- --- PASS STYK1 55359 broad.mit.edu 37 12 10783902 10783902 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr12:10783902C>A uc001qys.2 - 5 714 c.193G>T c.(193-195)GCC>TCC p.A65S NM_018423 NP_060893 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 65 integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 GGAACAGGGGCAATGCCTAGA 0.527 HNSCC(73;0.22) 153 23 --- --- --- --- PASS LRRK2 120892 broad.mit.edu 37 12 40722188 40722188 + Missense_Mutation SNP C G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr12:40722188C>G uc001rmg.3 + 39 5804 c.5683C>G c.(5683-5685)CGA>GGA p.R1895G LRRK2_uc009zjw.2_Missense_Mutation_p.R733G|LRRK2_uc001rmi.2_Missense_Mutation_p.R728G NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1895 Protein kinase. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) ATCAGTTTACCGAGCAGCCTA 0.313 23 172 --- --- --- --- PASS PRICKLE1 144165 broad.mit.edu 37 12 42853747 42853747 + Missense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr12:42853747C>T uc010skv.1 - 8 2647 c.2360G>A c.(2359-2361)CGG>CAG p.R787Q PRICKLE1_uc001rnl.2_Missense_Mutation_p.R787Q|PRICKLE1_uc010skw.1_Missense_Mutation_p.R787Q|PRICKLE1_uc001rnm.2_Missense_Mutation_p.R787Q|PRICKLE1_uc001rnk.1_5'Flank NM_001144881 NP_001138353 Q96MT3 PRIC1_HUMAN prickle homolog 1 787 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding ovary(3)|skin(1) 4 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) TCTCTGTGGCCGGGGTTGAGG 0.488 37 255 --- --- --- --- PASS OR10AD1 121275 broad.mit.edu 37 12 48596351 48596351 + Missense_Mutation SNP C G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr12:48596351C>G uc001rrl.1 - 1 725 c.725G>C c.(724-726)TGT>TCT p.C242S NM_001004134 NP_001004134 Q8NGE0 O10AD_HUMAN olfactory receptor, family 10, subfamily AD, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GTGAGAGGCACAAGTAGAGAA 0.522 76 91 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49444120 49444120 + Missense_Mutation SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr12:49444120G>A uc001rta.3 - 11 3251 c.3251C>T c.(3250-3252)CCA>CTA p.P1084L NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1084 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TTCCAAGGCTGGGCATTCAGG 0.612 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 17 12 --- --- --- --- PASS HNRNPA1 3178 broad.mit.edu 37 12 54675662 54675662 + Missense_Mutation SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr12:54675662G>C uc001sfl.2 + 3 320 c.216G>C c.(214-216)ATG>ATC p.M72I CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.M72I|HNRNPA1_uc009zng.2_Missense_Mutation_p.M72I|HNRNPA1_uc009znh.2_Missense_Mutation_p.M72I|HNRNPA1_uc009zni.2_Missense_Mutation_p.M72I|HNRNPA1_uc001sfn.2_Missense_Mutation_p.M72I|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_Missense_Mutation_p.M27I|HNRNPA1_uc009znj.1_Missense_Mutation_p.M27I NM_031157 NP_112420 P09651 ROA1_HUMAN heterogeneous nuclear ribonucleoprotein A1 72 Globular A domain.|RRM 1. interspecies interaction between organisms|mRNA transport|nuclear import catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|single-stranded DNA binding skin(2)|ovary(1) 3 ATGCAGCTATGAATGCAAGGC 0.463 65 181 --- --- --- --- PASS TIMELESS 8914 broad.mit.edu 37 12 56811541 56811541 + Missense_Mutation SNP T G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr12:56811541T>G uc001slf.2 - 29 3754 c.3586A>C c.(3586-3588)AAG>CAG p.K1196Q NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 1196 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 CGTTTCTTCTTTTGGATTCCT 0.458 166 119 --- --- --- --- PASS PTPRB 5787 broad.mit.edu 37 12 71029792 71029792 + Missense_Mutation SNP T C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr12:71029792T>C uc001swc.3 - 2 154 c.110A>G c.(109-111)AAA>AGA p.K37R PTPRB_uc001swa.3_Missense_Mutation_p.K37R|PTPRB_uc001swd.3_Missense_Mutation_p.K36R|PTPRB_uc009zrr.1_Missense_Mutation_p.K37R|PTPRB_uc001swe.2_Missense_Mutation_p.K37R NM_001109754 NP_001103224 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B Error:Variant_position_missing_in_P23467_after_alignment angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CACGACCACTTTCTCATTTTT 0.443 45 31 --- --- --- --- PASS KCNC2 3747 broad.mit.edu 37 12 75444647 75444647 + Missense_Mutation SNP T A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr12:75444647T>A uc001sxg.1 - 3 1682 c.1138A>T c.(1138-1140)AAT>TAT p.N380Y KCNC2_uc009zry.2_Missense_Mutation_p.N380Y|KCNC2_uc001sxe.2_Missense_Mutation_p.N380Y|KCNC2_uc001sxf.2_Missense_Mutation_p.N380Y|KCNC2_uc010stw.1_Missense_Mutation_p.N380Y NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 380 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(2)|pancreas(2)|skin(1)|lung(1) 6 AAAAATTCATTAGTACTAGCT 0.458 41 99 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78400393 78400393 + Missense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr12:78400393C>T uc001syp.2 + 8 1248 c.1075C>T c.(1075-1077)CCC>TCC p.P359S NAV3_uc001syo.2_Missense_Mutation_p.P359S NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 359 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 AGCCACCTCCCCCACACCATC 0.512 HNSCC(70;0.22) 62 40 --- --- --- --- PASS ATP2B1 490 broad.mit.edu 37 12 90013882 90013882 + Missense_Mutation SNP C G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr12:90013882C>G uc001tbh.2 - 10 1904 c.1723G>C c.(1723-1725)GTC>CTC p.V575L ATP2B1_uc001tbg.2_Missense_Mutation_p.V575L|ATP2B1_uc001tbf.2_Missense_Mutation_p.V245L NM_001682 NP_001673 P20020 AT2B1_HUMAN plasma membrane calcium ATPase 1 isoform 1b 575 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 AAGGTGTAGACTTTGTACAGT 0.368 73 190 --- --- --- --- PASS C12orf74 338809 broad.mit.edu 37 12 93100489 93100489 + Missense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr12:93100489C>T uc001tch.1 + 2 312 c.82C>T c.(82-84)CCA>TCA p.P28S C12orf74_uc001tci.2_Missense_Mutation_p.P28S NM_001037671 NP_001032760 Q32Q52 CL074_HUMAN hypothetical protein LOC338809 28 0 GAGGAGCCTGCCAAAGAACCA 0.582 18 45 --- --- --- --- PASS UHRF1BP1L 23074 broad.mit.edu 37 12 100444968 100444968 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr12:100444968C>A uc001tgq.2 - 16 3685 c.3456G>T c.(3454-3456)AGG>AGT p.R1152S UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.R802S NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 1152 ovary(2) 2 CTGCTGTGCCCCTGTAATTTG 0.353 43 133 --- --- --- --- PASS GPR109B 8843 broad.mit.edu 37 12 123200902 123200902 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr12:123200902C>A uc001ucy.3 - 1 538 c.383G>T c.(382-384)CGG>CTG p.R128L GPR81_uc001ucw.1_Intron NM_006018 NP_006009 P49019 HCAR3_HUMAN G protein-coupled receptor 109B 128 Cytoplasmic (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1)|skin(1) 2 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196) Mepenzolate(DB04843)|Niacin(DB00627) ATGGACCACCCGGAAATACCT 0.562 68 41 --- --- --- --- PASS TMEM132B 114795 broad.mit.edu 37 12 125834780 125834780 + Missense_Mutation SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr12:125834780G>C uc001uhe.1 + 2 843 c.835G>C c.(835-837)GAC>CAC p.D279H NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 279 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GGTGAGCTTGGACGAGAATGT 0.567 146 426 --- --- --- --- PASS PIWIL1 9271 broad.mit.edu 37 12 130827577 130827577 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr12:130827577C>A uc001uik.2 + 3 211 c.121C>A c.(121-123)CCA>ACA p.P41T PIWIL1_uc001uij.1_Missense_Mutation_p.P41T NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 41 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) TCAGCCGCCACCAGCAGAGGG 0.478 63 46 --- --- --- --- PASS RIMBP2 23504 broad.mit.edu 37 12 130926407 130926407 + Missense_Mutation SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr12:130926407G>C uc001uil.2 - 8 1603 c.1439C>G c.(1438-1440)TCC>TGC p.S480C RIMBP2_uc001uim.2_Missense_Mutation_p.S388C|RIMBP2_uc001uin.1_Missense_Mutation_p.S139C NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 480 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) AGGCAACGTGGAGAACTCCAC 0.612 53 38 --- --- --- --- PASS B3GALTL 145173 broad.mit.edu 37 13 31891773 31891773 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr13:31891773G>T uc010aaz.2 + 13 1245 c.1135G>T c.(1135-1137)GGC>TGC p.G379C B3GALTL_uc001utn.3_RNA NM_194318 NP_919299 Q6Y288 B3GLT_HUMAN beta 1,3-galactosyltransferase-like 379 Lumenal (Potential). fucose metabolic process endoplasmic reticulum membrane|integral to membrane transferase activity, transferring glycosyl groups ovary(2) 2 Lung SC(185;0.0257) all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184) AGAGCGCTACGGCTACGGCCT 0.502 90 12 --- --- --- --- PASS PHF11 51131 broad.mit.edu 37 13 50096223 50096223 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr13:50096223C>A uc001vdb.2 + 6 887 c.550C>A c.(550-552)CTC>ATC p.L184I PHF11_uc001vdc.2_Missense_Mutation_p.L145I|PHF11_uc001vdd.2_RNA NM_001040443 NP_001035533 Q9UIL8 PHF11_HUMAN PHD finger protein 11 isoform a 184 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding 0 Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.38e-09) GAAGAAACCCCTCTCAGGCAA 0.323 55 9 --- --- --- --- PASS MYCBP2 23077 broad.mit.edu 37 13 77748550 77748550 + Silent SNP T A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr13:77748550T>A uc001vkf.2 - 38 5524 c.5433A>T c.(5431-5433)ACA>ACT p.T1811T MYCBP2_uc010aev.2_Silent_p.T1215T NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1811 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) GGCACTGAACTGTGGTCATTC 0.448 143 18 --- --- --- --- PASS ING1 3621 broad.mit.edu 37 13 111368196 111368196 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr13:111368196G>T uc001vri.2 + 1 838 c.406G>T c.(406-408)GGG>TGG p.G136W CARS2_uc010tjm.1_5'Flank|uc001vre.2_5'Flank|ING1_uc001vrf.2_Intron|ING1_uc001vrg.2_Intron|ING1_uc001vrh.2_Intron NM_005537 NP_005528 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 isoform D 136 cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding ovary(1) 1 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) GGCCACTTTCGGGCGCGGATT 0.746 14 1 --- --- --- --- PASS C14orf115 55237 broad.mit.edu 37 14 74824821 74824821 + Silent SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr14:74824821G>T uc001xpw.3 + 2 1526 c.1335G>T c.(1333-1335)CGG>CGT p.R445R NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN hypothetical protein LOC55237 445 transposition, DNA-mediated DNA binding|transposase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00147) AGGCCCTCCGGAGGAACCCCA 0.577 55 17 --- --- --- --- PASS C14orf166B 145497 broad.mit.edu 37 14 77318716 77318716 + Missense_Mutation SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr14:77318716G>C uc001xsx.2 + 8 850 c.736G>C c.(736-738)GTG>CTG p.V246L C14orf166B_uc010asn.1_Missense_Mutation_p.V6L|C14orf166B_uc001xsw.2_RNA|C14orf166B_uc010tvg.1_RNA|C14orf166B_uc010tvh.1_RNA NM_194287 NP_919263 Q0VAA2 CN16B_HUMAN hypothetical protein LOC145497 246 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) AGCCATCAACGTGGGGCTCAC 0.527 23 10 --- --- --- --- PASS OCA2 4948 broad.mit.edu 37 15 28202871 28202871 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr15:28202871G>T uc001zbh.3 - 16 1757 c.1647C>A c.(1645-1647)CAC>CAA p.H549Q OCA2_uc010ayv.2_Missense_Mutation_p.H525Q NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 549 Cytoplasmic (Potential). H -> Q (in OCA2). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) CGTGAATCTCGTGCTTCAGTT 0.617 Oculocutaneous_Albinism 15 49 --- --- --- --- PASS BUB1B 701 broad.mit.edu 37 15 40498502 40498502 + Missense_Mutation SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr15:40498502G>C uc001zkx.3 + 15 2064 c.1852G>C c.(1852-1854)GTA>CTA p.V618L BUB1B_uc010ucl.1_Missense_Mutation_p.V486L NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 618 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|kidney(1) 4 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) AGCTCGTTTTGTATCCACTCC 0.443 Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome 29 83 --- --- --- --- PASS FBN1 2200 broad.mit.edu 37 15 48789500 48789500 + Silent SNP T C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr15:48789500T>C uc001zwx.1 - 19 2584 c.2256A>G c.(2254-2256)TCA>TCG p.S752S NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 752 EGF-like 11; 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) CTTCATATCCTGAATTGCATA 0.383 145 106 --- --- --- --- PASS GABPB1 2553 broad.mit.edu 37 15 50570937 50570937 + Missense_Mutation SNP T G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr15:50570937T>G uc001zyb.2 - 9 1504 c.1080A>C c.(1078-1080)GAA>GAC p.E360D GABPB1_uc001zya.2_Missense_Mutation_p.E348D|GABPB1_uc010ufg.1_Missense_Mutation_p.E284D NM_005254 NP_005245 Q06547 GABP1_HUMAN GA binding protein transcription factor, beta 360 positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1) 1 ATTTTTGTGCTTCTCGATTTG 0.363 10 264 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54825265 54825265 + Splice_Site SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr15:54825265G>T uc002ack.2 + 24 5696 c.5696_splice c.e24+1 p.T1899_splice NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TGGACAAAACGTAAGTTTTTT 0.338 7 7 --- --- --- --- PASS DIS3L 115752 broad.mit.edu 37 15 66604126 66604126 + Missense_Mutation SNP A T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr15:66604126A>T uc010ujm.1 + 5 638 c.623A>T c.(622-624)CAG>CTG p.Q208L DIS3L_uc010ujl.1_5'UTR|DIS3L_uc002app.2_Missense_Mutation_p.Q125L|DIS3L_uc002apq.2_Missense_Mutation_p.Q208L|DIS3L_uc010bho.2_Missense_Mutation_p.Q74L NM_001143688 NP_001137160 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. 208 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding ovary(2) 2 TCTATCCTTCAGTCTCGACGG 0.458 226 177 --- --- --- --- PASS MAP2K1 5604 broad.mit.edu 37 15 66727503 66727503 + Silent SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr15:66727503G>A uc010bhq.2 + 2 694 c.219G>A c.(217-219)GAG>GAA p.E73E MAP2K1_uc010ujp.1_Silent_p.E51E NM_002755 NP_002746 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 73 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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 cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 AGATCAGTGAGCTGGGGGCTG 0.522 Cardiofaciocutaneous_syndrome 311 229 --- --- --- --- PASS IQCH 64799 broad.mit.edu 37 15 67681239 67681239 + Silent SNP A G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr15:67681239A>G uc002aqo.1 + 12 1574 c.1527A>G c.(1525-1527)AAA>AAG p.K509K IQCH_uc002aqq.1_Silent_p.K257K|IQCH_uc002aqp.1_Silent_p.K261K NM_001031715 NP_001026885 Q86VS3 IQCH_HUMAN IQ motif containing H isoform 1 509 skin(3)|ovary(1) 4 Colorectal(3;0.0856) ATTACAAAAAAATCCTAAGTC 0.398 158 111 --- --- --- --- PASS PAQR5 54852 broad.mit.edu 37 15 69677203 69677203 + Missense_Mutation SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr15:69677203G>A uc002arz.2 + 5 745 c.367G>A c.(367-369)GTC>ATC p.V123I PAQR5_uc002asa.2_Missense_Mutation_p.V123I NM_017705 NP_060175 Q9NXK6 MPRG_HUMAN progestin and adipoQ receptor family member V 123 Helical; Name=3; (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane receptor activity|steroid binding ovary(2) 2 CTATGGTGCCGTCAACCTCTT 0.562 62 37 --- --- --- --- PASS MYO9A 4649 broad.mit.edu 37 15 72170530 72170530 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr15:72170530G>T uc002atl.3 - 31 6255 c.5782C>A c.(5782-5784)CTA>ATA p.L1928I MYO9A_uc002atk.2_Missense_Mutation_p.L723I|MYO9A_uc002atm.1_Missense_Mutation_p.L724I NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 1928 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 TGTTCAAATAGTGCATAGAGG 0.363 44 112 --- --- --- --- PASS PARP6 56965 broad.mit.edu 37 15 72533854 72533854 + Missense_Mutation SNP T C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr15:72533854T>C uc002auc.2 - 23 2294 c.1835A>G c.(1834-1836)GAC>GGC p.D612G PARP6_uc002aua.2_Missense_Mutation_p.D458G|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA NM_020214 NP_064599 Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 612 PARP catalytic. NAD+ ADP-ribosyltransferase activity 0 TATCTTGGGGTCCTGAGTATT 0.502 68 60 --- --- --- --- PASS HCN4 10021 broad.mit.edu 37 15 73635889 73635889 + Missense_Mutation SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr15:73635889G>A uc002avp.2 - 2 2040 c.1046C>T c.(1045-1047)TCC>TTC p.S349F NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 349 Helical; Name=Segment S3; (Potential). blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) CACGGGGATGGAGGAAATGAA 0.527 57 49 --- --- --- --- PASS C15orf59 388135 broad.mit.edu 37 15 74032896 74032896 + Missense_Mutation SNP A T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr15:74032896A>T uc002avy.2 - 2 589 c.244T>A c.(244-246)TCT>ACT p.S82T NM_001039614 NP_001034703 Q2T9L4 CO059_HUMAN hypothetical protein LOC388135 82 pancreas(1) 1 TCACTGCTAGAGGTGCTGCTC 0.587 124 349 --- --- --- --- PASS LINGO1 84894 broad.mit.edu 37 15 77906692 77906692 + Silent SNP G C C rs61737307 by1000genomes TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr15:77906692G>C uc002bct.1 - 2 1609 c.1557C>G c.(1555-1557)CCC>CCG p.P519P LINGO1_uc002bcu.1_Silent_p.P513P NM_032808 NP_116197 Q96FE5 LIGO1_HUMAN leucine-rich repeat neuronal 6A 519 Extracellular (Potential). negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane ovary(1)|lung(1) 2 GGGGCCAGTCGGGCGAGTAGC 0.662 19 60 --- --- --- --- PASS IL16 3603 broad.mit.edu 37 15 81601090 81601090 + Missense_Mutation SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr15:81601090G>A uc002bgh.3 + 19 4326 c.3950G>A c.(3949-3951)AGG>AAG p.R1317K IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.R1358K|IL16_uc002bgg.2_Missense_Mutation_p.R1316K|IL16_uc002bgj.2_Missense_Mutation_p.R810K|IL16_uc002bgk.2_Missense_Mutation_p.R616K NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 1317 PDZ 4. immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 ATTGTCATCAGGAGAAAAAGC 0.532 63 52 --- --- --- --- PASS HBA2 3040 broad.mit.edu 37 16 227341 227341 + Silent SNP T C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr16:227341T>C uc002cfw.2 + 3 426 c.360T>C c.(358-360)CCT>CCC p.P120P HBA1_uc002cfx.1_Silent_p.P120P|HBA1_uc002cfy.1_Silent_p.P88P|HBQ1_uc002cfz.2_5'Flank NM_000558 NP_000549 P69905 HBA_HUMAN alpha 1 globin 120 hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex heme binding|oxygen binding|oxygen transporter activity|protein binding 0 all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306) Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468) AGTTCACCCCTGCGGTGCACG 0.657 OREG0003687 type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 14 21 --- --- --- --- PASS PDIA2 64714 broad.mit.edu 37 16 335151 335151 + Missense_Mutation SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr16:335151G>C uc002cgn.1 + 10 1854 c.746G>C c.(745-747)CGC>CCC p.R249P PDIA2_uc010bqt.1_Missense_Mutation_p.R94P|PDIA2_uc002cgo.1_Missense_Mutation_p.R249P NM_006849 NP_006840 Q13087 PDIA2_HUMAN protein disulfide isomerase A2 precursor 249 apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding central_nervous_system(1)|skin(1) 2 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) GATCTGTCGCGCTTCCTGGTC 0.657 35 48 --- --- --- --- PASS WDR90 197335 broad.mit.edu 37 16 708597 708597 + Missense_Mutation SNP G T T rs142498602 by1000genomes TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr16:708597G>T uc002cii.1 + 23 2893 c.2839G>T c.(2839-2841)GCC>TCC p.A947S WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.A474S|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Missense_Mutation_p.A121S|WDR90_uc002cin.1_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 947 WD 10. ovary(1) 1 Hepatocellular(780;0.0218) GCTGATTGCCGCCGGCCGGAC 0.672 65 67 --- --- --- --- PASS TBL3 10607 broad.mit.edu 37 16 2026220 2026220 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr16:2026220C>A uc002cnu.1 + 13 1299 c.1197C>A c.(1195-1197)AGC>AGA p.S399R TBL3_uc002cnv.1_Missense_Mutation_p.S285R|TBL3_uc010bsb.1_Missense_Mutation_p.S188R|TBL3_uc010bsc.1_Missense_Mutation_p.S285R|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank NM_006453 NP_006444 Q12788 TBL3_HUMAN transducin beta-like 3 399 WD 8. G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing nucleolus|small-subunit processome receptor signaling protein activity 0 AGGATCAGAGCGTCCGTATCT 0.632 45 44 --- --- --- --- PASS SALL1 6299 broad.mit.edu 37 16 51175301 51175301 + Missense_Mutation SNP A G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr16:51175301A>G uc010vgs.1 - 2 863 c.832T>C c.(832-834)TCT>CCT p.S278P SALL1_uc010vgr.1_Missense_Mutation_p.S181P|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 278 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GGGTTGGCAGATGTTCGTAAA 0.493 150 151 --- --- --- --- PASS CDH11 1009 broad.mit.edu 37 16 65022115 65022115 + Nonsense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr16:65022115G>T uc002eoi.2 - 7 1378 c.944C>A c.(943-945)TCG>TAG p.S315* CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Nonsense_Mutation_p.S315*|CDH11_uc010vin.1_Nonsense_Mutation_p.S189* NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 315 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GATTTCAAACGATTCCATACC 0.443 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 340 419 --- --- --- --- PASS FUK 197258 broad.mit.edu 37 16 70505156 70505156 + Silent SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr16:70505156C>A uc002eyy.2 + 13 1300 c.1242C>A c.(1240-1242)GGC>GGA p.G414G FUK_uc010cft.2_Silent_p.G446G|FUK_uc002eyz.2_5'UTR NM_145059 NP_659496 Q8N0W3 FUK_HUMAN fucokinase 414 cytoplasm ATP binding|fucokinase activity ovary(1) 1 Ovarian(137;0.0694) CCCTGCATGGCCGGGAGCTGC 0.682 21 24 --- --- --- --- PASS MON1B 22879 broad.mit.edu 37 16 77228951 77228951 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr16:77228951G>T uc002fez.2 + 4 1525 c.1195G>T c.(1195-1197)GCC>TCC p.A399S MON1B_uc010vnf.1_Missense_Mutation_p.A290S|MON1B_uc010vng.1_Missense_Mutation_p.A253S|MON1B_uc002ffa.2_Missense_Mutation_p.A279S NM_014940 NP_055755 Q7L1V2 MON1B_HUMAN MON1 homolog B 399 protein binding 0 CAGTGCTCCTGCCTACAGCGT 0.642 13 14 --- --- --- --- PASS FOXC2 2303 broad.mit.edu 37 16 86601098 86601098 + Missense_Mutation SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr16:86601098G>A uc002fjq.2 + 1 242 c.157G>A c.(157-159)GGC>AGC p.G53S NM_005251 NP_005242 Q99958 FOXC2_HUMAN forkhead box C2 53 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding 0 CGCGGGGATGGGCCGCTCCTA 0.677 Late-onset_Hereditary_Lymphedema 37 50 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7579485 7579485 + Nonsense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr17:7579485C>A uc002gim.2 - 4 396 c.202G>T c.(202-204)GAG>TAG p.E68* TP53_uc002gig.1_Nonsense_Mutation_p.E68*|TP53_uc002gih.2_Nonsense_Mutation_p.E68*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.E68*|TP53_uc010cni.1_Nonsense_Mutation_p.E68*|TP53_uc002gij.2_Nonsense_Mutation_p.E68*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.E29*|TP53_uc010cnk.1_Nonsense_Mutation_p.E83* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 68 Interaction with WWOX.|Interaction with HRMT1L2. E -> Q (in a sporadic cancer; somatic mutation).|E -> 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.0?(7)|p.E68*(4)|p.G59fs*23(3)|p.E68G(2)|p.E68fs*55(2)|p.E68fs*76(1)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.E68fs*81(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.E68Q(1)|p.S33fs*23(1)|p.M66fs*80(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) GGAGCAGCCTCTGGCATTCTG 0.607 111 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) 206 36 --- --- --- --- PASS MYH1 4619 broad.mit.edu 37 17 10400464 10400464 + Silent SNP G T T rs61730796 TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr17:10400464G>T uc002gmo.2 - 33 4672 c.4578C>A c.(4576-4578)CGC>CGA p.R1526R uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1526 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 GTTCATGGATGCGCTTTCCTC 0.378 80 12 --- --- --- --- PASS KCNJ12 3768 broad.mit.edu 37 17 21319347 21319347 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr17:21319347G>T uc002gyv.1 + 3 1398 c.693G>T c.(691-693)CAG>CAT p.Q231H NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 231 Cytoplasmic (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) TGCGCGCGCAGCTCATCAAGC 0.637 Prostate(3;0.18) 4 42 --- --- --- --- PASS SUPT6H 6830 broad.mit.edu 37 17 27011603 27011603 + Splice_Site SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr17:27011603G>T uc002hby.2 + 18 2320 c.2230_splice c.e18-1 p.A744_splice SUPT6H_uc010crt.2_Splice_Site_p.A744_splice NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) TCTTCCCTCAGGCCTGTAGTC 0.478 84 122 --- --- --- --- PASS SPACA3 124912 broad.mit.edu 37 17 31324532 31324532 + Missense_Mutation SNP T A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr17:31324532T>A uc002hhs.1 + 4 647 c.572T>A c.(571-573)CTG>CAG p.L191Q SPACA3_uc010cte.1_RNA NM_173847 NP_776246 Q8IXA5 SACA3_HUMAN sperm acrosome associated 3 191 Extracellular (Potential). cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.193) CCTCAGGGTCTGGGTTACTGG 0.507 205 213 --- --- --- --- PASS ACACA 31 broad.mit.edu 37 17 35598928 35598928 + Silent SNP C G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr17:35598928C>G uc002hnm.2 - 23 3053 c.2862G>C c.(2860-2862)CGG>CGC p.R954R ACACA_uc002hnk.2_Silent_p.R876R|ACACA_uc002hnl.2_Silent_p.R896R|ACACA_uc002hnn.2_Silent_p.R954R|ACACA_uc002hno.2_Silent_p.R991R|ACACA_uc010cuz.2_Silent_p.R954R NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 954 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GTTCAGATTTCCGGTTCAATG 0.423 123 165 --- --- --- --- PASS MED1 5469 broad.mit.edu 37 17 37564252 37564252 + Missense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr17:37564252C>T uc002hrv.3 - 17 4434 c.4222G>A c.(4222-4224)GTG>ATG p.V1408M MED1_uc010wee.1_Missense_Mutation_p.V1236M|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 1408 Ser-rich.|Interaction with TP53. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) TGCAAAGTCACTTTGGCTTTA 0.458 HNSCC(31;0.082) 72 220 --- --- --- --- PASS KRT36 8689 broad.mit.edu 37 17 39645861 39645861 + Missense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr17:39645861C>T uc002hwt.2 - 1 256 c.256G>A c.(256-258)GAG>AAG p.E86K NM_003771 NP_003762 O76013 KRT36_HUMAN keratin 36 86 Head. intermediate filament protein binding|structural constituent of epidermis 0 Breast(137;0.000286) AAGGAGCCCTCGCAGAACCAG 0.627 4 103 --- --- --- --- PASS EZH1 2145 broad.mit.edu 37 17 40880898 40880898 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr17:40880898G>T uc002iaz.2 - 3 207 c.62C>A c.(61-63)TCT>TAT p.S21Y EZH1_uc002iba.2_Missense_Mutation_p.S21Y|EZH1_uc010wgt.1_Intron|EZH1_uc010wgu.1_Missense_Mutation_p.S27Y|EZH1_uc010wgv.1_Missense_Mutation_p.S21Y|EZH1_uc010wgw.1_Translation_Start_Site|EZH1_uc010cyp.2_Translation_Start_Site|EZH1_uc010cyq.2_Missense_Mutation_p.S21Y|EZH1_uc010cys.2_Missense_Mutation_p.S21Y NM_001991 NP_001982 Q92800 EZH1_HUMAN enhancer of zeste homolog 1 21 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding ovary(3) 3 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) CATGTATTCAGATTTCACTTT 0.353 180 224 --- --- --- --- PASS KCNH6 81033 broad.mit.edu 37 17 61613156 61613156 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr17:61613156C>A uc002jay.2 + 6 1308 c.1228C>A c.(1228-1230)CTC>ATC p.L410I KCNH6_uc002jax.1_Missense_Mutation_p.L410I|KCNH6_uc010wpl.1_Missense_Mutation_p.L287I|KCNH6_uc010wpm.1_Missense_Mutation_p.L410I|KCNH6_uc002jaz.1_Missense_Mutation_p.L410I NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 410 Helical; Name=Segment S5; (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) CACCTTCGCGCTCATAGCGCA 0.632 27 109 --- --- --- --- PASS RNF157 114804 broad.mit.edu 37 17 74157722 74157722 + Missense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr17:74157722C>T uc002jqz.2 - 11 1028 c.959G>A c.(958-960)CGG>CAG p.R320Q RNF157_uc002jra.2_Missense_Mutation_p.R320Q NM_052916 NP_443148 Q96PX1 RN157_HUMAN ring finger protein 157 320 zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(166;0.187) AAGCAGTGCCCGGAAGGCTGT 0.512 72 143 --- --- --- --- PASS RNF213 57674 broad.mit.edu 37 17 78335564 78335564 + Missense_Mutation SNP A C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr17:78335564A>C uc002jyh.1 + 14 5673 c.5450A>C c.(5449-5451)CAG>CCG p.Q1817P uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.Q199P NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GACATCTTTCAGCAGACTCCT 0.562 38 163 --- --- --- --- PASS CHMP6 79643 broad.mit.edu 37 17 78972932 78972932 + Silent SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr17:78972932G>T uc002jyw.3 + 8 663 c.585G>T c.(583-585)GCG>GCT p.A195A NM_024591 NP_078867 Q96FZ7 CHMP6_HUMAN chromatin modifying protein 6 195 Missing: Membrane association; releases autoinhibition. cellular membrane organization|endosome transport|protein transport cytosol|endomembrane system|late endosome membrane protein N-terminus binding p.A195V(1) ovary(1) 1 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) CCAGGCAGGCGGAGCTGGTGG 0.612 98 108 --- --- --- --- PASS BAHCC1 57597 broad.mit.edu 37 17 79430641 79430641 + Missense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr17:79430641C>T uc002kaf.2 + 26 7625 c.7625C>T c.(7624-7626)GCG>GTG p.A2542V NM_001080519 NP_001073988 Q9P281 BAHC1_HUMAN BAH domain and coiled-coil containing 1 2542 BAH. DNA binding ovary(1) 1 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116) CCCCAGAATGCGCTGTACCAG 0.667 17 78 --- --- --- --- PASS NOTUM 147111 broad.mit.edu 37 17 79915782 79915782 + Missense_Mutation SNP C G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr17:79915782C>G uc010wvg.1 - 6 867 c.595G>C c.(595-597)GAG>CAG p.E199Q NM_178493 NP_848588 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog precursor 199 extracellular region hydrolase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) AAGGCGTACTCGTCTGCAAGA 0.657 15 17 --- --- --- --- PASS MYOM1 8736 broad.mit.edu 37 18 3079303 3079303 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr18:3079303C>A uc002klp.2 - 34 4856 c.4522G>T c.(4522-4524)GGG>TGG p.G1508W MYOM1_uc002klq.2_Missense_Mutation_p.G1412W NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 1508 striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 CCAGTGACCCCGGTCTTAACT 0.473 66 112 --- --- --- --- PASS LRRC30 339291 broad.mit.edu 37 18 7231852 7231852 + Missense_Mutation SNP T A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr18:7231852T>A uc010wzk.1 + 1 716 c.716T>A c.(715-717)CTC>CAC p.L239H NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 239 LRR 8. ovary(1)|liver(1) 2 CTGCTGAACCTCAACAACAAT 0.577 111 20 --- --- --- --- PASS KIAA0802 23255 broad.mit.edu 37 18 8824917 8824917 + Missense_Mutation SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr18:8824917G>A uc002knr.2 + 15 3551 c.3409G>A c.(3409-3411)GAG>AAG p.E1137K KIAA0802_uc002knq.2_Missense_Mutation_p.E1096K|KIAA0802_uc002kns.2_Missense_Mutation_p.E477K NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 1447 0 CGACAGGACCGAGGTGGGGCG 0.612 39 93 --- --- --- --- PASS ABHD3 171586 broad.mit.edu 37 18 19244139 19244139 + Missense_Mutation SNP T A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr18:19244139T>A uc002ktl.2 - 5 748 c.608A>T c.(607-609)CAC>CTC p.H203L ABHD3_uc002ktm.2_Intron|ABHD3_uc010xao.1_RNA|ABHD3_uc002ktk.2_5'UTR NM_138340 NP_612213 Q8WU67 ABHD3_HUMAN alpha/beta hydrolase domain containing protein 203 integral to membrane carboxylesterase activity central_nervous_system(1) 1 GTGTACATGGTGAATAACTGT 0.433 30 76 --- --- --- --- PASS ZNF521 25925 broad.mit.edu 37 18 22671936 22671936 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr18:22671936G>T uc002kvk.2 - 6 4015 c.3768C>A c.(3766-3768)TTC>TTA p.F1256L ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.F1256L|ZNF521_uc002kvl.2_Missense_Mutation_p.F1036L NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 1256 C2H2-type 29. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) CTGGACACTTGAAGGTGCCTC 0.498 T PAX5 ALL 61 45 --- --- --- --- PASS CHST9 83539 broad.mit.edu 37 18 24496372 24496372 + Missense_Mutation SNP A G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr18:24496372A>G uc002kwd.2 - 5 1381 c.1183T>C c.(1183-1185)TTT>CTT p.F395L C18orf16_uc002kwb.2_Intron|C18orf16_uc010xbm.1_Intron|CHST9_uc002kwc.2_Missense_Mutation_p.F310L|CHST9_uc002kwe.2_Missense_Mutation_p.F395L NM_031422 NP_113610 Q7L1S5 CHST9_HUMAN GalNAc-4-sulfotransferase 2 395 Lumenal (Potential). carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process extracellular region|Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity ovary(2)|skin(1) 3 all_lung(6;0.0145)|Ovarian(20;0.124) CTATCCTTAAAGTTGGGAAAT 0.378 56 393 --- --- --- --- PASS DSG1 1828 broad.mit.edu 37 18 28911754 28911754 + Missense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr18:28911754C>T uc002kwp.2 + 6 820 c.608C>T c.(607-609)CCT>CTT p.P203L NM_001942 NP_001933 Q02413 DSG1_HUMAN desmoglein 1 preproprotein 203 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding skin(3)|ovary(2)|central_nervous_system(2) 7 OV - Ovarian serous cystadenocarcinoma(10;0.00559) AGACAAGAACCTTCAGATTCA 0.333 98 132 --- --- --- --- PASS RIT2 6014 broad.mit.edu 37 18 40695447 40695447 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr18:40695447C>A uc002lav.2 - 1 211 c.38G>T c.(37-39)AGC>ATC p.S13I RIT2_uc010dnf.2_Missense_Mutation_p.S13I NM_002930 NP_002921 Q99578 RIT2_HUMAN Ras-like without CAAX 2 13 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity ovary(1) 1 GCCTGATGCGCTGCCCGGGGA 0.552 103 123 --- --- --- --- PASS SERPINB11 89778 broad.mit.edu 37 18 61379905 61379905 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr18:61379905C>A uc002ljk.3 + 5 397 c.335C>A c.(334-336)ACA>AAA p.T112K SERPINB11_uc010xes.1_5'UTR|SERPINB11_uc010dqd.2_5'UTR|SERPINB11_uc002ljj.3_5'UTR|SERPINB11_uc010dqe.2_5'UTR|SERPINB11_uc010dqf.2_Intron NM_080475 NP_536723 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B, member 11 112 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1) 1 Esophageal squamous(42;0.129) CTCTACGGGACAAAGACGATG 0.438 48 174 --- --- --- --- PASS CCDC102B 79839 broad.mit.edu 37 18 66678275 66678275 + Silent SNP A T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr18:66678275A>T uc002lkk.2 + 9 1591 c.1368A>T c.(1366-1368)GCA>GCT p.A456A CCDC102B_uc002lki.2_Silent_p.A456A NM_001093729 NP_001087198 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 456 Potential. ovary(1)|lung(1)|skin(1) 3 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) AAAATGAAGCAGAAGTAAAGA 0.393 86 72 --- --- --- --- PASS ZNF557 79230 broad.mit.edu 37 19 7082909 7082909 + Silent SNP A G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr19:7082909A>G uc002mgb.2 + 8 911 c.426A>G c.(424-426)GCA>GCG p.A142A ZNF557_uc002mga.2_Silent_p.A149A|ZNF557_uc002mgc.2_Silent_p.A149A NM_001044388 NP_001037853 Q8N988 ZN557_HUMAN zinc finger protein 557 isoform b 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung(535;0.179) ATCTTGGAGCAACACTCAACG 0.383 96 23 --- --- --- --- PASS MAP2K7 5609 broad.mit.edu 37 19 7975984 7975984 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr19:7975984C>A uc002mit.2 + 7 860 c.795C>A c.(793-795)AGC>AGA p.S265R MAP2K7_uc002miv.2_Missense_Mutation_p.S265R|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.S265R|MAP2K7_uc010dvv.2_Missense_Mutation_p.S140R NM_145185 NP_660186 O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 265 Protein kinase. activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1) 11 Etoposide(DB00773) TCGGCATCAGCGGCCGCCTGG 0.682 33 7 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9011492 9011492 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr19:9011492G>T uc002mkp.2 - 36 38945 c.38741C>A c.(38740-38742)CCT>CAT p.P12914H MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ATTCTTCTCAGGCCTGGGGAA 0.527 134 27 --- --- --- --- PASS RDH8 50700 broad.mit.edu 37 19 10132324 10132324 + Silent SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr19:10132324C>A uc002mmr.2 + 6 1084 c.835C>A c.(835-837)CGA>AGA p.R279R NM_015725 NP_056540 Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 279 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity ovary(3)|pancreas(1) 4 Epithelial(33;4.24e-05) Vitamin A(DB00162) CCTGTATGTGCGAACGACCCA 0.632 42 8 --- --- --- --- PASS FDX1L 112812 broad.mit.edu 37 19 10421531 10421531 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr19:10421531C>A uc002mny.1 - 4 412 c.393G>T c.(391-393)GAG>GAT p.E131D ZGLP1_uc002mnw.3_5'Flank|FDX1L_uc002mnx.1_RNA NM_001031734 NP_001026904 Q6P4F2 ADXL_HUMAN ferredoxin 1-like precursor 131 2Fe-2S ferredoxin-type. electron transport chain|transport mitochondrial matrix 2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06) CCACTCACCTCTCCTCGGGAG 0.622 35 5 --- --- --- --- PASS ILVBL 10994 broad.mit.edu 37 19 15234199 15234199 + Missense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr19:15234199C>T uc002nam.2 - 3 445 c.324G>A c.(322-324)ATG>ATA p.M108I ILVBL_uc010dzw.2_Missense_Mutation_p.M1I|ILVBL_uc010dzx.1_Missense_Mutation_p.M108I NM_006844 NP_006835 A1L0T0 ILVBL_HUMAN ilvB (bacterial acetolactate synthase)-like 108 integral to membrane magnesium ion binding|thiamine pyrophosphate binding|transferase activity ovary(2) 2 ACAGGCGGGCCATAGCATCAG 0.602 69 52 --- --- --- --- PASS OR10H2 26538 broad.mit.edu 37 19 15839214 15839214 + Missense_Mutation SNP G T T rs113885700 byFrequency TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr19:15839214G>T uc002nbm.2 + 1 381 c.361G>T c.(361-363)GAC>TAC p.D121Y NM_013939 NP_039227 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, 121 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) CATGGGCTACGACCGCTACGT 0.652 36 84 --- --- --- --- PASS KCNN1 3780 broad.mit.edu 37 19 18100568 18100568 + Missense_Mutation SNP T C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr19:18100568T>C uc002nht.2 + 8 1524 c.1214T>C c.(1213-1215)ATC>ACC p.I405T KCNN1_uc010xqa.1_Missense_Mutation_p.I405T NM_002248 NP_002239 Q92952 KCNN1_HUMAN potassium intermediate/small conductance 405 Calmodulin-binding (By similarity). synaptic transmission voltage-gated potassium channel complex calmodulin binding|small conductance calcium-activated potassium channel activity 0 ACGTGGCTCATCTACAAACAT 0.522 149 22 --- --- --- --- PASS ATP13A1 57130 broad.mit.edu 37 19 19762598 19762598 + Missense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr19:19762598C>T uc002nnh.3 - 17 2263 c.2235G>A c.(2233-2235)ATG>ATA p.M745I ATP13A1_uc002nne.2_5'UTR|ATP13A1_uc002nnf.3_Missense_Mutation_p.M113I|ATP13A1_uc002nng.2_Missense_Mutation_p.M627I NM_020410 NP_065143 Q9HD20 AT131_HUMAN ATPase type 13A1 745 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(3)|large_intestine(2)|central_nervous_system(1) 6 CTCCCGTGATCATGACCACCT 0.597 36 9 --- --- --- --- PASS ZNF91 7644 broad.mit.edu 37 19 23542464 23542464 + Missense_Mutation SNP T C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr19:23542464T>C uc002nre.2 - 4 3430 c.3317A>G c.(3316-3318)TAC>TGC p.Y1106C ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.Y1074C NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 1106 C2H2-type 35. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TCCACATTTGTAGGGTTTCTC 0.398 100 19 --- --- --- --- PASS LRP3 4037 broad.mit.edu 37 19 33698431 33698431 + Missense_Mutation SNP T G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr19:33698431T>G uc010edh.2 + 7 2356 c.2263T>G c.(2263-2265)TGC>GGC p.C755G LRP3_uc002nuk.3_Missense_Mutation_p.C629G NM_002333 NP_002324 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 755 Cytoplasmic (Potential). receptor-mediated endocytosis coated pit|integral to membrane receptor activity pancreas(2)|ovary(1) 3 Esophageal squamous(110;0.137) CCCGCCCCCCTGCTCCCCAAT 0.687 13 1 --- --- --- --- PASS SBSN 374897 broad.mit.edu 37 19 36019135 36019135 + Missense_Mutation SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr19:36019135C>T uc002oae.1 - 1 119 c.49G>A c.(49-51)GGG>AGG p.G17R SBSN_uc002oad.1_Missense_Mutation_p.G17R NM_198538 NP_940940 Q6UWP8 SBSN_HUMAN suprabasin isoform 2 precursor 17 extracellular region ovary(1) 1 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GACAGGGCCCCCAGTAGCAGA 0.607 39 46 --- --- --- --- PASS PSG9 5678 broad.mit.edu 37 19 43766118 43766118 + Silent SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr19:43766118G>C uc002owd.3 - 3 702 c.603C>G c.(601-603)ACC>ACG p.T201T PSG9_uc002owe.3_Silent_p.T201T|PSG9_uc010xwm.1_Intron|PSG9_uc002owf.3_Intron|PSG9_uc002owg.2_Silent_p.T201T|PSG9_uc002owh.2_Intron NM_002784 NP_002775 Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 201 Ig-like C2-type 1. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) ATAGATAGAGGGTCCTGTTGG 0.502 426 75 --- --- --- --- PASS ZNF235 9310 broad.mit.edu 37 19 44792476 44792476 + Missense_Mutation SNP C G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr19:44792476C>G uc002oza.3 - 5 1215 c.1112G>C c.(1111-1113)GGA>GCA p.G371A ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.G367A|ZNF235_uc010xwx.1_Missense_Mutation_p.G285A NM_004234 NP_004225 Q14590 ZN235_HUMAN zinc finger protein 93 homolog 371 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1) 3 Prostate(69;0.0352)|all_neural(266;0.116) GGGCTTCTCTCCTGTGTGAAT 0.448 81 7 --- --- --- --- PASS LMTK3 114783 broad.mit.edu 37 19 49001464 49001464 + Silent SNP T C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr19:49001464T>C uc002pjk.2 - 12 2949 c.2949A>G c.(2947-2949)AGA>AGG p.R983R NM_001080434 NP_001073903 lemur tyrosine kinase 3 lung(5)|central_nervous_system(1) 6 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) CTTTCTCTTCTCTCTCGGGGG 0.647 140 22 --- --- --- --- PASS SIGLEC14 100049587 broad.mit.edu 37 19 52148761 52148761 + Missense_Mutation SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr19:52148761G>C uc002pxf.3 - 4 843 c.723C>G c.(721-723)ATC>ATG p.I241M NM_001098612 NP_001092082 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 precursor 241 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding ovary(1) 1 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) AGAAGATGCTGATGGCGAGGT 0.562 68 24 --- --- --- --- PASS VSTM1 284415 broad.mit.edu 37 19 54561751 54561751 + Missense_Mutation SNP T C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr19:54561751T>C uc002qcw.3 - 3 340 c.164A>G c.(163-165)AAT>AGT p.N55S VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Missense_Mutation_p.N55S NM_198481 NP_940883 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 55 Ig-like V-type. integral to membrane 0 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) AAATGTCACATTCTGGGAATG 0.562 171 45 --- --- --- --- PASS LILRB2 10288 broad.mit.edu 37 19 54783745 54783745 + Missense_Mutation SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr19:54783745G>A uc002qfb.2 - 4 522 c.256C>T c.(256-258)CCA>TCA p.P86S LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.P86S|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.P86S|LILRB2_uc010yet.1_5'UTR|LILRB2_uc010yeu.1_RNA NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 86 Extracellular (Potential).|Ig-like C2-type 1. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GTGATGGATGGGATGTGGAAC 0.537 198 34 --- --- --- --- PASS ZSCAN5B 342933 broad.mit.edu 37 19 56701621 56701621 + Missense_Mutation SNP A G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr19:56701621A>G uc010ygh.1 - 4 1063 c.1063T>C c.(1063-1065)TTT>CTT p.F355L NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 355 C2H2-type 1. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 TCACATGCAAAGGGCGGCAGG 0.527 106 15 --- --- --- --- PASS CSNK2A1 1457 broad.mit.edu 37 20 470440 470440 + Missense_Mutation SNP T C C rs61730060 TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr20:470440T>C uc002wdw.1 - 10 1100 c.707A>G c.(706-708)CAT>CGT p.H236R CSNK2A1_uc002wdx.1_Missense_Mutation_p.H236R|CSNK2A1_uc002wdy.1_Missense_Mutation_p.H100R NM_177559 NP_808227 P68400 CSK21_HUMAN casein kinase II alpha 1 subunit isoform a 236 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity ovary(1) 1 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) ATAATTGTCATGTCCATGGAA 0.373 3 103 --- --- --- --- PASS FLRT3 23767 broad.mit.edu 37 20 14307905 14307905 + Missense_Mutation SNP A T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr20:14307905A>T uc002wov.1 - 3 715 c.248T>A c.(247-249)CTG>CAG p.L83Q MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.L83Q NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 83 Extracellular (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity kidney(1) 1 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) TTCTACTTTCAGCAAGTTTTT 0.348 129 187 --- --- --- --- PASS PCSK2 5126 broad.mit.edu 37 20 17341277 17341277 + Missense_Mutation SNP T C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr20:17341277T>C uc002wpm.2 + 4 817 c.497T>C c.(496-498)ATG>ACG p.M166T PCSK2_uc002wpl.2_Missense_Mutation_p.M147T|PCSK2_uc010zrm.1_Missense_Mutation_p.M131T NM_002594 NP_002585 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 166 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1) 7 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATTGGAATTATGGATGATGGT 0.443 11 25 --- --- --- --- PASS ZNF341 84905 broad.mit.edu 37 20 32349741 32349741 + Missense_Mutation SNP C G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr20:32349741C>G uc002wzy.2 + 8 1122 c.1102C>G c.(1102-1104)CAC>GAC p.H368D ZNF341_uc002wzx.2_Missense_Mutation_p.H361D|ZNF341_uc010geq.2_Missense_Mutation_p.H278D|ZNF341_uc010ger.2_RNA NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN zinc finger protein 341 368 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TGTTAAGAAACACATGCAGAC 0.567 113 372 --- --- --- --- PASS CHMP4B 128866 broad.mit.edu 37 20 32438839 32438839 + Silent SNP G A A rs146262818 byFrequency TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr20:32438839G>A uc002xaa.2 + 3 606 c.450G>A c.(448-450)TCG>TCA p.S150S NM_176812 NP_789782 Q9H444 CHM4B_HUMAN chromatin modifying protein 4B 150 Potential. cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding ovary(1)|central_nervous_system(1) 2 CAGCAATTTCGAAACCTGTAG 0.438 74 261 --- --- --- --- PASS FAM83C 128876 broad.mit.edu 37 20 33875407 33875407 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr20:33875407G>T uc010zux.1 - 4 1293 c.1175C>A c.(1174-1176)CCC>CAC p.P392H EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Intron NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN hypothetical protein LOC128876 392 ovary(2) 2 BRCA - Breast invasive adenocarcinoma(18;0.00252) ATGTAGGGAGGGCTGGCCACT 0.637 47 13 --- --- --- --- PASS CHD6 84181 broad.mit.edu 37 20 40050343 40050343 + Silent SNP T C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr20:40050343T>C uc002xka.1 - 31 5110 c.4932A>G c.(4930-4932)ACA>ACG p.T1644T NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1644 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) TTTGAGAATATGTAAGAGATT 0.423 85 41 --- --- --- --- PASS LAMA5 3911 broad.mit.edu 37 20 60893579 60893579 + Silent SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr20:60893579C>A uc002ycq.2 - 53 7237 c.7170G>T c.(7168-7170)CGG>CGT p.R2390R NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 2390 Domain II and I.|Potential. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGTCCACTGCCCGGTTCAAAG 0.677 76 67 --- --- --- --- PASS TNFRSF6B 8771 broad.mit.edu 37 20 62329762 62329762 + Missense_Mutation SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr20:62329762G>A uc002yfy.2 + 7 1183 c.749G>A c.(748-750)CGC>CAC p.R250H RTEL1_uc002yfw.2_RNA|TNFRSF6B_uc002yfz.2_Missense_Mutation_p.R250H NM_032945 NP_116563 O95407 TNF6B_HUMAN tumor necrosis factor receptor superfamily, 250 anti-apoptosis|apoptosis extracellular region|soluble fraction protein binding|receptor activity central_nervous_system(1)|skin(1) 2 all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08) Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504) AGGGCGGGCCGCGCGGCCTTG 0.726 8 19 --- --- --- --- PASS RNF160 26046 broad.mit.edu 37 21 30354687 30354687 + Silent SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr21:30354687G>A uc002ymr.2 - 5 731 c.718C>T c.(718-720)CTG>TTG p.L240L RNF160_uc010gll.1_RNA NM_015565 NP_056380 O94822 LTN1_HUMAN zinc finger protein 294 194 ligase activity|zinc ion binding 0 TGATCCTGCAGCACCTACAAA 0.373 51 23 --- --- --- --- PASS MKL1 57591 broad.mit.edu 37 22 40815102 40815102 + Missense_Mutation SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr22:40815102G>A uc003ayv.1 - 9 1547 c.1340C>T c.(1339-1341)ACG>ATG p.T447M MKL1_uc003ayw.1_Missense_Mutation_p.T447M|MKL1_uc010gye.1_Missense_Mutation_p.T447M|MKL1_uc010gyf.1_Missense_Mutation_p.T397M NM_020831 NP_065882 Q969V6 MKL1_HUMAN megakaryoblastic leukemia 1 protein 447 positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 CGTGGAGCCCGTGCTGCCAAA 0.692 T RBM15 acute megakaryocytic leukemia 8 0 --- --- --- --- PASS PRPS2 5634 broad.mit.edu 37 X 12827451 12827451 + Silent SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chrX:12827451G>A uc004cvb.2 + 3 529 c.405G>A c.(403-405)CAG>CAA p.Q135Q PRPS2_uc004cva.2_Silent_p.Q138Q|PRPS2_uc010nec.2_Silent_p.Q71Q NM_002765 NP_002756 P11908 PRPS2_HUMAN phosphoribosyl pyrophosphate synthetase 2 135 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity 0 CTCAGATACAGGTATCCGTGT 0.418 78 85 --- --- --- --- PASS CTPS2 56474 broad.mit.edu 37 X 16685639 16685639 + Missense_Mutation SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chrX:16685639G>C uc004cxk.2 - 13 2038 c.1294C>G c.(1294-1296)CTG>GTG p.L432V CTPS2_uc004cxl.2_Missense_Mutation_p.L432V|CTPS2_uc004cxm.2_Missense_Mutation_p.L432V NM_001144002 NP_001137474 Q9NRF8 PYRG2_HUMAN cytidine triphosphate synthase II 432 Glutamine amidotransferase type-1. glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process cytosol ATP binding|CTP synthase activity ovary(1) 1 Hepatocellular(33;0.0997) CCACTTACCAGAGGAACTGGG 0.378 191 11 --- --- --- --- PASS CNKSR2 22866 broad.mit.edu 37 X 21627350 21627350 + Missense_Mutation SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chrX:21627350G>C uc004czx.1 + 20 2343 c.2307G>C c.(2305-2307)CAG>CAC p.Q769H CNKSR2_uc004czw.2_Missense_Mutation_p.Q769H|CNKSR2_uc011mjn.1_Missense_Mutation_p.Q720H|CNKSR2_uc011mjo.1_Missense_Mutation_p.Q739H|CNKSR2_uc004czy.2_Missense_Mutation_p.Q361H NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 769 regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 GCTCCTGGCAGGATTTAATTG 0.547 168 12 --- --- --- --- PASS CYBB 1536 broad.mit.edu 37 X 37663199 37663199 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chrX:37663199C>A uc004ddr.2 + 9 1028 c.967C>A c.(967-969)CAA>AAA p.Q323K CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Missense_Mutation_p.Q291K|CYBB_uc011mkg.1_Missense_Mutation_p.Q56K NM_000397 NP_000388 P04839 CY24B_HUMAN cytochrome b-245 beta polypeptide 323 Cytoplasmic (Potential).|FAD-binding FR-type. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 GGAAGTGGGACAATACATTTT 0.443 113 18 --- --- --- --- PASS BCOR 54880 broad.mit.edu 37 X 39933862 39933862 + Missense_Mutation SNP T G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chrX:39933862T>G uc004den.3 - 4 1029 c.737A>C c.(736-738)TAC>TCC p.Y246S BCOR_uc004dep.3_Missense_Mutation_p.Y246S|BCOR_uc004deo.3_Missense_Mutation_p.Y246S|BCOR_uc004dem.3_Missense_Mutation_p.Y246S|BCOR_uc004deq.3_Missense_Mutation_p.Y246S NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 246 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 TGGCGGCAGGTAGAGAAAGCG 0.592 6 23 --- --- --- --- PASS DGKK 139189 broad.mit.edu 37 X 50129357 50129357 + Missense_Mutation SNP T A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chrX:50129357T>A uc010njr.1 - 15 2406 c.2346A>T c.(2344-2346)CAA>CAT p.Q782H NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 782 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) CCACCTTACCTTGTTCAACTT 0.473 34 54 --- --- --- --- PASS MED12 9968 broad.mit.edu 37 X 70343465 70343465 + Missense_Mutation SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chrX:70343465G>C uc004dyy.2 + 12 1838 c.1639G>C c.(1639-1641)GCA>CCA p.A547P MED12_uc011mpq.1_Missense_Mutation_p.A547P|MED12_uc004dyz.2_Missense_Mutation_p.A547P|MED12_uc004dza.2_Missense_Mutation_p.A394P NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 547 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) ATCAGAAGCCGCAGATGAGAA 0.493 52 3 --- --- --- --- PASS TBX22 50945 broad.mit.edu 37 X 79277824 79277824 + Missense_Mutation SNP C A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chrX:79277824C>A uc010nmg.1 + 2 190 c.56C>A c.(55-57)CCC>CAC p.P19H TBX22_uc004edi.1_5'UTR|TBX22_uc004edj.1_Missense_Mutation_p.P19H NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 19 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 GTGGGGAGACCCAGCAAAAGA 0.587 26 4 --- --- --- --- PASS TBX22 50945 broad.mit.edu 37 X 79281106 79281106 + Missense_Mutation SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chrX:79281106G>C uc010nmg.1 + 5 597 c.463G>C c.(463-465)GTC>CTC p.V155L TBX22_uc004edi.1_Missense_Mutation_p.V35L|TBX22_uc004edj.1_Missense_Mutation_p.V155L NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 155 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 TTTCAGGTACGTCTATCACAG 0.507 108 7 --- --- --- --- PASS TRPC5 7224 broad.mit.edu 37 X 111024417 111024417 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chrX:111024417G>T uc004epl.1 - 9 3037 c.2118C>A c.(2116-2118)AGC>AGA p.S706R TRPC5_uc004epm.1_Missense_Mutation_p.S706R NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 706 Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 TTTGTATCAGGCTGTCAGCAT 0.423 133 23 --- --- --- --- PASS ENOX2 10495 broad.mit.edu 37 X 129801610 129801610 + Silent SNP G C C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chrX:129801610G>C uc004evw.2 - 9 1306 c.888C>G c.(886-888)GCC>GCG p.A296A ENOX2_uc004evx.2_Silent_p.A267A|ENOX2_uc004evy.2_Silent_p.A267A|ENOX2_uc004evv.2_Silent_p.A123A NM_182314 NP_872114 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 isoform b 296 Potential. cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity ovary(1) 1 CATGGCTGTTGGCCGACTGGA 0.507 139 179 --- --- --- --- PASS HTATSF1 27336 broad.mit.edu 37 X 135593704 135593704 + Silent SNP C T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chrX:135593704C>T uc004ezw.2 + 10 2222 c.1800C>T c.(1798-1800)TCC>TCT p.S600S HTATSF1_uc004ezx.2_Silent_p.S600S NM_001163280 NP_001156752 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 600 Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) CTGAAAACTCCGAATTTGAAG 0.393 88 106 --- --- --- --- PASS MAGEA11 4110 broad.mit.edu 37 X 148797850 148797850 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chrX:148797850G>T uc004fdq.2 + 5 806 c.704G>T c.(703-705)CGC>CTC p.R235L HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.R206L NM_005366 NP_005357 P43364 MAGAB_HUMAN melanoma antigen family A, 11 isoform a 235 MAGE. cytoplasm|nucleus protein binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) TTATTGCTCCGCAAGTATCGA 0.443 284 14 --- --- --- --- PASS GABRA3 2556 broad.mit.edu 37 X 151366222 151366222 + Missense_Mutation SNP T G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chrX:151366222T>G uc010ntk.1 - 8 1054 c.814A>C c.(814-816)AAG>CAG p.K272Q NM_000808 NP_000799 P34903 GBRA3_HUMAN gamma-aminobutyric acid A receptor, alpha 3 272 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATTTTTCGCTTGAGATGGAAG 0.428 141 17 --- --- --- --- PASS BCAP31 10134 broad.mit.edu 37 X 152981080 152981080 + Silent SNP G A A TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chrX:152981080G>A uc011myz.1 - 4 414 c.258C>T c.(256-258)CCC>CCT p.P86P BCAP31_uc011myy.1_5'UTR|BCAP31_uc004fid.2_Silent_p.P153P|BCAP31_uc011mza.1_Silent_p.P86P|BCAP31_uc004fie.2_Silent_p.P86P NM_001139441 NP_001132913 P51572 BAP31_HUMAN B-cell receptor-associated protein 31 isoform b 86 Lumenal (Potential). cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane receptor binding 0 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCATGGCCCCGGGATTGTTCT 0.537 195 17 --- --- --- --- PASS SPRY3 10251 broad.mit.edu 37 X 155003858 155003858 + Missense_Mutation SNP G T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chrX:155003858G>T uc004fnq.1 + 2 779 c.325G>T c.(325-327)GGC>TGC p.G109C SPRY3_uc010nvl.1_Intron NM_005840 NP_005831 O43610 SPY3_HUMAN sprouty homolog 3 109 multicellular organismal development|regulation of signal transduction cytoplasm|membrane 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CTCACCTTCAGGCCAATCCAT 0.557 125 16 --- --- --- --- PASS AMELY 266 broad.mit.edu 37 Y 6736492 6736492 + Silent SNP A G G TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chrY:6736492A>G uc004fra.1 - 5 213 c.201T>C c.(199-201)TAT>TAC p.Y67Y AMELY_uc004fqz.2_Silent_p.Y53Y NM_001143 NP_001134 Q99218 AMELY_HUMAN amelogenin, Y-linked precursor 67 biomineral tissue development proteinaceous extracellular matrix structural constituent of tooth enamel 0 GCTCGTAACCATAGGAAGAGT 0.532 151 11 --- --- --- --- PASS CLCNKB 1188 broad.mit.edu 37 1 16374837 16374837 + Splice_Site DEL G - - TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:16374837delG uc001axw.3 + 6 579 c.499_splice c.e6-1 p.G167_splice FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Splice_Site_p.G167_splice|CLCNKB_uc001axy.3_5'Flank NM_000085 NP_000076 P51801 CLCKB_HUMAN chloride channel Kb isoform 1 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity skin(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) TCTCTCTGCAGGGCCCTTTCG 0.662 72 46 --- --- --- --- RPS6KC1 26750 broad.mit.edu 37 1 213251154 213251155 + Frame_Shift_Ins INS - T T TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr1:213251154_213251155insT uc010ptr.1 + 3 417_418 c.258_259insT c.(256-261)GTGTTTfs p.V86fs RPS6KC1_uc001hkd.2_Frame_Shift_Ins_p.V74fs|RPS6KC1_uc010pts.1_5'UTR|RPS6KC1_uc010ptt.1_5'UTR|RPS6KC1_uc010ptu.1_Intron|RPS6KC1_uc010ptv.1_5'UTR|RPS6KC1_uc001hke.2_5'UTR NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 86_87 PX. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) AAGGAATAGTGTTTGGTAAGTG 0.267 100 52 --- --- --- --- GNPDA2 132789 broad.mit.edu 37 4 44724131 44724131 + Frame_Shift_Del DEL C - - TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr4:44724131delC uc003gwy.2 - 2 251 c.94delG c.(94-96)GACfs p.D32fs GNPDA2_uc010iga.2_Frame_Shift_Del_p.D32fs|GNPDA2_uc011bzb.1_Intron|GNPDA2_uc003gwz.1_Frame_Shift_Del_p.D32fs NM_138335 NP_612208 Q8TDQ7 GNPI2_HUMAN glucosamine-6-phosphate deaminase 2 32 N-acetylglucosamine metabolic process cytoplasm glucosamine-6-phosphate deaminase activity|hydrolase activity ovary(1) 1 AAATATCTGTCCTGTCCAGGT 0.348 59 38 --- --- --- --- PCDHGB4 8641 broad.mit.edu 37 5 140767492 140767497 + In_Frame_Del DEL TGCCAG - - TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr5:140767492_140767497delTGCCAG uc003lkc.1 + 1 41_46 c.41_46delTGCCAG c.(40-48)CTGCCAGTG>CTG p.PV15del PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_In_Frame_Del_p.PV15del NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 15_16 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGAGAGGCTGCCAGTGCTCTTTCT 0.617 OREG0016859 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 4 --- --- --- --- EYA1 2138 broad.mit.edu 37 8 72211919 72211919 + Frame_Shift_Del DEL C - - TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr8:72211919delC uc003xys.3 - 7 880 c.593delG c.(592-594)GGAfs p.G198fs EYA1_uc003xyr.3_Frame_Shift_Del_p.G193fs|EYA1_uc003xyt.3_Frame_Shift_Del_p.G165fs|EYA1_uc010lzf.2_Frame_Shift_Del_p.G125fs|EYA1_uc003xyu.2_Frame_Shift_Del_p.G198fs|EYA1_uc011lfe.1_Frame_Shift_Del_p.G192fs|EYA1_uc003xyv.2_Frame_Shift_Del_p.G76fs NM_172058 NP_742055 Q99502 EYA1_HUMAN eyes absent 1 isoform b 198 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 5 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) TGAATTATTTCCTGTATATAT 0.308 38 115 --- --- --- --- CNGB3 54714 broad.mit.edu 37 8 87588148 87588163 + Frame_Shift_Del DEL TTCTAACTGAGTGGGG - - rs78239264 TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr8:87588148_87588163delTTCTAACTGAGTGGGG uc003ydx.2 - 18 2345_2360 c.2299_2314delCCCCACTCAGTTAGAA c.(2299-2316)CCCCACTCAGTTAGAAGGfs p.P767fs CNGB3_uc010maj.2_Frame_Shift_Del_p.P624fs NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 767_772 Cytoplasmic (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 AAAACTGTCCTTCTAACTGAGTGGGGTTCTTCCTCC 0.426 88 89 --- --- --- --- KAZALD1 81621 broad.mit.edu 37 10 102822791 102822809 + Frame_Shift_Del DEL CTGCAGGAGGCGGCCCGCG - - rs145868353 byFrequency TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr10:102822791_102822809delCTGCAGGAGGCGGCCCGCG uc001ksr.2 + 2 1367_1385 c.442_460delCTGCAGGAGGCGGCCCGCG c.(442-462)CTGCAGGAGGCGGCCCGCGCTfs p.L148fs KAZALD1_uc001kss.3_RNA|KAZALD1_uc001kst.1_Frame_Shift_Del_p.L148fs NM_030929 NP_112191 Q96I82 KAZD1_HUMAN Kazal-type serine peptidase inhibitor domain 1 148_154 Kazal-like. cell differentiation|multicellular organismal development|ossification|regulation of cell growth insulin-like growth factor binding 0 Epithelial(162;6.21e-09)|all cancers(201;3.14e-07) GATCTGCCGCCTGCAGGAGGCGGCCCGCGCTCGGCCCGA 0.694 2 8 --- --- --- --- FAM160A2 84067 broad.mit.edu 37 11 6244402 6244402 + Frame_Shift_Del DEL C - - TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:6244402delC uc001mcl.3 - 4 1203 c.844delG c.(844-846)GATfs p.D282fs FAM160A2_uc001mck.3_Frame_Shift_Del_p.D282fs|FAM160A2_uc001mcm.2_Frame_Shift_Del_p.D282fs NM_001098794 NP_001092264 Q8N612 F16A2_HUMAN hypothetical protein LOC84067 isoform 2 282 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding skin(2) 2 CAGTGCCAATCATCCCCTGGA 0.507 81 321 --- --- --- --- OR5M3 219482 broad.mit.edu 37 11 56237250 56237250 + Frame_Shift_Del DEL G - - TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr11:56237250delG uc010rjk.1 - 1 724 c.724delC c.(724-726)CATfs p.H242fs NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GCTGTCAGATGGGACCCACAT 0.473 31 97 --- --- --- --- ZFP14 57677 broad.mit.edu 37 19 36831795 36831795 + Frame_Shift_Del DEL G - - TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr19:36831795delG uc002odx.1 - 4 1026 c.933delC c.(931-933)CTCfs p.L311fs ZFP14_uc010xtd.1_Frame_Shift_Del_p.L312fs|ZFP14_uc010eex.1_Frame_Shift_Del_p.L311fs NM_020917 NP_065968 Q9HCL3 ZFP14_HUMAN zinc finger protein 14-like 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.162) TACATTCATAGAGCTTTTCAG 0.418 34 192 --- --- --- --- ZNF808 388558 broad.mit.edu 37 19 53067638 53067638 + RNA DEL G - - TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr19:53067638delG uc002pzq.2 + 4 c.4150delG Q8N4W9 ZN808_HUMAN Homo sapiens zinc finger protein 808, mRNA (cDNA clone IMAGE:3542548), complete cds. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) CGCATTGGTTGGGTGGGTTCA 0.308 2 10 --- --- --- --- ZNF787 126208 broad.mit.edu 37 19 56600346 56600346 + Frame_Shift_Del DEL G - - TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chr19:56600346delG uc010eth.1 - 3 314 c.195delC c.(193-195)CCCfs p.P65fs NM_001002836 NP_001002836 Q6DD87 ZN787_HUMAN zinc finger protein 787 65 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0559) TGCAGATGTAgggggcgggcg 0.507 5 13 --- --- --- --- GYG2 8908 broad.mit.edu 37 X 2778086 2778087 + Frame_Shift_Del DEL CG - - TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 754dda66-fceb-4f63-bc99-c98aaa86b0c2 8e835eb7-d797-4516-b2be-acc7800d2b0a g.chrX:2778086_2778087delCG uc004cqs.1 + 8 1192_1193 c.910_911delCG c.(910-912)CGCfs p.R304fs GYG2_uc004cqt.1_Frame_Shift_Del_p.R273fs|GYG2_uc004cqu.1_Frame_Shift_Del_p.R273fs|GYG2_uc004cqv.1_Frame_Shift_Del_p.R118fs|GYG2_uc004cqw.1_Frame_Shift_Del_p.R264fs|GYG2_uc004cqx.1_Frame_Shift_Del_p.R273fs|GYG2_uc010ndc.1_Frame_Shift_Del_p.R118fs NM_003918 NP_003909 O15488 GLYG2_HUMAN glycogenin 2 isoform b 304 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|soluble fraction glycogenin glucosyltransferase activity ovary(1)|kidney(1) 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) GGGGGAAGCACGCGCGTCTCCT 0.554 4 11 --- --- --- ---