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 MTOR 2475 broad.mit.edu 37 1 11181422 11181422 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:11181422C>A uc001asd.2 - 49 6935 c.6814G>T c.(6814-6816)GCT>TCT p.A2272S MTOR_uc001asc.2_Missense_Mutation_p.A477S NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 2272 PI3K/PI4K. 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 TAGTCCGGAGCCATCTGCATC 0.527 14 57 --- --- --- --- PASS SESN2 83667 broad.mit.edu 37 1 28599167 28599167 + Missense_Mutation SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:28599167C>T uc001bps.2 + 5 966 c.613C>T c.(613-615)CAC>TAC p.H205Y NM_031459 NP_113647 P58004 SESN2_HUMAN sestrin 2 205 cell cycle arrest cytoplasm|nucleus skin(3)|ovary(2)|pancreas(1)|lung(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649) CACCCACTGCCACTCGCTCTC 0.637 18 61 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39905023 39905023 + Missense_Mutation SNP T C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:39905023T>C uc010oiu.1 + 37 13758 c.13627T>C c.(13627-13629)TTT>CTT p.F4543L MACF1_uc010ois.1_Missense_Mutation_p.F4041L NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGAAATCAAATTTCTTGATGT 0.418 15 54 --- --- --- --- PASS DNAJC6 9829 broad.mit.edu 37 1 65854059 65854059 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:65854059G>T uc001dcd.1 + 9 1147 c.983G>T c.(982-984)GGA>GTA p.G328V DNAJC6_uc001dcc.1_Missense_Mutation_p.G359V|DNAJC6_uc010opc.1_Missense_Mutation_p.G315V|DNAJC6_uc001dce.1_Missense_Mutation_p.G385V NM_014787 NP_055602 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 328 C2 tensin-type. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding large_intestine(1)|lung(1)|ovary(1) 3 TTTCACACTGGATTCATACCA 0.393 35 70 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70446061 70446061 + Splice_Site SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:70446061G>A uc001dep.2 + 7 628 c.598_splice c.e7-1 p.P200_splice LRRC7_uc009wbg.2_Splice_Site NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TTCTCTCCCAGCCTGAAGTTC 0.343 37 141 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70451935 70451935 + Missense_Mutation SNP A T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:70451935A>T uc001dep.2 + 8 713 c.683A>T c.(682-684)AAG>ATG p.K228M LRRC7_uc009wbg.2_Translation_Start_Site NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 228 LRR 9. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TCTATAGGGAAGTTAAAGATG 0.358 6 33 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75038652 75038652 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:75038652C>A uc001dgg.2 - 14 2961 c.2742G>T c.(2740-2742)GAG>GAT p.E914D NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 914 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CATGAAGATGCTCCAAGTTCA 0.542 40 212 --- --- --- --- PASS IFI44 10561 broad.mit.edu 37 1 79125075 79125075 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:79125075G>T uc001dip.3 + 6 1043 c.919G>T c.(919-921)GTG>TTG p.V307L IFI44_uc010orr.1_Missense_Mutation_p.V307L|IFI44_uc010ors.1_Missense_Mutation_p.V24L NM_006417 NP_006408 Q8TCB0 IFI44_HUMAN interferon-induced, hepatitis C-associated 307 response to virus cytoplasm ovary(1)|central_nervous_system(1) 2 AATTCATTGTGTGGCATTTGT 0.378 21 88 --- --- --- --- PASS ELTD1 64123 broad.mit.edu 37 1 79383532 79383532 + Nonsense_Mutation SNP A T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:79383532A>T uc001diq.3 - 11 1821 c.1665T>A c.(1663-1665)TAT>TAA p.Y555* NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 555 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TTGTGCCATAATATCTGTATC 0.343 29 141 --- --- --- --- PASS TTLL7 79739 broad.mit.edu 37 1 84399338 84399338 + Nonsense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:84399338C>A uc001djc.2 - 9 1396 c.1000G>T c.(1000-1002)GGA>TGA p.G334* TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 334 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity ovary(1) 1 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) ATATCAAATCCCAGGACTTCA 0.413 22 125 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103352377 103352377 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:103352377G>T uc001dul.2 - 63 5162 c.4844C>A c.(4843-4845)CCT>CAT p.P1615H COL11A1_uc001duk.2_Missense_Mutation_p.P811H|COL11A1_uc001dum.2_Missense_Mutation_p.P1627H|COL11A1_uc001dun.2_Missense_Mutation_p.P1576H|COL11A1_uc009weh.2_Missense_Mutation_p.P1499H NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1615 Fibrillar collagen NC1. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TGGGAAGTCAGGATGGCTGAG 0.433 32 138 --- --- --- --- PASS ANKRD34A 284615 broad.mit.edu 37 1 145474235 145474235 + Missense_Mutation SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:145474235G>A uc001enq.1 + 4 2200 c.907G>A c.(907-909)GAG>AAG p.E303K NBPF10_uc001emp.3_Intron|LIX1L_uc001enr.2_5'Flank NM_001039888 NP_001034977 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34 303 Pro-rich. 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CCCATGGGCGGAGAAAGTGAC 0.632 11 42 --- --- --- --- PASS LYSMD1 388695 broad.mit.edu 37 1 151134303 151134303 + Missense_Mutation SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:151134303G>A uc001ewy.2 - 2 1090 c.454C>T c.(454-456)CTC>TTC p.L152F LYSMD1_uc010pcr.1_Missense_Mutation_p.L104F NM_212551 NP_997716 Q96S90 LYSM1_HUMAN LysM, putative peptidoglycan-binding, domain 152 cell wall macromolecule catabolic process 0 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GAGGCAGAGAGGTCATGGATG 0.517 63 148 --- --- --- --- PASS PSMB4 5692 broad.mit.edu 37 1 151372951 151372951 + Silent SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:151372951C>T uc001eyc.1 + 3 404 c.381C>T c.(379-381)AGC>AGT p.S127S PSMB4_uc010pda.1_Silent_p.S127S|PSMB4_uc001eyb.1_3'UTR NM_002796 NP_002787 P28070 PSB4_HUMAN proteasome beta 4 subunit 127 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity ovary(2) 2 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ATGGACACAGCTATAGTCCTA 0.498 19 207 --- --- --- --- PASS TCHHL1 126637 broad.mit.edu 37 1 152057612 152057612 + Missense_Mutation SNP A C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:152057612A>C uc001ezo.1 - 3 2611 c.2546T>G c.(2545-2547)TTT>TGT p.F849C NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 849 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) GTAGTTGAAAAAGACAGAACA 0.507 48 90 --- --- --- --- PASS TCHHL1 126637 broad.mit.edu 37 1 152057616 152057616 + Missense_Mutation SNP C G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:152057616C>G uc001ezo.1 - 3 2607 c.2542G>C c.(2542-2544)GTC>CTC p.V848L NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 848 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TTGAAAAAGACAGAACAATCT 0.502 50 89 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152283855 152283855 + Silent SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:152283855C>T uc001ezu.1 - 3 3543 c.3507G>A c.(3505-3507)CCG>CCA p.P1169P uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1169 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTTGACCCCGGGTGTGCAC 0.597 Ichthyosis 17 796 --- --- --- --- PASS ATP8B2 57198 broad.mit.edu 37 1 154304496 154304496 + Missense_Mutation SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:154304496G>A uc001fey.1 + 7 751 c.562G>A c.(562-564)GAT>AAT p.D188N ATP8B2_uc001few.2_Missense_Mutation_p.D169N|ATP8B2_uc001fex.2_Missense_Mutation_p.D202N NM_001005855 NP_001005855 P98198 AT8B2_HUMAN ATPase, class I, type 8B, member 2 isoform b 188 Cytoplasmic (Potential). ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(1)|skin(1) 2 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AGCAGAACTTGATGGGTAAGT 0.483 50 100 --- --- --- --- PASS PKLR 5313 broad.mit.edu 37 1 155264485 155264485 + Silent SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:155264485G>A uc001fkb.3 - 6 792 c.753C>T c.(751-753)GGC>GGT p.G251G RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Silent_p.G220G NM_000298 NP_000289 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC isoform 1 251 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity p.G251S(2) skin(4)|ovary(1) 5 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) GCAAGTTCACGCCCTTCCGGC 0.672 4 50 --- --- --- --- PASS FCRL5 83416 broad.mit.edu 37 1 157514826 157514826 + Silent SNP A G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:157514826A>G uc001fqu.2 - 4 512 c.354T>C c.(352-354)TCT>TCC p.S118S FCRL5_uc009wsm.2_Silent_p.S118S|FCRL5_uc010phv.1_Silent_p.S118S|FCRL5_uc010phw.1_Silent_p.S33S|FCRL5_uc001fqv.1_Silent_p.S118S|FCRL5_uc010phx.1_5'UTR NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 118 Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) TCAGAACCACAGAGTCTCCTT 0.413 50 77 --- --- --- --- PASS SLAMF9 89886 broad.mit.edu 37 1 159922310 159922310 + Missense_Mutation SNP G C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:159922310G>C uc001fus.2 - 3 523 c.406C>G c.(406-408)CCC>GCC p.P136A SLAMF9_uc009wtd.2_Intron|SLAMF9_uc001fut.2_Intron NM_033438 NP_254273 Q96A28 SLAF9_HUMAN SLAM family member 9 isoform 1 136 Ig-like C2-type.|Extracellular (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GTGATCTGGGGCTCTGACAGC 0.517 38 117 --- --- --- --- PASS FCGR2B 2213 broad.mit.edu 37 1 161647118 161647118 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:161647118C>A uc001gaz.1 + 7 910 c.818C>A c.(817-819)GCC>GAC p.A273D FCGR2B_uc001gay.1_Missense_Mutation_p.A272D|FCGR2B_uc001gba.1_Missense_Mutation_p.A253D|FCGR2B_uc001gbb.1_Missense_Mutation_p.A254D|FCGR2B_uc009wun.1_Missense_Mutation_p.A266D NM_004001 NP_003992 P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor 273 Cytoplasmic (Potential). immune response|interspecies interaction between organisms|regulation of immune response integral to membrane|plasma membrane IgG binding|receptor activity 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TTTCCCACAGCCAATCCCACT 0.532 T ? ALL 26 70 --- --- --- --- PASS ALDH9A1 223 broad.mit.edu 37 1 165649797 165649797 + Missense_Mutation SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:165649797G>A uc001gdh.1 - 5 821 c.716C>T c.(715-717)ACA>ATA p.T239I ALDH9A1_uc010pky.1_Missense_Mutation_p.T145I|ALDH9A1_uc010pkz.1_Missense_Mutation_p.T229I|ALDH9A1_uc010pla.1_Missense_Mutation_p.T145I NM_000696 NP_000687 P49189 AL9A1_HUMAN aldehyde dehydrogenase 9A1 215 carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process cytosol|plasma membrane 3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) NADH(DB00157) AAACTGGCCTGTGGCAGCCCC 0.532 83 127 --- --- --- --- PASS TNN 63923 broad.mit.edu 37 1 175054540 175054540 + Splice_Site SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:175054540G>T uc001gkl.1 + 6 1348 c.1235_splice c.e6-1 p.G412_splice TNN_uc010pmx.1_Splice_Site_p.G412_splice NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CTTGTTTCCAGGTCTGCACCC 0.597 9 18 --- --- --- --- PASS RFWD2 64326 broad.mit.edu 37 1 176132955 176132955 + Missense_Mutation SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:176132955C>T uc001gku.1 - 4 894 c.638G>A c.(637-639)AGC>AAC p.S213N RFWD2_uc001gkv.1_Intron|RFWD2_uc001gkw.1_Intron|RFWD2_uc009wwv.2_5'Flank|RFWD2_uc001gkt.1_Missense_Mutation_p.S72N NM_022457 NP_071902 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2 isoform a 213 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 ACATACGGTGCTACTCACTGA 0.274 35 43 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176564618 176564618 + Silent SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:176564618G>A uc001gkz.2 + 3 3042 c.1878G>A c.(1876-1878)GGG>GGA p.G626G PAPPA2_uc001gky.1_Silent_p.G626G|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 626 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GCAGGGATGGGCTCTGTCACG 0.602 12 83 --- --- --- --- PASS FAM5C 339479 broad.mit.edu 37 1 190423895 190423895 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:190423895G>T uc001gse.1 - 2 358 c.126C>A c.(124-126)AGC>AGA p.S42R FAM5C_uc010pot.1_Missense_Mutation_p.A4D NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 42 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) AGTCGAAGGGGCTTGTGGCAT 0.502 25 49 --- --- --- --- PASS RGS18 64407 broad.mit.edu 37 1 192150519 192150519 + Silent SNP A T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:192150519A>T uc001gsg.2 + 4 557 c.381A>T c.(379-381)GGA>GGT p.G127G NM_130782 NP_570138 Q9NS28 RGS18_HUMAN regulator of G-protein signalling 18 127 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3) 3 AAAGCAAGGGACCTCAACAAA 0.328 4 98 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216260067 216260067 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:216260067C>A uc001hku.1 - 24 5368 c.4981G>T c.(4981-4983)GAT>TAT p.D1661Y NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1661 Laminin G-like 1.|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) TCACCAGGATCCTTCCTGAGG 0.383 HNSCC(13;0.011) 33 58 --- --- --- --- PASS ACTN2 88 broad.mit.edu 37 1 236883405 236883405 + Missense_Mutation SNP A C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:236883405A>C uc001hyf.2 + 4 566 c.362A>C c.(361-363)GAA>GCA p.E121A ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Missense_Mutation_p.E121A NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 121 CH 1.|Actin-binding. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) TTACCTGCAGAAATTGTTGAT 0.353 34 74 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237893559 237893559 + Splice_Site SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:237893559G>T uc001hyl.1 + 77 10959 c.10839_splice c.e77-1 p.R3613_splice RYR2_uc010pya.1_Splice_Site_p.R9_splice NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 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) TTACCTTTCAGGCATCGGGCT 0.338 30 33 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237893560 237893560 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:237893560G>T uc001hyl.1 + 77 10959 c.10839G>T c.(10837-10839)AGG>AGT p.R3613S RYR2_uc010pya.1_Missense_Mutation_p.R9S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3613 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) TACCTTTCAGGCATCGGGCTG 0.338 29 34 --- --- --- --- PASS ZP4 57829 broad.mit.edu 37 1 238048518 238048518 + Missense_Mutation SNP A C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr1:238048518A>C uc001hym.2 - 9 1258 c.1258T>G c.(1258-1260)TTC>GTC p.F420V LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 420 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) CTGAAGGTGAAGATGCTGAAG 0.547 27 86 --- --- --- --- PASS CAD 790 broad.mit.edu 37 2 27448094 27448094 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:27448094G>T uc002rji.2 + 11 1765 c.1603G>T c.(1603-1605)GCA>TCA p.A535S CAD_uc010eyw.2_Missense_Mutation_p.A535S NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 535 CPSase (Carbamoyl-phosphate synthase).|CPSase A.|ATP-grasp 1. A -> G (in Ref. 1; BAA11423). '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) GAGCGAGGCAGCAAATTCTCT 0.463 17 24 --- --- --- --- PASS BRE 9577 broad.mit.edu 37 2 28521252 28521252 + Nonsense_Mutation SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:28521252C>T uc002rlr.2 + 12 1300 c.982C>T c.(982-984)CAG>TAG p.Q328* BRE_uc002rlp.1_Nonsense_Mutation_p.Q328*|BRE_uc002rlq.2_Nonsense_Mutation_p.Q328*|BRE_uc002rls.2_Nonsense_Mutation_p.Q328*|BRE_uc002rlt.2_Nonsense_Mutation_p.Q328*|BRE_uc002rlu.2_Nonsense_Mutation_p.Q328*|BRE_uc002rlv.2_Nonsense_Mutation_p.Q190*|BRE_uc002rlx.2_RNA NM_199194 NP_954664 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A 328 UEV-like 2. apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding lung(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) TCTCACATTTCAGTCCGTTTA 0.428 9 288 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32664696 32664696 + Missense_Mutation SNP A T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:32664696A>T uc010ezu.2 + 16 3886 c.3752A>T c.(3751-3753)CAC>CTC p.H1251L NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 1251 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TCCCTAAAACACCAGAGTAAC 0.388 11 52 --- --- --- --- PASS FSHR 2492 broad.mit.edu 37 2 49190433 49190433 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:49190433G>T uc002rww.2 - 10 1601 c.1527C>A c.(1525-1527)AGC>AGA p.S509R FSHR_uc002rwx.2_Missense_Mutation_p.S447R|FSHR_uc010fbn.2_Missense_Mutation_p.S483R NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 509 Extracellular (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TCATGTAGCTGCTGATGCCAA 0.532 Gonadal_Dysgenesis_46_XX 6 24 --- --- --- --- PASS CHAC2 494143 broad.mit.edu 37 2 54001636 54001636 + Missense_Mutation SNP G C C rs74780760 byFrequency TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:54001636G>C uc002rxk.1 + 3 624 c.529G>C c.(529-531)GGG>CGG p.G177R ASB3_uc002rxg.1_Intron|ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_Intron NM_001008708 NP_001008708 Q8WUX2 CHAC2_HUMAN ChaC, cation transport regulator-like 2 177 0 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) ACGTTTAGAAGGGAAACAGAA 0.323 24 45 --- --- --- --- PASS CLEC4F 165530 broad.mit.edu 37 2 71046962 71046962 + Silent SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:71046962G>A uc002shf.2 - 2 200 c.123C>T c.(121-123)ACC>ACT p.T41T CLEC4F_uc010yqv.1_Silent_p.T41T NM_173535 NP_775806 Q8N1N0 CLC4F_HUMAN C-type lectin, superfamily member 13 41 Helical; Signal-anchor for type II membrane protein; (Potential). endocytosis integral to membrane receptor activity|sugar binding ovary(5) 5 TAAATGCCGGGGTAGCCTGAA 0.552 8 49 --- --- --- --- PASS LRRTM4 80059 broad.mit.edu 37 2 77745534 77745534 + Silent SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:77745534G>A uc002snr.2 - 3 1876 c.1461C>T c.(1459-1461)GAC>GAT p.D487D LRRTM4_uc002snq.2_Silent_p.D487D|LRRTM4_uc002sns.2_Silent_p.D487D|LRRTM4_uc002snt.2_Silent_p.D488D NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 487 Cytoplasmic (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) TAGGCTTGTAGTCCACATAAT 0.458 11 39 --- --- --- --- PASS REG3A 5068 broad.mit.edu 37 2 79385824 79385824 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:79385824G>T uc002sod.1 - 2 403 c.148C>A c.(148-150)CAC>AAC p.H50N REG3A_uc002soe.1_Missense_Mutation_p.H50N|REG3A_uc002sof.1_Missense_Mutation_p.H50N NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 50 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 GCATAGCAGTGGGAGCCATAG 0.567 23 43 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89384752 89384752 + RNA SNP G C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:89384752G>C uc010ytr.1 - 50 c.5388C>G uc002stl.2_Intron Parts of antibodies, mostly variable regions. AGTGAACTCTGTCCCAGACCC 0.522 11 79 --- --- --- --- PASS FAHD2B 151313 broad.mit.edu 37 2 97749943 97749943 + Missense_Mutation SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:97749943C>T uc002sxm.2 - 6 908 c.757G>A c.(757-759)GTA>ATA p.V253I NM_199336 NP_955368 Q6P2I3 FAH2B_HUMAN fumarylacetoacetate hydrolase domain containing 253 hydrolase activity|metal ion binding 0 GTCTTGAATACCATCTGGTTG 0.542 25 104 --- --- --- --- PASS ST6GAL2 84620 broad.mit.edu 37 2 107423321 107423321 + Missense_Mutation SNP T C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:107423321T>C uc002tdq.2 - 6 1522 c.1403A>G c.(1402-1404)TAC>TGC p.Y468C ST6GAL2_uc002tdr.2_Missense_Mutation_p.Y468C NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 468 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 CAGCTCGTGGTAGTGGCACAG 0.562 12 48 --- --- --- --- PASS SLC35F5 80255 broad.mit.edu 37 2 114503904 114503904 + Missense_Mutation SNP C G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:114503904C>G uc002tku.1 - 5 854 c.430G>C c.(430-432)GAA>CAA p.E144Q SLC35F5_uc002tkt.2_RNA|SLC35F5_uc002tkv.2_Missense_Mutation_p.E138Q|SLC35F5_uc002tkw.2_Missense_Mutation_p.E144Q NM_025181 NP_079457 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 144 transport integral to membrane 0 AAGTAACCTTCAGCATCTGCA 0.368 39 51 --- --- --- --- PASS FAM123C 205147 broad.mit.edu 37 2 131520539 131520539 + Silent SNP C A A rs140458255 TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:131520539C>A uc002trw.2 + 2 1084 c.894C>A c.(892-894)CCC>CCA p.P298P FAM123C_uc010fmv.2_Silent_p.P298P|FAM123C_uc010fms.1_Silent_p.P298P|FAM123C_uc010fmt.1_Silent_p.P298P|FAM123C_uc010fmu.1_Silent_p.P298P NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 298 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) TGGCCTCGCCCGCCCAGAATG 0.657 21 31 --- --- --- --- PASS POTEE 445582 broad.mit.edu 37 2 132021476 132021476 + Silent SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:132021476C>T uc002tsn.2 + 15 2500 c.2448C>T c.(2446-2448)CGC>CGT p.R816R PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.R416R|POTEE_uc002tsl.2_Silent_p.R398R|POTEE_uc010fmy.1_Silent_p.R280R NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 816 Actin-like. ATP binding 0 AGGCCAACCGCGAGAAGATGA 0.607 25 191 --- --- --- --- PASS LYPD1 116372 broad.mit.edu 37 2 133427492 133427492 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:133427492C>A uc002ttn.2 - 1 990 c.14G>T c.(13-15)GGC>GTC p.G5V LYPD1_uc002ttm.3_Missense_Mutation_p.S21I|LYPD1_uc002tto.2_Intron NM_144586 NP_653187 Q8N2G4 LYPD1_HUMAN LY6/PLAUR domain containing 1 isoform a 5 anchored to membrane|plasma membrane 0 TGCCGCGATGCCTAGGACCCA 0.657 3 33 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141707967 141707967 + Silent SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:141707967G>A uc002tvj.1 - 20 3945 c.2973C>T c.(2971-2973)GAC>GAT p.D991D LRP1B_uc010fnl.1_Silent_p.D173D NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 991 Extracellular (Potential).|LDL-receptor class A 6. 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) CCCCACAGTCGTCATCTGGAA 0.438 TSP Lung(27;0.18) 15 36 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152520262 152520262 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:152520262C>A uc010fnx.2 - 45 5754 c.5563G>T c.(5563-5565)GAC>TAC p.D1855Y NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 1855 Nebulin 48. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TATTCCCGGTCTGACTGCATC 0.532 27 51 --- --- --- --- PASS ACVR1C 130399 broad.mit.edu 37 2 158401074 158401074 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:158401074C>A uc002tzk.3 - 5 1069 c.826G>T c.(826-828)GGC>TGC p.G276C ACVR1C_uc002tzl.3_Missense_Mutation_p.G196C|ACVR1C_uc010fof.2_Missense_Mutation_p.G119C|ACVR1C_uc010foe.2_Missense_Mutation_p.G226C NM_145259 NP_660302 Q8NER5 ACV1C_HUMAN activin A receptor, type IC isoform 1 276 Protein kinase.|Cytoplasmic (Potential). apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity lung(3)|ovary(2)|skin(2) 7 TATAAGGAGCCCTGTTCATGA 0.378 30 48 --- --- --- --- PASS SCN3A 6328 broad.mit.edu 37 2 165970326 165970326 + Silent SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:165970326C>T uc002ucx.2 - 20 4161 c.3669G>A c.(3667-3669)TTG>TTA p.L1223L SCN3A_uc002ucy.2_Silent_p.L1174L|SCN3A_uc002ucz.2_Silent_p.L1174L|SCN3A_uc002uda.1_Silent_p.L1043L|SCN3A_uc002udb.1_Silent_p.L1043L NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 1223 Helical; Name=S1 of repeat III; (Potential). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) TTTCACTTACCAATGCACCAC 0.378 13 77 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166847771 166847771 + Missense_Mutation SNP T G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:166847771T>G uc010zcz.1 - 26 5999 c.5981A>C c.(5980-5982)AAA>ACA p.K1994T NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 2005 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CCCTTTGGCTTTTTCATCTTT 0.378 6 35 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166847856 166847856 + Missense_Mutation SNP T C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:166847856T>C uc010zcz.1 - 26 5914 c.5896A>G c.(5896-5898)ATG>GTG p.M1966V NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1977 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GCAGTGGACATGGTCAGATCA 0.368 15 67 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179393123 179393123 + Missense_Mutation SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:179393123C>T uc010zfg.1 - 310 99775 c.99551G>A c.(99550-99552)CGC>CAC p.R33184H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R26879H|TTN_uc010zfi.1_Missense_Mutation_p.R26812H|TTN_uc010zfj.1_Missense_Mutation_p.R26687H|TTN_uc002umq.2_Missense_Mutation_p.R201H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 34111 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) ATTTCTGGAGCGGCTTATGCT 0.378 35 50 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179473493 179473493 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:179473493G>T uc010zfg.1 - 223 44765 c.44541C>A c.(44539-44541)GAC>GAA p.D14847E uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D8542E|TTN_uc010zfi.1_Missense_Mutation_p.D8475E|TTN_uc010zfj.1_Missense_Mutation_p.D8350E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15774 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) TCCATTCTGAGTCGGGTTTTG 0.393 14 79 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179613239 179613239 + Missense_Mutation SNP G T T rs139103966 TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:179613239G>T uc002unb.2 - 46 14112 c.13888C>A c.(13888-13890)CTG>ATG p.L4630M 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) TGGAACTCCAGAGCTGGATCT 0.373 61 110 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179637971 179637971 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:179637971G>T uc010zfg.1 - 33 7944 c.7720C>A c.(7720-7722)CCC>ACC p.P2574T TTN_uc010zfh.1_Missense_Mutation_p.P2528T|TTN_uc010zfi.1_Missense_Mutation_p.P2528T|TTN_uc010zfj.1_Missense_Mutation_p.P2528T|TTN_uc002unb.2_Missense_Mutation_p.P2574T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2574 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) TTAGAACTGGGCTTGATTTCC 0.358 7 34 --- --- --- --- PASS NEUROD1 4760 broad.mit.edu 37 2 182543312 182543312 + Silent SNP A T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:182543312A>T uc002uof.2 - 2 512 c.276T>A c.(274-276)ACT>ACA p.T92T CERKL_uc002uod.1_Intron NM_002500 NP_002491 Q13562 NDF1_HUMAN neurogenic differentiation 1 92 Nuclear localization signal (Potential). amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.088) GGCGAGCCTTAGTCATCTTCT 0.418 13 63 --- --- --- --- PASS CCDC150 284992 broad.mit.edu 37 2 197577399 197577399 + Splice_Site SNP A T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:197577399A>T uc002utp.1 + 17 1939 c.1804_splice c.e17-2 p.A602_splice CCDC150_uc010zgs.1_Intron|CCDC150_uc010zgt.1_Intron NM_001080539 NP_001074008 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 0 TTTGAATTAAAGGCAAACTCA 0.388 8 13 --- --- --- --- PASS ZDBF2 57683 broad.mit.edu 37 2 207171597 207171597 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:207171597G>T uc002vbp.2 + 5 2595 c.2345G>T c.(2344-2346)AGC>ATC p.S782I NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 782 nucleic acid binding|zinc ion binding ovary(3) 3 GAAGATGAGAGCTGTGAGTCA 0.408 55 106 --- --- --- --- PASS SPEG 10290 broad.mit.edu 37 2 220332025 220332025 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:220332025G>T uc010fwg.2 + 10 3011 c.3011G>T c.(3010-3012)CGT>CTT p.R1004L NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 1004 Ig-like 4. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) TGGCTGTGCCGTGGCCGCCTG 0.627 18 90 --- --- --- --- PASS SH3BP4 23677 broad.mit.edu 37 2 235950095 235950095 + Missense_Mutation SNP G T T rs138703238 TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:235950095G>T uc002vvp.2 + 4 1075 c.682G>T c.(682-684)GCA>TCA p.A228S SH3BP4_uc010fym.2_Missense_Mutation_p.A228S|SH3BP4_uc002vvq.2_Missense_Mutation_p.A228S NM_014521 NP_055336 Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 228 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding skin(3)|ovary(1) 4 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) CGGACTCCACGCAGAGCCGCC 0.572 31 131 --- --- --- --- PASS ESPNL 339768 broad.mit.edu 37 2 239013419 239013419 + Missense_Mutation SNP T C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr2:239013419T>C uc002vxq.3 + 3 718 c.608T>C c.(607-609)CTC>CCC p.L203P NM_194312 NP_919288 Q6ZVH7 ESPNL_HUMAN espin-like 203 pancreas(1) 1 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) CTTCGTGCTCTCGATGGCATG 0.672 7 7 --- --- --- --- PASS COLQ 8292 broad.mit.edu 37 3 15499735 15499735 + Silent SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr3:15499735G>A uc003bzx.2 - 13 1038 c.912C>T c.(910-912)TAC>TAT p.Y304Y COLQ_uc003bzv.2_Silent_p.Y294Y|COLQ_uc003bzz.2_Silent_p.Y295Y|COLQ_uc010heo.2_Silent_p.Y270Y|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_Silent_p.Y163Y|COLQ_uc003cad.1_RNA NM_005677 NP_005668 Q9Y215 COLQ_HUMAN acetylcholinesterase collagen-like tail subunit 304 acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft 0 CAGATTCCCCGTAGGAAGGGT 0.527 38 85 --- --- --- --- PASS KBTBD5 131377 broad.mit.edu 37 3 42728190 42728190 + Silent SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr3:42728190G>A uc003clv.1 + 1 1180 c.1080G>A c.(1078-1080)CAG>CAA p.Q360Q NM_152393 NP_689606 Q2TBA0 KBTB5_HUMAN kelch repeat and BTB (POZ) domain containing 5 360 Kelch 1. ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.214) AGGAGAACCAGGTCTTCGTGG 0.592 19 27 --- --- --- --- PASS VPRBP 9730 broad.mit.edu 37 3 51475085 51475085 + Silent SNP T C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr3:51475085T>C uc003dbe.1 - 9 1197 c.1029A>G c.(1027-1029)CTA>CTG p.L343L NM_014703 NP_055518 Q9Y4B6 VPRBP_HUMAN HIV-1 Vpr binding protein 343 interspecies interaction between organisms cytoplasm|nucleus protein binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) ATATGGGAAGTAGCTGAAATG 0.378 9 6 --- --- --- --- PASS CADPS 8618 broad.mit.edu 37 3 62636531 62636531 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr3:62636531G>T uc003dll.2 - 5 1554 c.1194C>A c.(1192-1194)TTC>TTA p.F398L CADPS_uc003dlm.2_Missense_Mutation_p.F398L|CADPS_uc003dln.2_Missense_Mutation_p.F398L NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 398 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) CCTCCAATGAGAAAGACAGCA 0.483 15 52 --- --- --- --- PASS RYBP 23429 broad.mit.edu 37 3 72427648 72427648 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr3:72427648C>A uc003dpe.2 - 4 662 c.545G>T c.(544-546)GGG>GTG p.G182V NM_012234 NP_036366 Q8N488 RYBP_HUMAN RING1 and YY1 binding protein 192 Interaction with E4TF1B.|Ser-rich. apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding 0 Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232) CTGTTCTGACCCTGCACTGGA 0.542 19 9 --- --- --- --- PASS ROBO1 6091 broad.mit.edu 37 3 78987941 78987941 + Missense_Mutation SNP T G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr3:78987941T>G uc003dqe.2 - 4 517 c.309A>C c.(307-309)AAA>AAC p.K103N ROBO1_uc003dqb.2_Missense_Mutation_p.K64N|ROBO1_uc003dqc.2_Missense_Mutation_p.K64N|ROBO1_uc003dqd.2_Missense_Mutation_p.K64N NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 103 Extracellular (Potential).|Ig-like C2-type 1. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TCTCTCCCCCTTTGTACCATT 0.478 12 55 --- --- --- --- PASS CASR 846 broad.mit.edu 37 3 122002609 122002609 + Missense_Mutation SNP T C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr3:122002609T>C uc003eev.3 + 7 2180 c.1808T>C c.(1807-1809)ATC>ACC p.I603T CASR_uc003eew.3_Missense_Mutation_p.I613T NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 603 Extracellular (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GCCAAGGAGATCGAGTTTCTG 0.522 25 53 --- --- --- --- PASS RUVBL1 8607 broad.mit.edu 37 3 127842517 127842517 + Silent SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr3:127842517G>A uc003ekh.2 - 1 155 c.51C>T c.(49-51)TCC>TCT p.S17S RUVBL1_uc003ekf.2_Intron|RUVBL1_uc010hss.2_Silent_p.S17S NM_003707 NP_003698 Q9Y265 RUVB1_HUMAN RuvB-like 1 17 cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|DNA helicase activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.181) CGTGGCTGTGGGAGGCGATGC 0.622 4 85 --- --- --- --- PASS CPNE4 131034 broad.mit.edu 37 3 131283166 131283166 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr3:131283166C>A uc003eok.2 - 11 1390 c.955G>T c.(955-957)GGG>TGG p.G319W CPNE4_uc011blq.1_Missense_Mutation_p.G337W|CPNE4_uc003eol.2_Missense_Mutation_p.G337W|CPNE4_uc003eom.2_Missense_Mutation_p.G319W NM_130808 NP_570720 Q96A23 CPNE4_HUMAN copine IV 319 VWFA. upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 CTGGGGTCCCCGTTTGAGGCA 0.428 27 62 --- --- --- --- PASS LRRIQ4 344657 broad.mit.edu 37 3 169539929 169539929 + Missense_Mutation SNP A G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr3:169539929A>G uc003fgb.2 + 1 220 c.220A>G c.(220-222)AGG>GGG p.R74G NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 74 LRR 3. 0 AAAGAACATCAGGGTCCTCTA 0.498 54 103 --- --- --- --- PASS SPATA16 83893 broad.mit.edu 37 3 172674469 172674469 + Missense_Mutation SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr3:172674469G>A uc003fin.3 - 6 1237 c.1079C>T c.(1078-1080)ACA>ATA p.T360I NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 360 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) AATCTTACCTGTGTACATATA 0.294 13 48 --- --- --- --- PASS ATP11B 23200 broad.mit.edu 37 3 182615170 182615170 + Missense_Mutation SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr3:182615170C>T uc003flb.2 + 27 3385 c.3128C>T c.(3127-3129)TCC>TTC p.S1043F ATP11B_uc003flc.2_Missense_Mutation_p.S627F|ATP11B_uc010hxf.1_Missense_Mutation_p.S205F|ATP11B_uc010hxg.2_RNA|ATP11B_uc010hxh.1_5'Flank NM_014616 NP_055431 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 1043 Helical; (Potential). aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) TTTGTATTTTCCTTGTTTTAT 0.294 31 167 --- --- --- --- PASS CLCN2 1181 broad.mit.edu 37 3 184074816 184074816 + Silent SNP C G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr3:184074816C>G uc003foi.2 - 10 1174 c.1050G>C c.(1048-1050)CGG>CGC p.R350R CLCN2_uc003foh.2_5'UTR|CLCN2_uc010hya.1_Silent_p.R350R|CLCN2_uc011brl.1_Silent_p.R350R|CLCN2_uc011brm.1_Silent_p.R306R|CLCN2_uc011brn.1_Silent_p.R350R NM_004366 NP_004357 P51788 CLCN2_HUMAN chloride channel 2 350 chloride channel complex voltage-gated chloride channel activity 0 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) TTTTCTGCTTCCGCATCACCT 0.532 6 29 --- --- --- --- PASS PROM1 8842 broad.mit.edu 37 4 16035000 16035000 + Nonsense_Mutation SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr4:16035000G>A uc003goo.2 - 4 648 c.436C>T c.(436-438)CGA>TGA p.R146* PROM1_uc003gor.2_Nonsense_Mutation_p.R146*|PROM1_uc003gos.2_Nonsense_Mutation_p.R137*|PROM1_uc003got.2_Nonsense_Mutation_p.R146*|PROM1_uc003gou.2_Nonsense_Mutation_p.R137*|PROM1_uc003gop.2_Nonsense_Mutation_p.R137*|PROM1_uc003goq.3_Nonsense_Mutation_p.R137*|PROM1_uc010iec.1_Nonsense_Mutation_p.R24* NM_006017 NP_006008 O43490 PROM1_HUMAN prominin 1 isoform 1 146 Cytoplasmic (Potential). camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1) 7 TCCTTCTGTCGCTGGTGCATT 0.433 9 56 --- --- --- --- PASS YIPF7 285525 broad.mit.edu 37 4 44638039 44638039 + Silent SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr4:44638039C>A uc010ifx.1 - 3 269 c.252G>T c.(250-252)TCG>TCT p.S84S YIPF7_uc010ify.1_Silent_p.S84S NM_182592 NP_872398 Q8N8F6 YIPF7_HUMAN Yip1 domain family, member 7 84 endoplasmic reticulum membrane|integral to membrane 0 CTGCGTAACCCGATGACATGA 0.413 24 25 --- --- --- --- PASS ATP10D 57205 broad.mit.edu 37 4 47514670 47514670 + Missense_Mutation SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr4:47514670G>A uc003gxk.1 + 2 277 c.113G>A c.(112-114)CGC>CAC p.R38H ATP10D_uc003gxj.3_Missense_Mutation_p.R38H NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 38 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 GCCTGTGGGCGCAAGTCCTCT 0.542 4 71 --- --- --- --- PASS CWH43 80157 broad.mit.edu 37 4 49005812 49005812 + Missense_Mutation SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr4:49005812G>A uc003gyv.2 + 7 1045 c.863G>A c.(862-864)TGT>TAT p.C288Y CWH43_uc011bzl.1_Missense_Mutation_p.C261Y NM_025087 NP_079363 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog 288 Helical; (Potential). GPI anchor biosynthetic process integral to membrane skin(2)|ovary(1) 3 GTGTCTGGCTGTGTCTTCGCC 0.502 52 49 --- --- --- --- PASS TECRL 253017 broad.mit.edu 37 4 65180419 65180419 + Silent SNP T C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr4:65180419T>C uc003hcv.2 - 5 607 c.498A>G c.(496-498)CCA>CCG p.P166P TECRL_uc003hcw.2_Silent_p.P166P NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 166 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 CATATATACATGGGATCCTCA 0.289 3 77 --- --- --- --- PASS MIR1269 100302177 broad.mit.edu 37 4 67142549 67142549 + RNA SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr4:67142549C>A hsa-mir-1269|MI0006406 + c.8C>A 0 cactggattgcctagaccagg 0.000 80 83 --- --- --- --- PASS SLC4A4 8671 broad.mit.edu 37 4 72316958 72316958 + Missense_Mutation SNP A G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr4:72316958A>G uc003hfy.2 + 11 1379 c.1262A>G c.(1261-1263)CAT>CGT p.H421R SLC4A4_uc010iic.2_Missense_Mutation_p.H421R|SLC4A4_uc010iib.2_Missense_Mutation_p.H421R|SLC4A4_uc003hfz.2_Missense_Mutation_p.H421R|SLC4A4_uc003hgc.3_Missense_Mutation_p.H377R|SLC4A4_uc010iid.2_5'UTR|SLC4A4_uc003hga.2_Missense_Mutation_p.H299R|SLC4A4_uc003hgb.3_Missense_Mutation_p.H377R NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 421 Cytoplasmic (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) GATACGCCCCATGATGGAGGT 0.443 45 41 --- --- --- --- PASS MTTP 4547 broad.mit.edu 37 4 100522794 100522794 + Missense_Mutation SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr4:100522794G>A uc003hvc.3 + 11 1523 c.1267G>A c.(1267-1269)GAC>AAC p.D423N MTTP_uc011cej.1_Missense_Mutation_p.D450N NM_000253 NP_000244 P55157 MTP_HUMAN microsomal triglyceride transfer protein large 423 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) TGGTAGCAGTGACATCAGAGA 0.358 60 76 --- --- --- --- PASS AGXT2L1 64850 broad.mit.edu 37 4 109674095 109674095 + Missense_Mutation SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr4:109674095C>T uc003hzc.2 - 6 755 c.574G>A c.(574-576)GAA>AAA p.E192K AGXT2L1_uc010imc.2_Missense_Mutation_p.E186K|AGXT2L1_uc011cfm.1_Missense_Mutation_p.E152K|AGXT2L1_uc011cfn.1_Missense_Mutation_p.E119K|AGXT2L1_uc011cfo.1_Missense_Mutation_p.E134K NM_031279 NP_112569 Q8TBG4 AT2L1_HUMAN alanine-glyoxylate aminotransferase 2-like 1 192 cellular amino acid metabolic process mitochondrion alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000281) TTCTTCACTTCATCTGCATAA 0.363 42 44 --- --- --- --- PASS ANP32C 23520 broad.mit.edu 37 4 165118178 165118178 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr4:165118178C>A uc011cjk.1 - 1 686 c.686G>T c.(685-687)AGG>ATG p.R229M MARCH1_uc003iqs.1_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN acidic nuclear phosphoprotein 32C 229 0 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) cttctgacccctttcttcttc 0.050 20 16 --- --- --- --- PASS DDX60 55601 broad.mit.edu 37 4 169204618 169204618 + Silent SNP C G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr4:169204618C>G uc003irp.2 - 13 1993 c.1701G>C c.(1699-1701)GGG>GGC p.G567G NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 567 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TGCTCTTGGGCCCACTAAAAT 0.343 3 70 --- --- --- --- PASS WDR17 116966 broad.mit.edu 37 4 177017731 177017731 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr4:177017731C>A uc003iuj.2 + 2 217 c.61C>A c.(61-63)CAA>AAA p.Q21K WDR17_uc003iuk.2_Intron|WDR17_uc003ium.3_Intron|WDR17_uc003iul.1_Intron NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 21 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TGAAGGACTACAAAGAGTAAG 0.338 22 34 --- --- --- --- PASS KIAA0947 23379 broad.mit.edu 37 5 5465333 5465333 + Silent SNP A C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr5:5465333A>C uc003jdm.3 + 13 6108 c.5886A>C c.(5884-5886)ACA>ACC p.T1962T NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 1962 ovary(1)|central_nervous_system(1) 2 TTAGCACAACAAAAAAGGTAT 0.383 7 5 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 22078744 22078744 + Silent SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr5:22078744C>A uc010iuc.2 - 2 500 c.42G>T c.(40-42)CTG>CTT p.L14L CDH12_uc011cno.1_Silent_p.L14L|CDH12_uc003jgk.2_Silent_p.L14L NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 14 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 CTCCATCAAACAGAACCCAGA 0.453 HNSCC(59;0.17) 87 174 --- --- --- --- PASS GDNF 2668 broad.mit.edu 37 5 37816199 37816199 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr5:37816199C>A uc011cpi.1 - 3 390 c.190G>T c.(190-192)GTC>TTC p.V64F GDNF_uc011cpc.1_Intron|GDNF_uc011cpd.1_Missense_Mutation_p.V12F|GDNF_uc011cpe.1_Missense_Mutation_p.V38F|GDNF_uc011cpf.1_Missense_Mutation_p.V38F|GDNF_uc011cpg.1_Missense_Mutation_p.V81F|GDNF_uc011cph.1_Missense_Mutation_p.V55F NM_000514 NP_000505 P39905 GDNF_HUMAN glial cell derived neurotrophic factor isoform 1 64 adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development extracellular region growth factor activity|protein homodimerization activity 0 all_lung(31;0.00118) AAATCCATGACATCATCGAAC 0.413 35 59 --- --- --- --- PASS IPO11 51194 broad.mit.edu 37 5 61779058 61779058 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr5:61779058G>T uc003jtc.2 + 10 1149 c.959G>T c.(958-960)TGT>TTT p.C320F IPO11_uc011cqr.1_Missense_Mutation_p.C360F|IPO11_uc003jtb.1_Missense_Mutation_p.C320F NM_016338 NP_057422 Q9UI26 IPO11_HUMAN Ran binding protein 11 isoform 2 320 HEAT 3. cytoplasm|nucleus protein binding lung(2)|skin(2) 4 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) ATTGTCCAATGTATGAATCTT 0.294 22 23 --- --- --- --- PASS ADAMTS6 11174 broad.mit.edu 37 5 64483906 64483906 + Silent SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr5:64483906G>T uc003jtp.2 - 22 3661 c.2847C>A c.(2845-2847)GTC>GTA p.V949V ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 949 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) GCTCTTTTTCGACAGGCCGGT 0.507 66 74 --- --- --- --- PASS KCNN2 3781 broad.mit.edu 37 5 113740157 113740157 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr5:113740157C>A uc003kqo.2 + 3 1062 c.605C>A c.(604-606)GCA>GAA p.A202E NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 202 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) GACAATGGAGCAGATGACTGG 0.383 58 66 --- --- --- --- PASS PCDHGA2 56113 broad.mit.edu 37 5 140720231 140720231 + Missense_Mutation SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr5:140720231C>T uc003ljk.1 + 1 1878 c.1693C>T c.(1693-1695)CCT>TCT p.P565S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.P565S NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 565 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATCCTGTACCCTGCCTTCCC 0.632 73 63 --- --- --- --- PASS FAM71B 153745 broad.mit.edu 37 5 156590281 156590281 + Missense_Mutation SNP C G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr5:156590281C>G uc003lwn.2 - 2 1095 c.995G>C c.(994-996)GGT>GCT p.G332A NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 332 nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTTGGCAGCACCTGCCATGGA 0.562 9 159 --- --- --- --- PASS DPCR1 135656 broad.mit.edu 37 6 30919763 30919763 + Silent SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr6:30919763G>A uc003nsg.2 + 2 3522 c.3522G>A c.(3520-3522)ACG>ACA p.T1174T NM_080870 NP_543146 Q3MIW9 DPCR1_HUMAN diffuse panbronchiolitis critical region 1 305 Extracellular (Potential).|Thr-rich. integral to membrane 0 AAAAGACCACGTCAACCACAG 0.468 5 63 --- --- --- --- PASS SLC26A8 116369 broad.mit.edu 37 6 35922948 35922948 + Missense_Mutation SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr6:35922948C>T uc003olm.2 - 17 2324 c.2213G>A c.(2212-2214)GGG>GAG p.G738E SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Missense_Mutation_p.G320E|SLC26A8_uc003oln.2_Missense_Mutation_p.G738E|SLC26A8_uc003oll.2_Missense_Mutation_p.G633E NM_052961 NP_443193 Q96RN1 S26A8_HUMAN solute carrier family 26, member 8 isoform a 738 Interaction with RACGAP1.|STAS.|Cytoplasmic (Potential). cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity ovary(2) 2 TACGACTAACCCCCGTGAATC 0.527 37 43 --- --- --- --- PASS PRIM2 5558 broad.mit.edu 37 6 57467142 57467142 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr6:57467142C>A uc003pdx.2 + 12 1170 c.1083C>A c.(1081-1083)GAC>GAA p.D361E NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 361 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) AGAGGACAGACTATACACCTT 0.438 9 103 --- --- --- --- PASS B3GAT2 135152 broad.mit.edu 37 6 71666003 71666003 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr6:71666003C>A uc003pfv.2 - 1 786 c.130G>T c.(130-132)GCG>TCG p.A44S B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.A44S NM_080742 NP_542780 Q9NPZ5 B3GA2_HUMAN beta-1,3-glucuronyltransferase 2 44 Lumenal (Potential). carbohydrate biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 CGGCCCACCGCGTAGGGAGAG 0.706 6 6 --- --- --- --- PASS SNAP91 9892 broad.mit.edu 37 6 84417641 84417641 + Silent SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr6:84417641C>A uc011dze.1 - 2 323 c.6G>T c.(4-6)TCG>TCT p.S2S SNAP91_uc003pkb.2_5'UTR|SNAP91_uc003pkc.2_Silent_p.S2S|SNAP91_uc003pkd.2_Silent_p.S2S|SNAP91_uc003pka.2_Silent_p.S2S|SNAP91_uc011dzf.1_5'UTR NM_014841 NP_055656 O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa homolog 2 clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding ovary(1) 1 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) GCGTTTGGCCCGACATCTTCT 0.587 24 13 --- --- --- --- PASS GPRC6A 222545 broad.mit.edu 37 6 117113452 117113452 + Silent SNP G C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr6:117113452G>C uc003pxj.1 - 6 2656 c.2634C>G c.(2632-2634)GTC>GTG p.V878V GPRC6A_uc003pxk.1_Silent_p.V703V|GPRC6A_uc003pxl.1_Silent_p.V807V NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 878 Cytoplasmic (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TGGTCATTGTGACATTGCCGC 0.478 56 47 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129612857 129612857 + Missense_Mutation SNP A G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr6:129612857A>G uc003qbn.2 + 20 2953 c.2848A>G c.(2848-2850)AAA>GAA p.K950E LAMA2_uc003qbo.2_Missense_Mutation_p.K950E NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 950 Laminin EGF-like 9. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GAGATGTGACAAATGCAAGGT 0.443 28 22 --- --- --- --- PASS AGPAT4 56895 broad.mit.edu 37 6 161587397 161587397 + Silent SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr6:161587397C>T uc003qtr.1 - 3 458 c.231G>A c.(229-231)ACG>ACA p.T77T AGPAT4_uc003qts.1_Intron|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_RNA|AGPAT4_uc011egc.1_Silent_p.T77T|AGPAT4_uc011egd.1_Silent_p.T15T|AGPAT4_uc011ege.1_Intron NM_020133 NP_064518 Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 77 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding 0 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) CGCGCGGGTCCGTGAAGATGG 0.527 23 32 --- --- --- --- PASS INTS1 26173 broad.mit.edu 37 7 1527456 1527456 + Missense_Mutation SNP T C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr7:1527456T>C uc003skn.2 - 19 2557 c.2456A>G c.(2455-2457)AAG>AGG p.K819R INTS1_uc003skp.1_Missense_Mutation_p.K166R NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 819 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) GATGGTCTGCTTGGTGGACGC 0.692 18 62 --- --- --- --- PASS STK31 56164 broad.mit.edu 37 7 23757098 23757098 + Splice_Site SNP A G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr7:23757098A>G uc003sws.3 + 4 218 c.151_splice c.e4-2 p.S51_splice STK31_uc003swt.3_Splice_Site_p.S28_splice|STK31_uc011jze.1_Splice_Site_p.S51_splice|STK31_uc010kuq.2_Splice_Site_p.S28_splice NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 TAATCTTTCTAGAGTATCAAT 0.353 13 28 --- --- --- --- PASS NFE2L3 9603 broad.mit.edu 37 7 26224208 26224208 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr7:26224208C>A uc003sxq.2 + 4 1162 c.890C>A c.(889-891)TCT>TAT p.S297Y NM_004289 NP_004280 Q9Y4A8 NF2L3_HUMAN nuclear factor erythroid 2-like 3 297 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity skin(3)|ovary(1) 4 GGCATGAATTCTTCAGCACAT 0.403 18 166 --- --- --- --- PASS PLEKHA8 84725 broad.mit.edu 37 7 30101578 30101578 + Silent SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr7:30101578C>T uc003tam.1 + 11 1255 c.1164C>T c.(1162-1164)CAC>CAT p.H388H PLEKHA8_uc003tao.2_Silent_p.H272H|PLEKHA8_uc003tap.1_Silent_p.H388H|PLEKHA8_uc003tan.2_Silent_p.H388H NM_032639 NP_116028 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A 388 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(3)|ovary(1) 4 TAGTGCTGCACGAAGTGGAGG 0.473 OREG0017934 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 30 --- --- --- --- PASS INMT 11185 broad.mit.edu 37 7 30793447 30793447 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr7:30793447C>A uc003tbs.1 + 2 271 c.255C>A c.(253-255)GAC>GAA p.D85E FAM188B_uc010kwe.2_5'UTR|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Missense_Mutation_p.D84E NM_006774 NP_006765 O95050 INMT_HUMAN indolethylamine N-methyltransferase 85 S-adenosyl-L-methionine binding. cytoplasm amine N-methyltransferase activity 0 CTCTCTCCGACTTTACCGACC 0.567 105 172 --- --- --- --- PASS BBS9 27241 broad.mit.edu 37 7 33407434 33407434 + Missense_Mutation SNP A T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr7:33407434A>T uc003tdn.1 + 17 2262 c.1749A>T c.(1747-1749)TTA>TTT p.L583F BBS9_uc003tdo.1_Missense_Mutation_p.L548F|BBS9_uc003tdp.1_Missense_Mutation_p.L578F|BBS9_uc003tdq.1_Missense_Mutation_p.L543F|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.L107F|BBS9_uc003tds.1_Missense_Mutation_p.L6F|BBS9_uc011kao.1_Missense_Mutation_p.L461F NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 583 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) TTCACTTCTTAGGAGGTGCTC 0.363 Bardet-Biedl_syndrome 22 111 --- --- --- --- PASS ADCY1 107 broad.mit.edu 37 7 45725649 45725649 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr7:45725649C>A uc003tne.3 + 13 2180 c.2162C>A c.(2161-2163)ACC>AAC p.T721N NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 721 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GCCCTGCCCACCCTGCCCTGC 0.637 17 34 --- --- --- --- PASS UPP1 7378 broad.mit.edu 37 7 48146663 48146663 + Silent SNP C G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr7:48146663C>G uc003toj.2 + 8 1159 c.630C>G c.(628-630)ACC>ACG p.T210T UPP1_uc003tok.2_Silent_p.T210T|UPP1_uc003tol.2_Silent_p.T210T|UPP1_uc011kch.1_Silent_p.T3T|UPP1_uc003ton.2_Silent_p.T73T|UPP1_uc003too.2_Silent_p.T73T NM_181597 NP_853628 Q16831 UPP1_HUMAN uridine phosphorylase 1 210 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity 0 CCATGTGCACCTTGGACTTCT 0.577 26 42 --- --- --- --- PASS GRB10 2887 broad.mit.edu 37 7 50680468 50680468 + Silent SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr7:50680468C>A uc003tpi.2 - 10 1195 c.1164G>T c.(1162-1164)ACG>ACT p.T388T GRB10_uc003tph.3_Silent_p.T330T|GRB10_uc003tpj.2_Silent_p.T342T|GRB10_uc003tpk.2_Silent_p.T388T|GRB10_uc010kzb.2_Silent_p.T330T|GRB10_uc003tpl.2_Silent_p.T382T|GRB10_uc003tpm.2_Silent_p.T330T|GRB10_uc003tpn.2_Silent_p.T330T NM_005311 NP_005302 Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 isoform 388 PH. insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity lung(3)|ovary(2)|upper_aerodigestive_tract(1) 6 Glioma(55;0.08)|all_neural(89;0.245) TCATCCAGCACGTCCTGGTTT 0.473 Russell-Silver_syndrome 8 35 --- --- --- --- PASS HIP1 3092 broad.mit.edu 37 7 75228545 75228545 + Silent SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr7:75228545G>A uc003uds.1 - 2 182 c.141C>T c.(139-141)GCC>GCT p.A47A NM_005338 NP_005329 O00291 HIP1_HUMAN huntingtin interacting protein 1 47 ENTH. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1) 8 GCGTATTAATGGCCTTATTGA 0.502 T PDGFRB CMML 29 142 --- --- --- --- PASS ZAN 7455 broad.mit.edu 37 7 100364844 100364844 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr7:100364844C>A uc003uwj.2 + 25 4989 c.4824C>A c.(4822-4824)GAC>GAA p.D1608E ZAN_uc003uwk.2_Missense_Mutation_p.D1608E|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Missense_Mutation_p.D185E NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 1608 Extracellular (Potential).|VWFD 2. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CAGTCTTTGACCTCAGCATCT 0.577 9 45 --- --- --- --- PASS ATXN7L1 222255 broad.mit.edu 37 7 105516902 105516902 + Missense_Mutation SNP T C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr7:105516902T>C uc003vde.2 - 1 130 c.103A>G c.(103-105)AAA>GAA p.K35E ATXN7L1_uc003vdi.2_Missense_Mutation_p.K35E|CDHR3_uc003vdk.2_5'Flank|uc003vdj.1_5'Flank NM_020725 NP_065776 Q9ULK2 AT7L1_HUMAN ataxin 7-like 1 isoform 1 35 0 CTGGGCACTTTGCGATCCAGT 0.582 5 29 --- --- --- --- PASS PIK3CG 5294 broad.mit.edu 37 7 106508148 106508148 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr7:106508148C>A uc003vdv.3 + 2 227 c.142C>A c.(142-144)CAG>AAG p.Q48K PIK3CG_uc003vdu.2_Missense_Mutation_p.Q48K|PIK3CG_uc003vdw.2_Missense_Mutation_p.Q48K NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 48 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 GCCCACCAGCCAGCGCAAATG 0.672 8 53 --- --- --- --- PASS FAM3C 10447 broad.mit.edu 37 7 121004196 121004196 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr7:121004196C>A uc003vjx.2 - 6 567 c.319G>T c.(319-321)GCC>TCC p.A107S FAM3C_uc010lkm.2_Missense_Mutation_p.A107S NM_014888 NP_055703 Q92520 FAM3C_HUMAN family with sequence similarity 3, member C 107 multicellular organismal development cytoplasmic membrane-bounded vesicle|extracellular region cytokine activity 0 all_neural(327;0.117) TTTGCCAAGGCAACATTGATC 0.318 6 48 --- --- --- --- PASS PTPRZ1 5803 broad.mit.edu 37 7 121651116 121651116 + Silent SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr7:121651116C>T uc003vjy.2 + 12 2411 c.2016C>T c.(2014-2016)AGC>AGT p.S672S PTPRZ1_uc003vjz.2_Silent_p.S672S|PTPRZ1_uc011knt.1_Silent_p.S122S NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 672 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 GCAGAGAGAGCTTTCTCCAGA 0.463 13 64 --- --- --- --- PASS IQUB 154865 broad.mit.edu 37 7 123152383 123152383 + Missense_Mutation SNP T A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr7:123152383T>A uc003vkn.2 - 2 589 c.12A>T c.(10-12)CAA>CAT p.Q4H IQUB_uc003vko.2_Missense_Mutation_p.Q4H|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Missense_Mutation_p.Q4H|IQUB_uc003vkq.2_Missense_Mutation_p.Q4H NM_178827 NP_849149 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 4 Q -> R (in Ref. 1; BAC04074). ovary(3)|large_intestine(1) 4 ACTTCTCCTGTTGATTAGACA 0.328 6 39 --- --- --- --- PASS GRM8 2918 broad.mit.edu 37 7 126173479 126173479 + Missense_Mutation SNP C G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr7:126173479C>G uc003vlr.2 - 8 2268 c.1957G>C c.(1957-1959)GTC>CTC p.V653L GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.V653L|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 653 Helical; Name=3; (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) CCTAGGAAGACCCGTCGGAAG 0.448 HNSCC(24;0.065) 37 65 --- --- --- --- PASS EXOC4 60412 broad.mit.edu 37 7 133059665 133059665 + Missense_Mutation SNP A T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr7:133059665A>T uc003vrk.2 + 7 1126 c.1091A>T c.(1090-1092)CAG>CTG p.Q364L EXOC4_uc011kpo.1_Missense_Mutation_p.Q263L|EXOC4_uc003vri.2_Missense_Mutation_p.Q364L|EXOC4_uc003vrj.2_Missense_Mutation_p.Q364L NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 364 vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) GGATACCTGCAGGACACTGTA 0.458 10 71 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151884527 151884527 + Missense_Mutation SNP C G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr7:151884527C>G uc003wla.2 - 33 5047 c.4828G>C c.(4828-4830)GAT>CAT p.D1610H MLL3_uc003wkz.2_Missense_Mutation_p.D671H NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1610 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TTGTTAGGATCACTTGCCATT 0.363 N medulloblastoma 104 200 --- --- --- --- PASS ST18 9705 broad.mit.edu 37 8 53084559 53084559 + Missense_Mutation SNP C G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr8:53084559C>G uc003xqz.2 - 5 1018 c.862G>C c.(862-864)GTA>CTA p.V288L ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.V253L|ST18_uc011lds.1_Missense_Mutation_p.V193L|ST18_uc003xra.2_Missense_Mutation_p.V288L|ST18_uc003xrb.2_Missense_Mutation_p.V288L NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 288 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TCCGTCATTACTGCCAGGCTC 0.537 54 57 --- --- --- --- PASS RB1CC1 9821 broad.mit.edu 37 8 53570240 53570240 + Missense_Mutation SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr8:53570240C>T uc003xre.3 - 15 2707 c.2149G>A c.(2149-2151)GTT>ATT p.V717I RB1CC1_uc003xrf.3_Missense_Mutation_p.V717I NM_014781 NP_055596 Q8TDY2 RBCC1_HUMAN Rb1-inducible coiled coil protein 1 isoform 1 717 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 11 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) TCTAAAGAAACTTGGTGAATA 0.348 54 36 --- --- --- --- PASS PREX2 80243 broad.mit.edu 37 8 68934375 68934375 + Missense_Mutation SNP G C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr8:68934375G>C uc003xxv.1 + 4 468 c.441G>C c.(439-441)TTG>TTC p.L147F PREX2_uc003xxu.1_Missense_Mutation_p.L147F|PREX2_uc011lez.1_Missense_Mutation_p.L82F NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 147 DH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 CATTTCTTTTGGTAAGTGTAT 0.338 24 30 --- --- --- --- PASS DCAF4L2 138009 broad.mit.edu 37 8 88885462 88885462 + Silent SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr8:88885462C>A uc003ydz.2 - 1 835 c.738G>T c.(736-738)GGG>GGT p.G246G NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 246 ovary(1) 1 CAAAGATCTCCCCAGAGCGAC 0.522 65 48 --- --- --- --- PASS RIPK2 8767 broad.mit.edu 37 8 90798854 90798854 + Missense_Mutation SNP A G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr8:90798854A>G uc003yee.2 + 9 1377 c.1063A>G c.(1063-1065)AGT>GGT p.S355G RIPK2_uc003yef.2_Missense_Mutation_p.S218G NM_003821 NP_003812 O43353 RIPK2_HUMAN receptor-interacting serine-threonine kinase 2 355 activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|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 ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.0474) CCATGAAAATAGTGGTTCTCC 0.318 11 140 --- --- --- --- PASS VPS13B 157680 broad.mit.edu 37 8 100454784 100454784 + Missense_Mutation SNP G C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr8:100454784G>C uc003yiv.2 + 23 3477 c.3366G>C c.(3364-3366)AAG>AAC p.K1122N VPS13B_uc003yiw.2_Missense_Mutation_p.K1122N|VPS13B_uc003yiu.1_Missense_Mutation_p.K1122N|VPS13B_uc003yix.1_Missense_Mutation_p.K592N NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1122 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CTCAAATAAAGATTATTAGTG 0.418 55 49 --- --- --- --- PASS GRHL2 79977 broad.mit.edu 37 8 102656426 102656426 + Missense_Mutation SNP C G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr8:102656426C>G uc010mbu.2 + 13 1915 c.1585C>G c.(1585-1587)CAG>GAG p.Q529E NM_024915 NP_079191 Q6ISB3 GRHL2_HUMAN transcription factor CP2-like 3 529 cytoplasm|nucleus DNA binding ovary(2)|skin(1) 3 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) GCCTTCAAAGCAGATGAAAGA 0.502 3 47 --- --- --- --- PASS EIF3E 3646 broad.mit.edu 37 8 109241415 109241415 + Missense_Mutation SNP T C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr8:109241415T>C uc003ymu.2 - 6 509 c.481A>G c.(481-483)ACA>GCA p.T161A EIF3E_uc003ymt.2_Missense_Mutation_p.T112A|EIF3E_uc003ymv.2_Missense_Mutation_p.T68A|EIF3E_uc010mci.1_Missense_Mutation_p.T161A NM_001568 NP_001559 P60228 EIF3E_HUMAN eukaryotic translation initiation factor 3, 161 Sufficient for interaction with TRIM27. negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|eukaryotic translation initiation factor 3 complex|PML body protein N-terminus binding ovary(2)|kidney(1) 3 OV - Ovarian serous cystadenocarcinoma(57;6.84e-10) TTTCTATCTGTTGCTGGAACC 0.363 40 45 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139163936 139163936 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr8:139163936C>A uc003yuy.2 - 13 2953 c.2782G>T c.(2782-2784)GGT>TGT p.G928C FAM135B_uc003yux.2_Missense_Mutation_p.G829C|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.G490C|FAM135B_uc003yvb.2_Missense_Mutation_p.G490C NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 928 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TGAGAGAGACCCTCAACCTCT 0.502 HNSCC(54;0.14) 91 75 --- --- --- --- PASS ZNF517 340385 broad.mit.edu 37 8 146033405 146033405 + Silent SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr8:146033405C>T uc003zed.1 + 5 1211 c.1104C>T c.(1102-1104)CAC>CAT p.H368H ZNF517_uc010mgd.1_Silent_p.H274H|ZNF517_uc003zee.1_RNA|ZNF517_uc011llm.1_Silent_p.H274H|ZNF517_uc003zef.1_Intron NM_213605 NP_998770 Q6ZMY9 ZN517_HUMAN zinc finger protein 517 368 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) ACCCGCCCCACGAGTGCCCGG 0.746 10 4 --- --- --- --- PASS MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr9:20414379G>A uc003zoe.2 - 5 724 c.465C>T c.(463-465)AGC>AGT p.S155S MLLT3_uc011lne.1_Silent_p.S123S|MLLT3_uc011lnf.1_Silent_p.S152S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Silent_p.S123S NM_004529 NP_004520 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.149 T MLL ALL 5 69 --- --- --- --- PASS GCNT1 2650 broad.mit.edu 37 9 79117766 79117766 + Missense_Mutation SNP A G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr9:79117766A>G uc010mpf.2 + 3 810 c.469A>G c.(469-471)AAA>GAA p.K157E GCNT1_uc010mpg.2_Missense_Mutation_p.K157E|GCNT1_uc010mph.2_Missense_Mutation_p.K157E|GCNT1_uc004akf.3_Missense_Mutation_p.K157E|GCNT1_uc010mpi.2_Missense_Mutation_p.K157E|GCNT1_uc004akh.3_Missense_Mutation_p.K157E NM_001490 NP_001481 Q02742 GCNT1_HUMAN beta-1,3-galactosyl-O-glycosyl-glycoprotein 157 Lumenal (Potential).|Catalytic (By similarity). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity 0 TGTGGACACAAAATCCGAGGA 0.438 105 31 --- --- --- --- PASS KIAA1529 57653 broad.mit.edu 37 9 100139102 100139102 + Nonsense_Mutation SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr9:100139102C>T uc011lut.1 + 49 6222 c.5449C>T c.(5449-5451)CAG>TAG p.Q1817* KIAA1529_uc004axe.1_Nonsense_Mutation_p.Q1623*|KIAA1529_uc004axg.1_Nonsense_Mutation_p.Q1678*|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Nonsense_Mutation_p.Q771* NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) CTGTACATCTCAGATAAAGGA 0.502 47 36 --- --- --- --- PASS ABCA1 19 broad.mit.edu 37 9 107549168 107549168 + Silent SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr9:107549168C>T uc004bcl.2 - 47 6607 c.6294G>A c.(6292-6294)GTG>GTA p.V2098V NIPSNAP3B_uc004bcj.1_Intron NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 2098 ABC transporter 2. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GAGATGTAAGCACTACTGATC 0.433 74 61 --- --- --- --- PASS IKBKAP 8518 broad.mit.edu 37 9 111640380 111640380 + Silent SNP T C C rs149038322 TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr9:111640380T>C uc004bdm.3 - 35 4270 c.3750A>G c.(3748-3750)GAA>GAG p.E1250E IKBKAP_uc004bdl.2_Silent_p.E901E|IKBKAP_uc011lwc.1_Silent_p.E1136E|IKBKAP_uc010mtq.2_Silent_p.E901E|IKBKAP_uc004bdk.2_Silent_p.E254E|IKBKAP_uc010mtp.2_RNA NM_003640 NP_003631 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene 1250 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 7 CCCTTCCTTGTTCATCAAACT 0.378 66 30 --- --- --- --- PASS ZFP37 7539 broad.mit.edu 37 9 115805750 115805750 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr9:115805750C>A uc004bgm.1 - 4 1176 c.1148G>T c.(1147-1149)GGG>GTG p.G383V ZFP37_uc011lwz.1_Missense_Mutation_p.G398V|ZFP37_uc011lxa.1_Missense_Mutation_p.G384V NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN zinc finger protein 37 homolog 383 C2H2-type 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 GAAGGTTTTCCCACATTCAGC 0.413 116 64 --- --- --- --- PASS ZFP37 7539 broad.mit.edu 37 9 115805751 115805751 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr9:115805751C>A uc004bgm.1 - 4 1175 c.1147G>T c.(1147-1149)GGG>TGG p.G383W ZFP37_uc011lwz.1_Missense_Mutation_p.G398W|ZFP37_uc011lxa.1_Missense_Mutation_p.G384W NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN zinc finger protein 37 homolog 383 C2H2-type 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 AAGGTTTTCCCACATTCAGCA 0.413 117 64 --- --- --- --- PASS COL5A1 1289 broad.mit.edu 37 9 137674557 137674557 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr9:137674557G>T uc004cfe.2 + 29 2857 c.2475G>T c.(2473-2475)AAG>AAT p.K825N NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 825 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TGGGCATCAAGGGTGATCGGG 0.597 157 78 --- --- --- --- PASS SNAPC4 6621 broad.mit.edu 37 9 139289762 139289762 + Missense_Mutation SNP C G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr9:139289762C>G uc004chh.2 - 4 468 c.459G>C c.(457-459)AAG>AAC p.K153N NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, 153 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGCCCGTGACCTTGTCCTTGA 0.592 8 63 --- --- --- --- PASS TAF3 83860 broad.mit.edu 37 10 7860771 7860771 + Silent SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr10:7860771C>T uc010qbd.1 + 1 99 c.99C>T c.(97-99)CTC>CTT p.L33L NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN RNA polymerase II transcription factor TAFII140 33 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding ovary(1) 1 CCTGCCACCTCCTCACGGACG 0.672 5 7 --- --- --- --- PASS USP6NL 9712 broad.mit.edu 37 10 11504657 11504657 + Missense_Mutation SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr10:11504657C>T uc001ikt.3 - 15 2591 c.2270G>A c.(2269-2271)AGC>AAC p.S757N USP6NL_uc001iks.1_Missense_Mutation_p.S774N NM_014688 NP_055503 Q92738 US6NL_HUMAN USP6 N-terminal like isoform 1 757 intracellular Rab GTPase activator activity 0 ATTGCCACGGCTAGCATCTCG 0.468 85 127 --- --- --- --- PASS ZWINT 11130 broad.mit.edu 37 10 58119839 58119839 + Missense_Mutation SNP T C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr10:58119839T>C uc001jjx.1 - 3 233 c.196A>G c.(196-198)ATC>GTC p.I66V ZWINT_uc001jjy.1_Missense_Mutation_p.I66V|ZWINT_uc001jka.1_Missense_Mutation_p.I66V|ZWINT_uc009xoy.1_Intron NM_007057 NP_008988 O95229 ZWINT_HUMAN ZW10 interactor isoform a 66 cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding 0 TGAGCCAGGATGTTCTGCAGG 0.557 26 41 --- --- --- --- PASS CYP2C18 1562 broad.mit.edu 37 10 96495057 96495057 + Missense_Mutation SNP G C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr10:96495057G>C uc001kjv.3 + 9 1655 c.1329G>C c.(1327-1329)ATG>ATC p.M443I CYP2C18_uc001kjw.3_Missense_Mutation_p.M384I|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Intron NM_000772 NP_000763 P33260 CP2CI_HUMAN cytochrome P450 family 2 subfamily C polypeptide 443 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(3)|lung(1)|skin(1) 5 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) TGGCCCGCATGGAGCTGTTTT 0.443 52 66 --- --- --- --- PASS SORCS1 114815 broad.mit.edu 37 10 108469059 108469059 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr10:108469059C>A uc001kym.2 - 7 1073 c.1065G>T c.(1063-1065)GAG>GAT p.E355D SORCS1_uc001kyl.2_Missense_Mutation_p.E355D|SORCS1_uc009xxs.2_Missense_Mutation_p.E355D|SORCS1_uc001kyn.1_Missense_Mutation_p.E355D|SORCS1_uc001kyo.2_Missense_Mutation_p.E355D NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 355 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TCCTGTTGGCCTCTGTACAGT 0.373 9 51 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1264226 1264226 + Missense_Mutation SNP C G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr11:1264226C>G uc009ycr.1 + 47 8321 c.8195C>G c.(8194-8196)CCC>CGC p.P2732R MUC5B_uc001ltb.2_Missense_Mutation_p.P2042R NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 2039 7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GTGGCCACCCCCTCCTCCACC 0.652 46 84 --- --- --- --- PASS TRIM6-TRIM34 445372 broad.mit.edu 37 11 5664869 5664869 + Missense_Mutation SNP A T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr11:5664869A>T uc001mbf.2 + 14 2703 c.2459A>T c.(2458-2460)CAG>CTG p.Q820L HBG2_uc001mak.1_Intron|TRIM34_uc001mbh.2_Missense_Mutation_p.Q466L|TRIM34_uc009yeq.2_Missense_Mutation_p.Q221L|TRIM34_uc001mbi.2_Missense_Mutation_p.Q466L|TRIM78P_uc009yer.2_Intron NM_001003819 NP_001003819 B2RNG4 B2RNG4_HUMAN tripartite motif-containing 6 and tripartite 820 intracellular zinc ion binding ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) TGCTTTTCTCAGCCTGTTTAT 0.423 92 258 --- --- --- --- PASS CCKBR 887 broad.mit.edu 37 11 6291981 6291981 + Silent SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr11:6291981C>T uc001mcp.2 + 4 952 c.759C>T c.(757-759)GGC>GGT p.G253G CCKBR_uc001mcq.2_Silent_p.G181G|CCKBR_uc001mcr.2_Silent_p.G253G|CCKBR_uc001mcs.2_Silent_p.G253G|CCKBR_uc001mct.1_5'Flank NM_176875 NP_795344 P32239 GASR_HUMAN cholecystokinin B receptor 253 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding lung(5)|ovary(2)|breast(1) 8 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) GCTTTGACGGCGACAGTGACA 0.597 28 87 --- --- --- --- PASS MUC15 143662 broad.mit.edu 37 11 26584686 26584686 + Missense_Mutation SNP A T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr11:26584686A>T uc001mqx.2 - 3 1087 c.821T>A c.(820-822)CTT>CAT p.L274H ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.L301H|MUC15_uc001mqy.2_Intron NM_145650 NP_663625 Q8N387 MUC15_HUMAN mucin 15 isoform b 274 Cytoplasmic (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 GTCGTCATAAAGTCGCCGATG 0.423 46 101 --- --- --- --- PASS FIBIN 387758 broad.mit.edu 37 11 27016499 27016499 + Silent SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr11:27016499C>T uc001mrd.2 + 1 872 c.426C>T c.(424-426)AGC>AGT p.S142S NM_203371 NP_976249 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog precursor 142 extracellular region|Golgi apparatus 0 AGCTGGAGAGCAAGTTCAAGC 0.592 39 63 --- --- --- --- PASS OR10AG1 282770 broad.mit.edu 37 11 55735108 55735108 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr11:55735108G>T uc010rit.1 - 1 832 c.832C>A c.(832-834)CCT>ACT p.P278T NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 278 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) TATATAATAGGATTCAAAGTT 0.343 33 56 --- --- --- --- PASS OR5F1 338674 broad.mit.edu 37 11 55761176 55761176 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr11:55761176C>A uc010riv.1 - 1 926 c.926G>T c.(925-927)AGG>ATG p.R309M NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 309 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) GGAAGAGGTCCTTTTCCTGCT 0.353 15 45 --- --- --- --- PASS OR5M3 219482 broad.mit.edu 37 11 56237489 56237489 + Missense_Mutation SNP T C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr11:56237489T>C uc010rjk.1 - 1 485 c.485A>G c.(484-486)TAC>TGC p.Y162C NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, 162 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GTACAAGCCGTAAGTCCATAA 0.403 5 185 --- --- --- --- PASS OR9G4 283189 broad.mit.edu 37 11 56511019 56511019 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr11:56511019G>T uc010rjo.1 - 1 269 c.269C>A c.(268-270)TCT>TAT p.S90Y NM_001005284 NP_001005284 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, 90 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 GGTATACACAGAGGTATACCA 0.433 38 116 --- --- --- --- PASS SERPING1 710 broad.mit.edu 37 11 57373646 57373646 + Silent SNP C T T rs143760635 byFrequency TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr11:57373646C>T uc001nkp.1 + 5 1040 c.849C>T c.(847-849)TCC>TCT p.S283S SERPING1_uc001nkq.1_Silent_p.S283S|SERPING1_uc010rju.1_Silent_p.S231S|SERPING1_uc010rjv.1_Silent_p.S288S|SERPING1_uc001nkr.1_Silent_p.S283S|SERPING1_uc009ymi.1_Silent_p.S283S|SERPING1_uc009ymj.1_Silent_p.S283S|SERPING1_uc001nks.1_5'UTR NM_000062 NP_000053 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G, member 1 283 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1) 1 GTCTGCCCTCCGATACCCGCC 0.542 Hereditary_Angioedema 13 166 --- --- --- --- PASS MPEG1 219972 broad.mit.edu 37 11 58978608 58978608 + Silent SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr11:58978608G>A uc001nnu.3 - 1 1887 c.1731C>T c.(1729-1731)TGC>TGT p.C577C NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN macrophage expressed gene 1 precursor 577 Extracellular (Potential). integral to membrane ovary(1)|skin(1) 2 all_epithelial(135;0.125) CGGATTTGACGCAATAGGACA 0.597 14 200 --- --- --- --- PASS CD248 57124 broad.mit.edu 37 11 66082542 66082542 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr11:66082542G>T uc001ohm.1 - 1 1974 c.1957C>A c.(1957-1959)CCC>ACC p.P653T NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 653 Pro-rich.|Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) GCCAACTTGGGACTGGGGCCA 0.642 35 66 --- --- --- --- PASS IGHMBP2 3508 broad.mit.edu 37 11 68707096 68707096 + Missense_Mutation SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr11:68707096C>T uc001ook.1 + 15 2981 c.2879C>T c.(2878-2880)TCC>TTC p.S960F IGHMBP2_uc001ool.1_Missense_Mutation_p.S584F NM_002180 NP_002171 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 960 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) AAGAACGGATCCCTGGACCCA 0.657 115 65 --- --- --- --- PASS MYEOV 26579 broad.mit.edu 37 11 69063258 69063258 + Missense_Mutation SNP G C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr11:69063258G>C uc001oov.2 + 3 791 c.341G>C c.(340-342)GGT>GCT p.G114A MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.G114A|MYEOV_uc001oow.2_Missense_Mutation_p.G56A NM_138768 NP_620123 Q96EZ4 MYEOV_HUMAN myeloma overexpressed 114 0 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) GGAGACAAGGGTGCCCAGACA 0.617 13 898 --- --- --- --- PASS MIR548K 100302272 broad.mit.edu 37 11 70130106 70130106 + RNA SNP A G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr11:70130106A>G hsa-mir-548k|MI0006354 + c.46A>G PPFIA1_uc001opn.1_Intron|PPFIA1_uc001opo.2_Intron|PPFIA1_uc001opp.2_Intron 0 gtacttgcggattttgcttta 0.144 13 355 --- --- --- --- PASS GRM5 2915 broad.mit.edu 37 11 88300727 88300727 + Silent SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr11:88300727G>T uc001pcq.2 - 7 2324 c.2124C>A c.(2122-2124)ATC>ATA p.I708I GRM5_uc009yvm.2_Silent_p.I708I NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 708 Helical; Name=4; (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) AGAGGGCAACGATGATGCCCA 0.463 37 52 --- --- --- --- PASS UBASH3B 84959 broad.mit.edu 37 11 122669743 122669743 + Splice_Site SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr11:122669743G>A uc001pyi.3 + 10 1810 c.1450_splice c.e10+1 p.G484_splice NM_032873 NP_116262 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing, cytoplasm|nucleus protein tyrosine phosphatase activity central_nervous_system(1) 1 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) ATCTTGAAAGGTAAGACTTGC 0.443 14 32 --- --- --- --- PASS OR6X1 390260 broad.mit.edu 37 11 123624792 123624792 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr11:123624792G>T uc010rzy.1 - 1 435 c.435C>A c.(433-435)AGC>AGA p.S145R NM_001005188 NP_001005188 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, 145 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CCACCCAGGAGCTCAGGGCCA 0.507 19 43 --- --- --- --- PASS OR8B8 26493 broad.mit.edu 37 11 124310747 124310747 + Missense_Mutation SNP G C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr11:124310747G>C uc010sal.1 - 1 235 c.235C>G c.(235-237)CCC>GCC p.P79A NM_012378 NP_036510 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, 79 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AGCATTTTGGGAGTGATAACA 0.418 26 36 --- --- --- --- PASS EFCAB4B 84766 broad.mit.edu 37 12 3806114 3806114 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr12:3806114C>A uc001qmj.2 - 4 624 c.52G>T c.(52-54)GGG>TGG p.G18W EFCAB4B_uc010sen.1_Missense_Mutation_p.G18W|EFCAB4B_uc010seo.1_Missense_Mutation_p.G18W NM_032680 NP_116069 Q9BSW2 EFC4B_HUMAN EF-hand calcium binding domain 4B isoform c 18 activation of store-operated calcium channel activity|store-operated calcium entry cytoplasm calcium ion binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264) TGGCCAGACCCCTGACCAAGT 0.572 12 23 --- --- --- --- PASS SLCO1B1 10599 broad.mit.edu 37 12 21355459 21355459 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr12:21355459G>T uc001req.3 + 10 1274 c.1170G>T c.(1168-1170)ATG>ATT p.M390I NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 390 Helical; Name=8; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) CAAGTGGAATGTTTTTAGGAG 0.299 12 37 --- --- --- --- PASS LRRK2 120892 broad.mit.edu 37 12 40749984 40749984 + Missense_Mutation SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr12:40749984G>A uc001rmg.3 + 46 6959 c.6838G>A c.(6838-6840)GTT>ATT p.V2280I LRRK2_uc009zjw.2_Missense_Mutation_p.V1118I|LRRK2_uc001rmi.2_Missense_Mutation_p.V1113I NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2280 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) AGATAAGACTGTTAAGGTAAA 0.204 9 27 --- --- --- --- PASS PUS7L 83448 broad.mit.edu 37 12 44124214 44124214 + Missense_Mutation SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr12:44124214C>T uc001rnq.3 - 9 2560 c.2071G>A c.(2071-2073)GTT>ATT p.V691I PUS7L_uc001rnr.3_Missense_Mutation_p.V691I|PUS7L_uc001rns.3_Missense_Mutation_p.V691I|PUS7L_uc009zkb.2_Missense_Mutation_p.V378I NM_001098615 NP_001092085 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. 691 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding pancreas(1) 1 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) TTCAGACAAACGGTAGCATAG 0.353 21 36 --- --- --- --- PASS NCKAP1L 3071 broad.mit.edu 37 12 54901665 54901665 + Missense_Mutation SNP T G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr12:54901665T>G uc001sgc.3 + 4 414 c.335T>G c.(334-336)ATT>AGT p.I112S NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.I62S NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 112 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 CTCAACACCATTGATGCCTGC 0.423 58 126 --- --- --- --- PASS NEUROD4 58158 broad.mit.edu 37 12 55420899 55420899 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr12:55420899C>A uc001sgp.3 + 2 1054 c.676C>A c.(676-678)CCC>ACC p.P226T NM_021191 NP_067014 Q9HD90 NDF4_HUMAN neurogenic differentiation 4 226 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 TCATCTCAAGCCCCAAGTATT 0.517 42 99 --- --- --- --- PASS OR6C75 390323 broad.mit.edu 37 12 55759054 55759054 + Missense_Mutation SNP C G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr12:55759054C>G uc010spk.1 + 1 160 c.160C>G c.(160-162)CAG>GAG p.Q54E NM_001005497 NP_001005497 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, 54 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1) 3 TCCCCATCTGCAGACTCCCAT 0.433 59 166 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104054499 104054499 + Silent SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr12:104054499G>A uc001tjw.2 + 17 2013 c.1827G>A c.(1825-1827)AGG>AGA p.R609R NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 609 Extracellular (Potential).|FAS1 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CTCACATCAGGAGCATGGCCA 0.483 31 112 --- --- --- --- PASS DDX54 79039 broad.mit.edu 37 12 113603449 113603449 + Silent SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr12:113603449C>A uc001tup.2 - 14 1747 c.1719G>T c.(1717-1719)GCG>GCT p.A573A DDX54_uc001tuq.3_Silent_p.A573A NM_024072 NP_076977 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 573 estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity skin(2)|central_nervous_system(1) 3 CCCCACTCACCGCCCGGGAGC 0.458 9 17 --- --- --- --- PASS COQ5 84274 broad.mit.edu 37 12 120960138 120960138 + Silent SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr12:120960138C>T uc001tyn.2 - 2 251 c.231G>A c.(229-231)AAG>AAA p.K77K COQ5_uc001tyo.2_5'UTR|COQ5_uc010szj.1_Silent_p.K77K NM_032314 NP_115690 Q5HYK3 COQ5_HUMAN coenzyme Q5 homolog, methyltransferase 77 ubiquinone biosynthetic process mitochondrion methyltransferase activity ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CATCATACTTCTTAGCCACAC 0.423 16 106 --- --- --- --- PASS MTUS2 23281 broad.mit.edu 37 13 29855875 29855875 + Silent SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr13:29855875G>A uc001usl.3 + 4 2767 c.2709G>A c.(2707-2709)CTG>CTA p.L903L NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 893 Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 AGCCAGTTCTGAAGGCATCTC 0.542 22 12 --- --- --- --- PASS STARD13 90627 broad.mit.edu 37 13 33704302 33704302 + Missense_Mutation SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr13:33704302G>A uc001uuw.2 - 5 638 c.512C>T c.(511-513)TCA>TTA p.S171L STARD13_uc001uuu.2_Missense_Mutation_p.S163L|STARD13_uc001uuv.2_Missense_Mutation_p.S53L|STARD13_uc001uux.2_Missense_Mutation_p.S136L|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.S156L NM_178006 NP_821074 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain 171 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) GCCTCCCGGTGACCCATTTCT 0.567 5 37 --- --- --- --- PASS NBEA 26960 broad.mit.edu 37 13 35923291 35923291 + Nonsense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr13:35923291G>T uc001uvb.2 + 37 6156 c.5950G>T c.(5950-5952)GAA>TAA p.E1984* NBEA_uc010abi.2_Nonsense_Mutation_p.E640* NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 1984 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TGTTGCAAATGAAGCTGAGTT 0.358 42 33 --- --- --- --- PASS OR4Q3 441669 broad.mit.edu 37 14 20216282 20216282 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr14:20216282G>T uc010tkt.1 + 1 696 c.696G>T c.(694-696)CAG>CAT p.Q232H NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 232 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ACTTCTGCCAGGGCCAGAACA 0.488 45 125 --- --- --- --- PASS OR4N2 390429 broad.mit.edu 37 14 20296286 20296286 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr14:20296286G>T uc010tkv.1 + 1 679 c.679G>T c.(679-681)GGG>TGG p.G227W NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 227 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCGCATACGAGGGTCTTCTTC 0.488 38 109 --- --- --- --- PASS ACTN1 87 broad.mit.edu 37 14 69346758 69346758 + Missense_Mutation SNP T C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr14:69346758T>C uc001xkl.2 - 18 2511 c.2201A>G c.(2200-2202)CAG>CGG p.Q734R ACTN1_uc001xkk.2_Missense_Mutation_p.Q330R|ACTN1_uc010ttb.1_Missense_Mutation_p.Q669R|ACTN1_uc001xkm.2_Missense_Mutation_p.Q734R|ACTN1_uc001xkn.2_Missense_Mutation_p.Q734R|ACTN1_uc010ttc.1_Missense_Mutation_p.Q319R NM_001102 NP_001093 P12814 ACTN1_HUMAN actinin, alpha 1 isoform b 734 focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) GGTCAGGATCTGGTTCTCTAC 0.607 16 69 --- --- --- --- PASS ADAM20 8748 broad.mit.edu 37 14 70990703 70990703 + Missense_Mutation SNP C G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr14:70990703C>G uc001xme.2 - 2 1167 c.922G>C c.(922-924)GAT>CAT p.D308H NM_003814 NP_003805 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 preproprotein 258 Peptidase M12B.|Extracellular (Potential). proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) GTCCATATATCAATTCCAGTC 0.348 31 61 --- --- --- --- PASS YLPM1 56252 broad.mit.edu 37 14 75269278 75269278 + Missense_Mutation SNP C G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr14:75269278C>G uc001xqj.3 + 6 4544 c.4420C>G c.(4420-4422)CAA>GAA p.Q1474E YLPM1_uc001xql.3_RNA NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 1279 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) AGAACAGCTTCAAAAGATGAA 0.368 6 91 --- --- --- --- PASS VRK1 7443 broad.mit.edu 37 14 97312478 97312478 + Missense_Mutation SNP A T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr14:97312478A>T uc001yft.2 + 4 369 c.263A>T c.(262-264)CAA>CTA p.Q88L NM_003384 NP_003375 Q99986 VRK1_HUMAN vaccinia related kinase 1 88 Protein kinase. cytoplasm|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity large_intestine(1)|stomach(1) 2 Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.234) AAGTTCTACCAACGAGCTGCA 0.328 57 96 --- --- --- --- PASS ATP10A 57194 broad.mit.edu 37 15 25959388 25959388 + Missense_Mutation SNP C A A rs114091283 byFrequency TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr15:25959388C>A uc010ayu.2 - 10 1883 c.1777G>T c.(1777-1779)GTG>TTG p.V593L NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 593 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) CTCACCCTCACCTGCAAGAGA 0.587 19 35 --- --- --- --- PASS TGM5 9333 broad.mit.edu 37 15 43525446 43525446 + Missense_Mutation SNP G C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr15:43525446G>C uc001zrd.1 - 13 2114 c.2106C>G c.(2104-2106)AGC>AGG p.S702R TGM5_uc001zrc.1_Missense_Mutation_p.S359R|TGM5_uc001zre.1_Missense_Mutation_p.S620R NM_201631 NP_963925 O43548 TGM5_HUMAN transglutaminase 5 isoform 1 702 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1) 1 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) TAAACTTGTTGCTTCTCATAT 0.448 16 34 --- --- --- --- PASS SEMA6D 80031 broad.mit.edu 37 15 48056400 48056400 + Missense_Mutation SNP G C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr15:48056400G>C uc010bek.2 + 11 1355 c.995G>C c.(994-996)AGC>ACC p.S332T SEMA6D_uc001zvw.2_Missense_Mutation_p.S332T|SEMA6D_uc001zvx.1_Missense_Mutation_p.S332T|SEMA6D_uc001zvy.2_Missense_Mutation_p.S332T|SEMA6D_uc001zvz.2_Missense_Mutation_p.S332T|SEMA6D_uc001zwa.2_Missense_Mutation_p.S332T|SEMA6D_uc001zwb.2_Missense_Mutation_p.S332T|SEMA6D_uc001zwc.2_Missense_Mutation_p.S332T NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 332 Sema.|Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TGTGCATTTAGCATGGATGAC 0.458 13 130 --- --- --- --- PASS GNB5 10681 broad.mit.edu 37 15 52420404 52420404 + Missense_Mutation SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr15:52420404C>T uc002abt.1 - 10 966 c.901G>A c.(901-903)GAT>AAT p.D301N GNB5_uc002abr.1_Missense_Mutation_p.D259N|GNB5_uc002abs.1_Missense_Mutation_p.D189N NM_016194 NP_057278 O14775 GBB5_HUMAN guanine nucleotide-binding protein, beta-5 301 WD 5. heterotrimeric G-protein complex GTPase activity|signal transducer activity lung(1) 1 all cancers(107;0.0163) GTAGCGTCATCTGACCCTGAA 0.423 5 60 --- --- --- --- PASS PRTG 283659 broad.mit.edu 37 15 55932011 55932011 + Missense_Mutation SNP A T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr15:55932011A>T uc002adg.2 - 13 2201 c.2153T>A c.(2152-2154)ATG>AAG p.M718K NM_173814 NP_776175 Q2VWP7 PRTG_HUMAN protogenin precursor 718 multicellular organismal development integral to membrane large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) AGGAGGGACCATGCGATCACG 0.433 35 45 --- --- --- --- PASS TEX9 374618 broad.mit.edu 37 15 56680680 56680680 + Missense_Mutation SNP C G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr15:56680680C>G uc002adp.2 + 5 279 c.274C>G c.(274-276)CCA>GCA p.P92A TEX9_uc002ado.1_Missense_Mutation_p.P92A|TEX9_uc010ugl.1_Missense_Mutation_p.P17A|TEX9_uc002adq.1_Missense_Mutation_p.P17A NM_198524 NP_940926 Q8N6V9 TEX9_HUMAN testis expressed 9 92 0 all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056) AGGTCTGTTACCATCTGAAGG 0.308 10 94 --- --- --- --- PASS SPESP1 246777 broad.mit.edu 37 15 69238793 69238793 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr15:69238793G>T uc002arn.1 + 2 1048 c.920G>T c.(919-921)AGA>ATA p.R307I NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron NM_145658 NP_663633 Q6UW49 SPESP_HUMAN sperm equatorial segment protein 1 precursor 307 multicellular organismal development acrosomal vesicle 0 TGTAATTCTAGATCTAAACTC 0.294 23 70 --- --- --- --- PASS ADAMTS7 11173 broad.mit.edu 37 15 79051886 79051886 + Silent SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr15:79051886G>A uc002bej.3 - 24 5149 c.4938C>T c.(4936-4938)TGC>TGT p.C1646C NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 1646 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 GCAGCGTCTCGCAGAACCCGA 0.701 3 20 --- --- --- --- PASS SLC28A1 9154 broad.mit.edu 37 15 85438313 85438313 + Silent SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr15:85438313C>T uc002blg.2 + 6 622 c.420C>T c.(418-420)CTC>CTT p.L140L SLC28A1_uc010upd.1_Silent_p.L62L|SLC28A1_uc010bnb.2_Silent_p.L140L|SLC28A1_uc010upe.1_Silent_p.L140L|SLC28A1_uc010upf.1_Silent_p.L140L|SLC28A1_uc010upg.1_Silent_p.L140L|SLC28A1_uc002blf.2_Silent_p.L140L NM_004213 NP_004204 O00337 S28A1_HUMAN solute carrier family 28, member 1 isoform 1 140 L -> LV (in A). nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(143;0.0587) GGAGGTTTCTCAAGCCTCAGG 0.637 13 60 --- --- --- --- PASS SLC28A1 9154 broad.mit.edu 37 15 85438320 85438320 + Nonsense_Mutation SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr15:85438320C>T uc002blg.2 + 6 629 c.427C>T c.(427-429)CAG>TAG p.Q143* SLC28A1_uc010upd.1_Nonsense_Mutation_p.Q65*|SLC28A1_uc010bnb.2_Nonsense_Mutation_p.Q143*|SLC28A1_uc010upe.1_Nonsense_Mutation_p.Q143*|SLC28A1_uc010upf.1_Nonsense_Mutation_p.Q143*|SLC28A1_uc010upg.1_Nonsense_Mutation_p.Q143*|SLC28A1_uc002blf.2_Nonsense_Mutation_p.Q143* NM_004213 NP_004204 O00337 S28A1_HUMAN solute carrier family 28, member 1 isoform 1 143 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(143;0.0587) TCTCAAGCCTCAGGGCCATCC 0.637 13 59 --- --- --- --- PASS HN1L 90861 broad.mit.edu 37 16 1748833 1748833 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr16:1748833G>T uc002cmg.2 + 5 443 c.407G>T c.(406-408)GGA>GTA p.G136V HN1L_uc010uvi.1_Missense_Mutation_p.G164V|HN1L_uc010brt.2_RNA|HN1L_uc010bru.2_3'UTR|HN1L_uc010uvj.1_3'UTR|HN1L_uc010uvk.1_Missense_Mutation_p.G123V NM_144570 NP_653171 Q9H910 HN1L_HUMAN hematological and neurological expressed 1-like 136 cytoplasm|nucleus upper_aerodigestive_tract(1) 1 ATCCCGGCTGGAGCAGAGCCA 0.597 12 38 --- --- --- --- PASS RPL3L 6123 broad.mit.edu 37 16 1997365 1997365 + Missense_Mutation SNP A G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr16:1997365A>G uc002cnh.2 - 5 565 c.518T>C c.(517-519)TTC>TCC p.F173S NM_005061 NP_005052 Q92901 RL3L_HUMAN ribosomal protein L3-like 173 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome 0 CTTCTGCCGGAAGGGCAGCAG 0.657 6 17 --- --- --- --- PASS GRIN2A 2903 broad.mit.edu 37 16 9862767 9862767 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr16:9862767G>T uc002czo.3 - 12 3084 c.2536C>A c.(2536-2538)CGC>AGC p.R846S GRIN2A_uc010uym.1_Missense_Mutation_p.R846S|GRIN2A_uc010uyn.1_Missense_Mutation_p.R689S|GRIN2A_uc002czr.3_Missense_Mutation_p.R846S NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 846 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AAACAGAAGCGCAGCTTCCAG 0.582 21 78 --- --- --- --- PASS GP2 2813 broad.mit.edu 37 16 20334224 20334224 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr16:20334224C>A uc002dgv.2 - 5 705 c.622G>T c.(622-624)GGC>TGC p.G208C GP2_uc002dgw.2_Missense_Mutation_p.G205C|GP2_uc002dgx.2_Missense_Mutation_p.G61C|GP2_uc002dgy.2_Missense_Mutation_p.G58C NM_001007240 NP_001007241 P55259 GP2_HUMAN zymogen granule membrane glycoprotein 2 isoform 208 EGF-like. anchored to membrane|extracellular region|plasma membrane ovary(3)|skin(1) 4 CAGAAACAGCCCCAGGTGCTG 0.592 18 50 --- --- --- --- PASS ACSM2A 123876 broad.mit.edu 37 16 20480940 20480940 + Silent SNP A G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr16:20480940A>G uc010bwe.2 + 5 734 c.495A>G c.(493-495)CAA>CAG p.Q165Q ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Silent_p.Q86Q|ACSM2A_uc002dhf.3_Silent_p.Q165Q|ACSM2A_uc002dhg.3_Silent_p.Q165Q|ACSM2A_uc010vay.1_Silent_p.Q86Q NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 165 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 AAGTCATCCAAGAAGTGGACA 0.443 48 100 --- --- --- --- PASS ERN2 10595 broad.mit.edu 37 16 23713476 23713476 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr16:23713476C>A uc002dma.3 - 11 1513 c.1344G>T c.(1342-1344)TTG>TTT p.L448F ERN2_uc010bxp.2_Missense_Mutation_p.L448F|ERN2_uc010bxq.1_Missense_Mutation_p.L256F NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signalling 2 400 Lumenal (Potential). apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) CACTGACCTCCAAGAAGAAGG 0.592 20 58 --- --- --- --- PASS SLC5A11 115584 broad.mit.edu 37 16 24921722 24921722 + Silent SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr16:24921722C>T uc002dmu.2 + 15 1978 c.1746C>T c.(1744-1746)AAC>AAT p.N582N SLC5A11_uc002dms.2_Silent_p.N518N|SLC5A11_uc010vcd.1_Silent_p.N547N|SLC5A11_uc002dmt.2_Silent_p.N426N|SLC5A11_uc010vce.1_Silent_p.N512N|SLC5A11_uc010bxt.2_Silent_p.N518N|SLC5A11_uc002dmv.2_Silent_p.N205N NM_052944 NP_443176 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/glucose 582 Cytoplasmic (Potential). apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0365) TCTCTCAGAACGGGATGCCAG 0.547 15 58 --- --- --- --- PASS MYLK3 91807 broad.mit.edu 37 16 46771994 46771994 + Silent SNP T A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr16:46771994T>A uc002eei.3 - 3 746 c.630A>T c.(628-630)TCA>TCT p.S210S MYLK3_uc010vge.1_Intron|MYLK3_uc002eej.1_5'UTR NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 210 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 7 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) CTCCCAGCCCTGACGCTCTGA 0.657 6 12 --- --- --- --- PASS ABCC11 85320 broad.mit.edu 37 16 48201277 48201277 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr16:48201277C>A uc002eff.1 - 29 4407 c.4057G>T c.(4057-4059)GTG>TTG p.V1353L ABCC11_uc002efg.1_Missense_Mutation_p.V1353L|ABCC11_uc002efh.1_Missense_Mutation_p.V1315L|ABCC11_uc010cbg.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 1353 ABC transporter 2.|Cytoplasmic (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) AATTCTACCACCTGGAGGGTA 0.567 Cerumen_Type 7 44 --- --- --- --- PASS N4BP1 9683 broad.mit.edu 37 16 48576971 48576971 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr16:48576971C>A uc002efp.2 - 7 2772 c.2535G>T c.(2533-2535)ATG>ATT p.M845I NM_153029 NP_694574 O75113 N4BP1_HUMAN Nedd4 binding protein 1 845 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body 0 all_cancers(37;0.179)|all_lung(18;0.11) TCTGAGCTGGCATGGGCAGGT 0.577 10 47 --- --- --- --- PASS GPR97 222487 broad.mit.edu 37 16 57719655 57719655 + Missense_Mutation SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr16:57719655G>A uc002emh.2 + 11 1460 c.1357G>A c.(1357-1359)GTG>ATG p.V453M GPR97_uc010vhv.1_Missense_Mutation_p.V333M|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_Missense_Mutation_p.V61M NM_170776 NP_740746 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 precursor 453 Helical; Name=5; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 CCTGGCCCTGGTGGTCTGGAA 0.592 14 50 --- --- --- --- PASS CA7 766 broad.mit.edu 37 16 66887337 66887337 + Missense_Mutation SNP T A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr16:66887337T>A uc002eqi.2 + 7 840 c.731T>A c.(730-732)GTG>GAG p.V244E uc002eqh.2_RNA|CA7_uc002eqj.2_Missense_Mutation_p.V188E NM_005182 NP_005173 P43166 CAH7_HUMAN carbonic anhydrase VII isoform 1 244 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) ATCCACATGGTGAACAACTTC 0.602 16 48 --- --- --- --- PASS CLEC3A 10143 broad.mit.edu 37 16 78064718 78064718 + Missense_Mutation SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr16:78064718G>A uc002ffh.3 + 3 655 c.574G>A c.(574-576)GAG>AAG p.E192K NM_005752 NP_005743 O75596 CLC3A_HUMAN C-type lectin domain family 3 member A 192 C-type lectin. skeletal system development extracellular region sugar binding 0 ATACATATGCGAGTTCACCAT 0.453 4 76 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7579311 7579311 + Splice_Site SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr17:7579311C>A uc002gim.2 - 4 569 c.375_splice c.e4+1 p.T125_splice TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.2_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site_p.T86_splice NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 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.?(11)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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) GGGCAACTGACCGTGCAAGTC 0.532 111 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) 44 48 --- --- --- --- PASS DNAH2 146754 broad.mit.edu 37 17 7696018 7696018 + Missense_Mutation SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr17:7696018C>T uc002giu.1 + 46 7203 c.7189C>T c.(7189-7191)CGC>TGC p.R2397C NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 2397 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CGACACTGTTCGCTACAACTA 0.607 3 45 --- --- --- --- PASS TMEM107 84314 broad.mit.edu 37 17 8079345 8079345 + Splice_Site SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr17:8079345C>A uc002gkg.3 - 2 198 c.88_splice c.e2-1 p.D30_splice TMEM107_uc002gkh.3_Splice_Site_p.D30_splice|TMEM107_uc002gki.3_Splice_Site_p.D30_splice|TMEM107_uc002gkj.3_Intron|TMEM107_uc002gkk.2_Splice_Site_p.D30_splice NM_183065 NP_898888 Q6UX40 TM107_HUMAN transmembrane protein 107 isoform 2 integral to membrane 0 TGTTGCTGTCCTGGGAGCAGG 0.597 38 34 --- --- --- --- PASS MYH13 8735 broad.mit.edu 37 17 10235418 10235418 + Nonsense_Mutation SNP T A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr17:10235418T>A uc002gmk.1 - 20 2386 c.2296A>T c.(2296-2298)AAG>TAG p.K766* NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 766 Myosin head-like.|Actin-binding (By similarity). muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 GTGCTCACCTTGGTGTTGCCG 0.547 32 28 --- --- --- --- PASS C17orf79 55352 broad.mit.edu 37 17 30179203 30179203 + Silent SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr17:30179203G>A uc002hgp.2 - 4 618 c.510C>T c.(508-510)TCC>TCT p.S170S C17orf79_uc010css.2_RNA NM_018405 NP_060875 Q9NQ92 COPR5_HUMAN chromosome 17 open reading frame 79 170 histone H4-R3 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone binding 0 all_cancers(10;4.54e-07)|all_hematologic(16;0.0216)|Acute lymphoblastic leukemia(14;0.0255)|Myeloproliferative disorder(56;0.0393)|Ovarian(249;0.1) AGACCATCTTGGAATAATAGG 0.502 41 38 --- --- --- --- PASS KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr17:39183145A>G uc002hvu.2 - 1 310 c.263T>C c.(262-264)ATC>ACC p.I88T NM_031957 NP_114163 Q9BYS1 KRA15_HUMAN keratin associated protein 1.5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament 0 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632 7 49 --- --- --- --- PASS CRHR1 1394 broad.mit.edu 37 17 43908281 43908281 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr17:43908281G>T uc010dap.2 + 9 1097 c.832G>T c.(832-834)GGG>TGG p.G278W CRHR1_uc010wjx.1_Missense_Mutation_p.G74W|CRHR1_uc002ijp.2_Missense_Mutation_p.G148W|CRHR1_uc002ijm.2_Missense_Mutation_p.G249W|CRHR1_uc002ijn.2_Missense_Mutation_p.G209W|CRHR1_uc010dar.2_Missense_Mutation_p.G249W|CRHR1_uc010dao.2_Missense_Mutation_p.G148W|CRHR1_uc010daq.2_Missense_Mutation_p.G74W NM_001145146 NP_001138618 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 278 Helical; Name=4; (Potential). female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(3) 3 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) CTGGGCCATTGGGAAGCTGTA 0.463 33 42 --- --- --- --- PASS NME1 4830 broad.mit.edu 37 17 49239125 49239125 + Silent SNP A G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr17:49239125A>G uc002iti.1 + 5 486 c.378A>G c.(376-378)GCA>GCG p.A126A NME1_uc002ith.1_Silent_p.A151A|NME1-NME2_uc002itj.2_Intron|NME1-NME2_uc002itk.2_Intron NM_000269 NP_000260 P15531 NDKA_HUMAN non-metastatic cells 1, protein (NM23A) 126 cell differentiation|CTP biosynthetic process|endocytosis|GTP biosynthetic process|negative regulation of cell proliferation|nervous system development|nucleobase, nucleoside and nucleotide interconversion|positive regulation of DNA binding|positive regulation of epithelial cell proliferation|regulation of apoptosis|UTP biosynthetic process cytosol|nucleus ATP binding|deoxyribonuclease activity|GTP binding|identical protein binding|magnesium ion binding|nucleoside diphosphate kinase activity 0 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) Gemcitabine(DB00441)|Progesterone(DB00396) TGGAGAGTGCAGAGAAGGAGA 0.483 57 39 --- --- --- --- PASS KIF2B 84643 broad.mit.edu 37 17 51901317 51901317 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr17:51901317G>T uc002iua.2 + 1 1079 c.923G>T c.(922-924)GGG>GTG p.G308V uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 308 ATP (By similarity).|Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 ACGGGAAGTGGGAAGACGTAC 0.552 39 37 --- --- --- --- PASS CEP192 55125 broad.mit.edu 37 18 13092463 13092463 + Missense_Mutation SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr18:13092463G>A uc010xac.1 + 34 6271 c.6191G>A c.(6190-6192)AGA>AAA p.R2064K CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.R1589K|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.R486K|CEP192_uc002krw.2_Missense_Mutation_p.R213K|CEP192_uc002krx.2_Missense_Mutation_p.R68K|CEP192_uc002kry.2_RNA NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 2064 ovary(4)|pancreas(1) 5 GGAGAATTCAGAGATTGCATT 0.343 22 49 --- --- --- --- PASS MC5R 4161 broad.mit.edu 37 18 13826480 13826480 + Missense_Mutation SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr18:13826480C>T uc010xaf.1 + 1 716 c.716C>T c.(715-717)ACC>ATC p.T239I NM_005913 NP_005904 P33032 MC5R_HUMAN melanocortin 5 receptor 239 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding ovary(3)|lung(2)|breast(1) 6 GGCGCGGTCACCGTCACCATG 0.617 17 160 --- --- --- --- PASS DSG4 147409 broad.mit.edu 37 18 28993359 28993359 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr18:28993359C>A uc002kwq.2 + 16 3059 c.2924C>A c.(2923-2925)CCT>CAT p.P975H DSG4_uc002kwr.2_Missense_Mutation_p.P994H NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein 975 Cytoplasmic (Potential). homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(3) 8 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CCTGGTGTGCCTGACATGAGC 0.433 77 144 --- --- --- --- PASS PIK3C3 5289 broad.mit.edu 37 18 39609304 39609304 + Nonsense_Mutation SNP A T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr18:39609304A>T uc002lap.2 + 15 1664 c.1606A>T c.(1606-1608)AGA>TGA p.R536* PIK3C3_uc010xcl.1_Nonsense_Mutation_p.R473*|PIK3C3_uc002laq.2_Nonsense_Mutation_p.R21* NM_002647 NP_002638 Q8NEB9 PK3C3_HUMAN catalytic phosphatidylinositol 3-kinase 3 536 cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding lung(8)|ovary(1)|breast(1) 10 TAAGTCTGTCAGAGTTATGCG 0.388 TSP Lung(28;0.18) 32 60 --- --- --- --- PASS TCEB3C 162699 broad.mit.edu 37 18 44549187 44549187 + Missense_Mutation SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr18:44549187G>A uc010dnr.2 - 1 1112 c.1112C>T c.(1111-1113)ACG>ATG p.T371M KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_001100817 NP_001094287 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 371 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding 0 CTGATCGGGCGTCCACCCTTC 0.587 36 441 --- --- --- --- PASS TCEB3C 162699 broad.mit.edu 37 18 44555055 44555055 + Missense_Mutation SNP G C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr18:44555055G>C uc010xdb.1 - 1 1395 c.1159C>G c.(1159-1161)CGA>GGA p.R387G KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 387 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding 0 TCTGTCTCTCGAGCGAGTGCG 0.567 33 625 --- --- --- --- PASS ALPK2 115701 broad.mit.edu 37 18 56184260 56184260 + Missense_Mutation SNP G C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr18:56184260G>C uc002lhj.3 - 9 6034 c.5820C>G c.(5818-5820)CAC>CAG p.H1940Q NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 1940 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity p.H1301H(1) ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 GCATGAGGCCGTGCATCACTG 0.557 46 109 --- --- --- --- PASS CDH20 28316 broad.mit.edu 37 18 59157860 59157860 + Missense_Mutation SNP T C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr18:59157860T>C uc010dps.1 + 1 86 c.74T>C c.(73-75)CTG>CCG p.L25P CDH20_uc002lif.2_Missense_Mutation_p.L19P NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 25 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) TTCTGGGGGCTGATGGACCTT 0.502 40 96 --- --- --- --- PASS ZNF236 7776 broad.mit.edu 37 18 74587471 74587471 + Missense_Mutation SNP G C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr18:74587471G>C uc002lmi.2 + 6 883 c.685G>C c.(685-687)GAA>CAA p.E229Q ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Missense_Mutation_p.E229Q NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 229 C2H2-type 7. cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CAAATGTAGTGAATGTGGAAA 0.448 OREG0025069 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 84 --- --- --- --- PASS MIDN 90007 broad.mit.edu 37 19 1255030 1255030 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr19:1255030G>T uc002lrp.2 + 6 1341 c.826G>T c.(826-828)GCC>TCC p.A276S NM_177401 NP_796375 Q504T8 MIDN_HUMAN midnolin 276 nucleolus 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGTGAATCACGCCCCGGGGGT 0.632 31 58 --- --- --- --- PASS ADAMTSL5 339366 broad.mit.edu 37 19 1506294 1506294 + Missense_Mutation SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr19:1506294C>T uc002ltd.2 - 12 1580 c.1136G>A c.(1135-1137)GGC>GAC p.G379D ADAMTSL5_uc010dsl.2_Missense_Mutation_p.G148D|ADAMTSL5_uc010xgq.1_Missense_Mutation_p.G389D NM_213604 NP_998769 Q6ZMM2 ATL5_HUMAN ADAMTS-like 5 precursor 379 NTR. proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGGTGGTGGCCCAGCACTCG 0.647 13 30 --- --- --- --- PASS ZNRF4 148066 broad.mit.edu 37 19 5455728 5455728 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr19:5455728C>A uc002mca.3 + 1 303 c.226C>A c.(226-228)CCG>ACG p.P76T NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 precursor 76 Extracellular (Potential). integral to membrane zinc ion binding large_intestine(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) GTGGCCACGGCCGGGCCGAGC 0.672 18 65 --- --- --- --- PASS VAV1 7409 broad.mit.edu 37 19 6825111 6825111 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr19:6825111G>T uc002mfu.1 + 7 799 c.702G>T c.(700-702)GAG>GAT p.E234D VAV1_uc010xjh.1_Missense_Mutation_p.E202D|VAV1_uc010dva.1_Missense_Mutation_p.E234D|VAV1_uc002mfv.1_Missense_Mutation_p.E179D NM_005428 NP_005419 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 234 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1) 16 AAGACATTGAGATCATCTTTA 0.542 35 113 --- --- --- --- PASS FBN3 84467 broad.mit.edu 37 19 8130938 8130938 + Silent SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr19:8130938C>A uc002mjf.2 - 63 8316 c.8295G>T c.(8293-8295)CGG>CGT p.R2765R FBN3_uc002mje.2_Silent_p.R561R NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 2765 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 CCGGCCGCCTCCGCCCCAGCT 0.682 38 104 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9046849 9046849 + Missense_Mutation SNP G C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr19:9046849G>C uc002mkp.2 - 5 34986 c.34782C>G c.(34780-34782)AAC>AAG p.N11594K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11596 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TATGGGAAAAGTTGGGAATTG 0.517 31 61 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9070865 9070865 + Silent SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr19:9070865G>A uc002mkp.2 - 3 16785 c.16581C>T c.(16579-16581)AGC>AGT p.S5527S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5529 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGGATGTTCTGCTAGAGGAGA 0.493 48 74 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9085224 9085224 + Missense_Mutation SNP G C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr19:9085224G>C uc002mkp.2 - 1 6795 c.6591C>G c.(6589-6591)AAC>AAG p.N2197K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2197 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ATGGATCCTTGTTCATTCTAA 0.483 31 50 --- --- --- --- PASS ZNF709 163051 broad.mit.edu 37 19 12577614 12577614 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr19:12577614C>A uc002mtv.3 - 2 215 c.54G>T c.(52-54)TGG>TGT p.W18C ZNF709_uc002mtw.3_5'UTR|ZNF709_uc002mtx.3_Missense_Mutation_p.W18C NM_152601 NP_689814 Q8N972 ZN709_HUMAN zinc finger protein 709 isoform a 18 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCAGCAAAGCCCACTCCTCCT 0.478 52 109 --- --- --- --- PASS PKN1 5585 broad.mit.edu 37 19 14578739 14578739 + Missense_Mutation SNP C G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr19:14578739C>G uc002myp.2 + 15 2104 c.1936C>G c.(1936-1938)CTG>GTG p.L646V PKN1_uc002myq.2_Missense_Mutation_p.L652V|PKN1_uc002myr.2_5'UTR NM_002741 NP_002732 Q16512 PKN1_HUMAN protein kinase N1 isoform 2 646 Protein kinase. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 CATCAAGGCTCTGAAGAAAGG 0.607 20 42 --- --- --- --- PASS NDUFB7 4713 broad.mit.edu 37 19 14682710 14682710 + Nonsense_Mutation SNP T A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr19:14682710T>A uc002mzg.2 - 1 177 c.103A>T c.(103-105)AAG>TAG p.K35* NM_004146 NP_004137 P17568 NDUB7_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 35 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity ovary(1) 1 NADH(DB00157) CCGCGCTCCTTGCGTTCGGGG 0.736 7 20 --- --- --- --- PASS JAK3 3718 broad.mit.edu 37 19 17945801 17945801 + Missense_Mutation SNP T C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr19:17945801T>C uc002nhn.3 - 16 2159 c.2059A>G c.(2059-2061)AGG>GGG p.R687G JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Missense_Mutation_p.R687G NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 687 Protein kinase 1. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 56 CAGGGGATCCTGTCGGTGAGC 0.612 2 Mis acute megakaryocytic leukemia| 45 80 --- --- --- --- PASS ZNF93 81931 broad.mit.edu 37 19 20044384 20044384 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr19:20044384G>T uc002non.2 + 4 731 c.620G>T c.(619-621)GGC>GTC p.G207V NM_031218 NP_112495 P35789 ZNF93_HUMAN zinc finger protein 93 207 C2H2-type 3. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 GAAGAATGTGGCAAAGCCTTT 0.363 7 37 --- --- --- --- PASS ZNF566 84924 broad.mit.edu 37 19 36940165 36940165 + Missense_Mutation SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr19:36940165G>A uc002oea.3 - 5 1053 c.971C>T c.(970-972)TCA>TTA p.S324L ZNF566_uc010xte.1_Missense_Mutation_p.S324L|ZNF566_uc010xtf.1_Missense_Mutation_p.S325L|ZNF566_uc002oeb.3_Missense_Mutation_p.S324L|ZNF566_uc002oec.3_Missense_Mutation_p.S220L|ZNF566_uc010xtg.1_Missense_Mutation_p.S220L NM_032838 NP_116227 Q969W8 ZN566_HUMAN zinc finger protein 566 isoform 1 324 C2H2-type 5.|C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.162) AATAAGTTGTGAGCTCTGACT 0.393 22 65 --- --- --- --- PASS LGALS13 29124 broad.mit.edu 37 19 40097920 40097920 + Missense_Mutation SNP G C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr19:40097920G>C uc002omb.2 + 4 401 c.361G>C c.(361-363)GTG>CTG p.V121L NM_013268 NP_037400 Q9UHV8 PP13_HUMAN galectin-13 121 Galectin. lipid catabolic process|phospholipid metabolic process carboxylesterase activity|lysophospholipase activity|sugar binding ovary(1) 1 all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116) Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) GCCATCATTTGTGAAGATGGT 0.448 35 69 --- --- --- --- PASS FCGBP 8857 broad.mit.edu 37 19 40362888 40362888 + Missense_Mutation SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr19:40362888G>A uc002omp.3 - 32 15190 c.15182C>T c.(15181-15183)GCG>GTG p.A5061V NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 5061 VWFD 12. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CTGGCAGGTCGCGAAGGGGCC 0.652 7 183 --- --- --- --- PASS SHKBP1 92799 broad.mit.edu 37 19 41086788 41086788 + Missense_Mutation SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr19:41086788G>A uc002oob.2 + 9 839 c.790G>A c.(790-792)GGC>AGC p.G264S SHKBP1_uc002ooc.2_Missense_Mutation_p.G264S|SHKBP1_uc002ood.2_Missense_Mutation_p.G264S|SHKBP1_uc010xvl.1_Missense_Mutation_p.G187S|SHKBP1_uc002ooe.2_Missense_Mutation_p.G101S|SHKBP1_uc002oof.2_Missense_Mutation_p.G101S|SHKBP1_uc010xvm.1_Missense_Mutation_p.G101S|SHKBP1_uc010xvn.1_Missense_Mutation_p.G142S NM_138392 NP_612401 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 264 WD 1. voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|pancreas(1) 2 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGCAGCCACCGGCAGCGAGAT 0.607 20 113 --- --- --- --- PASS CYP2A13 1553 broad.mit.edu 37 19 41594547 41594547 + Silent SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr19:41594547C>A uc002opt.2 + 1 180 c.171C>A c.(169-171)TCC>TCA p.S57S NM_000766 NP_000757 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, 57 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding ovary(2)|skin(1) 3 Clomipramine(DB01242)|Nicotine(DB00184) TGTACAACTCCCTCATGAAGG 0.612 26 82 --- --- --- --- PASS ZNF229 7772 broad.mit.edu 37 19 44932887 44932887 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr19:44932887C>A uc002oze.1 - 6 2503 c.2069G>T c.(2068-2070)GGC>GTC p.G690V ZNF229_uc010ejk.1_Missense_Mutation_p.G344V|ZNF229_uc010ejl.1_Missense_Mutation_p.G684V NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN zinc finger protein 229 690 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 Prostate(69;0.0352) GAATCCCTTGCCACACTGATC 0.488 53 120 --- --- --- --- PASS GEMIN7 79760 broad.mit.edu 37 19 45593579 45593579 + Silent SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr19:45593579C>T uc002pap.1 + 3 358 c.207C>T c.(205-207)AGC>AGT p.S69S uc002pas.2_5'Flank|GEMIN7_uc002paq.1_Silent_p.S69S|GEMIN7_uc002par.1_Silent_p.S69S NM_001007270 NP_001007271 Q9H840 GEMI7_HUMAN gemin 7 69 ncRNA metabolic process|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding ovary(1) 1 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0131) ACCTCCGCAGCCTGCTGGCCA 0.617 11 29 --- --- --- --- PASS ZNF114 163071 broad.mit.edu 37 19 48789058 48789058 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr19:48789058G>T uc002pil.1 + 6 674 c.177G>T c.(175-177)CAG>CAT p.Q59H ZNF114_uc010elv.1_Missense_Mutation_p.Q59H|ZNF114_uc002pim.1_Missense_Mutation_p.Q59H|ZNF114_uc002pin.2_Missense_Mutation_p.Q25H NM_153608 NP_705836 Q8NC26 ZN114_HUMAN zinc finger protein 114 59 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153) CAACCCCTCAGCCGGATATTC 0.438 44 92 --- --- --- --- PASS SIGLEC14 100049587 broad.mit.edu 37 19 52147192 52147192 + Silent SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr19:52147192C>A uc002pxf.3 - 5 972 c.852G>T c.(850-852)CTG>CTT p.L284L NM_001098612 NP_001092082 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 precursor 284 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) GGAACCAGCTCAGTGAGGCAG 0.602 23 54 --- --- --- --- PASS LILRA1 11024 broad.mit.edu 37 19 55106308 55106308 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr19:55106308C>A uc002qgh.1 + 4 431 c.249C>A c.(247-249)TTC>TTA p.F83L LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.F83L NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 83 Ig-like C2-type 1.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) AGGGCCAGTTCCCCATCCCAT 0.567 60 115 --- --- --- --- PASS NLRP13 126204 broad.mit.edu 37 19 56422082 56422082 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr19:56422082G>T uc010ygg.1 - 6 2154 c.2129C>A c.(2128-2130)TCC>TAC p.S710Y NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 710 ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GTGCATCCTGGAATCAAACTT 0.458 62 118 --- --- --- --- PASS ZNF8 7554 broad.mit.edu 37 19 58806806 58806806 + Silent SNP A G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr19:58806806A>G uc002qry.1 + 4 1762 c.1632A>G c.(1630-1632)CAA>CAG p.Q544Q ZNF8_uc002qrz.2_RNA NM_021089 NP_066575 P17098 ZNF8_HUMAN zinc finger protein 8 544 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619) TTGACATCCAAAAAATCATGC 0.502 10 79 --- --- --- --- PASS PDYN 5173 broad.mit.edu 37 20 1961487 1961487 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr20:1961487C>A uc010gaj.2 - 3 489 c.247G>T c.(247-249)GGG>TGG p.G83W uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.G83W|PDYN_uc010zpt.1_Intron NM_024411 NP_077722 P01213 PDYN_HUMAN beta-neoendorphin-dynorphin preproprotein 83 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity upper_aerodigestive_tract(1)|ovary(1) 2 GACTTGCTCCCCAAGTCCTCC 0.562 63 61 --- --- --- --- PASS PDYN 5173 broad.mit.edu 37 20 1961488 1961488 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr20:1961488C>A uc010gaj.2 - 3 488 c.246G>T c.(244-246)TTG>TTT p.L82F uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.L82F|PDYN_uc010zpt.1_Intron NM_024411 NP_077722 P01213 PDYN_HUMAN beta-neoendorphin-dynorphin preproprotein 82 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity upper_aerodigestive_tract(1)|ovary(1) 2 ACTTGCTCCCCAAGTCCTCCT 0.562 65 58 --- --- --- --- PASS TGM6 343641 broad.mit.edu 37 20 2375122 2375122 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr20:2375122G>T uc002wfy.1 + 2 93 c.32G>T c.(31-33)TGG>TTG p.W11L TGM6_uc010gal.1_Missense_Mutation_p.W11L NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 11 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) AAGGTGGACTGGCAGCGGTCG 0.637 13 72 --- --- --- --- PASS SIGLEC1 6614 broad.mit.edu 37 20 3673306 3673306 + Missense_Mutation SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr20:3673306C>T uc002wja.2 - 15 3892 c.3892G>A c.(3892-3894)GGT>AGT p.G1298S SIGLEC1_uc002wjb.1_5'UTR|SIGLEC1_uc002wiz.3_Missense_Mutation_p.G1298S NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 1298 Ig-like C2-type 13.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 AGCCAACGACCGTTGTGGTAC 0.657 12 83 --- --- --- --- PASS CST4 1472 broad.mit.edu 37 20 23669511 23669511 + Silent SNP A T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr20:23669511A>T uc002wto.1 - 1 152 c.96T>A c.(94-96)GGT>GGA p.G32G NM_001899 NP_001890 P01036 CYTS_HUMAN cystatin S precursor 32 Reactive site. extracellular region cysteine-type endopeptidase inhibitor activity breast(1) 1 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) CATAGATGCCACCTGGGATTA 0.562 24 98 --- --- --- --- PASS NINL 22981 broad.mit.edu 37 20 25493536 25493536 + Silent SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr20:25493536C>T uc002wux.1 - 4 458 c.384G>A c.(382-384)CCG>CCA p.P128P NINL_uc010gdn.1_Silent_p.P128P|NINL_uc010gdo.1_5'UTR|NINL_uc010ztf.1_Silent_p.P144P NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 128 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 TTTGCTGCTCCGGCACGCGTC 0.627 7 106 --- --- --- --- PASS CDK5RAP1 51654 broad.mit.edu 37 20 31960462 31960462 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr20:31960462C>A uc010gek.2 - 11 1413 c.1289G>T c.(1288-1290)AGA>ATA p.R430I CDK5RAP1_uc002wyy.2_Missense_Mutation_p.R326I|CDK5RAP1_uc002wyz.2_Missense_Mutation_p.R416I|CDK5RAP1_uc002wza.2_Missense_Mutation_p.R416I|CDK5RAP1_uc010gel.2_Missense_Mutation_p.R325I|CDK5RAP1_uc010gem.2_Missense_Mutation_p.R339I|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.R416I|CDK5RAP1_uc002wzb.1_Missense_Mutation_p.R51I NM_016408 NP_057492 Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 430 brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity ovary(2)|skin(2)|lung(1) 5 AATAGATTCTCTAATATGGTG 0.368 29 75 --- --- --- --- PASS BPI 671 broad.mit.edu 37 20 36954788 36954788 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr20:36954788C>A uc002xib.2 + 10 1189 c.1127C>A c.(1126-1128)GCC>GAC p.A376D NM_001725 NP_001716 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 376 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding ovary(4) 4 Myeloproliferative disorder(115;0.00878) CAGGCCTTTGCCGTCCTCCCC 0.493 8 30 --- --- --- --- PASS FAM65C 140876 broad.mit.edu 37 20 49218725 49218725 + Missense_Mutation SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr20:49218725C>T uc002xvm.2 - 13 1849 c.1531G>A c.(1531-1533)GTG>ATG p.V511M FAM65C_uc010zyt.1_Missense_Mutation_p.V515M|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.V511M NM_080829 NP_543019 Q96MK2 FA65C_HUMAN hypothetical protein LOC140876 511 ovary(2) 2 TCGAGGGCCACGCCAGGCCCG 0.692 5 22 --- --- --- --- PASS SS18L1 26039 broad.mit.edu 37 20 60738679 60738679 + Splice_Site SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr20:60738679G>T uc002ycb.2 + 6 776 c.721_splice c.e6+1 p.G241_splice SS18L1_uc011aaa.1_Splice_Site_p.G241_splice|SS18L1_uc002ybz.1_Splice_Site|SS18L1_uc002yca.1_Splice_Site|SS18L1_uc002ycc.1_Splice_Site NM_198935 NP_945173 O75177 CREST_HUMAN SS18-like protein 1 chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed chromosome kinetochore ovary(2) 2 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.92e-08) TCCCAGCAAGGTAACGCCCGG 0.706 T SSX1 synovial sarcoma 12 15 --- --- --- --- PASS TMPRSS15 5651 broad.mit.edu 37 21 19670050 19670050 + Splice_Site SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr21:19670050C>A uc002ykw.2 - 19 2292 c.2261_splice c.e19+1 p.S754_splice NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 TAGGGACCCACCTGGGTGTTA 0.418 8 55 --- --- --- --- PASS AGPAT3 56894 broad.mit.edu 37 21 45391324 45391324 + Silent SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr21:45391324G>A uc002zdv.2 + 7 942 c.720G>A c.(718-720)CTG>CTA p.L240L AGPAT3_uc002zdw.2_Silent_p.L240L|AGPAT3_uc002zdx.2_Silent_p.L327L|AGPAT3_uc002zdy.2_Silent_p.L178L NM_020132 NP_064517 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 240 Lumenal (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity 0 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) ACCCGTCCCTGCTGGGGATCC 0.607 26 134 --- --- --- --- PASS TRPM2 7226 broad.mit.edu 37 21 45811378 45811378 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr21:45811378G>T uc002zet.1 + 12 1877 c.1664G>T c.(1663-1665)CGC>CTC p.R555L TRPM2_uc002zeu.1_Missense_Mutation_p.R555L|TRPM2_uc002zew.1_Missense_Mutation_p.R555L|TRPM2_uc010gpt.1_Missense_Mutation_p.R555L|TRPM2_uc002zex.1_Missense_Mutation_p.R341L|TRPM2_uc002zey.1_Missense_Mutation_p.R68L NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 555 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 gcggcgccccgccTGCAGATG 0.602 4 12 --- --- --- --- PASS C21orf29 54084 broad.mit.edu 37 21 45947267 45947267 + Missense_Mutation SNP C T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr21:45947267C>T uc002zfe.1 - 7 1123 c.1057G>A c.(1057-1059)GTC>ATC p.V353I C21orf29_uc010gpv.1_Missense_Mutation_p.V285I NM_144991 NP_659428 Q8WU66 TSEAR_HUMAN chromosome 21 open reading frame 29 precursor 353 EAR 1. cell adhesion extracellular region structural molecule activity 0 CACTTGTAGACGGCGGATGTG 0.552 14 134 --- --- --- --- PASS CECR2 27443 broad.mit.edu 37 22 17990897 17990897 + Missense_Mutation SNP A G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr22:17990897A>G uc010gqw.1 + 7 923 c.797A>G c.(796-798)GAC>GGC p.D266G CECR2_uc010gqv.1_Missense_Mutation_p.D145G|CECR2_uc002zml.2_Missense_Mutation_p.D145G|CECR2_uc002zmm.1_Intron NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 308 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) TGGATGTCTGACCACCTGTCC 0.473 42 130 --- --- --- --- PASS CECR2 27443 broad.mit.edu 37 22 18020403 18020403 + Missense_Mutation SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr22:18020403G>A uc010gqw.1 + 13 1858 c.1732G>A c.(1732-1734)GAG>AAG p.E578K CECR2_uc010gqv.1_Missense_Mutation_p.E437K|CECR2_uc002zml.2_Missense_Mutation_p.E437K NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 620 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) GCCCCCGCGGGAGGTGGGCAC 0.592 37 51 --- --- --- --- PASS DUSP18 150290 broad.mit.edu 37 22 31059940 31059940 + Silent SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr22:31059940G>A uc003aiu.2 - 2 552 c.51C>T c.(49-51)GTC>GTT p.V17V SLC35E4_uc003ait.2_Intron|DUSP18_uc010gwa.1_RNA|DUSP18_uc003aiw.1_Silent_p.V17V NM_152511 NP_689724 Q8NEJ0 DUS18_HUMAN dual specificity phosphatase 18 17 cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 AGAGGCCGCTGACTGAGGGCT 0.567 26 43 --- --- --- --- PASS OSBP2 23762 broad.mit.edu 37 22 31091240 31091240 + Missense_Mutation SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr22:31091240G>A uc003aiy.1 + 1 448 c.344G>A c.(343-345)GGG>GAG p.G115E OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc003aix.1_Missense_Mutation_p.G115E|OSBP2_uc011alb.1_Missense_Mutation_p.G115E|OSBP2_uc003aiz.1_Missense_Mutation_p.G115E NM_030758 NP_110385 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 isoform a 115 lipid transport membrane lipid binding breast(1)|skin(1) 2 TCAGGTGTAGGGGCTGGGCCC 0.677 29 46 --- --- --- --- PASS SCUBE1 80274 broad.mit.edu 37 22 43623418 43623418 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr22:43623418G>T uc003bdt.1 - 10 1257 c.1169C>A c.(1168-1170)CCG>CAG p.P390Q NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 390 EGF-like 9; calcium-binding (Potential). adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_neural(38;0.0414)|Ovarian(80;0.07) CCGCCTCCCCGGGGGACAGAC 0.667 12 25 --- --- --- --- PASS PNPLA3 80339 broad.mit.edu 37 22 44323026 44323026 + Silent SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr22:44323026G>T uc003bei.1 + 2 572 c.399G>T c.(397-399)CGG>CGT p.R133R PNPLA3_uc010gzm.1_RNA NM_025225 NP_079501 Q9NST1 PLPL3_HUMAN patatin-like phospholipase domain containing 3 133 Lumenal (Potential).|Patatin. triglyceride biosynthetic process|triglyceride catabolic process integral to membrane diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity 0 Ovarian(80;0.024)|all_neural(38;0.0416) CTGACTTTCGGTCCAAAGACG 0.418 17 60 --- --- --- --- PASS REPS2 9185 broad.mit.edu 37 X 17072970 17072970 + Silent SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chrX:17072970G>T uc004cxv.1 + 8 1182 c.1011G>T c.(1009-1011)CTG>CTT p.L337L REPS2_uc004cxw.1_Silent_p.L336L|REPS2_uc011miw.1_Silent_p.L196L NM_004726 NP_004717 Q8NFH8 REPS2_HUMAN RALBP1 associated Eps domain containing 2 337 EH 2.|EF-hand.|Potential. epidermal growth factor receptor signaling pathway|protein complex assembly cytoplasm calcium ion binding|protein binding skin(2)|central_nervous_system(1) 3 Hepatocellular(33;0.183) CCCTGACCCTGCCTGAGTTCT 0.527 24 34 --- --- --- --- PASS NHS 4810 broad.mit.edu 37 X 17394302 17394302 + Missense_Mutation SNP A T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chrX:17394302A>T uc004cxx.2 + 1 760 c.422A>T c.(421-423)GAC>GTC p.D141V NHS_uc011mix.1_Missense_Mutation_p.D141V NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 141 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) CAGCTCTCGGACGTGGCCCGG 0.602 7 5 --- --- --- --- PASS FAM47C 442444 broad.mit.edu 37 X 37028600 37028600 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chrX:37028600C>A uc004ddl.1 + 1 2131 c.2117C>A c.(2116-2118)CCT>CAT p.P706H NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 706 ovary(3) 3 CACCCAGAGCCTCCCAAGACT 0.632 20 26 --- --- --- --- PASS RLIM 51132 broad.mit.edu 37 X 73811973 73811973 + Missense_Mutation SNP C A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chrX:73811973C>A uc004ebu.2 - 5 1467 c.1177G>T c.(1177-1179)GGT>TGT p.G393C RLIM_uc004ebw.2_Missense_Mutation_p.G393C NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 393 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 TCACTTAAACCAGTATTTAAG 0.413 29 24 --- --- --- --- PASS SMARCA1 6594 broad.mit.edu 37 X 128650319 128650319 + Missense_Mutation SNP A C C TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chrX:128650319A>C uc004eun.3 - 3 530 c.417T>G c.(415-417)ATT>ATG p.I139M SMARCA1_uc004eup.3_Missense_Mutation_p.I139M|SMARCA1_uc011muk.1_Missense_Mutation_p.I139M|SMARCA1_uc011mul.1_Missense_Mutation_p.I139M NM_003069 NP_003060 P28370 SMCA1_HUMAN SWI/SNF-related matrix-associated 139 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding ovary(3)|skin(1) 4 CTCCAGCAGAAATTAAGCTCT 0.264 42 25 --- --- --- --- PASS BCORL1 63035 broad.mit.edu 37 X 129148945 129148945 + Missense_Mutation SNP G A A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chrX:129148945G>A uc004evb.1 + 4 2311 c.2197G>A c.(2197-2199)GAC>AAC p.D733N BCORL1_uc010nrd.1_Missense_Mutation_p.D635N NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 733 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 GCTGAACAAAGACCCCAACCT 0.597 12 19 --- --- --- --- PASS GPC3 2719 broad.mit.edu 37 X 133087079 133087079 + Missense_Mutation SNP T G G TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chrX:133087079T>G uc004exe.1 - 2 525 c.335A>C c.(334-336)CAA>CCA p.Q112P GPC3_uc010nrn.1_Missense_Mutation_p.Q112P|GPC3_uc011mvh.1_Intron|GPC3_uc010nro.1_Intron|GPC3_uc010nrp.1_5'UTR NM_004484 NP_004475 P51654 GPC3_HUMAN glypican 3 isoform 2 precursor 112 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity lung(2)|prostate(1)|breast(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) GAACTCACCTTGGAAAACCGC 0.383 T|D|Mis|N|F|S Wilms tumour Simpson-Golabi-Behmel_syndrome 75 53 --- --- --- --- PASS MAGEC1 9947 broad.mit.edu 37 X 140995924 140995924 + Missense_Mutation SNP G T T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chrX:140995924G>T uc004fbt.2 + 4 3020 c.2734G>T c.(2734-2736)GTG>TTG p.V912L MAGEC1_uc010nsl.1_5'UTR NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 912 MAGE. protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GGATGAAAAGGTGGACGAGTT 0.483 HNSCC(15;0.026) 69 78 --- --- --- --- PASS COL11A2 1302 broad.mit.edu 37 6 33141171 33141171 + Frame_Shift_Del DEL G - - TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr6:33141171delG uc003ocx.1 - 37 2918 c.2690delC c.(2689-2691)CCTfs p.P897fs COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Frame_Shift_Del_p.P811fs|COL11A2_uc003ocz.1_Frame_Shift_Del_p.P790fs NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 897 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 ATCCTTCCCAGGGGGGCCCTG 0.597 41 28 --- --- --- --- VPS13B 157680 broad.mit.edu 37 8 100833601 100833602 + In_Frame_Ins INS - GAC GAC TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr8:100833601_100833602insGAC uc003yiv.2 + 50 9260_9261 c.9149_9150insGAC c.(9148-9150)CTG>CTGACG p.3051_3052insT VPS13B_uc003yiw.2_In_Frame_Ins_p.3026_3027insT NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3051_3052 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GTCCATAACCTGACATCTCCAA 0.396 74 62 --- --- --- --- OR5M1 390168 broad.mit.edu 37 11 56380387 56380387 + Frame_Shift_Del DEL C - - TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr11:56380387delC uc001nja.1 - 1 592 c.592delG c.(592-594)GCAfs p.A198fs NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, 198 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 ACAAACATTGCCATCTTTTTG 0.443 51 32 --- --- --- --- VWA3A 146177 broad.mit.edu 37 16 22163889 22163889 + Frame_Shift_Del DEL C - - TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr16:22163889delC uc010vbq.1 + 31 3435 c.3339delC c.(3337-3339)TGCfs p.C1113fs VWA3A_uc010bxd.2_RNA|VWA3A_uc002dkg.3_Frame_Shift_Del_p.C191fs|VWA3A_uc010bxe.1_Frame_Shift_Del_p.C215fs NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 1113 VWFA 2. extracellular region skin(1) 1 GBM - Glioblastoma multiforme(48;0.0439) GCTATCACTGCCCTGTGGGTG 0.557 23 10 --- --- --- --- KANK3 256949 broad.mit.edu 37 19 8398950 8398961 + In_Frame_Del DEL TCGCTGTCGCCA - - rs111751275 TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 6e596912-2146-4c4f-97b6-70b610f5d4b4 57519424-2b08-4d99-b4a8-d57630c10ab4 g.chr19:8398950_8398961delTCGCTGTCGCCA uc010dwa.2 - 5 1533_1544 c.1467_1478delTGGCGACAGCGA c.(1465-1479)GATGGCGACAGCGAG>GAG p.DGDS489del KANK3_uc002mjp.1_In_Frame_Del_p.MATA1del NM_198471 NP_940873 Q6NY19 KANK3_HUMAN ankyrin repeat domain 47 489_492 0 GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC 0.693 6 3 --- --- --- ---